Human Phenotype Ontology

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:0030453	HP:0030453	Abnormal visual electrophysiology	0	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome			57
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19			826
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease			826
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			82
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis			114
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2			182
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50			182
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease			58
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory			6
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93			247
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25			5
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis			342
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CHM CL E G H	1121	1940	ORPHA:180	Choroideremia			47
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease			141
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45			164
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CNGB3 CL E G H	54714	2153	ORPHA:1871	Progressive cone dystrophy			194
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease			194
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis			156
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8			156
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis			158
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7			158
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation			62
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease			62
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis			64
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44			37
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GNAT2 CL E G H	2780	4394	ORPHA:1871	Progressive cone dystrophy			19
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia			7
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GUCA1A CL E G H	2978	4678	ORPHA:1871	Progressive cone dystrophy			24
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis			124
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis			148
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis			52
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10			52
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4			4
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis			61
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis			42
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	KIZ CL E G H	55857	15865	OMIM:615780	Retinitis pigmentosa 69			3
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis			70
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5			70
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis			62
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14			62
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV			78
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect			17
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5			26
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D			82
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis			15
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0030453	HP:0030453	Abnormal visual electrophysiology	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:0030453	HP:0030453	Abnormal visual electrophysiology	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome			58
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37			58
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27			30
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism			7
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism			5
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA			3
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis			11
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40			126
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PDE6C CL E G H	5146	8787	ORPHA:1871	Progressive cone dystrophy			80
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22			1
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5			77
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			103
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36			39
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease			110
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7			159
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease			159
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis			95
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis			45
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1			107
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4			107
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RLBP1 CL E G H	6017	10024	OMIM:607475	Bothnia retinal dystrophy			47
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome			10
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7			38
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis			129
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis			109
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	RS1 CL E G H	6247	10457	ORPHA:792	X-linked retinoschisis			148
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3			166
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			68
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis			48
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SSBP1 CL E G H	6742	11317	OMIM:165510	Optic atrophy with negative electroretinograms
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy			95
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31			61
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2			203
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51			41
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency			62
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis			66
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A			146
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39			777
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28			149
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0030453	HP:0030453	Abnormal visual electrophysiology	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	AAAS CL E G H	8086	13666	OMIM:231550	Achalasia-Addisonianism-Alacrima syndrome	.		57
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19			826
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		826
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040281 - Very frequent		120
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040281 - Very frequent		120
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		530
HP:0030453	HP:0000512	Abnormal electroretinogram	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0030453	HP:0000512	Abnormal electroretinogram	1	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040283 - Occasional		82
HP:0030453	HP:0000512	Abnormal electroretinogram	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0030453	HP:0000512	Abnormal electroretinogram	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0030453	HP:0000512	Abnormal electroretinogram	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0030453	HP:0000512	Abnormal electroretinogram	1	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		114
HP:0030453	HP:0000512	Abnormal electroretinogram	1	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		29
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		253
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		253
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		253
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1			19
