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:0000504	HP:0000504	Abnormality of vision	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome			57
HP:0000504	HP:0000504	Abnormality of vision	0	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0000504	HP:0000504	Abnormality of vision	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000504	HP:0000504	Abnormality of vision	0	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency			191
HP:0000504	HP:0000504	Abnormality of vision	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0000504	HP:0000504	Abnormality of vision	0	ABCA4 CL E G H	24	34	ORPHA:1872	Cone rod dystrophy			826
HP:0000504	HP:0000504	Abnormality of vision	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000504	HP:0000504	Abnormality of vision	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0000504	HP:0000504	Abnormality of vision	0	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19			826
HP:0000504	HP:0000504	Abnormality of vision	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease			826
HP:0000504	HP:0000504	Abnormality of vision	0	ABCA7 CL E G H	10347	37	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0000504	HP:0000504	Abnormality of vision	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0000504	HP:0000504	Abnormality of vision	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste			415
HP:0000504	HP:0000504	Abnormality of vision	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0000504	HP:0000504	Abnormality of vision	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0000504	HP:0000504	Abnormality of vision	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0000504	HP:0000504	Abnormality of vision	0	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9			60
HP:0000504	HP:0000504	Abnormality of vision	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0000504	HP:0000504	Abnormality of vision	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		2
HP:0000504	HP:0000504	Abnormality of vision	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0000504	HP:0000504	Abnormality of vision	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome			22
HP:0000504	HP:0000504	Abnormality of vision	0	ADAM9 CL E G H	8754	216	ORPHA:1872	Cone rod dystrophy			41
HP:0000504	HP:0000504	Abnormality of vision	0	ADAM9 CL E G H	8754	216	OMIM:612775	Cone-Rod dystrophy 9			41
HP:0000504	HP:0000504	Abnormality of vision	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0000504	HP:0000504	Abnormality of vision	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0000504	HP:0000504	Abnormality of vision	0	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis			84
HP:0000504	HP:0000504	Abnormality of vision	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0000504	HP:0000504	Abnormality of vision	0	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000504	HP:0000504	Abnormality of vision	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000504	HP:0000504	Abnormality of vision	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome			47
HP:0000504	HP:0000504	Abnormality of vision	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000504	HP:0000504	Abnormality of vision	0	ADRA2B CL E G H	151	282	ORPHA:86814	Benign adult familial myoclonic epilepsy			3
HP:0000504	HP:0000504	Abnormality of vision	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000504	HP:0000504	Abnormality of vision	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:0000504	HP:0000504	Abnormality of vision	0	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12			86
HP:0000504	HP:0000504	Abnormality of vision	0	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000504	HP:0000504	Abnormality of vision	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0000504	HP:0000504	Abnormality of vision	0	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75			2
HP:0000504	HP:0000504	Abnormality of vision	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000504	HP:0000504	Abnormality of vision	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0000504	HP:0000504	Abnormality of vision	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000504	HP:0000504	Abnormality of vision	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000504	HP:0000504	Abnormality of vision	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000504	HP:0000504	Abnormality of vision	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0000504	HP:0000504	Abnormality of vision	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0000504	HP:0000504	Abnormality of vision	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0000504	HP:0000504	Abnormality of vision	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0000504	HP:0000504	Abnormality of vision	0	AHR CL E G H	196	348	OMIM:618345	RETINITIS PIGMENTOSA 85; RP85			2
HP:0000504	HP:0000504	Abnormality of vision	0	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome			5
HP:0000504	HP:0000504	Abnormality of vision	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome			60
HP:0000504	HP:0000504	Abnormality of vision	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0000504	HP:0000504	Abnormality of vision	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000504	HP:0000504	Abnormality of vision	0	AIPL1 CL E G H	23746	359	ORPHA:1872	Cone rod dystrophy			114
HP:0000504	HP:0000504	Abnormality of vision	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis			114
HP:0000504	HP:0000504	Abnormality of vision	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0000504	HP:0000504	Abnormality of vision	0	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa			114
HP:0000504	HP:0000504	Abnormality of vision	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000504	HP:0000504	Abnormality of vision	0	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1			92
HP:0000504	HP:0000504	Abnormality of vision	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0000504	HP:0000504	Abnormality of vision	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000504	HP:0000504	Abnormality of vision	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly			19
HP:0000504	HP:0000504	Abnormality of vision	0	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome			87
HP:0000504	HP:0000504	Abnormality of vision	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0000504	HP:0000504	Abnormality of vision	0	ALG11 CL E G H	440138	32456	ORPHA:280071	ALG11-CDG	HP:0040282 - Frequent		41
HP:0000504	HP:0000504	Abnormality of vision	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0000504	HP:0000504	Abnormality of vision	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000504	HP:0000504	Abnormality of vision	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000504	HP:0000504	Abnormality of vision	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000504	HP:0000504	Abnormality of vision	0	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0000504	HP:0000504	Abnormality of vision	0	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency			44
HP:0000504	HP:0000504	Abnormality of vision	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0000504	HP:0000504	Abnormality of vision	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9			21
HP:0000504	HP:0000504	Abnormality of vision	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm
HP:0000504	HP:0000504	Abnormality of vision	0	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0000504	HP:0000504	Abnormality of vision	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0000504	HP:0000504	Abnormality of vision	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0000504	HP:0000504	Abnormality of vision	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0000504	HP:0000504	Abnormality of vision	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0000504	HP:0000504	Abnormality of vision	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0000504	HP:0000504	Abnormality of vision	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0000504	HP:0000504	Abnormality of vision	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0000504	HP:0000504	Abnormality of vision	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000504	HP:0000504	Abnormality of vision	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000504	HP:0000504	Abnormality of vision	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		7
HP:0000504	HP:0000504	Abnormality of vision	0	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness			1
HP:0000504	HP:0000504	Abnormality of vision	0	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism			1
HP:0000504	HP:0000504	Abnormality of vision	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0000504	HP:0000504	Abnormality of vision	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0000504	HP:0000504	Abnormality of vision	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0000504	HP:0000504	Abnormality of vision	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0000504	HP:0000504	Abnormality of vision	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0000504	HP:0000504	Abnormality of vision	0	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency			40
HP:0000504	HP:0000504	Abnormality of vision	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1			39
HP:0000504	HP:0000504	Abnormality of vision	0	APP CL E G H	351	620	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		74
HP:0000504	HP:0000504	Abnormality of vision	0	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8			3
HP:0000504	HP:0000504	Abnormality of vision	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0000504	HP:0000504	Abnormality of vision	0	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78			6
HP:0000504	HP:0000504	Abnormality of vision	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000504	HP:0000504	Abnormality of vision	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0000504	HP:0000504	Abnormality of vision	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2			88
HP:0000504	HP:0000504	Abnormality of vision	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040282 - Frequent		219
HP:0000504	HP:0000504	Abnormality of vision	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0000504	HP:0000504	Abnormality of vision	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0000504	HP:0000504	Abnormality of vision	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0000504	HP:0000504	Abnormality of vision	0	ARL2 CL E G H	402	693	OMIM:619082	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0000504	HP:0000504	Abnormality of vision	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0000504	HP:0000504	Abnormality of vision	0	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus			3
HP:0000504	HP:0000504	Abnormality of vision	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000504	HP:0000504	Abnormality of vision	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0000504	HP:0000504	Abnormality of vision	0	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0000504	HP:0000504	Abnormality of vision	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000504	HP:0000504	Abnormality of vision	0	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0000504	HP:0000504	Abnormality of vision	0	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa			29
HP:0000504	HP:0000504	Abnormality of vision	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0000504	HP:0000504	Abnormality of vision	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0000504	HP:0000504	Abnormality of vision	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0000504	HP:0000504	Abnormality of vision	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000504	HP:0000504	Abnormality of vision	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0000504	HP:0000504	Abnormality of vision	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0000504	HP:0000504	Abnormality of vision	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0000504	HP:0000504	Abnormality of vision	0	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000504	HP:0000504	Abnormality of vision	0	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000504	HP:0000504	Abnormality of vision	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000504	HP:0000504	Abnormality of vision	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0000504	HP:0000504	Abnormality of vision	0	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia			166
HP:0000504	HP:0000504	Abnormality of vision	0	ASB10 CL E G H	136371	17185	OMIM:603383	GLAUCOMA 1, OPEN ANGLE, F; GLC1F			54
HP:0000504	HP:0000504	Abnormality of vision	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0000504	HP:0000504	Abnormality of vision	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000504	HP:0000504	Abnormality of vision	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0000504	HP:0000504	Abnormality of vision	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs			4
HP:0000504	HP:0000504	Abnormality of vision	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0000504	HP:0000504	Abnormality of vision	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000504	HP:0000504	Abnormality of vision	0	ATF6 CL E G H	22926	791	ORPHA:1872	Cone rod dystrophy			10
HP:0000504	HP:0000504	Abnormality of vision	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0000504	HP:0000504	Abnormality of vision	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0000504	HP:0000504	Abnormality of vision	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0000504	HP:0000504	Abnormality of vision	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000504	HP:0000504	Abnormality of vision	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000504	HP:0000504	Abnormality of vision	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000504	HP:0000504	Abnormality of vision	0	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0000504	HP:0000504	Abnormality of vision	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		239
HP:0000504	HP:0000504	Abnormality of vision	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0000504	HP:0000504	Abnormality of vision	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		150
HP:0000504	HP:0000504	Abnormality of vision	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000504	Abnormality of vision	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000504	Abnormality of vision	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0000504	HP:0000504	Abnormality of vision	0	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0000504	HP:0000504	Abnormality of vision	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0000504	HP:0000504	Abnormality of vision	0	ATP8A2 CL E G H	51761	13533	ORPHA:1766	Dysequilibrium syndrome	HP:0040283 - Occasional		24
HP:0000504	HP:0000504	Abnormality of vision	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0000504	HP:0000504	Abnormality of vision	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0000504	HP:0000504	Abnormality of vision	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000504	HP:0000504	Abnormality of vision	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0000504	HP:0000504	Abnormality of vision	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0000504	HP:0000504	Abnormality of vision	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0000504	HP:0000504	Abnormality of vision	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:0000504	HP:0000504	Abnormality of vision	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0000504	HP:0000504	Abnormality of vision	0	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease			43
HP:0000504	HP:0000504	Abnormality of vision	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11			43
HP:0000504	HP:0000504	Abnormality of vision	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:0000504	HP:0000504	Abnormality of vision	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent		36
HP:0000504	HP:0000504	Abnormality of vision	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0000504	HP:0000504	Abnormality of vision	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000504	HP:0000504	Abnormality of vision	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma			184
HP:0000504	HP:0000504	Abnormality of vision	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000504	HP:0000504	Abnormality of vision	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0000504	HP:0000504	Abnormality of vision	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0000504	HP:0000504	Abnormality of vision	0	BBS2 CL E G H	583	967	OMIM:616562	Retinitis pigmentosa 74			97
HP:0000504	HP:0000504	Abnormality of vision	0	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4			87
HP:0000504	HP:0000504	Abnormality of vision	0	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5			25
HP:0000504	HP:0000504	Abnormality of vision	0	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma			18
HP:0000504	HP:0000504	Abnormality of vision	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type			101
HP:0000504	HP:0000504	Abnormality of vision	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000504	HP:0000504	Abnormality of vision	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000504	HP:0000504	Abnormality of vision	0	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome			5
HP:0000504	HP:0000504	Abnormality of vision	0	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent		182
HP:0000504	HP:0000504	Abnormality of vision	0	BEST1 CL E G H	7439	12703	ORPHA:1243	Best vitelliform macular dystrophy			182
HP:0000504	HP:0000504	Abnormality of vision	0	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0000504	HP:0000504	Abnormality of vision	0	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2			182
HP:0000504	HP:0000504	Abnormality of vision	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0000504	HP:0000504	Abnormality of vision	0	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50			182
HP:0000504	HP:0000504	Abnormality of vision	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY			182
HP:0000504	HP:0000504	Abnormality of vision	0	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma
HP:0000504	HP:0000504	Abnormality of vision	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8			42
