Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000505	HP:0000505	Visual impairment	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040282 - Frequent		57
HP:0000505	HP:0000505	Visual impairment	0	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0000505	HP:0000505	Visual impairment	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.		191
HP:0000505	HP:0000505	Visual impairment	0	ABCA4 CL E G H	24	34	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		826
HP:0000505	HP:0000505	Visual impairment	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000505	HP:0000505	Visual impairment	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0000505	HP:0000505	Visual impairment	0	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19			826
HP:0000505	HP:0000505	Visual impairment	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease			826
HP:0000505	HP:0000505	Visual impairment	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		415
HP:0000505	HP:0000505	Visual impairment	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.		415
HP:0000505	HP:0000505	Visual impairment	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0000505	HP:0000505	Visual impairment	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0000505	HP:0000505	Visual impairment	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0000505	HP:0000505	Visual impairment	0	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9	.		60
HP:0000505	HP:0000505	Visual impairment	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0000505	HP:0000505	Visual impairment	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0000505	HP:0000505	Visual impairment	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome			22
HP:0000505	HP:0000505	Visual impairment	0	ADAM9 CL E G H	8754	216	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		41
HP:0000505	HP:0000505	Visual impairment	0	ADAM9 CL E G H	8754	216	OMIM:612775	Cone-Rod dystrophy 9	.	HP:0011463 - Childhood onset	41
HP:0000505	HP:0000505	Visual impairment	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0000505	HP:0000505	Visual impairment	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0000505	HP:0000505	Visual impairment	0	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		84
HP:0000505	HP:0000505	Visual impairment	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0000505	HP:0000505	Visual impairment	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000505	HP:0000505	Visual impairment	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000505	HP:0000505	Visual impairment	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.		47
HP:0000505	HP:0000505	Visual impairment	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000505	HP:0000505	Visual impairment	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000505	HP:0000505	Visual impairment	0	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12			86
HP:0000505	HP:0000505	Visual impairment	0	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000505	HP:0000505	Visual impairment	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000505	HP:0000505	Visual impairment	0	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75			2
HP:0000505	HP:0000505	Visual impairment	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000505	HP:0000505	Visual impairment	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000505	HP:0000505	Visual impairment	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000505	HP:0000505	Visual impairment	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0000505	HP:0000505	Visual impairment	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0000505	HP:0000505	Visual impairment	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0000505	HP:0000505	Visual impairment	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000505	HP:0000505	Visual impairment	0	AHR CL E G H	196	348	OMIM:618345	RETINITIS PIGMENTOSA 85; RP85			2
HP:0000505	HP:0000505	Visual impairment	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent		60
HP:0000505	HP:0000505	Visual impairment	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0000505	HP:0000505	Visual impairment	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000505	HP:0000505	Visual impairment	0	AIPL1 CL E G H	23746	359	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		114
HP:0000505	HP:0000505	Visual impairment	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis			114
HP:0000505	HP:0000505	Visual impairment	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0000505	HP:0000505	Visual impairment	0	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa			114
HP:0000505	HP:0000505	Visual impairment	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000505	HP:0000505	Visual impairment	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040281 - Very frequent		92
HP:0000505	HP:0000505	Visual impairment	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000505	HP:0000505	Visual impairment	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly			19
HP:0000505	HP:0000505	Visual impairment	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0000505	HP:0000505	Visual impairment	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii	.		46
HP:0000505	HP:0000505	Visual impairment	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000505	HP:0000505	Visual impairment	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000505	HP:0000505	Visual impairment	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000505	HP:0000505	Visual impairment	0	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0000505	HP:0000505	Visual impairment	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency	.		44
HP:0000505	HP:0000505	Visual impairment	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0000505	HP:0000505	Visual impairment	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9			21
HP:0000505	HP:0000505	Visual impairment	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm
HP:0000505	HP:0000505	Visual impairment	0	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional		164
HP:0000505	HP:0000505	Visual impairment	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0000505	HP:0000505	Visual impairment	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0000505	HP:0000505	Visual impairment	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		65
HP:0000505	HP:0000505	Visual impairment	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040282 - Frequent		8
HP:0000505	HP:0000505	Visual impairment	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000505	HP:0000505	Visual impairment	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000505	HP:0000505	Visual impairment	0	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness	HP:0040281 - Very frequent		1
HP:0000505	HP:0000505	Visual impairment	0	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040283 - Occasional		1
HP:0000505	HP:0000505	Visual impairment	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0000505	HP:0000505	Visual impairment	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0000505	HP:0000505	Visual impairment	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0000505	HP:0000505	Visual impairment	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0000505	HP:0000505	Visual impairment	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional		3179
HP:0000505	HP:0000505	Visual impairment	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1			39
HP:0000505	HP:0000505	Visual impairment	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8			3
HP:0000505	HP:0000505	Visual impairment	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0000505	HP:0000505	Visual impairment	0	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78			6
HP:0000505	HP:0000505	Visual impairment	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000505	HP:0000505	Visual impairment	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0000505	HP:0000505	Visual impairment	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.		88
HP:0000505	HP:0000505	Visual impairment	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0000505	HP:0000505	Visual impairment	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0000505	HP:0000505	Visual impairment	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0000505	HP:0000505	Visual impairment	0	ARL2 CL E G H	402	693	OMIM:619082	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0000505	HP:0000505	Visual impairment	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000505	HP:0000505	Visual impairment	0	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus			3
HP:0000505	HP:0000505	Visual impairment	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000505	HP:0000505	Visual impairment	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000505	HP:0000505	Visual impairment	0	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0000505	HP:0000505	Visual impairment	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000505	HP:0000505	Visual impairment	0	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0000505	HP:0000505	Visual impairment	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0000505	HP:0000505	Visual impairment	0	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa			29
HP:0000505	HP:0000505	Visual impairment	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0000505	HP:0000505	Visual impairment	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent
HP:0000505	HP:0000505	Visual impairment	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0000505	HP:0000505	Visual impairment	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000505	HP:0000505	Visual impairment	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0000505	HP:0000505	Visual impairment	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0000505	HP:0000505	Visual impairment	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0000505	HP:0000505	Visual impairment	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000505	HP:0000505	Visual impairment	0	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000505	HP:0000505	Visual impairment	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0000505	HP:0000505	Visual impairment	0	ASB10 CL E G H	136371	17185	OMIM:603383	GLAUCOMA 1, OPEN ANGLE, F; GLC1F			54
HP:0000505	HP:0000505	Visual impairment	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0000505	HP:0000505	Visual impairment	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000505	HP:0000505	Visual impairment	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0000505	HP:0000505	Visual impairment	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs			4
HP:0000505	HP:0000505	Visual impairment	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0000505	HP:0000505	Visual impairment	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000505	HP:0000505	Visual impairment	0	ATF6 CL E G H	22926	791	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		10
HP:0000505	HP:0000505	Visual impairment	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0000505	HP:0000505	Visual impairment	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0000505	HP:0000505	Visual impairment	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0000505	HP:0000505	Visual impairment	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000505	HP:0000505	Visual impairment	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000505	HP:0000505	Visual impairment	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000505	HP:0000505	Visual impairment	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0000505	HP:0000505	Visual impairment	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000505	Visual impairment	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000505	Visual impairment	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0000505	HP:0000505	Visual impairment	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0000505	HP:0000505	Visual impairment	0	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0000505	HP:0000505	Visual impairment	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0000505	HP:0000505	Visual impairment	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040283 - Occasional		169
HP:0000505	HP:0000505	Visual impairment	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0000505	HP:0000505	Visual impairment	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0000505	HP:0000505	Visual impairment	0	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		43
HP:0000505	HP:0000505	Visual impairment	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11			43
HP:0000505	HP:0000505	Visual impairment	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000505	HP:0000505	Visual impairment	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0000505	HP:0000505	Visual impairment	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0000505	HP:0000505	Visual impairment	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000505	HP:0000505	Visual impairment	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma			184
HP:0000505	HP:0000505	Visual impairment	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000505	HP:0000505	Visual impairment	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0000505	HP:0000505	Visual impairment	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0000505	HP:0000505	Visual impairment	0	BBS2 CL E G H	583	967	OMIM:616562	Retinitis pigmentosa 74			97
HP:0000505	HP:0000505	Visual impairment	0	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5			25
HP:0000505	HP:0000505	Visual impairment	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		18
HP:0000505	HP:0000505	Visual impairment	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		101
HP:0000505	HP:0000505	Visual impairment	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000505	HP:0000505	Visual impairment	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000505	HP:0000505	Visual impairment	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		5
HP:0000505	HP:0000505	Visual impairment	0	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent		182
HP:0000505	HP:0000505	Visual impairment	0	BEST1 CL E G H	7439	12703	ORPHA:1243	Best vitelliform macular dystrophy	HP:0040281 - Very frequent		182
HP:0000505	HP:0000505	Visual impairment	0	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0000505	HP:0000505	Visual impairment	0	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2	.		182
HP:0000505	HP:0000505	Visual impairment	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0000505	HP:0000505	Visual impairment	0	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50			182
HP:0000505	HP:0000505	Visual impairment	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY			182
HP:0000505	HP:0000505	Visual impairment	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0000505	HP:0000505	Visual impairment	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000505	HP:0000505	Visual impairment	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000505	HP:0000505	Visual impairment	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0000505	HP:0000505	Visual impairment	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	HP:0040283 - Occasional		14
HP:0000505	HP:0000505	Visual impairment	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000505	HP:0000505	Visual impairment	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000505	HP:0000505	Visual impairment	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040283 - Occasional		276
HP:0000505	HP:0000505	Visual impairment	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	HP:0040284 - Very rare		20
HP:0000505	HP:0000505	Visual impairment	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0000505	HP:0000505	Visual impairment	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0000505	HP:0000505	Visual impairment	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0000505	HP:0000505	Visual impairment	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0000505	HP:0000505	Visual impairment	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0000505	HP:0000505	Visual impairment	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0000505	HP:0000505	Visual impairment	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0000505	HP:0000505	Visual impairment	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0000505	HP:0000505	Visual impairment	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000505	HP:0000505	Visual impairment	0	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration			20
HP:0000505	HP:0000505	Visual impairment	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000505	HP:0000505	Visual impairment	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0000505	HP:0000505	Visual impairment	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.		29
HP:0000505	HP:0000505	Visual impairment	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0000505	HP:0000505	Visual impairment	0	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000505	HP:0000505	Visual impairment	0	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0000505	HP:0000505	Visual impairment	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000505	HP:0000505	Visual impairment	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements			5
HP:0000505	HP:0000505	Visual impairment	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0000505	HP:0000505	Visual impairment	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0000505	HP:0000505	Visual impairment	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0000505	HP:0000505	Visual impairment	0	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease			58
HP:0000505	HP:0000505	Visual impairment	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease			58
HP:0000505	HP:0000505	Visual impairment	0	CACNA1F CL E G H	778	1393	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		58
HP:0000505	HP:0000505	Visual impairment	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000505	HP:0000505	Visual impairment	0	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0000505	HP:0000505	Visual impairment	0	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A	.		58
HP:0000505	HP:0000505	Visual impairment	0	CACNA2D4 CL E G H	93589	20202	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		129
HP:0000505	HP:0000505	Visual impairment	0	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0000505	HP:0000505	Visual impairment	0	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0000505	HP:0000505	Visual impairment	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54	.
HP:0000505	HP:0000505	Visual impairment	0	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory			6
HP:0000505	HP:0000505	Visual impairment	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0000505	HP:0000505	Visual impairment	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.		35
HP:0000505	HP:0000505	Visual impairment	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent		118
HP:0000505	HP:0000505	Visual impairment	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0000505	HP:0000505	Visual impairment	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0000505	HP:0000505	Visual impairment	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0000505	HP:0000505	Visual impairment	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0000505	HP:0000505	Visual impairment	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		247
HP:0000505	HP:0000505	Visual impairment	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		247
HP:0000505	HP:0000505	Visual impairment	0	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93			247
HP:0000505	HP:0000505	Visual impairment	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000505	HP:0000505	Visual impairment	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0000505	HP:0000505	Visual impairment	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0000505	HP:0000505	Visual impairment	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0000505	HP:0000505	Visual impairment	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0000505	HP:0000505	Visual impairment	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			8
HP:0000505	HP:0000505	Visual impairment	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000505	HP:0000505	Visual impairment	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000505	HP:0000505	Visual impairment	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040283 - Occasional		636
HP:0000505	HP:0000505	Visual impairment	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000505	HP:0000505	Visual impairment	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000505	HP:0000505	Visual impairment	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000505	HP:0000505	Visual impairment	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0000505	HP:0000505	Visual impairment	0	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0000505	HP:0000505	Visual impairment	0	CDHR1 CL E G H	92211	14550	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		147
HP:0000505	HP:0000505	Visual impairment	0	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000505	HP:0000505	Visual impairment	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0000505	HP:0000505	Visual impairment	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000505	HP:0000505	Visual impairment	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0000505	HP:0000505	Visual impairment	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0000505	HP:0000505	Visual impairment	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0000505	HP:0000505	Visual impairment	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0000505	HP:0000505	Visual impairment	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0000505	HP:0000505	Visual impairment	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0000505	HP:0000505	Visual impairment	0	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15			34
HP:0000505	HP:0000505	Visual impairment	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		34
HP:0000505	HP:0000505	Visual impairment	0	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000505	HP:0000505	Visual impairment	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0000505	HP:0000505	Visual impairment	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		342
HP:0000505	HP:0000505	Visual impairment	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis			342
HP:0000505	HP:0000505	Visual impairment	0	CEP290 CL E G H	80184	29021	OMIM:611755	Leber congenital amaurosis 10	.	HP:0003577 - Congenital onset	342
HP:0000505	HP:0000505	Visual impairment	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		342
HP:0000505	HP:0000505	Visual impairment	0	CEP290 CL E G H	80184	29021	OMIM:610189	Senior-Loken syndrome 6	.		342
HP:0000505	HP:0000505	Visual impairment	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0000505	HP:0000505	Visual impairment	0	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000505	HP:0000505	Visual impairment	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000505	HP:0000505	Visual impairment	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0000505	HP:0000505	Visual impairment	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0000505	HP:0000505	Visual impairment	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0000505	HP:0000505	Visual impairment	0	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0000505	HP:0000505	Visual impairment	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0000505	HP:0000505	Visual impairment	0	CFAP410 CL E G H	755	1260	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	CFAP410 CL E G H	755	1260	OMIM:617547	Retinal dystrophy with or without macular staphyloma
HP:0000505	HP:0000505	Visual impairment	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000505	HP:0000505	Visual impairment	0	CFAP418 CL E G H	157657	27232	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000505	HP:0000505	Visual impairment	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000505	HP:0000505	Visual impairment	0	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa
HP:0000505	HP:0000505	Visual impairment	0	CFH CL E G H	3075	4883	OMIM:126700	Basal laminar drusen			86
HP:0000505	HP:0000505	Visual impairment	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen			86
HP:0000505	HP:0000505	Visual impairment	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000505	HP:0000505	Visual impairment	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000505	HP:0000505	Visual impairment	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen			57
HP:0000505	HP:0000505	Visual impairment	0	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13			57
HP:0000505	HP:0000505	Visual impairment	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0000505	HP:0000505	Visual impairment	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		515
HP:0000505	HP:0000505	Visual impairment	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0000505	HP:0000505	Visual impairment	0	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA			47
HP:0000505	HP:0000505	Visual impairment	0	CHM CL E G H	1121	1940	ORPHA:180	Choroideremia	HP:0040281 - Very frequent		47
HP:0000505	HP:0000505	Visual impairment	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000505	HP:0000505	Visual impairment	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000505	HP:0000505	Visual impairment	0	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2			35
HP:0000505	HP:0000505	Visual impairment	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0000505	HP:0000505	Visual impairment	0	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA			9
HP:0000505	HP:0000505	Visual impairment	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000505	HP:0000505	Visual impairment	0	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy			129
HP:0000505	HP:0000505	Visual impairment	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000505	HP:0000505	Visual impairment	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.		7
HP:0000505	HP:0000505	Visual impairment	0	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0000505	HP:0000505	Visual impairment	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia			44
HP:0000505	HP:0000505	Visual impairment	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0000505	HP:0000505	Visual impairment	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0000505	HP:0000505	Visual impairment	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000505	HP:0000505	Visual impairment	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040282 - Frequent		102
HP:0000505	HP:0000505	Visual impairment	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0000505	HP:0000505	Visual impairment	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0000505	HP:0000505	Visual impairment	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare		102
HP:0000505	HP:0000505	Visual impairment	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2			102
HP:0000505	HP:0000505	Visual impairment	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.		102
HP:0000505	HP:0000505	Visual impairment	0	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0000505	HP:0000505	Visual impairment	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0000505	HP:0000505	Visual impairment	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000505	HP:0000505	Visual impairment	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5			141
HP:0000505	HP:0000505	Visual impairment	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040281 - Very frequent		141
HP:0000505	HP:0000505	Visual impairment	0	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6			143
HP:0000505	HP:0000505	Visual impairment	0	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8			111
HP:0000505	HP:0000505	Visual impairment	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040281 - Very frequent		111
HP:0000505	HP:0000505	Visual impairment	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040284 - Very rare		7
HP:0000505	HP:0000505	Visual impairment	0	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa			60
HP:0000505	HP:0000505	Visual impairment	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0000505	HP:0000505	Visual impairment	0	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0000505	HP:0000505	Visual impairment	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000505	HP:0000505	Visual impairment	0	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA			60
HP:0000505	HP:0000505	Visual impairment	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000505	HP:0000505	Visual impairment	0	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa			44
HP:0000505	HP:0000505	Visual impairment	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0000505	HP:0000505	Visual impairment	0	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0000505	HP:0000505	Visual impairment	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0000505	HP:0000505	Visual impairment	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000505	HP:0000505	Visual impairment	0	CNGA3 CL E G H	1261	2150	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		82
HP:0000505	HP:0000505	Visual impairment	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0000505	HP:0000505	Visual impairment	0	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45			164
HP:0000505	HP:0000505	Visual impairment	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0000505	HP:0000505	Visual impairment	0	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000505	HP:0000505	Visual impairment	0	CNGB3 CL E G H	54714	2153	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		194
HP:0000505	HP:0000505	Visual impairment	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease			194
HP:0000505	HP:0000505	Visual impairment	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000505	HP:0000505	Visual impairment	0	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome	HP:0040281 - Very frequent		61
HP:0000505	HP:0000505	Visual impairment	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0000505	HP:0000505	Visual impairment	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0000505	HP:0000505	Visual impairment	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0000505	HP:0000505	Visual impairment	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent		215
HP:0000505	HP:0000505	Visual impairment	0	COL17A1 CL E G H	1308	2194	OMIM:122400	Epithelial recurrent erosion dystrophy	.		129
HP:0000505	HP:0000505	Visual impairment	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0000505	HP:0000505	Visual impairment	0	COL18A1 CL E G H	80781	2195	OMIM:618880	GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC			177
HP:0000505	HP:0000505	Visual impairment	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome			177
HP:0000505	HP:0000505	Visual impairment	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000505	HP:0000505	Visual impairment	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000505	HP:0000505	Visual impairment	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		284
HP:0000505	HP:0000505	Visual impairment	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0000505	HP:0000505	Visual impairment	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0000505	HP:0000505	Visual impairment	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm			749
HP:0000505	HP:0000505	Visual impairment	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000505	HP:0000505	Visual impairment	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0000505	HP:0000505	Visual impairment	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0000505	HP:0000505	Visual impairment	0	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000505	HP:0000505	Visual impairment	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0000505	HP:0000505	Visual impairment	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000505	HP:0000505	Visual impairment	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000505	HP:0000505	Visual impairment	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0000505	HP:0000505	Visual impairment	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0000505	HP:0000505	Visual impairment	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0000505	HP:0000505	Visual impairment	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0000505	HP:0000505	Visual impairment	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8	.		1
HP:0000505	HP:0000505	Visual impairment	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000505	Visual impairment	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0000505	HP:0000505	Visual impairment	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0000505	HP:0000505	Visual impairment	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000505	Visual impairment	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000505	Visual impairment	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0000505	HP:0000505	Visual impairment	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0000505	HP:0000505	Visual impairment	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional		6
HP:0000505	HP:0000505	Visual impairment	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0000505	HP:0000505	Visual impairment	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000505	HP:0000505	Visual impairment	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis			156
HP:0000505	HP:0000505	Visual impairment	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.	HP:0011463 - Childhood onset	156
HP:0000505	HP:0000505	Visual impairment	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0000505	HP:0000505	Visual impairment	0	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000505	HP:0000505	Visual impairment	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000505	HP:0000505	Visual impairment	0	CRX CL E G H	1406	2383	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		158
HP:0000505	HP:0000505	Visual impairment	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000505	HP:0000505	Visual impairment	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis			158
HP:0000505	HP:0000505	Visual impairment	0	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7	.		158
HP:0000505	HP:0000505	Visual impairment	0	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa			158
HP:0000505	HP:0000505	Visual impairment	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0000505	HP:0000505	Visual impairment	0	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types	.		33
HP:0000505	HP:0000505	Visual impairment	0	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types			18
HP:0000505	HP:0000505	Visual impairment	0	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types	.		11
HP:0000505	HP:0000505	Visual impairment	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	HP:0040284 - Very rare		149
HP:0000505	HP:0000505	Visual impairment	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000505	HP:0000505	Visual impairment	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0000505	HP:0000505	Visual impairment	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		10
HP:0000505	HP:0000505	Visual impairment	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000505	HP:0000505	Visual impairment	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0000505	HP:0000505	Visual impairment	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0000505	HP:0000505	Visual impairment	0	CTNS CL E G H	1497	2518	ORPHA:411641	Ocular cystinosis	HP:0040281 - Very frequent		178
HP:0000505	HP:0000505	Visual impairment	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0000505	HP:0000505	Visual impairment	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0000505	HP:0000505	Visual impairment	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000505	HP:0000505	Visual impairment	0	CYP1B1 CL E G H	1545	2597	ORPHA:98976	Congenital glaucoma			101
HP:0000505	HP:0000505	Visual impairment	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		101
HP:0000505	HP:0000505	Visual impairment	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040281 - Very frequent		114
HP:0000505	HP:0000505	Visual impairment	0	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000505	HP:0000505	Visual impairment	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent		126
HP:0000505	HP:0000505	Visual impairment	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma			1
HP:0000505	HP:0000505	Visual impairment	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000505	Visual impairment	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000505	Visual impairment	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0000505	HP:0000505	Visual impairment	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		36
HP:0000505	HP:0000505	Visual impairment	0	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal			31
HP:0000505	HP:0000505	Visual impairment	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000505	HP:0000505	Visual impairment	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000505	HP:0000505	Visual impairment	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040283 - Occasional		57
HP:0000505	HP:0000505	Visual impairment	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000505	HP:0000505	Visual impairment	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0000505	HP:0000505	Visual impairment	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000505	HP:0000505	Visual impairment	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000505	HP:0000505	Visual impairment	0	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome			118
HP:0000505	HP:0000505	Visual impairment	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0000505	HP:0000505	Visual impairment	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0000505	HP:0000505	Visual impairment	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0000505	HP:0000505	Visual impairment	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0000505	HP:0000505	Visual impairment	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0000505	HP:0000505	Visual impairment	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0000505	HP:0000505	Visual impairment	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0000505	HP:0000505	Visual impairment	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0000505	HP:0000505	Visual impairment	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0000505	HP:0000505	Visual impairment	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0000505	HP:0000505	Visual impairment	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000505	Visual impairment	0	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000505	HP:0000505	Visual impairment	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040281 - Very frequent		94
HP:0000505	HP:0000505	Visual impairment	0	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000505	HP:0000505	Visual impairment	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0000505	HP:0000505	Visual impairment	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0000505	HP:0000505	Visual impairment	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000505	HP:0000505	Visual impairment	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0000505	HP:0000505	Visual impairment	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0000505	HP:0000505	Visual impairment	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0000505	HP:0000505	Visual impairment	0	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0000505	HP:0000505	Visual impairment	0	DRAM2 CL E G H	128338	28769	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		9
HP:0000505	HP:0000505	Visual impairment	0	DRAM2 CL E G H	128338	28769	OMIM:616502	Cone-Rod dystrophy 21			9
HP:0000505	HP:0000505	Visual impairment	0	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.		46
HP:0000505	HP:0000505	Visual impairment	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000505	HP:0000505	Visual impairment	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000505	HP:0000505	Visual impairment	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0000505	HP:0000505	Visual impairment	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.		80
HP:0000505	HP:0000505	Visual impairment	0	EFEMP1 CL E G H	2202	3218	OMIM:126600	Doyne honeycomb retinal dystrophy	.		54
HP:0000505	HP:0000505	Visual impairment	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen			54
HP:0000505	HP:0000505	Visual impairment	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		54
HP:0000505	HP:0000505	Visual impairment	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0000505	HP:0000505	Visual impairment	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0000505	HP:0000505	Visual impairment	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0000505	HP:0000505	Visual impairment	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0000505	HP:0000505	Visual impairment	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0000505	HP:0000505	Visual impairment	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous			3
HP:0000505	HP:0000505	Visual impairment	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0000505	HP:0000505	Visual impairment	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000505	HP:0000505	Visual impairment	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000505	HP:0000505	Visual impairment	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease			62
HP:0000505	HP:0000505	Visual impairment	0	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3			62
HP:0000505	HP:0000505	Visual impairment	0	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2			4
HP:0000505	HP:0000505	Visual impairment	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000505	HP:0000505	Visual impairment	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0000505	HP:0000505	Visual impairment	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm			186
HP:0000505	HP:0000505	Visual impairment	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0000505	HP:0000505	Visual impairment	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		151
HP:0000505	HP:0000505	Visual impairment	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0000505	HP:0000505	Visual impairment	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora			83
HP:0000505	HP:0000505	Visual impairment	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000505	HP:0000505	Visual impairment	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0000505	HP:0000505	Visual impairment	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0000505	HP:0000505	Visual impairment	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		20
HP:0000505	HP:0000505	Visual impairment	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		106
HP:0000505	HP:0000505	Visual impairment	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent		158
HP:0000505	HP:0000505	Visual impairment	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0000505	HP:0000505	Visual impairment	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.		158
HP:0000505	HP:0000505	Visual impairment	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		83
HP:0000505	HP:0000505	Visual impairment	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent		199
HP:0000505	HP:0000505	Visual impairment	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0000505	HP:0000505	Visual impairment	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		199
HP:0000505	HP:0000505	Visual impairment	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent		55
HP:0000505	HP:0000505	Visual impairment	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0000505	HP:0000505	Visual impairment	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000505	HP:0000505	Visual impairment	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000505	HP:0000505	Visual impairment	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000505	HP:0000505	Visual impairment	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000505	HP:0000505	Visual impairment	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.		4
HP:0000505	HP:0000505	Visual impairment	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000505	HP:0000505	Visual impairment	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0000505	HP:0000505	Visual impairment	0	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0000505	HP:0000505	Visual impairment	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0000505	HP:0000505	Visual impairment	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0000505	HP:0000505	Visual impairment	0	FAM161A CL E G H	84140	25808	OMIM:606068	RETINITIS PIGMENTOSA 28; RP28			56
HP:0000505	HP:0000505	Visual impairment	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0000505	HP:0000505	Visual impairment	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0000505	HP:0000505	Visual impairment	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0000505	HP:0000505	Visual impairment	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0000505	HP:0000505	Visual impairment	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0000505	HP:0000505	Visual impairment	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000505	HP:0000505	Visual impairment	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0000505	HP:0000505	Visual impairment	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000505	HP:0000505	Visual impairment	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0000505	HP:0000505	Visual impairment	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0000505	HP:0000505	Visual impairment	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0000505	HP:0000505	Visual impairment	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	HP:0040283 - Occasional		36
HP:0000505	HP:0000505	Visual impairment	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0000505	HP:0000505	Visual impairment	0	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040282 - Frequent		59
HP:0000505	HP:0000505	Visual impairment	0	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		1361
HP:0000505	HP:0000505	Visual impairment	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0000505	HP:0000505	Visual impairment	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0000505	HP:0000505	Visual impairment	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000505	HP:0000505	Visual impairment	0	FBN2 CL E G H	2201	3604	OMIM:616118	MACULAR DEGENERATION, EARLY-ONSET; EOMD			655
HP:0000505	HP:0000505	Visual impairment	0	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000505	HP:0000505	Visual impairment	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0000505	HP:0000505	Visual impairment	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000505	HP:0000505	Visual impairment	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	HP:0040284 - Very rare
HP:0000505	HP:0000505	Visual impairment	0	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy	.
HP:0000505	HP:0000505	Visual impairment	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		2
HP:0000505	HP:0000505	Visual impairment	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47			3
HP:0000505	HP:0000505	Visual impairment	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		3
HP:0000505	HP:0000505	Visual impairment	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0000505	HP:0000505	Visual impairment	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		17
HP:0000505	HP:0000505	Visual impairment	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0000505	HP:0000505	Visual impairment	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0000505	HP:0000505	Visual impairment	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0000505	HP:0000505	Visual impairment	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		172
HP:0000505	HP:0000505	Visual impairment	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0000505	HP:0000505	Visual impairment	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0000505	HP:0000505	Visual impairment	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent		172
HP:0000505	HP:0000505	Visual impairment	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional		175
HP:0000505	HP:0000505	Visual impairment	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000505	HP:0000505	Visual impairment	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.		175
HP:0000505	HP:0000505	Visual impairment	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0000505	HP:0000505	Visual impairment	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0000505	HP:0000505	Visual impairment	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000505	HP:0000505	Visual impairment	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040283 - Occasional		145
HP:0000505	HP:0000505	Visual impairment	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000505	HP:0000505	Visual impairment	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000505	HP:0000505	Visual impairment	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.		301
HP:0000505	HP:0000505	Visual impairment	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional		111
HP:0000505	HP:0000505	Visual impairment	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0000505	HP:0000505	Visual impairment	0	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		157
HP:0000505	HP:0000505	Visual impairment	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000505	HP:0000505	Visual impairment	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040283 - Occasional		184
HP:0000505	HP:0000505	Visual impairment	0	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		184
HP:0000505	HP:0000505	Visual impairment	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000505	HP:0000505	Visual impairment	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0000505	HP:0000505	Visual impairment	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000505	HP:0000505	Visual impairment	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0000505	HP:0000505	Visual impairment	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0000505	HP:0000505	Visual impairment	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		9
HP:0000505	HP:0000505	Visual impairment	0	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia			63
HP:0000505	HP:0000505	Visual impairment	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2			23
HP:0000505	HP:0000505	Visual impairment	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0000505	HP:0000505	Visual impairment	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0000505	HP:0000505	Visual impairment	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0000505	HP:0000505	Visual impairment	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0000505	HP:0000505	Visual impairment	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0000505	HP:0000505	Visual impairment	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		184
HP:0000505	HP:0000505	Visual impairment	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0000505	HP:0000505	Visual impairment	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0000505	HP:0000505	Visual impairment	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000505	HP:0000505	Visual impairment	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000505	HP:0000505	Visual impairment	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000505	HP:0000505	Visual impairment	0	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked			38
HP:0000505	HP:0000505	Visual impairment	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0000505	HP:0000505	Visual impairment	0	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30			26
HP:0000505	HP:0000505	Visual impairment	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0000505	HP:0000505	Visual impairment	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	HP:0040283 - Occasional		18
HP:0000505	HP:0000505	Visual impairment	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1			109
HP:0000505	HP:0000505	Visual impairment	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0000505	HP:0000505	Visual impairment	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000505	HP:0000505	Visual impairment	0	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity			109
HP:0000505	HP:0000505	Visual impairment	0	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0000505	HP:0000505	Visual impairment	0	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45			3
HP:0000505	HP:0000505	Visual impairment	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0000505	HP:0000505	Visual impairment	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0000505	HP:0000505	Visual impairment	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0000505	HP:0000505	Visual impairment	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0000505	HP:0000505	Visual impairment	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0000505	HP:0000505	Visual impairment	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional		160
HP:0000505	HP:0000505	Visual impairment	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0000505	HP:0000505	Visual impairment	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0000505	HP:0000505	Visual impairment	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0000505	HP:0000505	Visual impairment	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0000505	HP:0000505	Visual impairment	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0000505	HP:0000505	Visual impairment	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0000505	HP:0000505	Visual impairment	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0000505	HP:0000505	Visual impairment	0	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6			7
HP:0000505	HP:0000505	Visual impairment	0	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis			64
HP:0000505	HP:0000505	Visual impairment	0	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17			64
HP:0000505	HP:0000505	Visual impairment	0	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6			64
HP:0000505	HP:0000505	Visual impairment	0	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional		68
HP:0000505	HP:0000505	Visual impairment	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0000505	HP:0000505	Visual impairment	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0000505	HP:0000505	Visual impairment	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		199
HP:0000505	HP:0000505	Visual impairment	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		56
HP:0000505	HP:0000505	Visual impairment	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0000505	HP:0000505	Visual impairment	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0000505	HP:0000505	Visual impairment	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0000505	HP:0000505	Visual impairment	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0000505	HP:0000505	Visual impairment	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0000505	HP:0000505	Visual impairment	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent		17
HP:0000505	HP:0000505	Visual impairment	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia	.		17
HP:0000505	HP:0000505	Visual impairment	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0000505	HP:0000505	Visual impairment	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0000505	HP:0000505	Visual impairment	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040282 - Frequent		24
HP:0000505	HP:0000505	Visual impairment	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0000505	HP:0000505	Visual impairment	0	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		34
HP:0000505	HP:0000505	Visual impairment	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma			16
HP:0000505	HP:0000505	Visual impairment	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0000505	HP:0000505	Visual impairment	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma			7
HP:0000505	HP:0000505	Visual impairment	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0000505	HP:0000505	Visual impairment	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0000505	HP:0000505	Visual impairment	0	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0000505	HP:0000505	Visual impairment	0	GNAT1 CL E G H	2779	4393	OMIM:610444	Night blindness, congenital stationary, autosomal dominant 3			39
HP:0000505	HP:0000505	Visual impairment	0	GNAT1 CL E G H	2779	4393	OMIM:616389	Night blindness, congenital stationary, type 1G			39
HP:0000505	HP:0000505	Visual impairment	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0000505	HP:0000505	Visual impairment	0	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4			19
HP:0000505	HP:0000505	Visual impairment	0	GNAT2 CL E G H	2780	4394	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		19
HP:0000505	HP:0000505	Visual impairment	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0000505	HP:0000505	Visual impairment	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000505	HP:0000505	Visual impairment	0	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0000505	HP:0000505	Visual impairment	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000505	HP:0000505	Visual impairment	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0000505	HP:0000505	Visual impairment	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0000505	HP:0000505	Visual impairment	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000505	HP:0000505	Visual impairment	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040284 - Very rare
HP:0000505	HP:0000505	Visual impairment	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0000505	HP:0000505	Visual impairment	0	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I	.		64
HP:0000505	HP:0000505	Visual impairment	0	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked			64
HP:0000505	HP:0000505	Visual impairment	0	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040283 - Occasional		64
HP:0000505	HP:0000505	Visual impairment	0	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0000505	HP:0000505	Visual impairment	0	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E	.		124
HP:0000505	HP:0000505	Visual impairment	0	GRHL2 CL E G H	79977	2799	OMIM:618031	Corneal dystrophy, posterior polymorphous, 4			33
HP:0000505	HP:0000505	Visual impairment	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0000505	HP:0000505	Visual impairment	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000505	HP:0000505	Visual impairment	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0000505	HP:0000505	Visual impairment	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant			108
HP:0000505	HP:0000505	Visual impairment	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0000505	HP:0000505	Visual impairment	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000505	HP:0000505	Visual impairment	0	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0000505	HP:0000505	Visual impairment	0	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease	HP:0040284 - Very rare		4
HP:0000505	HP:0000505	Visual impairment	0	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0000505	HP:0000505	Visual impairment	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0000505	HP:0000505	Visual impairment	0	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11	.		126
HP:0000505	HP:0000505	Visual impairment	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040282 - Frequent		53
HP:0000505	HP:0000505	Visual impairment	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000505	HP:0000505	Visual impairment	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000505	HP:0000505	Visual impairment	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000505	HP:0000505	Visual impairment	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0000505	HP:0000505	Visual impairment	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional		30
HP:0000505	HP:0000505	Visual impairment	0	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23	HP:0040283 - Occasional		30
HP:0000505	HP:0000505	Visual impairment	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		24
HP:0000505	HP:0000505	Visual impairment	0	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3			24
HP:0000505	HP:0000505	Visual impairment	0	GUCA1A CL E G H	2978	4678	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		24
HP:0000505	HP:0000505	Visual impairment	0	GUCA1A CL E G H	2978	4678	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		24
HP:0000505	HP:0000505	Visual impairment	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0000505	HP:0000505	Visual impairment	0	GUCA1B CL E G H	2979	4679	OMIM:613827	RETINITIS PIGMENTOSA 48; RP48			36
HP:0000505	HP:0000505	Visual impairment	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		124
HP:0000505	HP:0000505	Visual impairment	0	GUCY2D CL E G H	3000	4689	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		124
HP:0000505	HP:0000505	Visual impairment	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000505	HP:0000505	Visual impairment	0	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis			124
HP:0000505	HP:0000505	Visual impairment	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0000505	HP:0000505	Visual impairment	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0000505	HP:0000505	Visual impairment	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0000505	HP:0000505	Visual impairment	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000505	HP:0000505	Visual impairment	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000505	HP:0000505	Visual impairment	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000505	HP:0000505	Visual impairment	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0000505	HP:0000505	Visual impairment	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000505	HP:0000505	Visual impairment	0	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB	.