HP:0030453	HP:0030454	Abnormal electrooculogram	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0030453	HP:0000512	Abnormal electroretinogram	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0030453	HP:0000512	Abnormal electroretinogram	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		114
HP:0030453	HP:0000512	Abnormal electroretinogram	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0030453	HP:0000512	Abnormal electroretinogram	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		118
HP:0030453	HP:0000512	Abnormal electroretinogram	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		71
HP:0030453	HP:0000512	Abnormal electroretinogram	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		97
HP:0030453	HP:0000512	Abnormal electroretinogram	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0030453	HP:0000512	Abnormal electroretinogram	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		87
HP:0030453	HP:0000512	Abnormal electroretinogram	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		25
HP:0030453	HP:0000512	Abnormal electroretinogram	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		66
HP:0030453	HP:0000512	Abnormal electroretinogram	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		119
HP:0030453	HP:0000512	Abnormal electroretinogram	1	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0030453	HP:0000512	Abnormal electroretinogram	1	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2	.		182
HP:0030453	HP:0000512	Abnormal electroretinogram	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0030453	HP:0000512	Abnormal electroretinogram	1	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50			182
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent		58
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory	.		6
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93			247
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CEP104 CL E G H	9731	24866	OMIM:616781	Joubert syndrome 25			5
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		342
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		342
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		9
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CHM CL E G H	1121	1940	ORPHA:180	Choroideremia	HP:0040281 - Very frequent		47
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040281 - Very frequent		141
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		60
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45			164
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CNGB3 CL E G H	54714	2153	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		194
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		194
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		156
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8			156
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		158
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7			158
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0030453	HP:0000512	Abnormal electroretinogram	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0030453	HP:0000512	Abnormal electroretinogram	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0030453	HP:0000512	Abnormal electroretinogram	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	ELOVL4 CL E G H	6785	14415	OMIM:614457	Ichthyosis, spastic quadriplegia, and mental retardation	HP:0040283 - Occasional		62
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		62
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0030453	HP:0000512	Abnormal electroretinogram	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040282 - Frequent		5
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0030453	HP:0000512	Abnormal electroretinogram	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0030453	HP:0000512	Abnormal electroretinogram	1	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0030453	HP:0000512	Abnormal electroretinogram	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0030453	HP:0000512	Abnormal electroretinogram	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0030453	HP:0000512	Abnormal electroretinogram	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.		18
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		160
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent		160
HP:0030453	HP:0000512	Abnormal electroretinogram	1	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		64
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	GJC2 CL E G H	57165	17494	ORPHA:320401	Autosomal recessive spastic paraplegia type 44	HP:0040281 - Very frequent		37
HP:0030453	HP:0000512	Abnormal electroretinogram	1	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0030453	HP:0000512	Abnormal electroretinogram	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0030453	HP:0000512	Abnormal electroretinogram	1	GNAT2 CL E G H	2780	4394	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		19
HP:0030453	HP:0000512	Abnormal electroretinogram	1	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0030453	HP:0000512	Abnormal electroretinogram	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040282 - Frequent		7
HP:0030453	HP:0000512	Abnormal electroretinogram	1	GNB5 CL E G H	10681	4401	OMIM:617173	Intellectual developmental disorder with cardiac arrhythmia	.		7
HP:0030453	HP:0000512	Abnormal electroretinogram	1	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0030453	HP:0000512	Abnormal electroretinogram	1	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0030453	HP:0000512	Abnormal electroretinogram	1	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0030453	HP:0000512	Abnormal electroretinogram	1	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0030453	HP:0000512	Abnormal electroretinogram	1	GUCA1A CL E G H	2978	4678	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		24
HP:0030453	HP:0000512	Abnormal electroretinogram	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0030453	HP:0000512	Abnormal electroretinogram	1	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		124
HP:0030453	HP:0000512	Abnormal electroretinogram	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0030453	HP:0000512	Abnormal electroretinogram	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		99
HP:0030453	HP:0000512	Abnormal electroretinogram	1	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0030453	HP:0000512	Abnormal electroretinogram	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0030453	HP:0000512	Abnormal electroretinogram	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		148
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		48
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		1
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		3
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		52
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10			52
HP:0030453	HP:0030454	Abnormal electrooculogram	1	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4			4
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0030453	HP:0000512	Abnormal electroretinogram	1	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		61
HP:0030453	HP:0000512	Abnormal electroretinogram	1	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		42
HP:0030453	HP:0000512	Abnormal electroretinogram	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0030453	HP:0000512	Abnormal electroretinogram	1	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0030453	HP:0000512	Abnormal electroretinogram	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0030453	HP:0000512	Abnormal electroretinogram	1	KIZ CL E G H	55857	15865	OMIM:615780	Retinitis pigmentosa 69			3
HP:0030453	HP:0000512	Abnormal electroretinogram	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional		411