HP:0000504	HP:0000504	Abnormality of vision	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000504	HP:0000504	Abnormality of vision	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000504	HP:0000504	Abnormality of vision	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0000504	HP:0000504	Abnormality of vision	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0000504	HP:0000504	Abnormality of vision	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0000504	HP:0000504	Abnormality of vision	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000504	HP:0000504	Abnormality of vision	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000504	HP:0000504	Abnormality of vision	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0000504	HP:0000504	Abnormality of vision	0	BRAT1 CL E G H	221927	21701	OMIM:618056	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures			20
HP:0000504	HP:0000504	Abnormality of vision	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0000504	HP:0000504	Abnormality of vision	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0000504	HP:0000504	Abnormality of vision	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0000504	HP:0000504	Abnormality of vision	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0000504	HP:0000504	Abnormality of vision	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0000504	HP:0000504	Abnormality of vision	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0000504	HP:0000504	Abnormality of vision	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0000504	HP:0000504	Abnormality of vision	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		5
HP:0000504	HP:0000504	Abnormality of vision	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		76
HP:0000504	HP:0000504	Abnormality of vision	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000504	Abnormality of vision	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0000504	HP:0000504	Abnormality of vision	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000504	HP:0000504	Abnormality of vision	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000504	HP:0000504	Abnormality of vision	0	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration			20
HP:0000504	HP:0000504	Abnormality of vision	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0000504	HP:0000504	Abnormality of vision	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0000504	HP:0000504	Abnormality of vision	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0000504	HP:0000504	Abnormality of vision	0	CA8 CL E G H	767	1382	ORPHA:1766	Dysequilibrium syndrome	HP:0040283 - Occasional		8
HP:0000504	HP:0000504	Abnormality of vision	0	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000504	HP:0000504	Abnormality of vision	0	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2			449
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia			449
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1			449
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		449
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040282 - Frequent		449
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements			5
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		5
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease			58
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease			58
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1F CL E G H	778	1393	ORPHA:1872	Cone rod dystrophy			58
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		59
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA2D4 CL E G H	93589	20202	ORPHA:1872	Cone rod dystrophy			129
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0000504	HP:0000504	Abnormality of vision	0	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0000504	HP:0000504	Abnormality of vision	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia			1
HP:0000504	HP:0000504	Abnormality of vision	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0000504	HP:0000504	Abnormality of vision	0	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory			6
HP:0000504	HP:0000504	Abnormality of vision	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0000504	HP:0000504	Abnormality of vision	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0000504	HP:0000504	Abnormality of vision	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0000504	HP:0000504	Abnormality of vision	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type			118
HP:0000504	HP:0000504	Abnormality of vision	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		3
HP:0000504	HP:0000504	Abnormality of vision	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0000504	HP:0000504	Abnormality of vision	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0000504	HP:0000504	Abnormality of vision	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0000504	HP:0000504	Abnormality of vision	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0000504	HP:0000504	Abnormality of vision	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000504	HP:0000504	Abnormality of vision	0	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93			247
HP:0000504	HP:0000504	Abnormality of vision	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000504	HP:0000504	Abnormality of vision	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0000504	HP:0000504	Abnormality of vision	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0000504	HP:0000504	Abnormality of vision	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0000504	HP:0000504	Abnormality of vision	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			8
HP:0000504	HP:0000504	Abnormality of vision	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000504	HP:0000504	Abnormality of vision	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000504	HP:0000504	Abnormality of vision	0	CDH1 CL E G H	999	1748	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040282 - Frequent		1003
HP:0000504	HP:0000504	Abnormality of vision	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0000504	HP:0000504	Abnormality of vision	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000504	HP:0000504	Abnormality of vision	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000504	HP:0000504	Abnormality of vision	0	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000504	HP:0000504	Abnormality of vision	0	CDH3 CL E G H	1001	1762	ORPHA:1897	EEM syndrome	HP:0040282 - Frequent		87
HP:0000504	HP:0000504	Abnormality of vision	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0000504	HP:0000504	Abnormality of vision	0	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0000504	HP:0000504	Abnormality of vision	0	CDHR1 CL E G H	92211	14550	ORPHA:1872	Cone rod dystrophy			147
HP:0000504	HP:0000504	Abnormality of vision	0	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000504	HP:0000504	Abnormality of vision	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0000504	HP:0000504	Abnormality of vision	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000504	HP:0000504	Abnormality of vision	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000504	HP:0000504	Abnormality of vision	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0000504	HP:0000504	Abnormality of vision	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0000504	HP:0000504	Abnormality of vision	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0000504	HP:0000504	Abnormality of vision	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0000504	HP:0000504	Abnormality of vision	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0000504	HP:0000504	Abnormality of vision	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000504	HP:0000504	Abnormality of vision	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0000504	HP:0000504	Abnormality of vision	0	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15			34
HP:0000504	HP:0000504	Abnormality of vision	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0000504	HP:0000504	Abnormality of vision	0	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000504	HP:0000504	Abnormality of vision	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0000504	HP:0000504	Abnormality of vision	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000504	HP:0000504	Abnormality of vision	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis			342
HP:0000504	HP:0000504	Abnormality of vision	0	CEP290 CL E G H	80184	29021	OMIM:611755	Leber congenital amaurosis 10			342
HP:0000504	HP:0000504	Abnormality of vision	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0000504	HP:0000504	Abnormality of vision	0	CEP290 CL E G H	80184	29021	OMIM:610189	Senior-Loken syndrome 6			342
HP:0000504	HP:0000504	Abnormality of vision	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0000504	HP:0000504	Abnormality of vision	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		17
HP:0000504	HP:0000504	Abnormality of vision	0	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000504	HP:0000504	Abnormality of vision	0	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000504	HP:0000504	Abnormality of vision	0	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0000504	HP:0000504	Abnormality of vision	0	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0000504	HP:0000504	Abnormality of vision	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0000504	HP:0000504	Abnormality of vision	0	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0000504	HP:0000504	Abnormality of vision	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0000504	HP:0000504	Abnormality of vision	0	CFAP410 CL E G H	755	1260	ORPHA:1872	Cone rod dystrophy
HP:0000504	HP:0000504	Abnormality of vision	0	CFAP410 CL E G H	755	1260	OMIM:617547	Retinal dystrophy with or without macular staphyloma
HP:0000504	HP:0000504	Abnormality of vision	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000504	HP:0000504	Abnormality of vision	0	CFAP418 CL E G H	157657	27232	ORPHA:1872	Cone rod dystrophy
HP:0000504	HP:0000504	Abnormality of vision	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000504	HP:0000504	Abnormality of vision	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0000504	HP:0000504	Abnormality of vision	0	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa
HP:0000504	HP:0000504	Abnormality of vision	0	CFH CL E G H	3075	4883	OMIM:126700	Basal laminar drusen			86
HP:0000504	HP:0000504	Abnormality of vision	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen			86
HP:0000504	HP:0000504	Abnormality of vision	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000504	HP:0000504	Abnormality of vision	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000504	HP:0000504	Abnormality of vision	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen			57
HP:0000504	HP:0000504	Abnormality of vision	0	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13			57
HP:0000504	HP:0000504	Abnormality of vision	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000504	HP:0000504	Abnormality of vision	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0000504	HP:0000504	Abnormality of vision	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		515
HP:0000504	HP:0000504	Abnormality of vision	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0000504	HP:0000504	Abnormality of vision	0	CHKA CL E G H	1119	1937	OMIM:620023
HP:0000504	HP:0000504	Abnormality of vision	0	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA			47
HP:0000504	HP:0000504	Abnormality of vision	0	CHM CL E G H	1121	1940	ORPHA:180	Choroideremia	HP:0040281 - Very frequent		47
HP:0000504	HP:0000504	Abnormality of vision	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000504	HP:0000504	Abnormality of vision	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000504	HP:0000504	Abnormality of vision	0	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2			35
HP:0000504	HP:0000504	Abnormality of vision	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0000504	HP:0000504	Abnormality of vision	0	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA			9
HP:0000504	HP:0000504	Abnormality of vision	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0000504	HP:0000504	Abnormality of vision	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0000504	HP:0000504	Abnormality of vision	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0000504	HP:0000504	Abnormality of vision	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0000504	HP:0000504	Abnormality of vision	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:0000504	HP:0000504	Abnormality of vision	0	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy			129
HP:0000504	HP:0000504	Abnormality of vision	0	CHST6 CL E G H	4166	6938	OMIM:217800	Macular dystrophy, corneal, 1			129
HP:0000504	HP:0000504	Abnormality of vision	0	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000504	HP:0000504	Abnormality of vision	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0000504	HP:0000504	Abnormality of vision	0	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0000504	HP:0000504	Abnormality of vision	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia			44
HP:0000504	HP:0000504	Abnormality of vision	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0000504	HP:0000504	Abnormality of vision	0	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0000504	HP:0000504	Abnormality of vision	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000504	HP:0000504	Abnormality of vision	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0000504	HP:0000504	Abnormality of vision	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0000504	HP:0000504	Abnormality of vision	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0000504	HP:0000504	Abnormality of vision	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0000504	HP:0000504	Abnormality of vision	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2			102
HP:0000504	HP:0000504	Abnormality of vision	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4			102
HP:0000504	HP:0000504	Abnormality of vision	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0000504	HP:0000504	Abnormality of vision	0	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0000504	HP:0000504	Abnormality of vision	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		3
HP:0000504	HP:0000504	Abnormality of vision	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0000504	HP:0000504	Abnormality of vision	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000504	HP:0000504	Abnormality of vision	0	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5			141
HP:0000504	HP:0000504	Abnormality of vision	0	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease			141
HP:0000504	HP:0000504	Abnormality of vision	0	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6			143
HP:0000504	HP:0000504	Abnormality of vision	0	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8			111
HP:0000504	HP:0000504	Abnormality of vision	0	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0000504	HP:0000504	Abnormality of vision	0	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10			7
HP:0000504	HP:0000504	Abnormality of vision	0	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa			60
HP:0000504	HP:0000504	Abnormality of vision	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0000504	HP:0000504	Abnormality of vision	0	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0000504	HP:0000504	Abnormality of vision	0	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000504	HP:0000504	Abnormality of vision	0	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA			60
HP:0000504	HP:0000504	Abnormality of vision	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000504	HP:0000504	Abnormality of vision	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0000504	HP:0000504	Abnormality of vision	0	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040282 - Frequent
HP:0000504	HP:0000504	Abnormality of vision	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0000504	HP:0000504	Abnormality of vision	0	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa			44
HP:0000504	HP:0000504	Abnormality of vision	0	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0000504	HP:0000504	Abnormality of vision	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0000504	HP:0000504	Abnormality of vision	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000504	HP:0000504	Abnormality of vision	0	CNGA3 CL E G H	1261	2150	ORPHA:1872	Cone rod dystrophy			82
HP:0000504	HP:0000504	Abnormality of vision	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0000504	HP:0000504	Abnormality of vision	0	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45			164
HP:0000504	HP:0000504	Abnormality of vision	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0000504	HP:0000504	Abnormality of vision	0	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000504	HP:0000504	Abnormality of vision	0	CNGB3 CL E G H	54714	2153	ORPHA:1871	Progressive cone dystrophy			194
HP:0000504	HP:0000504	Abnormality of vision	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease			194
HP:0000504	HP:0000504	Abnormality of vision	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		18
HP:0000504	HP:0000504	Abnormality of vision	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000504	HP:0000504	Abnormality of vision	0	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome			61
HP:0000504	HP:0000504	Abnormality of vision	0	CNTN2 CL E G H	6900	2172	ORPHA:86814	Benign adult familial myoclonic epilepsy			9
HP:0000504	HP:0000504	Abnormality of vision	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0000504	HP:0000504	Abnormality of vision	0	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome			67
HP:0000504	HP:0000504	Abnormality of vision	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0000504	HP:0000504	Abnormality of vision	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0000504	HP:0000504	Abnormality of vision	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0000504	HP:0000504	Abnormality of vision	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0000504	HP:0000504	Abnormality of vision	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000504	HP:0000504	Abnormality of vision	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0000504	HP:0000504	Abnormality of vision	0	COL17A1 CL E G H	1308	2194	OMIM:122400	Epithelial recurrent erosion dystrophy			129
HP:0000504	HP:0000504	Abnormality of vision	0	COL18A1 CL E G H	80781	2195	OMIM:618880	GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC			177
