Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000505	HP:0000505	Visual impairment	0	AAAS CL E G H	8086	869				ORPHA	1	79	13666	605378
HP:0000505	HP:0000505	Visual impairment	0	ABCA1 CL E G H	19	205400	Tangier disease	205400	C0039292	OMIM	1	240	29	600046
HP:0000505	HP:0000505	Visual impairment	0	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	380	57	603234
HP:0000505	HP:0000505	Visual impairment	0	ADAM9 CL E G H	8754	612775	Cone-rod dystrophy 9	612775	C1423873	OMIM	1	11	216	602713
HP:0000505	HP:0000505	Visual impairment	0	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	68	15766	611386
HP:0000505	HP:0000505	Visual impairment	0	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	96	21575	608894
HP:0000505	HP:0000505	Visual impairment	0	AIMP1 CL E G H	9255	260600	Leukodystrophy, hypomyelinating 3	260600	C1850053	OMIM	1	5	10648	603605
HP:0000505	HP:0000505	Visual impairment	0	AIRE CL E G H	326	3453	Meier Rotschild syndrome			ORPHA	1	141	360	607358
HP:0000505	HP:0000505	Visual impairment	0	ALG2 CL E G H	85365	607906	Congenital disorder of glycosylation type 1I	607906	C1842836	OMIM	1	5	23159	607905
HP:0000505	HP:0000505	Visual impairment	0	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	14	451	604489
HP:0000505	HP:0000505	Visual impairment	0	ANTXR1 CL E G H	84168	2067				ORPHA	1	14	21014	606410
HP:0000505	HP:0000505	Visual impairment	0	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1	35	566	603401
HP:0000505	HP:0000505	Visual impairment	0	AP3D1 CL E G H	8943	284804				ORPHA	1	4	568	607246
HP:0000505	HP:0000505	Visual impairment	0	ARID1A CL E G H	8289	614607	Mental retardation, autosomal dominant 14	614607	C3553247	OMIM	1	36	11110	603024
HP:0000505	HP:0000505	Visual impairment	0	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	188	18040	614556
HP:0000505	HP:0000505	Visual impairment	0	ARNT2 CL E G H	9915	3157	Lachiewicz Sibley syndrome			ORPHA	1	6	16876	606036
HP:0000505	HP:0000505	Visual impairment	0	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	98	18060	300382
HP:0000505	HP:0000505	Visual impairment	0	B3GALNT2 CL E G H	148789	588				ORPHA	1	16	28596	610194
HP:0000505	HP:0000505	Visual impairment	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	5	961	605681
HP:0000505	HP:0000505	Visual impairment	0	BDNF CL E G H	627	893				ORPHA	1	35	1033	113505
HP:0000505	HP:0000505	Visual impairment	0	BEST1 CL E G H	7439	153700	Vitelliform macular dystrophy type 2	153700	C0339510	OMIM	1	319	12703	607854
HP:0000505	HP:0000505	Visual impairment	0	BLOC1S3 CL E G H	388552	614077	Hermansky-Pudlak syndrome 8	614077	C3888026	OMIM	1	4	20914	609762
HP:0000505	HP:0000505	Visual impairment	0	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1	11	26784	613541
HP:0000505	HP:0000505	Visual impairment	0	CA2 CL E G H	760	259730	Osteopetrosis with renal tubular acidosis	259730	C0345407	OMIM	1	31	1373	611492
HP:0000505	HP:0000505	Visual impairment	0	CABP4 CL E G H	57010	610427	Congenital stationary night blindness, type 2B	610427	C1864877	OMIM	1	13	1386	608965
HP:0000505	HP:0000505	Visual impairment	0	CACNA1F CL E G H	778	300071	Congenital stationary night blindness, type 2A	300071	C1848172	OMIM	1	185	1393	300110
HP:0000505	HP:0000505	Visual impairment	0	CACNA2D4 CL E G H	93589	610478	Retinal cone dystrophy 4	610478	C1864849	OMIM	1	9	20202	608171
HP:0000505	HP:0000505	Visual impairment	0	CAMK2B CL E G H	816	617799	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54	617799	C4540484	OMIM	1	11	1461	607707
HP:0000505	HP:0000505	Visual impairment	0	CARS2 CL E G H	79587	616672	Combined oxidative phosphorylation deficiency 27	616672	C4225251	OMIM	1	4	25695	612800
HP:0000505	HP:0000505	Visual impairment	0	CASK CL E G H	8573	163937				ORPHA	1	119	1497	300172
HP:0000505	HP:0000505	Visual impairment	0	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	96	29253	612013
HP:0000505	HP:0000505	Visual impairment	0	CEP290 CL E G H	80184	611755	Leber congenital amaurosis 10	611755	C1857821	OMIM	1	310	29021	610142
HP:0000505	HP:0000505	Visual impairment	0	CEP290 CL E G H	80184	610189	Senior-Loken syndrome 6	610189	C1857779	OMIM	1	310	29021	610142
HP:0000505	HP:0000505	Visual impairment	0	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	7	26877	616174
HP:0000505	HP:0000505	Visual impairment	0	CLCN7 CL E G H	1186	667				ORPHA	1	100	2025	602727
HP:0000505	HP:0000505	Visual impairment	0	CLCN7 CL E G H	1186	611490	Osteopetrosis autosomal recessive 4	611490	C1969106	OMIM	1	100	2025	602727
HP:0000505	HP:0000505	Visual impairment	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	2586	603432
HP:0000505	HP:0000505	Visual impairment	0	CLRN1 CL E G H	7401	614180	Retinitis pigmentosa 61	614180	C3280041	OMIM	1	39	12605	606397
HP:0000505	HP:0000505	Visual impairment	0	CNGB3 CL E G H	54714	1871	Dionisi Vici Sabetta Gambarara syndrome			ORPHA	1	126	2153	605080
HP:0000505	HP:0000505	Visual impairment	0	CNNM4 CL E G H	26504	1873	Diphallus rachischisis imperforate anus			ORPHA	1	24	105	607805
HP:0000505	HP:0000505	Visual impairment	0	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	21	8011	602346
HP:0000505	HP:0000505	Visual impairment	0	COL17A1 CL E G H	1308	122400	Epithelial recurrent erosion dystrophy	122400	C1852551	OMIM	1	114	2194	113811
HP:0000505	HP:0000505	Visual impairment	0	COQ7 CL E G H	10229	616733	Coenzyme Q10 deficiency, primary, 8	616733	C4225226	OMIM	1	5	2244	601683
HP:0000505	HP:0000505	Visual impairment	0	CRB1 CL E G H	23418	613835	Leber congenital amaurosis 8	613835	C3151202	OMIM	1	347	2343	604210
HP:0000505	HP:0000505	Visual impairment	0	CRX CL E G H	1406	613829	Leber congenital amaurosis 7	613829	C3151192	OMIM	1	107	2383	602225
HP:0000505	HP:0000505	Visual impairment	0	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	30	29419	612799
HP:0000505	HP:0000505	Visual impairment	0	EFEMP1 CL E G H	2202	126600	Doyne honeycomb retinal dystrophy	126600	C1832174	OMIM	1	9	3218	601548
HP:0000505	HP:0000505	Visual impairment	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	127	3327	130160
HP:0000505	HP:0000505	Visual impairment	0	ERCC1 CL E G H	2067	1466				ORPHA	1	8	3433	126380
HP:0000505	HP:0000505	Visual impairment	0	ERCC2 CL E G H	2068	1466				ORPHA	1	108	3434	126340
HP:0000505	HP:0000505	Visual impairment	0	ERCC4 CL E G H	2072	610965	XFE progeroid syndrome	610965	C1970416	OMIM	1	72	3436	133520
HP:0000505	HP:0000505	Visual impairment	0	ERCC5 CL E G H	2073	1466				ORPHA	1	59	3437	133530
HP:0000505	HP:0000505	Visual impairment	0	ERCC6 CL E G H	2074	1466				ORPHA	1	140	3438	609413
HP:0000505	HP:0000505	Visual impairment	0	EXOSC8 CL E G H	11340	616081	Pontocerebellar hypoplasia, type 1c	616081	C4015160	OMIM	1	3	17035	606019
HP:0000505	HP:0000505	Visual impairment	0	FAS CL E G H	355	3437				ORPHA	1	142	11920	134637
HP:0000505	HP:0000505	Visual impairment	0	FDXR CL E G H	2232	617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	617717	C4521678	OMIM	1	19	3642	103270
HP:0000505	HP:0000505	Visual impairment	0	FGFR1 CL E G H	2260	3157	Lachiewicz Sibley syndrome			ORPHA	1	265	3688	136350
HP:0000505	HP:0000505	Visual impairment	0	FGFR2 CL E G H	2263	123500	Crouzon syndrome	123500	C0010273	OMIM	1	159	3689	176943
HP:0000505	HP:0000505	Visual impairment	0	FH CL E G H	2271	606812	Fumarase deficiency	606812	C0342770	OMIM	1	216	3700	136850
HP:0000505	HP:0000505	Visual impairment	0	FKRP CL E G H	79147	588				ORPHA	1	141	17997	606596
HP:0000505	HP:0000505	Visual impairment	0	FKTN CL E G H	2218	588				ORPHA	1	59	3622	607440
HP:0000505	HP:0000505	Visual impairment	0	FOXE3 CL E G H	2301	88632				ORPHA	1	31	3808	601094
HP:0000505	HP:0000505	Visual impairment	0	FSCN2 CL E G H	25794	607921	Retinitis pigmentosa 30	607921	C1842816	OMIM	1	15	3960	607643
HP:0000505	HP:0000505	Visual impairment	0	GDF3 CL E G H	9573	613703	Microphthalmia, isolated, with coloboma 6	613703	C3150968	OMIM	1	6	4218	606522
HP:0000505	HP:0000505	Visual impairment	0	GDF6 CL E G H	392255	613703	Microphthalmia, isolated, with coloboma 6	613703	C3150968	OMIM	1	21	4221	601147
HP:0000505	HP:0000505	Visual impairment	0	GJA1 CL E G H	2697	2710	Hm syndrome			ORPHA	1	109	4274	121014
HP:0000505	HP:0000505	Visual impairment	0	GLRX5 CL E G H	51218	401866				ORPHA	1	6	20134	609588
HP:0000505	HP:0000505	Visual impairment	0	GLRX5 CL E G H	51218	616859	Spasticity, childhood-onset, with hyperglycinemia	616859	C4225178	OMIM	1	6	20134	609588
HP:0000505	HP:0000505	Visual impairment	0	GMPPA CL E G H	29926	869				ORPHA	1	12	22923	615495
HP:0000505	HP:0000505	Visual impairment	0	GMPPB CL E G H	29925	588				ORPHA	1	49	22932	615320
HP:0000505	HP:0000505	Visual impairment	0	GNAT2 CL E G H	2780	613856	Achromatopsia 4	613856	C1841721	OMIM	1	16	4394	139340
HP:0000505	HP:0000505	Visual impairment	0	GNAT2 CL E G H	2780	1871	Dionisi Vici Sabetta Gambarara syndrome			ORPHA	1	16	4394	139340
HP:0000505	HP:0000505	Visual impairment	0	GPR143 CL E G H	4935	300500	Ocular albinism, type I	300500	C0342684	OMIM	1	181	20145	300808
HP:0000505	HP:0000505	Visual impairment	0	GRN CL E G H	2896	614706	Ceroid lipofuscinosis, neuronal, 11	614706	C3539123	OMIM	1	231	4601	138945
HP:0000505	HP:0000505	Visual impairment	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	4659	601679
HP:0000505	HP:0000505	Visual impairment	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	6	4661	604318
HP:0000505	HP:0000505	Visual impairment	0	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	5	4670	607434
HP:0000505	HP:0000505	Visual impairment	0	GUCA1A CL E G H	2978	1871	Dionisi Vici Sabetta Gambarara syndrome			ORPHA	1	23	4678	600364
HP:0000505	HP:0000505	Visual impairment	0	GUCA1B CL E G H	2979	613827	Retinitis pigmentosa 48	613827	C3151190	OMIM	1	7	4679	602275
HP:0000505	HP:0000505	Visual impairment	0	HARS CL E G H	3035	614504	Usher syndrome, type 3B	614504	C3281066	OMIM	1	13	4816	142810
HP:0000505	HP:0000505	Visual impairment	0	HESX1 CL E G H	8820	3157	Lachiewicz Sibley syndrome			ORPHA	1	27	4877	601802
HP:0000505	HP:0000505	Visual impairment	0	HPS3 CL E G H	84343	614072	Hermansky-Pudlak syndrome 3	614072	C3888001	OMIM	1	17	15597	606118
HP:0000505	HP:0000505	Visual impairment	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	101	5213	601860
HP:0000505	HP:0000505	Visual impairment	0	HSPG2 CL E G H	3339	800				ORPHA	1	67	5273	142461
HP:0000505	HP:0000505	Visual impairment	0	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	23	27302	615316
HP:0000505	HP:0000505	Visual impairment	0	IGBP1 CL E G H	3476	300472	Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia	300472	C1845446	OMIM	1	2	5461	300139
HP:0000505	HP:0000505	Visual impairment	0	IKBKG CL E G H	8517	464	Achromatopsia incomplete X-linked		CN036572	ORPHA	1	151	5961	300248