HP:0030453	HP:0000512	Abnormal electroretinogram	1	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0030453	HP:0000512	Abnormal electroretinogram	1	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		70
HP:0030453	HP:0000512	Abnormal electroretinogram	1	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5			70
HP:0030453	HP:0000512	Abnormal electroretinogram	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0030453	HP:0000512	Abnormal electroretinogram	1	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		62
HP:0030453	HP:0000512	Abnormal electroretinogram	1	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14			62
HP:0030453	HP:0000512	Abnormal electroretinogram	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0030453	HP:0000512	Abnormal electroretinogram	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0030453	HP:0000512	Abnormal electroretinogram	1	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0030453	HP:0000512	Abnormal electroretinogram	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		4
HP:0030453	HP:0000512	Abnormal electroretinogram	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0030453	HP:0000512	Abnormal electroretinogram	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0030453	HP:0000512	Abnormal electroretinogram	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040283 - Occasional		78
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0030453	HP:0000512	Abnormal electroretinogram	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		17
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0030453	HP:0000512	Abnormal electroretinogram	1	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5			26
HP:0030453	HP:0000512	Abnormal electroretinogram	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		69
HP:0030453	HP:0000512	Abnormal electroretinogram	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		127
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0030453	HP:0000512	Abnormal electroretinogram	1	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0030453	HP:0000512	Abnormal electroretinogram	1	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		516
HP:0030453	HP:0000512	Abnormal electroretinogram	1	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.		82
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0030453	HP:0000512	Abnormal electroretinogram	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0030453	HP:0000512	Abnormal electroretinogram	1	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		15
HP:0030453	HP:0000512	Abnormal electroretinogram	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0030453	HP:0000512	Abnormal 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:0030453	HP:0000512	Abnormal electroretinogram	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.		144
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	.		144
HP:0030453	HP:0000512	Abnormal electroretinogram	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		85
HP:0030453	HP:0000512	Abnormal electroretinogram	1	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome			58
HP:0030453	HP:0000512	Abnormal electroretinogram	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0030453	HP:0000512	Abnormal electroretinogram	1	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37			58
HP:0030453	HP:0000512	Abnormal electroretinogram	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0030453	HP:0000512	Abnormal electroretinogram	1	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27			30
HP:0030453	HP:0000512	Abnormal electroretinogram	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0030453	HP:0000512	Abnormal electroretinogram	1	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0030453	HP:0000512	Abnormal electroretinogram	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040282 - Frequent		214
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0030453	HP:0000512	Abnormal electroretinogram	1	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism	HP:0040283 - Occasional		7
HP:0030453	HP:0000512	Abnormal electroretinogram	1	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism	HP:0040283 - Occasional		5
HP:0030453	HP:0000512	Abnormal electroretinogram	1	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA			3
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54	.
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		11
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40			126
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PDE6C CL E G H	5146	8787	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		80
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22			1
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		40
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.		65
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PIEZO2 CL E G H	63895	26270	OMIM:108145	Arthrogryposis, distal, type 5	.		77
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent		77
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent		133
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.		133
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PNPLA6 CL E G H	10908	16268	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040281 - Very frequent		103
HP:0030453	HP:0000512	Abnormal electroretinogram	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.		35
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0030453	HP:0000512	Abnormal 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:0030453	HP:0000649	Abnormality of visual evoked potentials	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0030453	HP:0000512	Abnormal electroretinogram	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36			39
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		110
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7	.		159
HP:0030453	HP:0000512	Abnormal electroretinogram	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		159
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		81
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		81
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		81
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		81
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		85
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		90
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		135
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2			135
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		95
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		45
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0030453	HP:0000512	Abnormal electroretinogram	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1			107
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4	.		107
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RLBP1 CL E G H	6017	10024	OMIM:607475	Bothnia retinal dystrophy	.		47
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RNF216 CL E G H	54476	21698	ORPHA:1173	Cerebellar ataxia-hypogonadism syndrome	HP:0040281 - Very frequent		10
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7	.		38
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		129
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		109
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0030453	HP:0000512	Abnormal electroretinogram	1	RS1 CL E G H	6247	10457	ORPHA:792	X-linked retinoschisis	HP:0040281 - Very frequent		148
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		61
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3	.		166
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040283 - Occasional		68
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		48
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SSBP1 CL E G H	6742	11317	OMIM:165510	Optic atrophy with negative electroretinograms	.
