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:0000572	HP:0000572	Visual loss	0	ABCA4 CL E G H	24	604116	Cone-rod dystrophy 3	604116	C1858806	OMIM	1	1280	34	601691
HP:0000572	HP:0000572	Visual loss	0	ABCD1 CL E G H	215	300100	Adrenoleukodystrophy	300100	C0162309	OMIM	1	669	61	300371
HP:0000572	HP:0000572	Visual loss	0	ADGRV1 CL E G H	84059	231178				ORPHA	1	249	17416	602851
HP:0000572	HP:0000572	Visual loss	0	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	316	428	606844
HP:0000572	HP:0000572	Visual loss	0	ARSG CL E G H	22901	231183				ORPHA	1	3	24102	610008
HP:0000572	HP:0000572	Visual loss	0	ASPA CL E G H	443	314911				ORPHA	1	102	756	608034
HP:0000572	HP:0000572	Visual loss	0	ATXN7 CL E G H	6314	94147				ORPHA	1	6	10560	607640
HP:0000572	HP:0000572	Visual loss	0	BAP1 CL E G H	8314	39044				ORPHA	1	119	950	603089
HP:0000572	HP:0000572	Visual loss	0	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	55	20893	300485
HP:0000572	HP:0000572	Visual loss	0	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	248	1122	609019
HP:0000572	HP:0000572	Visual loss	0	C1QTNF5 CL E G H	114902	605670	Late-onset retinal degeneration	605670	C1854065	OMIM	1	8	14344	608752
HP:0000572	HP:0000572	Visual loss	0	CA2 CL E G H	760	259730	Osteopetrosis with renal tubular acidosis	259730	C0345407	OMIM	1	31	1373	611492
HP:0000572	HP:0000572	Visual loss	0	CDH23 CL E G H	64072	231169				ORPHA	1	361	13733	605516
HP:0000572	HP:0000572	Visual loss	0	CEP78 CL E G H	84131	231183				ORPHA	1	10	25740	617110
HP:0000572	HP:0000572	Visual loss	0	CIB2 CL E G H	10518	231169				ORPHA	1	18	24579	605564
HP:0000572	HP:0000572	Visual loss	0	CLCN7 CL E G H	1186	166600	Osteopetrosis autosomal dominant type 2	166600	C3179239	OMIM	1	100	2025	602727
HP:0000572	HP:0000572	Visual loss	0	CLRN1 CL E G H	7401	231183				ORPHA	1	39	12605	606397
HP:0000572	HP:0000572	Visual loss	0	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	36	2195	120328
HP:0000572	HP:0000572	Visual loss	0	COL4A1 CL E G H	1282	180000	Retinal arteries, tortuosity of	180000	C1867327	OMIM	1	114	2202	120130
HP:0000572	HP:0000572	Visual loss	0	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	33	25223	609825
HP:0000572	HP:0000572	Visual loss	0	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	19	2529	116840
HP:0000572	HP:0000572	Visual loss	0	CYSLTR2 CL E G H	57105	39044				ORPHA	1	2	18274	605666
HP:0000572	HP:0000572	Visual loss	0	ELMO2 CL E G H	63916	606893	Vascular malformation, primary intraosseous	606893	C1847197	OMIM	1	5	17233	606421
HP:0000572	HP:0000572	Visual loss	0	EPM2A CL E G H	7957	254780	Lafora disease	254780	C0751783	OMIM	1	82	3413	607566
HP:0000572	HP:0000572	Visual loss	0	FLVCR1 CL E G H	28982	88628				ORPHA	1	17	24682	609144
HP:0000572	HP:0000572	Visual loss	0	FOXC1 CL E G H	2296	250923				ORPHA	1	139	3800	601090
HP:0000572	HP:0000572	Visual loss	0	GATA2 CL E G H	2624	3226	Lethal chondrodysplasia Seller type			ORPHA	1	151	4171	137295
HP:0000572	HP:0000572	Visual loss	0	GNA11 CL E G H	2767	39044				ORPHA	1	11	4379	139313
HP:0000572	HP:0000572	Visual loss	0	GNAQ CL E G H	2776	39044				ORPHA	1	6	4390	600998
HP:0000572	HP:0000572	Visual loss	0	HADHA CL E G H	3030	5				ORPHA	1	71	4801	600890
HP:0000572	HP:0000572	Visual loss	0	HARS CL E G H	3035	231183				ORPHA	1	13	4816	142810
HP:0000572	HP:0000572	Visual loss	0	HLA-A CL E G H	3105	179	Macrothrombocytopenia progressive deafness			ORPHA	1	77	4931	142800
HP:0000572	HP:0000572	Visual loss	0	HSD17B10 CL E G H	3028	300438	2-methyl-3-hydroxybutyric aciduria	300438	C3266731	OMIM	1	17	4800	300256
HP:0000572	HP:0000572	Visual loss	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	101	5213	601860
HP:0000572	HP:0000572	Visual loss	0	IFT140 CL E G H	9742	266920	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	266920	C1849437	OMIM	1	72	29077	614620
HP:0000572	HP:0000572	Visual loss	0	KIF1A CL E G H	547	2836				ORPHA	1	43	888	601255
HP:0000572	HP:0000572	Visual loss	0	LAMC3 CL E G H	10319	614115	Cortical malformations, occipital	614115	C3279875	OMIM	1	18	6494	604349
HP:0000572	HP:0000572	Visual loss	0	LSS CL E G H	4047	616509	Cataract 44	616509	C4225300	OMIM	1	9	6708	600909
HP:0000572	HP:0000572	Visual loss	0	MFSD8 CL E G H	256471	610951	Ceroid lipofuscinosis neuronal 7	610951	C1838571	OMIM	1	49	28486	611124
HP:0000572	HP:0000572	Visual loss	0	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0000572	HP:0000572	Visual loss	0	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0000572	HP:0000572	Visual loss	0	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0000572	HP:0000572	Visual loss	0	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0000572	HP:0000572	Visual loss	0	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0000572	HP:0000572	Visual loss	0	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0000572	HP:0000572	Visual loss	0	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0000572	HP:0000572	Visual loss	0	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0000572	HP:0000572	Visual loss	0	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0000572	HP:0000572	Visual loss	0	MT-TS2 CL E G H	4575	231183				ORPHA	1		7498	590085