HP:0000505	HP:0000505	Visual impairment	0	IMPDH1 CL E G H	3614	613837	Leber congenital amaurosis 11	613837	C1840284	OMIM	1	24	6052	146690
HP:0000505	HP:0000505	Visual impairment	0	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	54	21474	613037
HP:0000505	HP:0000505	Visual impairment	0	ISCA2 CL E G H	122961	616370	Multiple mitochondrial dysfunctions syndrome 4	616370	C4225348	OMIM	1	3	19857	615317
HP:0000505	HP:0000505	Visual impairment	0	ITPR1 CL E G H	3708	206700	Gillespie syndrome	206700	C0431401	OMIM	1	95	6180	147265
HP:0000505	HP:0000505	Visual impairment	0	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	103	6501	309060
HP:0000505	HP:0000505	Visual impairment	0	LARGE1 CL E G H	9215	588				ORPHA	1	28	6511	603590
HP:0000505	HP:0000505	Visual impairment	0	LCA5 CL E G H	167691	604537	Leber congenital amaurosis 5	604537	C1858301	OMIM	1	49	31923	611408
HP:0000505	HP:0000505	Visual impairment	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	7	6613	601329
HP:0000505	HP:0000505	Visual impairment	0	LRPAP1 CL E G H	4043	615431	Myopia 23, autosomal recessive	615431	C3809482	OMIM	1	5	6701	104225
HP:0000505	HP:0000505	Visual impairment	0	LYST CL E G H	1130	214500	Chédiak-Higashi syndrome	214500	C0007965	OMIM	1	102	1968	606897
HP:0000505	HP:0000505	Visual impairment	0	MBD5 CL E G H	55777	156200	Mental retardation, autosomal dominant 1	156200	C1969562	OMIM	1	91	20444	611472
HP:0000505	HP:0000505	Visual impairment	0	MC1R CL E G H	4157	79432				ORPHA	1	109	6929	155555
HP:0000505	HP:0000505	Visual impairment	0	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	36	13356	605248
HP:0000505	HP:0000505	Visual impairment	0	MECR CL E G H	51102	617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	617282	C4310634	OMIM	1	6	19691	608205
HP:0000505	HP:0000505	Visual impairment	0	MFF CL E G H	56947	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	617086	C4310726	OMIM	1	4	24858	614785
HP:0000505	HP:0000505	Visual impairment	0	MICOS13 CL E G H	125988	67047				ORPHA	1		33702	616658
HP:0000505	HP:0000505	Visual impairment	0	MITF CL E G H	4286	103470	Albinism, ocular, with sensorineural deafness	103470	C1863198	OMIM	1	61	7105	156845
HP:0000505	HP:0000505	Visual impairment	0	MMACHC CL E G H	25974	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	95	24525	609831
HP:0000505	HP:0000505	Visual impairment	0	NOTCH3 CL E G H	4854	136				ORPHA	1	379	7883	600276
HP:0000505	HP:0000505	Visual impairment	0	NRL CL E G H	4901	613750	Retinitis pigmentosa 27	613750	C1834329	OMIM	1	25	8002	162080
HP:0000505	HP:0000505	Visual impairment	0	NTRK2 CL E G H	4915	617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58	617830	CN757795	OMIM	1	13	8032	600456
HP:0000505	HP:0000505	Visual impairment	0	NUS1 CL E G H	116150	617082	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa	617082	C4310727	OMIM	1	22	21042	610463
HP:0000505	HP:0000505	Visual impairment	0	OCA2 CL E G H	4948	79432				ORPHA	1	316	8101	611409
HP:0000505	HP:0000505	Visual impairment	0	OCRL CL E G H	4952	309000	Lowe syndrome	309000	C0028860	OMIM	1	264	8108	300535
HP:0000505	HP:0000505	Visual impairment	0	OPA1 CL E G H	4976	1215	Cerebro reno digital syndrome			ORPHA	1	394	8140	605290
HP:0000505	HP:0000505	Visual impairment	0	OPA3 CL E G H	80207	67047				ORPHA	1	15	8142	606580
HP:0000505	HP:0000505	Visual impairment	0	OPA3 CL E G H	80207	258501	3-Methylglutaconic aciduria type 3	258501	C0574084	OMIM	1	15	8142	606580
HP:0000505	HP:0000505	Visual impairment	0	OPN1LW CL E G H	5956	303700	Cone monochromatism	303700	C0339537	OMIM	1	63	9936	300822
HP:0000505	HP:0000505	Visual impairment	0	OPN1MW CL E G H	2652	303700	Cone monochromatism	303700	C0339537	OMIM	1	21	4206	300821
HP:0000505	HP:0000505	Visual impairment	0	OSGEP CL E G H	55644	617729	GALLOWAY-MOWAT SYNDROME 3	617729	C4540266	OMIM	1	17	18028	610107
HP:0000505	HP:0000505	Visual impairment	0	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	9	21652	607649
HP:0000505	HP:0000505	Visual impairment	0	OTX2 CL E G H	5015	3157	Lachiewicz Sibley syndrome			ORPHA	1	78	8522	600037
HP:0000505	HP:0000505	Visual impairment	0	PAX2 CL E G H	5076	1475	Congenital bronchobiliary fistula			ORPHA	1	98	8616	167409
HP:0000505	HP:0000505	Visual impairment	0	PAX6 CL E G H	5080	893				ORPHA	1	571	8620	607108
HP:0000505	HP:0000505	Visual impairment	0	PAX6 CL E G H	5080	136520	Foveal hypoplasia and presenile cataract syndrome	136520	C3805604	OMIM	1	571	8620	607108
HP:0000505	HP:0000505	Visual impairment	0	PAX6 CL E G H	5080	165550	Optic nerve hypoplasia, bilateral	165550	C1833797	OMIM	1	571	8620	607108
HP:0000505	HP:0000505	Visual impairment	0	PCARE CL E G H	388939	613428	Retinitis pigmentosa 54	613428	C3150691	OMIM	1	53	34383	613425
HP:0000505	HP:0000505	Visual impairment	0	PDE6C CL E G H	5146	613093	Cone dystrophy 4	613093	C2751308	OMIM	1	58	8787	600827
HP:0000505	HP:0000505	Visual impairment	0	PDE6C CL E G H	5146	1871	Dionisi Vici Sabetta Gambarara syndrome			ORPHA	1	58	8787	600827
HP:0000505	HP:0000505	Visual impairment	0	PEPD CL E G H	5184	742	Aortic dissection lentiginosis			ORPHA	1	31	8840	613230
HP:0000505	HP:0000505	Visual impairment	0	PEX1 CL E G H	5189	912				ORPHA	1	140	8850	602136
HP:0000505	HP:0000505	Visual impairment	0	PEX1 CL E G H	5189	44	MYBPC1-related condition			ORPHA	1	140	8850	602136
HP:0000505	HP:0000505	Visual impairment	0	PEX10 CL E G H	5192	912				ORPHA	1	32	8851	602859
HP:0000505	HP:0000505	Visual impairment	0	PEX10 CL E G H	5192	44	MYBPC1-related condition			ORPHA	1	32	8851	602859
HP:0000505	HP:0000505	Visual impairment	0	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	32	8851	602859
HP:0000505	HP:0000505	Visual impairment	0	PEX11B CL E G H	8799	912				ORPHA	1	8	8853	603867
HP:0000505	HP:0000505	Visual impairment	0	PEX11B CL E G H	8799	44	MYBPC1-related condition			ORPHA	1	8	8853	603867
HP:0000505	HP:0000505	Visual impairment	0	PEX12 CL E G H	5193	912				ORPHA	1	37	8854	601758
HP:0000505	HP:0000505	Visual impairment	0	PEX12 CL E G H	5193	44	MYBPC1-related condition			ORPHA	1	37	8854	601758
HP:0000505	HP:0000505	Visual impairment	0	PEX13 CL E G H	5194	912				ORPHA	1	10	8855	601789
HP:0000505	HP:0000505	Visual impairment	0	PEX13 CL E G H	5194	44	MYBPC1-related condition			ORPHA	1	10	8855	601789
HP:0000505	HP:0000505	Visual impairment	0	PEX14 CL E G H	5195	912				ORPHA	1	5	8856	601791
HP:0000505	HP:0000505	Visual impairment	0	PEX14 CL E G H	5195	44	MYBPC1-related condition			ORPHA	1	5	8856	601791
HP:0000505	HP:0000505	Visual impairment	0	PEX16 CL E G H	9409	912				ORPHA	1	15	8857	603360
HP:0000505	HP:0000505	Visual impairment	0	PEX16 CL E G H	9409	44	MYBPC1-related condition			ORPHA	1	15	8857	603360
HP:0000505	HP:0000505	Visual impairment	0	PEX16 CL E G H	9409	614877	Peroxisome biogenesis disorder 8B	614877	C3553960	OMIM	1	15	8857	603360
HP:0000505	HP:0000505	Visual impairment	0	PEX19 CL E G H	5824	912				ORPHA	1	4	9713	600279
HP:0000505	HP:0000505	Visual impairment	0	PEX19 CL E G H	5824	44	MYBPC1-related condition			ORPHA	1	4	9713	600279
HP:0000505	HP:0000505	Visual impairment	0	PEX2 CL E G H	5828	912				ORPHA	1	18	9717	170993
HP:0000505	HP:0000505	Visual impairment	0	PEX2 CL E G H	5828	44	MYBPC1-related condition			ORPHA	1	18	9717	170993
HP:0000505	HP:0000505	Visual impairment	0	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	18	9717	170993
HP:0000505	HP:0000505	Visual impairment	0	PEX26 CL E G H	55670	912				ORPHA	1	27	22965	608666
HP:0000505	HP:0000505	Visual impairment	0	PEX26 CL E G H	55670	44	MYBPC1-related condition			ORPHA	1	27	22965	608666
HP:0000505	HP:0000505	Visual impairment	0	PEX26 CL E G H	55670	614873	Peroxisome biogenesis disorder 7B	614873	C3553951	OMIM	1	27	22965	608666
HP:0000505	HP:0000505	Visual impairment	0	PEX3 CL E G H	8504	912				ORPHA	1	10	8858	603164
HP:0000505	HP:0000505	Visual impairment	0	PEX3 CL E G H	8504	44	MYBPC1-related condition			ORPHA	1	10	8858	603164
HP:0000505	HP:0000505	Visual impairment	0	PEX5 CL E G H	5830	912				ORPHA	1	14	9719	600414
HP:0000505	HP:0000505	Visual impairment	0	PEX5 CL E G H	5830	44	MYBPC1-related condition			ORPHA	1	14	9719	600414
HP:0000505	HP:0000505	Visual impairment	0	PEX6 CL E G H	5190	912				ORPHA	1	109	8859	601498
HP:0000505	HP:0000505	Visual impairment	0	PEX6 CL E G H	5190	44	MYBPC1-related condition			ORPHA	1	109	8859	601498
HP:0000505	HP:0000505	Visual impairment	0	PEX6 CL E G H	5190	614863	Peroxisome biogenesis disorder 4B	614863	C3553937	OMIM	1	109	8859	601498
HP:0000505	HP:0000505	Visual impairment	0	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	29	18145	300414
HP:0000505	HP:0000505	Visual impairment	0	PHOX2A CL E G H	401	602078	Fibrosis of extraocular muscles, congenital, 2	602078	C1865915	OMIM	1	5	691	602753
HP:0000505	HP:0000505	Visual impairment	0	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	32	26270	613629
HP:0000505	HP:0000505	Visual impairment	0	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	12	14938	610272
HP:0000505	HP:0000505	Visual impairment	0	PITX3 CL E G H	5309	88632				ORPHA	1	15	9006	602669
HP:0000505	HP:0000505	Visual impairment	0	PLA2G6 CL E G H	8398	35069				ORPHA	1	179	9039	603604
HP:0000505	HP:0000505	Visual impairment	0	PLK4 CL E G H	10733	2518				ORPHA	1	6	11397	605031
HP:0000505	HP:0000505	Visual impairment	0	PLK4 CL E G H	10733	616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	616171	C4015388	OMIM	1	6	11397	605031
HP:0000505	HP:0000505	Visual impairment	0	PLOD1 CL E G H	5351	1900				ORPHA	1	42	9081	153454
HP:0000505	HP:0000505	Visual impairment	0	POLA1 CL E G H	5422	301220	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	301220	C1845050	OMIM	1	2	9173	312040
HP:0000505	HP:0000505	Visual impairment	0	POLR1C CL E G H	9533	861				ORPHA	1	21	20194	610060
HP:0000505	HP:0000505	Visual impairment	0	POLR1D CL E G H	51082	861				ORPHA	1	26	20422	613715
HP:0000505	HP:0000505	Visual impairment	0	POMGNT1 CL E G H	55624	588				ORPHA	1	89	19139	606822
HP:0000505	HP:0000505	Visual impairment	0	POMT1 CL E G H	10585	588				ORPHA	1	96	9202	607423
HP:0000505	HP:0000505	Visual impairment	0	POMT2 CL E G H	29954	588				ORPHA	1	75	19743	607439
HP:0000505	HP:0000505	Visual impairment	0	PRDX1 CL E G H	5052	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	3	9352	176763
HP:0000505	HP:0000505	Visual impairment	0	PRNP CL E G H	5621	123400	Jakob-Creutzfeldt disease	123400	C0022336	OMIM	1	109	9449	176640
HP:0000505	HP:0000505	Visual impairment	0	PROKR2 CL E G H	128674	3157	Lachiewicz Sibley syndrome			ORPHA	1	83	15836	607123
HP:0000505	HP:0000505	Visual impairment	0	PRPS1 CL E G H	5631	1187	Cerebellar agenesis			ORPHA	1	32	9462	311850