HP:0030453	HP:0000512	Abnormal electroretinogram	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040282 - Frequent		15
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy	.		95
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040283 - Occasional
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31			61
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2			203
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		108
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		41
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51			41
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040283 - Occasional		62
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent		66
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0030453	HP:0000512	Abnormal electroretinogram	1	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040282 - Frequent		146
HP:0030453	HP:0000512	Abnormal electroretinogram	1	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0030453	HP:0000512	Abnormal electroretinogram	1	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0030453	HP:0000512	Abnormal electroretinogram	1	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0030453	HP:0000512	Abnormal electroretinogram	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0030453	HP:0000512	Abnormal electroretinogram	1	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39	.		777
HP:0030453	HP:0000512	Abnormal electroretinogram	1	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		777
HP:0030453	HP:0000512	Abnormal electroretinogram	1	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0030453	HP:0000512	Abnormal electroretinogram	1	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0030453	HP:0000512	Abnormal electroretinogram	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome	.		47
HP:0030453	HP:0000512	Abnormal electroretinogram	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040281 - Very frequent		60
HP:0030453	HP:0000512	Abnormal electroretinogram	1	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		155
HP:0030453	HP:0000512	Abnormal electroretinogram	1	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	HP:0040283 - Occasional		149
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0030453	HP:0000512	Abnormal electroretinogram	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0030453	HP:0000649	Abnormality of visual evoked potentials	1	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0030453	HP:0031155	Increased Arden ratio of electrooculogram	2	CL E G H
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0030453	HP:0007965	Undetectable visual evoked potentials	2	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0030453	HP:0007928	Abnormal flash visual evoked potentials	2	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent		19
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0030453	HP:0000550	Undetectable electroretinogram	2	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93			247
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030453	HP:0000550	Undetectable electroretinogram	2	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0030453	HP:0000550	Undetectable electroretinogram	2	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0030453	HP:0000550	Undetectable electroretinogram	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0030453	HP:0030455	Abnormality of pattern visual evoked potentials	2	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0030453	HP:0000550	Undetectable electroretinogram	2	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0030453	HP:0007965	Undetectable visual evoked potentials	2	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0030453	HP:0007965	Undetectable visual evoked potentials	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0030453	HP:0000550	Undetectable electroretinogram	2	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.		156
HP:0030453	HP:0000550	Undetectable electroretinogram	2	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0030453	HP:0000550	Undetectable electroretinogram	2	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7	.		158
HP:0030453	HP:0030455	Abnormality of pattern visual evoked potentials	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0030453	HP:0000550	Undetectable electroretinogram	2	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0030453	HP:0000550	Undetectable electroretinogram	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa	.		111
HP:0030453	HP:0007928	Abnormal flash visual evoked potentials	2	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0030453	HP:0000550	Undetectable electroretinogram	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0030453	HP:0000550	Undetectable electroretinogram	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10			52
HP:0030453	HP:0008179	Decreased Arden ratio of electrooculogram	2	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4			4
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0030453	HP:0000550	Undetectable electroretinogram	2	KIZ CL E G H	55857	15865	OMIM:615780	Retinitis pigmentosa 69	.	HP:0003596 - Middle age onset	3
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0030453	HP:0000550	Undetectable electroretinogram	2	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5			70
HP:0030453	HP:0000550	Undetectable electroretinogram	2	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		70
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14			62
HP:0030453	HP:0000550	Undetectable electroretinogram	2	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0030453	HP:0000550	Undetectable electroretinogram	2	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		62
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5			26
HP:0030453	HP:0007965	Undetectable visual evoked potentials	2	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG			32
HP:0030453	HP:0000550	Undetectable electroretinogram	2	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I	.		516