HP:0000572	HP:0000572	Visual loss	0	MYO7A CL E G H	4647	231178				ORPHA	1	527	7606	276903
HP:0000572	HP:0000572	Visual loss	0	MYO7A CL E G H	4647	231169				ORPHA	1	527	7606	276903
HP:0000572	HP:0000572	Visual loss	0	MYO7A CL E G H	4647	276900	Usher syndrome, type 1	276900	C1568247	OMIM	1	527	7606	276903
HP:0000572	HP:0000572	Visual loss	0	NHLRC1 CL E G H	378884	254780	Lafora disease	254780	C0751783	OMIM	1	71	21576	608072
HP:0000572	HP:0000572	Visual loss	0	NHS CL E G H	4810	627				ORPHA	1	52	7820	300457
HP:0000572	HP:0000572	Visual loss	0	NHS CL E G H	4810	302350	Nance-Horan syndrome	302350	C0796085	OMIM	1	52	7820	300457
HP:0000572	HP:0000572	Visual loss	0	PAX6 CL E G H	5080	250923				ORPHA	1	571	8620	607108
HP:0000572	HP:0000572	Visual loss	0	PCDH15 CL E G H	65217	231169				ORPHA	1	122	14674	605514
HP:0000572	HP:0000572	Visual loss	0	PCYT1A CL E G H	5130	85167				ORPHA	1	20	8754	123695
HP:0000572	HP:0000572	Visual loss	0	PDZD7 CL E G H	79955	231178				ORPHA	1	19	26257	612971
HP:0000572	HP:0000572	Visual loss	0	PEX13 CL E G H	5194	614885	Peroxisome biogenesis disorder 11B	614885	C3554001	OMIM	1	10	8855	601789
HP:0000572	HP:0000572	Visual loss	0	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	179	9039	603604
HP:0000572	HP:0000572	Visual loss	0	POLA1 CL E G H	5422	301220	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	301220	C1845050	OMIM	1	2	9173	312040
HP:0000572	HP:0000572	Visual loss	0	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	300	9179	174763
HP:0000572	HP:0000572	Visual loss	0	PRDM5 CL E G H	11107	90354				ORPHA	1	13	9349	614161
HP:0000572	HP:0000572	Visual loss	0	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	32	9462	311850
HP:0000572	HP:0000572	Visual loss	0	SF3B1 CL E G H	23451	39044				ORPHA	1	4	10768	605590
HP:0000572	HP:0000572	Visual loss	0	SLC19A2 CL E G H	10560	249270	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	249270	C0342287	OMIM	1	51	10938	603941
HP:0000572	HP:0000572	Visual loss	0	SMCHD1 CL E G H	23347	2250	Familial band heterotopia			ORPHA	1	125	29090	614982
HP:0000572	HP:0000572	Visual loss	0	SOST CL E G H	50964	269500	Sclerosteosis 1	269500	CN032489	OMIM	1	17	13771	605740
HP:0000572	HP:0000572	Visual loss	0	SOX2 CL E G H	6657	77298				ORPHA	1	105	11195	184429
HP:0000572	HP:0000572	Visual loss	0	SRD5A3 CL E G H	79644	612379	Congenital disorder of glycosylation type 1Q	612379	C3150191	OMIM	1	16	25812	611715
HP:0000572	HP:0000572	Visual loss	0	ST3GAL5 CL E G H	8869	609056	Amish infantile epilepsy syndrome	609056	C1836824	OMIM	1	7	10872	604402
HP:0000572	HP:0000572	Visual loss	0	TBC1D24 CL E G H	57465	615338	Early infantile epileptic encephalopathy 16	615338	C3809173	OMIM	1	56	29203	613577
HP:0000572	HP:0000572	Visual loss	0	TCOF1 CL E G H	6949	154500	Treacher Collins syndrome 1	154500	CN119605	OMIM	1	333	11654	606847
HP:0000572	HP:0000572	Visual loss	0	TFG CL E G H	10342	615658	Spastic paraplegia 57, autosomal recessive	615658	C3714897	OMIM	1	8	11758	602498
HP:0000572	HP:0000572	Visual loss	0	TRIM44 CL E G H	54765	250923				ORPHA	1	1	19016	612298
HP:0000572	HP:0000572	Visual loss	0	USH1C CL E G H	10083	231169				ORPHA	1	51	12597	605242
HP:0000572	HP:0000572	Visual loss	0	USH1C CL E G H	10083	276900	Usher syndrome, type 1	276900	C1568247	OMIM	1	51	12597	605242
HP:0000572	HP:0000572	Visual loss	0	USH1G CL E G H	124590	231169				ORPHA	1	32	16356	607696
HP:0000572	HP:0000572	Visual loss	0	USH2A CL E G H	7399	231178				ORPHA	1	1234	12601	608400
HP:0000572	HP:0000572	Visual loss	0	VCAN CL E G H	1462	143200	Wagner syndrome	143200	C0339540	OMIM	1	24	2464	118661
HP:0000572	HP:0000572	Visual loss	0	WHRN CL E G H	25861	231178				ORPHA	1	32	16361	607928
HP:0000572	HP:0000572	Visual loss	0	XYLT2 CL E G H	64132	85194				ORPHA	1	13	15517	608125
HP:0000572	HP:0000572	Visual loss	0	ZNF469 CL E G H	84627	90354				ORPHA	1	69	23216	612078
HP:0000572	HP:0000572	Visual loss	0	ZNF469 CL E G H	84627	229200	Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	229200	C0268344	OMIM	1	69	23216	612078
HP:0000572	HP:0000572	Visual loss	0	ZNHIT3 CL E G H	9326	2836				ORPHA	1	1	12309	604500
HP:0000572	HP:0000572	Visual loss	1	ABCA4 CL E G H	24	604116	Cone-rod dystrophy 3	604116	C1858806	OMIM	1	1280	34	601691
HP:0000572	HP:0000572	Visual loss	1	ABCD1 CL E G H	215	300100	Adrenoleukodystrophy	300100	C0162309	OMIM	1	669	61	300371
HP:0000572	HP:0000572	Visual loss	1	ADGRV1 CL E G H	84059	231178				ORPHA	1	249	17416	602851
HP:0000572	HP:0000572	Visual loss	1	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	316	428	606844