HP:0000505	HP:0000505	Visual impairment	0	PTPN22 CL E G H	26191	3437				ORPHA	1	14	9652	600716
HP:0000505	HP:0000505	Visual impairment	0	RAB11B CL E G H	9230	617807	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER	617807	C4540498	OMIM	1	2	9761	604198
HP:0000505	HP:0000505	Visual impairment	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	4	9970	600404
HP:0000505	HP:0000505	Visual impairment	0	RFT1 CL E G H	91869	244310				ORPHA	1	13	30220	611908
HP:0000505	HP:0000505	Visual impairment	0	RGS9 CL E G H	8787	75374				ORPHA	1	3	10004	604067
HP:0000505	HP:0000505	Visual impairment	0	RGS9BP CL E G H	388531	75374				ORPHA	1	7	30304	607814
HP:0000505	HP:0000505	Visual impairment	0	RIMS1 CL E G H	22999	603649	Cone-rod dystrophy 7	603649	C1863634	OMIM	1	12	17282	606629
HP:0000505	HP:0000505	Visual impairment	0	RMRP CL E G H	6023	175				ORPHA	1	123	10031	157660
HP:0000505	HP:0000505	Visual impairment	0	RPE65 CL E G H	6121	613794	Retinitis pigmentosa 20	613794	C3151086	OMIM	1	208	10294	180069
HP:0000505	HP:0000505	Visual impairment	0	RPGR CL E G H	6103	304020	Cone-rod dystrophy, X-linked 1	304020	C1844776	OMIM	1	245	10295	312610
HP:0000505	HP:0000505	Visual impairment	0	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	1	51	29168	610937
HP:0000505	HP:0000505	Visual impairment	0	SAG CL E G H	6295	613758	Retinitis pigmentosa 47	613758	C3151061	OMIM	1	16	10521	181031
HP:0000505	HP:0000505	Visual impairment	0	SALL4 CL E G H	57167	959				ORPHA	1	57	15924	607343
HP:0000505	HP:0000505	Visual impairment	0	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	91	10680	600857
HP:0000505	HP:0000505	Visual impairment	0	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	6	33867	612848
HP:0000505	HP:0000505	Visual impairment	0	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	174	10683	602690
HP:0000505	HP:0000505	Visual impairment	0	SETBP1 CL E G H	26040	798				ORPHA	1	47	15573	611060
HP:0000505	HP:0000505	Visual impairment	0	SFXN4 CL E G H	119559	615578	Combined oxidative phosphorylation deficiency 18	615578	C3810001	OMIM	1	4	16088	615564
HP:0000505	HP:0000505	Visual impairment	0	SLC45A2 CL E G H	51151	79435				ORPHA	1	161	16472	606202
HP:0000505	HP:0000505	Visual impairment	0	SLC45A2 CL E G H	51151	606574	Oculocutaneous albinism type 4	606574	C1847836	OMIM	1	161	16472	606202
HP:0000505	HP:0000505	Visual impairment	0	SLC4A11 CL E G H	83959	1490	Congenital ichtyosiform erythroderma			ORPHA	1	95	16438	610206
HP:0000505	HP:0000505	Visual impairment	0	SLC4A11 CL E G H	83959	613268	Corneal dystrophy, Fuchs endothelial, 4	613268	C2750450	OMIM	1	95	16438	610206
HP:0000505	HP:0000505	Visual impairment	0	SMARCB1 CL E G H	6598	614608	Mental retardation, autosomal dominant 15	614608	C3553248	OMIM	1	119	11103	601607
HP:0000505	HP:0000505	Visual impairment	0	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	2	25763	613176
HP:0000505	HP:0000505	Visual impairment	0	SNRNP200 CL E G H	23020	610359	Retinitis pigmentosa 33	610359	C1835895	OMIM	1	35	30859	601664
HP:0000505	HP:0000505	Visual impairment	0	SNX10 CL E G H	29887	667				ORPHA	1	13	14974	614780
HP:0000505	HP:0000505	Visual impairment	0	SOX2 CL E G H	6657	3157	Lachiewicz Sibley syndrome			ORPHA	1	105	11195	184429
HP:0000505	HP:0000505	Visual impairment	0	SOX3 CL E G H	6658	3157	Lachiewicz Sibley syndrome			ORPHA	1	28	11199	313430
HP:0000505	HP:0000505	Visual impairment	0	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	293	11226	610844
HP:0000505	HP:0000505	Visual impairment	0	SUCLA2 CL E G H	8803	1933				ORPHA	1	29	11448	603921
HP:0000505	HP:0000505	Visual impairment	0	SUMF1 CL E G H	285362	585				ORPHA	1	55	20376	607939
HP:0000505	HP:0000505	Visual impairment	0	SYNJ1 CL E G H	8867	617389	Epileptic encephalopathy, early infantile, 53	617389	C4479313	OMIM	1	27	11503	604297
HP:0000505	HP:0000505	Visual impairment	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1		11586	605842
HP:0000505	HP:0000505	Visual impairment	0	TCIRG1 CL E G H	10312	667				ORPHA	1	137	11647	604592
HP:0000505	HP:0000505	Visual impairment	0	TCOF1 CL E G H	6949	861				ORPHA	1	333	11654	606847
HP:0000505	HP:0000505	Visual impairment	0	TGFBI CL E G H	7045	608471	Lattice corneal dystrophy type 3A	608471	C1837974	OMIM	1	70	11771	601692
HP:0000505	HP:0000505	Visual impairment	0	TIMM8A CL E G H	1678	304700	Mohr-Tranebjaerg syndrome	304700	C0796074	OMIM	1	22	11817	300356
HP:0000505	HP:0000505	Visual impairment	0	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	8	25018	613277
HP:0000505	HP:0000505	Visual impairment	0	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	1	174	28396	609884
HP:0000505	HP:0000505	Visual impairment	0	TNFSF11 CL E G H	8600	667				ORPHA	1	16	11926	602642
HP:0000505	HP:0000505	Visual impairment	0	TP53RK CL E G H	112858	617730	GALLOWAY-MOWAT SYNDROME 4	617730	C4540270	OMIM	1	5	16197	608679
HP:0000505	HP:0000505	Visual impairment	0	TRAPPC11 CL E G H	60684	869				ORPHA	1	17	25751	614138
HP:0000505	HP:0000505	Visual impairment	0	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	71	12269	606609
HP:0000505	HP:0000505	Visual impairment	0	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	5	28422	608753
HP:0000505	HP:0000505	Visual impairment	0	TSEN34 CL E G H	79042	612390	Pontocerebellar hypoplasia type 2C	612390	C2676465	OMIM	1	2	15506	608754
HP:0000505	HP:0000505	Visual impairment	0	TSEN54 CL E G H	283989	277470	Pontocerebellar hypoplasia type 2A	277470	C1848526	OMIM	1	21	27561	608755
HP:0000505	HP:0000505	Visual impairment	0	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	7	12367	604723
HP:0000505	HP:0000505	Visual impairment	0	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	151	12405	176300
HP:0000505	HP:0000505	Visual impairment	0	TUBB4A CL E G H	10382	612438	Leukodystrophy, hypomyelinating, 6	612438	C2676244	OMIM	1	42	20774	602662
HP:0000505	HP:0000505	Visual impairment	0	TUBGCP4 CL E G H	27229	2518				ORPHA	1	6	16691	609610
HP:0000505	HP:0000505	Visual impairment	0	TUBGCP6 CL E G H	85378	2518				ORPHA	1	7	18127	610053
HP:0000505	HP:0000505	Visual impairment	0	TUBGCP6 CL E G H	85378	251270	Microcephaly with chorioretinopathy, autosomal recessive	251270	C3278481	OMIM	1	7	18127	610053
HP:0000505	HP:0000505	Visual impairment	0	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	1	9	20670	607556
HP:0000505	HP:0000505	Visual impairment	0	TYR CL E G H	7299	79434				ORPHA	1	445	12442	606933
HP:0000505	HP:0000505	Visual impairment	0	TYR CL E G H	7299	79431				ORPHA	1	445	12442	606933
HP:0000505	HP:0000505	Visual impairment	0	TYR CL E G H	7299	103470	Albinism, ocular, with sensorineural deafness	103470	C1863198	OMIM	1	445	12442	606933
HP:0000505	HP:0000505	Visual impairment	0	TYR CL E G H	7299	606952	Oculocutaneous albinism type 1B	606952	C1847024	OMIM	1	445	12442	606933
HP:0000505	HP:0000505	Visual impairment	0	VPS13B CL E G H	157680	216550	Cohen syndrome	216550	C0265223	OMIM	1	213	2183	607817
HP:0000505	HP:0000505	Visual impairment	0	WT1 CL E G H	7490	893				ORPHA	1	184	12796	607102
HP:0000505	HP:0000505	Visual impairment	0	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	45	20761	612012
HP:0000505	HP:0000505	Visual impairment	1	AAAS CL E G H	8086	869				ORPHA	1	79	13666	605378
HP:0000505	HP:0000505	Visual impairment	1	ABCA1 CL E G H	19	205400	Tangier disease	205400	C0039292	OMIM	1	240	29	600046
HP:0000505	HP:0000505	Visual impairment	1	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	380	57	603234
HP:0000505	HP:0000505	Visual impairment	1	ADAM9 CL E G H	8754	612775	Cone-rod dystrophy 9	612775	C1423873	OMIM	1	11	216	602713
HP:0000505	HP:0000505	Visual impairment	1	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	68	15766	611386
HP:0000505	HP:0000505	Visual impairment	1	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	96	21575	608894
HP:0000505	HP:0000505	Visual impairment	1	AIMP1 CL E G H	9255	260600	Leukodystrophy, hypomyelinating 3	260600	C1850053	OMIM	1	5	10648	603605
HP:0000505	HP:0000505	Visual impairment	1	AIRE CL E G H	326	3453	Meier Rotschild syndrome			ORPHA	1	141	360	607358
HP:0000505	HP:0000505	Visual impairment	1	ALG2 CL E G H	85365	607906	Congenital disorder of glycosylation type 1I	607906	C1842836	OMIM	1	5	23159	607905
HP:0000505	HP:0000505	Visual impairment	1	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	14	451	604489
HP:0000505	HP:0000505	Visual impairment	1	ANTXR1 CL E G H	84168	2067				ORPHA	1	14	21014	606410
HP:0000505	HP:0000505	Visual impairment	1	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1	35	566	603401
HP:0000505	HP:0000505	Visual impairment	1	AP3D1 CL E G H	8943	284804				ORPHA	1	4	568	607246
HP:0000505	HP:0000505	Visual impairment	1	ARID1A CL E G H	8289	614607	Mental retardation, autosomal dominant 14	614607	C3553247	OMIM	1	36	11110	603024
HP:0000505	HP:0000505	Visual impairment	1	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	188	18040	614556
HP:0000505	HP:0000505	Visual impairment	1	ARNT2 CL E G H	9915	3157	Lachiewicz Sibley syndrome			ORPHA	1	6	16876	606036
HP:0000505	HP:0000505	Visual impairment	1	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	98	18060	300382
HP:0000505	HP:0000505	Visual impairment	1	B3GALNT2 CL E G H	148789	588				ORPHA	1	16	28596	610194
HP:0000505	HP:0000505	Visual impairment	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	5	961	605681
HP:0000505	HP:0000505	Visual impairment	1	BDNF CL E G H	627	893				ORPHA	1	35	1033	113505
HP:0000505	HP:0000505	Visual impairment	1	BEST1 CL E G H	7439	153700	Vitelliform macular dystrophy type 2	153700	C0339510	OMIM	1	319	12703	607854
HP:0000505	HP:0000505	Visual impairment	1	BLOC1S3 CL E G H	388552	614077	Hermansky-Pudlak syndrome 8	614077	C3888026	OMIM	1	4	20914	609762
HP:0000505	HP:0000505	Visual impairment	1	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1	11	26784	613541
HP:0000505	HP:0000505	Visual impairment	1	CA2 CL E G H	760	259730	Osteopetrosis with renal tubular acidosis	259730	C0345407	OMIM	1	31	1373	611492
HP:0000505	HP:0000505	Visual impairment	1	CABP4 CL E G H	57010	610427	Congenital stationary night blindness, type 2B	610427	C1864877	OMIM	1	13	1386	608965
HP:0000505	HP:0000505	Visual impairment	1	CACNA1F CL E G H	778	300071	Congenital stationary night blindness, type 2A	300071	C1848172	OMIM	1	185	1393	300110
HP:0000505	HP:0000505	Visual impairment	1	CACNA2D4 CL E G H	93589	610478	Retinal cone dystrophy 4	610478	C1864849	OMIM	1	9	20202	608171
HP:0000505	HP:0000505	Visual impairment	1	CAMK2B CL E G H	816	617799	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54	617799	C4540484	OMIM	1	11	1461	607707
HP:0000505	HP:0000505	Visual impairment	1	CARS2 CL E G H	79587	616672	Combined oxidative phosphorylation deficiency 27	616672	C4225251	OMIM	1	4	25695	612800