HP:0000504	HP:0000504	Abnormality of vision	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome			177
HP:0000504	HP:0000504	Abnormality of vision	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000504	HP:0000504	Abnormality of vision	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000504	HP:0000504	Abnormality of vision	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0000504	HP:0000504	Abnormality of vision	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0000504	HP:0000504	Abnormality of vision	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0000504	HP:0000504	Abnormality of vision	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm			749
HP:0000504	HP:0000504	Abnormality of vision	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000504	HP:0000504	Abnormality of vision	0	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of			193
HP:0000504	HP:0000504	Abnormality of vision	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0000504	HP:0000504	Abnormality of vision	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0000504	HP:0000504	Abnormality of vision	0	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000504	HP:0000504	Abnormality of vision	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0000504	HP:0000504	Abnormality of vision	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000504	HP:0000504	Abnormality of vision	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000504	HP:0000504	Abnormality of vision	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0000504	HP:0000504	Abnormality of vision	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0000504	HP:0000504	Abnormality of vision	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0000504	HP:0000504	Abnormality of vision	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0000504	HP:0000504	Abnormality of vision	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0000504	HP:0000504	Abnormality of vision	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		5
HP:0000504	HP:0000504	Abnormality of vision	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000504	Abnormality of vision	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0000504	HP:0000504	Abnormality of vision	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0000504	HP:0000504	Abnormality of vision	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000504	Abnormality of vision	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000504	Abnormality of vision	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0000504	HP:0000504	Abnormality of vision	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0000504	HP:0000504	Abnormality of vision	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0000504	HP:0000504	Abnormality of vision	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0000504	HP:0000504	Abnormality of vision	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000504	HP:0000504	Abnormality of vision	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis			156
HP:0000504	HP:0000504	Abnormality of vision	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8			156
HP:0000504	HP:0000504	Abnormality of vision	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0000504	HP:0000504	Abnormality of vision	0	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000504	HP:0000504	Abnormality of vision	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000504	HP:0000504	Abnormality of vision	0	CRX CL E G H	1406	2383	ORPHA:1872	Cone rod dystrophy			158
HP:0000504	HP:0000504	Abnormality of vision	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000504	HP:0000504	Abnormality of vision	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis			158
HP:0000504	HP:0000504	Abnormality of vision	0	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7			158
HP:0000504	HP:0000504	Abnormality of vision	0	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa			158
HP:0000504	HP:0000504	Abnormality of vision	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0000504	HP:0000504	Abnormality of vision	0	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types			33
HP:0000504	HP:0000504	Abnormality of vision	0	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types			18
HP:0000504	HP:0000504	Abnormality of vision	0	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types			11
HP:0000504	HP:0000504	Abnormality of vision	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0000504	HP:0000504	Abnormality of vision	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000504	HP:0000504	Abnormality of vision	0	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0000504	HP:0000504	Abnormality of vision	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0000504	HP:0000504	Abnormality of vision	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0000504	HP:0000504	Abnormality of vision	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000504	HP:0000504	Abnormality of vision	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0000504	HP:0000504	Abnormality of vision	0	CTNND1 CL E G H	1500	2515	ORPHA:1997	Blepharo-cheilo-odontic syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000504	Abnormality of vision	0	CTNND2 CL E G H	1501	2516	ORPHA:86814	Benign adult familial myoclonic epilepsy			15
HP:0000504	HP:0000504	Abnormality of vision	0	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic			178
HP:0000504	HP:0000504	Abnormality of vision	0	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type			178
HP:0000504	HP:0000504	Abnormality of vision	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0000504	HP:0000504	Abnormality of vision	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0000504	HP:0000504	Abnormality of vision	0	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis			178
HP:0000504	HP:0000504	Abnormality of vision	0	CTNS CL E G H	1497	2518	ORPHA:411641	Ocular cystinosis			178
HP:0000504	HP:0000504	Abnormality of vision	0	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0000504	HP:0000504	Abnormality of vision	0	CTSH CL E G H	1512	2535	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent		1
HP:0000504	HP:0000504	Abnormality of vision	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0000504	HP:0000504	Abnormality of vision	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000504	HP:0000504	Abnormality of vision	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0000504	HP:0000504	Abnormality of vision	0	CYP1B1 CL E G H	1545	2597	ORPHA:98976	Congenital glaucoma			101
HP:0000504	HP:0000504	Abnormality of vision	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma			101
HP:0000504	HP:0000504	Abnormality of vision	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0000504	HP:0000504	Abnormality of vision	0	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000504	HP:0000504	Abnormality of vision	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0000504	HP:0000504	Abnormality of vision	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma			1
HP:0000504	HP:0000504	Abnormality of vision	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000504	Abnormality of vision	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000504	Abnormality of vision	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0000504	HP:0000504	Abnormality of vision	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0000504	HP:0000504	Abnormality of vision	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000504	HP:0000504	Abnormality of vision	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0000504	HP:0000504	Abnormality of vision	0	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency			80
HP:0000504	HP:0000504	Abnormality of vision	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0000504	HP:0000504	Abnormality of vision	0	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal			31
HP:0000504	HP:0000504	Abnormality of vision	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000504	HP:0000504	Abnormality of vision	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0000504	HP:0000504	Abnormality of vision	0	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E			30
HP:0000504	HP:0000504	Abnormality of vision	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000504	HP:0000504	Abnormality of vision	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040282 - Frequent		57
HP:0000504	HP:0000504	Abnormality of vision	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		47
HP:0000504	HP:0000504	Abnormality of vision	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0000504	HP:0000504	Abnormality of vision	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0000504	HP:0000504	Abnormality of vision	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:0000504	HP:0000504	Abnormality of vision	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0000504	HP:0000504	Abnormality of vision	0	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome			118
HP:0000504	HP:0000504	Abnormality of vision	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0000504	HP:0000504	Abnormality of vision	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0000504	HP:0000504	Abnormality of vision	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0000504	HP:0000504	Abnormality of vision	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0000504	HP:0000504	Abnormality of vision	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0000504	HP:0000504	Abnormality of vision	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0000504	HP:0000504	Abnormality of vision	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0000504	HP:0000504	Abnormality of vision	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0000504	HP:0000504	Abnormality of vision	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0000504	HP:0000504	Abnormality of vision	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0000504	HP:0000504	Abnormality of vision	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0000504	HP:0000504	Abnormality of vision	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0000504	HP:0000504	Abnormality of vision	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000504	Abnormality of vision	0	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000504	HP:0000504	Abnormality of vision	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease			6
HP:0000504	HP:0000504	Abnormality of vision	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		72
HP:0000504	HP:0000504	Abnormality of vision	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000504	HP:0000504	Abnormality of vision	0	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000504	HP:0000504	Abnormality of vision	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0000504	HP:0000504	Abnormality of vision	0	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0000504	HP:0000504	Abnormality of vision	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000504	HP:0000504	Abnormality of vision	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0000504	HP:0000504	Abnormality of vision	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0000504	HP:0000504	Abnormality of vision	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0000504	HP:0000504	Abnormality of vision	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0000504	HP:0000504	Abnormality of vision	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0000504	HP:0000504	Abnormality of vision	0	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0000504	HP:0000504	Abnormality of vision	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040281 - Very frequent		144
HP:0000504	HP:0000504	Abnormality of vision	0	DRAM2 CL E G H	128338	28769	ORPHA:1872	Cone rod dystrophy			9
HP:0000504	HP:0000504	Abnormality of vision	0	DRAM2 CL E G H	128338	28769	OMIM:616502	Cone-Rod dystrophy 21			9
HP:0000504	HP:0000504	Abnormality of vision	0	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7			46
HP:0000504	HP:0000504	Abnormality of vision	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000504	HP:0000504	Abnormality of vision	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0000504	HP:0000504	Abnormality of vision	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040282 - Frequent		134
HP:0000504	HP:0000504	Abnormality of vision	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0000504	HP:0000504	Abnormality of vision	0	EDN3 CL E G H	1908	3178	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		67
HP:0000504	HP:0000504	Abnormality of vision	0	EDNRA CL E G H	1909	3179	OMIM:157300	Migraine with or without aura, susceptibility to, 1			3
HP:0000504	HP:0000504	Abnormality of vision	0	EDNRB CL E G H	1910	3180	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		55
HP:0000504	HP:0000504	Abnormality of vision	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		60
HP:0000504	HP:0000504	Abnormality of vision	0	EFEMP1 CL E G H	2202	3218	OMIM:126600	Doyne honeycomb retinal dystrophy			54
HP:0000504	HP:0000504	Abnormality of vision	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen			54
HP:0000504	HP:0000504	Abnormality of vision	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma			54
HP:0000504	HP:0000504	Abnormality of vision	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0000504	HP:0000504	Abnormality of vision	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0000504	HP:0000504	Abnormality of vision	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0000504	HP:0000504	Abnormality of vision	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0000504	HP:0000504	Abnormality of vision	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0000504	HP:0000504	Abnormality of vision	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0000504	HP:0000504	Abnormality of vision	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous			3
HP:0000504	HP:0000504	Abnormality of vision	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0000504	HP:0000504	Abnormality of vision	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000504	HP:0000504	Abnormality of vision	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000504	HP:0000504	Abnormality of vision	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease			62
HP:0000504	HP:0000504	Abnormality of vision	0	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3			62
HP:0000504	HP:0000504	Abnormality of vision	0	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2			4
HP:0000504	HP:0000504	Abnormality of vision	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000504	HP:0000504	Abnormality of vision	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0000504	HP:0000504	Abnormality of vision	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm			186
HP:0000504	HP:0000504	Abnormality of vision	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0000504	HP:0000504	Abnormality of vision	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0000504	HP:0000504	Abnormality of vision	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy			170
HP:0000504	HP:0000504	Abnormality of vision	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0000504	HP:0000504	Abnormality of vision	0	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora			83
HP:0000504	HP:0000504	Abnormality of vision	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000504	HP:0000504	Abnormality of vision	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome			20
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome			106
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome			83
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome			199
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0000504	HP:0000504	Abnormality of vision	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0000504	HP:0000504	Abnormality of vision	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000504	HP:0000504	Abnormality of vision	0	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000504	HP:0000504	Abnormality of vision	0	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0000504	HP:0000504	Abnormality of vision	0	ESR1 CL E G H	2099	3467	OMIM:157300	Migraine with or without aura, susceptibility to, 1			13
HP:0000504	HP:0000504	Abnormality of vision	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000504	HP:0000504	Abnormality of vision	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000504	HP:0000504	Abnormality of vision	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C			4
HP:0000504	HP:0000504	Abnormality of vision	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000504	HP:0000504	Abnormality of vision	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0000504	HP:0000504	Abnormality of vision	0	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0000504	HP:0000504	Abnormality of vision	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0000504	HP:0000504	Abnormality of vision	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0000504	HP:0000504	Abnormality of vision	0	FAM161A CL E G H	84140	25808	OMIM:606068	RETINITIS PIGMENTOSA 28; RP28			56
HP:0000504	HP:0000504	Abnormality of vision	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0000504	HP:0000504	Abnormality of vision	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0000504	HP:0000504	Abnormality of vision	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0000504	HP:0000504	Abnormality of vision	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0000504	HP:0000504	Abnormality of vision	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0000504	HP:0000504	Abnormality of vision	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000504	HP:0000504	Abnormality of vision	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0000504	HP:0000504	Abnormality of vision	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000504	HP:0000504	Abnormality of vision	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0000504	HP:0000504	Abnormality of vision	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0000504	HP:0000504	Abnormality of vision	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0000504	HP:0000504	Abnormality of vision	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0000504	HP:0000504	Abnormality of vision	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0000504	HP:0000504	Abnormality of vision	0	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease			59