HP:0000572	HP:0000572	Visual loss	1	ARSG CL E G H	22901	231183				ORPHA	1	3	24102	610008
HP:0000572	HP:0000572	Visual loss	1	ASPA CL E G H	443	314911				ORPHA	1	102	756	608034
HP:0000572	HP:0000572	Visual loss	1	ATXN7 CL E G H	6314	94147				ORPHA	1	6	10560	607640
HP:0000572	HP:0000572	Visual loss	1	BAP1 CL E G H	8314	39044				ORPHA	1	119	950	603089
HP:0000572	HP:0000572	Visual loss	1	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	55	20893	300485
HP:0000572	HP:0000572	Visual loss	1	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	248	1122	609019
HP:0000572	HP:0000572	Visual loss	1	C1QTNF5 CL E G H	114902	605670	Late-onset retinal degeneration	605670	C1854065	OMIM	1	8	14344	608752
HP:0000572	HP:0000572	Visual loss	1	CA2 CL E G H	760	259730	Osteopetrosis with renal tubular acidosis	259730	C0345407	OMIM	1	31	1373	611492
HP:0000572	HP:0000572	Visual loss	1	CDH23 CL E G H	64072	231169				ORPHA	1	361	13733	605516
HP:0000572	HP:0000572	Visual loss	1	CEP78 CL E G H	84131	231183				ORPHA	1	10	25740	617110
HP:0000572	HP:0000572	Visual loss	1	CIB2 CL E G H	10518	231169				ORPHA	1	18	24579	605564
HP:0000572	HP:0000572	Visual loss	1	CLCN7 CL E G H	1186	166600	Osteopetrosis autosomal dominant type 2	166600	C3179239	OMIM	1	100	2025	602727
HP:0000572	HP:0000572	Visual loss	1	CLRN1 CL E G H	7401	231183				ORPHA	1	39	12605	606397
HP:0000572	HP:0000572	Visual loss	1	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	36	2195	120328
HP:0000572	HP:0000572	Visual loss	1	COL4A1 CL E G H	1282	180000	Retinal arteries, tortuosity of	180000	C1867327	OMIM	1	114	2202	120130
HP:0000572	HP:0000572	Visual loss	1	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	33	25223	609825
HP:0000572	HP:0000572	Visual loss	1	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	19	2529	116840
HP:0000572	HP:0000572	Visual loss	1	CYSLTR2 CL E G H	57105	39044				ORPHA	1	2	18274	605666
HP:0000572	HP:0000572	Visual loss	1	ELMO2 CL E G H	63916	606893	Vascular malformation, primary intraosseous	606893	C1847197	OMIM	1	5	17233	606421
HP:0000572	HP:0000572	Visual loss	1	EPM2A CL E G H	7957	254780	Lafora disease	254780	C0751783	OMIM	1	82	3413	607566
HP:0000572	HP:0000572	Visual loss	1	FLVCR1 CL E G H	28982	88628				ORPHA	1	17	24682	609144
HP:0000572	HP:0000572	Visual loss	1	FOXC1 CL E G H	2296	250923				ORPHA	1	139	3800	601090
HP:0000572	HP:0000572	Visual loss	1	GATA2 CL E G H	2624	3226	Lethal chondrodysplasia Seller type			ORPHA	1	151	4171	137295
HP:0000572	HP:0000572	Visual loss	1	GNA11 CL E G H	2767	39044				ORPHA	1	11	4379	139313
HP:0000572	HP:0000572	Visual loss	1	GNAQ CL E G H	2776	39044				ORPHA	1	6	4390	600998
HP:0000572	HP:0000572	Visual loss	1	HADHA CL E G H	3030	5				ORPHA	1	71	4801	600890
HP:0000572	HP:0000572	Visual loss	1	HARS CL E G H	3035	231183				ORPHA	1	13	4816	142810
HP:0000572	HP:0000572	Visual loss	1	HLA-A CL E G H	3105	179	Macrothrombocytopenia progressive deafness			ORPHA	1	77	4931	142800
HP:0000572	HP:0000572	Visual loss	1	HSD17B10 CL E G H	3028	300438	2-methyl-3-hydroxybutyric aciduria	300438	C3266731	OMIM	1	17	4800	300256
HP:0000572	HP:0000572	Visual loss	1	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	101	5213	601860
HP:0000572	HP:0000572	Visual loss	1	IFT140 CL E G H	9742	266920	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	266920	C1849437	OMIM	1	72	29077	614620
HP:0000572	HP:0000572	Visual loss	1	KIF1A CL E G H	547	2836				ORPHA	1	43	888	601255
HP:0000572	HP:0000572	Visual loss	1	LAMC3 CL E G H	10319	614115	Cortical malformations, occipital	614115	C3279875	OMIM	1	18	6494	604349
HP:0000572	HP:0000572	Visual loss	1	LSS CL E G H	4047	616509	Cataract 44	616509	C4225300	OMIM	1	9	6708	600909
HP:0000572	HP:0000572	Visual loss	1	MFSD8 CL E G H	256471	610951	Ceroid lipofuscinosis neuronal 7	610951	C1838571	OMIM	1	49	28486	611124
HP:0000572	HP:0000572	Visual loss	1	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0000572	HP:0000572	Visual loss	1	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0000572	HP:0000572	Visual loss	1	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0000572	HP:0000572	Visual loss	1	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0000572	HP:0000572	Visual loss	1	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0000572	HP:0000572	Visual loss	1	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0000572	HP:0000572	Visual loss	1	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0000572	HP:0000572	Visual loss	1	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0000572	HP:0000572	Visual loss	1	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0000572	HP:0000572	Visual loss	1	MT-TS2 CL E G H	4575	231183				ORPHA	1		7498	590085
HP:0000572	HP:0000572	Visual loss	1	MYO7A CL E G H	4647	231169				ORPHA	1	527	7606	276903
HP:0000572	HP:0000572	Visual loss	1	MYO7A CL E G H	4647	231178				ORPHA	1	527	7606	276903