HP:0000505	HP:0000505	Visual impairment	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0000505	HP:0000505	Visual impairment	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0000505	HP:0000505	Visual impairment	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0000505	HP:0000505	Visual impairment	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		21
HP:0000505	HP:0000505	Visual impairment	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent		21
HP:0000505	HP:0000505	Visual impairment	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0000505	HP:0000505	Visual impairment	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0000505	HP:0000505	Visual impairment	0	HGSNAT CL E G H	138050	26527	OMIM:616544	Retinitis pigmentosa 73			86
HP:0000505	HP:0000505	Visual impairment	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	HP:0040283 - Occasional		3
HP:0000505	HP:0000505	Visual impairment	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000505	HP:0000505	Visual impairment	0	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79			11
HP:0000505	HP:0000505	Visual impairment	0	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92			2
HP:0000505	HP:0000505	Visual impairment	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0000505	HP:0000505	Visual impairment	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0000505	HP:0000505	Visual impairment	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		4
HP:0000505	HP:0000505	Visual impairment	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		4
HP:0000505	HP:0000505	Visual impairment	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		1
HP:0000505	HP:0000505	Visual impairment	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0000505	HP:0000505	Visual impairment	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		2
HP:0000505	HP:0000505	Visual impairment	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0000505	HP:0000505	Visual impairment	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1			262
HP:0000505	HP:0000505	Visual impairment	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000505	HP:0000505	Visual impairment	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000505	HP:0000505	Visual impairment	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0000505	HP:0000505	Visual impairment	0	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000505	HP:0000505	Visual impairment	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0000505	HP:0000505	Visual impairment	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0000505	HP:0000505	Visual impairment	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0000505	HP:0000505	Visual impairment	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		8
HP:0000505	HP:0000505	Visual impairment	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0000505	HP:0000505	Visual impairment	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0000505	HP:0000505	Visual impairment	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000505	HP:0000505	Visual impairment	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0000505	HP:0000505	Visual impairment	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent		345
HP:0000505	HP:0000505	Visual impairment	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent		16
HP:0000505	HP:0000505	Visual impairment	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0000505	HP:0000505	Visual impairment	0	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.		16
HP:0000505	HP:0000505	Visual impairment	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000505	HP:0000505	Visual impairment	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0000505	HP:0000505	Visual impairment	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000505	HP:0000505	Visual impairment	0	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0000505	HP:0000505	Visual impairment	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent		86
HP:0000505	HP:0000505	Visual impairment	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent		86
HP:0000505	HP:0000505	Visual impairment	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0000505	HP:0000505	Visual impairment	0	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis			148
HP:0000505	HP:0000505	Visual impairment	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0000505	HP:0000505	Visual impairment	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0000505	HP:0000505	Visual impairment	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000505	HP:0000505	Visual impairment	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0000505	HP:0000505	Visual impairment	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000505	HP:0000505	Visual impairment	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0000505	HP:0000505	Visual impairment	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000505	HP:0000505	Visual impairment	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000505	HP:0000505	Visual impairment	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		7
HP:0000505	HP:0000505	Visual impairment	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent		52
HP:0000505	HP:0000505	Visual impairment	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		8
HP:0000505	HP:0000505	Visual impairment	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0000505	HP:0000505	Visual impairment	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0000505	HP:0000505	Visual impairment	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0000505	HP:0000505	Visual impairment	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000505	HP:0000505	Visual impairment	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0000505	HP:0000505	Visual impairment	0	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			65
HP:0000505	HP:0000505	Visual impairment	0	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0000505	HP:0000505	Visual impairment	0	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis			52
HP:0000505	HP:0000505	Visual impairment	0	IMPDH1 CL E G H	3614	6052	OMIM:613837	Leber congenital amaurosis 11			52
HP:0000505	HP:0000505	Visual impairment	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0000505	HP:0000505	Visual impairment	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10			52
HP:0000505	HP:0000505	Visual impairment	0	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent		4
HP:0000505	HP:0000505	Visual impairment	0	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4			4
HP:0000505	HP:0000505	Visual impairment	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000505	HP:0000505	Visual impairment	0	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent		120
HP:0000505	HP:0000505	Visual impairment	0	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5			120
HP:0000505	HP:0000505	Visual impairment	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0000505	HP:0000505	Visual impairment	0	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56			120
HP:0000505	HP:0000505	Visual impairment	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		111
HP:0000505	HP:0000505	Visual impairment	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0000505	HP:0000505	Visual impairment	0	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	.		111
HP:0000505	HP:0000505	Visual impairment	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040281 - Very frequent		111
HP:0000505	HP:0000505	Visual impairment	0	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		106
HP:0000505	HP:0000505	Visual impairment	0	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis			61
HP:0000505	HP:0000505	Visual impairment	0	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		61
HP:0000505	HP:0000505	Visual impairment	0	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0000505	HP:0000505	Visual impairment	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.		7
HP:0000505	HP:0000505	Visual impairment	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0000505	HP:0000505	Visual impairment	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0000505	HP:0000505	Visual impairment	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0000505	HP:0000505	Visual impairment	0	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities			3
HP:0000505	HP:0000505	Visual impairment	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.		177
HP:0000505	HP:0000505	Visual impairment	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0000505	HP:0000505	Visual impairment	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent		283
HP:0000505	HP:0000505	Visual impairment	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent		283
HP:0000505	HP:0000505	Visual impairment	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000505	HP:0000505	Visual impairment	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000505	HP:0000505	Visual impairment	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0000505	HP:0000505	Visual impairment	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0000505	HP:0000505	Visual impairment	0	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis			42
HP:0000505	HP:0000505	Visual impairment	0	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16	.		42
HP:0000505	HP:0000505	Visual impairment	0	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000505	HP:0000505	Visual impairment	0	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B			73
HP:0000505	HP:0000505	Visual impairment	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0000505	HP:0000505	Visual impairment	0	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2			8
HP:0000505	HP:0000505	Visual impairment	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000505	HP:0000505	Visual impairment	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000505	HP:0000505	Visual impairment	0	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0000505	HP:0000505	Visual impairment	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000505	HP:0000505	Visual impairment	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000505	HP:0000505	Visual impairment	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0000505	HP:0000505	Visual impairment	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0000505	HP:0000505	Visual impairment	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0000505	HP:0000505	Visual impairment	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0000505	HP:0000505	Visual impairment	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0000505	HP:0000505	Visual impairment	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0000505	HP:0000505	Visual impairment	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal			93
HP:0000505	HP:0000505	Visual impairment	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000505	HP:0000505	Visual impairment	0	KIZ CL E G H	55857	15865	OMIM:615780	Retinitis pigmentosa 69			3
HP:0000505	HP:0000505	Visual impairment	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0000505	HP:0000505	Visual impairment	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0000505	HP:0000505	Visual impairment	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000505	HP:0000505	Visual impairment	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0000505	HP:0000505	Visual impairment	0	KRT12 CL E G H	3859	6414	OMIM:122100	Meesmann corneal dystrophy 1			22
HP:0000505	HP:0000505	Visual impairment	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0000505	HP:0000505	Visual impairment	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0000505	HP:0000505	Visual impairment	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000505	HP:0000505	Visual impairment	0	LAMC3 CL E G H	10319	6494	OMIM:614115	Cortical malformations, occipital			114
HP:0000505	HP:0000505	Visual impairment	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.		211
HP:0000505	HP:0000505	Visual impairment	0	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		136
HP:0000505	HP:0000505	Visual impairment	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000505	HP:0000505	Visual impairment	0	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis			70
HP:0000505	HP:0000505	Visual impairment	0	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5			70
HP:0000505	HP:0000505	Visual impairment	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		70
HP:0000505	HP:0000505	Visual impairment	0	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease	HP:0040283 - Occasional		26
HP:0000505	HP:0000505	Visual impairment	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional		68
HP:0000505	HP:0000505	Visual impairment	0	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000505	HP:0000505	Visual impairment	0	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types			16
HP:0000505	HP:0000505	Visual impairment	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000505	HP:0000505	Visual impairment	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0000505	HP:0000505	Visual impairment	0	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal	.
HP:0000505	HP:0000505	Visual impairment	0	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type
HP:0000505	HP:0000505	Visual impairment	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0000505	HP:0000505	Visual impairment	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0000505	HP:0000505	Visual impairment	0	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis			62
HP:0000505	HP:0000505	Visual impairment	0	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14			62
HP:0000505	HP:0000505	Visual impairment	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0000505	HP:0000505	Visual impairment	0	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa			62
HP:0000505	HP:0000505	Visual impairment	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		62
HP:0000505	HP:0000505	Visual impairment	0	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0000505	HP:0000505	Visual impairment	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000505	HP:0000505	Visual impairment	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000505	HP:0000505	Visual impairment	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1			125
HP:0000505	HP:0000505	Visual impairment	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0000505	HP:0000505	Visual impairment	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0000505	HP:0000505	Visual impairment	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0000505	HP:0000505	Visual impairment	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0000505	HP:0000505	Visual impairment	0	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0040283 - Occasional		125
HP:0000505	HP:0000505	Visual impairment	0	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity			125
HP:0000505	HP:0000505	Visual impairment	0	LRPAP1 CL E G H	4043	6701	OMIM:615431	Myopia 23, autosomal recessive			4
HP:0000505	HP:0000505	Visual impairment	0	LSS CL E G H	4047	6708	OMIM:616509	Cataract 44			2
HP:0000505	HP:0000505	Visual impairment	0	LTBP2 CL E G H	4053	6715	ORPHA:98976	Congenital glaucoma			123
HP:0000505	HP:0000505	Visual impairment	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0000505	HP:0000505	Visual impairment	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0000505	HP:0000505	Visual impairment	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0000505	HP:0000505	Visual impairment	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000505	HP:0000505	Visual impairment	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0000505	HP:0000505	Visual impairment	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000505	HP:0000505	Visual impairment	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0000505	HP:0000505	Visual impairment	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			2
HP:0000505	HP:0000505	Visual impairment	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0000505	HP:0000505	Visual impairment	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0000505	HP:0000505	Visual impairment	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000505	HP:0000505	Visual impairment	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0000505	HP:0000505	Visual impairment	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0000505	HP:0000505	Visual impairment	0	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62			53
HP:0000505	HP:0000505	Visual impairment	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		6
HP:0000505	HP:0000505	Visual impairment	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0000505	HP:0000505	Visual impairment	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000505	HP:0000505	Visual impairment	0	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3			1
HP:0000505	HP:0000505	Visual impairment	0	MARK3 CL E G H	4140	6897	OMIM:618283	Visual impairment and progressive phthisis bulbi
HP:0000505	HP:0000505	Visual impairment	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000505	HP:0000505	Visual impairment	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.		124
HP:0000505	HP:0000505	Visual impairment	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0000505	HP:0000505	Visual impairment	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0000505	HP:0000505	Visual impairment	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.		6
HP:0000505	HP:0000505	Visual impairment	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0000505	HP:0000505	Visual impairment	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000505	HP:0000505	Visual impairment	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0000505	HP:0000505	Visual impairment	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000505	HP:0000505	Visual impairment	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0000505	HP:0000505	Visual impairment	0	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38			75
HP:0000505	HP:0000505	Visual impairment	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000505	HP:0000505	Visual impairment	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.		17
HP:0000505	HP:0000505	Visual impairment	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		17
HP:0000505	HP:0000505	Visual impairment	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000505	HP:0000505	Visual impairment	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.		26
HP:0000505	HP:0000505	Visual impairment	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7			120
HP:0000505	HP:0000505	Visual impairment	0	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement	.		120
HP:0000505	HP:0000505	Visual impairment	0	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040281 - Very frequent
HP:0000505	HP:0000505	Visual impairment	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000505	HP:0000505	Visual impairment	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0000505	HP:0000505	Visual impairment	0	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome	.		1
HP:0000505	HP:0000505	Visual impairment	0	MIR204 CL E G H	406987	31582	OMIM:616722	Retinal dystrophy and iris coloboma with or without congenital cataract			1
HP:0000505	HP:0000505	Visual impairment	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0000505	HP:0000505	Visual impairment	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0000505	HP:0000505	Visual impairment	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0000505	HP:0000505	Visual impairment	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000505	HP:0000505	Visual impairment	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000505	HP:0000505	Visual impairment	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040282 - Frequent		101
HP:0000505	HP:0000505	Visual impairment	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0000505	HP:0000505	Visual impairment	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0000505	HP:0000505	Visual impairment	0	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies			2
HP:0000505	HP:0000505	Visual impairment	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0000505	HP:0000505	Visual impairment	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0000505	HP:0000505	Visual impairment	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0000505	HP:0000505	Visual impairment	0	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2			45
HP:0000505	HP:0000505	Visual impairment	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional		29
HP:0000505	HP:0000505	Visual impairment	0	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
HP:0000505	HP:0000505	Visual impairment	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly			68
HP:0000505	HP:0000505	Visual impairment	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0000505	HP:0000505	Visual impairment	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0000505	HP:0000505	Visual impairment	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040281 - Very frequent
HP:0000505	HP:0000505	Visual impairment	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0000505	HP:0000505	Visual impairment	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0000505	HP:0000505	Visual impairment	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0000505	HP:0000505	Visual impairment	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional		88
HP:0000505	HP:0000505	Visual impairment	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0000505	HP:0000505	Visual impairment	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000505	HP:0000505	Visual impairment	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000505	HP:0000505	Visual impairment	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0000505	HP:0000505	Visual impairment	0	MYOC CL E G H	4653	7610	ORPHA:98976	Congenital glaucoma			47
HP:0000505	HP:0000505	Visual impairment	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		47
HP:0000505	HP:0000505	Visual impairment	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		23
HP:0000505	HP:0000505	Visual impairment	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000505	HP:0000505	Visual impairment	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency			14
HP:0000505	HP:0000505	Visual impairment	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0000505	HP:0000505	Visual impairment	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0000505	HP:0000505	Visual impairment	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0000505	HP:0000505	Visual impairment	0	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0000505	HP:0000505	Visual impairment	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0000505	HP:0000505	Visual impairment	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0000505	HP:0000505	Visual impairment	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0000505	HP:0000505	Visual impairment	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0000505	HP:0000505	Visual impairment	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0000505	HP:0000505	Visual impairment	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000505	Visual impairment	0	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000505	Visual impairment	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0000505	HP:0000505	Visual impairment	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0000505	HP:0000505	Visual impairment	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000505	Visual impairment	0	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000505	Visual impairment	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0000505	HP:0000505	Visual impairment	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000505	Visual impairment	0	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000505	Visual impairment	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0000505	HP:0000505	Visual impairment	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000505	Visual impairment	0	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000505	Visual impairment	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000505	Visual impairment	0	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000505	Visual impairment	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0000505	HP:0000505	Visual impairment	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000505	Visual impairment	0	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000505	Visual impairment	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0000505	HP:0000505	Visual impairment	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000505	HP:0000505	Visual impairment	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked			39
HP:0000505	HP:0000505	Visual impairment	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000505	HP:0000505	Visual impairment	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000505	HP:0000505	Visual impairment	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000505	HP:0000505	Visual impairment	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000505	HP:0000505	Visual impairment	0	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity			39
HP:0000505	HP:0000505	Visual impairment	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0000505	HP:0000505	Visual impairment	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0000505	HP:0000505	Visual impairment	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0000505	HP:0000505	Visual impairment	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0000505	HP:0000505	Visual impairment	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0000505	HP:0000505	Visual impairment	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0000505	HP:0000505	Visual impairment	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		31
HP:0000505	HP:0000505	Visual impairment	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0000505	HP:0000505	Visual impairment	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0000505	HP:0000505	Visual impairment	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0000505	HP:0000505	Visual impairment	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0000505	HP:0000505	Visual impairment	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0000505	HP:0000505	Visual impairment	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0000505	HP:0000505	Visual impairment	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0000505	HP:0000505	Visual impairment	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0000505	HP:0000505	Visual impairment	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0000505	HP:0000505	Visual impairment	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0000505	HP:0000505	Visual impairment	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy			65
HP:0000505	HP:0000505	Visual impairment	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		65
HP:0000505	HP:0000505	Visual impairment	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0000505	HP:0000505	Visual impairment	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0000505	HP:0000505	Visual impairment	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0000505	HP:0000505	Visual impairment	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0000505	HP:0000505	Visual impairment	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0000505	HP:0000505	Visual impairment	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0000505	HP:0000505	Visual impairment	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0000505	HP:0000505	Visual impairment	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0000505	HP:0000505	Visual impairment	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0000505	HP:0000505	Visual impairment	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000505	HP:0000505	Visual impairment	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0000505	HP:0000505	Visual impairment	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0000505	HP:0000505	Visual impairment	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0000505	HP:0000505	Visual impairment	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0000505	HP:0000505	Visual impairment	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0000505	HP:0000505	Visual impairment	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000505	HP:0000505	Visual impairment	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000505	HP:0000505	Visual impairment	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0000505	HP:0000505	Visual impairment	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000505	HP:0000505	Visual impairment	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora			77
HP:0000505	HP:0000505	Visual impairment	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0000505	HP:0000505	Visual impairment	0	NHS CL E G H	4810	7820	OMIM:302200	Cataract, congenital total, with posterior sutural opacities in heterozygotes			88
HP:0000505	HP:0000505	Visual impairment	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome			88
HP:0000505	HP:0000505	Visual impairment	0	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040281 - Very frequent		88
HP:0000505	HP:0000505	Visual impairment	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent		217
HP:0000505	HP:0000505	Visual impairment	0	NMNAT1 CL E G H	64802	17877	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		15
HP:0000505	HP:0000505	Visual impairment	0	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis			15
HP:0000505	HP:0000505	Visual impairment	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000505	HP:0000505	Visual impairment	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000505	HP:0000505	Visual impairment	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0000505	HP:0000505	Visual impairment	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0000505	HP:0000505	Visual impairment	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0000505	HP:0000505	Visual impairment	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0000505	HP:0000505	Visual impairment	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0000505	HP:0000505	Visual impairment	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000505	HP:0000505	Visual impairment	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0000505	HP:0000505	Visual impairment	0	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		85
HP:0000505	HP:0000505	Visual impairment	0	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		157
HP:0000505	HP:0000505	Visual impairment	0	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		220
HP:0000505	HP:0000505	Visual impairment	0	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4			220
HP:0000505	HP:0000505	Visual impairment	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0000505	HP:0000505	Visual impairment	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0000505	HP:0000505	Visual impairment	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000505	HP:0000505	Visual impairment	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040283 - Occasional		79
HP:0000505	HP:0000505	Visual impairment	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000505	HP:0000505	Visual impairment	0	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.		30
HP:0000505	HP:0000505	Visual impairment	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0000505	HP:0000505	Visual impairment	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0000505	HP:0000505	Visual impairment	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0000505	HP:0000505	Visual impairment	0	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA	.		1
HP:0000505	HP:0000505	Visual impairment	0	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0000505	HP:0000505	Visual impairment	0	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000505	HP:0000505	Visual impairment	0	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency			94
HP:0000505	HP:0000505	Visual impairment	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.		121
HP:0000505	HP:0000505	Visual impairment	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0000505	HP:0000505	Visual impairment	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0000505	HP:0000505	Visual impairment	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000505	HP:0000505	Visual impairment	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0000505	HP:0000505	Visual impairment	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000505	HP:0000505	Visual impairment	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0000505	HP:0000505	Visual impairment	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000505	HP:0000505	Visual impairment	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000505	HP:0000505	Visual impairment	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040281 - Very frequent		214
HP:0000505	HP:0000505	Visual impairment	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0000505	HP:0000505	Visual impairment	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.		214
HP:0000505	HP:0000505	Visual impairment	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000505	HP:0000505	Visual impairment	0	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040281 - Very frequent		163
HP:0000505	HP:0000505	Visual impairment	0	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III	.		163
HP:0000505	HP:0000505	Visual impairment	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040280 - Obligate		163
HP:0000505	HP:0000505	Visual impairment	0	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3			163
HP:0000505	HP:0000505	Visual impairment	0	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	.		7
HP:0000505	HP:0000505	Visual impairment	0	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism	HP:0040283 - Occasional		7
HP:0000505	HP:0000505	Visual impairment	0	OPN1LW CL E G H	5956	9936	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		7
HP:0000505	HP:0000505	Visual impairment	0	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	.		5
HP:0000505	HP:0000505	Visual impairment	0	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism	HP:0040283 - Occasional		5
HP:0000505	HP:0000505	Visual impairment	0	OPN1MW CL E G H	2652	4206	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		5
HP:0000505	HP:0000505	Visual impairment	0	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia			3
HP:0000505	HP:0000505	Visual impairment	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0000505	HP:0000505	Visual impairment	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0000505	HP:0000505	Visual impairment	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent		41
HP:0000505	HP:0000505	Visual impairment	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0000505	HP:0000505	Visual impairment	0	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration			5
HP:0000505	HP:0000505	Visual impairment	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		3
HP:0000505	HP:0000505	Visual impairment	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000505	HP:0000505	Visual impairment	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0000505	HP:0000505	Visual impairment	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0000505	HP:0000505	Visual impairment	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration			55
HP:0000505	HP:0000505	Visual impairment	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0000505	HP:0000505	Visual impairment	0	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0000505	HP:0000505	Visual impairment	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0000505	HP:0000505	Visual impairment	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000505	HP:0000505	Visual impairment	0	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome	HP:0040282 - Frequent		39
HP:0000505	HP:0000505	Visual impairment	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes			194
HP:0000505	HP:0000505	Visual impairment	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis			194
HP:0000505	HP:0000505	Visual impairment	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0000505	HP:0000505	Visual impairment	0	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included	.		194
HP:0000505	HP:0000505	Visual impairment	0	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia			194
HP:0000505	HP:0000505	Visual impairment	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia			194
HP:0000505	HP:0000505	Visual impairment	0	PAX6 CL E G H	5080	8620	ORPHA:35737	Morning glory disc anomaly			194
HP:0000505	HP:0000505	Visual impairment	0	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL			194
HP:0000505	HP:0000505	Visual impairment	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		194
HP:0000505	HP:0000505	Visual impairment	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000505	HP:0000505	Visual impairment	0	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54
HP:0000505	HP:0000505	Visual impairment	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0000505	HP:0000505	Visual impairment	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000505	HP:0000505	Visual impairment	0	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis			11
HP:0000505	HP:0000505	Visual impairment	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0000505	HP:0000505	Visual impairment	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent		11
HP:0000505	HP:0000505	Visual impairment	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0000505	HP:0000505	Visual impairment	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional		113
HP:0000505	HP:0000505	Visual impairment	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0000505	HP:0000505	Visual impairment	0	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0000505	HP:0000505	Visual impairment	0	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0000505	HP:0000505	Visual impairment	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0000505	HP:0000505	Visual impairment	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0000505	HP:0000505	Visual impairment	0	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4	.		80
HP:0000505	HP:0000505	Visual impairment	0	PDE6C CL E G H	5146	8787	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		80
HP:0000505	HP:0000505	Visual impairment	0	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa			18
HP:0000505	HP:0000505	Visual impairment	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0000505	HP:0000505	Visual impairment	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0000505	HP:0000505	Visual impairment	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0000505	HP:0000505	Visual impairment	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0000505	HP:0000505	Visual impairment	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000505	HP:0000505	Visual impairment	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0000505	HP:0000505	Visual impairment	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3			54
HP:0000505	HP:0000505	Visual impairment	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0000505	HP:0000505	Visual impairment	0	PDXK CL E G H	8566	8819	OMIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy	.