HP:0000505	HP:0000505	Visual impairment	1	CASK CL E G H	8573	163937				ORPHA	1	119	1497	300172
HP:0000505	HP:0000505	Visual impairment	1	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	96	29253	612013
HP:0000505	HP:0000505	Visual impairment	1	CEP290 CL E G H	80184	611755	Leber congenital amaurosis 10	611755	C1857821	OMIM	1	310	29021	610142
HP:0000505	HP:0000505	Visual impairment	1	CEP290 CL E G H	80184	610189	Senior-Loken syndrome 6	610189	C1857779	OMIM	1	310	29021	610142
HP:0000505	HP:0000505	Visual impairment	1	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	7	26877	616174
HP:0000505	HP:0000505	Visual impairment	1	CLCN7 CL E G H	1186	667				ORPHA	1	100	2025	602727
HP:0000505	HP:0000505	Visual impairment	1	CLCN7 CL E G H	1186	611490	Osteopetrosis autosomal recessive 4	611490	C1969106	OMIM	1	100	2025	602727
HP:0000505	HP:0000505	Visual impairment	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	2586	603432
HP:0000505	HP:0000505	Visual impairment	1	CLRN1 CL E G H	7401	614180	Retinitis pigmentosa 61	614180	C3280041	OMIM	1	39	12605	606397
HP:0000505	HP:0000505	Visual impairment	1	CNGB3 CL E G H	54714	1871	Dionisi Vici Sabetta Gambarara syndrome			ORPHA	1	126	2153	605080
HP:0000505	HP:0000505	Visual impairment	1	CNNM4 CL E G H	26504	1873	Diphallus rachischisis imperforate anus			ORPHA	1	24	105	607805
HP:0000505	HP:0000505	Visual impairment	1	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	21	8011	602346
HP:0000505	HP:0000505	Visual impairment	1	COL17A1 CL E G H	1308	122400	Epithelial recurrent erosion dystrophy	122400	C1852551	OMIM	1	114	2194	113811
HP:0000505	HP:0000505	Visual impairment	1	COQ7 CL E G H	10229	616733	Coenzyme Q10 deficiency, primary, 8	616733	C4225226	OMIM	1	5	2244	601683
HP:0000505	HP:0000505	Visual impairment	1	CRB1 CL E G H	23418	613835	Leber congenital amaurosis 8	613835	C3151202	OMIM	1	347	2343	604210
HP:0000505	HP:0000505	Visual impairment	1	CRX CL E G H	1406	613829	Leber congenital amaurosis 7	613829	C3151192	OMIM	1	107	2383	602225
HP:0000505	HP:0000505	Visual impairment	1	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	30	29419	612799
HP:0000505	HP:0000505	Visual impairment	1	EFEMP1 CL E G H	2202	126600	Doyne honeycomb retinal dystrophy	126600	C1832174	OMIM	1	9	3218	601548
HP:0000505	HP:0000505	Visual impairment	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	127	3327	130160
HP:0000505	HP:0000505	Visual impairment	1	ERCC1 CL E G H	2067	1466				ORPHA	1	8	3433	126380
HP:0000505	HP:0000505	Visual impairment	1	ERCC2 CL E G H	2068	1466				ORPHA	1	108	3434	126340
HP:0000505	HP:0000505	Visual impairment	1	ERCC4 CL E G H	2072	610965	XFE progeroid syndrome	610965	C1970416	OMIM	1	72	3436	133520
HP:0000505	HP:0000505	Visual impairment	1	ERCC5 CL E G H	2073	1466				ORPHA	1	59	3437	133530
HP:0000505	HP:0000505	Visual impairment	1	ERCC6 CL E G H	2074	1466				ORPHA	1	140	3438	609413
HP:0000505	HP:0000505	Visual impairment	1	EXOSC8 CL E G H	11340	616081	Pontocerebellar hypoplasia, type 1c	616081	C4015160	OMIM	1	3	17035	606019
HP:0000505	HP:0000505	Visual impairment	1	FAS CL E G H	355	3437				ORPHA	1	142	11920	134637
HP:0000505	HP:0000505	Visual impairment	1	FDXR CL E G H	2232	617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	617717	C4521678	OMIM	1	19	3642	103270
HP:0000505	HP:0000505	Visual impairment	1	FGFR1 CL E G H	2260	3157	Lachiewicz Sibley syndrome			ORPHA	1	265	3688	136350
HP:0000505	HP:0000505	Visual impairment	1	FGFR2 CL E G H	2263	123500	Crouzon syndrome	123500	C0010273	OMIM	1	159	3689	176943
HP:0000505	HP:0000505	Visual impairment	1	FH CL E G H	2271	606812	Fumarase deficiency	606812	C0342770	OMIM	1	216	3700	136850
HP:0000505	HP:0000505	Visual impairment	1	FKRP CL E G H	79147	588				ORPHA	1	141	17997	606596
HP:0000505	HP:0000505	Visual impairment	1	FKTN CL E G H	2218	588				ORPHA	1	59	3622	607440
HP:0000505	HP:0000505	Visual impairment	1	FOXE3 CL E G H	2301	88632				ORPHA	1	31	3808	601094
HP:0000505	HP:0000505	Visual impairment	1	FSCN2 CL E G H	25794	607921	Retinitis pigmentosa 30	607921	C1842816	OMIM	1	15	3960	607643
HP:0000505	HP:0000505	Visual impairment	1	GDF3 CL E G H	9573	613703	Microphthalmia, isolated, with coloboma 6	613703	C3150968	OMIM	1	6	4218	606522
HP:0000505	HP:0000505	Visual impairment	1	GDF6 CL E G H	392255	613703	Microphthalmia, isolated, with coloboma 6	613703	C3150968	OMIM	1	21	4221	601147
HP:0000505	HP:0000505	Visual impairment	1	GJA1 CL E G H	2697	2710	Hm syndrome			ORPHA	1	109	4274	121014
HP:0000505	HP:0000505	Visual impairment	1	GLRX5 CL E G H	51218	401866				ORPHA	1	6	20134	609588
HP:0000505	HP:0000505	Visual impairment	1	GLRX5 CL E G H	51218	616859	Spasticity, childhood-onset, with hyperglycinemia	616859	C4225178	OMIM	1	6	20134	609588
HP:0000505	HP:0000505	Visual impairment	1	GMPPA CL E G H	29926	869				ORPHA	1	12	22923	615495
HP:0000505	HP:0000505	Visual impairment	1	GMPPB CL E G H	29925	588				ORPHA	1	49	22932	615320
HP:0000505	HP:0000505	Visual impairment	1	GNAT2 CL E G H	2780	613856	Achromatopsia 4	613856	C1841721	OMIM	1	16	4394	139340
HP:0000505	HP:0000505	Visual impairment	1	GNAT2 CL E G H	2780	1871	Dionisi Vici Sabetta Gambarara syndrome			ORPHA	1	16	4394	139340
HP:0000505	HP:0000505	Visual impairment	1	GPR143 CL E G H	4935	300500	Ocular albinism, type I	300500	C0342684	OMIM	1	181	20145	300808
HP:0000505	HP:0000505	Visual impairment	1	GRN CL E G H	2896	614706	Ceroid lipofuscinosis, neuronal, 11	614706	C3539123	OMIM	1	231	4601	138945
HP:0000505	HP:0000505	Visual impairment	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	4659	601679
HP:0000505	HP:0000505	Visual impairment	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	6	4661	604318
HP:0000505	HP:0000505	Visual impairment	1	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	5	4670	607434
HP:0000505	HP:0000505	Visual impairment	1	GUCA1A CL E G H	2978	1871	Dionisi Vici Sabetta Gambarara syndrome			ORPHA	1	23	4678	600364
HP:0000505	HP:0000505	Visual impairment	1	GUCA1B CL E G H	2979	613827	Retinitis pigmentosa 48	613827	C3151190	OMIM	1	7	4679	602275
HP:0000505	HP:0000505	Visual impairment	1	HARS CL E G H	3035	614504	Usher syndrome, type 3B	614504	C3281066	OMIM	1	13	4816	142810
HP:0000505	HP:0000505	Visual impairment	1	HESX1 CL E G H	8820	3157	Lachiewicz Sibley syndrome			ORPHA	1	27	4877	601802
HP:0000505	HP:0000505	Visual impairment	1	HPS3 CL E G H	84343	614072	Hermansky-Pudlak syndrome 3	614072	C3888001	OMIM	1	17	15597	606118
HP:0000505	HP:0000505	Visual impairment	1	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	101	5213	601860
HP:0000505	HP:0000505	Visual impairment	1	HSPG2 CL E G H	3339	800				ORPHA	1	67	5273	142461
HP:0000505	HP:0000505	Visual impairment	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	23	27302	615316
HP:0000505	HP:0000505	Visual impairment	1	IGBP1 CL E G H	3476	300472	Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia	300472	C1845446	OMIM	1	2	5461	300139
HP:0000505	HP:0000505	Visual impairment	1	IKBKG CL E G H	8517	464	Achromatopsia incomplete X-linked		CN036572	ORPHA	1	151	5961	300248
HP:0000505	HP:0000505	Visual impairment	1	IMPDH1 CL E G H	3614	613837	Leber congenital amaurosis 11	613837	C1840284	OMIM	1	24	6052	146690
HP:0000505	HP:0000505	Visual impairment	1	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	54	21474	613037
HP:0000505	HP:0000505	Visual impairment	1	ISCA2 CL E G H	122961	616370	Multiple mitochondrial dysfunctions syndrome 4	616370	C4225348	OMIM	1	3	19857	615317
HP:0000505	HP:0000505	Visual impairment	1	ITPR1 CL E G H	3708	206700	Gillespie syndrome	206700	C0431401	OMIM	1	95	6180	147265
HP:0000505	HP:0000505	Visual impairment	1	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	103	6501	309060
HP:0000505	HP:0000505	Visual impairment	1	LARGE1 CL E G H	9215	588				ORPHA	1	28	6511	603590
HP:0000505	HP:0000505	Visual impairment	1	LCA5 CL E G H	167691	604537	Leber congenital amaurosis 5	604537	C1858301	OMIM	1	49	31923	611408
HP:0000505	HP:0000505	Visual impairment	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	7	6613	601329
HP:0000505	HP:0000505	Visual impairment	1	LRPAP1 CL E G H	4043	615431	Myopia 23, autosomal recessive	615431	C3809482	OMIM	1	5	6701	104225
HP:0000505	HP:0000505	Visual impairment	1	LYST CL E G H	1130	214500	Chédiak-Higashi syndrome	214500	C0007965	OMIM	1	102	1968	606897
HP:0000505	HP:0000505	Visual impairment	1	MBD5 CL E G H	55777	156200	Mental retardation, autosomal dominant 1	156200	C1969562	OMIM	1	91	20444	611472
HP:0000505	HP:0000505	Visual impairment	1	MC1R CL E G H	4157	79432				ORPHA	1	109	6929	155555
HP:0000505	HP:0000505	Visual impairment	1	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	36	13356	605248
HP:0000505	HP:0000505	Visual impairment	1	MECR CL E G H	51102	617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	617282	C4310634	OMIM	1	6	19691	608205
HP:0000505	HP:0000505	Visual impairment	1	MFF CL E G H	56947	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	617086	C4310726	OMIM	1	4	24858	614785
HP:0000505	HP:0000505	Visual impairment	1	MICOS13 CL E G H	125988	67047				ORPHA	1		33702	616658
HP:0000505	HP:0000505	Visual impairment	1	MITF CL E G H	4286	103470	Albinism, ocular, with sensorineural deafness	103470	C1863198	OMIM	1	61	7105	156845
HP:0000505	HP:0000505	Visual impairment	1	MMACHC CL E G H	25974	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	95	24525	609831
HP:0000505	HP:0000505	Visual impairment	1	NOTCH3 CL E G H	4854	136				ORPHA	1	379	7883	600276
HP:0000505	HP:0000505	Visual impairment	1	NRL CL E G H	4901	613750	Retinitis pigmentosa 27	613750	C1834329	OMIM	1	25	8002	162080
HP:0000505	HP:0000505	Visual impairment	1	NTRK2 CL E G H	4915	617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58	617830	CN757795	OMIM	1	13	8032	600456
HP:0000505	HP:0000505	Visual impairment	1	NUS1 CL E G H	116150	617082	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa	617082	C4310727	OMIM	1	22	21042	610463
HP:0000505	HP:0000505	Visual impairment	1	OCA2 CL E G H	4948	79432				ORPHA	1	316	8101	611409
HP:0000505	HP:0000505	Visual impairment	1	OCRL CL E G H	4952	309000	Lowe syndrome	309000	C0028860	OMIM	1	264	8108	300535
HP:0000505	HP:0000505	Visual impairment	1	OPA1 CL E G H	4976	1215	Cerebro reno digital syndrome			ORPHA	1	394	8140	605290
HP:0000505	HP:0000505	Visual impairment	1	OPA3 CL E G H	80207	67047				ORPHA	1	15	8142	606580
HP:0000505	HP:0000505	Visual impairment	1	OPA3 CL E G H	80207	258501	3-Methylglutaconic aciduria type 3	258501	C0574084	OMIM	1	15	8142	606580
HP:0000505	HP:0000505	Visual impairment	1	OPN1LW CL E G H	5956	303700	Cone monochromatism	303700	C0339537	OMIM	1	63	9936	300822