HP:0000572	HP:0000572	Visual loss	1	MYO7A CL E G H	4647	276900	Usher syndrome, type 1	276900	C1568247	OMIM	1	527	7606	276903
HP:0000572	HP:0000572	Visual loss	1	NHLRC1 CL E G H	378884	254780	Lafora disease	254780	C0751783	OMIM	1	71	21576	608072
HP:0000572	HP:0000572	Visual loss	1	NHS CL E G H	4810	627				ORPHA	1	52	7820	300457
HP:0000572	HP:0000572	Visual loss	1	NHS CL E G H	4810	302350	Nance-Horan syndrome	302350	C0796085	OMIM	1	52	7820	300457
HP:0000572	HP:0000572	Visual loss	1	PAX6 CL E G H	5080	250923				ORPHA	1	571	8620	607108
HP:0000572	HP:0000572	Visual loss	1	PCDH15 CL E G H	65217	231169				ORPHA	1	122	14674	605514
HP:0000572	HP:0000572	Visual loss	1	PCYT1A CL E G H	5130	85167				ORPHA	1	20	8754	123695
HP:0000572	HP:0000572	Visual loss	1	PDZD7 CL E G H	79955	231178				ORPHA	1	19	26257	612971
HP:0000572	HP:0000572	Visual loss	1	PEX13 CL E G H	5194	614885	Peroxisome biogenesis disorder 11B	614885	C3554001	OMIM	1	10	8855	601789
HP:0000572	HP:0000572	Visual loss	1	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	179	9039	603604
HP:0000572	HP:0000572	Visual loss	1	POLA1 CL E G H	5422	301220	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	301220	C1845050	OMIM	1	2	9173	312040
HP:0000572	HP:0000572	Visual loss	1	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	300	9179	174763
HP:0000572	HP:0000572	Visual loss	1	PRDM5 CL E G H	11107	90354				ORPHA	1	13	9349	614161
HP:0000572	HP:0000572	Visual loss	1	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	32	9462	311850
HP:0000572	HP:0000572	Visual loss	1	SF3B1 CL E G H	23451	39044				ORPHA	1	4	10768	605590
HP:0000572	HP:0000572	Visual loss	1	SLC19A2 CL E G H	10560	249270	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	249270	C0342287	OMIM	1	51	10938	603941
HP:0000572	HP:0000572	Visual loss	1	SMCHD1 CL E G H	23347	2250	Familial band heterotopia			ORPHA	1	125	29090	614982
HP:0000572	HP:0000572	Visual loss	1	SOST CL E G H	50964	269500	Sclerosteosis 1	269500	CN032489	OMIM	1	17	13771	605740
HP:0000572	HP:0000572	Visual loss	1	SOX2 CL E G H	6657	77298				ORPHA	1	105	11195	184429
HP:0000572	HP:0000572	Visual loss	1	SRD5A3 CL E G H	79644	612379	Congenital disorder of glycosylation type 1Q	612379	C3150191	OMIM	1	16	25812	611715
HP:0000572	HP:0000572	Visual loss	1	ST3GAL5 CL E G H	8869	609056	Amish infantile epilepsy syndrome	609056	C1836824	OMIM	1	7	10872	604402
HP:0000572	HP:0000572	Visual loss	1	TBC1D24 CL E G H	57465	615338	Early infantile epileptic encephalopathy 16	615338	C3809173	OMIM	1	56	29203	613577
HP:0000572	HP:0000572	Visual loss	1	TCOF1 CL E G H	6949	154500	Treacher Collins syndrome 1	154500	CN119605	OMIM	1	333	11654	606847
HP:0000572	HP:0000572	Visual loss	1	TFG CL E G H	10342	615658	Spastic paraplegia 57, autosomal recessive	615658	C3714897	OMIM	1	8	11758	602498
HP:0000572	HP:0000572	Visual loss	1	TRIM44 CL E G H	54765	250923				ORPHA	1	1	19016	612298
HP:0000572	HP:0000572	Visual loss	1	USH1C CL E G H	10083	231169				ORPHA	1	51	12597	605242
HP:0000572	HP:0000572	Visual loss	1	USH1C CL E G H	10083	276900	Usher syndrome, type 1	276900	C1568247	OMIM	1	51	12597	605242
HP:0000572	HP:0000572	Visual loss	1	USH1G CL E G H	124590	231169				ORPHA	1	32	16356	607696
HP:0000572	HP:0000572	Visual loss	1	USH2A CL E G H	7399	231178				ORPHA	1	1234	12601	608400
HP:0000572	HP:0000572	Visual loss	1	VCAN CL E G H	1462	143200	Wagner syndrome	143200	C0339540	OMIM	1	24	2464	118661
HP:0000572	HP:0000572	Visual loss	1	WHRN CL E G H	25861	231178				ORPHA	1	32	16361	607928
HP:0000572	HP:0000572	Visual loss	1	XYLT2 CL E G H	64132	85194				ORPHA	1	13	15517	608125
HP:0000572	HP:0000572	Visual loss	1	ZNF469 CL E G H	84627	90354				ORPHA	1	69	23216	612078
HP:0000572	HP:0000572	Visual loss	1	ZNF469 CL E G H	84627	229200	Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	229200	C0268344	OMIM	1	69	23216	612078
HP:0000572	HP:0000572	Visual loss	1	ZNHIT3 CL E G H	9326	2836				ORPHA	1	1	12309	604500
HP:0000572	HP:0000572	Visual loss	2	ABCA4 CL E G H	24	604116	Cone-rod dystrophy 3	604116	C1858806	OMIM	1	1280	34	601691
HP:0000572	HP:0000572	Visual loss	2	ABCD1 CL E G H	215	300100	Adrenoleukodystrophy	300100	C0162309	OMIM	1	669	61	300371
HP:0000572	HP:0000572	Visual loss	2	ADGRV1 CL E G H	84059	231178				ORPHA	1	249	17416	602851
HP:0000572	HP:0000572	Visual loss	2	ALMS1 CL E G H	7840	203800	Alstrom syndrome	203800	C0268425	OMIM	1	316	428	606844
HP:0000572	HP:0000572	Visual loss	2	ARSG CL E G H	22901	231183				ORPHA	1	3	24102	610008
HP:0000572	HP:0000572	Visual loss	2	ASPA CL E G H	443	314911				ORPHA	1	102	756	608034
HP:0000572	HP:0000572	Visual loss	2	ATXN7 CL E G H	6314	94147				ORPHA	1	6	10560	607640
HP:0000572	HP:0000572	Visual loss	2	BAP1 CL E G H	8314	39044				ORPHA	1	119	950	603089
HP:0000572	HP:0000572	Visual loss	2	BCOR CL E G H	54880	300166	Oculofaciocardiodental syndrome	300166	C1846265	OMIM	1	55	20893	300485