HP:0000505	HP:0000505	Visual impairment	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000505	HP:0000505	Visual impairment	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000505	HP:0000505	Visual impairment	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent		66
HP:0000505	HP:0000505	Visual impairment	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000505	HP:0000505	Visual impairment	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		169
HP:0000505	HP:0000505	Visual impairment	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		169
HP:0000505	HP:0000505	Visual impairment	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		169
HP:0000505	HP:0000505	Visual impairment	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		75
HP:0000505	HP:0000505	Visual impairment	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		75
HP:0000505	HP:0000505	Visual impairment	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.		75
HP:0000505	HP:0000505	Visual impairment	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		75
HP:0000505	HP:0000505	Visual impairment	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		4
HP:0000505	HP:0000505	Visual impairment	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		4
HP:0000505	HP:0000505	Visual impairment	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		4
HP:0000505	HP:0000505	Visual impairment	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		65
HP:0000505	HP:0000505	Visual impairment	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		65
HP:0000505	HP:0000505	Visual impairment	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		65
HP:0000505	HP:0000505	Visual impairment	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		66
HP:0000505	HP:0000505	Visual impairment	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		66
HP:0000505	HP:0000505	Visual impairment	0	PEX13 CL E G H	5194	8855	OMIM:614885	Peroxisome biogenesis disorder 11B			66
HP:0000505	HP:0000505	Visual impairment	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		66
HP:0000505	HP:0000505	Visual impairment	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		46
HP:0000505	HP:0000505	Visual impairment	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		46
HP:0000505	HP:0000505	Visual impairment	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		46
HP:0000505	HP:0000505	Visual impairment	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		59
HP:0000505	HP:0000505	Visual impairment	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		59
HP:0000505	HP:0000505	Visual impairment	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.		59
HP:0000505	HP:0000505	Visual impairment	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		59
HP:0000505	HP:0000505	Visual impairment	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		62
HP:0000505	HP:0000505	Visual impairment	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		62
HP:0000505	HP:0000505	Visual impairment	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		62
HP:0000505	HP:0000505	Visual impairment	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		82
HP:0000505	HP:0000505	Visual impairment	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		82
HP:0000505	HP:0000505	Visual impairment	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.		82
HP:0000505	HP:0000505	Visual impairment	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		82
HP:0000505	HP:0000505	Visual impairment	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		106
HP:0000505	HP:0000505	Visual impairment	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		106
HP:0000505	HP:0000505	Visual impairment	0	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B	.		106
HP:0000505	HP:0000505	Visual impairment	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		106
HP:0000505	HP:0000505	Visual impairment	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		47
HP:0000505	HP:0000505	Visual impairment	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		47
HP:0000505	HP:0000505	Visual impairment	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		47
HP:0000505	HP:0000505	Visual impairment	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		99
HP:0000505	HP:0000505	Visual impairment	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		99
HP:0000505	HP:0000505	Visual impairment	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		99
HP:0000505	HP:0000505	Visual impairment	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0000505	HP:0000505	Visual impairment	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		98
HP:0000505	HP:0000505	Visual impairment	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		98
HP:0000505	HP:0000505	Visual impairment	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.		98
HP:0000505	HP:0000505	Visual impairment	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		98
HP:0000505	HP:0000505	Visual impairment	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040282 - Frequent		72
HP:0000505	HP:0000505	Visual impairment	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000505	HP:0000505	Visual impairment	0	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0000505	HP:0000505	Visual impairment	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0000505	HP:0000505	Visual impairment	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0000505	HP:0000505	Visual impairment	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0000505	HP:0000505	Visual impairment	0	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2	.		6
HP:0000505	HP:0000505	Visual impairment	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040282 - Frequent		45
HP:0000505	HP:0000505	Visual impairment	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0000505	HP:0000505	Visual impairment	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent		77
HP:0000505	HP:0000505	Visual impairment	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0000505	HP:0000505	Visual impairment	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0000505	HP:0000505	Visual impairment	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000505	HP:0000505	Visual impairment	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000505	HP:0000505	Visual impairment	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000505	HP:0000505	Visual impairment	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0000505	HP:0000505	Visual impairment	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000505	HP:0000505	Visual impairment	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000505	HP:0000505	Visual impairment	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000505	HP:0000505	Visual impairment	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0000505	HP:0000505	Visual impairment	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000505	HP:0000505	Visual impairment	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0000505	HP:0000505	Visual impairment	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly			162
HP:0000505	HP:0000505	Visual impairment	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0000505	HP:0000505	Visual impairment	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000505	HP:0000505	Visual impairment	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0000505	HP:0000505	Visual impairment	0	PITPNM3 CL E G H	83394	21043	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		135
HP:0000505	HP:0000505	Visual impairment	0	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5			135
HP:0000505	HP:0000505	Visual impairment	0	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea			51
HP:0000505	HP:0000505	Visual impairment	0	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types			6
HP:0000505	HP:0000505	Visual impairment	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0000505	HP:0000505	Visual impairment	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0000505	HP:0000505	Visual impairment	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0000505	HP:0000505	Visual impairment	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare		2
HP:0000505	HP:0000505	Visual impairment	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included			11
HP:0000505	HP:0000505	Visual impairment	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		11
HP:0000505	HP:0000505	Visual impairment	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	.		11
HP:0000505	HP:0000505	Visual impairment	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0000505	HP:0000505	Visual impairment	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0000505	HP:0000505	Visual impairment	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0000505	HP:0000505	Visual impairment	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0000505	HP:0000505	Visual impairment	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0000505	HP:0000505	Visual impairment	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.		60
HP:0000505	HP:0000505	Visual impairment	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0000505	HP:0000505	Visual impairment	0	POC1B CL E G H	282809	30836	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		3
HP:0000505	HP:0000505	Visual impairment	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	.		3
HP:0000505	HP:0000505	Visual impairment	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0000505	HP:0000505	Visual impairment	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000505	HP:0000505	Visual impairment	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0000505	HP:0000505	Visual impairment	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome			464
HP:0000505	HP:0000505	Visual impairment	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0000505	HP:0000505	Visual impairment	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0000505	HP:0000505	Visual impairment	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0000505	HP:0000505	Visual impairment	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	HP:0040283 - Occasional		464
HP:0000505	HP:0000505	Visual impairment	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0000505	HP:0000505	Visual impairment	0	POLG2 CL E G H	11232	9180	OMIM:619425	MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B			45
HP:0000505	HP:0000505	Visual impairment	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0000505	HP:0000505	Visual impairment	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		38
HP:0000505	HP:0000505	Visual impairment	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		31
HP:0000505	HP:0000505	Visual impairment	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000505	HP:0000505	Visual impairment	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000505	HP:0000505	Visual impairment	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0000505	HP:0000505	Visual impairment	0	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		180
HP:0000505	HP:0000505	Visual impairment	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0000505	HP:0000505	Visual impairment	0	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0000505	HP:0000505	Visual impairment	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0000505	HP:0000505	Visual impairment	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.		18
HP:0000505	HP:0000505	Visual impairment	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0000505	HP:0000505	Visual impairment	0	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		213
HP:0000505	HP:0000505	Visual impairment	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000505	HP:0000505	Visual impairment	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0000505	HP:0000505	Visual impairment	0	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		221
HP:0000505	HP:0000505	Visual impairment	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000505	HP:0000505	Visual impairment	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000505	HP:0000505	Visual impairment	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000505	HP:0000505	Visual impairment	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000505	HP:0000505	Visual impairment	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.		2
HP:0000505	HP:0000505	Visual impairment	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0000505	HP:0000505	Visual impairment	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0000505	HP:0000505	Visual impairment	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0000505	HP:0000505	Visual impairment	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0000505	HP:0000505	Visual impairment	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000505	HP:0000505	Visual impairment	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0000505	HP:0000505	Visual impairment	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0000505	HP:0000505	Visual impairment	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0000505	HP:0000505	Visual impairment	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000505	HP:0000505	Visual impairment	0	PRIMPOL CL E G H	201973	26575	OMIM:615420	Myopia 22, autosomal dominant	.		1
HP:0000505	HP:0000505	Visual impairment	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional		42
HP:0000505	HP:0000505	Visual impairment	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.		69
HP:0000505	HP:0000505	Visual impairment	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000505	HP:0000505	Visual impairment	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000505	HP:0000505	Visual impairment	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent		34
HP:0000505	HP:0000505	Visual impairment	0	PROM1 CL E G H	8842	9454	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		110
HP:0000505	HP:0000505	Visual impairment	0	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000505	HP:0000505	Visual impairment	0	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2			110
HP:0000505	HP:0000505	Visual impairment	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0000505	HP:0000505	Visual impairment	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000505	HP:0000505	Visual impairment	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease			110
HP:0000505	HP:0000505	Visual impairment	0	PROM1 CL E G H	8842	9454	OMIM:603786	Stargardt disease 4			110
HP:0000505	HP:0000505	Visual impairment	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000505	HP:0000505	Visual impairment	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive			75
HP:0000505	HP:0000505	Visual impairment	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000505	HP:0000505	Visual impairment	0	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18			28
HP:0000505	HP:0000505	Visual impairment	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0000505	HP:0000505	Visual impairment	0	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0000505	HP:0000505	Visual impairment	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000505	HP:0000505	Visual impairment	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0000505	HP:0000505	Visual impairment	0	PRPF6 CL E G H	24148	15860	OMIM:613983	Retinitis pigmentosa 60	.		51
HP:0000505	HP:0000505	Visual impairment	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0000505	HP:0000505	Visual impairment	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13			94
HP:0000505	HP:0000505	Visual impairment	0	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent		159
HP:0000505	HP:0000505	Visual impairment	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		159
HP:0000505	HP:0000505	Visual impairment	0	PRPH2 CL E G H	5961	9942	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		159
HP:0000505	HP:0000505	Visual impairment	0	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	.	HP:0003581 - Adult onset	159
HP:0000505	HP:0000505	Visual impairment	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0000505	HP:0000505	Visual impairment	0	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7			159
HP:0000505	HP:0000505	Visual impairment	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000505	HP:0000505	Visual impairment	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease			159
HP:0000505	HP:0000505	Visual impairment	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0000505	HP:0000505	Visual impairment	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0000505	HP:0000505	Visual impairment	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent		49
HP:0000505	HP:0000505	Visual impairment	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000505	HP:0000505	Visual impairment	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000505	HP:0000505	Visual impairment	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0000505	HP:0000505	Visual impairment	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0000505	HP:0000505	Visual impairment	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0000505	HP:0000505	Visual impairment	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0000505	HP:0000505	Visual impairment	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0000505	HP:0000505	Visual impairment	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000505	HP:0000505	Visual impairment	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0000505	HP:0000505	Visual impairment	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0000505	HP:0000505	Visual impairment	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0000505	HP:0000505	Visual impairment	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0000505	HP:0000505	Visual impairment	0	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0000505	HP:0000505	Visual impairment	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		3
HP:0000505	HP:0000505	Visual impairment	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		3
HP:0000505	HP:0000505	Visual impairment	0	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			3
HP:0000505	HP:0000505	Visual impairment	0	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040282 - Frequent		3
HP:0000505	HP:0000505	Visual impairment	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000505	HP:0000505	Visual impairment	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000505	HP:0000505	Visual impairment	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0000505	HP:0000505	Visual impairment	0	PXDN CL E G H	7837	14966	OMIM:269400	Corneal opacification with other ocular anomalies			22
HP:0000505	HP:0000505	Visual impairment	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000505	HP:0000505	Visual impairment	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0000505	HP:0000505	Visual impairment	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0000505	HP:0000505	Visual impairment	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0000505	HP:0000505	Visual impairment	0	RAB28 CL E G H	9364	9768	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		6
HP:0000505	HP:0000505	Visual impairment	0	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18			6
HP:0000505	HP:0000505	Visual impairment	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0000505	HP:0000505	Visual impairment	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0000505	HP:0000505	Visual impairment	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0000505	HP:0000505	Visual impairment	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0000505	HP:0000505	Visual impairment	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0000505	HP:0000505	Visual impairment	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0000505	HP:0000505	Visual impairment	0	RAX2 CL E G H	84839	18286	OMIM:620102				52
HP:0000505	HP:0000505	Visual impairment	0	RAX2 CL E G H	84839	18286	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		52
HP:0000505	HP:0000505	Visual impairment	0	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11			52
HP:0000505	HP:0000505	Visual impairment	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0000505	HP:0000505	Visual impairment	0	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa			108
HP:0000505	HP:0000505	Visual impairment	0	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66	.		108
HP:0000505	HP:0000505	Visual impairment	0	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	.		8
HP:0000505	HP:0000505	Visual impairment	0	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA			8
HP:0000505	HP:0000505	Visual impairment	0	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis			95
HP:0000505	HP:0000505	Visual impairment	0	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12			95
HP:0000505	HP:0000505	Visual impairment	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0000505	HP:0000505	Visual impairment	0	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis			45
HP:0000505	HP:0000505	Visual impairment	0	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13			45
HP:0000505	HP:0000505	Visual impairment	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000505	HP:0000505	Visual impairment	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000505	HP:0000505	Visual impairment	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000505	HP:0000505	Visual impairment	0	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77			5
HP:0000505	HP:0000505	Visual impairment	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0000505	HP:0000505	Visual impairment	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000505	HP:0000505	Visual impairment	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional		3
HP:0000505	HP:0000505	Visual impairment	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0000505	HP:0000505	Visual impairment	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040282 - Frequent		92
HP:0000505	HP:0000505	Visual impairment	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000505	HP:0000505	Visual impairment	0	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0000505	HP:0000505	Visual impairment	0	RGS9 CL E G H	8787	10004	ORPHA:75374	Bradyopsia	HP:0040281 - Very frequent		9
HP:0000505	HP:0000505	Visual impairment	0	RGS9BP CL E G H	388531	30304	ORPHA:75374	Bradyopsia	HP:0040281 - Very frequent		6
HP:0000505	HP:0000505	Visual impairment	0	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0000505	HP:0000505	Visual impairment	0	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1			107
HP:0000505	HP:0000505	Visual impairment	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0000505	HP:0000505	Visual impairment	0	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4			107
HP:0000505	HP:0000505	Visual impairment	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000505	HP:0000505	Visual impairment	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000505	HP:0000505	Visual impairment	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000505	HP:0000505	Visual impairment	0	RIMS1 CL E G H	22999	17282	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		102
HP:0000505	HP:0000505	Visual impairment	0	RIMS1 CL E G H	22999	17282	OMIM:603649	CONE-ROD DYSTROPHY 7; CORD7			102
HP:0000505	HP:0000505	Visual impairment	0	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0000505	HP:0000505	Visual impairment	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0000505	HP:0000505	Visual impairment	0	RLBP1 CL E G H	6017	10024	OMIM:607476	NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD			47
HP:0000505	HP:0000505	Visual impairment	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000505	HP:0000505	Visual impairment	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000505	HP:0000505	Visual impairment	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0000505	HP:0000505	Visual impairment	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000505	HP:0000505	Visual impairment	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0000505	HP:0000505	Visual impairment	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0000505	HP:0000505	Visual impairment	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040283 - Occasional		15
HP:0000505	HP:0000505	Visual impairment	0	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa			38
HP:0000505	HP:0000505	Visual impairment	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0000505	HP:0000505	Visual impairment	0	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7			38
HP:0000505	HP:0000505	Visual impairment	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000505	HP:0000505	Visual impairment	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0000505	HP:0000505	Visual impairment	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0000505	HP:0000505	Visual impairment	0	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0000505	HP:0000505	Visual impairment	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0000505	HP:0000505	Visual impairment	0	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0000505	HP:0000505	Visual impairment	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000505	HP:0000505	Visual impairment	0	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000505	HP:0000505	Visual impairment	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000505	HP:0000505	Visual impairment	0	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0000505	HP:0000505	Visual impairment	0	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis			129
HP:0000505	HP:0000505	Visual impairment	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0000505	HP:0000505	Visual impairment	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0000505	HP:0000505	Visual impairment	0	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20	.		129
HP:0000505	HP:0000505	Visual impairment	0	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87			129
HP:0000505	HP:0000505	Visual impairment	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		129
HP:0000505	HP:0000505	Visual impairment	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0000505	HP:0000505	Visual impairment	0	RPGR CL E G H	6103	10295	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		200
HP:0000505	HP:0000505	Visual impairment	0	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1			200
HP:0000505	HP:0000505	Visual impairment	0	RPGR CL E G H	6103	10295	OMIM:300834	MACULAR DEGENERATION, X-LINKED ATROPHIC			200
HP:0000505	HP:0000505	Visual impairment	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0000505	HP:0000505	Visual impairment	0	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000505	HP:0000505	Visual impairment	0	RPGRIP1 CL E G H	57096	13436	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		109
HP:0000505	HP:0000505	Visual impairment	0	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0000505	HP:0000505	Visual impairment	0	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis			109
HP:0000505	HP:0000505	Visual impairment	0	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0000505	HP:0000505	Visual impairment	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		167
HP:0000505	HP:0000505	Visual impairment	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0000505	HP:0000505	Visual impairment	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0000505	HP:0000505	Visual impairment	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0000505	HP:0000505	Visual impairment	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000505	HP:0000505	Visual impairment	0	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000505	HP:0000505	Visual impairment	0	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000505	HP:0000505	Visual impairment	0	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0000505	HP:0000505	Visual impairment	0	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease	HP:0040284 - Very rare		32
HP:0000505	HP:0000505	Visual impairment	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0000505	HP:0000505	Visual impairment	0	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0000505	HP:0000505	Visual impairment	0	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000505	HP:0000505	Visual impairment	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent		86
HP:0000505	HP:0000505	Visual impairment	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000505	HP:0000505	Visual impairment	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040283 - Occasional		8
HP:0000505	HP:0000505	Visual impairment	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000505	HP:0000505	Visual impairment	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0000505	HP:0000505	Visual impairment	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000505	HP:0000505	Visual impairment	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0000505	HP:0000505	Visual impairment	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000505	HP:0000505	Visual impairment	0	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3			1053
HP:0000505	HP:0000505	Visual impairment	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0000505	HP:0000505	Visual impairment	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0000505	HP:0000505	Visual impairment	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		40
HP:0000505	HP:0000505	Visual impairment	0	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		61
HP:0000505	HP:0000505	Visual impairment	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0000505	HP:0000505	Visual impairment	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0000505	HP:0000505	Visual impairment	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000505	HP:0000505	Visual impairment	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0000505	HP:0000505	Visual impairment	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0000505	HP:0000505	Visual impairment	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0000505	HP:0000505	Visual impairment	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0000505	HP:0000505	Visual impairment	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0000505	HP:0000505	Visual impairment	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000505	HP:0000505	Visual impairment	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		14
HP:0000505	HP:0000505	Visual impairment	0	SEMA4A CL E G H	64218	10729	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		48
HP:0000505	HP:0000505	Visual impairment	0	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10			48
HP:0000505	HP:0000505	Visual impairment	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0000505	HP:0000505	Visual impairment	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000505	HP:0000505	Visual impairment	0	SEMA4A CL E G H	64218	10729	OMIM:610282	Retinitis pigmentosa 35			48
HP:0000505	HP:0000505	Visual impairment	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0000505	HP:0000505	Visual impairment	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000505	HP:0000505	Visual impairment	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent		143
HP:0000505	HP:0000505	Visual impairment	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000505	HP:0000505	Visual impairment	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000505	HP:0000505	Visual impairment	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma			19
HP:0000505	HP:0000505	Visual impairment	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000505	HP:0000505	Visual impairment	0	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.		17
HP:0000505	HP:0000505	Visual impairment	0	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040283 - Occasional		177
HP:0000505	HP:0000505	Visual impairment	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0000505	HP:0000505	Visual impairment	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000505	HP:0000505	Visual impairment	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000505	HP:0000505	Visual impairment	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0000505	HP:0000505	Visual impairment	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0000505	HP:0000505	Visual impairment	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0000505	HP:0000505	Visual impairment	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0000505	HP:0000505	Visual impairment	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000505	HP:0000505	Visual impairment	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000505	HP:0000505	Visual impairment	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000505	HP:0000505	Visual impairment	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000505	HP:0000505	Visual impairment	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0000505	HP:0000505	Visual impairment	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0000505	HP:0000505	Visual impairment	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0000505	HP:0000505	Visual impairment	0	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6			63
HP:0000505	HP:0000505	Visual impairment	0	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0000505	HP:0000505	Visual impairment	0	SLC24A1 CL E G H	9187	10975	OMIM:613830	Night blindness, congenital stationary, type 1D			66
HP:0000505	HP:0000505	Visual impairment	0	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI	.		12
HP:0000505	HP:0000505	Visual impairment	0	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6			12
HP:0000505	HP:0000505	Visual impairment	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria			28
HP:0000505	HP:0000505	Visual impairment	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0000505	HP:0000505	Visual impairment	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000505	HP:0000505	Visual impairment	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000505	HP:0000505	Visual impairment	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0000505	HP:0000505	Visual impairment	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0000505	HP:0000505	Visual impairment	0	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	.		13
HP:0000505	HP:0000505	Visual impairment	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0000505	HP:0000505	Visual impairment	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040283 - Occasional		55
HP:0000505	HP:0000505	Visual impairment	0	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0000505	HP:0000505	Visual impairment	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4			42
HP:0000505	HP:0000505	Visual impairment	0	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II			66
HP:0000505	HP:0000505	Visual impairment	0	SLC4A11 CL E G H	83959	16438	OMIM:613268	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4			66
HP:0000505	HP:0000505	Visual impairment	0	SLC4A11 CL E G H	83959	16438	ORPHA:1490	Corneal dystrophy-perceptive deafness syndrome	HP:0040281 - Very frequent		66
HP:0000505	HP:0000505	Visual impairment	0	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness			66
HP:0000505	HP:0000505	Visual impairment	0	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0000505	HP:0000505	Visual impairment	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0000505	HP:0000505	Visual impairment	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000505	HP:0000505	Visual impairment	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000505	HP:0000505	Visual impairment	0	SLC7A14 CL E G H	57709	29326	OMIM:615725	Retinitis pigmentosa 68			4
HP:0000505	HP:0000505	Visual impairment	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0000505	HP:0000505	Visual impairment	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0000505	HP:0000505	Visual impairment	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0000505	HP:0000505	Visual impairment	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0000505	HP:0000505	Visual impairment	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0000505	HP:0000505	Visual impairment	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0000505	HP:0000505	Visual impairment	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0000505	HP:0000505	Visual impairment	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000505	HP:0000505	Visual impairment	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0000505	HP:0000505	Visual impairment	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0000505	HP:0000505	Visual impairment	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000505	HP:0000505	Visual impairment	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0000505	HP:0000505	Visual impairment	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome			174
HP:0000505	HP:0000505	Visual impairment	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.		2
HP:0000505	HP:0000505	Visual impairment	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0000505	HP:0000505	Visual impairment	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000505	HP:0000505	Visual impairment	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0000505	HP:0000505	Visual impairment	0	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33			83
HP:0000505	HP:0000505	Visual impairment	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0000505	HP:0000505	Visual impairment	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0000505	HP:0000505	Visual impairment	0	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	HP:0040283 - Occasional		29
HP:0000505	HP:0000505	Visual impairment	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000505	HP:0000505	Visual impairment	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000505	HP:0000505	Visual impairment	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0000505	HP:0000505	Visual impairment	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0000505	HP:0000505	Visual impairment	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		61
HP:0000505	HP:0000505	Visual impairment	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0000505	HP:0000505	Visual impairment	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0000505	HP:0000505	Visual impairment	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent		33
HP:0000505	HP:0000505	Visual impairment	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent		24
HP:0000505	HP:0000505	Visual impairment	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.		19
HP:0000505	HP:0000505	Visual impairment	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040281 - Very frequent		19
HP:0000505	HP:0000505	Visual impairment	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000505	HP:0000505	Visual impairment	0	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis			48
HP:0000505	HP:0000505	Visual impairment	0	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3			48
HP:0000505	HP:0000505	Visual impairment	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000505	HP:0000505	Visual impairment	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		48
HP:0000505	HP:0000505	Visual impairment	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0000505	HP:0000505	Visual impairment	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional		287
HP:0000505	HP:0000505	Visual impairment	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	HP:0003581 - Adult onset	287
HP:0000505	HP:0000505	Visual impairment	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		5
HP:0000505	HP:0000505	Visual impairment	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000505	HP:0000505	Visual impairment	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000505	HP:0000505	Visual impairment	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0000505	HP:0000505	Visual impairment	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG			80
HP:0000505	HP:0000505	Visual impairment	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0000505	HP:0000505	Visual impairment	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0000505	HP:0000505	Visual impairment	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0000505	HP:0000505	Visual impairment	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000505	HP:0000505	Visual impairment	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000505	HP:0000505	Visual impairment	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0000505	HP:0000505	Visual impairment	0	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			2
HP:0000505	HP:0000505	Visual impairment	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0000505	HP:0000505	Visual impairment	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0000505	HP:0000505	Visual impairment	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0000505	HP:0000505	Visual impairment	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0000505	HP:0000505	Visual impairment	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0000505	HP:0000505	Visual impairment	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0000505	HP:0000505	Visual impairment	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000505	HP:0000505	Visual impairment	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent		80
HP:0000505	HP:0000505	Visual impairment	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0000505	HP:0000505	Visual impairment	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		73
HP:0000505	HP:0000505	Visual impairment	0	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.		9
HP:0000505	HP:0000505	Visual impairment	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.		1
HP:0000505	HP:0000505	Visual impairment	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000505	HP:0000505	Visual impairment	0	TACSTD2 CL E G H	4070	11530	OMIM:204870	Corneal dystrophy, gelatinous drop-like	.		42
HP:0000505	HP:0000505	Visual impairment	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0000505	HP:0000505	Visual impairment	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000505	HP:0000505	Visual impairment	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000505	HP:0000505	Visual impairment	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2			43
HP:0000505	HP:0000505	Visual impairment	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0000505	HP:0000505	Visual impairment	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0000505	HP:0000505	Visual impairment	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000505	HP:0000505	Visual impairment	0	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16			271
HP:0000505	HP:0000505	Visual impairment	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0000505	HP:0000505	Visual impairment	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0000505	HP:0000505	Visual impairment	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000505	HP:0000505	Visual impairment	0	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0000505	HP:0000505	Visual impairment	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0000505	HP:0000505	Visual impairment	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare		82
HP:0000505	HP:0000505	Visual impairment	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0000505	HP:0000505	Visual impairment	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000505	HP:0000505	Visual impairment	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		140
HP:0000505	HP:0000505	Visual impairment	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000505	HP:0000505	Visual impairment	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0000505	HP:0000505	Visual impairment	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0000505	HP:0000505	Visual impairment	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000505	HP:0000505	Visual impairment	0	TEK CL E G H	7010	11724	ORPHA:98976	Congenital glaucoma			78
HP:0000505	HP:0000505	Visual impairment	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000505	HP:0000505	Visual impairment	0	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0000505	HP:0000505	Visual impairment	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0000505	HP:0000505	Visual impairment	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000505	HP:0000505	Visual impairment	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000505	HP:0000505	Visual impairment	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive			18
HP:0000505	HP:0000505	Visual impairment	0	TGFBI CL E G H	7045	11771	OMIM:607541	Corneal dystrophy, Avellino type	.		58
HP:0000505	HP:0000505	Visual impairment	0	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane			58
HP:0000505	HP:0000505	Visual impairment	0	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I			58
HP:0000505	HP:0000505	Visual impairment	0	TGFBI CL E G H	7045	11771	OMIM:608471	Corneal dystrophy, lattice type IIIA	.		58
HP:0000505	HP:0000505	Visual impairment	0	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type			58
HP:0000505	HP:0000505	Visual impairment	0	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I			58
HP:0000505	HP:0000505	Visual impairment	0	TGFBI CL E G H	7045	11771	ORPHA:98963	Granular corneal dystrophy type II			58
HP:0000505	HP:0000505	Visual impairment	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0000505	HP:0000505	Visual impairment	0	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy			58
HP:0000505	HP:0000505	Visual impairment	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0000505	HP:0000505	Visual impairment	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm			1
HP:0000505	HP:0000505	Visual impairment	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000505	HP:0000505	Visual impairment	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000505	HP:0000505	Visual impairment	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000505	HP:0000505	Visual impairment	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000505	HP:0000505	Visual impairment	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000505	HP:0000505	Visual impairment	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0000505	HP:0000505	Visual impairment	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm			2
HP:0000505	HP:0000505	Visual impairment	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0000505	HP:0000505	Visual impairment	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0000505	HP:0000505	Visual impairment	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0000505	HP:0000505	Visual impairment	0	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy			95
HP:0000505	HP:0000505	Visual impairment	0	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy			95
HP:0000505	HP:0000505	Visual impairment	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		103
HP:0000505	HP:0000505	Visual impairment	0	TLCD3B CL E G H	83723	25295	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0000505	HP:0000505	Visual impairment	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0000505	HP:0000505	Visual impairment	0	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000505	HP:0000505	Visual impairment	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0000505	HP:0000505	Visual impairment	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		39
HP:0000505	HP:0000505	Visual impairment	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0000505	HP:0000505	Visual impairment	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		45
HP:0000505	HP:0000505	Visual impairment	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		33
HP:0000505	HP:0000505	Visual impairment	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		82
HP:0000505	HP:0000505	Visual impairment	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000505	HP:0000505	Visual impairment	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0000505	HP:0000505	Visual impairment	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		166
HP:0000505	HP:0000505	Visual impairment	0	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4	HP:0040283 - Occasional		3
HP:0000505	HP:0000505	Visual impairment	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0000505	HP:0000505	Visual impairment	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0000505	HP:0000505	Visual impairment	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0000505	HP:0000505	Visual impairment	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0000505	HP:0000505	Visual impairment	0	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31			61
HP:0000505	HP:0000505	Visual impairment	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040283 - Occasional		911
HP:0000505	HP:0000505	Visual impairment	0	TP53 CL E G H	7157	11998	ORPHA:2807	Papilloma of choroid plexus	HP:0040283 - Occasional		911
HP:0000505	HP:0000505	Visual impairment	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0000505	HP:0000505	Visual impairment	0	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2			203
HP:0000505	HP:0000505	Visual impairment	0	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		6
HP:0000505	HP:0000505	Visual impairment	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0000505	HP:0000505	Visual impairment	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000505	HP:0000505	Visual impairment	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040282 - Frequent		27
HP:0000505	HP:0000505	Visual impairment	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0000505	HP:0000505	Visual impairment	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity			2
HP:0000505	HP:0000505	Visual impairment	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0000505	HP:0000505	Visual impairment	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0000505	HP:0000505	Visual impairment	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0000505	HP:0000505	Visual impairment	0	TRIM44 CL E G H	54765	19016	OMIM:617142	Aniridia 3			1
HP:0000505	HP:0000505	Visual impairment	0	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia			1
HP:0000505	HP:0000505	Visual impairment	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0000505	HP:0000505	Visual impairment	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0000505	HP:0000505	Visual impairment	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0000505	HP:0000505	Visual impairment	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0000505	HP:0000505	Visual impairment	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0000505	HP:0000505	Visual impairment	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0000505	HP:0000505	Visual impairment	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0000505	HP:0000505	Visual impairment	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000505	HP:0000505	Visual impairment	0	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0000505	HP:0000505	Visual impairment	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0000505	HP:0000505	Visual impairment	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000505	Visual impairment	0	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0000505	HP:0000505	Visual impairment	0	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000505	HP:0000505	Visual impairment	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0000505	HP:0000505	Visual impairment	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0000505	HP:0000505	Visual impairment	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0000505	HP:0000505	Visual impairment	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.		84
HP:0000505	HP:0000505	Visual impairment	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0000505	HP:0000505	Visual impairment	0	TSEN34 CL E G H	79042	15506	OMIM:612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C			57
HP:0000505	HP:0000505	Visual impairment	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0000505	HP:0000505	Visual impairment	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.		102
HP:0000505	HP:0000505	Visual impairment	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0000505	HP:0000505	Visual impairment	0	TSPAN12 CL E G H	23554	21641	OMIM:613310	Exudative vitreoretinopathy 5	HP:0040283 - Occasional		39
HP:0000505	HP:0000505	Visual impairment	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000505	HP:0000505	Visual impairment	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0000505	HP:0000505	Visual impairment	0	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.		41
HP:0000505	HP:0000505	Visual impairment	0	TTLL5 CL E G H	23093	19963	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		9
HP:0000505	HP:0000505	Visual impairment	0	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0000505	HP:0000505	Visual impairment	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040283 - Occasional		62
HP:0000505	HP:0000505	Visual impairment	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0000505	HP:0000505	Visual impairment	0	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity	.		1
HP:0000505	HP:0000505	Visual impairment	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000505	HP:0000505	Visual impairment	0	TUBA3D CL E G H	113457	24071	OMIM:617928	Keratoconus 9
HP:0000505	HP:0000505	Visual impairment	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation			39
HP:0000505	HP:0000505	Visual impairment	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000505	HP:0000505	Visual impairment	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000505	HP:0000505	Visual impairment	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.		66
HP:0000505	HP:0000505	Visual impairment	0	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0000505	HP:0000505	Visual impairment	0	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000505	HP:0000505	Visual impairment	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000505	HP:0000505	Visual impairment	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		14
HP:0000505	HP:0000505	Visual impairment	0	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3	.		14
HP:0000505	HP:0000505	Visual impairment	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		61
HP:0000505	HP:0000505	Visual impairment	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	.		61
HP:0000505	HP:0000505	Visual impairment	0	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis			66
HP:0000505	HP:0000505	Visual impairment	0	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.		66
HP:0000505	HP:0000505	Visual impairment	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0000505	HP:0000505	Visual impairment	0	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000505	HP:0000505	Visual impairment	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000505	HP:0000505	Visual impairment	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent		7
HP:0000505	HP:0000505	Visual impairment	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0000505	HP:0000505	Visual impairment	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0000505	HP:0000505	Visual impairment	0	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB	.		146
HP:0000505	HP:0000505	Visual impairment	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040282 - Frequent		146
HP:0000505	HP:0000505	Visual impairment	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040282 - Frequent		146
HP:0000505	HP:0000505	Visual impairment	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0000505	HP:0000505	Visual impairment	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0000505	HP:0000505	Visual impairment	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000505	HP:0000505	Visual impairment	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0000505	HP:0000505	Visual impairment	0	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0000505	HP:0000505	Visual impairment	0	UNC119 CL E G H	9094	12565	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		30
HP:0000505	HP:0000505	Visual impairment	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0000505	HP:0000505	Visual impairment	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0000505	HP:0000505	Visual impairment	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000505	HP:0000505	Visual impairment	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0000505	HP:0000505	Visual impairment	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000505	HP:0000505	Visual impairment	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0000505	HP:0000505	Visual impairment	0	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39	.		777
HP:0000505	HP:0000505	Visual impairment	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000505	HP:0000505	Visual impairment	0	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0000505	HP:0000505	Visual impairment	0	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0000505	HP:0000505	Visual impairment	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040283 - Occasional		1
HP:0000505	HP:0000505	Visual impairment	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040283 - Occasional		7
HP:0000505	HP:0000505	Visual impairment	0	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0000505	HP:0000505	Visual impairment	0	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy			180
HP:0000505	HP:0000505	Visual impairment	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0000505	HP:0000505	Visual impairment	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0000505	HP:0000505	Visual impairment	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0000505	HP:0000505	Visual impairment	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0000505	HP:0000505	Visual impairment	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000505	Visual impairment	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0000505	HP:0000505	Visual impairment	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000505	HP:0000505	Visual impairment	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000505	HP:0000505	Visual impairment	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000505	HP:0000505	Visual impairment	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0000505	HP:0000505	Visual impairment	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040281 - Very frequent		20
HP:0000505	HP:0000505	Visual impairment	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0000505	HP:0000505	Visual impairment	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0000505	HP:0000505	Visual impairment	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000505	HP:0000505	Visual impairment	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000505	HP:0000505	Visual impairment	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		10
HP:0000505	HP:0000505	Visual impairment	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0000505	HP:0000505	Visual impairment	0	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		95
HP:0000505	HP:0000505	Visual impairment	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8	.		95
HP:0000505	HP:0000505	Visual impairment	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0000505	HP:0000505	Visual impairment	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0000505	HP:0000505	Visual impairment	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.		1
HP:0000505	HP:0000505	Visual impairment	0	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000505	HP:0000505	Visual impairment	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000505	HP:0000505	Visual impairment	0	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID			155
HP:0000505	HP:0000505	Visual impairment	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		177
HP:0000505	HP:0000505	Visual impairment	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0000505	HP:0000505	Visual impairment	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0000505	HP:0000505	Visual impairment	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0000505	HP:0000505	Visual impairment	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0000505	HP:0000505	Visual impairment	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000505	HP:0000505	Visual impairment	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000505	HP:0000505	Visual impairment	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040283 - Occasional		2
HP:0000505	HP:0000505	Visual impairment	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000505	HP:0000505	Visual impairment	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0000505	HP:0000505	Visual impairment	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0000505	HP:0000505	Visual impairment	0	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6			8
HP:0000505	HP:0000505	Visual impairment	0	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0000505	HP:0000505	Visual impairment	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0000505	HP:0000505	Visual impairment	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0000505	HP:0000505	Visual impairment	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000505	HP:0000505	Visual impairment	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.		189
HP:0000505	HP:0000505	Visual impairment	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0000505	HP:0000505	Visual impairment	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0000505	HP:0000505	Visual impairment	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0000505	HP:0000505	Visual impairment	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0000505	HP:0000505	Visual impairment	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000505	HP:0000505	Visual impairment	0	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6			14
HP:0000505	HP:0000505	Visual impairment	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0000505	HP:0000505	Visual impairment	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000505	HP:0000505	Visual impairment	0	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72			14
HP:0000505	HP:0000505	Visual impairment	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		49
HP:0000505	HP:0000505	Visual impairment	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0000505	HP:0000505	Visual impairment	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0000505	HP:0000505	Visual impairment	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0000505	HP:0000505	Visual impairment	0	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0000505	HP:0000505	Visual impairment	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0000505	HP:0001123	Visual field defect	1	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0000505	HP:0000572	Visual loss	1	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000505	HP:0001123	Visual field defect	1	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000505	HP:0007663	Reduced visual acuity	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0000505	HP:0007663	Reduced visual acuity	1	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19	.		826
HP:0000505	HP:0001123	Visual field defect	1	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19			826
HP:0000505	HP:0001123	Visual field defect	1	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease			826
HP:0000505	HP:0007663	Reduced visual acuity	1	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040280 - Obligate		826
HP:0000505	HP:0007663	Reduced visual acuity	1	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.		415
HP:0000505	HP:0007663	Reduced visual acuity	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0000505	HP:0007663	Reduced visual acuity	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0000505	HP:0000572	Visual loss	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0000505	HP:0007663	Reduced visual acuity	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0000505	HP:0001123	Visual field defect	1	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9			60
HP:0000505	HP:0007663	Reduced visual acuity	1	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9	.		60
HP:0000505	HP:0007663	Reduced visual acuity	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0000505	HP:0007663	Reduced visual acuity	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0000505	HP:0001123	Visual field defect	1	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040282 - Frequent		22
HP:0000505	HP:0000572	Visual loss	1	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		63
HP:0000505	HP:0007663	Reduced visual acuity	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0000505	HP:0007663	Reduced visual acuity	1	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis			84
HP:0000505	HP:0100704	Cerebral visual impairment	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0000505	HP:0001123	Visual field defect	1	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000505	HP:0000572	Visual loss	1	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		530
HP:0000505	HP:0100704	Cerebral visual impairment	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0000505	HP:0007663	Reduced visual acuity	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000505	HP:0100704	Cerebral visual impairment	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000505	HP:0007663	Reduced visual acuity	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0000505	HP:0007663	Reduced visual acuity	1	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12			86
HP:0000505	HP:0000572	Visual loss	1	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000505	HP:0007663	Reduced visual acuity	1	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000505	HP:0007663	Reduced visual acuity	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0000505	HP:0001123	Visual field defect	1	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75			2
HP:0000505	HP:0000572	Visual loss	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000505	HP:0100704	Cerebral visual impairment	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional		36
HP:0000505	HP:0000572	Visual loss	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		175
HP:0000505	HP:0007663	Reduced visual acuity	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0000505	HP:0007663	Reduced visual acuity	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0000505	HP:0007663	Reduced visual acuity	1	AHR CL E G H	196	348	OMIM:618345	RETINITIS PIGMENTOSA 85; RP85			2
HP:0000505	HP:0000572	Visual loss	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000505	HP:0007663	Reduced visual acuity	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000505	HP:0001123	Visual field defect	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000505	HP:0007663	Reduced visual acuity	1	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis			114
HP:0000505	HP:0007663	Reduced visual acuity	1	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.		114
HP:0000505	HP:0001123	Visual field defect	1	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa			114
HP:0000505	HP:0001123	Visual field defect	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000505	HP:0007663	Reduced visual acuity	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000505	HP:0007663	Reduced visual acuity	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000505	HP:0000572	Visual loss	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000505	HP:0001123	Visual field defect	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000505	HP:0001123	Visual field defect	1	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly			19
HP:0000505	HP:0007663	Reduced visual acuity	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0000505	HP:0007663	Reduced visual acuity	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000505	HP:0000572	Visual loss	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0000505	HP:0001123	Visual field defect	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0000505	HP:0007663	Reduced visual acuity	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000505	HP:0001123	Visual field defect	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000505	HP:0000572	Visual loss	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000505	HP:0007663	Reduced visual acuity	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000505	HP:0000572	Visual loss	1	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss	.