HP:0000505	HP:0000505	Visual impairment	1	OPN1MW CL E G H	2652	303700	Cone monochromatism	303700	C0339537	OMIM	1	21	4206	300821
HP:0000505	HP:0000505	Visual impairment	1	OSGEP CL E G H	55644	617729	GALLOWAY-MOWAT SYNDROME 3	617729	C4540266	OMIM	1	17	18028	610107
HP:0000505	HP:0000505	Visual impairment	1	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	9	21652	607649
HP:0000505	HP:0000505	Visual impairment	1	OTX2 CL E G H	5015	3157	Lachiewicz Sibley syndrome			ORPHA	1	78	8522	600037
HP:0000505	HP:0000505	Visual impairment	1	PAX2 CL E G H	5076	1475	Congenital bronchobiliary fistula			ORPHA	1	98	8616	167409
HP:0000505	HP:0000505	Visual impairment	1	PAX6 CL E G H	5080	893				ORPHA	1	571	8620	607108
HP:0000505	HP:0000505	Visual impairment	1	PAX6 CL E G H	5080	136520	Foveal hypoplasia and presenile cataract syndrome	136520	C3805604	OMIM	1	571	8620	607108
HP:0000505	HP:0000505	Visual impairment	1	PAX6 CL E G H	5080	165550	Optic nerve hypoplasia, bilateral	165550	C1833797	OMIM	1	571	8620	607108
HP:0000505	HP:0000505	Visual impairment	1	PCARE CL E G H	388939	613428	Retinitis pigmentosa 54	613428	C3150691	OMIM	1	53	34383	613425
HP:0000505	HP:0000505	Visual impairment	1	PDE6C CL E G H	5146	613093	Cone dystrophy 4	613093	C2751308	OMIM	1	58	8787	600827
HP:0000505	HP:0000505	Visual impairment	1	PDE6C CL E G H	5146	1871	Dionisi Vici Sabetta Gambarara syndrome			ORPHA	1	58	8787	600827
HP:0000505	HP:0000505	Visual impairment	1	PEPD CL E G H	5184	742	Aortic dissection lentiginosis			ORPHA	1	31	8840	613230
HP:0000505	HP:0000505	Visual impairment	1	PEX1 CL E G H	5189	912				ORPHA	1	140	8850	602136
HP:0000505	HP:0000505	Visual impairment	1	PEX1 CL E G H	5189	44	MYBPC1-related condition			ORPHA	1	140	8850	602136
HP:0000505	HP:0000505	Visual impairment	1	PEX10 CL E G H	5192	912				ORPHA	1	32	8851	602859
HP:0000505	HP:0000505	Visual impairment	1	PEX10 CL E G H	5192	44	MYBPC1-related condition			ORPHA	1	32	8851	602859
HP:0000505	HP:0000505	Visual impairment	1	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	32	8851	602859
HP:0000505	HP:0000505	Visual impairment	1	PEX11B CL E G H	8799	912				ORPHA	1	8	8853	603867
HP:0000505	HP:0000505	Visual impairment	1	PEX11B CL E G H	8799	44	MYBPC1-related condition			ORPHA	1	8	8853	603867
HP:0000505	HP:0000505	Visual impairment	1	PEX12 CL E G H	5193	912				ORPHA	1	37	8854	601758
HP:0000505	HP:0000505	Visual impairment	1	PEX12 CL E G H	5193	44	MYBPC1-related condition			ORPHA	1	37	8854	601758
HP:0000505	HP:0000505	Visual impairment	1	PEX13 CL E G H	5194	912				ORPHA	1	10	8855	601789
HP:0000505	HP:0000505	Visual impairment	1	PEX13 CL E G H	5194	44	MYBPC1-related condition			ORPHA	1	10	8855	601789
HP:0000505	HP:0000505	Visual impairment	1	PEX14 CL E G H	5195	912				ORPHA	1	5	8856	601791
HP:0000505	HP:0000505	Visual impairment	1	PEX14 CL E G H	5195	44	MYBPC1-related condition			ORPHA	1	5	8856	601791
HP:0000505	HP:0000505	Visual impairment	1	PEX16 CL E G H	9409	912				ORPHA	1	15	8857	603360
HP:0000505	HP:0000505	Visual impairment	1	PEX16 CL E G H	9409	44	MYBPC1-related condition			ORPHA	1	15	8857	603360
HP:0000505	HP:0000505	Visual impairment	1	PEX16 CL E G H	9409	614877	Peroxisome biogenesis disorder 8B	614877	C3553960	OMIM	1	15	8857	603360
HP:0000505	HP:0000505	Visual impairment	1	PEX19 CL E G H	5824	912				ORPHA	1	4	9713	600279
HP:0000505	HP:0000505	Visual impairment	1	PEX19 CL E G H	5824	44	MYBPC1-related condition			ORPHA	1	4	9713	600279
HP:0000505	HP:0000505	Visual impairment	1	PEX2 CL E G H	5828	912				ORPHA	1	18	9717	170993
HP:0000505	HP:0000505	Visual impairment	1	PEX2 CL E G H	5828	44	MYBPC1-related condition			ORPHA	1	18	9717	170993
HP:0000505	HP:0000505	Visual impairment	1	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	18	9717	170993
HP:0000505	HP:0000505	Visual impairment	1	PEX26 CL E G H	55670	912				ORPHA	1	27	22965	608666
HP:0000505	HP:0000505	Visual impairment	1	PEX26 CL E G H	55670	44	MYBPC1-related condition			ORPHA	1	27	22965	608666
HP:0000505	HP:0000505	Visual impairment	1	PEX26 CL E G H	55670	614873	Peroxisome biogenesis disorder 7B	614873	C3553951	OMIM	1	27	22965	608666
HP:0000505	HP:0000505	Visual impairment	1	PEX3 CL E G H	8504	912				ORPHA	1	10	8858	603164
HP:0000505	HP:0000505	Visual impairment	1	PEX3 CL E G H	8504	44	MYBPC1-related condition			ORPHA	1	10	8858	603164
HP:0000505	HP:0000505	Visual impairment	1	PEX5 CL E G H	5830	912				ORPHA	1	14	9719	600414
HP:0000505	HP:0000505	Visual impairment	1	PEX5 CL E G H	5830	44	MYBPC1-related condition			ORPHA	1	14	9719	600414
HP:0000505	HP:0000505	Visual impairment	1	PEX6 CL E G H	5190	912				ORPHA	1	109	8859	601498
HP:0000505	HP:0000505	Visual impairment	1	PEX6 CL E G H	5190	44	MYBPC1-related condition			ORPHA	1	109	8859	601498
HP:0000505	HP:0000505	Visual impairment	1	PEX6 CL E G H	5190	614863	Peroxisome biogenesis disorder 4B	614863	C3553937	OMIM	1	109	8859	601498
HP:0000505	HP:0000505	Visual impairment	1	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	29	18145	300414
HP:0000505	HP:0000505	Visual impairment	1	PHOX2A CL E G H	401	602078	Fibrosis of extraocular muscles, congenital, 2	602078	C1865915	OMIM	1	5	691	602753
HP:0000505	HP:0000505	Visual impairment	1	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	32	26270	613629
HP:0000505	HP:0000505	Visual impairment	1	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	12	14938	610272
HP:0000505	HP:0000505	Visual impairment	1	PITX3 CL E G H	5309	88632				ORPHA	1	15	9006	602669
HP:0000505	HP:0000505	Visual impairment	1	PLA2G6 CL E G H	8398	35069				ORPHA	1	179	9039	603604
HP:0000505	HP:0000505	Visual impairment	1	PLK4 CL E G H	10733	2518				ORPHA	1	6	11397	605031
HP:0000505	HP:0000505	Visual impairment	1	PLK4 CL E G H	10733	616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	616171	C4015388	OMIM	1	6	11397	605031
HP:0000505	HP:0000505	Visual impairment	1	PLOD1 CL E G H	5351	1900				ORPHA	1	42	9081	153454
HP:0000505	HP:0000505	Visual impairment	1	POLA1 CL E G H	5422	301220	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	301220	C1845050	OMIM	1	2	9173	312040
HP:0000505	HP:0000505	Visual impairment	1	POLR1C CL E G H	9533	861				ORPHA	1	21	20194	610060
HP:0000505	HP:0000505	Visual impairment	1	POLR1D CL E G H	51082	861				ORPHA	1	26	20422	613715
HP:0000505	HP:0000505	Visual impairment	1	POMGNT1 CL E G H	55624	588				ORPHA	1	89	19139	606822
HP:0000505	HP:0000505	Visual impairment	1	POMT1 CL E G H	10585	588				ORPHA	1	96	9202	607423
HP:0000505	HP:0000505	Visual impairment	1	POMT2 CL E G H	29954	588				ORPHA	1	75	19743	607439
HP:0000505	HP:0000505	Visual impairment	1	PRDX1 CL E G H	5052	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	3	9352	176763
HP:0000505	HP:0000505	Visual impairment	1	PRNP CL E G H	5621	123400	Jakob-Creutzfeldt disease	123400	C0022336	OMIM	1	109	9449	176640
HP:0000505	HP:0000505	Visual impairment	1	PROKR2 CL E G H	128674	3157	Lachiewicz Sibley syndrome			ORPHA	1	83	15836	607123
HP:0000505	HP:0000505	Visual impairment	1	PRPS1 CL E G H	5631	1187	Cerebellar agenesis			ORPHA	1	32	9462	311850
HP:0000505	HP:0000505	Visual impairment	1	PTPN22 CL E G H	26191	3437				ORPHA	1	14	9652	600716
HP:0000505	HP:0000505	Visual impairment	1	RAB11B CL E G H	9230	617807	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER	617807	C4540498	OMIM	1	2	9761	604198
HP:0000505	HP:0000505	Visual impairment	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	4	9970	600404
HP:0000505	HP:0000505	Visual impairment	1	RFT1 CL E G H	91869	244310				ORPHA	1	13	30220	611908
HP:0000505	HP:0000505	Visual impairment	1	RGS9 CL E G H	8787	75374				ORPHA	1	3	10004	604067
HP:0000505	HP:0000505	Visual impairment	1	RGS9BP CL E G H	388531	75374				ORPHA	1	7	30304	607814
HP:0000505	HP:0000505	Visual impairment	1	RIMS1 CL E G H	22999	603649	Cone-rod dystrophy 7	603649	C1863634	OMIM	1	12	17282	606629
HP:0000505	HP:0000505	Visual impairment	1	RMRP CL E G H	6023	175				ORPHA	1	123	10031	157660
HP:0000505	HP:0000505	Visual impairment	1	RPE65 CL E G H	6121	613794	Retinitis pigmentosa 20	613794	C3151086	OMIM	1	208	10294	180069
HP:0000505	HP:0000505	Visual impairment	1	RPGR CL E G H	6103	304020	Cone-rod dystrophy, X-linked 1	304020	C1844776	OMIM	1	245	10295	312610
HP:0000505	HP:0000505	Visual impairment	1	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	1	51	29168	610937
HP:0000505	HP:0000505	Visual impairment	1	SAG CL E G H	6295	613758	Retinitis pigmentosa 47	613758	C3151061	OMIM	1	16	10521	181031
HP:0000505	HP:0000505	Visual impairment	1	SALL4 CL E G H	57167	959				ORPHA	1	57	15924	607343
HP:0000505	HP:0000505	Visual impairment	1	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	91	10680	600857
HP:0000505	HP:0000505	Visual impairment	1	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	6	33867	612848
HP:0000505	HP:0000505	Visual impairment	1	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	174	10683	602690
HP:0000505	HP:0000505	Visual impairment	1	SETBP1 CL E G H	26040	798				ORPHA	1	47	15573	611060
HP:0000505	HP:0000505	Visual impairment	1	SFXN4 CL E G H	119559	615578	Combined oxidative phosphorylation deficiency 18	615578	C3810001	OMIM	1	4	16088	615564
HP:0000505	HP:0000505	Visual impairment	1	SLC45A2 CL E G H	51151	79435				ORPHA	1	161	16472	606202
HP:0000505	HP:0000505	Visual impairment	1	SLC45A2 CL E G H	51151	606574	Oculocutaneous albinism type 4	606574	C1847836	OMIM	1	161	16472	606202
HP:0000505	HP:0000505	Visual impairment	1	SLC4A11 CL E G H	83959	1490	Congenital ichtyosiform erythroderma			ORPHA	1	95	16438	610206
HP:0000505	HP:0000505	Visual impairment	1	SLC4A11 CL E G H	83959	613268	Corneal dystrophy, Fuchs endothelial, 4	613268	C2750450	OMIM	1	95	16438	610206
HP:0000505	HP:0000505	Visual impairment	1	SMARCB1 CL E G H	6598	614608	Mental retardation, autosomal dominant 15	614608	C3553248	OMIM	1	119	11103	601607
HP:0000505	HP:0000505	Visual impairment	1	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	2	25763	613176
HP:0000505	HP:0000505	Visual impairment	1	SNRNP200 CL E G H	23020	610359	Retinitis pigmentosa 33	610359	C1835895	OMIM	1	35	30859	601664
HP:0000505	HP:0000505	Visual impairment	1	SNX10 CL E G H	29887	667				ORPHA	1	13	14974	614780
HP:0000505	HP:0000505	Visual impairment	1	SOX2 CL E G H	6657	3157	Lachiewicz Sibley syndrome			ORPHA	1	105	11195	184429
HP:0000505	HP:0000505	Visual impairment	1	SOX3 CL E G H	6658	3157	Lachiewicz Sibley syndrome			ORPHA	1	28	11199	313430
HP:0000505	HP:0000505	Visual impairment	1	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	293	11226	610844
HP:0000505	HP:0000505	Visual impairment	1	SUCLA2 CL E G H	8803	1933				ORPHA	1	29	11448	603921
HP:0000505	HP:0000505	Visual impairment	1	SUMF1 CL E G H	285362	585				ORPHA	1	55	20376	607939