HP:0000572	HP:0000572	Visual loss	2	BTD CL E G H	686	253260	Biotinidase deficiency	253260	C0220754	OMIM	1	248	1122	609019
HP:0000572	HP:0000572	Visual loss	2	C1QTNF5 CL E G H	114902	605670	Late-onset retinal degeneration	605670	C1854065	OMIM	1	8	14344	608752
HP:0000572	HP:0000572	Visual loss	2	CA2 CL E G H	760	259730	Osteopetrosis with renal tubular acidosis	259730	C0345407	OMIM	1	31	1373	611492
HP:0000572	HP:0000572	Visual loss	2	CDH23 CL E G H	64072	231169				ORPHA	1	361	13733	605516
HP:0000572	HP:0000572	Visual loss	2	CEP78 CL E G H	84131	231183				ORPHA	1	10	25740	617110
HP:0000572	HP:0000572	Visual loss	2	CIB2 CL E G H	10518	231169				ORPHA	1	18	24579	605564
HP:0000572	HP:0000572	Visual loss	2	CLCN7 CL E G H	1186	166600	Osteopetrosis autosomal dominant type 2	166600	C3179239	OMIM	1	100	2025	602727
HP:0000572	HP:0000572	Visual loss	2	CLRN1 CL E G H	7401	231183				ORPHA	1	39	12605	606397
HP:0000572	HP:0000572	Visual loss	2	COL18A1 CL E G H	80781	267750	Knobloch syndrome 1	267750	C1849409	OMIM	1	36	2195	120328
HP:0000572	HP:0000572	Visual loss	2	COL4A1 CL E G H	1282	180000	Retinal arteries, tortuosity of	180000	C1867327	OMIM	1	114	2202	120130
HP:0000572	HP:0000572	Visual loss	2	COQ2 CL E G H	27235	607426	Coenzyme Q10 deficiency, primary 1	607426	C1843920	OMIM	1	33	25223	609825
HP:0000572	HP:0000572	Visual loss	2	CTSD CL E G H	1509	610127	Ceroid lipofuscinosis neuronal 10	610127	C1864669	OMIM	1	19	2529	116840
HP:0000572	HP:0000572	Visual loss	2	CYSLTR2 CL E G H	57105	39044				ORPHA	1	2	18274	605666
HP:0000572	HP:0000572	Visual loss	2	ELMO2 CL E G H	63916	606893	Vascular malformation, primary intraosseous	606893	C1847197	OMIM	1	5	17233	606421
HP:0000572	HP:0000572	Visual loss	2	EPM2A CL E G H	7957	254780	Lafora disease	254780	C0751783	OMIM	1	82	3413	607566
HP:0000572	HP:0000572	Visual loss	2	FLVCR1 CL E G H	28982	88628				ORPHA	1	17	24682	609144
HP:0000572	HP:0000572	Visual loss	2	FOXC1 CL E G H	2296	250923				ORPHA	1	139	3800	601090
HP:0000572	HP:0000572	Visual loss	2	GATA2 CL E G H	2624	3226	Lethal chondrodysplasia Seller type			ORPHA	1	151	4171	137295
HP:0000572	HP:0000572	Visual loss	2	GNA11 CL E G H	2767	39044				ORPHA	1	11	4379	139313
HP:0000572	HP:0000572	Visual loss	2	GNAQ CL E G H	2776	39044				ORPHA	1	6	4390	600998
HP:0000572	HP:0000572	Visual loss	2	HADHA CL E G H	3030	5				ORPHA	1	71	4801	600890
HP:0000572	HP:0000572	Visual loss	2	HARS CL E G H	3035	231183				ORPHA	1	13	4816	142810
HP:0000572	HP:0000572	Visual loss	2	HLA-A CL E G H	3105	179	Macrothrombocytopenia progressive deafness			ORPHA	1	77	4931	142800
HP:0000572	HP:0000572	Visual loss	2	HSD17B10 CL E G H	3028	300438	2-methyl-3-hydroxybutyric aciduria	300438	C3266731	OMIM	1	17	4800	300256
HP:0000572	HP:0000572	Visual loss	2	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	101	5213	601860
HP:0000572	HP:0000572	Visual loss	2	IFT140 CL E G H	9742	266920	Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia	266920	C1849437	OMIM	1	72	29077	614620
HP:0000572	HP:0000572	Visual loss	2	KIF1A CL E G H	547	2836				ORPHA	1	43	888	601255
HP:0000572	HP:0000572	Visual loss	2	LAMC3 CL E G H	10319	614115	Cortical malformations, occipital	614115	C3279875	OMIM	1	18	6494	604349
HP:0000572	HP:0000572	Visual loss	2	LSS CL E G H	4047	616509	Cataract 44	616509	C4225300	OMIM	1	9	6708	600909
HP:0000572	HP:0000572	Visual loss	2	MFSD8 CL E G H	256471	610951	Ceroid lipofuscinosis neuronal 7	610951	C1838571	OMIM	1	49	28486	611124
HP:0000572	HP:0000572	Visual loss	2	MT-ATP6 CL E G H	4508	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7414	516060
HP:0000572	HP:0000572	Visual loss	2	MT-CO3 CL E G H	4514	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7422	516050
HP:0000572	HP:0000572	Visual loss	2	MT-CYB CL E G H	4519	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7427	516020
HP:0000572	HP:0000572	Visual loss	2	MT-ND1 CL E G H	4535	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7455	516000
HP:0000572	HP:0000572	Visual loss	2	MT-ND2 CL E G H	4536	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7456	516001
HP:0000572	HP:0000572	Visual loss	2	MT-ND4 CL E G H	4538	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7459	516003
HP:0000572	HP:0000572	Visual loss	2	MT-ND4L CL E G H	4539	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7460	516004
HP:0000572	HP:0000572	Visual loss	2	MT-ND5 CL E G H	4540	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7461	516005
HP:0000572	HP:0000572	Visual loss	2	MT-ND6 CL E G H	4541	535000	Leber's optic atrophy	535000	C0917796	OMIM	1		7462	516006
HP:0000572	HP:0000572	Visual loss	2	MT-TS2 CL E G H	4575	231183				ORPHA	1		7498	590085
HP:0000572	HP:0000572	Visual loss	2	MYO7A CL E G H	4647	231169				ORPHA	1	527	7606	276903
HP:0000572	HP:0000572	Visual loss	2	MYO7A CL E G H	4647	231178				ORPHA	1	527	7606	276903
HP:0000572	HP:0000572	Visual loss	2	MYO7A CL E G H	4647	276900	Usher syndrome, type 1	276900	C1568247	OMIM	1	527	7606	276903