HP:0000505	HP:0001123	Visual field defect	1	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency			44
HP:0000505	HP:0001123	Visual field defect	1	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0000505	HP:0100704	Cerebral visual impairment	1	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.		21
HP:0000505	HP:0001123	Visual field defect	1	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent
HP:0000505	HP:0000572	Visual loss	1	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000505	HP:0007663	Reduced visual acuity	1	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000505	HP:0007663	Reduced visual acuity	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000505	HP:0007663	Reduced visual acuity	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000505	HP:0007663	Reduced visual acuity	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0000505	HP:0007663	Reduced visual acuity	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0000505	HP:0007663	Reduced visual acuity	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0000505	HP:0007663	Reduced visual acuity	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0000505	HP:0007663	Reduced visual acuity	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0000505	HP:0000572	Visual loss	1	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1			39
HP:0000505	HP:0100704	Cerebral visual impairment	1	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.		3
HP:0000505	HP:0007663	Reduced visual acuity	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0000505	HP:0007663	Reduced visual acuity	1	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78	.		6
HP:0000505	HP:0001123	Visual field defect	1	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78	.		6
HP:0000505	HP:0007663	Reduced visual acuity	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000505	HP:0007663	Reduced visual acuity	1	ARL2 CL E G H	402	693	OMIM:619082	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0000505	HP:0007663	Reduced visual acuity	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0000505	HP:0007663	Reduced visual acuity	1	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus	.		3
HP:0000505	HP:0000572	Visual loss	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000505	HP:0007663	Reduced visual acuity	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0000505	HP:0001123	Visual field defect	1	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0000505	HP:0007663	Reduced visual acuity	1	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0000505	HP:0001123	Visual field defect	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000505	HP:0007663	Reduced visual acuity	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000505	HP:0007663	Reduced visual acuity	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0000505	HP:0001123	Visual field defect	1	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa			29
HP:0000505	HP:0007663	Reduced visual acuity	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0000505	HP:0007663	Reduced visual acuity	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0000505	HP:0100704	Cerebral visual impairment	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000505	HP:0007663	Reduced visual acuity	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		253
HP:0000505	HP:0007663	Reduced visual acuity	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		253
HP:0000505	HP:0007663	Reduced visual acuity	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		253
HP:0000505	HP:0000572	Visual loss	1	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000505	HP:0001123	Visual field defect	1	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000505	HP:0001123	Visual field defect	1	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000505	HP:0001123	Visual field defect	1	ASB10 CL E G H	136371	17185	OMIM:603383	GLAUCOMA 1, OPEN ANGLE, F; GLC1F			54
HP:0000505	HP:0100704	Cerebral visual impairment	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.		17
HP:0000505	HP:0007663	Reduced visual acuity	1	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000505	HP:0007663	Reduced visual acuity	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0000505	HP:0007663	Reduced visual acuity	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs			4
HP:0000505	HP:0001123	Visual field defect	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0000505	HP:0007663	Reduced visual acuity	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		10
HP:0000505	HP:0001123	Visual field defect	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000505	HP:0007663	Reduced visual acuity	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000505	HP:0007663	Reduced visual acuity	1	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0000505	HP:0007663	Reduced visual acuity	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0000505	HP:0100704	Cerebral visual impairment	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.		16
HP:0000505	HP:0007663	Reduced visual acuity	1	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000505	HP:0007663	Reduced visual acuity	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000505	HP:0001123	Visual field defect	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000505	HP:0000572	Visual loss	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0000505	HP:0007663	Reduced visual acuity	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0000505	HP:0001123	Visual field defect	1	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000572	Visual loss	1	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000572	Visual loss	1	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0001123	Visual field defect	1	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0001123	Visual field defect	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0000505	HP:0007663	Reduced visual acuity	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0000505	HP:0007663	Reduced visual acuity	1	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0000505	HP:0007663	Reduced visual acuity	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0000505	HP:0001123	Visual field defect	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0000505	HP:0000572	Visual loss	1	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II			8
HP:0000505	HP:0000572	Visual loss	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0000505	HP:0007663	Reduced visual acuity	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0000505	HP:0007663	Reduced visual acuity	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11			43
HP:0000505	HP:0007663	Reduced visual acuity	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0000505	HP:0007663	Reduced visual acuity	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0000505	HP:0001123	Visual field defect	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000505	HP:0000572	Visual loss	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000505	HP:0007663	Reduced visual acuity	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000505	HP:0000572	Visual loss	1	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		184
HP:0000505	HP:0001123	Visual field defect	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000505	HP:0007663	Reduced visual acuity	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000505	HP:0007663	Reduced visual acuity	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0000505	HP:0007663	Reduced visual acuity	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0000505	HP:0001123	Visual field defect	1	BBS2 CL E G H	583	967	OMIM:616562	Retinitis pigmentosa 74			97
HP:0000505	HP:0007663	Reduced visual acuity	1	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5			25
HP:0000505	HP:0007663	Reduced visual acuity	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000505	HP:0000572	Visual loss	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.		101
HP:0000505	HP:0001123	Visual field defect	1	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		182
HP:0000505	HP:0001123	Visual field defect	1	BEST1 CL E G H	7439	12703	ORPHA:1243	Best vitelliform macular dystrophy	HP:0040283 - Occasional		182
HP:0000505	HP:0007663	Reduced visual acuity	1	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0000505	HP:0007663	Reduced visual acuity	1	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2	.		182
HP:0000505	HP:0007663	Reduced visual acuity	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0000505	HP:0007663	Reduced visual acuity	1	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50			182
HP:0000505	HP:0007663	Reduced visual acuity	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY			182
HP:0000505	HP:0007663	Reduced visual acuity	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0000505	HP:0007663	Reduced visual acuity	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000505	HP:0007663	Reduced visual acuity	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000505	HP:0001123	Visual field defect	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0000505	HP:0100704	Cerebral visual impairment	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000505	HP:0000572	Visual loss	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000505	HP:0001123	Visual field defect	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000505	HP:0007663	Reduced visual acuity	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000505	HP:0000572	Visual loss	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000505	HP:0001123	Visual field defect	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0000505	HP:0100704	Cerebral visual impairment	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0000505	HP:0000572	Visual loss	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0000505	HP:0001123	Visual field defect	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0000505	HP:0000572	Visual loss	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0000505	HP:0007663	Reduced visual acuity	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0000505	HP:0000572	Visual loss	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0000505	HP:0007663	Reduced visual acuity	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000505	HP:0000572	Visual loss	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent		20
HP:0000505	HP:0007663	Reduced visual acuity	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000505	HP:0001123	Visual field defect	1	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration			20
HP:0000505	HP:0007663	Reduced visual acuity	1	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration			20
HP:0000505	HP:0000572	Visual loss	1	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration	.		20
HP:0000505	HP:0007663	Reduced visual acuity	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0000505	HP:0000572	Visual loss	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.		29
HP:0000505	HP:0007663	Reduced visual acuity	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0000505	HP:0007663	Reduced visual acuity	1	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		94
HP:0000505	HP:0001123	Visual field defect	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000505	HP:0100704	Cerebral visual impairment	1	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.		5
HP:0000505	HP:0100704	Cerebral visual impairment	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional		51
HP:0000505	HP:0100704	Cerebral visual impairment	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent		51
HP:0000505	HP:0100704	Cerebral visual impairment	1	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69	.		11
HP:0000505	HP:0007663	Reduced visual acuity	1	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease			58
HP:0000505	HP:0007663	Reduced visual acuity	1	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent		58
HP:0000505	HP:0001123	Visual field defect	1	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000505	HP:0007663	Reduced visual acuity	1	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3	.		58
HP:0000505	HP:0007663	Reduced visual acuity	1	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		58
HP:0000505	HP:0007663	Reduced visual acuity	1	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A	.		58
HP:0000505	HP:0007663	Reduced visual acuity	1	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		129
HP:0000505	HP:0007663	Reduced visual acuity	1	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4	.		129
HP:0000505	HP:0001123	Visual field defect	1	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0000505	HP:0007663	Reduced visual acuity	1	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory			6
HP:0000505	HP:0000572	Visual loss	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0000505	HP:0007663	Reduced visual acuity	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0000505	HP:0100704	Cerebral visual impairment	1	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0000505	HP:0007663	Reduced visual acuity	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000505	HP:0001123	Visual field defect	1	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93			247
HP:0000505	HP:0007663	Reduced visual acuity	1	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93			247
HP:0000505	HP:0001123	Visual field defect	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000505	HP:0007663	Reduced visual acuity	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000505	HP:0100704	Cerebral visual impairment	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0000505	HP:0000572	Visual loss	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0000505	HP:0007663	Reduced visual acuity	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0000505	HP:0007663	Reduced visual acuity	1	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0000505	HP:0007663	Reduced visual acuity	1	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0000505	HP:0000572	Visual loss	1	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0000505	HP:0007663	Reduced visual acuity	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0000505	HP:0007663	Reduced visual acuity	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000505	HP:0001123	Visual field defect	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0000505	HP:0000572	Visual loss	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000505	HP:0001123	Visual field defect	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000505	HP:0007663	Reduced visual acuity	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000505	HP:0007663	Reduced visual acuity	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000505	HP:0001123	Visual field defect	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000505	HP:0000572	Visual loss	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000505	HP:0001123	Visual field defect	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000505	HP:0000572	Visual loss	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0000505	HP:0007663	Reduced visual acuity	1	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0000505	HP:0007663	Reduced visual acuity	1	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0000505	HP:0001123	Visual field defect	1	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000505	HP:0000572	Visual loss	1	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000505	HP:0007663	Reduced visual acuity	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0000505	HP:0100704	Cerebral visual impairment	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0000505	HP:0100704	Cerebral visual impairment	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0000505	HP:0100704	Cerebral visual impairment	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0000505	HP:0100704	Cerebral visual impairment	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0000505	HP:0100704	Cerebral visual impairment	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0000505	HP:0000572	Visual loss	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		7
HP:0000505	HP:0007663	Reduced visual acuity	1	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15			34
HP:0000505	HP:0000572	Visual loss	1	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0000505	HP:0007663	Reduced visual acuity	1	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000505	HP:0007663	Reduced visual acuity	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0000505	HP:0007663	Reduced visual acuity	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000505	HP:0007663	Reduced visual acuity	1	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis			342
HP:0000505	HP:0000572	Visual loss	1	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0000505	HP:0007663	Reduced visual acuity	1	CEP290 CL E G H	80184	29021	OMIM:610189	Senior-Loken syndrome 6	.		342
HP:0000505	HP:0000572	Visual loss	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		90
HP:0000505	HP:0001123	Visual field defect	1	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000505	HP:0000572	Visual loss	1	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		9
HP:0000505	HP:0100704	Cerebral visual impairment	1	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0000505	HP:0100704	Cerebral visual impairment	1	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0000505	HP:0007663	Reduced visual acuity	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0000505	HP:0001123	Visual field defect	1	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0000505	HP:0100704	Cerebral visual impairment	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0000505	HP:0001123	Visual field defect	1	CFAP410 CL E G H	755	1260	OMIM:617547	Retinal dystrophy with or without macular staphyloma
HP:0000505	HP:0001123	Visual field defect	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000505	HP:0007663	Reduced visual acuity	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000505	HP:0007663	Reduced visual acuity	1	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000505	HP:0000572	Visual loss	1	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000505	HP:0007663	Reduced visual acuity	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0000505	HP:0001123	Visual field defect	1	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa
HP:0000505	HP:0000572	Visual loss	1	CFH CL E G H	3075	4883	OMIM:126700	Basal laminar drusen			86
HP:0000505	HP:0001123	Visual field defect	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen			86
HP:0000505	HP:0000572	Visual loss	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent		86
HP:0000505	HP:0000572	Visual loss	1	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000505	HP:0000572	Visual loss	1	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000505	HP:0001123	Visual field defect	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen			57
HP:0000505	HP:0000572	Visual loss	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent		57
HP:0000505	HP:0000572	Visual loss	1	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13			57
HP:0000505	HP:0100704	Cerebral visual impairment	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	HP:0040284 - Very rare		2
HP:0000505	HP:0100704	Cerebral visual impairment	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0000505	HP:0001123	Visual field defect	1	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA			47
HP:0000505	HP:0000572	Visual loss	1	CHM CL E G H	1121	1940	ORPHA:180	Choroideremia			47
HP:0000505	HP:0000572	Visual loss	1	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA			47
HP:0000505	HP:0100704	Cerebral visual impairment	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	HP:0040283 - Occasional		19
HP:0000505	HP:0007663	Reduced visual acuity	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000505	HP:0007663	Reduced visual acuity	1	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2			35
HP:0000505	HP:0007663	Reduced visual acuity	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0000505	HP:0007663	Reduced visual acuity	1	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA			9
HP:0000505	HP:0007663	Reduced visual acuity	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0000505	HP:0007663	Reduced visual acuity	1	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy			129
HP:0000505	HP:0000572	Visual loss	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0000505	HP:0001123	Visual field defect	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000505	HP:0007663	Reduced visual acuity	1	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0000505	HP:0001123	Visual field defect	1	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia	HP:0040283 - Occasional		44
HP:0000505	HP:0100704	Cerebral visual impairment	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional		45
HP:0000505	HP:0100704	Cerebral visual impairment	1	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	HP:0040284 - Very rare		45
HP:0000505	HP:0100704	Cerebral visual impairment	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000505	HP:0007663	Reduced visual acuity	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000505	HP:0007663	Reduced visual acuity	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0000505	HP:0007663	Reduced visual acuity	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.		102
HP:0000505	HP:0000572	Visual loss	1	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.		102
HP:0000505	HP:0007663	Reduced visual acuity	1	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0000505	HP:0007663	Reduced visual acuity	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0000505	HP:0000572	Visual loss	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0000505	HP:0007663	Reduced visual acuity	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000505	HP:0000572	Visual loss	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000505	HP:0000572	Visual loss	1	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5			141
HP:0000505	HP:0000572	Visual loss	1	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6			143
HP:0000505	HP:0000572	Visual loss	1	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8			111
HP:0000505	HP:0000572	Visual loss	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0000505	HP:0007663	Reduced visual acuity	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0000505	HP:0001123	Visual field defect	1	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa			60
HP:0000505	HP:0001123	Visual field defect	1	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000505	HP:0000572	Visual loss	1	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		60
HP:0000505	HP:0007663	Reduced visual acuity	1	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA	.		60
HP:0000505	HP:0001123	Visual field defect	1	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA	HP:0040282 - Frequent		60
HP:0000505	HP:0007663	Reduced visual acuity	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0000505	HP:0001123	Visual field defect	1	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa			44
HP:0000505	HP:0007663	Reduced visual acuity	1	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0000505	HP:0001123	Visual field defect	1	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0000505	HP:0007663	Reduced visual acuity	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		82
HP:0000505	HP:0001123	Visual field defect	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0000505	HP:0007663	Reduced visual acuity	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000505	HP:0007663	Reduced visual acuity	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0000505	HP:0001123	Visual field defect	1	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45			164
HP:0000505	HP:0007663	Reduced visual acuity	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		194
HP:0000505	HP:0001123	Visual field defect	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0000505	HP:0007663	Reduced visual acuity	1	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000505	HP:0001123	Visual field defect	1	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease			194
HP:0000505	HP:0007663	Reduced visual acuity	1	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040280 - Obligate		194
HP:0000505	HP:0001123	Visual field defect	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000505	HP:0100704	Cerebral visual impairment	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0000505	HP:0007663	Reduced visual acuity	1	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0000505	HP:0007663	Reduced visual acuity	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0000505	HP:0000572	Visual loss	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0000505	HP:0001123	Visual field defect	1	COL18A1 CL E G H	80781	2195	OMIM:618880	GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC			177
HP:0000505	HP:0000572	Visual loss	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent		177
HP:0000505	HP:0007663	Reduced visual acuity	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000505	HP:0000572	Visual loss	1	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040283 - Occasional		284
HP:0000505	HP:0007663	Reduced visual acuity	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0000505	HP:0001123	Visual field defect	1	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent		749
HP:0000505	HP:0007663	Reduced visual acuity	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	HP:0040284 - Very rare		193
HP:0000505	HP:0001123	Visual field defect	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.		193
HP:0000505	HP:0000572	Visual loss	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0000505	HP:0000572	Visual loss	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0000505	HP:0007663	Reduced visual acuity	1	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000505	HP:0000572	Visual loss	1	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000505	HP:0007663	Reduced visual acuity	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		3
HP:0000505	HP:0007663	Reduced visual acuity	1	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000505	HP:0007663	Reduced visual acuity	1	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000505	HP:0007663	Reduced visual acuity	1	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0000505	HP:0100704	Cerebral visual impairment	1	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0000505	HP:0000572	Visual loss	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0000505	HP:0100704	Cerebral visual impairment	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0000505	HP:0001123	Visual field defect	1	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000572	Visual loss	1	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000572	Visual loss	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000505	HP:0100704	Cerebral visual impairment	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0001123	Visual field defect	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000572	Visual loss	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000505	HP:0100704	Cerebral visual impairment	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0001123	Visual field defect	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000572	Visual loss	1	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0001123	Visual field defect	1	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0001123	Visual field defect	1	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000572	Visual loss	1	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0000572	Visual loss	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000505	HP:0001123	Visual field defect	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0100704	Cerebral visual impairment	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0000572	Visual loss	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0000505	HP:0100704	Cerebral visual impairment	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0000505	HP:0007663	Reduced visual acuity	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0000505	HP:0000572	Visual loss	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0000505	HP:0100704	Cerebral visual impairment	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000505	HP:0007663	Reduced visual acuity	1	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis			156
HP:0000505	HP:0007663	Reduced visual acuity	1	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.		156
HP:0000505	HP:0007663	Reduced visual acuity	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0000505	HP:0007663	Reduced visual acuity	1	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000505	HP:0007663	Reduced visual acuity	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000505	HP:0007663	Reduced visual acuity	1	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000505	HP:0001123	Visual field defect	1	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000505	HP:0007663	Reduced visual acuity	1	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis			158
HP:0000505	HP:0001123	Visual field defect	1	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa			158
HP:0000505	HP:0007663	Reduced visual acuity	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0000505	HP:0007663	Reduced visual acuity	1	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types			33
HP:0000505	HP:0007663	Reduced visual acuity	1	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types	.		18
HP:0000505	HP:0007663	Reduced visual acuity	1	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types			11
HP:0000505	HP:0000572	Visual loss	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0000505	HP:0007663	Reduced visual acuity	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0000505	HP:0001123	Visual field defect	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000505	HP:0000572	Visual loss	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000505	HP:0007663	Reduced visual acuity	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000505	HP:0007663	Reduced visual acuity	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		88
HP:0000505	HP:0007663	Reduced visual acuity	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0000505	HP:0000572	Visual loss	1	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0000505	HP:0001123	Visual field defect	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0000505	HP:0001123	Visual field defect	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000505	HP:0000572	Visual loss	1	CYP1B1 CL E G H	1545	2597	ORPHA:98976	Congenital glaucoma	HP:0040283 - Occasional		101
HP:0000505	HP:0001123	Visual field defect	1	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma			101
HP:0000505	HP:0001123	Visual field defect	1	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000505	HP:0000572	Visual loss	1	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000505	HP:0007663	Reduced visual acuity	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0000505	HP:0001123	Visual field defect	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0000505	HP:0000572	Visual loss	1	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		1
HP:0000505	HP:0000572	Visual loss	1	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0001123	Visual field defect	1	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000572	Visual loss	1	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0001123	Visual field defect	1	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0001123	Visual field defect	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0100704	Cerebral visual impairment	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0100704	Cerebral visual impairment	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0000505	HP:0000572	Visual loss	1	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal			31
HP:0000505	HP:0007663	Reduced visual acuity	1	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000505	HP:0007663	Reduced visual acuity	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0000505	HP:0007663	Reduced visual acuity	1	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0000505	HP:0001123	Visual field defect	1	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0000505	HP:0007663	Reduced visual acuity	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000505	HP:0007663	Reduced visual acuity	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0000505	HP:0100704	Cerebral visual impairment	1	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome	.		118
HP:0000505	HP:0100704	Cerebral visual impairment	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0000505	HP:0100704	Cerebral visual impairment	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0000505	HP:0100704	Cerebral visual impairment	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0000505	HP:0100704	Cerebral visual impairment	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0000505	HP:0001123	Visual field defect	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0000505	HP:0007663	Reduced visual acuity	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional		89
HP:0000505	HP:0100704	Cerebral visual impairment	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0000505	HP:0100704	Cerebral visual impairment	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0000505	HP:0100704	Cerebral visual impairment	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0000505	HP:0100704	Cerebral visual impairment	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0000505	HP:0000572	Visual loss	1	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0001123	Visual field defect	1	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0001123	Visual field defect	1	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000505	HP:0007663	Reduced visual acuity	1	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000505	HP:0007663	Reduced visual acuity	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000505	HP:0001123	Visual field defect	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000505	HP:0000572	Visual loss	1	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000505	HP:0001123	Visual field defect	1	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000505	HP:0100704	Cerebral visual impairment	1	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent		11
HP:0000505	HP:0100704	Cerebral visual impairment	1	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.		11
HP:0000505	HP:0100704	Cerebral visual impairment	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000505	HP:0100704	Cerebral visual impairment	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0000505	HP:0100704	Cerebral visual impairment	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0000505	HP:0007663	Reduced visual acuity	1	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0000505	HP:0007663	Reduced visual acuity	1	DRAM2 CL E G H	128338	28769	OMIM:616502	Cone-Rod dystrophy 21	.		9
HP:0000505	HP:0007663	Reduced visual acuity	1	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.		46
HP:0000505	HP:0100704	Cerebral visual impairment	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000505	HP:0007663	Reduced visual acuity	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0000505	HP:0001123	Visual field defect	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen			54
HP:0000505	HP:0000572	Visual loss	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent		54
HP:0000505	HP:0001123	Visual field defect	1	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma			54
HP:0000505	HP:0007663	Reduced visual acuity	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0000505	HP:0007663	Reduced visual acuity	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0000505	HP:0007663	Reduced visual acuity	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0000505	HP:0007663	Reduced visual acuity	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0000505	HP:0007663	Reduced visual acuity	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0000505	HP:0000572	Visual loss	1	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.		3
HP:0000505	HP:0007663	Reduced visual acuity	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000505	HP:0001123	Visual field defect	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000505	HP:0007663	Reduced visual acuity	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	.