HP:0000505	HP:0000505	Visual impairment	1	SYNJ1 CL E G H	8867	617389	Epileptic encephalopathy, early infantile, 53	617389	C4479313	OMIM	1	27	11503	604297
HP:0000505	HP:0000505	Visual impairment	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1		11586	605842
HP:0000505	HP:0000505	Visual impairment	1	TCIRG1 CL E G H	10312	667				ORPHA	1	137	11647	604592
HP:0000505	HP:0000505	Visual impairment	1	TCOF1 CL E G H	6949	861				ORPHA	1	333	11654	606847
HP:0000505	HP:0000505	Visual impairment	1	TGFBI CL E G H	7045	608471	Lattice corneal dystrophy type 3A	608471	C1837974	OMIM	1	70	11771	601692
HP:0000505	HP:0000505	Visual impairment	1	TIMM8A CL E G H	1678	304700	Mohr-Tranebjaerg syndrome	304700	C0796074	OMIM	1	22	11817	300356
HP:0000505	HP:0000505	Visual impairment	1	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	8	25018	613277
HP:0000505	HP:0000505	Visual impairment	1	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	1	174	28396	609884
HP:0000505	HP:0000505	Visual impairment	1	TNFSF11 CL E G H	8600	667				ORPHA	1	16	11926	602642
HP:0000505	HP:0000505	Visual impairment	1	TP53RK CL E G H	112858	617730	GALLOWAY-MOWAT SYNDROME 4	617730	C4540270	OMIM	1	5	16197	608679
HP:0000505	HP:0000505	Visual impairment	1	TRAPPC11 CL E G H	60684	869				ORPHA	1	17	25751	614138
HP:0000505	HP:0000505	Visual impairment	1	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	71	12269	606609
HP:0000505	HP:0000505	Visual impairment	1	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	5	28422	608753
HP:0000505	HP:0000505	Visual impairment	1	TSEN34 CL E G H	79042	612390	Pontocerebellar hypoplasia type 2C	612390	C2676465	OMIM	1	2	15506	608754
HP:0000505	HP:0000505	Visual impairment	1	TSEN54 CL E G H	283989	277470	Pontocerebellar hypoplasia type 2A	277470	C1848526	OMIM	1	21	27561	608755
HP:0000505	HP:0000505	Visual impairment	1	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	7	12367	604723
HP:0000505	HP:0000505	Visual impairment	1	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	151	12405	176300
HP:0000505	HP:0000505	Visual impairment	1	TUBB4A CL E G H	10382	612438	Leukodystrophy, hypomyelinating, 6	612438	C2676244	OMIM	1	42	20774	602662
HP:0000505	HP:0000505	Visual impairment	1	TUBGCP4 CL E G H	27229	2518				ORPHA	1	6	16691	609610
HP:0000505	HP:0000505	Visual impairment	1	TUBGCP6 CL E G H	85378	2518				ORPHA	1	7	18127	610053
HP:0000505	HP:0000505	Visual impairment	1	TUBGCP6 CL E G H	85378	251270	Microcephaly with chorioretinopathy, autosomal recessive	251270	C3278481	OMIM	1	7	18127	610053
HP:0000505	HP:0000505	Visual impairment	1	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	1	9	20670	607556
HP:0000505	HP:0000505	Visual impairment	1	TYR CL E G H	7299	79431				ORPHA	1	445	12442	606933
HP:0000505	HP:0000505	Visual impairment	1	TYR CL E G H	7299	79434				ORPHA	1	445	12442	606933
HP:0000505	HP:0000505	Visual impairment	1	TYR CL E G H	7299	103470	Albinism, ocular, with sensorineural deafness	103470	C1863198	OMIM	1	445	12442	606933
HP:0000505	HP:0000505	Visual impairment	1	TYR CL E G H	7299	606952	Oculocutaneous albinism type 1B	606952	C1847024	OMIM	1	445	12442	606933
HP:0000505	HP:0000505	Visual impairment	1	VPS13B CL E G H	157680	216550	Cohen syndrome	216550	C0265223	OMIM	1	213	2183	607817
HP:0000505	HP:0000505	Visual impairment	1	WT1 CL E G H	7490	893				ORPHA	1	184	12796	607102
HP:0000505	HP:0000505	Visual impairment	1	ZFYVE26 CL E G H	23503	270700	Spastic paraplegia 15	270700	C1849128	OMIM	1	45	20761	612012
HP:0000505	HP:0000505	Visual impairment	2	AAAS CL E G H	8086	869				ORPHA	1	79	13666	605378
HP:0000505	HP:0000505	Visual impairment	2	ABCA1 CL E G H	19	205400	Tangier disease	205400	C0039292	OMIM	1	240	29	600046
HP:0000505	HP:0000505	Visual impairment	2	ABCC6 CL E G H	368	177850	Pseudoxanthoma elasticum, forme fruste	177850	C1867450	OMIM	1	380	57	603234
HP:0000505	HP:0000505	Visual impairment	2	ADAM9 CL E G H	8754	612775	Cone-rod dystrophy 9	612775	C1423873	OMIM	1	11	216	602713
HP:0000505	HP:0000505	Visual impairment	2	ADNP CL E G H	23394	615873	Helsmoortel-van der aa syndrome	615873	C4014538	OMIM	1	68	15766	611386
HP:0000505	HP:0000505	Visual impairment	2	AHI1 CL E G H	54806	608629	Joubert syndrome 3	608629	C1837713	OMIM	1	96	21575	608894
HP:0000505	HP:0000505	Visual impairment	2	AIMP1 CL E G H	9255	260600	Leukodystrophy, hypomyelinating 3	260600	C1850053	OMIM	1	5	10648	603605
HP:0000505	HP:0000505	Visual impairment	2	AIRE CL E G H	326	3453	Meier Rotschild syndrome			ORPHA	1	141	360	607358
HP:0000505	HP:0000505	Visual impairment	2	ALG2 CL E G H	85365	607906	Congenital disorder of glycosylation type 1I	607906	C1842836	OMIM	1	5	23159	607905
HP:0000505	HP:0000505	Visual impairment	2	AMACR CL E G H	23600	614307	Alpha-methylacyl-CoA racemase deficiency	614307	C3280428	OMIM	1	14	451	604489
HP:0000505	HP:0000505	Visual impairment	2	ANTXR1 CL E G H	84168	2067				ORPHA	1	14	21014	606410
HP:0000505	HP:0000505	Visual impairment	2	AP3B1 CL E G H	8546	608233	Hermansky Pudlak syndrome 2	608233	C1842362	OMIM	1	35	566	603401
HP:0000505	HP:0000505	Visual impairment	2	AP3D1 CL E G H	8943	284804				ORPHA	1	4	568	607246
HP:0000505	HP:0000505	Visual impairment	2	ARID1A CL E G H	8289	614607	Mental retardation, autosomal dominant 14	614607	C3553247	OMIM	1	36	11110	603024
HP:0000505	HP:0000505	Visual impairment	2	ARID1B CL E G H	57492	135900	Coffin-Siris syndrome 1	135900	C3281201	OMIM	1	188	18040	614556
HP:0000505	HP:0000505	Visual impairment	2	ARNT2 CL E G H	9915	3157	Lachiewicz Sibley syndrome			ORPHA	1	6	16876	606036
HP:0000505	HP:0000505	Visual impairment	2	ARX CL E G H	170302	300004	Proud Levine Carpenter syndrome	300004	C0796124	OMIM	1	98	18060	300382
HP:0000505	HP:0000505	Visual impairment	2	B3GALNT2 CL E G H	148789	588				ORPHA	1	16	28596	610194
HP:0000505	HP:0000505	Visual impairment	2	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	5	961	605681
HP:0000505	HP:0000505	Visual impairment	2	BDNF CL E G H	627	893				ORPHA	1	35	1033	113505
HP:0000505	HP:0000505	Visual impairment	2	BEST1 CL E G H	7439	153700	Vitelliform macular dystrophy type 2	153700	C0339510	OMIM	1	319	12703	607854
HP:0000505	HP:0000505	Visual impairment	2	BLOC1S3 CL E G H	388552	614077	Hermansky-Pudlak syndrome 8	614077	C3888026	OMIM	1	4	20914	609762
HP:0000505	HP:0000505	Visual impairment	2	C12orf65 CL E G H	91574	613559	Combined oxidative phosphorylation deficiency 7	613559	C3150801	OMIM	1	11	26784	613541
HP:0000505	HP:0000505	Visual impairment	2	CA2 CL E G H	760	259730	Osteopetrosis with renal tubular acidosis	259730	C0345407	OMIM	1	31	1373	611492
HP:0000505	HP:0000505	Visual impairment	2	CABP4 CL E G H	57010	610427	Congenital stationary night blindness, type 2B	610427	C1864877	OMIM	1	13	1386	608965
HP:0000505	HP:0000505	Visual impairment	2	CACNA1F CL E G H	778	300071	Congenital stationary night blindness, type 2A	300071	C1848172	OMIM	1	185	1393	300110
HP:0000505	HP:0000505	Visual impairment	2	CACNA2D4 CL E G H	93589	610478	Retinal cone dystrophy 4	610478	C1864849	OMIM	1	9	20202	608171
HP:0000505	HP:0000505	Visual impairment	2	CAMK2B CL E G H	816	617799	MENTAL RETARDATION, AUTOSOMAL DOMINANT 54	617799	C4540484	OMIM	1	11	1461	607707
HP:0000505	HP:0000505	Visual impairment	2	CARS2 CL E G H	79587	616672	Combined oxidative phosphorylation deficiency 27	616672	C4225251	OMIM	1	4	25695	612800
HP:0000505	HP:0000505	Visual impairment	2	CASK CL E G H	8573	163937				ORPHA	1	119	1497	300172
HP:0000505	HP:0000505	Visual impairment	2	CC2D2A CL E G H	57545	1454	Common atrioventricular canal		C0221215	ORPHA	1	96	29253	612013
HP:0000505	HP:0000505	Visual impairment	2	CEP290 CL E G H	80184	611755	Leber congenital amaurosis 10	611755	C1857821	OMIM	1	310	29021	610142
HP:0000505	HP:0000505	Visual impairment	2	CEP290 CL E G H	80184	610189	Senior-Loken syndrome 6	610189	C1857779	OMIM	1	310	29021	610142
HP:0000505	HP:0000505	Visual impairment	2	CKAP2L CL E G H	150468	272440	Filippi syndrome	272440	C0795940	OMIM	1	7	26877	616174
HP:0000505	HP:0000505	Visual impairment	2	CLCN7 CL E G H	1186	667				ORPHA	1	100	2025	602727
HP:0000505	HP:0000505	Visual impairment	2	CLCN7 CL E G H	1186	611490	Osteopetrosis autosomal recessive 4	611490	C1969106	OMIM	1	100	2025	602727
HP:0000505	HP:0000505	Visual impairment	2	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	2586	603432
HP:0000505	HP:0000505	Visual impairment	2	CLRN1 CL E G H	7401	614180	Retinitis pigmentosa 61	614180	C3280041	OMIM	1	39	12605	606397
HP:0000505	HP:0000505	Visual impairment	2	CNGB3 CL E G H	54714	1871	Dionisi Vici Sabetta Gambarara syndrome			ORPHA	1	126	2153	605080
HP:0000505	HP:0000505	Visual impairment	2	CNNM4 CL E G H	26504	1873	Diphallus rachischisis imperforate anus			ORPHA	1	24	105	607805
HP:0000505	HP:0000505	Visual impairment	2	CNTNAP1 CL E G H	8506	618186	Congenital hypomyelinating neuropathy 3	618186		OMIM	1	21	8011	602346
HP:0000505	HP:0000505	Visual impairment	2	COL17A1 CL E G H	1308	122400	Epithelial recurrent erosion dystrophy	122400	C1852551	OMIM	1	114	2194	113811
HP:0000505	HP:0000505	Visual impairment	2	COQ7 CL E G H	10229	616733	Coenzyme Q10 deficiency, primary, 8	616733	C4225226	OMIM	1	5	2244	601683
HP:0000505	HP:0000505	Visual impairment	2	CRB1 CL E G H	23418	613835	Leber congenital amaurosis 8	613835	C3151202	OMIM	1	347	2343	604210
HP:0000505	HP:0000505	Visual impairment	2	CRX CL E G H	1406	613829	Leber congenital amaurosis 7	613829	C3151192	OMIM	1	107	2383	602225
HP:0000505	HP:0000505	Visual impairment	2	EARS2 CL E G H	124454	614924	Combined oxidative phosphorylation deficiency 12	614924	C3554079	OMIM	1	30	29419	612799
HP:0000505	HP:0000505	Visual impairment	2	EFEMP1 CL E G H	2202	126600	Doyne honeycomb retinal dystrophy	126600	C1832174	OMIM	1	9	3218	601548
HP:0000505	HP:0000505	Visual impairment	2	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	127	3327	130160
HP:0000505	HP:0000505	Visual impairment	2	ERCC1 CL E G H	2067	1466				ORPHA	1	8	3433	126380
HP:0000505	HP:0000505	Visual impairment	2	ERCC2 CL E G H	2068	1466				ORPHA	1	108	3434	126340
HP:0000505	HP:0000505	Visual impairment	2	ERCC4 CL E G H	2072	610965	XFE progeroid syndrome	610965	C1970416	OMIM	1	72	3436	133520
HP:0000505	HP:0000505	Visual impairment	2	ERCC5 CL E G H	2073	1466				ORPHA	1	59	3437	133530
HP:0000505	HP:0000505	Visual impairment	2	ERCC6 CL E G H	2074	1466				ORPHA	1	140	3438	609413
HP:0000505	HP:0000505	Visual impairment	2	EXOSC8 CL E G H	11340	616081	Pontocerebellar hypoplasia, type 1c	616081	C4015160	OMIM	1	3	17035	606019
HP:0000505	HP:0000505	Visual impairment	2	FAS CL E G H	355	3437				ORPHA	1	142	11920	134637
HP:0000505	HP:0000505	Visual impairment	2	FDXR CL E G H	2232	617717	AUDITORY NEUROPATHY AND OPTIC ATROPHY	617717	C4521678	OMIM	1	19	3642	103270