HP:0000504	HP:0000504	Abnormality of vision	0	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis			1361
HP:0000504	HP:0000504	Abnormality of vision	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0000504	HP:0000504	Abnormality of vision	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0000504	HP:0000504	Abnormality of vision	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000504	HP:0000504	Abnormality of vision	0	FBN2 CL E G H	2201	3604	OMIM:616118	MACULAR DEGENERATION, EARLY-ONSET; EOMD			655
HP:0000504	HP:0000504	Abnormality of vision	0	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000504	HP:0000504	Abnormality of vision	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0000504	HP:0000504	Abnormality of vision	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000504	HP:0000504	Abnormality of vision	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0000504	HP:0000504	Abnormality of vision	0	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy
HP:0000504	HP:0000504	Abnormality of vision	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0000504	HP:0000504	Abnormality of vision	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47			3
HP:0000504	HP:0000504	Abnormality of vision	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0000504	HP:0000504	Abnormality of vision	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0000504	HP:0000504	Abnormality of vision	0	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0000504	HP:0000504	Abnormality of vision	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0000504	HP:0000504	Abnormality of vision	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0000504	HP:0000504	Abnormality of vision	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0000504	HP:0000504	Abnormality of vision	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0000504	HP:0000504	Abnormality of vision	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0000504	HP:0000504	Abnormality of vision	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0000504	HP:0000504	Abnormality of vision	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0000504	HP:0000504	Abnormality of vision	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0000504	HP:0000504	Abnormality of vision	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0000504	HP:0000504	Abnormality of vision	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0000504	HP:0000504	Abnormality of vision	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0000504	HP:0000504	Abnormality of vision	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000504	HP:0000504	Abnormality of vision	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0000504	HP:0000504	Abnormality of vision	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional		175
HP:0000504	HP:0000504	Abnormality of vision	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0000504	HP:0000504	Abnormality of vision	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0000504	HP:0000504	Abnormality of vision	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0000504	HP:0000504	Abnormality of vision	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000504	HP:0000504	Abnormality of vision	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome			145
HP:0000504	HP:0000504	Abnormality of vision	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000504	HP:0000504	Abnormality of vision	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000504	HP:0000504	Abnormality of vision	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0000504	HP:0000504	Abnormality of vision	0	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria			111
HP:0000504	HP:0000504	Abnormality of vision	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0000504	HP:0000504	Abnormality of vision	0	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease			157
HP:0000504	HP:0000504	Abnormality of vision	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000504	HP:0000504	Abnormality of vision	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0000504	HP:0000504	Abnormality of vision	0	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease			184
HP:0000504	HP:0000504	Abnormality of vision	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000504	HP:0000504	Abnormality of vision	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0000504	HP:0000504	Abnormality of vision	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0000504	HP:0000504	Abnormality of vision	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		11
HP:0000504	HP:0000504	Abnormality of vision	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0000504	HP:0000504	Abnormality of vision	0	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0000504	HP:0000504	Abnormality of vision	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0000504	HP:0000504	Abnormality of vision	0	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia			63
HP:0000504	HP:0000504	Abnormality of vision	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0000504	HP:0000504	Abnormality of vision	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0000504	HP:0000504	Abnormality of vision	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2			23
HP:0000504	HP:0000504	Abnormality of vision	0	FOXE3 CL E G H	2301	3808	ORPHA:83461	Congenital primary aphakia	HP:0040282 - Frequent		23
HP:0000504	HP:0000504	Abnormality of vision	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0000504	HP:0000504	Abnormality of vision	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0000504	HP:0000504	Abnormality of vision	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0000504	HP:0000504	Abnormality of vision	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0000504	HP:0000504	Abnormality of vision	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0000504	HP:0000504	Abnormality of vision	0	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma			184
HP:0000504	HP:0000504	Abnormality of vision	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0000504	HP:0000504	Abnormality of vision	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0000504	HP:0000504	Abnormality of vision	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000504	HP:0000504	Abnormality of vision	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000504	HP:0000504	Abnormality of vision	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000504	HP:0000504	Abnormality of vision	0	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked			38
HP:0000504	HP:0000504	Abnormality of vision	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0000504	HP:0000504	Abnormality of vision	0	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30			26
HP:0000504	HP:0000504	Abnormality of vision	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0000504	HP:0000504	Abnormality of vision	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0000504	HP:0000504	Abnormality of vision	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1			109
HP:0000504	HP:0000504	Abnormality of vision	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0000504	HP:0000504	Abnormality of vision	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000504	HP:0000504	Abnormality of vision	0	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity			109
HP:0000504	HP:0000504	Abnormality of vision	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000504	HP:0000504	Abnormality of vision	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		5
HP:0000504	HP:0000504	Abnormality of vision	0	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0000504	HP:0000504	Abnormality of vision	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		4
HP:0000504	HP:0000504	Abnormality of vision	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000504	HP:0000504	Abnormality of vision	0	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45			3
HP:0000504	HP:0000504	Abnormality of vision	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0000504	HP:0000504	Abnormality of vision	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		44
HP:0000504	HP:0000504	Abnormality of vision	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		10
HP:0000504	HP:0000504	Abnormality of vision	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		139
HP:0000504	HP:0000504	Abnormality of vision	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0000504	HP:0000504	Abnormality of vision	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0000504	HP:0000504	Abnormality of vision	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0000504	HP:0000504	Abnormality of vision	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0000504	HP:0000504	Abnormality of vision	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0000504	HP:0000504	Abnormality of vision	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0000504	HP:0000504	Abnormality of vision	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0000504	HP:0000504	Abnormality of vision	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0000504	HP:0000504	Abnormality of vision	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0000504	HP:0000504	Abnormality of vision	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0000504	HP:0000504	Abnormality of vision	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0000504	HP:0000504	Abnormality of vision	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0000504	HP:0000504	Abnormality of vision	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0000504	HP:0000504	Abnormality of vision	0	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6			7
HP:0000504	HP:0000504	Abnormality of vision	0	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis			64
HP:0000504	HP:0000504	Abnormality of vision	0	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17			64
HP:0000504	HP:0000504	Abnormality of vision	0	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6			64
HP:0000504	HP:0000504	Abnormality of vision	0	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa			129
HP:0000504	HP:0000504	Abnormality of vision	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease			8
HP:0000504	HP:0000504	Abnormality of vision	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0000504	HP:0000504	Abnormality of vision	0	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0000504	HP:0000504	Abnormality of vision	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0000504	HP:0000504	Abnormality of vision	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0000504	HP:0000504	Abnormality of vision	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0000504	HP:0000504	Abnormality of vision	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0000504	HP:0000504	Abnormality of vision	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0000504	HP:0000504	Abnormality of vision	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0000504	HP:0000504	Abnormality of vision	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0000504	HP:0000504	Abnormality of vision	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0000504	HP:0000504	Abnormality of vision	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0000504	HP:0000504	Abnormality of vision	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0000504	HP:0000504	Abnormality of vision	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0000504	HP:0000504	Abnormality of vision	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia			17
HP:0000504	HP:0000504	Abnormality of vision	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0000504	HP:0000504	Abnormality of vision	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0000504	HP:0000504	Abnormality of vision	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome			24
HP:0000504	HP:0000504	Abnormality of vision	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0000504	HP:0000504	Abnormality of vision	0	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease			34
HP:0000504	HP:0000504	Abnormality of vision	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma			16
HP:0000504	HP:0000504	Abnormality of vision	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0000504	HP:0000504	Abnormality of vision	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma			7
HP:0000504	HP:0000504	Abnormality of vision	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0000504	HP:0000504	Abnormality of vision	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0000504	HP:0000504	Abnormality of vision	0	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0000504	HP:0000504	Abnormality of vision	0	GNAT1 CL E G H	2779	4393	OMIM:610444	Night blindness, congenital stationary, autosomal dominant 3			39
HP:0000504	HP:0000504	Abnormality of vision	0	GNAT1 CL E G H	2779	4393	OMIM:616389	Night blindness, congenital stationary, type 1G			39
HP:0000504	HP:0000504	Abnormality of vision	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0000504	HP:0000504	Abnormality of vision	0	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4			19
HP:0000504	HP:0000504	Abnormality of vision	0	GNAT2 CL E G H	2780	4394	ORPHA:1871	Progressive cone dystrophy			19
HP:0000504	HP:0000504	Abnormality of vision	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0000504	HP:0000504	Abnormality of vision	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000504	HP:0000504	Abnormality of vision	0	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0000504	HP:0000504	Abnormality of vision	0	GNB3 CL E G H	2784	4400	OMIM:617024	Night blindness, congenital stationary, type 1H			5
HP:0000504	HP:0000504	Abnormality of vision	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000504	HP:0000504	Abnormality of vision	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional		52
HP:0000504	HP:0000504	Abnormality of vision	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0000504	HP:0000504	Abnormality of vision	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0000504	HP:0000504	Abnormality of vision	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000504	HP:0000504	Abnormality of vision	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0000504	HP:0000504	Abnormality of vision	0	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I			64
HP:0000504	HP:0000504	Abnormality of vision	0	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked			64
HP:0000504	HP:0000504	Abnormality of vision	0	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism			64
HP:0000504	HP:0000504	Abnormality of vision	0	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0000504	HP:0000504	Abnormality of vision	0	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E			124
HP:0000504	HP:0000504	Abnormality of vision	0	GRHL2 CL E G H	79977	2799	OMIM:618031	Corneal dystrophy, posterior polymorphous, 4			33
HP:0000504	HP:0000504	Abnormality of vision	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0000504	HP:0000504	Abnormality of vision	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:0000504	HP:0000504	Abnormality of vision	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0000504	HP:0000504	Abnormality of vision	0	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant			108
HP:0000504	HP:0000504	Abnormality of vision	0	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0000504	HP:0000504	Abnormality of vision	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		2
HP:0000504	HP:0000504	Abnormality of vision	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000504	HP:0000504	Abnormality of vision	0	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0000504	HP:0000504	Abnormality of vision	0	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0000504	HP:0000504	Abnormality of vision	0	GRK1 CL E G H	6011	10013	OMIM:613411	OGUCHI DISEASE 2			4
HP:0000504	HP:0000504	Abnormality of vision	0	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0000504	HP:0000504	Abnormality of vision	0	GRM6 CL E G H	2916	4598	OMIM:257270	Night blindness, congenital stationary, type 1B			63
HP:0000504	HP:0000504	Abnormality of vision	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0000504	HP:0000504	Abnormality of vision	0	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11			126
HP:0000504	HP:0000504	Abnormality of vision	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0000504	HP:0000504	Abnormality of vision	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0000504	HP:0000504	Abnormality of vision	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0000504	HP:0000504	Abnormality of vision	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0000504	HP:0000504	Abnormality of vision	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0000504	HP:0000504	Abnormality of vision	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0000504	HP:0000504	Abnormality of vision	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0000504	HP:0000504	Abnormality of vision	0	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23			30
HP:0000504	HP:0000504	Abnormality of vision	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy			24
HP:0000504	HP:0000504	Abnormality of vision	0	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3			24
HP:0000504	HP:0000504	Abnormality of vision	0	GUCA1A CL E G H	2978	4678	ORPHA:1872	Cone rod dystrophy			24
HP:0000504	HP:0000504	Abnormality of vision	0	GUCA1A CL E G H	2978	4678	ORPHA:1871	Progressive cone dystrophy			24
HP:0000504	HP:0000504	Abnormality of vision	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0000504	HP:0000504	Abnormality of vision	0	GUCA1B CL E G H	2979	4679	OMIM:613827	RETINITIS PIGMENTOSA 48; RP48			36
HP:0000504	HP:0000504	Abnormality of vision	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy			124
HP:0000504	HP:0000504	Abnormality of vision	0	GUCY2D CL E G H	3000	4689	ORPHA:1872	Cone rod dystrophy			124
HP:0000504	HP:0000504	Abnormality of vision	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000504	HP:0000504	Abnormality of vision	0	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis			124
HP:0000504	HP:0000504	Abnormality of vision	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0000504	HP:0000504	Abnormality of vision	0	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I			124