HP:0000505	HP:0007663	Reduced visual acuity	1	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040280 - Obligate		62
HP:0000505	HP:0001123	Visual field defect	1	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease			62
HP:0000505	HP:0007663	Reduced visual acuity	1	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3			62
HP:0000505	HP:0007663	Reduced visual acuity	1	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2			4
HP:0000505	HP:0100704	Cerebral visual impairment	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000505	HP:0100704	Cerebral visual impairment	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040283 - Occasional		5
HP:0000505	HP:0001123	Visual field defect	1	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent		186
HP:0000505	HP:0007663	Reduced visual acuity	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0000505	HP:0001123	Visual field defect	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0000505	HP:0000572	Visual loss	1	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.		83
HP:0000505	HP:0007663	Reduced visual acuity	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000505	HP:0000572	Visual loss	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000505	HP:0007663	Reduced visual acuity	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0000505	HP:0007663	Reduced visual acuity	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0000505	HP:0007663	Reduced visual acuity	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000505	HP:0001123	Visual field defect	1	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000505	HP:0000572	Visual loss	1	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0000505	HP:0000572	Visual loss	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000505	HP:0000572	Visual loss	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000505	HP:0000572	Visual loss	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000505	HP:0007663	Reduced visual acuity	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0000505	HP:0001123	Visual field defect	1	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0000505	HP:0000572	Visual loss	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0000505	HP:0001123	Visual field defect	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent		76
HP:0000505	HP:0007663	Reduced visual acuity	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0000505	HP:0001123	Visual field defect	1	FAM161A CL E G H	84140	25808	OMIM:606068	RETINITIS PIGMENTOSA 28; RP28			56
HP:0000505	HP:0001123	Visual field defect	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0000505	HP:0007663	Reduced visual acuity	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0000505	HP:0007663	Reduced visual acuity	1	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis			1361
HP:0000505	HP:0007663	Reduced visual acuity	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0000505	HP:0000572	Visual loss	1	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		1361
HP:0000505	HP:0007663	Reduced visual acuity	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000505	HP:0007663	Reduced visual acuity	1	FBN2 CL E G H	2201	3604	OMIM:616118	MACULAR DEGENERATION, EARLY-ONSET; EOMD			655
HP:0000505	HP:0100704	Cerebral visual impairment	1	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000505	HP:0100704	Cerebral visual impairment	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0000505	HP:0100704	Cerebral visual impairment	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000505	HP:0001123	Visual field defect	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0000505	HP:0007663	Reduced visual acuity	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0000505	HP:0100704	Cerebral visual impairment	1	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	HP:0040283 - Occasional		3
HP:0000505	HP:0100704	Cerebral visual impairment	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0000505	HP:0100704	Cerebral visual impairment	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0000505	HP:0100704	Cerebral visual impairment	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0000505	HP:0100704	Cerebral visual impairment	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0000505	HP:0100704	Cerebral visual impairment	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0000505	HP:0100704	Cerebral visual impairment	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0000505	HP:0007663	Reduced visual acuity	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000505	HP:0000572	Visual loss	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040283 - Occasional		175
HP:0000505	HP:0007663	Reduced visual acuity	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0000505	HP:0007663	Reduced visual acuity	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000505	HP:0007663	Reduced visual acuity	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000505	HP:0007663	Reduced visual acuity	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000505	HP:0007663	Reduced visual acuity	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0000505	HP:0007663	Reduced visual acuity	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000505	HP:0007663	Reduced visual acuity	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000505	HP:0007663	Reduced visual acuity	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0000505	HP:0007663	Reduced visual acuity	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0000505	HP:0001123	Visual field defect	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0000505	HP:0000572	Visual loss	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040282 - Frequent		111
HP:0000505	HP:0000572	Visual loss	1	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		63
HP:0000505	HP:0007663	Reduced visual acuity	1	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2			23
HP:0000505	HP:0100704	Cerebral visual impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0000505	HP:0100704	Cerebral visual impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0000505	HP:0100704	Cerebral visual impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0000505	HP:0100704	Cerebral visual impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0000505	HP:0007663	Reduced visual acuity	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0000505	HP:0007663	Reduced visual acuity	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0000505	HP:0100704	Cerebral visual impairment	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	HP:0040284 - Very rare		61
HP:0000505	HP:0007663	Reduced visual acuity	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000505	HP:0007663	Reduced visual acuity	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000505	HP:0007663	Reduced visual acuity	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000505	HP:0007663	Reduced visual acuity	1	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked	.		38
HP:0000505	HP:0007663	Reduced visual acuity	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0000505	HP:0007663	Reduced visual acuity	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040283 - Occasional		18
HP:0000505	HP:0007663	Reduced visual acuity	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	HP:0040283 - Occasional		18
HP:0000505	HP:0001123	Visual field defect	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.		18
HP:0000505	HP:0007663	Reduced visual acuity	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.		109
HP:0000505	HP:0007663	Reduced visual acuity	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		109
HP:0000505	HP:0007663	Reduced visual acuity	1	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000505	HP:0007663	Reduced visual acuity	1	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity			109
HP:0000505	HP:0100704	Cerebral visual impairment	1	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0000505	HP:0100704	Cerebral visual impairment	1	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45	.		3
HP:0000505	HP:0100704	Cerebral visual impairment	1	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2	.		44
HP:0000505	HP:0000572	Visual loss	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional		160
HP:0000505	HP:0000572	Visual loss	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0000505	HP:0007663	Reduced visual acuity	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0000505	HP:0007663	Reduced visual acuity	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0000505	HP:0000572	Visual loss	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent		160
HP:0000505	HP:0007663	Reduced visual acuity	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0000505	HP:0100704	Cerebral visual impairment	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0000505	HP:0100704	Cerebral visual impairment	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0000505	HP:0100704	Cerebral visual impairment	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0000505	HP:0100704	Cerebral visual impairment	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0000505	HP:0007663	Reduced visual acuity	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0000505	HP:0000572	Visual loss	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent		137
HP:0000505	HP:0007663	Reduced visual acuity	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0000505	HP:0007663	Reduced visual acuity	1	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis			64
HP:0000505	HP:0007663	Reduced visual acuity	1	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17			64
HP:0000505	HP:0007663	Reduced visual acuity	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0000505	HP:0000572	Visual loss	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0000505	HP:0000572	Visual loss	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0000505	HP:0007663	Reduced visual acuity	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0000505	HP:0100704	Cerebral visual impairment	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0000505	HP:0100704	Cerebral visual impairment	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0000505	HP:0100704	Cerebral visual impairment	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0000505	HP:0100704	Cerebral visual impairment	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0000505	HP:0100704	Cerebral visual impairment	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional		6
HP:0000505	HP:0007663	Reduced visual acuity	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0000505	HP:0007663	Reduced visual acuity	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0000505	HP:0000572	Visual loss	1	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		16
HP:0000505	HP:0001123	Visual field defect	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0000505	HP:0007663	Reduced visual acuity	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0000505	HP:0000572	Visual loss	1	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		7
HP:0000505	HP:0000572	Visual loss	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare		101
HP:0000505	HP:0007663	Reduced visual acuity	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0000505	HP:0007663	Reduced visual acuity	1	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		39
HP:0000505	HP:0007663	Reduced visual acuity	1	GNAT1 CL E G H	2779	4393	OMIM:610444	Night blindness, congenital stationary, autosomal dominant 3			39
HP:0000505	HP:0001123	Visual field defect	1	GNAT1 CL E G H	2779	4393	OMIM:616389	Night blindness, congenital stationary, type 1G			39
HP:0000505	HP:0007663	Reduced visual acuity	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		19
HP:0000505	HP:0001123	Visual field defect	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0000505	HP:0100704	Cerebral visual impairment	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000505	HP:0100704	Cerebral visual impairment	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	HP:0040283 - Occasional		12
HP:0000505	HP:0007663	Reduced visual acuity	1	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		5
HP:0000505	HP:0007663	Reduced visual acuity	1	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0000505	HP:0007663	Reduced visual acuity	1	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0000505	HP:0001123	Visual field defect	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0000505	HP:0007663	Reduced visual acuity	1	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked			64
HP:0000505	HP:0007663	Reduced visual acuity	1	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		124
HP:0000505	HP:0007663	Reduced visual acuity	1	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E	.		124
HP:0000505	HP:0007663	Reduced visual acuity	1	GRHL2 CL E G H	79977	2799	OMIM:618031	Corneal dystrophy, posterior polymorphous, 4	.		33
HP:0000505	HP:0007663	Reduced visual acuity	1	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		33
HP:0000505	HP:0100704	Cerebral visual impairment	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000505	HP:0100704	Cerebral visual impairment	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040282 - Frequent		108
HP:0000505	HP:0100704	Cerebral visual impairment	1	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	HP:0040284 - Very rare		108
HP:0000505	HP:0100704	Cerebral visual impairment	1	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.		2
HP:0000505	HP:0007663	Reduced visual acuity	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000505	HP:0007663	Reduced visual acuity	1	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		4
HP:0000505	HP:0007663	Reduced visual acuity	1	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		63
HP:0000505	HP:0100704	Cerebral visual impairment	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0000505	HP:0007663	Reduced visual acuity	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		24
HP:0000505	HP:0000572	Visual loss	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		24
HP:0000505	HP:0000572	Visual loss	1	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3			24
HP:0000505	HP:0007663	Reduced visual acuity	1	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3	.		24
HP:0000505	HP:0007663	Reduced visual acuity	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0000505	HP:0000572	Visual loss	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		124
HP:0000505	HP:0007663	Reduced visual acuity	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		124
HP:0000505	HP:0007663	Reduced visual acuity	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.		124
HP:0000505	HP:0001123	Visual field defect	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000505	HP:0007663	Reduced visual acuity	1	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis			124
HP:0000505	HP:0007663	Reduced visual acuity	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0000505	HP:0007663	Reduced visual acuity	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0000505	HP:0100704	Cerebral visual impairment	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000505	HP:0007663	Reduced visual acuity	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000505	HP:0007663	Reduced visual acuity	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000505	HP:0000572	Visual loss	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		99
HP:0000505	HP:0001123	Visual field defect	1	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000505	HP:0000572	Visual loss	1	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000505	HP:0007663	Reduced visual acuity	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0000505	HP:0000572	Visual loss	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0000505	HP:0007663	Reduced visual acuity	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0000505	HP:0100704	Cerebral visual impairment	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0000505	HP:0007663	Reduced visual acuity	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0000505	HP:0007663	Reduced visual acuity	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0000505	HP:0001123	Visual field defect	1	HGSNAT CL E G H	138050	26527	OMIM:616544	Retinitis pigmentosa 73			86
HP:0000505	HP:0100704	Cerebral visual impairment	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000505	HP:0001123	Visual field defect	1	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79			11
HP:0000505	HP:0007663	Reduced visual acuity	1	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79	.		11
HP:0000505	HP:0001123	Visual field defect	1	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92			2
HP:0000505	HP:0000572	Visual loss	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040281 - Very frequent		4
HP:0000505	HP:0001123	Visual field defect	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0000505	HP:0007663	Reduced visual acuity	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0000505	HP:0000572	Visual loss	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0000505	HP:0001123	Visual field defect	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0000505	HP:0001123	Visual field defect	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0000505	HP:0000572	Visual loss	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0000505	HP:0007663	Reduced visual acuity	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0000505	HP:0000572	Visual loss	1	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1			262
HP:0000505	HP:0007663	Reduced visual acuity	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000505	HP:0007663	Reduced visual acuity	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0000505	HP:0007663	Reduced visual acuity	1	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000505	HP:0007663	Reduced visual acuity	1	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.		123
HP:0000505	HP:0007663	Reduced visual acuity	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.		105
HP:0000505	HP:0007663	Reduced visual acuity	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.		45
HP:0000505	HP:0007663	Reduced visual acuity	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0000505	HP:0000572	Visual loss	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0000505	HP:0000572	Visual loss	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0000505	HP:0000572	Visual loss	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000505	HP:0001123	Visual field defect	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent		16
HP:0000505	HP:0001123	Visual field defect	1	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.		16
HP:0000505	HP:0007663	Reduced visual acuity	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0000505	HP:0007663	Reduced visual acuity	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0000505	HP:0001123	Visual field defect	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0000505	HP:0007663	Reduced visual acuity	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0000505	HP:0001123	Visual field defect	1	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0000505	HP:0001123	Visual field defect	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000505	HP:0001123	Visual field defect	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000505	HP:0007663	Reduced visual acuity	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0000505	HP:0007663	Reduced visual acuity	1	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis			148
HP:0000505	HP:0007663	Reduced visual acuity	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0000505	HP:0000572	Visual loss	1	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0000505	HP:0007663	Reduced visual acuity	1	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0000505	HP:0001123	Visual field defect	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000505	HP:0000572	Visual loss	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.		148
HP:0000505	HP:0001123	Visual field defect	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0000505	HP:0007663	Reduced visual acuity	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0000505	HP:0007663	Reduced visual acuity	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0000505	HP:0007663	Reduced visual acuity	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0000505	HP:0007663	Reduced visual acuity	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0000505	HP:0007663	Reduced visual acuity	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0000505	HP:0007663	Reduced visual acuity	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0000505	HP:0007663	Reduced visual acuity	1	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0000505	HP:0000572	Visual loss	1	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0000505	HP:0000572	Visual loss	1	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000505	HP:0007663	Reduced visual acuity	1	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000505	HP:0007663	Reduced visual acuity	1	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis			52
HP:0000505	HP:0007663	Reduced visual acuity	1	IMPDH1 CL E G H	3614	6052	OMIM:613837	Leber congenital amaurosis 11	.		52
HP:0000505	HP:0007663	Reduced visual acuity	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0000505	HP:0001123	Visual field defect	1	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10			52
HP:0000505	HP:0007663	Reduced visual acuity	1	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	HP:0040284 - Very rare		52
HP:0000505	HP:0001123	Visual field defect	1	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		4
HP:0000505	HP:0007663	Reduced visual acuity	1	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4	.		4
HP:0000505	HP:0007663	Reduced visual acuity	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0000505	HP:0001123	Visual field defect	1	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		120
HP:0000505	HP:0007663	Reduced visual acuity	1	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5	.		120
HP:0000505	HP:0001123	Visual field defect	1	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5			120
HP:0000505	HP:0007663	Reduced visual acuity	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0000505	HP:0001123	Visual field defect	1	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56			120
HP:0000505	HP:0007663	Reduced visual acuity	1	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56			120
HP:0000505	HP:0000572	Visual loss	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		111
HP:0000505	HP:0007663	Reduced visual acuity	1	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	.		111
HP:0000505	HP:0000572	Visual loss	1	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0000505	HP:0007663	Reduced visual acuity	1	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis			61
HP:0000505	HP:0000572	Visual loss	1	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0000505	HP:0007663	Reduced visual acuity	1	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0000505	HP:0007663	Reduced visual acuity	1	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0000505	HP:0007663	Reduced visual acuity	1	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0000505	HP:0001123	Visual field defect	1	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities			3
HP:0000505	HP:0007663	Reduced visual acuity	1	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities			3
HP:0000505	HP:0001123	Visual field defect	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		57
HP:0000505	HP:0000572	Visual loss	1	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000505	HP:0100704	Cerebral visual impairment	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.		34
HP:0000505	HP:0007663	Reduced visual acuity	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000505	HP:0100704	Cerebral visual impairment	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent		34
HP:0000505	HP:0007663	Reduced visual acuity	1	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis			42
HP:0000505	HP:0007663	Reduced visual acuity	1	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16	.		42
HP:0000505	HP:0007663	Reduced visual acuity	1	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000505	HP:0007663	Reduced visual acuity	1	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B			73
HP:0000505	HP:0001123	Visual field defect	1	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B			73
HP:0000505	HP:0000572	Visual loss	1	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	HP:0040283 - Occasional		106
HP:0000505	HP:0007663	Reduced visual acuity	1	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2			8
HP:0000505	HP:0000572	Visual loss	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0000505	HP:0007663	Reduced visual acuity	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0000505	HP:0000572	Visual loss	1	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0000505	HP:0007663	Reduced visual acuity	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000505	HP:0007663	Reduced visual acuity	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0000505	HP:0007663	Reduced visual acuity	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0000505	HP:0000572	Visual loss	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0000505	HP:0007663	Reduced visual acuity	1	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0000505	HP:0100704	Cerebral visual impairment	1	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	HP:0040283 - Occasional		276
HP:0000505	HP:0000572	Visual loss	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		276
HP:0000505	HP:0007663	Reduced visual acuity	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040284 - Very rare		38
HP:0000505	HP:0001123	Visual field defect	1	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0000505	HP:0100704	Cerebral visual impairment	1	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.		93
HP:0000505	HP:0007663	Reduced visual acuity	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0000505	HP:0001123	Visual field defect	1	KIZ CL E G H	55857	15865	OMIM:615780	Retinitis pigmentosa 69			3
HP:0000505	HP:0007663	Reduced visual acuity	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0000505	HP:0007663	Reduced visual acuity	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0000505	HP:0100704	Cerebral visual impairment	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000505	HP:0001123	Visual field defect	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0000505	HP:0007663	Reduced visual acuity	1	KRT12 CL E G H	3859	6414	OMIM:122100	Meesmann corneal dystrophy 1	.		22
HP:0000505	HP:0007663	Reduced visual acuity	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0000505	HP:0007663	Reduced visual acuity	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0000505	HP:0007663	Reduced visual acuity	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000505	HP:0000572	Visual loss	1	LAMC3 CL E G H	10319	6494	OMIM:614115	Cortical malformations, occipital	.		114
HP:0000505	HP:0007663	Reduced visual acuity	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000505	HP:0007663	Reduced visual acuity	1	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis			70
HP:0000505	HP:0000572	Visual loss	1	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5	.	HP:0003577 - Congenital onset	70
HP:0000505	HP:0001123	Visual field defect	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000505	HP:0007663	Reduced visual acuity	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		70
HP:0000505	HP:0007663	Reduced visual acuity	1	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types			16
HP:0000505	HP:0007663	Reduced visual acuity	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000505	HP:0100704	Cerebral visual impairment	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0000505	HP:0007663	Reduced visual acuity	1	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type	.
HP:0000505	HP:0001123	Visual field defect	1	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type
HP:0000505	HP:0007663	Reduced visual acuity	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0000505	HP:0007663	Reduced visual acuity	1	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0000505	HP:0007663	Reduced visual acuity	1	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis			62
HP:0000505	HP:0007663	Reduced visual acuity	1	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0000505	HP:0001123	Visual field defect	1	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa			62
HP:0000505	HP:0007663	Reduced visual acuity	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0000505	HP:0001123	Visual field defect	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000505	HP:0007663	Reduced visual acuity	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		62
HP:0000505	HP:0007663	Reduced visual acuity	1	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		54
HP:0000505	HP:0000572	Visual loss	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000505	HP:0000572	Visual loss	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000505	HP:0007663	Reduced visual acuity	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.		125
HP:0000505	HP:0007663	Reduced visual acuity	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.		125
HP:0000505	HP:0007663	Reduced visual acuity	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		125
HP:0000505	HP:0007663	Reduced visual acuity	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0000505	HP:0007663	Reduced visual acuity	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0000505	HP:0007663	Reduced visual acuity	1	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity			125
HP:0000505	HP:0007663	Reduced visual acuity	1	LRPAP1 CL E G H	4043	6701	OMIM:615431	Myopia 23, autosomal recessive	.		4
HP:0000505	HP:0000572	Visual loss	1	LSS CL E G H	4047	6708	OMIM:616509	Cataract 44	.		2
HP:0000505	HP:0000572	Visual loss	1	LTBP2 CL E G H	4053	6715	ORPHA:98976	Congenital glaucoma	HP:0040283 - Occasional		123
HP:0000505	HP:0000572	Visual loss	1	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		123
HP:0000505	HP:0007663	Reduced visual acuity	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent		239
HP:0000505	HP:0007663	Reduced visual acuity	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000505	HP:0100704	Cerebral visual impairment	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0000505	HP:0100704	Cerebral visual impairment	1	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			2
HP:0000505	HP:0007663	Reduced visual acuity	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000505	HP:0007663	Reduced visual acuity	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.		4
HP:0000505	HP:0007663	Reduced visual acuity	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0000505	HP:0007663	Reduced visual acuity	1	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62			53
HP:0000505	HP:0001123	Visual field defect	1	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62	.		53
HP:0000505	HP:0007663	Reduced visual acuity	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0000505	HP:0100704	Cerebral visual impairment	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	HP:0040284 - Very rare
HP:0000505	HP:0007663	Reduced visual acuity	1	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3	.		1
HP:0000505	HP:0007663	Reduced visual acuity	1	MARK3 CL E G H	4140	6897	OMIM:618283	Visual impairment and progressive phthisis bulbi	.
HP:0000505	HP:0007663	Reduced visual acuity	1	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.		124
HP:0000505	HP:0007663	Reduced visual acuity	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		124
HP:0000505	HP:0007663	Reduced visual acuity	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0000505	HP:0007663	Reduced visual acuity	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0000505	HP:0007663	Reduced visual acuity	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000505	HP:0007663	Reduced visual acuity	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0000505	HP:0007663	Reduced visual acuity	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000505	HP:0001123	Visual field defect	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000505	HP:0000572	Visual loss	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000505	HP:0007663	Reduced visual acuity	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0000505	HP:0001123	Visual field defect	1	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38			75
HP:0000505	HP:0000572	Visual loss	1	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38			75
HP:0000505	HP:0000572	Visual loss	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000505	HP:0001123	Visual field defect	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000505	HP:0007663	Reduced visual acuity	1	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.		26
HP:0000505	HP:0000572	Visual loss	1	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.		120
HP:0000505	HP:0007663	Reduced visual acuity	1	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7			120
HP:0000505	HP:0001123	Visual field defect	1	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement			120
HP:0000505	HP:0007663	Reduced visual acuity	1	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement	.		120
HP:0000505	HP:0007663	Reduced visual acuity	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0000505	HP:0007663	Reduced visual acuity	1	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome	.		1
HP:0000505	HP:0007663	Reduced visual acuity	1	MIR204 CL E G H	406987	31582	OMIM:616722	Retinal dystrophy and iris coloboma with or without congenital cataract	.		1
HP:0000505	HP:0000572	Visual loss	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		127
HP:0000505	HP:0001123	Visual field defect	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0000505	HP:0001123	Visual field defect	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0000505	HP:0007663	Reduced visual acuity	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000505	HP:0007663	Reduced visual acuity	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0000505	HP:0000572	Visual loss	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0000505	HP:0001123	Visual field defect	1	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies	.		2
HP:0000505	HP:0007663	Reduced visual acuity	1	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies	.		2
HP:0000505	HP:0001123	Visual field defect	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		97
HP:0000505	HP:0001123	Visual field defect	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0000505	HP:0001123	Visual field defect	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0000505	HP:0001123	Visual field defect	1	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	HP:0040283 - Occasional		45
HP:0000505	HP:0007663	Reduced visual acuity	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional		29
HP:0000505	HP:0100704	Cerebral visual impairment	1	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	HP:0040284 - Very rare
HP:0000505	HP:0001123	Visual field defect	1	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly			68
HP:0000505	HP:0007663	Reduced visual acuity	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0000505	HP:0007663	Reduced visual acuity	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0000505	HP:0001123	Visual field defect	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040282 - Frequent
HP:0000505	HP:0001123	Visual field defect	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0000505	HP:0007663	Reduced visual acuity	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	HP:0040283 - Occasional
HP:0000505	HP:0007663	Reduced visual acuity	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0000505	HP:0000572	Visual loss	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0000505	HP:0007663	Reduced visual acuity	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0000505	HP:0001123	Visual field defect	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0000505	HP:0001123	Visual field defect	1	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000505	HP:0000572	Visual loss	1	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0000505	HP:0001123	Visual field defect	1	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000505	HP:0000572	Visual loss	1	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		516
HP:0000505	HP:0000572	Visual loss	1	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I	.		516
HP:0000505	HP:0000572	Visual loss	1	MYOC CL E G H	4653	7610	ORPHA:98976	Congenital glaucoma	HP:0040283 - Occasional		47
HP:0000505	HP:0001123	Visual field defect	1	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma			47
HP:0000505	HP:0007663	Reduced visual acuity	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000505	HP:0100704	Cerebral visual impairment	1	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.		14
HP:0000505	HP:0100704	Cerebral visual impairment	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent		14
HP:0000505	HP:0100704	Cerebral visual impairment	1	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040281 - Very frequent		47
HP:0000505	HP:0100704	Cerebral visual impairment	1	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.		47
HP:0000505	HP:0100704	Cerebral visual impairment	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0000505	HP:0007663	Reduced visual acuity	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.		25
HP:0000505	HP:0000572	Visual loss	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0000505	HP:0007663	Reduced visual acuity	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0000505	HP:0000572	Visual loss	1	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0001123	Visual field defect	1	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0001123	Visual field defect	1	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000572	Visual loss	1	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0000572	Visual loss	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000505	HP:0001123	Visual field defect	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0100704	Cerebral visual impairment	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0007663	Reduced visual acuity	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0000505	HP:0000572	Visual loss	1	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0001123	Visual field defect	1	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0001123	Visual field defect	1	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000572	Visual loss	1	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0007663	Reduced visual acuity	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0000505	HP:0001123	Visual field defect	1	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000572	Visual loss	1	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0001123	Visual field defect	1	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000572	Visual loss	1	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0000572	Visual loss	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000505	HP:0000572	Visual loss	1	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0001123	Visual field defect	1	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000572	Visual loss	1	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0001123	Visual field defect	1	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0001123	Visual field defect	1	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000572	Visual loss	1	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000572	Visual loss	1	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0001123	Visual field defect	1	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000572	Visual loss	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000505	HP:0100704	Cerebral visual impairment	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0001123	Visual field defect	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000572	Visual loss	1	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0001123	Visual field defect	1	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000572	Visual loss	1	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0001123	Visual field defect	1	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000572	Visual loss	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000505	HP:0100704	Cerebral visual impairment	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0001123	Visual field defect	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0007663	Reduced visual acuity	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000505	HP:0007663	Reduced visual acuity	1	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked	.		39
HP:0000505	HP:0007663	Reduced visual acuity	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		39
HP:0000505	HP:0007663	Reduced visual acuity	1	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000505	HP:0007663	Reduced visual acuity	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000505	HP:0007663	Reduced visual acuity	1	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000505	HP:0007663	Reduced visual acuity	1	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity			39
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0000505	HP:0000572	Visual loss	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0000505	HP:0001123	Visual field defect	1	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy			65
HP:0000505	HP:0000572	Visual loss	1	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy			65
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0000505	HP:0007663	Reduced visual acuity	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0000505	HP:0007663	Reduced visual acuity	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0000505	HP:0000572	Visual loss	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional		43
HP:0000505	HP:0000572	Visual loss	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0000505	HP:0000572	Visual loss	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0000505	HP:0000572	Visual loss	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0000505	HP:0100704	Cerebral visual impairment	1	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0000505	HP:0007663	Reduced visual acuity	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000505	HP:0000572	Visual loss	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000505	HP:0007663	Reduced visual acuity	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000505	HP:0001123	Visual field defect	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000505	HP:0000572	Visual loss	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000505	HP:0007663	Reduced visual acuity	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040282 - Frequent		220
HP:0000505	HP:0000572	Visual loss	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0000505	HP:0007663	Reduced visual acuity	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000505	HP:0000572	Visual loss	1	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.		77
HP:0000505	HP:0007663	Reduced visual acuity	1	NHS CL E G H	4810	7820	OMIM:302200	Cataract, congenital total, with posterior sutural opacities in heterozygotes			88
HP:0000505	HP:0000572	Visual loss	1	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.		88
HP:0000505	HP:0000572	Visual loss	1	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040281 - Very frequent		88
HP:0000505	HP:0007663	Reduced visual acuity	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0000505	HP:0007663	Reduced visual acuity	1	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis			15
HP:0000505	HP:0007663	Reduced visual acuity	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000505	HP:0000572	Visual loss	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional		187
HP:0000505	HP:0100704	Cerebral visual impairment	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0000505	HP:0100704	Cerebral visual impairment	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0000505	HP:0100704	Cerebral visual impairment	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0000505	HP:0100704	Cerebral visual impairment	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0000505	HP:0007663	Reduced visual acuity	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000505	HP:0000572	Visual loss	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	HP:0040283 - Occasional		144
HP:0000505	HP:0000572	Visual loss	1	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0000505	HP:0000572	Visual loss	1	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0000505	HP:0000572	Visual loss	1	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0000505	HP:0007663	Reduced visual acuity	1	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4			220
HP:0000505	HP:0007663	Reduced visual acuity	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0000505	HP:0100704	Cerebral visual impairment	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0000505	HP:0007663	Reduced visual acuity	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0000505	HP:0001123	Visual field defect	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0000505	HP:0100704	Cerebral visual impairment	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0000505	HP:0007663	Reduced visual acuity	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040282 - Frequent		37
HP:0000505	HP:0001123	Visual field defect	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0000505	HP:0001123	Visual field defect	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0000505	HP:0007663	Reduced visual acuity	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0000505	HP:0007663	Reduced visual acuity	1	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27			30
HP:0000505	HP:0007663	Reduced visual acuity	1	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0000505	HP:0007663	Reduced visual acuity	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0000505	HP:0007663	Reduced visual acuity	1	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		42
HP:0000505	HP:0007663	Reduced visual acuity	1	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000505	HP:0000572	Visual loss	1	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000505	HP:0001123	Visual field defect	1	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000505	HP:0007663	Reduced visual acuity	1	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency			94
HP:0000505	HP:0007663	Reduced visual acuity	1	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.		121
HP:0000505	HP:0007663	Reduced visual acuity	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		121
HP:0000505	HP:0007663	Reduced visual acuity	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0000505	HP:0007663	Reduced visual acuity	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000505	HP:0007663	Reduced visual acuity	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0000505	HP:0001123	Visual field defect	1	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000505	HP:0007663	Reduced visual acuity	1	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000505	HP:0007663	Reduced visual acuity	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000505	HP:0000572	Visual loss	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000505	HP:0001123	Visual field defect	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000505	HP:0007663	Reduced visual acuity	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000505	HP:0001123	Visual field defect	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000505	HP:0000572	Visual loss	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0000505	HP:0007663	Reduced visual acuity	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0000505	HP:0007663	Reduced visual acuity	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.		214
HP:0000505	HP:0001123	Visual field defect	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000505	HP:0001123	Visual field defect	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000505	HP:0007663	Reduced visual acuity	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000505	HP:0007663	Reduced visual acuity	1	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III	.		163
HP:0000505	HP:0007663	Reduced visual acuity	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040281 - Very frequent		163
HP:0000505	HP:0001123	Visual field defect	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0000505	HP:0001123	Visual field defect	1	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3			163
HP:0000505	HP:0007663	Reduced visual acuity	1	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3			163
HP:0000505	HP:0007663	Reduced visual acuity	1	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	.		7
HP:0000505	HP:0007663	Reduced visual acuity	1	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	.		5
HP:0000505	HP:0007663	Reduced visual acuity	1	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia	HP:0040283 - Occasional		3
HP:0000505	HP:0007663	Reduced visual acuity	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0000505	HP:0007663	Reduced visual acuity	1	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		4
HP:0000505	HP:0007663	Reduced visual acuity	1	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration			5
HP:0000505	HP:0001123	Visual field defect	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000505	HP:0000572	Visual loss	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000505	HP:0007663	Reduced visual acuity	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000505	HP:0100704	Cerebral visual impairment	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0000505	HP:0000572	Visual loss	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent
HP:0000505	HP:0007663	Reduced visual acuity	1	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration			55
HP:0000505	HP:0007663	Reduced visual acuity	1	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0000505	HP:0007663	Reduced visual acuity	1	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0000505	HP:0100704	Cerebral visual impairment	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75	.		14
HP:0000505	HP:0007663	Reduced visual acuity	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000505	HP:0007663	Reduced visual acuity	1	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.		194
HP:0000505	HP:0007663	Reduced visual acuity	1	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040282 - Frequent		194
HP:0000505	HP:0007663	Reduced visual acuity	1	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0000505	HP:0000572	Visual loss	1	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		194
HP:0000505	HP:0007663	Reduced visual acuity	1	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040281 - Very frequent		194
HP:0000505	HP:0007663	Reduced visual acuity	1	PAX6 CL E G H	5080	8620	ORPHA:35737	Morning glory disc anomaly			194
HP:0000505	HP:0007663	Reduced visual acuity	1	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL			194
HP:0000505	HP:0007663	Reduced visual acuity	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0000505	HP:0001123	Visual field defect	1	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000505	HP:0000572	Visual loss	1	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0000505	HP:0007663	Reduced visual acuity	1	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis			11
HP:0000505	HP:0000572	Visual loss	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0000505	HP:0007663	Reduced visual acuity	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0000505	HP:0007663	Reduced visual acuity	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0000505	HP:0001123	Visual field defect	1	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0000505	HP:0007663	Reduced visual acuity	1	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		126
HP:0000505	HP:0007663	Reduced visual acuity	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0000505	HP:0001123	Visual field defect	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0000505	HP:0007663	Reduced visual acuity	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		80
HP:0000505	HP:0007663	Reduced visual acuity	1	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4	.		80
HP:0000505	HP:0001123	Visual field defect	1	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa			18
HP:0000505	HP:0007663	Reduced visual acuity	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0000505	HP:0007663	Reduced visual acuity	1	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0000505	HP:0001123	Visual field defect	1	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0000505	HP:0001123	Visual field defect	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0000505	HP:0007663	Reduced visual acuity	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		14
HP:0000505	HP:0007663	Reduced visual acuity	1	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A	.		14
HP:0000505	HP:0000572	Visual loss	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000505	HP:0007663	Reduced visual acuity	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000505	HP:0001123	Visual field defect	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000505	HP:0007663	Reduced visual acuity	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0000505	HP:0100704	Cerebral visual impairment	1	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3	.		54
HP:0000505	HP:0100704	Cerebral visual impairment	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0000505	HP:0001123	Visual field defect	1	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000505	HP:0000572	Visual loss	1	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		40
HP:0000505	HP:0007663	Reduced visual acuity	1	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000505	HP:0100704	Cerebral visual impairment	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000505	HP:0001123	Visual field defect	1	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0000505	HP:0001123	Visual field defect	1	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0000505	HP:0001123	Visual field defect	1	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0000505	HP:0001123	Visual field defect	1	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0000505	HP:0001123	Visual field defect	1	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0000505	HP:0000572	Visual loss	1	PEX13 CL E G H	5194	8855	OMIM:614885	Peroxisome biogenesis disorder 11B	.		66
HP:0000505	HP:0001123	Visual field defect	1	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0000505	HP:0001123	Visual field defect	1	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0000505	HP:0001123	Visual field defect	1	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0000505	HP:0001123	Visual field defect	1	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0000505	HP:0001123	Visual field defect	1	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0000505	HP:0001123	Visual field defect	1	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0000505	HP:0001123	Visual field defect	1	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0000505	HP:0007663	Reduced visual acuity	1	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0000505	HP:0001123	Visual field defect	1	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0000505	HP:0000572	Visual loss	1	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0000505	HP:0100704	Cerebral visual impairment	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000505	HP:0007663	Reduced visual acuity	1	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0000505	HP:0000572	Visual loss	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	HP:0040283 - Occasional		21
HP:0000505	HP:0100704	Cerebral visual impairment	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional		37
HP:0000505	HP:0007663	Reduced visual acuity	1	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000505	HP:0000572	Visual loss	1	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0000505	HP:0007663	Reduced visual acuity	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0000505	HP:0100704	Cerebral visual impairment	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0000505	HP:0100704	Cerebral visual impairment	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0000505	HP:0007663	Reduced visual acuity	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000505	HP:0007663	Reduced visual acuity	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000505	HP:0100704	Cerebral visual impairment	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.		2
HP:0000505	HP:0100704	Cerebral visual impairment	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000505	HP:0100704	Cerebral visual impairment	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000505	HP:0100704	Cerebral visual impairment	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040281 - Very frequent		12
HP:0000505	HP:0100704	Cerebral visual impairment	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000505	HP:0100704	Cerebral visual impairment	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000505	HP:0100704	Cerebral visual impairment	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6	.		2
HP:0000505	HP:0001123	Visual field defect	1	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly			162
HP:0000505	HP:0001123	Visual field defect	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0000505	HP:0000572	Visual loss	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000505	HP:0007663	Reduced visual acuity	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000505	HP:0001123	Visual field defect	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000505	HP:0007663	Reduced visual acuity	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0000505	HP:0007663	Reduced visual acuity	1	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5	.		135
HP:0000505	HP:0001123	Visual field defect	1	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5			135
HP:0000505	HP:0007663	Reduced visual acuity	1	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea			51
HP:0000505	HP:0007663	Reduced visual acuity	1	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types			6
HP:0000505	HP:0007663	Reduced visual acuity	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0000505	HP:0000572	Visual loss	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.		133
HP:0000505	HP:0100704	Cerebral visual impairment	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0000505	HP:0007663	Reduced visual acuity	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included			11
HP:0000505	HP:0007663	Reduced visual acuity	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0000505	HP:0000572	Visual loss	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	HP:0040284 - Very rare
HP:0000505	HP:0001123	Visual field defect	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0000505	HP:0001123	Visual field defect	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0000505	HP:0000572	Visual loss	1	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0000505	HP:0007663	Reduced visual acuity	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.		60
HP:0000505	HP:0007663	Reduced visual acuity	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent		60
HP:0000505	HP:0001123	Visual field defect	1	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20			3
HP:0000505	HP:0007663	Reduced visual acuity	1	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	.		3
HP:0000505	HP:0007663	Reduced visual acuity	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000505	HP:0000572	Visual loss	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0000505	HP:0007663	Reduced visual acuity	1	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome			464
HP:0000505	HP:0100704	Cerebral visual impairment	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		464
HP:0000505	HP:0100704	Cerebral visual impairment	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0000505	HP:0000572	Visual loss	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0000505	HP:0100704	Cerebral visual impairment	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		45
HP:0000505	HP:0000572	Visual loss	1	POLG2 CL E G H	11232	9180	OMIM:619425	MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B			45
HP:0000505	HP:0100704	Cerebral visual impairment	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	HP:0040283 - Occasional		45
HP:0000505	HP:0100704	Cerebral visual impairment	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000505	HP:0007663	Reduced visual acuity	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000505	HP:0007663	Reduced visual acuity	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0000505	HP:0007663	Reduced visual acuity	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0000505	HP:0001123	Visual field defect	1	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0000505	HP:0007663	Reduced visual acuity	1	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0000505	HP:0007663	Reduced visual acuity	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0000505	HP:0007663	Reduced visual acuity	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.		18
HP:0000505	HP:0007663	Reduced visual acuity	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0000505	HP:0007663	Reduced visual acuity	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000505	HP:0007663	Reduced visual acuity	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0000505	HP:0007663	Reduced visual acuity	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000505	HP:0007663	Reduced visual acuity	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000505	HP:0001123	Visual field defect	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000505	HP:0007663	Reduced visual acuity	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000505	HP:0100704	Cerebral visual impairment	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0000505	HP:0100704	Cerebral visual impairment	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent		13
HP:0000505	HP:0100704	Cerebral visual impairment	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	HP:0040284 - Very rare		2
HP:0000505	HP:0000572	Visual loss	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0000505	HP:0007663	Reduced visual acuity	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0000505	HP:0007663	Reduced visual acuity	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000505	HP:0007663	Reduced visual acuity	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0000505	HP:0000572	Visual loss	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		58
HP:0000505	HP:0007663	Reduced visual acuity	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000505	HP:0007663	Reduced visual acuity	1	PRIMPOL CL E G H	201973	26575	OMIM:615420	Myopia 22, autosomal dominant	.		1
HP:0000505	HP:0001123	Visual field defect	1	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000505	HP:0007663	Reduced visual acuity	1	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000505	HP:0001123	Visual field defect	1	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2			110
HP:0000505	HP:0007663	Reduced visual acuity	1	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2	.		110
HP:0000505	HP:0007663	Reduced visual acuity	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0000505	HP:0001123	Visual field defect	1	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000505	HP:0007663	Reduced visual acuity	1	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000505	HP:0001123	Visual field defect	1	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease			110
HP:0000505	HP:0007663	Reduced visual acuity	1	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040280 - Obligate		110
HP:0000505	HP:0007663	Reduced visual acuity	1	PROM1 CL E G H	8842	9454	OMIM:603786	Stargardt disease 4	.		110
HP:0000505	HP:0001123	Visual field defect	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000505	HP:0007663	Reduced visual acuity	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive			75
HP:0000505	HP:0007663	Reduced visual acuity	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0000505	HP:0001123	Visual field defect	1	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18			28
HP:0000505	HP:0007663	Reduced visual acuity	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0000505	HP:0007663	Reduced visual acuity	1	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0000505	HP:0001123	Visual field defect	1	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0000505	HP:0007663	Reduced visual acuity	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0000505	HP:0007663	Reduced visual acuity	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0000505	HP:0007663	Reduced visual acuity	1	PRPF6 CL E G H	24148	15860	OMIM:613983	Retinitis pigmentosa 60	.		51
HP:0000505	HP:0007663	Reduced visual acuity	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0000505	HP:0001123	Visual field defect	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13			94
HP:0000505	HP:0001123	Visual field defect	1	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		159
HP:0000505	HP:0000572	Visual loss	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		159
HP:0000505	HP:0007663	Reduced visual acuity	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		159
HP:0000505	HP:0007663	Reduced visual acuity	1	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	.		159
HP:0000505	HP:0007663	Reduced visual acuity	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0000505	HP:0001123	Visual field defect	1	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7			159
HP:0000505	HP:0001123	Visual field defect	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000505	HP:0000572	Visual loss	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000505	HP:0007663	Reduced visual acuity	1	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040280 - Obligate		159
HP:0000505	HP:0001123	Visual field defect	1	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease			159
HP:0000505	HP:0000572	Visual loss	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0000505	HP:0000572	Visual loss	1	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0000505	HP:0007663	Reduced visual acuity	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0000505	HP:0007663	Reduced visual acuity	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000505	HP:0001123	Visual field defect	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000505	HP:0100704	Cerebral visual impairment	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0000505	HP:0007663	Reduced visual acuity	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0000505	HP:0000572	Visual loss	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0000505	HP:0007663	Reduced visual acuity	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		81
HP:0000505	HP:0007663	Reduced visual acuity	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		81
HP:0000505	HP:0007663	Reduced visual acuity	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		81
HP:0000505	HP:0100704	Cerebral visual impairment	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000505	HP:0100704	Cerebral visual impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0000505	HP:0100704	Cerebral visual impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0000505	HP:0100704	Cerebral visual impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0000505	HP:0100704	Cerebral visual impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0000505	HP:0000572	Visual loss	1	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000505	HP:0007663	Reduced visual acuity	1	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000505	HP:0000572	Visual loss	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000505	HP:0001123	Visual field defect	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000505	HP:0007663	Reduced visual acuity	1	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0000505	HP:0000572	Visual loss	1	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0000505	HP:0007663	Reduced visual acuity	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent		19
HP:0000505	HP:0007663	Reduced visual acuity	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000505	HP:0007663	Reduced visual acuity	1	PXDN CL E G H	7837	14966	OMIM:269400	Corneal opacification with other ocular anomalies			22
HP:0000505	HP:0100704	Cerebral visual impairment	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0000505	HP:0100704	Cerebral visual impairment	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		85
HP:0000505	HP:0100704	Cerebral visual impairment	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0000505	HP:0001123	Visual field defect	1	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18			6
HP:0000505	HP:0100704	Cerebral visual impairment	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		90
HP:0000505	HP:0100704	Cerebral visual impairment	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		135
HP:0000505	HP:0007663	Reduced visual acuity	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0000505	HP:0100704	Cerebral visual impairment	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0000505	HP:0001123	Visual field defect	1	RAX2 CL E G H	84839	18286	OMIM:620102				52
HP:0000505	HP:0007663	Reduced visual acuity	1	RAX2 CL E G H	84839	18286	OMIM:620102				52
HP:0000505	HP:0000572	Visual loss	1	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11			52
HP:0000505	HP:0001123	Visual field defect	1	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa			108
HP:0000505	HP:0007663	Reduced visual acuity	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0000505	HP:0007663	Reduced visual acuity	1	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66	.		108
HP:0000505	HP:0001123	Visual field defect	1	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66			108
HP:0000505	HP:0007663	Reduced visual acuity	1	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	.		8
HP:0000505	HP:0007663	Reduced visual acuity	1	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA			8
HP:0000505	HP:0007663	Reduced visual acuity	1	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis			95
HP:0000505	HP:0007663	Reduced visual acuity	1	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12			95
HP:0000505	HP:0000572	Visual loss	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0000505	HP:0001123	Visual field defect	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0000505	HP:0007663	Reduced visual acuity	1	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis			45
HP:0000505	HP:0007663	Reduced visual acuity	1	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13			45
HP:0000505	HP:0007663	Reduced visual acuity	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0000505	HP:0000572	Visual loss	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000505	HP:0001123	Visual field defect	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000505	HP:0007663	Reduced visual acuity	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0000505	HP:0007663	Reduced visual acuity	1	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77	.		5
HP:0000505	HP:0100704	Cerebral visual impairment	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0000505	HP:0007663	Reduced visual acuity	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0000505	HP:0007663	Reduced visual acuity	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0000505	HP:0001123	Visual field defect	1	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0000505	HP:0007663	Reduced visual acuity	1	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		107
HP:0000505	HP:0001123	Visual field defect	1	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1	.		107
HP:0000505	HP:0007663	Reduced visual acuity	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0000505	HP:0001123	Visual field defect	1	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4	.		107
HP:0000505	HP:0007663	Reduced visual acuity	1	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4			107
HP:0000505	HP:0000572	Visual loss	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000505	HP:0001123	Visual field defect	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000505	HP:0007663	Reduced visual acuity	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000505	HP:0007663	Reduced visual acuity	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000505	HP:0007663	Reduced visual acuity	1	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0000505	HP:0000572	Visual loss	1	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0000505	HP:0001123	Visual field defect	1	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040281 - Very frequent		47
HP:0000505	HP:0001123	Visual field defect	1	RLBP1 CL E G H	6017	10024	OMIM:607476	NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD			47
HP:0000505	HP:0007663	Reduced visual acuity	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0000505	HP:0000572	Visual loss	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000505	HP:0001123	Visual field defect	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000505	HP:0100704	Cerebral visual impairment	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000505	HP:0100704	Cerebral visual impairment	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0000505	HP:0001123	Visual field defect	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0000505	HP:0007663	Reduced visual acuity	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0000505	HP:0001123	Visual field defect	1	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa			38
HP:0000505	HP:0001123	Visual field defect	1	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7			38
HP:0000505	HP:0007663	Reduced visual acuity	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000505	HP:0007663	Reduced visual acuity	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0000505	HP:0007663	Reduced visual acuity	1	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0000505	HP:0001123	Visual field defect	1	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0000505	HP:0000572	Visual loss	1	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0000505	HP:0007663	Reduced visual acuity	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0000505	HP:0007663	Reduced visual acuity	1	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0000505	HP:0007663	Reduced visual acuity	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0000505	HP:0001123	Visual field defect	1	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000505	HP:0007663	Reduced visual acuity	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0000505	HP:0001123	Visual field defect	1	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0000505	HP:0007663	Reduced visual acuity	1	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis			129
HP:0000505	HP:0007663	Reduced visual acuity	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II	.		129
HP:0000505	HP:0007663	Reduced visual acuity	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0000505	HP:0007663	Reduced visual acuity	1	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20			129
HP:0000505	HP:0001123	Visual field defect	1	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87			129
HP:0000505	HP:0007663	Reduced visual acuity	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		129
HP:0000505	HP:0001123	Visual field defect	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000505	HP:0001123	Visual field defect	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0000505	HP:0007663	Reduced visual acuity	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		200
HP:0000505	HP:0007663	Reduced visual acuity	1	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1			200
HP:0000505	HP:0007663	Reduced visual acuity	1	RPGR CL E G H	6103	10295	OMIM:300834	MACULAR DEGENERATION, X-LINKED ATROPHIC			200
HP:0000505	HP:0007663	Reduced visual acuity	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0000505	HP:0001123	Visual field defect	1	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000505	HP:0007663	Reduced visual acuity	1	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000505	HP:0007663	Reduced visual acuity	1	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0000505	HP:0007663	Reduced visual acuity	1	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis			109
HP:0000505	HP:0007663	Reduced visual acuity	1	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0000505	HP:0001123	Visual field defect	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0000505	HP:0007663	Reduced visual acuity	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0000505	HP:0100704	Cerebral visual impairment	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		125
HP:0000505	HP:0001123	Visual field defect	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000505	HP:0000572	Visual loss	1	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000505	HP:0001123	Visual field defect	1	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000505	HP:0007663	Reduced visual acuity	1	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000505	HP:0007663	Reduced visual acuity	1	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		32
HP:0000505	HP:0007663	Reduced visual acuity	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0000505	HP:0007663	Reduced visual acuity	1	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000505	HP:0007663	Reduced visual acuity	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000505	HP:0007663	Reduced visual acuity	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000505	HP:0007663	Reduced visual acuity	1	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa	.