HP:0000572	HP:0000572	Visual loss	2	NHLRC1 CL E G H	378884	254780	Lafora disease	254780	C0751783	OMIM	1	71	21576	608072
HP:0000572	HP:0000572	Visual loss	2	NHS CL E G H	4810	627				ORPHA	1	52	7820	300457
HP:0000572	HP:0000572	Visual loss	2	NHS CL E G H	4810	302350	Nance-Horan syndrome	302350	C0796085	OMIM	1	52	7820	300457
HP:0000572	HP:0000572	Visual loss	2	PAX6 CL E G H	5080	250923				ORPHA	1	571	8620	607108
HP:0000572	HP:0000572	Visual loss	2	PCDH15 CL E G H	65217	231169				ORPHA	1	122	14674	605514
HP:0000572	HP:0000572	Visual loss	2	PCYT1A CL E G H	5130	85167				ORPHA	1	20	8754	123695
HP:0000572	HP:0000572	Visual loss	2	PDZD7 CL E G H	79955	231178				ORPHA	1	19	26257	612971
HP:0000572	HP:0000572	Visual loss	2	PEX13 CL E G H	5194	614885	Peroxisome biogenesis disorder 11B	614885	C3554001	OMIM	1	10	8855	601789
HP:0000572	HP:0000572	Visual loss	2	PLA2G6 CL E G H	8398	256600	Infantile neuroaxonal dystrophy	256600	C0270724	OMIM	1	179	9039	603604
HP:0000572	HP:0000572	Visual loss	2	POLA1 CL E G H	5422	301220	Pigmentary disorder, reticulate, with systemic manifestations, X-linked	301220	C1845050	OMIM	1	2	9173	312040
HP:0000572	HP:0000572	Visual loss	2	POLG CL E G H	5428	203700	Progressive sclerosing poliodystrophy	203700	C0205710	OMIM	1	300	9179	174763
HP:0000572	HP:0000572	Visual loss	2	PRDM5 CL E G H	11107	90354				ORPHA	1	13	9349	614161
HP:0000572	HP:0000572	Visual loss	2	PRPS1 CL E G H	5631	301835	Arts syndrome	301835	C0796028	OMIM	1	32	9462	311850
HP:0000572	HP:0000572	Visual loss	2	SF3B1 CL E G H	23451	39044				ORPHA	1	4	10768	605590
HP:0000572	HP:0000572	Visual loss	2	SLC19A2 CL E G H	10560	249270	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	249270	C0342287	OMIM	1	51	10938	603941
HP:0000572	HP:0000572	Visual loss	2	SMCHD1 CL E G H	23347	2250	Familial band heterotopia			ORPHA	1	125	29090	614982
HP:0000572	HP:0000572	Visual loss	2	SOST CL E G H	50964	269500	Sclerosteosis 1	269500	CN032489	OMIM	1	17	13771	605740
HP:0000572	HP:0000572	Visual loss	2	SOX2 CL E G H	6657	77298				ORPHA	1	105	11195	184429
HP:0000572	HP:0000572	Visual loss	2	SRD5A3 CL E G H	79644	612379	Congenital disorder of glycosylation type 1Q	612379	C3150191	OMIM	1	16	25812	611715
HP:0000572	HP:0000572	Visual loss	2	ST3GAL5 CL E G H	8869	609056	Amish infantile epilepsy syndrome	609056	C1836824	OMIM	1	7	10872	604402
HP:0000572	HP:0000572	Visual loss	2	TBC1D24 CL E G H	57465	615338	Early infantile epileptic encephalopathy 16	615338	C3809173	OMIM	1	56	29203	613577
HP:0000572	HP:0000572	Visual loss	2	TCOF1 CL E G H	6949	154500	Treacher Collins syndrome 1	154500	CN119605	OMIM	1	333	11654	606847
HP:0000572	HP:0000572	Visual loss	2	TFG CL E G H	10342	615658	Spastic paraplegia 57, autosomal recessive	615658	C3714897	OMIM	1	8	11758	602498
HP:0000572	HP:0000572	Visual loss	2	TRIM44 CL E G H	54765	250923				ORPHA	1	1	19016	612298
HP:0000572	HP:0000572	Visual loss	2	USH1C CL E G H	10083	231169				ORPHA	1	51	12597	605242
HP:0000572	HP:0000572	Visual loss	2	USH1C CL E G H	10083	276900	Usher syndrome, type 1	276900	C1568247	OMIM	1	51	12597	605242
HP:0000572	HP:0000572	Visual loss	2	USH1G CL E G H	124590	231169				ORPHA	1	32	16356	607696
HP:0000572	HP:0000572	Visual loss	2	USH2A CL E G H	7399	231178				ORPHA	1	1234	12601	608400
HP:0000572	HP:0000572	Visual loss	2	VCAN CL E G H	1462	143200	Wagner syndrome	143200	C0339540	OMIM	1	24	2464	118661
HP:0000572	HP:0000572	Visual loss	2	WHRN CL E G H	25861	231178				ORPHA	1	32	16361	607928
HP:0000572	HP:0000572	Visual loss	2	XYLT2 CL E G H	64132	85194				ORPHA	1	13	15517	608125
HP:0000572	HP:0000572	Visual loss	2	ZNF469 CL E G H	84627	90354				ORPHA	1	69	23216	612078
HP:0000572	HP:0000572	Visual loss	2	ZNF469 CL E G H	84627	229200	Corneal fragility keratoglobus, blue sclerae AND joint hypermobility	229200	C0268344	OMIM	1	69	23216	612078
HP:0000572	HP:0000572	Visual loss	2	ZNHIT3 CL E G H	9326	2836				ORPHA	1	1	12309	604500
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000572	HP:0000572	Visual loss	0	ADAMTS10 CL E G H	81794	3449	Mehes syndrome			ORPHA	0	15	13201	608990
HP:0000572	HP:0000572	Visual loss	0	AHI1 CL E G H	54806	220493				ORPHA	0	96	21575	608894
HP:0000572	HP:0000572	Visual loss	0	CDH23 CL E G H	64072	96253				ORPHA	0	361	13733	605516
HP:0000572	HP:0000572	Visual loss	0	CEP120 CL E G H	153241	220493				ORPHA	0	9	26690	613446
HP:0000572	HP:0000572	Visual loss	0	CEP41 CL E G H	95681	220493				ORPHA	0	11	12370	610523
HP:0000572	HP:0000572	Visual loss	0	COL2A1 CL E G H	1280	90653				ORPHA	0	570	2200	120140
HP:0000572	HP:0000572	Visual loss	0	COL7A1 CL E G H	1294	89842				ORPHA	0	828	2214	120120
HP:0000572	HP:0000572	Visual loss	0	COX7B CL E G H	1349	2556				ORPHA	0	5	2291	300885
HP:0000572	HP:0000572	Visual loss	0	CSPP1 CL E G H	79848	397715				ORPHA	0	27	26193	611654