HP:0030453	HP:0007965	Undetectable visual evoked potentials	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0030453	HP:0000550	Undetectable electroretinogram	2	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0030453	HP:0000550	Undetectable electroretinogram	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0030453	HP:0000550	Undetectable electroretinogram	2	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome	.		58
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37			58
HP:0030453	HP:0000550	Undetectable electroretinogram	2	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.		30
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0030453	HP:0030455	Abnormality of pattern visual evoked potentials	2	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0030453	HP:0030455	Abnormality of pattern visual evoked potentials	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA			3
HP:0030453	HP:0007965	Undetectable visual evoked potentials	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40			126
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0030453	HP:0000550	Undetectable electroretinogram	2	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22			1
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0030453	HP:0007965	Undetectable visual evoked potentials	2	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0030453	HP:0030466	Abnormal full-field 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:0030453	HP:0007928	Abnormal flash visual evoked potentials	2	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0030453	HP:0000550	Undetectable 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:0030453	HP:0000550	Undetectable electroretinogram	2	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0030453	HP:0000550	Undetectable electroretinogram	2	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36	.		39
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0030453	HP:0000550	Undetectable electroretinogram	2	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0030453	HP:0007965	Undetectable visual evoked potentials	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent		49
HP:0030453	HP:0007965	Undetectable visual evoked potentials	2	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.		135
HP:0030453	HP:0007965	Undetectable visual evoked potentials	2	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1			107
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0030453	HP:0030468	Abnormal multifocal electroretinogram	2	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0030453	HP:0000550	Undetectable electroretinogram	2	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		129
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0030453	HP:0000550	Undetectable electroretinogram	2	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6	.		109
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0030453	HP:0007928	Abnormal flash visual evoked potentials	2	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa	HP:0040284 - Very rare
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0030453	HP:0000550	Undetectable electroretinogram	2	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		48
HP:0030453	HP:0030455	Abnormality of pattern visual evoked potentials	2	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent		287
HP:0030453	HP:0030467	Abnormal pattern electroretinogram	2	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0030453	HP:0000550	Undetectable electroretinogram	2	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2	.		203
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51			41
HP:0030453	HP:0030467	Abnormal pattern electroretinogram	2	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0030453	HP:0000550	Undetectable electroretinogram	2	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0030453	HP:0000550	Undetectable electroretinogram	2	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I	.		173
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0030453	HP:0030466	Abnormal full-field electroretinogram	2	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0030453	HP:0007965	Undetectable visual evoked potentials	2	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome			1
HP:0030453	HP:0030461	Abnormal timing of flash visual evoked potentials	3	CL E G H
HP:0030453	HP:0030485	Abnormal amplitude of pattern electroretinogram	3	CL E G H
HP:0030453	HP:0030489	Abnormal paracentral response of multifocal electroretinogram	3	CL E G H
HP:0030453	HP:0030456	Abnormality of pattern onset/offset visual evoked potentials	3	CL E G H
HP:0030453	HP:0030488	Abnormal central response of multifocal electroretinogram	3	CL E G H
HP:0030453	HP:0030487	Abnormal P50/N95 ratio of pattern electroretinogram	3	CL E G H
HP:0030453	HP:0030463	Asymmetrical distribution of flash visual evoked potentials	3	CL E G H
HP:0030453	HP:0030486	Abnormal timing of pattern electroretinogram	3	CL E G H
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis			116
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0030453	HP:0008275	Abnormal light-adapted electroretinogram	3	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		94
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		58
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0030453	HP:0008275	Abnormal light-adapted electroretinogram	3	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		129
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0030453	HP:0008275	Abnormal light-adapted electroretinogram	3	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0030453	HP:0008275	Abnormal light-adapted electroretinogram	3	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0030453	HP:0008275	Abnormal light-adapted electroretinogram	3	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		39
HP:0030453	HP:0008275	Abnormal light-adapted electroretinogram	3	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		5
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		124
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		4
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		63
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10			52
HP:0030453	HP:0008275	Abnormal light-adapted electroretinogram	3	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6			136