HP:0000505	HP:0000505	Visual impairment	2	FGFR1 CL E G H	2260	3157	Lachiewicz Sibley syndrome			ORPHA	1	265	3688	136350
HP:0000505	HP:0000505	Visual impairment	2	FGFR2 CL E G H	2263	123500	Crouzon syndrome	123500	C0010273	OMIM	1	159	3689	176943
HP:0000505	HP:0000505	Visual impairment	2	FH CL E G H	2271	606812	Fumarase deficiency	606812	C0342770	OMIM	1	216	3700	136850
HP:0000505	HP:0000505	Visual impairment	2	FKRP CL E G H	79147	588				ORPHA	1	141	17997	606596
HP:0000505	HP:0000505	Visual impairment	2	FKTN CL E G H	2218	588				ORPHA	1	59	3622	607440
HP:0000505	HP:0000505	Visual impairment	2	FOXE3 CL E G H	2301	88632				ORPHA	1	31	3808	601094
HP:0000505	HP:0000505	Visual impairment	2	FSCN2 CL E G H	25794	607921	Retinitis pigmentosa 30	607921	C1842816	OMIM	1	15	3960	607643
HP:0000505	HP:0000505	Visual impairment	2	GDF3 CL E G H	9573	613703	Microphthalmia, isolated, with coloboma 6	613703	C3150968	OMIM	1	6	4218	606522
HP:0000505	HP:0000505	Visual impairment	2	GDF6 CL E G H	392255	613703	Microphthalmia, isolated, with coloboma 6	613703	C3150968	OMIM	1	21	4221	601147
HP:0000505	HP:0000505	Visual impairment	2	GJA1 CL E G H	2697	2710	Hm syndrome			ORPHA	1	109	4274	121014
HP:0000505	HP:0000505	Visual impairment	2	GLRX5 CL E G H	51218	401866				ORPHA	1	6	20134	609588
HP:0000505	HP:0000505	Visual impairment	2	GLRX5 CL E G H	51218	616859	Spasticity, childhood-onset, with hyperglycinemia	616859	C4225178	OMIM	1	6	20134	609588
HP:0000505	HP:0000505	Visual impairment	2	GMPPA CL E G H	29926	869				ORPHA	1	12	22923	615495
HP:0000505	HP:0000505	Visual impairment	2	GMPPB CL E G H	29925	588				ORPHA	1	49	22932	615320
HP:0000505	HP:0000505	Visual impairment	2	GNAT2 CL E G H	2780	613856	Achromatopsia 4	613856	C1841721	OMIM	1	16	4394	139340
HP:0000505	HP:0000505	Visual impairment	2	GNAT2 CL E G H	2780	1871	Dionisi Vici Sabetta Gambarara syndrome			ORPHA	1	16	4394	139340
HP:0000505	HP:0000505	Visual impairment	2	GPR143 CL E G H	4935	300500	Ocular albinism, type I	300500	C0342684	OMIM	1	181	20145	300808
HP:0000505	HP:0000505	Visual impairment	2	GRN CL E G H	2896	614706	Ceroid lipofuscinosis, neuronal, 11	614706	C3539123	OMIM	1	231	4601	138945
HP:0000505	HP:0000505	Visual impairment	2	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	1	4659	601679
HP:0000505	HP:0000505	Visual impairment	2	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	6	4661	604318
HP:0000505	HP:0000505	Visual impairment	2	GTPBP2 CL E G H	54676	617988	JABERI-ELAHI SYNDROME	617988	CN244943	OMIM	1	5	4670	607434
HP:0000505	HP:0000505	Visual impairment	2	GUCA1A CL E G H	2978	1871	Dionisi Vici Sabetta Gambarara syndrome			ORPHA	1	23	4678	600364
HP:0000505	HP:0000505	Visual impairment	2	GUCA1B CL E G H	2979	613827	Retinitis pigmentosa 48	613827	C3151190	OMIM	1	7	4679	602275
HP:0000505	HP:0000505	Visual impairment	2	HARS CL E G H	3035	614504	Usher syndrome, type 3B	614504	C3281066	OMIM	1	13	4816	142810
HP:0000505	HP:0000505	Visual impairment	2	HESX1 CL E G H	8820	3157	Lachiewicz Sibley syndrome			ORPHA	1	27	4877	601802
HP:0000505	HP:0000505	Visual impairment	2	HPS3 CL E G H	84343	614072	Hermansky-Pudlak syndrome 3	614072	C3888001	OMIM	1	17	15597	606118
HP:0000505	HP:0000505	Visual impairment	2	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	101	5213	601860
HP:0000505	HP:0000505	Visual impairment	2	HSPG2 CL E G H	3339	800				ORPHA	1	67	5273	142461
HP:0000505	HP:0000505	Visual impairment	2	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	23	27302	615316
HP:0000505	HP:0000505	Visual impairment	2	IGBP1 CL E G H	3476	300472	Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia	300472	C1845446	OMIM	1	2	5461	300139
HP:0000505	HP:0000505	Visual impairment	2	IKBKG CL E G H	8517	464	Achromatopsia incomplete X-linked		CN036572	ORPHA	1	151	5961	300248
HP:0000505	HP:0000505	Visual impairment	2	IMPDH1 CL E G H	3614	613837	Leber congenital amaurosis 11	613837	C1840284	OMIM	1	24	6052	146690
HP:0000505	HP:0000505	Visual impairment	2	INPP5E CL E G H	56623	1454	Common atrioventricular canal		C0221215	ORPHA	1	54	21474	613037
HP:0000505	HP:0000505	Visual impairment	2	ISCA2 CL E G H	122961	616370	Multiple mitochondrial dysfunctions syndrome 4	616370	C4225348	OMIM	1	3	19857	615317
HP:0000505	HP:0000505	Visual impairment	2	ITPR1 CL E G H	3708	206700	Gillespie syndrome	206700	C0431401	OMIM	1	95	6180	147265
HP:0000505	HP:0000505	Visual impairment	2	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	103	6501	309060
HP:0000505	HP:0000505	Visual impairment	2	LARGE1 CL E G H	9215	588				ORPHA	1	28	6511	603590
HP:0000505	HP:0000505	Visual impairment	2	LCA5 CL E G H	167691	604537	Leber congenital amaurosis 5	604537	C1858301	OMIM	1	49	31923	611408
HP:0000505	HP:0000505	Visual impairment	2	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	7	6613	601329
HP:0000505	HP:0000505	Visual impairment	2	LRPAP1 CL E G H	4043	615431	Myopia 23, autosomal recessive	615431	C3809482	OMIM	1	5	6701	104225
HP:0000505	HP:0000505	Visual impairment	2	LYST CL E G H	1130	214500	Chédiak-Higashi syndrome	214500	C0007965	OMIM	1	102	1968	606897
HP:0000505	HP:0000505	Visual impairment	2	MBD5 CL E G H	55777	156200	Mental retardation, autosomal dominant 1	156200	C1969562	OMIM	1	91	20444	611472
HP:0000505	HP:0000505	Visual impairment	2	MC1R CL E G H	4157	79432				ORPHA	1	109	6929	155555
HP:0000505	HP:0000505	Visual impairment	2	MCOLN1 CL E G H	57192	252650	Mucolipidosis type IV	252650	C0238286	OMIM	1	36	13356	605248
HP:0000505	HP:0000505	Visual impairment	2	MECR CL E G H	51102	617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	617282	C4310634	OMIM	1	6	19691	608205
HP:0000505	HP:0000505	Visual impairment	2	MFF CL E G H	56947	617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	617086	C4310726	OMIM	1	4	24858	614785
HP:0000505	HP:0000505	Visual impairment	2	MICOS13 CL E G H	125988	67047				ORPHA	1		33702	616658
HP:0000505	HP:0000505	Visual impairment	2	MITF CL E G H	4286	103470	Albinism, ocular, with sensorineural deafness	103470	C1863198	OMIM	1	61	7105	156845
HP:0000505	HP:0000505	Visual impairment	2	MMACHC CL E G H	25974	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	95	24525	609831
HP:0000505	HP:0000505	Visual impairment	2	NOTCH3 CL E G H	4854	136				ORPHA	1	379	7883	600276
HP:0000505	HP:0000505	Visual impairment	2	NRL CL E G H	4901	613750	Retinitis pigmentosa 27	613750	C1834329	OMIM	1	25	8002	162080
HP:0000505	HP:0000505	Visual impairment	2	NTRK2 CL E G H	4915	617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58	617830	CN757795	OMIM	1	13	8032	600456
HP:0000505	HP:0000505	Visual impairment	2	NUS1 CL E G H	116150	617082	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iaa	617082	C4310727	OMIM	1	22	21042	610463
HP:0000505	HP:0000505	Visual impairment	2	OCA2 CL E G H	4948	79432				ORPHA	1	316	8101	611409
HP:0000505	HP:0000505	Visual impairment	2	OCRL CL E G H	4952	309000	Lowe syndrome	309000	C0028860	OMIM	1	264	8108	300535
HP:0000505	HP:0000505	Visual impairment	2	OPA1 CL E G H	4976	1215	Cerebro reno digital syndrome			ORPHA	1	394	8140	605290
HP:0000505	HP:0000505	Visual impairment	2	OPA3 CL E G H	80207	67047				ORPHA	1	15	8142	606580
HP:0000505	HP:0000505	Visual impairment	2	OPA3 CL E G H	80207	258501	3-Methylglutaconic aciduria type 3	258501	C0574084	OMIM	1	15	8142	606580
HP:0000505	HP:0000505	Visual impairment	2	OPN1LW CL E G H	5956	303700	Cone monochromatism	303700	C0339537	OMIM	1	63	9936	300822
HP:0000505	HP:0000505	Visual impairment	2	OPN1MW CL E G H	2652	303700	Cone monochromatism	303700	C0339537	OMIM	1	21	4206	300821
HP:0000505	HP:0000505	Visual impairment	2	OSGEP CL E G H	55644	617729	GALLOWAY-MOWAT SYNDROME 3	617729	C4540266	OMIM	1	17	18028	610107
HP:0000505	HP:0000505	Visual impairment	2	OSTM1 CL E G H	28962	259720	Osteopetrosis, autosomal recessive 5	259720	C1968603	OMIM	1	9	21652	607649
HP:0000505	HP:0000505	Visual impairment	2	OTX2 CL E G H	5015	3157	Lachiewicz Sibley syndrome			ORPHA	1	78	8522	600037
HP:0000505	HP:0000505	Visual impairment	2	PAX2 CL E G H	5076	1475	Congenital bronchobiliary fistula			ORPHA	1	98	8616	167409
HP:0000505	HP:0000505	Visual impairment	2	PAX6 CL E G H	5080	893				ORPHA	1	571	8620	607108
HP:0000505	HP:0000505	Visual impairment	2	PAX6 CL E G H	5080	136520	Foveal hypoplasia and presenile cataract syndrome	136520	C3805604	OMIM	1	571	8620	607108
HP:0000505	HP:0000505	Visual impairment	2	PAX6 CL E G H	5080	165550	Optic nerve hypoplasia, bilateral	165550	C1833797	OMIM	1	571	8620	607108
HP:0000505	HP:0000505	Visual impairment	2	PCARE CL E G H	388939	613428	Retinitis pigmentosa 54	613428	C3150691	OMIM	1	53	34383	613425
HP:0000505	HP:0000505	Visual impairment	2	PDE6C CL E G H	5146	613093	Cone dystrophy 4	613093	C2751308	OMIM	1	58	8787	600827
HP:0000505	HP:0000505	Visual impairment	2	PDE6C CL E G H	5146	1871	Dionisi Vici Sabetta Gambarara syndrome			ORPHA	1	58	8787	600827
HP:0000505	HP:0000505	Visual impairment	2	PEPD CL E G H	5184	742	Aortic dissection lentiginosis			ORPHA	1	31	8840	613230
HP:0000505	HP:0000505	Visual impairment	2	PEX1 CL E G H	5189	912				ORPHA	1	140	8850	602136
HP:0000505	HP:0000505	Visual impairment	2	PEX1 CL E G H	5189	44	MYBPC1-related condition			ORPHA	1	140	8850	602136
HP:0000505	HP:0000505	Visual impairment	2	PEX10 CL E G H	5192	912				ORPHA	1	32	8851	602859
HP:0000505	HP:0000505	Visual impairment	2	PEX10 CL E G H	5192	44	MYBPC1-related condition			ORPHA	1	32	8851	602859
HP:0000505	HP:0000505	Visual impairment	2	PEX10 CL E G H	5192	614871	Peroxisome biogenesis disorder 6B	614871	C3553948	OMIM	1	32	8851	602859
HP:0000505	HP:0000505	Visual impairment	2	PEX11B CL E G H	8799	912				ORPHA	1	8	8853	603867
HP:0000505	HP:0000505	Visual impairment	2	PEX11B CL E G H	8799	44	MYBPC1-related condition			ORPHA	1	8	8853	603867
HP:0000505	HP:0000505	Visual impairment	2	PEX12 CL E G H	5193	912				ORPHA	1	37	8854	601758
HP:0000505	HP:0000505	Visual impairment	2	PEX12 CL E G H	5193	44	MYBPC1-related condition			ORPHA	1	37	8854	601758
HP:0000505	HP:0000505	Visual impairment	2	PEX13 CL E G H	5194	912				ORPHA	1	10	8855	601789
HP:0000505	HP:0000505	Visual impairment	2	PEX13 CL E G H	5194	44	MYBPC1-related condition			ORPHA	1	10	8855	601789
HP:0000505	HP:0000505	Visual impairment	2	PEX14 CL E G H	5195	912				ORPHA	1	5	8856	601791
HP:0000505	HP:0000505	Visual impairment	2	PEX14 CL E G H	5195	44	MYBPC1-related condition			ORPHA	1	5	8856	601791
HP:0000505	HP:0000505	Visual impairment	2	PEX16 CL E G H	9409	912				ORPHA	1	15	8857	603360
HP:0000505	HP:0000505	Visual impairment	2	PEX16 CL E G H	9409	44	MYBPC1-related condition			ORPHA	1	15	8857	603360