HP:0000504	HP:0000504	Abnormality of vision	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0000504	HP:0000504	Abnormality of vision	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000504	HP:0000504	Abnormality of vision	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000504	HP:0000504	Abnormality of vision	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000504	HP:0000504	Abnormality of vision	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0000504	HP:0000504	Abnormality of vision	0	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000504	HP:0000504	Abnormality of vision	0	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB
HP:0000504	HP:0000504	Abnormality of vision	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0000504	HP:0000504	Abnormality of vision	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		54
HP:0000504	HP:0000504	Abnormality of vision	0	HCRT CL E G H	3060	4847	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent		1
HP:0000504	HP:0000504	Abnormality of vision	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0000504	HP:0000504	Abnormality of vision	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0000504	HP:0000504	Abnormality of vision	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0000504	HP:0000504	Abnormality of vision	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0000504	HP:0000504	Abnormality of vision	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0000504	HP:0000504	Abnormality of vision	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040281 - Very frequent		77
HP:0000504	HP:0000504	Abnormality of vision	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0000504	HP:0000504	Abnormality of vision	0	HGSNAT CL E G H	138050	26527	OMIM:616544	Retinitis pigmentosa 73			86
HP:0000504	HP:0000504	Abnormality of vision	0	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13			3
HP:0000504	HP:0000504	Abnormality of vision	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000504	HP:0000504	Abnormality of vision	0	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79			11
HP:0000504	HP:0000504	Abnormality of vision	0	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92			2
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-DQB1 CL E G H	3119	4944	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to			2
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent		2
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0000504	HP:0000504	Abnormality of vision	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0000504	HP:0000504	Abnormality of vision	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1			262
HP:0000504	HP:0000504	Abnormality of vision	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000504	HP:0000504	Abnormality of vision	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000504	HP:0000504	Abnormality of vision	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0000504	HP:0000504	Abnormality of vision	0	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000504	HP:0000504	Abnormality of vision	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0000504	HP:0000504	Abnormality of vision	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0000504	HP:0000504	Abnormality of vision	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0000504	HP:0000504	Abnormality of vision	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040282 - Frequent		113
HP:0000504	HP:0000504	Abnormality of vision	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0000504	HP:0000504	Abnormality of vision	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0000504	HP:0000504	Abnormality of vision	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0000504	HP:0000504	Abnormality of vision	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000504	HP:0000504	Abnormality of vision	0	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0000504	HP:0000504	Abnormality of vision	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		345
HP:0000504	HP:0000504	Abnormality of vision	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0000504	HP:0000504	Abnormality of vision	0	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease			39
HP:0000504	HP:0000504	Abnormality of vision	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74			16
HP:0000504	HP:0000504	Abnormality of vision	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0000504	HP:0000504	Abnormality of vision	0	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive			16
HP:0000504	HP:0000504	Abnormality of vision	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0000504	HP:0000504	Abnormality of vision	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0000504	HP:0000504	Abnormality of vision	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0000504	HP:0000504	Abnormality of vision	0	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0000504	HP:0000504	Abnormality of vision	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000504	HP:0000504	Abnormality of vision	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000504	HP:0000504	Abnormality of vision	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0000504	HP:0000504	Abnormality of vision	0	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis			148
HP:0000504	HP:0000504	Abnormality of vision	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0000504	HP:0000504	Abnormality of vision	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0000504	HP:0000504	Abnormality of vision	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000504	HP:0000504	Abnormality of vision	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0000504	HP:0000504	Abnormality of vision	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0000504	HP:0000504	Abnormality of vision	0	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71			48
HP:0000504	HP:0000504	Abnormality of vision	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0000504	HP:0000504	Abnormality of vision	0	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0000504	HP:0000504	Abnormality of vision	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0000504	HP:0000504	Abnormality of vision	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000504	HP:0000504	Abnormality of vision	0	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma			7
HP:0000504	HP:0000504	Abnormality of vision	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0000504	HP:0000504	Abnormality of vision	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0000504	HP:0000504	Abnormality of vision	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0000504	HP:0000504	Abnormality of vision	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0000504	HP:0000504	Abnormality of vision	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0000504	HP:0000504	Abnormality of vision	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0000504	HP:0000504	Abnormality of vision	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		14
HP:0000504	HP:0000504	Abnormality of vision	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		196
HP:0000504	HP:0000504	Abnormality of vision	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		4
HP:0000504	HP:0000504	Abnormality of vision	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0000504	HP:0000504	Abnormality of vision	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0000504	HP:0000504	Abnormality of vision	0	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			65
HP:0000504	HP:0000504	Abnormality of vision	0	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0000504	HP:0000504	Abnormality of vision	0	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis			52
HP:0000504	HP:0000504	Abnormality of vision	0	IMPDH1 CL E G H	3614	6052	OMIM:613837	Leber congenital amaurosis 11			52
HP:0000504	HP:0000504	Abnormality of vision	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0000504	HP:0000504	Abnormality of vision	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10			52
HP:0000504	HP:0000504	Abnormality of vision	0	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent		4
HP:0000504	HP:0000504	Abnormality of vision	0	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular			4
HP:0000504	HP:0000504	Abnormality of vision	0	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4			4
HP:0000504	HP:0000504	Abnormality of vision	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0000504	HP:0000504	Abnormality of vision	0	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent		120
HP:0000504	HP:0000504	Abnormality of vision	0	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5			120
HP:0000504	HP:0000504	Abnormality of vision	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0000504	HP:0000504	Abnormality of vision	0	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56			120
HP:0000504	HP:0000504	Abnormality of vision	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0000504	HP:0000504	Abnormality of vision	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0000504	HP:0000504	Abnormality of vision	0	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome			111
HP:0000504	HP:0000504	Abnormality of vision	0	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0000504	HP:0000504	Abnormality of vision	0	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0000504	HP:0000504	Abnormality of vision	0	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis			61
HP:0000504	HP:0000504	Abnormality of vision	0	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0000504	HP:0000504	Abnormality of vision	0	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0000504	HP:0000504	Abnormality of vision	0	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4			7
HP:0000504	HP:0000504	Abnormality of vision	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0000504	HP:0000504	Abnormality of vision	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0000504	HP:0000504	Abnormality of vision	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0000504	HP:0000504	Abnormality of vision	0	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome			8
HP:0000504	HP:0000504	Abnormality of vision	0	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities			3
HP:0000504	HP:0000504	Abnormality of vision	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome			177
HP:0000504	HP:0000504	Abnormality of vision	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia			57
HP:0000504	HP:0000504	Abnormality of vision	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0000504	HP:0000504	Abnormality of vision	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0000504	HP:0000504	Abnormality of vision	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0000504	HP:0000504	Abnormality of vision	0	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000504	HP:0000504	Abnormality of vision	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000504	HP:0000504	Abnormality of vision	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0000504	HP:0000504	Abnormality of vision	0	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0000504	HP:0000504	Abnormality of vision	0	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1			145
HP:0000504	HP:0000504	Abnormality of vision	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		13
HP:0000504	HP:0000504	Abnormality of vision	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		1
HP:0000504	HP:0000504	Abnormality of vision	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		65
HP:0000504	HP:0000504	Abnormality of vision	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22			35
HP:0000504	HP:0000504	Abnormality of vision	0	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis			42
HP:0000504	HP:0000504	Abnormality of vision	0	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16			42
HP:0000504	HP:0000504	Abnormality of vision	0	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000504	HP:0000504	Abnormality of vision	0	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B			73
HP:0000504	HP:0000504	Abnormality of vision	0	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0000504	HP:0000504	Abnormality of vision	0	KCTD7 CL E G H	154881	21957	ORPHA:263516	Progressive myoclonic epilepsy type 3	HP:0040283 - Occasional		106
HP:0000504	HP:0000504	Abnormality of vision	0	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2			8
HP:0000504	HP:0000504	Abnormality of vision	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000504	HP:0000504	Abnormality of vision	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0000504	HP:0000504	Abnormality of vision	0	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0000504	HP:0000504	Abnormality of vision	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000504	HP:0000504	Abnormality of vision	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000504	HP:0000504	Abnormality of vision	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040281 - Very frequent		46
HP:0000504	HP:0000504	Abnormality of vision	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0000504	HP:0000504	Abnormality of vision	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0000504	HP:0000504	Abnormality of vision	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0000504	HP:0000504	Abnormality of vision	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0000504	HP:0000504	Abnormality of vision	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0000504	HP:0000504	Abnormality of vision	0	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal			93
HP:0000504	HP:0000504	Abnormality of vision	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0000504	HP:0000504	Abnormality of vision	0	KIZ CL E G H	55857	15865	OMIM:615780	Retinitis pigmentosa 69			3
HP:0000504	HP:0000504	Abnormality of vision	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0000504	HP:0000504	Abnormality of vision	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0000504	HP:0000504	Abnormality of vision	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000504	HP:0000504	Abnormality of vision	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0000504	HP:0000504	Abnormality of vision	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040282 - Frequent		196
HP:0000504	HP:0000504	Abnormality of vision	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0000504	HP:0000504	Abnormality of vision	0	KRT12 CL E G H	3859	6414	OMIM:122100	Meesmann corneal dystrophy 1			22
HP:0000504	HP:0000504	Abnormality of vision	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			110
HP:0000504	HP:0000504	Abnormality of vision	0	KRT3 CL E G H	3850	6440	OMIM:618767	CORNEAL DYSTROPHY, MEESMANN, 2; MECD2			3
HP:0000504	HP:0000504	Abnormality of vision	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form			173
HP:0000504	HP:0000504	Abnormality of vision	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0000504	HP:0000504	Abnormality of vision	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0000504	HP:0000504	Abnormality of vision	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000504	HP:0000504	Abnormality of vision	0	LAMC3 CL E G H	10319	6494	OMIM:614115	Cortical malformations, occipital			114
HP:0000504	HP:0000504	Abnormality of vision	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease			211
HP:0000504	HP:0000504	Abnormality of vision	0	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease			136
HP:0000504	HP:0000504	Abnormality of vision	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000504	HP:0000504	Abnormality of vision	0	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis			70
HP:0000504	HP:0000504	Abnormality of vision	0	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5			70
HP:0000504	HP:0000504	Abnormality of vision	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000504	HP:0000504	Abnormality of vision	0	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease			26
HP:0000504	HP:0000504	Abnormality of vision	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0000504	HP:0000504	Abnormality of vision	0	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000504	HP:0000504	Abnormality of vision	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent		144
HP:0000504	HP:0000504	Abnormality of vision	0	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types			16
HP:0000504	HP:0000504	Abnormality of vision	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000504	HP:0000504	Abnormality of vision	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0000504	HP:0000504	Abnormality of vision	0	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal
HP:0000504	HP:0000504	Abnormality of vision	0	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type
HP:0000504	HP:0000504	Abnormality of vision	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0000504	HP:0000504	Abnormality of vision	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0000504	HP:0000504	Abnormality of vision	0	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis			62
HP:0000504	HP:0000504	Abnormality of vision	0	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14			62
HP:0000504	HP:0000504	Abnormality of vision	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0000504	HP:0000504	Abnormality of vision	0	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa			62
HP:0000504	HP:0000504	Abnormality of vision	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000504	HP:0000504	Abnormality of vision	0	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0000504	HP:0000504	Abnormality of vision	0	LRIT3 CL E G H	345193	24783	OMIM:615058	Night blindness, congenital stationary, type 1F			54
HP:0000504	HP:0000504	Abnormality of vision	0	LRMDA CL E G H	83938	23405	OMIM:615179	Albinism, oculocutaneous, type V			13
HP:0000504	HP:0000504	Abnormality of vision	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000504	HP:0000504	Abnormality of vision	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000504	HP:0000504	Abnormality of vision	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0000504	HP:0000504	Abnormality of vision	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1			125
HP:0000504	HP:0000504	Abnormality of vision	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0000504	HP:0000504	Abnormality of vision	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0000504	HP:0000504	Abnormality of vision	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0000504	HP:0000504	Abnormality of vision	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0000504	HP:0000504	Abnormality of vision	0	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome			125