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14			62
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		54
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.		26
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37			58
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis			7
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		42
HP:0030453	HP:0100289	Abnormality of pattern reversal visual evoked potentials	3	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0030453	HP:0100289	Abnormality of pattern reversal visual evoked potentials	3	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0030453	HP:0008275	Abnormal light-adapted electroretinogram	3	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA	.		3
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		126
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40	.		126
HP:0030453	HP:0008275	Abnormal light-adapted electroretinogram	3	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0030453	HP:0008275	Abnormal light-adapted electroretinogram	3	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0030453	HP:0008275	Abnormal light-adapted electroretinogram	3	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0030453	HP:0030462	Abnormal amplitude of flash visual evoked potentials	3	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		159
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		32
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		107
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1			107
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		107
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040281 - Very frequent		47
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		47
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0030453	HP:0008275	Abnormal light-adapted electroretinogram	3	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		32
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		66
HP:0030453	HP:0030844	Undetectable pattern electroretinogram	3	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0030453	HP:0030469	Abnormal dark-adapted electroretinogram	3	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		104
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.		41
HP:0030453	HP:0030844	Undetectable pattern electroretinogram	3	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0030453	HP:0008323	Abnormal light- and dark-adapted electroretinogram	3	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.		27
HP:0030453	HP:0030460	Abnormal timing of pattern reversal visual evoked potentials	4	CL E G H
HP:0030453	HP:0030458	Abnormal timing of pattern onset/offset visual evoked potentials	4	CL E G H
HP:0030453	HP:0030472	Abnormal light-adapted single flash electroretinogram	4	CL E G H
HP:0030453	HP:0030457	Abnormal amplitude of pattern onset/offset visual evoked potentials	4	CL E G H
HP:0030453	HP:0030471	Abnormal dark-adapted dim flash electroretinogram	4	CL E G H
HP:0030453	HP:0030464	Asymmetrical distribution of pattern reversal visual evoked potentials	4	CL E G H
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0030453	HP:0007688	Undetectable light- and dark-adapted electroretinogram	4	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional		116
HP:0030453	HP:0007688	Undetectable light- and dark-adapted electroretinogram	4	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.		114
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0030453	HP:0030465	Undetectable light-adapted electroretinogram	4	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		10
HP:0030453	HP:0007688	Undetectable light- and dark-adapted electroretinogram	4	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0030453	HP:0030473	Abnormal light-adapted flicker electroretinogram	4	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0030453	HP:0007688	Undetectable light- and dark-adapted electroretinogram	4	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030453	HP:0007688	Undetectable light- and dark-adapted electroretinogram	4	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0030453	HP:0030465	Undetectable light-adapted electroretinogram	4	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		82
HP:0030453	HP:0030465	Undetectable light-adapted electroretinogram	4	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0030453	HP:0030465	Undetectable light-adapted electroretinogram	4	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		194
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent		126
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0030453	HP:0030465	Undetectable light-adapted electroretinogram	4	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		19
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0030453	HP:0007688	Undetectable light- and dark-adapted electroretinogram	4	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	.		52
HP:0030453	HP:0030473	Abnormal light-adapted flicker electroretinogram	4	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	LARGE1 CL E G H	9215	6511	OMIM:608840	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6	.		136
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.		78
HP:0030453	HP:0007688	Undetectable light- and dark-adapted electroretinogram	4	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.		58
HP:0030453	HP:0007688	Undetectable light- and dark-adapted electroretinogram	4	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional		7
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0030453	HP:0000650	Abnormal amplitude of pattern reversal visual evoked potentials	4	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.		214
HP:0030453	HP:0000650	Abnormal amplitude of pattern reversal visual evoked potentials	4	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0030453	HP:0007688	Undetectable light- and dark-adapted electroretinogram	4	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040283 - Occasional		11
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0030453	HP:0030465	Undetectable light-adapted electroretinogram	4	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		80