HP:0000505	HP:0007663	Reduced visual acuity	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0000505	HP:0100704	Cerebral visual impairment	1	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)	.		1053
HP:0000505	HP:0001123	Visual field defect	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000505	HP:0007663	Reduced visual acuity	1	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3			1053
HP:0000505	HP:0100704	Cerebral visual impairment	1	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0000505	HP:0007663	Reduced visual acuity	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0000505	HP:0000572	Visual loss	1	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0000505	HP:0007663	Reduced visual acuity	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0000505	HP:0001123	Visual field defect	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000505	HP:0007663	Reduced visual acuity	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0000505	HP:0007663	Reduced visual acuity	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0000505	HP:0007663	Reduced visual acuity	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0000505	HP:0007663	Reduced visual acuity	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent
HP:0000505	HP:0100704	Cerebral visual impairment	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000505	HP:0007663	Reduced visual acuity	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000505	HP:0001123	Visual field defect	1	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10			48
HP:0000505	HP:0000572	Visual loss	1	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10			48
HP:0000505	HP:0001123	Visual field defect	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0000505	HP:0007663	Reduced visual acuity	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0000505	HP:0007663	Reduced visual acuity	1	SEMA4A CL E G H	64218	10729	OMIM:610282	Retinitis pigmentosa 35			48
HP:0000505	HP:0100704	Cerebral visual impairment	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		66
HP:0000505	HP:0007663	Reduced visual acuity	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		66
HP:0000505	HP:0001123	Visual field defect	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000505	HP:0000572	Visual loss	1	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		19
HP:0000505	HP:0007663	Reduced visual acuity	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000505	HP:0007663	Reduced visual acuity	1	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0000505	HP:0000572	Visual loss	1	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism			177
HP:0000505	HP:0001123	Visual field defect	1	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0000505	HP:0001123	Visual field defect	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000505	HP:0100704	Cerebral visual impairment	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000505	HP:0100704	Cerebral visual impairment	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0000505	HP:0100704	Cerebral visual impairment	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0000505	HP:0100704	Cerebral visual impairment	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0000505	HP:0100704	Cerebral visual impairment	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0000505	HP:0100704	Cerebral visual impairment	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000505	HP:0100704	Cerebral visual impairment	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000505	HP:0100704	Cerebral visual impairment	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0000505	HP:0100704	Cerebral visual impairment	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000505	HP:0000572	Visual loss	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0000505	HP:0000572	Visual loss	1	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040283 - Occasional		55
HP:0000505	HP:0007663	Reduced visual acuity	1	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6	HP:0040283 - Occasional		63
HP:0000505	HP:0007663	Reduced visual acuity	1	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		66
HP:0000505	HP:0007663	Reduced visual acuity	1	SLC24A1 CL E G H	9187	10975	OMIM:613830	Night blindness, congenital stationary, type 1D			66
HP:0000505	HP:0007663	Reduced visual acuity	1	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI	.		12
HP:0000505	HP:0007663	Reduced visual acuity	1	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6	HP:0040281 - Very frequent		12
HP:0000505	HP:0100704	Cerebral visual impairment	1	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	HP:0040283 - Occasional		28
HP:0000505	HP:0100704	Cerebral visual impairment	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		68
HP:0000505	HP:0001123	Visual field defect	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000505	HP:0000572	Visual loss	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000505	HP:0000572	Visual loss	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000505	HP:0100704	Cerebral visual impairment	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent		27
HP:0000505	HP:0007663	Reduced visual acuity	1	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	.		13
HP:0000505	HP:0007663	Reduced visual acuity	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.		5
HP:0000505	HP:0007663	Reduced visual acuity	1	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040281 - Very frequent		42
HP:0000505	HP:0007663	Reduced visual acuity	1	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II	HP:0040282 - Frequent		66
HP:0000505	HP:0007663	Reduced visual acuity	1	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness			66
HP:0000505	HP:0000572	Visual loss	1	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0000505	HP:0007663	Reduced visual acuity	1	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0000505	HP:0000572	Visual loss	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	HP:0040283 - Occasional		47
HP:0000505	HP:0001123	Visual field defect	1	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000505	HP:0007663	Reduced visual acuity	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0000505	HP:0001123	Visual field defect	1	SLC7A14 CL E G H	57709	29326	OMIM:615725	Retinitis pigmentosa 68	.		4
HP:0000505	HP:0007663	Reduced visual acuity	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0000505	HP:0007663	Reduced visual acuity	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0000505	HP:0000572	Visual loss	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000505	HP:0007663	Reduced visual acuity	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000505	HP:0001123	Visual field defect	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000505	HP:0007663	Reduced visual acuity	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000505	HP:0001123	Visual field defect	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000505	HP:0000572	Visual loss	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000505	HP:0100704	Cerebral visual impairment	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0000505	HP:0007663	Reduced visual acuity	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome			174
HP:0000505	HP:0000572	Visual loss	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040282 - Frequent		174
HP:0000505	HP:0007663	Reduced visual acuity	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0000505	HP:0000572	Visual loss	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000505	HP:0007663	Reduced visual acuity	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000505	HP:0001123	Visual field defect	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000505	HP:0007663	Reduced visual acuity	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0000505	HP:0100704	Cerebral visual impairment	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0000505	HP:0007663	Reduced visual acuity	1	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0000505	HP:0100704	Cerebral visual impairment	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000505	HP:0000572	Visual loss	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000505	HP:0100704	Cerebral visual impairment	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome	.		12
HP:0000505	HP:0000572	Visual loss	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0000505	HP:0001123	Visual field defect	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0000505	HP:0000572	Visual loss	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0000505	HP:0000572	Visual loss	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040282 - Frequent		33
HP:0000505	HP:0100704	Cerebral visual impairment	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	HP:0040283 - Occasional		19
HP:0000505	HP:0100704	Cerebral visual impairment	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040282 - Frequent		19
HP:0000505	HP:0100704	Cerebral visual impairment	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000505	HP:0007663	Reduced visual acuity	1	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis			48
HP:0000505	HP:0001123	Visual field defect	1	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3			48
HP:0000505	HP:0000572	Visual loss	1	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3			48
HP:0000505	HP:0007663	Reduced visual acuity	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0000505	HP:0007663	Reduced visual acuity	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		48
HP:0000505	HP:0001123	Visual field defect	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000505	HP:0000572	Visual loss	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000505	HP:0100704	Cerebral visual impairment	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	.		3
HP:0000505	HP:0000572	Visual loss	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	HP:0040282 - Frequent		80
HP:0000505	HP:0000572	Visual loss	1	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040282 - Frequent		80
HP:0000505	HP:0007663	Reduced visual acuity	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0000505	HP:0100704	Cerebral visual impairment	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0000505	HP:0000572	Visual loss	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0000505	HP:0100704	Cerebral visual impairment	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000505	HP:0100704	Cerebral visual impairment	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000505	HP:0007663	Reduced visual acuity	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0000505	HP:0000572	Visual loss	1	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0000505	HP:0007663	Reduced visual acuity	1	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0000505	HP:0100704	Cerebral visual impairment	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0000505	HP:0100704	Cerebral visual impairment	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0000505	HP:0100704	Cerebral visual impairment	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0000505	HP:0100704	Cerebral visual impairment	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0000505	HP:0007663	Reduced visual acuity	1	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0000505	HP:0007663	Reduced visual acuity	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000505	HP:0000572	Visual loss	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000505	HP:0001123	Visual field defect	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000505	HP:0100704	Cerebral visual impairment	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0000505	HP:0007663	Reduced visual acuity	1	TACSTD2 CL E G H	4070	11530	OMIM:204870	Corneal dystrophy, gelatinous drop-like	.		42
HP:0000505	HP:0100704	Cerebral visual impairment	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000505	HP:0007663	Reduced visual acuity	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0000505	HP:0007663	Reduced visual acuity	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000505	HP:0000572	Visual loss	1	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040283 - Occasional		43
HP:0000505	HP:0100704	Cerebral visual impairment	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		15
HP:0000505	HP:0007663	Reduced visual acuity	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000505	HP:0000572	Visual loss	1	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	.		271
HP:0000505	HP:0007663	Reduced visual acuity	1	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040283 - Occasional
HP:0000505	HP:0100704	Cerebral visual impairment	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0000505	HP:0007663	Reduced visual acuity	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000505	HP:0000572	Visual loss	1	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0000505	HP:0007663	Reduced visual acuity	1	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0000505	HP:0007663	Reduced visual acuity	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0000505	HP:0000572	Visual loss	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.		140
HP:0000505	HP:0100704	Cerebral visual impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000505	HP:0100704	Cerebral visual impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0000505	HP:0100704	Cerebral visual impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0000505	HP:0100704	Cerebral visual impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000505	HP:0000572	Visual loss	1	TEK CL E G H	7010	11724	ORPHA:98976	Congenital glaucoma	HP:0040283 - Occasional		78
HP:0000505	HP:0100704	Cerebral visual impairment	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040282 - Frequent		12
HP:0000505	HP:0100704	Cerebral visual impairment	1	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	HP:0040283 - Occasional		12
HP:0000505	HP:0007663	Reduced visual acuity	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0000505	HP:0000572	Visual loss	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000505	HP:0007663	Reduced visual acuity	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000505	HP:0001123	Visual field defect	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000505	HP:0007663	Reduced visual acuity	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000505	HP:0000572	Visual loss	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive	.		18
HP:0000505	HP:0007663	Reduced visual acuity	1	TGFBI CL E G H	7045	11771	OMIM:607541	Corneal dystrophy, Avellino type	.		58
HP:0000505	HP:0007663	Reduced visual acuity	1	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane			58
HP:0000505	HP:0000572	Visual loss	1	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I			58
HP:0000505	HP:0007663	Reduced visual acuity	1	TGFBI CL E G H	7045	11771	OMIM:608471	Corneal dystrophy, lattice type IIIA	.		58
HP:0000505	HP:0007663	Reduced visual acuity	1	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type			58
HP:0000505	HP:0007663	Reduced visual acuity	1	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I			58
HP:0000505	HP:0007663	Reduced visual acuity	1	TGFBI CL E G H	7045	11771	ORPHA:98963	Granular corneal dystrophy type II			58
HP:0000505	HP:0000572	Visual loss	1	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040281 - Very frequent		58
HP:0000505	HP:0000572	Visual loss	1	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy			58
HP:0000505	HP:0001123	Visual field defect	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0000505	HP:0001123	Visual field defect	1	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent		1
HP:0000505	HP:0100704	Cerebral visual impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000505	HP:0100704	Cerebral visual impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000505	HP:0100704	Cerebral visual impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0000505	HP:0100704	Cerebral visual impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000505	HP:0001123	Visual field defect	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		23
HP:0000505	HP:0001123	Visual field defect	1	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent		2
HP:0000505	HP:0001123	Visual field defect	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000505	HP:0007663	Reduced visual acuity	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0000505	HP:0001123	Visual field defect	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0000505	HP:0100704	Cerebral visual impairment	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional		15
HP:0000505	HP:0000572	Visual loss	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional		15
HP:0000505	HP:0100704	Cerebral visual impairment	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0000505	HP:0007663	Reduced visual acuity	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0000505	HP:0007663	Reduced visual acuity	1	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy			95
HP:0000505	HP:0000572	Visual loss	1	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040281 - Very frequent		95
HP:0000505	HP:0001123	Visual field defect	1	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy			95
HP:0000505	HP:0007663	Reduced visual acuity	1	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy			95
HP:0000505	HP:0007663	Reduced visual acuity	1	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0000505	HP:0007663	Reduced visual acuity	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0000505	HP:0007663	Reduced visual acuity	1	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	.		23
HP:0000505	HP:0001123	Visual field defect	1	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000505	HP:0007663	Reduced visual acuity	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0000505	HP:0007663	Reduced visual acuity	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000505	HP:0007663	Reduced visual acuity	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000505	HP:0007663	Reduced visual acuity	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000505	HP:0007663	Reduced visual acuity	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000505	HP:0100704	Cerebral visual impairment	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000505	HP:0007663	Reduced visual acuity	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0000505	HP:0007663	Reduced visual acuity	1	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4	HP:0040283 - Occasional		3
HP:0000505	HP:0000572	Visual loss	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0000505	HP:0007663	Reduced visual acuity	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0000505	HP:0007663	Reduced visual acuity	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0000505	HP:0001123	Visual field defect	1	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31			61
HP:0000505	HP:0001123	Visual field defect	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0000505	HP:0000572	Visual loss	1	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2			203
HP:0000505	HP:0000572	Visual loss	1	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0000505	HP:0100704	Cerebral visual impairment	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	HP:0040284 - Very rare
HP:0000505	HP:0007663	Reduced visual acuity	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000505	HP:0001123	Visual field defect	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000505	HP:0000572	Visual loss	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000505	HP:0100704	Cerebral visual impairment	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040282 - Frequent		2
HP:0000505	HP:0100704	Cerebral visual impairment	1	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.		2
HP:0000505	HP:0100704	Cerebral visual impairment	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	HP:0040284 - Very rare
HP:0000505	HP:0001123	Visual field defect	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional		56
HP:0000505	HP:0000572	Visual loss	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0000505	HP:0000572	Visual loss	1	TRIM44 CL E G H	54765	19016	OMIM:617142	Aniridia 3			1
HP:0000505	HP:0000572	Visual loss	1	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		1
HP:0000505	HP:0007663	Reduced visual acuity	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0000505	HP:0001123	Visual field defect	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0100704	Cerebral visual impairment	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0000572	Visual loss	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000505	HP:0001123	Visual field defect	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0100704	Cerebral visual impairment	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0000572	Visual loss	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000505	HP:0001123	Visual field defect	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0100704	Cerebral visual impairment	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0000572	Visual loss	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000505	HP:0100704	Cerebral visual impairment	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0001123	Visual field defect	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0000572	Visual loss	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000505	HP:0001123	Visual field defect	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0100704	Cerebral visual impairment	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0000572	Visual loss	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000505	HP:0001123	Visual field defect	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0100704	Cerebral visual impairment	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0000572	Visual loss	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000505	HP:0001123	Visual field defect	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0100704	Cerebral visual impairment	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0000572	Visual loss	1	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000505	HP:0001123	Visual field defect	1	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000505	HP:0001123	Visual field defect	1	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0000505	HP:0001123	Visual field defect	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0100704	Cerebral visual impairment	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0000572	Visual loss	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000505	HP:0001123	Visual field defect	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000505	HP:0100704	Cerebral visual impairment	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0007663	Reduced visual acuity	1	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		104
HP:0000505	HP:0007663	Reduced visual acuity	1	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000505	HP:0100704	Cerebral visual impairment	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		3
HP:0000505	HP:0007663	Reduced visual acuity	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		3
HP:0000505	HP:0007663	Reduced visual acuity	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		84
HP:0000505	HP:0100704	Cerebral visual impairment	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		84
HP:0000505	HP:0100704	Cerebral visual impairment	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B			84
HP:0000505	HP:0007663	Reduced visual acuity	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		57
HP:0000505	HP:0100704	Cerebral visual impairment	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		57
HP:0000505	HP:0100704	Cerebral visual impairment	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		102
HP:0000505	HP:0007663	Reduced visual acuity	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		102
HP:0000505	HP:0007663	Reduced visual acuity	1	TSPAN12 CL E G H	23554	21641	OMIM:613310	Exudative vitreoretinopathy 5	HP:0040283 - Occasional		39
HP:0000505	HP:0007663	Reduced visual acuity	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		39
HP:0000505	HP:0007663	Reduced visual acuity	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0000505	HP:0007663	Reduced visual acuity	1	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.		41
HP:0000505	HP:0007663	Reduced visual acuity	1	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0000505	HP:0007663	Reduced visual acuity	1	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity	.		1
HP:0000505	HP:0007663	Reduced visual acuity	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0000505	HP:0007663	Reduced visual acuity	1	TUBA3D CL E G H	113457	24071	OMIM:617928	Keratoconus 9	.
HP:0000505	HP:0001123	Visual field defect	1	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation			39
HP:0000505	HP:0000572	Visual loss	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0000505	HP:0007663	Reduced visual acuity	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000505	HP:0007663	Reduced visual acuity	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000505	HP:0007663	Reduced visual acuity	1	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0000505	HP:0007663	Reduced visual acuity	1	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness	.
HP:0000505	HP:0100704	Cerebral visual impairment	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000505	HP:0007663	Reduced visual acuity	1	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3	.		14
HP:0000505	HP:0007663	Reduced visual acuity	1	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis			66
HP:0000505	HP:0001123	Visual field defect	1	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15			66
HP:0000505	HP:0007663	Reduced visual acuity	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0000505	HP:0007663	Reduced visual acuity	1	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000505	HP:0001123	Visual field defect	1	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000505	HP:0007663	Reduced visual acuity	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000505	HP:0100704	Cerebral visual impairment	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		113
HP:0000505	HP:0007663	Reduced visual acuity	1	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0000505	HP:0007663	Reduced visual acuity	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0000505	HP:0007663	Reduced visual acuity	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0000505	HP:0000572	Visual loss	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.		21
HP:0000505	HP:0007663	Reduced visual acuity	1	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0000505	HP:0007663	Reduced visual acuity	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0000505	HP:0007663	Reduced visual acuity	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0000505	HP:0001123	Visual field defect	1	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000505	HP:0000572	Visual loss	1	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0000505	HP:0000572	Visual loss	1	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I	.		173
HP:0000505	HP:0001123	Visual field defect	1	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000505	HP:0000572	Visual loss	1	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0000505	HP:0007663	Reduced visual acuity	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0000505	HP:0001123	Visual field defect	1	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39	.		777
HP:0000505	HP:0001123	Visual field defect	1	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000505	HP:0000572	Visual loss	1	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		777
HP:0000505	HP:0007663	Reduced visual acuity	1	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0000505	HP:0001123	Visual field defect	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0000505	HP:0001123	Visual field defect	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0000505	HP:0100704	Cerebral visual impairment	1	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0000505	HP:0000572	Visual loss	1	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	.		180
HP:0000505	HP:0001123	Visual field defect	1	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	.		180
HP:0000505	HP:0000572	Visual loss	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0000505	HP:0007663	Reduced visual acuity	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0000505	HP:0100704	Cerebral visual impairment	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12	.		1
HP:0000505	HP:0100704	Cerebral visual impairment	1	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040281 - Very frequent		1
HP:0000505	HP:0007663	Reduced visual acuity	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0000505	HP:0100704	Cerebral visual impairment	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000505	HP:0000572	Visual loss	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000505	HP:0007663	Reduced visual acuity	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000505	HP:0007663	Reduced visual acuity	1	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		47
HP:0000505	HP:0007663	Reduced visual acuity	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000505	HP:0000572	Visual loss	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional		20
HP:0000505	HP:0007663	Reduced visual acuity	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0000505	HP:0007663	Reduced visual acuity	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000505	HP:0007663	Reduced visual acuity	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000505	HP:0000572	Visual loss	1	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0000505	HP:0007663	Reduced visual acuity	1	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8	.		95
HP:0000505	HP:0007663	Reduced visual acuity	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0000505	HP:0007663	Reduced visual acuity	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0000505	HP:0001123	Visual field defect	1	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000505	HP:0007663	Reduced visual acuity	1	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000505	HP:0000572	Visual loss	1	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		155
HP:0000505	HP:0001123	Visual field defect	1	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000505	HP:0007663	Reduced visual acuity	1	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID			155
HP:0000505	HP:0007663	Reduced visual acuity	1	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0000505	HP:0007663	Reduced visual acuity	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0000505	HP:0007663	Reduced visual acuity	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0000505	HP:0000572	Visual loss	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040281 - Very frequent		5
HP:0000505	HP:0007663	Reduced visual acuity	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000505	HP:0001123	Visual field defect	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000505	HP:0100704	Cerebral visual impairment	1	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0000505	HP:0007663	Reduced visual acuity	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0000505	HP:0007663	Reduced visual acuity	1	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6			8
HP:0000505	HP:0007663	Reduced visual acuity	1	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0000505	HP:0000572	Visual loss	1	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0000505	HP:0007663	Reduced visual acuity	1	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		8
HP:0000505	HP:0007663	Reduced visual acuity	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000505	HP:0007663	Reduced visual acuity	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.		189
HP:0000505	HP:0100704	Cerebral visual impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0000505	HP:0100704	Cerebral visual impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0000505	HP:0100704	Cerebral visual impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0000505	HP:0100704	Cerebral visual impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0000505	HP:0007663	Reduced visual acuity	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000505	HP:0000572	Visual loss	1	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6			14
HP:0000505	HP:0007663	Reduced visual acuity	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		14
HP:0000505	HP:0007663	Reduced visual acuity	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0000505	HP:0001123	Visual field defect	1	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72			14
HP:0000505	HP:0007663	Reduced visual acuity	1	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72	.		14
HP:0000505	HP:0007663	Reduced visual acuity	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000505	HP:0000572	Visual loss	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0000505	HP:0000572	Visual loss	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		397
HP:0000505	HP:0007663	Reduced visual acuity	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0000505	HP:0001123	Visual field defect	1	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0000505	HP:0007663	Reduced visual acuity	1	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0000505	HP:0000572	Visual loss	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		1
HP:0000505	HP:0030531	Altitudinal visual field defect	2	CL E G H
HP:0000505	HP:0012377	Hemianopia	2	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000505	HP:0000575	Scotoma	2	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000505	HP:0000618	Blindness	2	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19			826
HP:0000505	HP:0000575	Scotoma	2	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease			826
HP:0000505	HP:0000618	Blindness	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0000505	HP:0000618	Blindness	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040284 - Very rare		135
HP:0000505	HP:0000575	Scotoma	2	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9			60
HP:0000505	HP:0000618	Blindness	2	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040282 - Frequent		72
HP:0000505	HP:0000646	Amblyopia	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		178
HP:0000505	HP:0000618	Blindness	2	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.		63
HP:0000505	HP:0000646	Amblyopia	2	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		84
HP:0000505	HP:0000575	Scotoma	2	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		530
HP:0000505	HP:0012377	Hemianopia	2	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		530
HP:0000505	HP:0000646	Amblyopia	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare		47
HP:0000505	HP:0000646	Amblyopia	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional		6
HP:0000505	HP:0000618	Blindness	2	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75			2
HP:0000505	HP:0000529	Progressive visual loss	2	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000505	HP:0000618	Blindness	2	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0000505	HP:0000618	Blindness	2	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000505	HP:0000618	Blindness	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0000505	HP:0001117	Sudden loss of visual acuity	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0000505	HP:0012377	Hemianopia	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0000505	HP:0000529	Progressive visual loss	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		95
HP:0000505	HP:0001141	Severely reduced visual acuity	2	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		114
HP:0000505	HP:0000618	Blindness	2	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.		114
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa	.		114
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000505	HP:0000618	Blindness	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0000505	HP:0012377	Hemianopia	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000505	HP:0030532	Visual acuity test abnormality	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0000505	HP:0030588	Abnormal visual field test	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000505	HP:0000529	Progressive visual loss	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000505	HP:0012377	Hemianopia	2	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		19
HP:0000505	HP:0001141	Severely reduced visual acuity	2	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0000505	HP:0000618	Blindness	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0000505	HP:0000618	Blindness	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency			44
HP:0000505	HP:0012377	Hemianopia	2	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0000505	HP:0000646	Amblyopia	2	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000505	HP:0000646	Amblyopia	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		49
HP:0000505	HP:0000646	Amblyopia	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		48
HP:0000505	HP:0000646	Amblyopia	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		41
HP:0000505	HP:0000646	Amblyopia	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		18
HP:0000505	HP:0030532	Visual acuity test abnormality	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0000505	HP:0000529	Progressive visual loss	2	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1			39
HP:0000505	HP:0000618	Blindness	2	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0000505	HP:0000646	Amblyopia	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0000505	HP:0000618	Blindness	2	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000505	HP:0000529	Progressive visual loss	2	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000505	HP:0000618	Blindness	2	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000505	HP:0000618	Blindness	2	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa	.		29
HP:0000505	HP:0000618	Blindness	2	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0000505	HP:0012377	Hemianopia	2	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000505	HP:0000575	Scotoma	2	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000505	HP:0000575	Scotoma	2	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000505	HP:0007854	Glaucomatous visual field defect	2	ASB10 CL E G H	136371	17185	OMIM:603383	GLAUCOMA 1, OPEN ANGLE, F; GLC1F			54
HP:0000505	HP:0000618	Blindness	2	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000505	HP:0000618	Blindness	2	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040283 - Occasional		48
HP:0000505	HP:0000575	Scotoma	2	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0000505	HP:0000575	Scotoma	2	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000505	HP:0000618	Blindness	2	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0000505	HP:0000618	Blindness	2	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0000505	HP:0000618	Blindness	2	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000505	HP:0000646	Amblyopia	2	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000505	HP:0032123	Ultra-low vision	2	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000505	HP:0000575	Scotoma	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		239
HP:0000505	HP:0000618	Blindness	2	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0000505	HP:0000529	Progressive visual loss	2	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0000505	HP:0000575	Scotoma	2	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000529	Progressive visual loss	2	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0030588	Abnormal visual field test	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000618	Blindness	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000618	Blindness	2	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0000505	HP:0000618	Blindness	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional		169
HP:0000505	HP:0000529	Progressive visual loss	2	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II	.		8
HP:0000505	HP:0000618	Blindness	2	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040283 - Occasional		8
HP:0000505	HP:0000618	Blindness	2	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.		43
HP:0000505	HP:0000646	Amblyopia	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0000505	HP:0000618	Blindness	2	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.		17
HP:0000505	HP:0000529	Progressive visual loss	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000505	HP:0000618	Blindness	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0000505	HP:0030588	Abnormal visual field test	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000505	HP:0012377	Hemianopia	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000505	HP:0030532	Visual acuity test abnormality	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000505	HP:0000618	Blindness	2	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0000505	HP:0000618	Blindness	2	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	BBS2 CL E G H	583	967	OMIM:616562	Retinitis pigmentosa 74	.		97
HP:0000505	HP:0000618	Blindness	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0000505	HP:0000618	Blindness	2	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0000505	HP:0000618	Blindness	2	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.		182
HP:0000505	HP:0000618	Blindness	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000505	HP:0000529	Progressive visual loss	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0000505	HP:0001117	Sudden loss of visual acuity	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		276
HP:0000505	HP:0007987	Progressive visual field defects	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		276
HP:0000505	HP:0030588	Abnormal visual field test	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		276
HP:0000505	HP:0000529	Progressive visual loss	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000505	HP:0012377	Hemianopia	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000505	HP:0200068	Nonprogressive visual loss	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0000505	HP:0000575	Scotoma	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0000505	HP:0000618	Blindness	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0000505	HP:0000529	Progressive visual loss	2	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0000505	HP:0000646	Amblyopia	2	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0000505	HP:0030532	Visual acuity test abnormality	2	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000505	HP:0000575	Scotoma	2	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration	.		20
HP:0000505	HP:0000618	Blindness	2	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration	.		20
HP:0000505	HP:0001141	Severely reduced visual acuity	2	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent		20
HP:0000505	HP:0000618	Blindness	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0000505	HP:0000618	Blindness	2	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0000505	HP:0000575	Scotoma	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		449
HP:0000505	HP:0001141	Severely reduced visual acuity	2	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease	.		58
HP:0000505	HP:0000575	Scotoma	2	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4	.		129
HP:0000505	HP:0000618	Blindness	2	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory			6
HP:0000505	HP:0000529	Progressive visual loss	2	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent		35
HP:0000505	HP:0000646	Amblyopia	2	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent		242
HP:0000505	HP:0000618	Blindness	2	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		247
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93			247
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000505	HP:0000618	Blindness	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000505	HP:0000618	Blindness	2	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare
HP:0000505	HP:0000646	Amblyopia	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000505	HP:0000618	Blindness	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0000505	HP:0000529	Progressive visual loss	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		636
HP:0000505	HP:0001117	Sudden loss of visual acuity	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0000505	HP:0012377	Hemianopia	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0000505	HP:0012377	Hemianopia	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000505	HP:0030588	Abnormal visual field test	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000505	HP:0000618	Blindness	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000505	HP:0001117	Sudden loss of visual acuity	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000505	HP:0000529	Progressive visual loss	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent		636
HP:0000505	HP:0012377	Hemianopia	2	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0000505	HP:0000575	Scotoma	2	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0000505	HP:0000618	Blindness	2	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040281 - Very frequent		87
HP:0000505	HP:0000618	Blindness	2	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0000505	HP:0000529	Progressive visual loss	2	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000505	HP:0000618	Blindness	2	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0000505	HP:0000618	Blindness	2	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15	HP:0040283 - Occasional		34
HP:0000505	HP:0000529	Progressive visual loss	2	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		34
HP:0000505	HP:0000618	Blindness	2	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0000505	HP:0000618	Blindness	2	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		342
HP:0000505	HP:0001141	Severely reduced visual acuity	2	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		342
HP:0000505	HP:0000529	Progressive visual loss	2	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		342
HP:0000505	HP:0000575	Scotoma	2	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		9
HP:0000505	HP:0012377	Hemianopia	2	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		9
HP:0000505	HP:0000618	Blindness	2	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0000505	HP:0000575	Scotoma	2	CFAP410 CL E G H	755	1260	OMIM:617547	Retinal dystrophy with or without macular staphyloma
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000505	HP:0000618	Blindness	2	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000505	HP:0000529	Progressive visual loss	2	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa	.