HP:0000572	HP:0000572	Visual loss	0	CYP1B1 CL E G H	1545	98976				ORPHA	0	243	2597	601771
HP:0000572	HP:0000572	Visual loss	0	FBN1 CL E G H	2200	3449	Mehes syndrome			ORPHA	0	2721	3603	134797
HP:0000572	HP:0000572	Visual loss	0	FGFR2 CL E G H	2263	93259				ORPHA	0	159	3689	176943
HP:0000572	HP:0000572	Visual loss	0	HCCS CL E G H	3052	2556				ORPHA	0	14	4837	300056
HP:0000572	HP:0000572	Visual loss	0	INPP5E CL E G H	56623	220493				ORPHA	0	54	21474	613037
HP:0000572	HP:0000572	Visual loss	0	KCTD7 CL E G H	154881	611726	Epilepsy, progressive myoclonic 3	611726	C2673257	OMIM	0	21	21957	611725
HP:0000572	HP:0000572	Visual loss	0	KIAA0586 CL E G H	9786	397715				ORPHA	0	31	19960	610178
HP:0000572	HP:0000572	Visual loss	0	KIF11 CL E G H	3832	2526				ORPHA	0	70	6388	148760
HP:0000572	HP:0000572	Visual loss	0	LMNB1 CL E G H	4001	99027				ORPHA	0	35	6637	150340
HP:0000572	HP:0000572	Visual loss	0	LTBP2 CL E G H	4053	98976				ORPHA	0	29	6715	602091
HP:0000572	HP:0000572	Visual loss	0	LTBP2 CL E G H	4053	3449	Mehes syndrome			ORPHA	0	29	6715	602091
HP:0000572	HP:0000572	Visual loss	0	MKS1 CL E G H	54903	220493				ORPHA	0	52	7121	609883
HP:0000572	HP:0000572	Visual loss	0	MYOC CL E G H	4653	98976				ORPHA	0	143	7610	601652
HP:0000572	HP:0000572	Visual loss	0	NDUFB11 CL E G H	54539	2556				ORPHA	0	6	20372	300403
HP:0000572	HP:0000572	Visual loss	0	NOD2 CL E G H	64127	90340				ORPHA	0	121	5331	605956
HP:0000572	HP:0000572	Visual loss	0	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	0	379	7883	600276
HP:0000572	HP:0000572	Visual loss	0	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	0	28	8896	311800
HP:0000572	HP:0000572	Visual loss	0	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	0	5	9119	603131
HP:0000572	HP:0000572	Visual loss	0	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	0	14	9652	600716
HP:0000572	HP:0000572	Visual loss	0	SLC19A2 CL E G H	10560	49827				ORPHA	0	51	10938	603941
HP:0000572	HP:0000572	Visual loss	0	SLC52A2 CL E G H	79581	614707	Brown-Vialetto-Van Laere syndrome 2	614707	C3553538	OMIM	0	27	30224	607882
HP:0000572	HP:0000572	Visual loss	0	SPATA7 CL E G H	55812	604232	Leber congenital amaurosis 3	604232	C1858677	OMIM	0	39	20423	609868
HP:0000572	HP:0000572	Visual loss	0	TAT CL E G H	6898	28378				ORPHA	0	36	11573	613018
HP:0000572	HP:0000572	Visual loss	0	TEK CL E G H	7010	98976				ORPHA	0	35	11724	600221
HP:0000572	HP:0000572	Visual loss	0	TUBB3 CL E G H	10381	300570				ORPHA	0	26	20772	602661
HP:0000572	HP:0000572	Visual loss	0	USP8 CL E G H	9101	96253				ORPHA	0	1	12631	603158
HP:0000572	HP:0000572	Visual loss	0	VHL CL E G H	7428	892	Billet Bear syndrome			ORPHA	0	617	12687	608537
HP:0000572	HP:0000572	Visual loss	1	ADAMTS10 CL E G H	81794	3449	Mehes syndrome			ORPHA	0	15	13201	608990
HP:0000572	HP:0000572	Visual loss	1	AHI1 CL E G H	54806	220493				ORPHA	0	96	21575	608894
HP:0000572	HP:0000572	Visual loss	1	CDH23 CL E G H	64072	96253				ORPHA	0	361	13733	605516
HP:0000572	HP:0000572	Visual loss	1	CEP120 CL E G H	153241	220493				ORPHA	0	9	26690	613446
HP:0000572	HP:0000572	Visual loss	1	CEP41 CL E G H	95681	220493				ORPHA	0	11	12370	610523
HP:0000572	HP:0000572	Visual loss	1	COL2A1 CL E G H	1280	90653				ORPHA	0	570	2200	120140
HP:0000572	HP:0000572	Visual loss	1	COL7A1 CL E G H	1294	89842				ORPHA	0	828	2214	120120
HP:0000572	HP:0000572	Visual loss	1	COX7B CL E G H	1349	2556				ORPHA	0	5	2291	300885
HP:0000572	HP:0000572	Visual loss	1	CSPP1 CL E G H	79848	397715				ORPHA	0	27	26193	611654
HP:0000572	HP:0000572	Visual loss	1	CYP1B1 CL E G H	1545	98976				ORPHA	0	243	2597	601771
HP:0000572	HP:0000572	Visual loss	1	FBN1 CL E G H	2200	3449	Mehes syndrome			ORPHA	0	2721	3603	134797
HP:0000572	HP:0000572	Visual loss	1	FGFR2 CL E G H	2263	93259				ORPHA	0	159	3689	176943
HP:0000572	HP:0000572	Visual loss	1	HCCS CL E G H	3052	2556				ORPHA	0	14	4837	300056
HP:0000572	HP:0000572	Visual loss	1	INPP5E CL E G H	56623	220493				ORPHA	0	54	21474	613037
HP:0000572	HP:0000572	Visual loss	1	KCTD7 CL E G H	154881	611726	Epilepsy, progressive myoclonic 3	611726	C2673257	OMIM	0	21	21957	611725
HP:0000572	HP:0000572	Visual loss	1	KIAA0586 CL E G H	9786	397715				ORPHA	0	31	19960	610178
HP:0000572	HP:0000572	Visual loss	1	KIF11 CL E G H	3832	2526				ORPHA	0	70	6388	148760
HP:0000572	HP:0000572	Visual loss	1	LMNB1 CL E G H	4001	99027				ORPHA	0	35	6637	150340
HP:0000572	HP:0000572	Visual loss	1	LTBP2 CL E G H	4053	98976				ORPHA	0	29	6715	602091
HP:0000572	HP:0000572	Visual loss	1	LTBP2 CL E G H	4053	3449	Mehes syndrome			ORPHA	0	29	6715	602091
HP:0000572	HP:0000572	Visual loss	1	MKS1 CL E G H	54903	220493				ORPHA	0	52	7121	609883
HP:0000572	HP:0000572	Visual loss	1	MYOC CL E G H	4653	98976				ORPHA	0	143	7610	601652
HP:0000572	HP:0000572	Visual loss	1	NDUFB11 CL E G H	54539	2556				ORPHA	0	6	20372	300403
HP:0000572	HP:0000572	Visual loss	1	NOD2 CL E G H	64127	90340				ORPHA	0	121	5331	605956