HP:0000505	HP:0000505	Visual impairment	2	PEX16 CL E G H	9409	614877	Peroxisome biogenesis disorder 8B	614877	C3553960	OMIM	1	15	8857	603360
HP:0000505	HP:0000505	Visual impairment	2	PEX19 CL E G H	5824	912				ORPHA	1	4	9713	600279
HP:0000505	HP:0000505	Visual impairment	2	PEX19 CL E G H	5824	44	MYBPC1-related condition			ORPHA	1	4	9713	600279
HP:0000505	HP:0000505	Visual impairment	2	PEX2 CL E G H	5828	912				ORPHA	1	18	9717	170993
HP:0000505	HP:0000505	Visual impairment	2	PEX2 CL E G H	5828	44	MYBPC1-related condition			ORPHA	1	18	9717	170993
HP:0000505	HP:0000505	Visual impairment	2	PEX2 CL E G H	5828	614867	Peroxisome biogenesis disorder 5B	614867	C3542026	OMIM	1	18	9717	170993
HP:0000505	HP:0000505	Visual impairment	2	PEX26 CL E G H	55670	912				ORPHA	1	27	22965	608666
HP:0000505	HP:0000505	Visual impairment	2	PEX26 CL E G H	55670	44	MYBPC1-related condition			ORPHA	1	27	22965	608666
HP:0000505	HP:0000505	Visual impairment	2	PEX26 CL E G H	55670	614873	Peroxisome biogenesis disorder 7B	614873	C3553951	OMIM	1	27	22965	608666
HP:0000505	HP:0000505	Visual impairment	2	PEX3 CL E G H	8504	912				ORPHA	1	10	8858	603164
HP:0000505	HP:0000505	Visual impairment	2	PEX3 CL E G H	8504	44	MYBPC1-related condition			ORPHA	1	10	8858	603164
HP:0000505	HP:0000505	Visual impairment	2	PEX5 CL E G H	5830	912				ORPHA	1	14	9719	600414
HP:0000505	HP:0000505	Visual impairment	2	PEX5 CL E G H	5830	44	MYBPC1-related condition			ORPHA	1	14	9719	600414
HP:0000505	HP:0000505	Visual impairment	2	PEX6 CL E G H	5190	912				ORPHA	1	109	8859	601498
HP:0000505	HP:0000505	Visual impairment	2	PEX6 CL E G H	5190	44	MYBPC1-related condition			ORPHA	1	109	8859	601498
HP:0000505	HP:0000505	Visual impairment	2	PEX6 CL E G H	5190	614863	Peroxisome biogenesis disorder 4B	614863	C3553937	OMIM	1	109	8859	601498
HP:0000505	HP:0000505	Visual impairment	2	PHF6 CL E G H	84295	301900	Borjeson-Forssman-Lehmann syndrome	301900	C0265339	OMIM	1	29	18145	300414
HP:0000505	HP:0000505	Visual impairment	2	PHOX2A CL E G H	401	602078	Fibrosis of extraocular muscles, congenital, 2	602078	C1865915	OMIM	1	5	691	602753
HP:0000505	HP:0000505	Visual impairment	2	PIEZO2 CL E G H	63895	1154	Cataract mental retardation hypogonadism			ORPHA	1	32	26270	613629
HP:0000505	HP:0000505	Visual impairment	2	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	12	14938	610272
HP:0000505	HP:0000505	Visual impairment	2	PITX3 CL E G H	5309	88632				ORPHA	1	15	9006	602669
HP:0000505	HP:0000505	Visual impairment	2	PLA2G6 CL E G H	8398	35069				ORPHA	1	179	9039	603604
HP:0000505	HP:0000505	Visual impairment	2	PLK4 CL E G H	10733	2518				ORPHA	1	6	11397	605031
HP:0000505	HP:0000505	Visual impairment	2	PLK4 CL E G H	10733	616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	616171	C4015388	OMIM	1	6	11397	605031
HP:0000505	HP:0000505	Visual impairment	2	PLOD1 CL E G H	5351	1900				ORPHA	1	42	9081	153454
HP:0000505	HP:0000505	Visual impairment	2	POLA1 CL E G H	5422	301220	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	301220	C1845050	OMIM	1	2	9173	312040
HP:0000505	HP:0000505	Visual impairment	2	POLR1C CL E G H	9533	861				ORPHA	1	21	20194	610060
HP:0000505	HP:0000505	Visual impairment	2	POLR1D CL E G H	51082	861				ORPHA	1	26	20422	613715
HP:0000505	HP:0000505	Visual impairment	2	POMGNT1 CL E G H	55624	588				ORPHA	1	89	19139	606822
HP:0000505	HP:0000505	Visual impairment	2	POMT1 CL E G H	10585	588				ORPHA	1	96	9202	607423
HP:0000505	HP:0000505	Visual impairment	2	POMT2 CL E G H	29954	588				ORPHA	1	75	19743	607439
HP:0000505	HP:0000505	Visual impairment	2	PRDX1 CL E G H	5052	277400	Methylmalonic acidemia with homocystinuria	277400	C1848561	OMIM	1	3	9352	176763
HP:0000505	HP:0000505	Visual impairment	2	PRNP CL E G H	5621	123400	Jakob-Creutzfeldt disease	123400	C0022336	OMIM	1	109	9449	176640
HP:0000505	HP:0000505	Visual impairment	2	PROKR2 CL E G H	128674	3157	Lachiewicz Sibley syndrome			ORPHA	1	83	15836	607123
HP:0000505	HP:0000505	Visual impairment	2	PRPS1 CL E G H	5631	1187	Cerebellar agenesis			ORPHA	1	32	9462	311850
HP:0000505	HP:0000505	Visual impairment	2	PTPN22 CL E G H	26191	3437				ORPHA	1	14	9652	600716
HP:0000505	HP:0000505	Visual impairment	2	RAB11B CL E G H	9230	617807	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER	617807	C4540498	OMIM	1	2	9761	604198
HP:0000505	HP:0000505	Visual impairment	2	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	4	9970	600404
HP:0000505	HP:0000505	Visual impairment	2	RFT1 CL E G H	91869	244310				ORPHA	1	13	30220	611908
HP:0000505	HP:0000505	Visual impairment	2	RGS9 CL E G H	8787	75374				ORPHA	1	3	10004	604067
HP:0000505	HP:0000505	Visual impairment	2	RGS9BP CL E G H	388531	75374				ORPHA	1	7	30304	607814
HP:0000505	HP:0000505	Visual impairment	2	RIMS1 CL E G H	22999	603649	Cone-rod dystrophy 7	603649	C1863634	OMIM	1	12	17282	606629
HP:0000505	HP:0000505	Visual impairment	2	RMRP CL E G H	6023	175				ORPHA	1	123	10031	157660
HP:0000505	HP:0000505	Visual impairment	2	RPE65 CL E G H	6121	613794	Retinitis pigmentosa 20	613794	C3151086	OMIM	1	208	10294	180069
HP:0000505	HP:0000505	Visual impairment	2	RPGR CL E G H	6103	304020	Cone-rod dystrophy, X-linked 1	304020	C1844776	OMIM	1	245	10295	312610
HP:0000505	HP:0000505	Visual impairment	2	RPGRIP1L CL E G H	23322	1454	Common atrioventricular canal		C0221215	ORPHA	1	51	29168	610937
HP:0000505	HP:0000505	Visual impairment	2	SAG CL E G H	6295	613758	Retinitis pigmentosa 47	613758	C3151061	OMIM	1	16	10521	181031
HP:0000505	HP:0000505	Visual impairment	2	SALL4 CL E G H	57167	959				ORPHA	1	57	15924	607343
HP:0000505	HP:0000505	Visual impairment	2	SDHA CL E G H	6389	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	91	10680	600857
HP:0000505	HP:0000505	Visual impairment	2	SDHAF1 CL E G H	644096	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	6	33867	612848
HP:0000505	HP:0000505	Visual impairment	2	SDHD CL E G H	6392	252011	Mitochondrial complex II deficiency	252011	C1855008	OMIM	1	174	10683	602690
HP:0000505	HP:0000505	Visual impairment	2	SETBP1 CL E G H	26040	798				ORPHA	1	47	15573	611060
HP:0000505	HP:0000505	Visual impairment	2	SFXN4 CL E G H	119559	615578	Combined oxidative phosphorylation deficiency 18	615578	C3810001	OMIM	1	4	16088	615564
HP:0000505	HP:0000505	Visual impairment	2	SLC45A2 CL E G H	51151	79435				ORPHA	1	161	16472	606202
HP:0000505	HP:0000505	Visual impairment	2	SLC45A2 CL E G H	51151	606574	Oculocutaneous albinism type 4	606574	C1847836	OMIM	1	161	16472	606202
HP:0000505	HP:0000505	Visual impairment	2	SLC4A11 CL E G H	83959	1490	Congenital ichtyosiform erythroderma			ORPHA	1	95	16438	610206
HP:0000505	HP:0000505	Visual impairment	2	SLC4A11 CL E G H	83959	613268	Corneal dystrophy, Fuchs endothelial, 4	613268	C2750450	OMIM	1	95	16438	610206
HP:0000505	HP:0000505	Visual impairment	2	SMARCB1 CL E G H	6598	614608	Mental retardation, autosomal dominant 15	614608	C3553248	OMIM	1	119	11103	601607
HP:0000505	HP:0000505	Visual impairment	2	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	2	25763	613176
HP:0000505	HP:0000505	Visual impairment	2	SNRNP200 CL E G H	23020	610359	Retinitis pigmentosa 33	610359	C1835895	OMIM	1	35	30859	601664
HP:0000505	HP:0000505	Visual impairment	2	SNX10 CL E G H	29887	667				ORPHA	1	13	14974	614780
HP:0000505	HP:0000505	Visual impairment	2	SOX2 CL E G H	6657	3157	Lachiewicz Sibley syndrome			ORPHA	1	105	11195	184429
HP:0000505	HP:0000505	Visual impairment	2	SOX3 CL E G H	6658	3157	Lachiewicz Sibley syndrome			ORPHA	1	28	11199	313430
HP:0000505	HP:0000505	Visual impairment	2	SPG11 CL E G H	80208	604360	Spastic paraplegia 11, autosomal recessive	604360	C1858479	OMIM	1	293	11226	610844
HP:0000505	HP:0000505	Visual impairment	2	SUCLA2 CL E G H	8803	1933				ORPHA	1	29	11448	603921
HP:0000505	HP:0000505	Visual impairment	2	SUMF1 CL E G H	285362	585				ORPHA	1	55	20376	607939
HP:0000505	HP:0000505	Visual impairment	2	SYNJ1 CL E G H	8867	617389	Epileptic encephalopathy, early infantile, 53	617389	C4479313	OMIM	1	27	11503	604297
HP:0000505	HP:0000505	Visual impairment	2	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1		11586	605842
HP:0000505	HP:0000505	Visual impairment	2	TCIRG1 CL E G H	10312	667				ORPHA	1	137	11647	604592
HP:0000505	HP:0000505	Visual impairment	2	TCOF1 CL E G H	6949	861				ORPHA	1	333	11654	606847
HP:0000505	HP:0000505	Visual impairment	2	TGFBI CL E G H	7045	608471	Lattice corneal dystrophy type 3A	608471	C1837974	OMIM	1	70	11771	601692
HP:0000505	HP:0000505	Visual impairment	2	TIMM8A CL E G H	1678	304700	Mohr-Tranebjaerg syndrome	304700	C0796074	OMIM	1	22	11817	300356
HP:0000505	HP:0000505	Visual impairment	2	TMEM216 CL E G H	51259	608091	Joubert syndrome 2	608091	C1842577	OMIM	1	8	25018	613277
HP:0000505	HP:0000505	Visual impairment	2	TMEM67 CL E G H	91147	1454	Common atrioventricular canal		C0221215	ORPHA	1	174	28396	609884
HP:0000505	HP:0000505	Visual impairment	2	TNFSF11 CL E G H	8600	667				ORPHA	1	16	11926	602642
HP:0000505	HP:0000505	Visual impairment	2	TP53RK CL E G H	112858	617730	GALLOWAY-MOWAT SYNDROME 4	617730	C4540270	OMIM	1	5	16197	608679
HP:0000505	HP:0000505	Visual impairment	2	TRAPPC11 CL E G H	60684	869				ORPHA	1	17	25751	614138
HP:0000505	HP:0000505	Visual impairment	2	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	71	12269	606609
HP:0000505	HP:0000505	Visual impairment	2	TSEN2 CL E G H	80746	612389	Pontocerebellar hypoplasia type 2B	612389	C2676466	OMIM	1	5	28422	608753
HP:0000505	HP:0000505	Visual impairment	2	TSEN34 CL E G H	79042	612390	Pontocerebellar hypoplasia type 2C	612390	C2676465	OMIM	1	2	15506	608754
HP:0000505	HP:0000505	Visual impairment	2	TSEN54 CL E G H	283989	277470	Pontocerebellar hypoplasia type 2A	277470	C1848526	OMIM	1	21	27561	608755
HP:0000505	HP:0000505	Visual impairment	2	TSFM CL E G H	10102	610505	Combined oxidative phosphorylation deficiency 3	610505	C1864840	OMIM	1	7	12367	604723
HP:0000505	HP:0000505	Visual impairment	2	TTR CL E G H	7276	105210	Amyloidogenic transthyretin amyloidosis	105210	C2751492	OMIM	1	151	12405	176300
HP:0000505	HP:0000505	Visual impairment	2	TUBB4A CL E G H	10382	612438	Leukodystrophy, hypomyelinating, 6	612438	C2676244	OMIM	1	42	20774	602662
HP:0000505	HP:0000505	Visual impairment	2	TUBGCP4 CL E G H	27229	2518				ORPHA	1	6	16691	609610
HP:0000505	HP:0000505	Visual impairment	2	TUBGCP6 CL E G H	85378	2518				ORPHA	1	7	18127	610053
HP:0000505	HP:0000505	Visual impairment	2	TUBGCP6 CL E G H	85378	251270	Microcephaly with chorioretinopathy, autosomal recessive	251270	C3278481	OMIM	1	7	18127	610053
HP:0000505	HP:0000505	Visual impairment	2	TWIST2 CL E G H	117581	920	Bone dysplasia Azouz type			ORPHA	1	9	20670	607556
HP:0000505	HP:0000505	Visual impairment	2	TYR CL E G H	7299	79434