HP:0000505	HP:0000618	Blindness	2	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000505	HP:0000529	Progressive visual loss	2	CFH CL E G H	3075	4883	OMIM:126700	Basal laminar drusen	.		86
HP:0000505	HP:0000575	Scotoma	2	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen			86
HP:0000505	HP:0000529	Progressive visual loss	2	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000505	HP:0000529	Progressive visual loss	2	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000505	HP:0000575	Scotoma	2	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen			57
HP:0000505	HP:0000529	Progressive visual loss	2	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13	.		57
HP:0000505	HP:0000529	Progressive visual loss	2	CHM CL E G H	1121	1940	ORPHA:180	Choroideremia	HP:0040282 - Frequent		47
HP:0000505	HP:0000529	Progressive visual loss	2	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA	.		47
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA	.		47
HP:0000505	HP:0000646	Amblyopia	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0000505	HP:0000646	Amblyopia	2	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2			35
HP:0000505	HP:0000646	Amblyopia	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0000505	HP:0001141	Severely reduced visual acuity	2	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy	HP:0040282 - Frequent		129
HP:0000505	HP:0012377	Hemianopia	2	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0000505	HP:0000575	Scotoma	2	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0000505	HP:0000646	Amblyopia	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000505	HP:0000618	Blindness	2	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040283 - Occasional		102
HP:0000505	HP:0000618	Blindness	2	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0000505	HP:0000529	Progressive visual loss	2	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0000505	HP:0000618	Blindness	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000505	HP:0000646	Amblyopia	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000505	HP:0000529	Progressive visual loss	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000505	HP:0000529	Progressive visual loss	2	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.		141
HP:0000505	HP:0000529	Progressive visual loss	2	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6	.		143
HP:0000505	HP:0000529	Progressive visual loss	2	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8	.		111
HP:0000505	HP:0000529	Progressive visual loss	2	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa	.		60
HP:0000505	HP:0000618	Blindness	2	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0000505	HP:0012377	Hemianopia	2	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		60
HP:0000505	HP:0000575	Scotoma	2	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		60
HP:0000505	HP:0000618	Blindness	2	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa	.		44
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0000505	HP:0000575	Scotoma	2	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0000505	HP:0000618	Blindness	2	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45			164
HP:0000505	HP:0000575	Scotoma	2	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0000505	HP:0001141	Severely reduced visual acuity	2	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.		194
HP:0000505	HP:0000575	Scotoma	2	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease			194
HP:0000505	HP:0000575	Scotoma	2	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000505	HP:0000646	Amblyopia	2	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		215
HP:0000505	HP:0000646	Amblyopia	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent		215
HP:0000505	HP:0000529	Progressive visual loss	2	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040281 - Very frequent		129
HP:0000505	HP:0000529	Progressive visual loss	2	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent		177
HP:0000505	HP:0000646	Amblyopia	2	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000505	HP:0000618	Blindness	2	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.		284
HP:0000505	HP:0000646	Amblyopia	2	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.		193
HP:0000505	HP:0032122	Very low visual acuity	2	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		3
HP:0000505	HP:0000646	Amblyopia	2	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		3
HP:0000505	HP:0000646	Amblyopia	2	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		110
HP:0000505	HP:0000646	Amblyopia	2	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		110
HP:0000505	HP:0000646	Amblyopia	2	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		137
HP:0000505	HP:0000529	Progressive visual loss	2	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0012377	Hemianopia	2	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0012377	Hemianopia	2	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0000529	Progressive visual loss	2	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0012377	Hemianopia	2	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0000618	Blindness	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0000505	HP:0000646	Amblyopia	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0000505	HP:0001141	Severely reduced visual acuity	2	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		156
HP:0000505	HP:0000618	Blindness	2	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0000505	HP:0000618	Blindness	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000505	HP:0000618	Blindness	2	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2	.		158
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000505	HP:0000575	Scotoma	2	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000505	HP:0001141	Severely reduced visual acuity	2	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		158
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa	.		158
HP:0000505	HP:0000618	Blindness	2	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0000505	HP:0000646	Amblyopia	2	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types	.		33
HP:0000505	HP:0000646	Amblyopia	2	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types	HP:0040283 - Occasional		18
HP:0000505	HP:0000646	Amblyopia	2	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types	.		11
HP:0000505	HP:0000618	Blindness	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0000505	HP:0030588	Abnormal visual field test	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		88
HP:0000505	HP:0001117	Sudden loss of visual acuity	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		88
HP:0000505	HP:0007987	Progressive visual field defects	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		88
HP:0000505	HP:0012377	Hemianopia	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000505	HP:0000529	Progressive visual loss	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000505	HP:0000618	Blindness	2	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0000505	HP:0001141	Severely reduced visual acuity	2	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0000505	HP:0000618	Blindness	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000505	HP:0000575	Scotoma	2	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma			101
HP:0000505	HP:0007854	Glaucomatous visual field defect	2	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		101
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma			101
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy	.		126
HP:0000505	HP:0000575	Scotoma	2	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000505	HP:0000529	Progressive visual loss	2	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy	.		126
HP:0000505	HP:0001141	Severely reduced visual acuity	2	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional		126
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent		126
HP:0000505	HP:0000575	Scotoma	2	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0000505	HP:0000618	Blindness	2	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional		126
HP:0000505	HP:0001129	Large central visual field defect	2	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional		126
HP:0000505	HP:0000575	Scotoma	2	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000529	Progressive visual loss	2	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0012377	Hemianopia	2	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0000529	Progressive visual loss	2	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal	.		31
HP:0000505	HP:0000618	Blindness	2	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0000505	HP:0000618	Blindness	2	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC			2
HP:0000505	HP:0000618	Blindness	2	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0000505	HP:0000575	Scotoma	2	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000529	Progressive visual loss	2	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000505	HP:0000575	Scotoma	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000505	HP:0030515	Moderately reduced visual acuity	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		94
HP:0000505	HP:0000575	Scotoma	2	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000505	HP:0000529	Progressive visual loss	2	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000505	HP:0000646	Amblyopia	2	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0000505	HP:0000646	Amblyopia	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0000505	HP:0000575	Scotoma	2	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen			54
HP:0000505	HP:0000575	Scotoma	2	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma			54
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma			54
HP:0000505	HP:0007854	Glaucomatous visual field defect	2	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		54
HP:0000505	HP:0000618	Blindness	2	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040283 - Occasional		42
HP:0000505	HP:0000618	Blindness	2	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040283 - Occasional		24
HP:0000505	HP:0000618	Blindness	2	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040283 - Occasional		32
HP:0000505	HP:0000618	Blindness	2	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040283 - Occasional		38
HP:0000505	HP:0000618	Blindness	2	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040283 - Occasional		48
HP:0000505	HP:0000646	Amblyopia	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000505	HP:0000575	Scotoma	2	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease			62
HP:0000505	HP:0000646	Amblyopia	2	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2			4
HP:0000505	HP:0000646	Amblyopia	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		186
HP:0000505	HP:0000646	Amblyopia	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0000505	HP:0000529	Progressive visual loss	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0000505	HP:0000618	Blindness	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0000505	HP:0000618	Blindness	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0000505	HP:0000646	Amblyopia	2	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		12
HP:0000505	HP:0012377	Hemianopia	2	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0000505	HP:0000575	Scotoma	2	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0000505	HP:0000529	Progressive visual loss	2	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000505	HP:0000529	Progressive visual loss	2	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000505	HP:0000529	Progressive visual loss	2	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000505	HP:0000618	Blindness	2	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0000505	HP:0000529	Progressive visual loss	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0000505	HP:0000618	Blindness	2	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	FAM161A CL E G H	84140	25808	OMIM:606068	RETINITIS PIGMENTOSA 28; RP28			56
HP:0000505	HP:0000618	Blindness	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0000505	HP:0000646	Amblyopia	2	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		1361
HP:0000505	HP:0000618	Blindness	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.		1361
HP:0000505	HP:0000618	Blindness	2	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0000505	HP:0000575	Scotoma	2	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0000505	HP:0000646	Amblyopia	2	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		175
HP:0000505	HP:0000646	Amblyopia	2	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040283 - Occasional		175
HP:0000505	HP:0000646	Amblyopia	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0000505	HP:0000646	Amblyopia	2	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000505	HP:0000646	Amblyopia	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		145
HP:0000505	HP:0000618	Blindness	2	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		157
HP:0000505	HP:0000618	Blindness	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0000505	HP:0000618	Blindness	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0000505	HP:0000646	Amblyopia	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		493
HP:0000505	HP:0000575	Scotoma	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0000505	HP:0000618	Blindness	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa	.	HP:0003581 - Adult onset	111
HP:0000505	HP:0000646	Amblyopia	2	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040282 - Frequent		92
HP:0000505	HP:0000618	Blindness	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		61
HP:0000505	HP:0000618	Blindness	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0000505	HP:0000618	Blindness	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent		353
HP:0000505	HP:0000618	Blindness	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent		263
HP:0000505	HP:0032037	Mildly reduced visual acuity	2	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked	.		38
HP:0000505	HP:0000618	Blindness	2	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0000505	HP:0000618	Blindness	2	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.		109
HP:0000505	HP:0001141	Severely reduced visual acuity	2	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0000505	HP:0000618	Blindness	2	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0000505	HP:0000646	Amblyopia	2	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000505	HP:0000618	Blindness	2	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000505	HP:0000618	Blindness	2	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional		109
HP:0000505	HP:0000618	Blindness	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0000505	HP:0000618	Blindness	2	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0000505	HP:0000618	Blindness	2	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional		160
HP:0000505	HP:0000618	Blindness	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare		29
HP:0000505	HP:0000646	Amblyopia	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		8
HP:0000505	HP:0001141	Severely reduced visual acuity	2	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		64
HP:0000505	HP:0032123	Ultra-low vision	2	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17			64
HP:0000505	HP:0000618	Blindness	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0000505	HP:0000618	Blindness	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040281 - Very frequent		120
HP:0000505	HP:0000618	Blindness	2	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.		69
HP:0000505	HP:0000618	Blindness	2	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		34
HP:0000505	HP:0000618	Blindness	2	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0000505	HP:0012377	Hemianopia	2	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0000505	HP:0000618	Blindness	2	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.		101
HP:0000505	HP:0000618	Blindness	2	GNAT1 CL E G H	2779	4393	OMIM:610444	Night blindness, congenital stationary, autosomal dominant 3	.		39
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	GNAT1 CL E G H	2779	4393	OMIM:616389	Night blindness, congenital stationary, type 1G			39
HP:0000505	HP:0000575	Scotoma	2	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0000505	HP:0000618	Blindness	2	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		23
HP:0000505	HP:0000618	Blindness	2	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		8
HP:0000505	HP:0012377	Hemianopia	2	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0000505	HP:0000646	Amblyopia	2	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked	.		64
HP:0000505	HP:0000646	Amblyopia	2	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		33
HP:0000505	HP:0032122	Very low visual acuity	2	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		33
HP:0000505	HP:0000618	Blindness	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent		80
HP:0000505	HP:0000529	Progressive visual loss	2	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy			24
HP:0000505	HP:0000529	Progressive visual loss	2	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3	.		24
HP:0000505	HP:0000618	Blindness	2	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0000505	HP:0000529	Progressive visual loss	2	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy			124
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000505	HP:0001141	Severely reduced visual acuity	2	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		124
HP:0000505	HP:0000618	Blindness	2	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0000505	HP:0000646	Amblyopia	2	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0000505	HP:0000646	Amblyopia	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000505	HP:0012377	Hemianopia	2	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000505	HP:0000575	Scotoma	2	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000505	HP:0000646	Amblyopia	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0000505	HP:0000618	Blindness	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0000505	HP:0000646	Amblyopia	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0000505	HP:0000618	Blindness	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0000505	HP:0000618	Blindness	2	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	HGSNAT CL E G H	138050	26527	OMIM:616544	Retinitis pigmentosa 73	.		86
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79	.		11
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92			2
HP:0000505	HP:0000575	Scotoma	2	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92			2
HP:0000505	HP:0030644	Blind-spot enlargment	2	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent		4
HP:0000505	HP:0000575	Scotoma	2	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0000505	HP:0000618	Blindness	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0000505	HP:0000618	Blindness	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0000505	HP:0000529	Progressive visual loss	2	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1			262
HP:0000505	HP:0032123	Ultra-low vision	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000505	HP:0001141	Severely reduced visual acuity	2	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0000505	HP:0000618	Blindness	2	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0000505	HP:0000646	Amblyopia	2	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0000505	HP:0000618	Blindness	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040282 - Frequent		19
HP:0000505	HP:0000618	Blindness	2	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0000505	HP:0000618	Blindness	2	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000505	HP:0000618	Blindness	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0000505	HP:0001141	Severely reduced visual acuity	2	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		148
HP:0000505	HP:0000618	Blindness	2	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0000505	HP:0000529	Progressive visual loss	2	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80	.		148
HP:0000505	HP:0000618	Blindness	2	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80	.		148
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0000505	HP:0000618	Blindness	2	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000505	HP:0000618	Blindness	2	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000505	HP:0000618	Blindness	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0000505	HP:0000618	Blindness	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000505	HP:0000618	Blindness	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000505	HP:0000618	Blindness	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0000505	HP:0001141	Severely reduced visual acuity	2	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		52
HP:0000505	HP:0000618	Blindness	2	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	.		52
HP:0000505	HP:0030515	Moderately reduced visual acuity	2	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4	.		4
HP:0000505	HP:0000618	Blindness	2	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000505	HP:0030515	Moderately reduced visual acuity	2	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5	.		120
HP:0000505	HP:0000575	Scotoma	2	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5			120
HP:0000505	HP:0000618	Blindness	2	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0000505	HP:0000529	Progressive visual loss	2	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		106
HP:0000505	HP:0001141	Severely reduced visual acuity	2	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		61
HP:0000505	HP:0000529	Progressive visual loss	2	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		61
HP:0000505	HP:0000618	Blindness	2	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		119
HP:0000505	HP:0000618	Blindness	2	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		69
HP:0000505	HP:0000618	Blindness	2	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		80
HP:0000505	HP:0000575	Scotoma	2	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities			3
HP:0000505	HP:0000529	Progressive visual loss	2	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000505	HP:0000646	Amblyopia	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000505	HP:0001141	Severely reduced visual acuity	2	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		42
HP:0000505	HP:0000646	Amblyopia	2	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000505	HP:0000575	Scotoma	2	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B	.		73
HP:0000505	HP:0000618	Blindness	2	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000505	HP:0000529	Progressive visual loss	2	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0000505	HP:0000618	Blindness	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0000505	HP:0000646	Amblyopia	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0000505	HP:0000618	Blindness	2	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.		9
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0000505	HP:0000618	Blindness	2	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	KIZ CL E G H	55857	15865	OMIM:615780	Retinitis pigmentosa 69	.		3
HP:0000505	HP:0000618	Blindness	2	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0000505	HP:0000618	Blindness	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000505	HP:0000646	Amblyopia	2	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040282 - Frequent		35
HP:0000505	HP:0000646	Amblyopia	2	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.		35
HP:0000505	HP:0000618	Blindness	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.		92
HP:0000505	HP:0000618	Blindness	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0000505	HP:0001141	Severely reduced visual acuity	2	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		70
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000505	HP:0000646	Amblyopia	2	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types	.		16
HP:0000505	HP:0000646	Amblyopia	2	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000505	HP:0000575	Scotoma	2	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type
HP:0000505	HP:0000618	Blindness	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		8
HP:0000505	HP:0000646	Amblyopia	2	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		4
HP:0000505	HP:0001141	Severely reduced visual acuity	2	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		62
HP:0000505	HP:0000618	Blindness	2	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14			62
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa	.		62
HP:0000505	HP:0000618	Blindness	2	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000505	HP:0000529	Progressive visual loss	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000505	HP:0000529	Progressive visual loss	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent		289
HP:0000505	HP:0000618	Blindness	2	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.		125
HP:0000505	HP:0000618	Blindness	2	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.		125
HP:0000505	HP:0000618	Blindness	2	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0000505	HP:0001141	Severely reduced visual acuity	2	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0000505	HP:0030515	Moderately reduced visual acuity	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040284 - Very rare		125
HP:0000505	HP:0030532	Visual acuity test abnormality	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0000505	HP:0001141	Severely reduced visual acuity	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent		125
HP:0000505	HP:0000618	Blindness	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0000505	HP:0000618	Blindness	2	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.		125
HP:0000505	HP:0000618	Blindness	2	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional		125
HP:0000505	HP:0000646	Amblyopia	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0000505	HP:0000618	Blindness	2	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0000505	HP:0000646	Amblyopia	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		11
HP:0000505	HP:0000646	Amblyopia	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0000505	HP:0000618	Blindness	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0000505	HP:0000529	Progressive visual loss	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		462
HP:0000505	HP:0000618	Blindness	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0000505	HP:0001117	Sudden loss of visual acuity	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0000505	HP:0012377	Hemianopia	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0000505	HP:0000618	Blindness	2	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0000505	HP:0000529	Progressive visual loss	2	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38	.		75
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38			75
HP:0000505	HP:0000575	Scotoma	2	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000505	HP:0000529	Progressive visual loss	2	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000505	HP:0000618	Blindness	2	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.		120
HP:0000505	HP:0000575	Scotoma	2	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement			120
HP:0000505	HP:0000646	Amblyopia	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0000505	HP:0000646	Amblyopia	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000505	HP:0012377	Hemianopia	2	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		68
HP:0000505	HP:0000618	Blindness	2	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	HP:0040283 - Occasional		217
HP:0000505	HP:0000575	Scotoma	2	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0000505	HP:0000618	Blindness	2	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	HP:0040283 - Occasional		88
HP:0000505	HP:0000575	Scotoma	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional		81
HP:0000505	HP:0000529	Progressive visual loss	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent		81
HP:0000505	HP:0000618	Blindness	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare		81
HP:0000505	HP:0000575	Scotoma	2	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0000505	HP:0012377	Hemianopia	2	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0000505	HP:0000575	Scotoma	2	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		516
HP:0000505	HP:0012377	Hemianopia	2	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		516
HP:0000505	HP:0000575	Scotoma	2	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma			47
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma			47
HP:0000505	HP:0007854	Glaucomatous visual field defect	2	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		47
HP:0000505	HP:0000618	Blindness	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0000505	HP:0200068	Nonprogressive visual loss	2	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.		25
HP:0000505	HP:0000618	Blindness	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0000505	HP:0000529	Progressive visual loss	2	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0012377	Hemianopia	2	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0000618	Blindness	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0000505	HP:0000529	Progressive visual loss	2	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000618	Blindness	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0000505	HP:0000575	Scotoma	2	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000529	Progressive visual loss	2	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000529	Progressive visual loss	2	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0000529	Progressive visual loss	2	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0012377	Hemianopia	2	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0000529	Progressive visual loss	2	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0000505	HP:0000575	Scotoma	2	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0000505	HP:0012377	Hemianopia	2	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0000618	Blindness	2	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040281 - Very frequent		96
HP:0000505	HP:0000618	Blindness	2	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000505	HP:0001141	Severely reduced visual acuity	2	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000505	HP:0000618	Blindness	2	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.	HP:0003593 - Infantile onset	39
HP:0000505	HP:0000618	Blindness	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent		39
HP:0000505	HP:0000646	Amblyopia	2	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000505	HP:0000618	Blindness	2	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000505	HP:0000618	Blindness	2	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional		39
HP:0000505	HP:0000618	Blindness	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		7
HP:0000505	HP:0000618	Blindness	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		32
HP:0000505	HP:0000618	Blindness	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		1
HP:0000505	HP:0000618	Blindness	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		40
HP:0000505	HP:0000618	Blindness	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		26
HP:0000505	HP:0000618	Blindness	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		31
HP:0000505	HP:0000618	Blindness	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		50
HP:0000505	HP:0000618	Blindness	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		34
HP:0000505	HP:0000618	Blindness	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0000505	HP:0000618	Blindness	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0000505	HP:0000618	Blindness	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		3
HP:0000505	HP:0000646	Amblyopia	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0000505	HP:0000618	Blindness	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0000505	HP:0000618	Blindness	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		9
HP:0000505	HP:0000618	Blindness	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		16
HP:0000505	HP:0000618	Blindness	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		81
HP:0000505	HP:0000618	Blindness	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		65
HP:0000505	HP:0000529	Progressive visual loss	2	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy			65
HP:0000505	HP:0000575	Scotoma	2	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy			65
HP:0000505	HP:0000618	Blindness	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		22
HP:0000505	HP:0000618	Blindness	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		27
HP:0000505	HP:0000618	Blindness	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0000505	HP:0000618	Blindness	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		21
HP:0000505	HP:0000618	Blindness	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		38
HP:0000505	HP:0000618	Blindness	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		42
HP:0000505	HP:0000618	Blindness	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		74
HP:0000505	HP:0000618	Blindness	2	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0000505	HP:0000618	Blindness	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		27
HP:0000505	HP:0000618	Blindness	2	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000505	HP:0000529	Progressive visual loss	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0000505	HP:0000529	Progressive visual loss	2	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0000505	HP:0000529	Progressive visual loss	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent		1952
HP:0000505	HP:0000618	Blindness	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0000505	HP:0030532	Visual acuity test abnormality	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0000505	HP:0000529	Progressive visual loss	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000505	HP:0012377	Hemianopia	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000505	HP:0000618	Blindness	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0000505	HP:0030588	Abnormal visual field test	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000505	HP:0000646	Amblyopia	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0000505	HP:0000618	Blindness	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0000505	HP:0000646	Amblyopia	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0000505	HP:0001141	Severely reduced visual acuity	2	NHS CL E G H	4810	7820	OMIM:302200	Cataract, congenital total, with posterior sutural opacities in heterozygotes	.		88
HP:0000505	HP:0000618	Blindness	2	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040283 - Occasional		217
HP:0000505	HP:0001141	Severely reduced visual acuity	2	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		15
HP:0000505	HP:0032123	Ultra-low vision	2	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000505	HP:0000646	Amblyopia	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000505	HP:0000529	Progressive visual loss	2	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		85
HP:0000505	HP:0000529	Progressive visual loss	2	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		157
HP:0000505	HP:0000529	Progressive visual loss	2	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		220
HP:0000505	HP:0001141	Severely reduced visual acuity	2	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.		220
HP:0000505	HP:0000646	Amblyopia	2	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.		220
HP:0000505	HP:0000618	Blindness	2	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0000505	HP:0000646	Amblyopia	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0000505	HP:0000618	Blindness	2	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000505	HP:0000618	Blindness	2	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.		30
HP:0000505	HP:0000618	Blindness	2	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0000505	HP:0000618	Blindness	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		89
HP:0000505	HP:0000618	Blindness	2	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040282 - Frequent		94
HP:0000505	HP:0000529	Progressive visual loss	2	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040281 - Very frequent		94
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040282 - Frequent		94
HP:0000505	HP:0000618	Blindness	2	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency	.		94
HP:0000505	HP:0000646	Amblyopia	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent		88
HP:0000505	HP:0000618	Blindness	2	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0000505	HP:0001141	Severely reduced visual acuity	2	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000505	HP:0000646	Amblyopia	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040283 - Occasional		214
HP:0000505	HP:0000529	Progressive visual loss	2	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040281 - Very frequent		214
HP:0000505	HP:0000575	Scotoma	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000505	HP:0030515	Moderately reduced visual acuity	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		214
HP:0000505	HP:0000529	Progressive visual loss	2	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.		214
HP:0000505	HP:0000618	Blindness	2	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0000505	HP:0000575	Scotoma	2	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000505	HP:0000575	Scotoma	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000505	HP:0000575	Scotoma	2	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0000505	HP:0000618	Blindness	2	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional		163
HP:0000505	HP:0000575	Scotoma	2	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3			163
HP:0000505	HP:0001141	Severely reduced visual acuity	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0000505	HP:0032122	Very low visual acuity	2	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		4
HP:0000505	HP:0000646	Amblyopia	2	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		4
HP:0000505	HP:0032037	Mildly reduced visual acuity	2	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration			5
HP:0000505	HP:0000646	Amblyopia	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0000505	HP:0000529	Progressive visual loss	2	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent
HP:0000505	HP:0000618	Blindness	2	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040284 - Very rare		55
HP:0000505	HP:0000618	Blindness	2	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040284 - Very rare		55
HP:0000505	HP:0030532	Visual acuity test abnormality	2	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia			194
HP:0000505	HP:0000646	Amblyopia	2	PAX6 CL E G H	5080	8620	ORPHA:35737	Morning glory disc anomaly	HP:0040281 - Very frequent		194
HP:0000505	HP:0000618	Blindness	2	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000505	HP:0000575	Scotoma	2	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0000505	HP:0012377	Hemianopia	2	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0000505	HP:0001141	Severely reduced visual acuity	2	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		11
HP:0000505	HP:0000529	Progressive visual loss	2	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.		11
HP:0000505	HP:0000618	Blindness	2	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0000505	HP:0000618	Blindness	2	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0000505	HP:0000575	Scotoma	2	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa	.		18
HP:0000505	HP:0000618	Blindness	2	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0000505	HP:0000575	Scotoma	2	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0000505	HP:0030532	Visual acuity test abnormality	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0000505	HP:0012377	Hemianopia	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000505	HP:0000529	Progressive visual loss	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000505	HP:0030588	Abnormal visual field test	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000505	HP:0000618	Blindness	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0000505	HP:0000618	Blindness	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		88
HP:0000505	HP:0012377	Hemianopia	2	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		40
HP:0000505	HP:0000575	Scotoma	2	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		40
HP:0000505	HP:0000646	Amblyopia	2	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		169
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		75
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		4
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		65
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		66
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		46
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		59
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		62
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		82
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		106
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		47
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		99
HP:0000505	HP:0000618	Blindness	2	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent		98
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		98
HP:0000505	HP:0000529	Progressive visual loss	2	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040283 - Occasional		72
HP:0000505	HP:0000618	Blindness	2	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040284 - Very rare		21
HP:0000505	HP:0000646	Amblyopia	2	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2	.		6
HP:0000505	HP:0000529	Progressive visual loss	2	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040283 - Occasional		45
HP:0000505	HP:0000646	Amblyopia	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0000505	HP:0000646	Amblyopia	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000505	HP:0012377	Hemianopia	2	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		162
HP:0000505	HP:0012377	Hemianopia	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000505	HP:0000529	Progressive visual loss	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000505	HP:0000618	Blindness	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0000505	HP:0030532	Visual acuity test abnormality	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0000505	HP:0030588	Abnormal visual field test	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000505	HP:0000618	Blindness	2	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.		12
HP:0000505	HP:0000575	Scotoma	2	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5			135
HP:0000505	HP:0000646	Amblyopia	2	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea			51
HP:0000505	HP:0000618	Blindness	2	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types	.		6
HP:0000505	HP:0000618	Blindness	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional		133
HP:0000505	HP:0000618	Blindness	2	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.		11
HP:0000505	HP:0000618	Blindness	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.		105
HP:0000505	HP:0000529	Progressive visual loss	2	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0000505	HP:0000575	Scotoma	2	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20			3
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	.		3
HP:0000505	HP:0000618	Blindness	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare		35
HP:0000505	HP:0000618	Blindness	2	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040283 - Occasional		464
HP:0000505	HP:0000646	Amblyopia	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000505	HP:0000618	Blindness	2	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		180
HP:0000505	HP:0000618	Blindness	2	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0000505	HP:0000618	Blindness	2	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		18
HP:0000505	HP:0000618	Blindness	2	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		213
HP:0000505	HP:0000618	Blindness	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0000505	HP:0000618	Blindness	2	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		221
HP:0000505	HP:0000618	Blindness	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0000505	HP:0030532	Visual acuity test abnormality	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000505	HP:0000529	Progressive visual loss	2	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0000505	HP:0000618	Blindness	2	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.	HP:0011463 - Childhood onset	172
HP:0000505	HP:0000618	Blindness	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000505	HP:0000618	Blindness	2	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0000505	HP:0000575	Scotoma	2	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000505	HP:0000575	Scotoma	2	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2			110
HP:0000505	HP:0000618	Blindness	2	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0000505	HP:0001141	Severely reduced visual acuity	2	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000505	HP:0000575	Scotoma	2	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease			110
HP:0000505	HP:0012377	Hemianopia	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000505	HP:0000618	Blindness	2	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.		75
HP:0000505	HP:0000618	Blindness	2	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000505	HP:0007987	Progressive visual field defects	2	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18	.		28
HP:0000505	HP:0000575	Scotoma	2	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18	.		28
HP:0000505	HP:0000618	Blindness	2	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0000505	HP:0000618	Blindness	2	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11	.		70
HP:0000505	HP:0000618	Blindness	2	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000505	HP:0000618	Blindness	2	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0000505	HP:0000618	Blindness	2	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13	.		94