HP:0030453	HP:0030465	Undetectable light-adapted electroretinogram	4	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		14
HP:0030453	HP:0030473	Abnormal light-adapted flicker electroretinogram	4	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0030453	HP:0008045	Enlarged flash visual evoked potentials	4	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.		180
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1	.		107
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0030453	HP:0030474	Undetectable dark-adapted electroretinogram	4	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040281 - Very frequent		47
HP:0030453	HP:0007688	Undetectable light- and dark-adapted electroretinogram	4	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1	.		111
HP:0030453	HP:0007688	Undetectable light- and dark-adapted electroretinogram	4	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	.		14
HP:0030453	HP:0007688	Undetectable light- and dark-adapted electroretinogram	4	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0030453	HP:0030465	Undetectable light-adapted electroretinogram	4	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		200
HP:0030453	HP:0007688	Undetectable light- and dark-adapted electroretinogram	4	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0030453	HP:0030470	Abnormal dark-adapted bright flash electroretinogram	4	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0030453	HP:0000654	Decreased light- and dark-adapted electroretinogram amplitude	4	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0030453	HP:0030476	Abnormal amplitude of dark-adapted dim flash electroretinogram	5	CL E G H
HP:0030453	HP:0030475	Abnormal timing of dark-adapted dim flash electroretinogram	5	CL E G H
HP:0030453	HP:0030482	Abnormal timing of light-adapted single flash electroretinogram	5	CL E G H
HP:0030453	HP:0030481	Abnormal amplitude of light-adapted single flash electroretinogram	5	CL E G H
HP:0030453	HP:0030480	Abnormal timing of light-adapted flicker electroretinogram	5	CL E G H
HP:0030453	HP:0030477	Abnormal timing of dark-adapted bright flash electroretinogram	5	CL E G H
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0030453	HP:0030479	Abnormal amplitude of light-adapted flicker electroretinogram	5	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0030453	HP:0030478	Abnormal amplitude of dark-adapted bright flash electroretinogram	5	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0030453	HP:0030484	Supernormal dark-adapted bright flash electroretinogram b-wave	6	CL E G H
HP:0030453	HP:0007984	Electronegative electroretinogram	6	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0030453	HP:0007984	Electronegative electroretinogram	6	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		94
HP:0030453	HP:0007984	Electronegative electroretinogram	6	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		94
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		58
HP:0030453	HP:0007984	Electronegative electroretinogram	6	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		58
HP:0030453	HP:0007984	Electronegative electroretinogram	6	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0030453	HP:0007984	Electronegative electroretinogram	6	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		129
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		129
HP:0030453	HP:0007984	Electronegative electroretinogram	6	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0030453	HP:0007984	Electronegative electroretinogram	6	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		39
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		39
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		5
HP:0030453	HP:0007984	Electronegative electroretinogram	6	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		5
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		124
HP:0030453	HP:0007984	Electronegative electroretinogram	6	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		124
HP:0030453	HP:0007984	Electronegative electroretinogram	6	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		4
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		4
HP:0030453	HP:0007984	Electronegative electroretinogram	6	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease	HP:0040281 - Very frequent		4
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		63
HP:0030453	HP:0007984	Electronegative electroretinogram	6	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		63
HP:0030453	HP:0007984	Electronegative electroretinogram	6	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		54
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		54
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		42
HP:0030453	HP:0007984	Electronegative electroretinogram	6	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		42
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		126
HP:0030453	HP:0007984	Electronegative electroretinogram	6	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		126
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		107
HP:0030453	HP:0007984	Electronegative electroretinogram	6	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		107
HP:0030453	HP:0007984	Electronegative electroretinogram	6	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional		47
HP:0030453	HP:0007984	Electronegative electroretinogram	6	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0030453	HP:0007984	Electronegative electroretinogram	6	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		32
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		32
HP:0030453	HP:0007984	Electronegative electroretinogram	6	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease	HP:0040281 - Very frequent		32
HP:0030453	HP:0007984	Electronegative electroretinogram	6	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		66
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		66
HP:0030453	HP:0007984	Electronegative electroretinogram	6	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		104
HP:0030453	HP:0030483	Reduced amplitude of dark-adapted bright flash electroretinogram a-wave	6	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040283 - Occasional		104