HP:0000504	HP:0000504	Abnormality of vision	0	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity			125
HP:0000504	HP:0000504	Abnormality of vision	0	LRPAP1 CL E G H	4043	6701	OMIM:615431	Myopia 23, autosomal recessive			4
HP:0000504	HP:0000504	Abnormality of vision	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease			221
HP:0000504	HP:0000504	Abnormality of vision	0	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease			221
HP:0000504	HP:0000504	Abnormality of vision	0	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome			2
HP:0000504	HP:0000504	Abnormality of vision	0	LSS CL E G H	4047	6708	OMIM:616509	Cataract 44			2
HP:0000504	HP:0000504	Abnormality of vision	0	LTBP2 CL E G H	4053	6715	ORPHA:98976	Congenital glaucoma			123
HP:0000504	HP:0000504	Abnormality of vision	0	LTBP2 CL E G H	4053	6715	OMIM:613086	Glaucoma 3, primary congenital, D			123
HP:0000504	HP:0000504	Abnormality of vision	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0000504	HP:0000504	Abnormality of vision	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000504	Abnormality of vision	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0000504	HP:0000504	Abnormality of vision	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0000504	HP:0000504	Abnormality of vision	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000504	HP:0000504	Abnormality of vision	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0000504	HP:0000504	Abnormality of vision	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0000504	HP:0000504	Abnormality of vision	0	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			2
HP:0000504	HP:0000504	Abnormality of vision	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0000504	HP:0000504	Abnormality of vision	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0000504	HP:0000504	Abnormality of vision	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000504	HP:0000504	Abnormality of vision	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0000504	HP:0000504	Abnormality of vision	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		63
HP:0000504	HP:0000504	Abnormality of vision	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		63
HP:0000504	HP:0000504	Abnormality of vision	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0000504	HP:0000504	Abnormality of vision	0	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62			53
HP:0000504	HP:0000504	Abnormality of vision	0	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma			6
HP:0000504	HP:0000504	Abnormality of vision	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0000504	HP:0000504	Abnormality of vision	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0000504	HP:0000504	Abnormality of vision	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0000504	HP:0000504	Abnormality of vision	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000504	HP:0000504	Abnormality of vision	0	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3			1
HP:0000504	HP:0000504	Abnormality of vision	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome			140
HP:0000504	HP:0000504	Abnormality of vision	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0000504	HP:0000504	Abnormality of vision	0	MARCHF6 CL E G H	10299	30550	ORPHA:86814	Benign adult familial myoclonic epilepsy
HP:0000504	HP:0000504	Abnormality of vision	0	MARK3 CL E G H	4140	6897	OMIM:618283	Visual impairment and progressive phthisis bulbi
HP:0000504	HP:0000504	Abnormality of vision	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1			252
HP:0000504	HP:0000504	Abnormality of vision	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0000504	HP:0000504	Abnormality of vision	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0000504	HP:0000504	Abnormality of vision	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0000504	HP:0000504	Abnormality of vision	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II			124
HP:0000504	HP:0000504	Abnormality of vision	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0000504	HP:0000504	Abnormality of vision	0	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0000504	HP:0000504	Abnormality of vision	0	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV			78
HP:0000504	HP:0000504	Abnormality of vision	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0000504	HP:0000504	Abnormality of vision	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0000504	HP:0000504	Abnormality of vision	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000504	HP:0000504	Abnormality of vision	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0000504	HP:0000504	Abnormality of vision	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040283 - Occasional		462
HP:0000504	HP:0000504	Abnormality of vision	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000504	HP:0000504	Abnormality of vision	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0000504	HP:0000504	Abnormality of vision	0	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38			75
HP:0000504	HP:0000504	Abnormality of vision	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0000504	HP:0000504	Abnormality of vision	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2			17
HP:0000504	HP:0000504	Abnormality of vision	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect			17
HP:0000504	HP:0000504	Abnormality of vision	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0000504	HP:0000504	Abnormality of vision	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000504	HP:0000504	Abnormality of vision	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5			26
HP:0000504	HP:0000504	Abnormality of vision	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7			120
HP:0000504	HP:0000504	Abnormality of vision	0	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement			120
HP:0000504	HP:0000504	Abnormality of vision	0	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3
HP:0000504	HP:0000504	Abnormality of vision	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000504	HP:0000504	Abnormality of vision	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0000504	HP:0000504	Abnormality of vision	0	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome			1
HP:0000504	HP:0000504	Abnormality of vision	0	MIR204 CL E G H	406987	31582	OMIM:616722	Retinal dystrophy and iris coloboma with or without congenital cataract			1
HP:0000504	HP:0000504	Abnormality of vision	0	MITF CL E G H	4286	7105	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		91
HP:0000504	HP:0000504	Abnormality of vision	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0000504	HP:0000504	Abnormality of vision	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0000504	HP:0000504	Abnormality of vision	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0000504	HP:0000504	Abnormality of vision	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0000504	HP:0000504	Abnormality of vision	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0000504	HP:0000504	Abnormality of vision	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000504	HP:0000504	Abnormality of vision	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0000504	HP:0000504	Abnormality of vision	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0000504	HP:0000504	Abnormality of vision	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0000504	HP:0000504	Abnormality of vision	0	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies			2
HP:0000504	HP:0000504	Abnormality of vision	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000504	Abnormality of vision	0	MOG CL E G H	4340	7197	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent		1
HP:0000504	HP:0000504	Abnormality of vision	0	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0000504	HP:0000504	Abnormality of vision	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia			97
HP:0000504	HP:0000504	Abnormality of vision	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0000504	HP:0000504	Abnormality of vision	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0000504	HP:0000504	Abnormality of vision	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0000504	HP:0000504	Abnormality of vision	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0000504	HP:0000504	Abnormality of vision	0	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2			45
HP:0000504	HP:0000504	Abnormality of vision	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0000504	HP:0000504	Abnormality of vision	0	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
HP:0000504	HP:0000504	Abnormality of vision	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly			68
HP:0000504	HP:0000504	Abnormality of vision	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0000504	HP:0000504	Abnormality of vision	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0000504	HP:0000504	Abnormality of vision	0	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0000504	HP:0000504	Abnormality of vision	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0000504	HP:0000504	Abnormality of vision	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0000504	HP:0000504	Abnormality of vision	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0000504	HP:0000504	Abnormality of vision	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0000504	HP:0000504	Abnormality of vision	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0000504	HP:0000504	Abnormality of vision	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0000504	HP:0000504	Abnormality of vision	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0000504	HP:0000504	Abnormality of vision	0	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1			35
HP:0000504	HP:0000504	Abnormality of vision	0	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37			179
HP:0000504	HP:0000504	Abnormality of vision	0	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000504	HP:0000504	Abnormality of vision	0	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000504	HP:0000504	Abnormality of vision	0	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0000504	HP:0000504	Abnormality of vision	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000504	HP:0000504	Abnormality of vision	0	MYOC CL E G H	4653	7610	ORPHA:98976	Congenital glaucoma			47
HP:0000504	HP:0000504	Abnormality of vision	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma			47
HP:0000504	HP:0000504	Abnormality of vision	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type			23
HP:0000504	HP:0000504	Abnormality of vision	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000504	HP:0000504	Abnormality of vision	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0000504	HP:0000504	Abnormality of vision	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency			14
HP:0000504	HP:0000504	Abnormality of vision	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0000504	HP:0000504	Abnormality of vision	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0000504	HP:0000504	Abnormality of vision	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0000504	HP:0000504	Abnormality of vision	0	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0000504	HP:0000504	Abnormality of vision	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0000504	HP:0000504	Abnormality of vision	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0000504	HP:0000504	Abnormality of vision	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0000504	HP:0000504	Abnormality of vision	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0000504	HP:0000504	Abnormality of vision	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0000504	HP:0000504	Abnormality of vision	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000504	Abnormality of vision	0	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000504	Abnormality of vision	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0000504	HP:0000504	Abnormality of vision	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0000504	HP:0000504	Abnormality of vision	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000504	Abnormality of vision	0	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000504	Abnormality of vision	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0000504	HP:0000504	Abnormality of vision	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000504	Abnormality of vision	0	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000504	Abnormality of vision	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0000504	HP:0000504	Abnormality of vision	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000504	Abnormality of vision	0	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000504	Abnormality of vision	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000504	Abnormality of vision	0	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000504	Abnormality of vision	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0000504	HP:0000504	Abnormality of vision	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000504	Abnormality of vision	0	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000504	Abnormality of vision	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0000504	HP:0000504	Abnormality of vision	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	.		96
HP:0000504	HP:0000504	Abnormality of vision	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent
HP:0000504	HP:0000504	Abnormality of vision	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent
HP:0000504	HP:0000504	Abnormality of vision	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked			39
HP:0000504	HP:0000504	Abnormality of vision	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000504	HP:0000504	Abnormality of vision	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000504	HP:0000504	Abnormality of vision	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000504	HP:0000504	Abnormality of vision	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000504	HP:0000504	Abnormality of vision	0	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity			39
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy			65
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0000504	HP:0000504	Abnormality of vision	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0000504	HP:0000504	Abnormality of vision	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0000504	HP:0000504	Abnormality of vision	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0000504	HP:0000504	Abnormality of vision	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0000504	HP:0000504	Abnormality of vision	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0000504	HP:0000504	Abnormality of vision	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0000504	HP:0000504	Abnormality of vision	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0000504	HP:0000504	Abnormality of vision	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0000504	HP:0000504	Abnormality of vision	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000504	HP:0000504	Abnormality of vision	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000504	HP:0000504	Abnormality of vision	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0000504	HP:0000504	Abnormality of vision	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000504	HP:0000504	Abnormality of vision	0	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0000504	HP:0000504	Abnormality of vision	0	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora			77
HP:0000504	HP:0000504	Abnormality of vision	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0000504	HP:0000504	Abnormality of vision	0	NHS CL E G H	4810	7820	OMIM:302200	Cataract, congenital total, with posterior sutural opacities in heterozygotes			88
HP:0000504	HP:0000504	Abnormality of vision	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome			88
HP:0000504	HP:0000504	Abnormality of vision	0	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome			88
HP:0000504	HP:0000504	Abnormality of vision	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0000504	HP:0000504	Abnormality of vision	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0000504	HP:0000504	Abnormality of vision	0	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria			217
HP:0000504	HP:0000504	Abnormality of vision	0	NMNAT1 CL E G H	64802	17877	ORPHA:1872	Cone rod dystrophy			15
HP:0000504	HP:0000504	Abnormality of vision	0	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis			15
HP:0000504	HP:0000504	Abnormality of vision	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000504	HP:0000504	Abnormality of vision	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:0000504	HP:0000504	Abnormality of vision	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0000504	HP:0000504	Abnormality of vision	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0000504	HP:0000504	Abnormality of vision	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0000504	HP:0000504	Abnormality of vision	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0000504	HP:0000504	Abnormality of vision	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0000504	HP:0000504	Abnormality of vision	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000504	HP:0000504	Abnormality of vision	0	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0000504	HP:0000504	Abnormality of vision	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000504	HP:0000504	Abnormality of vision	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0000504	HP:0000504	Abnormality of vision	0	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0000504	HP:0000504	Abnormality of vision	0	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0000504	HP:0000504	Abnormality of vision	0	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0000504	HP:0000504	Abnormality of vision	0	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4			220
HP:0000504	HP:0000504	Abnormality of vision	0	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome			58
HP:0000504	HP:0000504	Abnormality of vision	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0000504	HP:0000504	Abnormality of vision	0	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37			58