HP:0000505	HP:0000529	Progressive visual loss	2	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy			159
HP:0000505	HP:0000618	Blindness	2	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7	.		159
HP:0000505	HP:0007987	Progressive visual field defects	2	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		159
HP:0000505	HP:0000575	Scotoma	2	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000505	HP:0000529	Progressive visual loss	2	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		159
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000505	HP:0000575	Scotoma	2	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease			159
HP:0000505	HP:0000529	Progressive visual loss	2	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0000505	HP:0000618	Blindness	2	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent		49
HP:0000505	HP:0000646	Amblyopia	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000505	HP:0000575	Scotoma	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		94
HP:0000505	HP:0000618	Blindness	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0000505	HP:0000646	Amblyopia	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0000505	HP:0000575	Scotoma	2	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18			6
HP:0000505	HP:0030515	Moderately reduced visual acuity	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional		3
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RAX2 CL E G H	84839	18286	OMIM:620102				52
HP:0000505	HP:0000529	Progressive visual loss	2	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11			52
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa	.		108
HP:0000505	HP:0000618	Blindness	2	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0000505	HP:0000575	Scotoma	2	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66			108
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66	.		108
HP:0000505	HP:0001141	Severely reduced visual acuity	2	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		95
HP:0000505	HP:0000618	Blindness	2	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12			95
HP:0000505	HP:0000529	Progressive visual loss	2	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0000505	HP:0001141	Severely reduced visual acuity	2	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		45
HP:0000505	HP:0000618	Blindness	2	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000505	HP:0000575	Scotoma	2	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000505	HP:0007987	Progressive visual field defects	2	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		32
HP:0000505	HP:0000529	Progressive visual loss	2	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		32
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000505	HP:0000618	Blindness	2	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000505	HP:0000618	Blindness	2	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0000505	HP:0000618	Blindness	2	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0000505	HP:0000618	Blindness	2	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4	.		107
HP:0000505	HP:0000529	Progressive visual loss	2	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		107
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000505	HP:0000575	Scotoma	2	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000505	HP:0007987	Progressive visual field defects	2	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		107
HP:0000505	HP:0000646	Amblyopia	2	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000505	HP:0001129	Large central visual field defect	2	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional		47
HP:0000505	HP:0000529	Progressive visual loss	2	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040281 - Very frequent		47
HP:0000505	HP:0000575	Scotoma	2	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0000505	HP:0000575	Scotoma	2	RLBP1 CL E G H	6017	10024	OMIM:607476	NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD			47
HP:0000505	HP:0000618	Blindness	2	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000505	HP:0000575	Scotoma	2	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000505	HP:0000529	Progressive visual loss	2	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		47
HP:0000505	HP:0007987	Progressive visual field defects	2	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		47
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa	.		38
HP:0000505	HP:0000618	Blindness	2	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7	.		38
HP:0000505	HP:0000646	Amblyopia	2	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000505	HP:0000618	Blindness	2	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1	.		111
HP:0000505	HP:0000575	Scotoma	2	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0000505	HP:0000529	Progressive visual loss	2	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0000505	HP:0000618	Blindness	2	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0000505	HP:0000618	Blindness	2	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked	.		45
HP:0000505	HP:0000575	Scotoma	2	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000505	HP:0000618	Blindness	2	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	.		14
HP:0000505	HP:0001141	Severely reduced visual acuity	2	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		129
HP:0000505	HP:0000618	Blindness	2	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II	.		129
HP:0000505	HP:0000618	Blindness	2	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0000505	HP:0001141	Severely reduced visual acuity	2	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20	.		129
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87			129
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000505	HP:0000575	Scotoma	2	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0000505	HP:0000618	Blindness	2	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000505	HP:0000575	Scotoma	2	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000505	HP:0001141	Severely reduced visual acuity	2	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		109
HP:0000505	HP:0001141	Severely reduced visual acuity	2	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6	.		109
HP:0000505	HP:0000646	Amblyopia	2	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000505	HP:0000529	Progressive visual loss	2	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000505	HP:0000575	Scotoma	2	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000505	HP:0030644	Blind-spot enlargment	2	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000505	HP:0000618	Blindness	2	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0000505	HP:0000646	Amblyopia	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0000505	HP:0000618	Blindness	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000505	HP:0000618	Blindness	2	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000505	HP:0000575	Scotoma	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		1053
HP:0000505	HP:0000618	Blindness	2	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3	.		1053
HP:0000505	HP:0000646	Amblyopia	2	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	HP:0040283 - Occasional		357
HP:0000505	HP:0000529	Progressive visual loss	2	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		61
HP:0000505	HP:0000618	Blindness	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		304
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000505	HP:0000618	Blindness	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		16
HP:0000505	HP:0000618	Blindness	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		237
HP:0000505	HP:0000618	Blindness	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		129
HP:0000505	HP:0000529	Progressive visual loss	2	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10	.		48
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10			48
HP:0000505	HP:0000618	Blindness	2	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000505	HP:0000618	Blindness	2	SEMA4A CL E G H	64218	10729	OMIM:610282	Retinitis pigmentosa 35	.		48
HP:0000505	HP:0012377	Hemianopia	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0000505	HP:0000646	Amblyopia	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0000505	HP:0000529	Progressive visual loss	2	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040283 - Occasional		177
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000505	HP:0000618	Blindness	2	SLC24A1 CL E G H	9187	10975	OMIM:613830	Night blindness, congenital stationary, type 1D	.		66
HP:0000505	HP:0000575	Scotoma	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000505	HP:0000529	Progressive visual loss	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.		14
HP:0000505	HP:0000529	Progressive visual loss	2	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000505	HP:0000618	Blindness	2	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000505	HP:0000646	Amblyopia	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		504
HP:0000505	HP:0000646	Amblyopia	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent		146
HP:0000505	HP:0000529	Progressive visual loss	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000505	HP:0000618	Blindness	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0000505	HP:0030588	Abnormal visual field test	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000505	HP:0012377	Hemianopia	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000505	HP:0030532	Visual acuity test abnormality	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0000505	HP:0030588	Abnormal visual field test	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000505	HP:0000618	Blindness	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0000505	HP:0000529	Progressive visual loss	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000505	HP:0030532	Visual acuity test abnormality	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0000505	HP:0012377	Hemianopia	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000505	HP:0000618	Blindness	2	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040282 - Frequent		174
HP:0000505	HP:0000646	Amblyopia	2	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040282 - Frequent		174
HP:0000505	HP:0000646	Amblyopia	2	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0000505	HP:0000529	Progressive visual loss	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000505	HP:0030588	Abnormal visual field test	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000505	HP:0012377	Hemianopia	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000505	HP:0030532	Visual acuity test abnormality	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0000505	HP:0000618	Blindness	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0000505	HP:0000618	Blindness	2	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0000505	HP:0000646	Amblyopia	2	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	HP:0040283 - Occasional		29
HP:0000505	HP:0000529	Progressive visual loss	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000505	HP:0000529	Progressive visual loss	2	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.		26
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0000505	HP:0001141	Severely reduced visual acuity	2	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		48
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3			48
HP:0000505	HP:0000618	Blindness	2	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000505	HP:0000618	Blindness	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.		1
HP:0000505	HP:0000618	Blindness	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0000505	HP:0001141	Severely reduced visual acuity	2	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0000505	HP:0012377	Hemianopia	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000505	HP:0030588	Abnormal visual field test	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000505	HP:0000618	Blindness	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0000505	HP:0030532	Visual acuity test abnormality	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0000505	HP:0000529	Progressive visual loss	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000505	HP:0000646	Amblyopia	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000505	HP:0000646	Amblyopia	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000505	HP:0000618	Blindness	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.		271
HP:0000505	HP:0000646	Amblyopia	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0000505	HP:0000618	Blindness	2	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.		82
HP:0000505	HP:0000529	Progressive visual loss	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000505	HP:0012377	Hemianopia	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000505	HP:0030588	Abnormal visual field test	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000505	HP:0030532	Visual acuity test abnormality	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0000505	HP:0000618	Blindness	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0000505	HP:0000646	Amblyopia	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000505	HP:0000529	Progressive visual loss	2	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I	.		58
HP:0000505	HP:0000529	Progressive visual loss	2	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0000505	HP:0000529	Progressive visual loss	2	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy			58
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0000505	HP:0000575	Scotoma	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0000505	HP:0000618	Blindness	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		1
HP:0000505	HP:0000618	Blindness	2	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy	.		95
HP:0000505	HP:0001129	Large central visual field defect	2	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040282 - Frequent		95
HP:0000505	HP:0001141	Severely reduced visual acuity	2	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040283 - Occasional		95
HP:0000505	HP:0000618	Blindness	2	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040283 - Occasional		95
HP:0000505	HP:0000618	Blindness	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0000505	HP:0000575	Scotoma	2	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	.		23
HP:0000505	HP:0000618	Blindness	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		4
HP:0000505	HP:0000618	Blindness	2	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		39
HP:0000505	HP:0000618	Blindness	2	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		45
HP:0000505	HP:0000618	Blindness	2	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		33
HP:0000505	HP:0000618	Blindness	2	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		82
HP:0000505	HP:0000618	Blindness	2	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0000505	HP:0000529	Progressive visual loss	2	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0000505	HP:0000618	Blindness	2	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.		44
HP:0000505	HP:0000618	Blindness	2	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0000505	HP:0000529	Progressive visual loss	2	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2	.		203
HP:0000505	HP:0000529	Progressive visual loss	2	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		6
HP:0000505	HP:0012377	Hemianopia	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000505	HP:0030588	Abnormal visual field test	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000505	HP:0000618	Blindness	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0000505	HP:0030532	Visual acuity test abnormality	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0000505	HP:0000529	Progressive visual loss	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000505	HP:0012377	Hemianopia	2	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional		56
HP:0000505	HP:0000529	Progressive visual loss	2	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0000505	HP:0000529	Progressive visual loss	2	TRIM44 CL E G H	54765	19016	OMIM:617142	Aniridia 3	.		1
HP:0000505	HP:0000646	Amblyopia	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0000505	HP:0012377	Hemianopia	2	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0012377	Hemianopia	2	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0012377	Hemianopia	2	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0012377	Hemianopia	2	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0012377	Hemianopia	2	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0012377	Hemianopia	2	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0012377	Hemianopia	2	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0012377	Hemianopia	2	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000505	HP:0000575	Scotoma	2	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000505	HP:0000575	Scotoma	2	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0000505	HP:0012377	Hemianopia	2	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0012377	Hemianopia	2	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000505	HP:0001141	Severely reduced visual acuity	2	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000505	HP:0000618	Blindness	2	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000505	HP:0000618	Blindness	2	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0000505	HP:0000618	Blindness	2	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000505	HP:0012377	Hemianopia	2	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional		39
HP:0000505	HP:0030532	Visual acuity test abnormality	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000505	HP:0000646	Amblyopia	2	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	.		64
HP:0000505	HP:0001141	Severely reduced visual acuity	2	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent
HP:0000505	HP:0001141	Severely reduced visual acuity	2	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		66
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.		66
HP:0000505	HP:0000618	Blindness	2	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000505	HP:0000646	Amblyopia	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0000505	HP:0000618	Blindness	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000505	HP:0000529	Progressive visual loss	2	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.		21
HP:0000505	HP:0000618	Blindness	2	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14	HP:0040284 - Very rare
HP:0000505	HP:0000618	Blindness	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040284 - Very rare		31
HP:0000505	HP:0000618	Blindness	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare		41
HP:0000505	HP:0012377	Hemianopia	2	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0000505	HP:0000575	Scotoma	2	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0000505	HP:0012377	Hemianopia	2	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0000505	HP:0000575	Scotoma	2	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0000505	HP:0000618	Blindness	2	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0000505	HP:0000575	Scotoma	2	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		777
HP:0000505	HP:0012377	Hemianopia	2	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		777
HP:0000505	HP:0001141	Severely reduced visual acuity	2	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent
HP:0000505	HP:0000529	Progressive visual loss	2	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000505	HP:0000646	Amblyopia	2	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		47
HP:0000505	HP:0032122	Very low visual acuity	2	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		47
HP:0000505	HP:0000646	Amblyopia	2	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional		20
HP:0000505	HP:0000646	Amblyopia	2	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0000505	HP:0000646	Amblyopia	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0000505	HP:0000529	Progressive visual loss	2	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		95
HP:0000505	HP:0000646	Amblyopia	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0000505	HP:0000646	Amblyopia	2	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0000505	HP:0001141	Severely reduced visual acuity	2	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000505	HP:0030644	Blind-spot enlargment	2	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000505	HP:0012377	Hemianopia	2	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		155
HP:0000505	HP:0000575	Scotoma	2	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		155
HP:0000505	HP:0000618	Blindness	2	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID	.		155
HP:0000505	HP:0000618	Blindness	2	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0000505	HP:0000646	Amblyopia	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000505	HP:0000646	Amblyopia	2	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0000505	HP:0032122	Very low visual acuity	2	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		8
HP:0000505	HP:0000646	Amblyopia	2	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		8
HP:0000505	HP:0000646	Amblyopia	2	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000505	HP:0000646	Amblyopia	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000505	HP:0000529	Progressive visual loss	2	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6	.		14
HP:0000505	HP:0000618	Blindness	2	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0000505	HP:0001141	Severely reduced visual acuity	2	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0000505	HP:0000618	Blindness	2	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72	.		14
HP:0000505	HP:0000618	Blindness	2	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		49
HP:0000505	HP:0000618	Blindness	2	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0000505	HP:0001133	Constriction of peripheral visual field	2	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0000505	HP:0001141	Severely reduced visual acuity	2	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.		27
HP:0000505	HP:0030533	Abnormal unaided visual acuity test	3	CL E G H
HP:0000505	HP:0030592	Abnormal static perimetry test	3	CL E G H
HP:0000505	HP:0030527	Very severe constriction of peripheral visual field	3	CL E G H
HP:0000505	HP:0030590	Abnormal Amsler grid test	3	CL E G H
HP:0000505	HP:0030552	Visual acuity light perception without projection	3	CL E G H
HP:0000505	HP:0010822	Scintillating scotoma	3	CL E G H
HP:0000505	HP:0030526	Severe constriction of peripheral visual field	3	CL E G H
HP:0000505	HP:0030589	Abnormal confrontational visual field test	3	CL E G H
HP:0000505	HP:0030525	Moderate constriction of peripheral visual field	3	CL E G H
HP:0000505	HP:0030522	Mild constriction of peripheral visual field	3	CL E G H
HP:0000505	HP:0030535	Abnormal pinhole visual acuity test	3	CL E G H
HP:0000505	HP:0032285	Ultra-low vision with retained light projection	3	CL E G H
HP:0000505	HP:0000603	Central scotoma	3	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000505	HP:0007994	Peripheral visual field loss	3	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000505	HP:0000603	Central scotoma	3	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		826
HP:0000505	HP:0030528	Paracentral scotoma	3	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9	.		60
HP:0000505	HP:0007994	Peripheral visual field loss	3	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75	.		2
HP:0000505	HP:0030517	Heteronymous hemianopia	3	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0000505	HP:0030591	Abnormal kinetic perimetry test	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0000505	HP:0030517	Heteronymous hemianopia	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000505	HP:0030516	Homonymous hemianopia	3	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0000505	HP:0030553	Visual acuity no light perception	3	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare		3179
HP:0000505	HP:0007994	Peripheral visual field loss	3	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000505	HP:0030529	Ring scotoma	3	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000505	HP:0000603	Central scotoma	3	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		10
HP:0000505	HP:0000603	Central scotoma	3	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000505	HP:0007875	Congenital blindness	3	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent		4
HP:0000505	HP:0007875	Congenital blindness	3	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.		4
HP:0000505	HP:0032287	Ultra-low vision with no light perception	3	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000505	HP:0000603	Central scotoma	3	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0000505	HP:0030517	Heteronymous hemianopia	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000505	HP:0030591	Abnormal kinetic perimetry test	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0000505	HP:0007994	Peripheral visual field loss	3	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000505	HP:0030517	Heteronymous hemianopia	3	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		276
HP:0000505	HP:0030534	Abnormal best corrected visual acuity test	3	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040281 - Very frequent		20
HP:0000505	HP:0000603	Central scotoma	3	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000505	HP:0007994	Peripheral visual field loss	3	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000505	HP:0030517	Heteronymous hemianopia	3	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0000505	HP:0030517	Heteronymous hemianopia	3	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000505	HP:0007875	Congenital blindness	3	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0000505	HP:0000603	Central scotoma	3	CFAP410 CL E G H	755	1260	OMIM:617547	Retinal dystrophy with or without macular staphyloma	.
HP:0000505	HP:0030528	Paracentral scotoma	3	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		86
HP:0000505	HP:0030528	Paracentral scotoma	3	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		57
HP:0000505	HP:0007994	Peripheral visual field loss	3	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0000505	HP:0000603	Central scotoma	3	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		82
HP:0000505	HP:0007994	Peripheral visual field loss	3	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45	.		164
HP:0000505	HP:0000603	Central scotoma	3	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		194
HP:0000505	HP:0000603	Central scotoma	3	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		194
HP:0000505	HP:0000603	Central scotoma	3	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0000603	Central scotoma	3	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0007994	Peripheral visual field loss	3	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2	.		158
HP:0000505	HP:0000603	Central scotoma	3	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000505	HP:0030517	Heteronymous hemianopia	3	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		88
HP:0000505	HP:0007994	Peripheral visual field loss	3	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000505	HP:0007994	Peripheral visual field loss	3	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		101
HP:0000505	HP:0000603	Central scotoma	3	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare		101
HP:0000505	HP:0030528	Paracentral scotoma	3	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy	.		126
HP:0000505	HP:0000603	Central scotoma	3	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional		126
HP:0000505	HP:0030528	Paracentral scotoma	3	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional		126
HP:0000505	HP:0000603	Central scotoma	3	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0007994	Peripheral visual field loss	3	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040283 - Occasional		82
HP:0000505	HP:0000576	Centrocecal scotoma	3	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000505	HP:0000603	Central scotoma	3	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0000603	Central scotoma	3	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000505	HP:0000603	Central scotoma	3	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040283 - Occasional		94
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.		94
HP:0000505	HP:0000603	Central scotoma	3	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.		94
HP:0000505	HP:0030528	Paracentral scotoma	3	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		54
HP:0000505	HP:0000603	Central scotoma	3	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare		54
HP:0000505	HP:0007994	Peripheral visual field loss	3	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		54
HP:0000505	HP:0000603	Central scotoma	3	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		62
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent		76
HP:0000505	HP:0000603	Central scotoma	3	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0000505	HP:0030529	Ring scotoma	3	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0000505	HP:0032284	Ultra-low vision with retained motion projection	3	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17			64
HP:0000505	HP:0000603	Central scotoma	3	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		19
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		24
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		124
HP:0000505	HP:0007994	Peripheral visual field loss	3	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.		124
HP:0000505	HP:0030528	Paracentral scotoma	3	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92			2
HP:0000505	HP:0030530	Arcuate scotoma	3	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040283 - Occasional		4
HP:0000505	HP:0032286	Ultra-low vision with retained light perception	3	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000505	HP:0007994	Peripheral visual field loss	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0000505	HP:0007994	Peripheral visual field loss	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0000505	HP:0007994	Peripheral visual field loss	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000505	HP:0000603	Central scotoma	3	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5	.		120
HP:0000505	HP:0000603	Central scotoma	3	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities	.		3
HP:0000505	HP:0007994	Peripheral visual field loss	3	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		70
HP:0000505	HP:0000603	Central scotoma	3	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type	.
HP:0000505	HP:0007875	Congenital blindness	3	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0000505	HP:0007994	Peripheral visual field loss	3	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		62
HP:0000505	HP:0007875	Congenital blindness	3	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent		125
HP:0000505	HP:0030551	Visual acuity light perception with projection	3	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional		125
HP:0000505	HP:0030517	Heteronymous hemianopia	3	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0000505	HP:0000603	Central scotoma	3	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0000505	HP:0000603	Central scotoma	3	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement	.		120
HP:0000505	HP:0000603	Central scotoma	3	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0000505	HP:0007994	Peripheral visual field loss	3	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		47
HP:0000505	HP:0000603	Central scotoma	3	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare		47
HP:0000505	HP:0000576	Centrocecal scotoma	3	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000505	HP:0000603	Central scotoma	3	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0000603	Central scotoma	3	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0000603	Central scotoma	3	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0000603	Central scotoma	3	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0000576	Centrocecal scotoma	3	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0000603	Central scotoma	3	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0000603	Central scotoma	3	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000505	HP:0000576	Centrocecal scotoma	3	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0000505	HP:0000576	Centrocecal scotoma	3	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent		65
HP:0000505	HP:0000603	Central scotoma	3	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent		65
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent		65
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0000505	HP:0030591	Abnormal kinetic perimetry test	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0000505	HP:0030517	Heteronymous hemianopia	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000505	HP:0032286	Ultra-low vision with retained light perception	3	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000505	HP:0007875	Congenital blindness	3	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040283 - Occasional		2
HP:0000505	HP:0000603	Central scotoma	3	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040283 - Occasional		214
HP:0000505	HP:0000603	Central scotoma	3	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.		214
HP:0000505	HP:0000576	Centrocecal scotoma	3	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.		214
HP:0000505	HP:0000603	Central scotoma	3	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000505	HP:0000576	Centrocecal scotoma	3	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000505	HP:0000603	Central scotoma	3	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040282 - Frequent		163
HP:0000505	HP:0030534	Abnormal best corrected visual acuity test	3	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040281 - Very frequent		194
HP:0000505	HP:0007994	Peripheral visual field loss	3	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0000505	HP:0000603	Central scotoma	3	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		80
HP:0000505	HP:0000603	Central scotoma	3	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		14
HP:0000505	HP:0030591	Abnormal kinetic perimetry test	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0000505	HP:0030517	Heteronymous hemianopia	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000505	HP:0030517	Heteronymous hemianopia	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000505	HP:0030591	Abnormal kinetic perimetry test	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0000505	HP:0000603	Central scotoma	3	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5			135
HP:0000505	HP:0000603	Central scotoma	3	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	.		3
HP:0000505	HP:0007994	Peripheral visual field loss	3	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000505	HP:0000603	Central scotoma	3	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000505	HP:0000603	Central scotoma	3	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2	.		110
HP:0000505	HP:0007994	Peripheral visual field loss	3	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000505	HP:0000603	Central scotoma	3	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		110
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		159
HP:0000505	HP:0007994	Peripheral visual field loss	3	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		159
HP:0000505	HP:0000603	Central scotoma	3	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		159
HP:0000505	HP:0000603	Central scotoma	3	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		159
HP:0000505	HP:0000603	Central scotoma	3	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18	.		6
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11	.		52
HP:0000505	HP:0000603	Central scotoma	3	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66	.		108
HP:0000505	HP:0007875	Congenital blindness	3	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12	.	HP:0003577 - Congenital onset	95
HP:0000505	HP:0007994	Peripheral visual field loss	3	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		32
HP:0000505	HP:0000603	Central scotoma	3	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		32
HP:0000505	HP:0000603	Central scotoma	3	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		107
HP:0000505	HP:0007994	Peripheral visual field loss	3	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		107
HP:0000505	HP:0030528	Paracentral scotoma	3	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional		47
HP:0000505	HP:0030529	Ring scotoma	3	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional		47
HP:0000505	HP:0000603	Central scotoma	3	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional		47
HP:0000505	HP:0000603	Central scotoma	3	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		47
HP:0000505	HP:0007994	Peripheral visual field loss	3	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		47
HP:0000505	HP:0007994	Peripheral visual field loss	3	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0000505	HP:0007761	Pericentral scotoma	3	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000505	HP:0000603	Central scotoma	3	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000505	HP:0030529	Ring scotoma	3	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000505	HP:0007994	Peripheral visual field loss	3	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87			129
HP:0000505	HP:0007994	Peripheral visual field loss	3	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		129
HP:0000505	HP:0000603	Central scotoma	3	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		200
HP:0000505	HP:0030529	Ring scotoma	3	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000505	HP:0007994	Peripheral visual field loss	3	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000505	HP:0000603	Central scotoma	3	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000505	HP:0007875	Congenital blindness	3	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0000505	HP:0007994	Peripheral visual field loss	3	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000505	HP:0007994	Peripheral visual field loss	3	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10	.		48
HP:0000505	HP:0007994	Peripheral visual field loss	3	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040284 - Very rare		493
HP:0000505	HP:0007994	Peripheral visual field loss	3	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000505	HP:0030517	Heteronymous hemianopia	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0000505	HP:0030591	Abnormal kinetic perimetry test	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0000505	HP:0030517	Heteronymous hemianopia	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0000505	HP:0030591	Abnormal kinetic perimetry test	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0000505	HP:0030517	Heteronymous hemianopia	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0000505	HP:0030591	Abnormal kinetic perimetry test	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0000505	HP:0007994	Peripheral visual field loss	3	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		48
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0000505	HP:0030517	Heteronymous hemianopia	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000505	HP:0030591	Abnormal kinetic perimetry test	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0000505	HP:0030591	Abnormal kinetic perimetry test	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0000505	HP:0030517	Heteronymous hemianopia	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040283 - Occasional		58
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy	HP:0040281 - Very frequent		58
HP:0000505	HP:0000603	Central scotoma	3	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional		15
HP:0000505	HP:0000603	Central scotoma	3	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000505	HP:0007924	Slow decrease in visual acuity	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0000505	HP:0030517	Heteronymous hemianopia	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000505	HP:0030591	Abnormal kinetic perimetry test	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0000505	HP:0030529	Ring scotoma	3	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0000505	HP:0030534	Abnormal best corrected visual acuity test	3	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0000505	HP:0007875	Congenital blindness	3	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040283 - Occasional		9
HP:0000505	HP:0007994	Peripheral visual field loss	3	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.		27
HP:0000505	HP:0030581	Pinhole visual acuity 1.3 LogMAR	4	CL E G H
HP:0000505	HP:0030547	Unaided visual acuity 1.2 LogMAR	4	CL E G H
HP:0000505	HP:0030568	Best corrected visual acuity 3.0 LogMAR	4	CL E G H
HP:0000505	HP:0030593	Abnormal manual kinetic perimetry test	4	CL E G H
HP:0000505	HP:0030555	Best corrected visual acuity 0.2 LogMAR	4	CL E G H
HP:0000505	HP:0030574	Pinhole visual acuity 0.6 LogMAR	4	CL E G H
HP:0000505	HP:0030540	Unaided visual acuity 0.5 LogMAR	4	CL E G H
HP:0000505	HP:0030561	Best corrected visual acuity 0.8 LogMAR	4	CL E G H
HP:0000505	HP:0030519	Congruous heteronymous hemianopia	4	CL E G H
HP:0000505	HP:0030580	Pinhole visual acuity 1.2 LogMAR	4	CL E G H
HP:0000505	HP:0030546	Unaided visual acuity 1.1 LogMAR	4	CL E G H
HP:0000505	HP:0030567	Best corrected visual acuity 2.0 LogMAR	4	CL E G H
HP:0000505	HP:0030554	Best corrected visual acuity 0.1 LogMAR	4	CL E G H
HP:0000505	HP:0030539	Unaided visual acuity 0.4 LogMAR	4	CL E G H
HP:0000505	HP:0030573	Pinhole visual acuity 0.5 LogMAR	4	CL E G H
HP:0000505	HP:0030560	Best corrected visual acuity 0.6 LogMAR	4	CL E G H
HP:0000505	HP:0030518	Congruous homonymous hemianopia	4	CL E G H
HP:0000505	HP:0030579	Pinhole visual acuity 1.1 LogMAR	4	CL E G H
HP:0000505	HP:0030545	Unaided visual acuity 1.0 LogMAR	4	CL E G H
HP:0000505	HP:0030566	Best corrected visual acuity 1.3 LogMAR	4	CL E G H
HP:0000505	HP:0030538	Unaided visual acuity 0.3 LogMAR	4	CL E G H
HP:0000505	HP:0030572	Pinhole visual acuity 0.4 LogMAR	4	CL E G H
HP:0000505	HP:0030559	Best corrected visual acuity 0.7 LogMAR	4	CL E G H
HP:0000505	HP:0030578	Pinhole visual acuity 1.0 LogMAR	4	CL E G H
HP:0000505	HP:0030544	Unaided visual acuity 0.9 LogMAR	4	CL E G H
HP:0000505	HP:0030565	Best corrected visual acuity 1.2 LogMAR	4	CL E G H
HP:0000505	HP:0030550	Unaided visual acuity 3.0 LogMAR	4	CL E G H
HP:0000505	HP:0030571	Pinhole visual acuity 0.3 LogMAR	4	CL E G H
HP:0000505	HP:0030537	Unaided visual acuity 0.2 LogMAR	4	CL E G H
HP:0000505	HP:0030558	Best corrected visual acuity 0.5 LogMAR	4	CL E G H
HP:0000505	HP:0030577	Pinhole visual acuity 0.9 LogMAR	4	CL E G H
HP:0000505	HP:0030543	Unaided visual acuity 0.8 LogMAR	4	CL E G H
HP:0000505	HP:0030564	Best corrected visual acuity 1.1 LogMAR	4	CL E G H
HP:0000505	HP:0030583	Pinhole visual acuity 3.0 LogMAR	4	CL E G H
HP:0000505	HP:0030549	Unaided visual acuity 2.0 LogMAR	4	CL E G H
HP:0000505	HP:0030570	Pinhole visual acuity 0.2 LogMAR	4	CL E G H
HP:0000505	HP:0030536	Unaided visual acuity 0.1 LogMAR	4	CL E G H
HP:0000505	HP:0030557	Best corrected visual acuity 0.4 LogMAR	4	CL E G H
HP:0000505	HP:0030595	Abnormal static automated perimetry test	4	CL E G H
HP:0000505	HP:0030576	Pinhole visual acuity 0.8 LogMAR	4	CL E G H
HP:0000505	HP:0030542	Unaided visual acuity 0.7 LogMAR	4	CL E G H
HP:0000505	HP:0030563	Best corrected visual acuity 1.0 LogMAR	4	CL E G H
HP:0000505	HP:0030582	Pinhole visual acuity 2.0 LogMAR	4	CL E G H
HP:0000505	HP:0030548	Unaided visual acuity 1.3 LogMAR	4	CL E G H
HP:0000505	HP:0030569	Pinhole visual acuity 0.1 LogMAR	4	CL E G H
HP:0000505	HP:0030594	Abnormal automated kinetic perimetry test	4	CL E G H
HP:0000505	HP:0030556	Best corrected visual acuity 0.3 LogMAR	4	CL E G H
HP:0000505	HP:0030575	Pinhole visual acuity 0.7 LogMAR	4	CL E G H
HP:0000505	HP:0030541	Unaided visual acuity 0.6 LogMAR	4	CL E G H
HP:0000505	HP:0030562	Best corrected visual acuity 0.9 LogMAR	4	CL E G H
HP:0000505	HP:0030520	Binasal hemianopia	4	CL E G H
HP:0000505	HP:0030521	Bitemporal hemianopia	4	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0000505	HP:0030521	Bitemporal hemianopia	4	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent		54
HP:0000505	HP:0030521	Bitemporal hemianopia	4	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent		184
HP:0000505	HP:0030521	Bitemporal hemianopia	4	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		276
HP:0000505	HP:0030521	Bitemporal hemianopia	4	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0000505	HP:0030521	Bitemporal hemianopia	4	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000505	HP:0030521	Bitemporal hemianopia	4	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		88
HP:0000505	HP:0030521	Bitemporal hemianopia	4	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0000505	HP:0030521	Bitemporal hemianopia	4	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent		220
HP:0000505	HP:0030521	Bitemporal hemianopia	4	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent		9
HP:0000505	HP:0030521	Bitemporal hemianopia	4	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent		162
HP:0000505	HP:0030521	Bitemporal hemianopia	4	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent		87
HP:0000505	HP:0030521	Bitemporal hemianopia	4	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent		47
HP:0000505	HP:0030521	Bitemporal hemianopia	4	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent		22
HP:0000505	HP:0030521	Bitemporal hemianopia	4	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent		124
HP:0000505	HP:0030521	Bitemporal hemianopia	4	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent		238
HP:0000505	HP:0030521	Bitemporal hemianopia	4	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0000505	HP:0030599	Abnormal Estermann grid perimetry test	5	CL E G H
HP:0000505	HP:0030598	Abnormal Humphrey SITA 10-2 perimetry test	5	CL E G H
HP:0000505	HP:0030597	Abnormal Humphrey SITA 24-2 perimetry test	5	CL E G H
HP:0000505	HP:0030596	Abnormal Humphrey SITA 30-2 perimetry test	5	CL E G H