HP:0000572	HP:0000572	Visual loss	1	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	0	379	7883	600276
HP:0000572	HP:0000572	Visual loss	1	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	0	28	8896	311800
HP:0000572	HP:0000572	Visual loss	1	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	0	5	9119	603131
HP:0000572	HP:0000572	Visual loss	1	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	0	14	9652	600716
HP:0000572	HP:0000572	Visual loss	1	SLC19A2 CL E G H	10560	49827				ORPHA	0	51	10938	603941
HP:0000572	HP:0000572	Visual loss	1	SLC52A2 CL E G H	79581	614707	Brown-Vialetto-Van Laere syndrome 2	614707	C3553538	OMIM	0	27	30224	607882
HP:0000572	HP:0000572	Visual loss	1	SPATA7 CL E G H	55812	604232	Leber congenital amaurosis 3	604232	C1858677	OMIM	0	39	20423	609868
HP:0000572	HP:0000572	Visual loss	1	TAT CL E G H	6898	28378				ORPHA	0	36	11573	613018
HP:0000572	HP:0000572	Visual loss	1	TEK CL E G H	7010	98976				ORPHA	0	35	11724	600221
HP:0000572	HP:0000572	Visual loss	1	TUBB3 CL E G H	10381	300570				ORPHA	0	26	20772	602661
HP:0000572	HP:0000572	Visual loss	1	USP8 CL E G H	9101	96253				ORPHA	0	1	12631	603158
HP:0000572	HP:0000572	Visual loss	1	VHL CL E G H	7428	892	Billet Bear syndrome			ORPHA	0	617	12687	608537
HP:0000572	HP:0000572	Visual loss	2	ADAMTS10 CL E G H	81794	3449	Mehes syndrome			ORPHA	0	15	13201	608990
HP:0000572	HP:0000572	Visual loss	2	AHI1 CL E G H	54806	220493				ORPHA	0	96	21575	608894
HP:0000572	HP:0000572	Visual loss	2	CDH23 CL E G H	64072	96253				ORPHA	0	361	13733	605516
HP:0000572	HP:0000572	Visual loss	2	CEP120 CL E G H	153241	220493				ORPHA	0	9	26690	613446
HP:0000572	HP:0000572	Visual loss	2	CEP41 CL E G H	95681	220493				ORPHA	0	11	12370	610523
HP:0000572	HP:0000572	Visual loss	2	COL2A1 CL E G H	1280	90653				ORPHA	0	570	2200	120140
HP:0000572	HP:0000572	Visual loss	2	COL7A1 CL E G H	1294	89842				ORPHA	0	828	2214	120120
HP:0000572	HP:0000572	Visual loss	2	COX7B CL E G H	1349	2556				ORPHA	0	5	2291	300885
HP:0000572	HP:0000572	Visual loss	2	CSPP1 CL E G H	79848	397715				ORPHA	0	27	26193	611654
HP:0000572	HP:0000572	Visual loss	2	CYP1B1 CL E G H	1545	98976				ORPHA	0	243	2597	601771
HP:0000572	HP:0000572	Visual loss	2	FBN1 CL E G H	2200	3449	Mehes syndrome			ORPHA	0	2721	3603	134797
HP:0000572	HP:0000572	Visual loss	2	FGFR2 CL E G H	2263	93259				ORPHA	0	159	3689	176943
HP:0000572	HP:0000572	Visual loss	2	HCCS CL E G H	3052	2556				ORPHA	0	14	4837	300056
HP:0000572	HP:0000572	Visual loss	2	INPP5E CL E G H	56623	220493				ORPHA	0	54	21474	613037
HP:0000572	HP:0000572	Visual loss	2	KCTD7 CL E G H	154881	611726	Epilepsy, progressive myoclonic 3	611726	C2673257	OMIM	0	21	21957	611725
HP:0000572	HP:0000572	Visual loss	2	KIAA0586 CL E G H	9786	397715				ORPHA	0	31	19960	610178
HP:0000572	HP:0000572	Visual loss	2	KIF11 CL E G H	3832	2526				ORPHA	0	70	6388	148760
HP:0000572	HP:0000572	Visual loss	2	LMNB1 CL E G H	4001	99027				ORPHA	0	35	6637	150340
HP:0000572	HP:0000572	Visual loss	2	LTBP2 CL E G H	4053	98976				ORPHA	0	29	6715	602091
HP:0000572	HP:0000572	Visual loss	2	LTBP2 CL E G H	4053	3449	Mehes syndrome			ORPHA	0	29	6715	602091
HP:0000572	HP:0000572	Visual loss	2	MKS1 CL E G H	54903	220493				ORPHA	0	52	7121	609883
HP:0000572	HP:0000572	Visual loss	2	MYOC CL E G H	4653	98976				ORPHA	0	143	7610	601652
HP:0000572	HP:0000572	Visual loss	2	NDUFB11 CL E G H	54539	2556				ORPHA	0	6	20372	300403
HP:0000572	HP:0000572	Visual loss	2	NOD2 CL E G H	64127	90340				ORPHA	0	121	5331	605956
HP:0000572	HP:0000572	Visual loss	2	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	0	379	7883	600276
HP:0000572	HP:0000572	Visual loss	2	PGK1 CL E G H	5230	300653	Phosphoglycerate kinase 1 deficiency	300653	C1970848	OMIM	0	28	8896	311800
HP:0000572	HP:0000572	Visual loss	2	PMPCB CL E G H	9512	617954	MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6	617954	CN244567	OMIM	0	5	9119	603131
HP:0000572	HP:0000572	Visual loss	2	PTPN22 CL E G H	26191	397	Herrmann Opitz arthrogryposis syndrome			ORPHA	0	14	9652	600716
HP:0000572	HP:0000572	Visual loss	2	SLC19A2 CL E G H	10560	49827				ORPHA	0	51	10938	603941
HP:0000572	HP:0000572	Visual loss	2	SLC52A2 CL E G H	79581	614707	Brown-Vialetto-Van Laere syndrome 2	614707	C3553538	OMIM	0	27	30224	607882
HP:0000572	HP:0000572	Visual loss	2	SPATA7 CL E G H	55812	604232	Leber congenital amaurosis 3	604232	C1858677	OMIM	0	39	20423	609868
HP:0000572	HP:0000572	Visual loss	2	TAT CL E G H	6898	28378				ORPHA	0	36	11573	613018
HP:0000572	HP:0000572	Visual loss	2	TEK CL E G H	7010	98976				ORPHA	0	35	11724	600221
HP:0000572	HP:0000572	Visual loss	2	TUBB3 CL E G H	10381	300570				ORPHA	0	26	20772	602661
HP:0000572	HP:0000572	Visual loss	2	USP8 CL E G H	9101	96253				ORPHA	0	1	12631	603158
HP:0000572	HP:0000572	Visual loss	2	VHL CL E G H	7428	892	Billet Bear syndrome			ORPHA	0	617	12687	608537