HP:0000504	HP:0000504	Abnormality of vision	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome			37
HP:0000504	HP:0000504	Abnormality of vision	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000504	HP:0000504	Abnormality of vision	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0000504	HP:0000504	Abnormality of vision	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040282 - Frequent		102
HP:0000504	HP:0000504	Abnormality of vision	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0000504	HP:0000504	Abnormality of vision	0	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27			30
HP:0000504	HP:0000504	Abnormality of vision	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0000504	HP:0000504	Abnormality of vision	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0000504	HP:0000504	Abnormality of vision	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		8
HP:0000504	HP:0000504	Abnormality of vision	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0000504	HP:0000504	Abnormality of vision	0	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA			1
HP:0000504	HP:0000504	Abnormality of vision	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0000504	HP:0000504	Abnormality of vision	0	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0000504	HP:0000504	Abnormality of vision	0	NYX CL E G H	60506	8082	OMIM:310500	Night blindness, congenital stationary, type 1A			42
HP:0000504	HP:0000504	Abnormality of vision	0	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000504	HP:0000504	Abnormality of vision	0	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency			94
HP:0000504	HP:0000504	Abnormality of vision	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II			121
HP:0000504	HP:0000504	Abnormality of vision	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0000504	HP:0000504	Abnormality of vision	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		121
HP:0000504	HP:0000504	Abnormality of vision	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		121
HP:0000504	HP:0000504	Abnormality of vision	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0000504	HP:0000504	Abnormality of vision	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000504	HP:0000504	Abnormality of vision	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0000504	HP:0000504	Abnormality of vision	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000504	HP:0000504	Abnormality of vision	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0000504	HP:0000504	Abnormality of vision	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000504	HP:0000504	Abnormality of vision	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000504	HP:0000504	Abnormality of vision	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000504	HP:0000504	Abnormality of vision	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0000504	HP:0000504	Abnormality of vision	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000504	HP:0000504	Abnormality of vision	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000504	HP:0000504	Abnormality of vision	0	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3			163
HP:0000504	HP:0000504	Abnormality of vision	0	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III			163
HP:0000504	HP:0000504	Abnormality of vision	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0000504	HP:0000504	Abnormality of vision	0	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3			163
HP:0000504	HP:0000504	Abnormality of vision	0	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy			7
HP:0000504	HP:0000504	Abnormality of vision	0	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism			7
HP:0000504	HP:0000504	Abnormality of vision	0	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series			7
HP:0000504	HP:0000504	Abnormality of vision	0	OPN1LW CL E G H	5956	9936	ORPHA:1872	Cone rod dystrophy			7
HP:0000504	HP:0000504	Abnormality of vision	0	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy			5
HP:0000504	HP:0000504	Abnormality of vision	0	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism			5
HP:0000504	HP:0000504	Abnormality of vision	0	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series			5
HP:0000504	HP:0000504	Abnormality of vision	0	OPN1MW CL E G H	2652	4206	ORPHA:1872	Cone rod dystrophy			5
HP:0000504	HP:0000504	Abnormality of vision	0	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA			3
HP:0000504	HP:0000504	Abnormality of vision	0	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia			3
HP:0000504	HP:0000504	Abnormality of vision	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0000504	HP:0000504	Abnormality of vision	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0000504	HP:0000504	Abnormality of vision	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0000504	HP:0000504	Abnormality of vision	0	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1			4
HP:0000504	HP:0000504	Abnormality of vision	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0000504	HP:0000504	Abnormality of vision	0	P2RY11 CL E G H	5032	8540	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent		2
HP:0000504	HP:0000504	Abnormality of vision	0	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration			5
HP:0000504	HP:0000504	Abnormality of vision	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0000504	HP:0000504	Abnormality of vision	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000504	HP:0000504	Abnormality of vision	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0000504	HP:0000504	Abnormality of vision	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0000504	HP:0000504	Abnormality of vision	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration			55
HP:0000504	HP:0000504	Abnormality of vision	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0000504	HP:0000504	Abnormality of vision	0	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0000504	HP:0000504	Abnormality of vision	0	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease			23
HP:0000504	HP:0000504	Abnormality of vision	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0000504	HP:0000504	Abnormality of vision	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		14
HP:0000504	HP:0000504	Abnormality of vision	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000504	HP:0000504	Abnormality of vision	0	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome			39
HP:0000504	HP:0000504	Abnormality of vision	0	PAX3 CL E G H	5077	8617	ORPHA:894	Waardenburg syndrome type 1	HP:0040281 - Very frequent		59
HP:0000504	HP:0000504	Abnormality of vision	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes			194
HP:0000504	HP:0000504	Abnormality of vision	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis			194
HP:0000504	HP:0000504	Abnormality of vision	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0000504	HP:0000504	Abnormality of vision	0	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included			194
HP:0000504	HP:0000504	Abnormality of vision	0	PAX6 CL E G H	5080	8620	ORPHA:2253	Foveal hypoplasia-presenile cataract syndrome	HP:0040281 - Very frequent		194
HP:0000504	HP:0000504	Abnormality of vision	0	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia			194
HP:0000504	HP:0000504	Abnormality of vision	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia			194
HP:0000504	HP:0000504	Abnormality of vision	0	PAX6 CL E G H	5080	8620	ORPHA:35737	Morning glory disc anomaly			194
HP:0000504	HP:0000504	Abnormality of vision	0	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL			194
HP:0000504	HP:0000504	Abnormality of vision	0	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome			194
HP:0000504	HP:0000504	Abnormality of vision	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0000504	HP:0000504	Abnormality of vision	0	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54
HP:0000504	HP:0000504	Abnormality of vision	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications
HP:0000504	HP:0000504	Abnormality of vision	0	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000504	HP:0000504	Abnormality of vision	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2			1
HP:0000504	HP:0000504	Abnormality of vision	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0000504	HP:0000504	Abnormality of vision	0	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis			11
HP:0000504	HP:0000504	Abnormality of vision	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0000504	HP:0000504	Abnormality of vision	0	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome			11
HP:0000504	HP:0000504	Abnormality of vision	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0000504	HP:0000504	Abnormality of vision	0	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to			1
HP:0000504	HP:0000504	Abnormality of vision	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome			113
HP:0000504	HP:0000504	Abnormality of vision	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0000504	HP:0000504	Abnormality of vision	0	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0000504	HP:0000504	Abnormality of vision	0	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0000504	HP:0000504	Abnormality of vision	0	PDE6B CL E G H	5158	8786	OMIM:163500	Night blindness, congenital stationary, autosomal dominant 2			126
HP:0000504	HP:0000504	Abnormality of vision	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0000504	HP:0000504	Abnormality of vision	0	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40			126
HP:0000504	HP:0000504	Abnormality of vision	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0000504	HP:0000504	Abnormality of vision	0	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4			80
HP:0000504	HP:0000504	Abnormality of vision	0	PDE6C CL E G H	5146	8787	ORPHA:1871	Progressive cone dystrophy			80
HP:0000504	HP:0000504	Abnormality of vision	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0000504	HP:0000504	Abnormality of vision	0	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa			18
HP:0000504	HP:0000504	Abnormality of vision	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0000504	HP:0000504	Abnormality of vision	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0000504	HP:0000504	Abnormality of vision	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0000504	HP:0000504	Abnormality of vision	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000504	HP:0000504	Abnormality of vision	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0000504	HP:0000504	Abnormality of vision	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000504	Abnormality of vision	0	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3			54
HP:0000504	HP:0000504	Abnormality of vision	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0000504	HP:0000504	Abnormality of vision	0	PDXK CL E G H	8566	8819	OMIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy
HP:0000504	HP:0000504	Abnormality of vision	0	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000504	HP:0000504	Abnormality of vision	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000504	HP:0000504	Abnormality of vision	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0000504	HP:0000504	Abnormality of vision	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0000504	HP:0000504	Abnormality of vision	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000504	HP:0000504	Abnormality of vision	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0000504	HP:0000504	Abnormality of vision	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0000504	HP:0000504	Abnormality of vision	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0000504	HP:0000504	Abnormality of vision	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0000504	HP:0000504	Abnormality of vision	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0000504	HP:0000504	Abnormality of vision	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0000504	HP:0000504	Abnormality of vision	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0000504	HP:0000504	Abnormality of vision	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0000504	HP:0000504	Abnormality of vision	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0000504	HP:0000504	Abnormality of vision	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0000504	HP:0000504	Abnormality of vision	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0000504	HP:0000504	Abnormality of vision	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0000504	HP:0000504	Abnormality of vision	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0000504	HP:0000504	Abnormality of vision	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0000504	HP:0000504	Abnormality of vision	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0000504	HP:0000504	Abnormality of vision	0	PEX13 CL E G H	5194	8855	OMIM:614885	Peroxisome biogenesis disorder 11B			66
HP:0000504	HP:0000504	Abnormality of vision	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0000504	HP:0000504	Abnormality of vision	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0000504	HP:0000504	Abnormality of vision	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0000504	HP:0000504	Abnormality of vision	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0000504	HP:0000504	Abnormality of vision	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0000504	HP:0000504	Abnormality of vision	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0000504	HP:0000504	Abnormality of vision	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B			59
HP:0000504	HP:0000504	Abnormality of vision	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0000504	HP:0000504	Abnormality of vision	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0000504	HP:0000504	Abnormality of vision	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0000504	HP:0000504	Abnormality of vision	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0000504	HP:0000504	Abnormality of vision	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0000504	HP:0000504	Abnormality of vision	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0000504	HP:0000504	Abnormality of vision	0	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B			82
HP:0000504	HP:0000504	Abnormality of vision	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0000504	HP:0000504	Abnormality of vision	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0000504	HP:0000504	Abnormality of vision	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0000504	HP:0000504	Abnormality of vision	0	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B			106
HP:0000504	HP:0000504	Abnormality of vision	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0000504	HP:0000504	Abnormality of vision	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0000504	HP:0000504	Abnormality of vision	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0000504	HP:0000504	Abnormality of vision	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0000504	HP:0000504	Abnormality of vision	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0000504	HP:0000504	Abnormality of vision	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0000504	HP:0000504	Abnormality of vision	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0000504	HP:0000504	Abnormality of vision	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0000504	HP:0000504	Abnormality of vision	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0000504	HP:0000504	Abnormality of vision	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0000504	HP:0000504	Abnormality of vision	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0000504	HP:0000504	Abnormality of vision	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0000504	HP:0000504	Abnormality of vision	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease			72
HP:0000504	HP:0000504	Abnormality of vision	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040281 - Very frequent		72
HP:0000504	HP:0000504	Abnormality of vision	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000504	HP:0000504	Abnormality of vision	0	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0000504	HP:0000504	Abnormality of vision	0	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0000504	HP:0000504	Abnormality of vision	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome			29
HP:0000504	HP:0000504	Abnormality of vision	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0000504	HP:0000504	Abnormality of vision	0	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000504	HP:0000504	Abnormality of vision	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040281 - Very frequent		45
HP:0000504	HP:0000504	Abnormality of vision	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease			45
HP:0000504	HP:0000504	Abnormality of vision	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0000504	HP:0000504	Abnormality of vision	0	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome			77
HP:0000504	HP:0000504	Abnormality of vision	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0000504	HP:0000504	Abnormality of vision	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0000504	HP:0000504	Abnormality of vision	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000504	HP:0000504	Abnormality of vision	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000504	HP:0000504	Abnormality of vision	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000504	HP:0000504	Abnormality of vision	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0000504	HP:0000504	Abnormality of vision	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000504	HP:0000504	Abnormality of vision	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000504	HP:0000504	Abnormality of vision	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000504	HP:0000504	Abnormality of vision	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000504	HP:0000504	Abnormality of vision	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000504	HP:0000504	Abnormality of vision	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0000504	HP:0000504	Abnormality of vision	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly			162
HP:0000504	HP:0000504	Abnormality of vision	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0000504	HP:0000504	Abnormality of vision	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000504	HP:0000504	Abnormality of vision	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0000504	HP:0000504	Abnormality of vision	0	PIKFYVE CL E G H	200576	23785	OMIM:121850	Corneal fleck dystrophy			112
HP:0000504	HP:0000504	Abnormality of vision	0	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease			55
HP:0000504	HP:0000504	Abnormality of vision	0	PITPNM3 CL E G H	83394	21043	ORPHA:1872	Cone rod dystrophy			135
HP:0000504	HP:0000504	Abnormality of vision	0	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5			135
HP:0000504	HP:0000504	Abnormality of vision	0	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea			51
HP:0000504	HP:0000504	Abnormality of vision	0	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types			6
HP:0000504	HP:0000504	Abnormality of vision	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0000504	HP:0000504	Abnormality of vision	0	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0000504	HP:0000504	Abnormality of vision	0	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis			5
HP:0000504	HP:0000504	Abnormality of vision	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0000504	HP:0000504	Abnormality of vision	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0000504	HP:0000504	Abnormality of vision	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040281 - Very frequent		11
HP:0000504	HP:0000504	Abnormality of vision	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included			11
HP:0000504	HP:0000504	Abnormality of vision	0	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			11
HP:0000504	HP:0000504	Abnormality of vision	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2			11
HP:0000504	HP:0000504	Abnormality of vision	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0000504	HP:0000504	Abnormality of vision	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0000504	HP:0000504	Abnormality of vision	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0000504	HP:0000504	Abnormality of vision	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0000504	HP:0000504	Abnormality of vision	0	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0000504	HP:0000504	Abnormality of vision	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25			60
HP:0000504	HP:0000504	Abnormality of vision	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0000504	HP:0000504	Abnormality of vision	0	POC1B CL E G H	282809	30836	ORPHA:1872	Cone rod dystrophy			3
HP:0000504	HP:0000504	Abnormality of vision	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20			3
HP:0000504	HP:0000504	Abnormality of vision	0	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease			6
HP:0000504	HP:0000504	Abnormality of vision	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000504	HP:0000504	Abnormality of vision	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000504	HP:0000504	Abnormality of vision	0	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0000504	HP:0000504	Abnormality of vision	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040282 - Frequent		464
HP:0000504	HP:0000504	Abnormality of vision	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0000504	HP:0000504	Abnormality of vision	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0000504	HP:0000504	Abnormality of vision	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0000504	HP:0000504	Abnormality of vision	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0000504	HP:0000504	Abnormality of vision	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000504	HP:0000504	Abnormality of vision	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000504	HP:0000504	Abnormality of vision	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0000504	HP:0000504	Abnormality of vision	0	POLG2 CL E G H	11232	9180	OMIM:619425	MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B			45
HP:0000504	HP:0000504	Abnormality of vision	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0000504	HP:0000504	Abnormality of vision	0	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant			155
HP:0000504	HP:0000504	Abnormality of vision	0	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type			155
HP:0000504	HP:0000504	Abnormality of vision	0	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome	HP:0040283 - Occasional		8
HP:0000504	HP:0000504	Abnormality of vision	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0000504	HP:0000504	Abnormality of vision	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0000504	HP:0000504	Abnormality of vision	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000504	HP:0000504	Abnormality of vision	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000504	HP:0000504	Abnormality of vision	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0000504	HP:0000504	Abnormality of vision	0	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease			180
HP:0000504	HP:0000504	Abnormality of vision	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0000504	HP:0000504	Abnormality of vision	0	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0000504	HP:0000504	Abnormality of vision	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0000504	HP:0000504	Abnormality of vision	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0000504	HP:0000504	Abnormality of vision	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0000504	HP:0000504	Abnormality of vision	0	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease			213
HP:0000504	HP:0000504	Abnormality of vision	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000504	HP:0000504	Abnormality of vision	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0000504	HP:0000504	Abnormality of vision	0	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease			221
HP:0000504	HP:0000504	Abnormality of vision	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000504	HP:0000504	Abnormality of vision	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0000504	HP:0000504	Abnormality of vision	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000504	HP:0000504	Abnormality of vision	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000504	HP:0000504	Abnormality of vision	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0000504	HP:0000504	Abnormality of vision	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0000504	HP:0000504	Abnormality of vision	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0000504	HP:0000504	Abnormality of vision	0	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0000504	HP:0000504	Abnormality of vision	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		2
HP:0000504	HP:0000504	Abnormality of vision	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0000504	HP:0000504	Abnormality of vision	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000504	HP:0000504	Abnormality of vision	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0000504	HP:0000504	Abnormality of vision	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		148
HP:0000504	HP:0000504	Abnormality of vision	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0000504	HP:0000504	Abnormality of vision	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0000504	HP:0000504	Abnormality of vision	0	PRIMPOL CL E G H	201973	26575	OMIM:615420	Myopia 22, autosomal dominant			1
HP:0000504	HP:0000504	Abnormality of vision	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000504	Abnormality of vision	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities			42
HP:0000504	HP:0000504	Abnormality of vision	0	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease			138
HP:0000504	HP:0000504	Abnormality of vision	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease			69
HP:0000504	HP:0000504	Abnormality of vision	0	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia			69
HP:0000504	HP:0000504	Abnormality of vision	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0000504	HP:0000504	Abnormality of vision	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0000504	HP:0000504	Abnormality of vision	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0000504	HP:0000504	Abnormality of vision	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0000504	HP:0000504	Abnormality of vision	0	PROM1 CL E G H	8842	9454	ORPHA:1872	Cone rod dystrophy			110
HP:0000504	HP:0000504	Abnormality of vision	0	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000504	HP:0000504	Abnormality of vision	0	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2			110
HP:0000504	HP:0000504	Abnormality of vision	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0000504	HP:0000504	Abnormality of vision	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000504	HP:0000504	Abnormality of vision	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease			110
HP:0000504	HP:0000504	Abnormality of vision	0	PROM1 CL E G H	8842	9454	OMIM:603786	Stargardt disease 4			110
HP:0000504	HP:0000504	Abnormality of vision	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000504	HP:0000504	Abnormality of vision	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive			75
HP:0000504	HP:0000504	Abnormality of vision	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0000504	HP:0000504	Abnormality of vision	0	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18			28
HP:0000504	HP:0000504	Abnormality of vision	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0000504	HP:0000504	Abnormality of vision	0	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0000504	HP:0000504	Abnormality of vision	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0000504	HP:0000504	Abnormality of vision	0	PRPF4 CL E G H	9128	17349	OMIM:615922	Retinitis pigmentosa 70			2
HP:0000504	HP:0000504	Abnormality of vision	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0000504	HP:0000504	Abnormality of vision	0	PRPF6 CL E G H	24148	15860	OMIM:613983	Retinitis pigmentosa 60			51
HP:0000504	HP:0000504	Abnormality of vision	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0000504	HP:0000504	Abnormality of vision	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13			94
HP:0000504	HP:0000504	Abnormality of vision	0	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent		159
HP:0000504	HP:0000504	Abnormality of vision	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy			159
HP:0000504	HP:0000504	Abnormality of vision	0	PRPH2 CL E G H	5961	9942	OMIM:613105	Choroidal dystrophy, central areolar 2			159
HP:0000504	HP:0000504	Abnormality of vision	0	PRPH2 CL E G H	5961	9942	ORPHA:1872	Cone rod dystrophy			159
HP:0000504	HP:0000504	Abnormality of vision	0	PRPH2 CL E G H	5961	9942	OMIM:136880	Fundus albipunctatus			159
HP:0000504	HP:0000504	Abnormality of vision	0	PRPH2 CL E G H	5961	9942	OMIM:169150	Macular dystrophy, patterned, 1			159
HP:0000504	HP:0000504	Abnormality of vision	0	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3			159
HP:0000504	HP:0000504	Abnormality of vision	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0000504	HP:0000504	Abnormality of vision	0	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7			159
HP:0000504	HP:0000504	Abnormality of vision	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000504	HP:0000504	Abnormality of vision	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease			159
HP:0000504	HP:0000504	Abnormality of vision	0	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0000504	HP:0000504	Abnormality of vision	0	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0000504	HP:0000504	Abnormality of vision	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0000504	HP:0000504	Abnormality of vision	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000504	HP:0000504	Abnormality of vision	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000504	HP:0000504	Abnormality of vision	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0000504	HP:0000504	Abnormality of vision	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0000504	HP:0000504	Abnormality of vision	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0000504	HP:0000504	Abnormality of vision	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0000504	HP:0000504	Abnormality of vision	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0000504	HP:0000504	Abnormality of vision	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0000504	HP:0000504	Abnormality of vision	0	PSEN1 CL E G H	5663	9508	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		241
HP:0000504	HP:0000504	Abnormality of vision	0	PSEN2 CL E G H	5664	9509	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		59
HP:0000504	HP:0000504	Abnormality of vision	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000504	HP:0000504	Abnormality of vision	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0000504	HP:0000504	Abnormality of vision	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0000504	HP:0000504	Abnormality of vision	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0000504	HP:0000504	Abnormality of vision	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0000504	HP:0000504	Abnormality of vision	0	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0000504	HP:0000504	Abnormality of vision	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0000504	HP:0000504	Abnormality of vision	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0000504	HP:0000504	Abnormality of vision	0	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			3
HP:0000504	HP:0000504	Abnormality of vision	0	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease			3
HP:0000504	HP:0000504	Abnormality of vision	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000504	HP:0000504	Abnormality of vision	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000504	HP:0000504	Abnormality of vision	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0000504	HP:0000504	Abnormality of vision	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome			1
HP:0000504	HP:0000504	Abnormality of vision	0	PXDN CL E G H	7837	14966	OMIM:269400	Corneal opacification with other ocular anomalies			22
HP:0000504	HP:0000504	Abnormality of vision	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional		53
HP:0000504	HP:0000504	Abnormality of vision	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000504	HP:0000504	Abnormality of vision	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0000504	HP:0000504	Abnormality of vision	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0000504	HP:0000504	Abnormality of vision	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0000504	HP:0000504	Abnormality of vision	0	RAB28 CL E G H	9364	9768	ORPHA:1872	Cone rod dystrophy			6
HP:0000504	HP:0000504	Abnormality of vision	0	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18			6
HP:0000504	HP:0000504	Abnormality of vision	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0000504	HP:0000504	Abnormality of vision	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0000504	HP:0000504	Abnormality of vision	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0000504	HP:0000504	Abnormality of vision	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0000504	HP:0000504	Abnormality of vision	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0000504	HP:0000504	Abnormality of vision	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0000504	HP:0000504	Abnormality of vision	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0000504	HP:0000504	Abnormality of vision	0	RAX2 CL E G H	84839	18286	OMIM:620102				52
HP:0000504	HP:0000504	Abnormality of vision	0	RAX2 CL E G H	84839	18286	ORPHA:1872	Cone rod dystrophy			52
HP:0000504	HP:0000504	Abnormality of vision	0	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11			52
HP:0000504	HP:0000504	Abnormality of vision	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0000504	HP:0000504	Abnormality of vision	0	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa			108
HP:0000504	HP:0000504	Abnormality of vision	0	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66			108
HP:0000504	HP:0000504	Abnormality of vision	0	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome			8
HP:0000504	HP:0000504	Abnormality of vision	0	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA			8
HP:0000504	HP:0000504	Abnormality of vision	0	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis			95
HP:0000504	HP:0000504	Abnormality of vision	0	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12			95
HP:0000504	HP:0000504	Abnormality of vision	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0000504	HP:0000504	Abnormality of vision	0	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis			45
HP:0000504	HP:0000504	Abnormality of vision	0	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13			45
HP:0000504	HP:0000504	Abnormality of vision	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0000504	HP:0000504	Abnormality of vision	0	RDH5 CL E G H	5959	9940	OMIM:136880	Fundus albipunctatus			32
HP:0000504	HP:0000504	Abnormality of vision	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000504	HP:0000504	Abnormality of vision	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0000504	HP:0000504	Abnormality of vision	0	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77			5
HP:0000504	HP:0000504	Abnormality of vision	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		16
HP:0000504	HP:0000504	Abnormality of vision	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000504	HP:0000504	Abnormality of vision	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome			3
HP:0000504	HP:0000504	Abnormality of vision	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0000504	HP:0000504	Abnormality of vision	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0000504	HP:0000504	Abnormality of vision	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000504	HP:0000504	Abnormality of vision	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0000504	HP:0000504	Abnormality of vision	0	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0000504	HP:0000504	Abnormality of vision	0	RGS9 CL E G H	8787	10004	ORPHA:75374	Bradyopsia			9
HP:0000504	HP:0000504	Abnormality of vision	0	RGS9 CL E G H	8787	10004	OMIM:608415	PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS			9
HP:0000504	HP:0000504	Abnormality of vision	0	RGS9BP CL E G H	388531	30304	ORPHA:75374	Bradyopsia			6
HP:0000504	HP:0000504	Abnormality of vision	0	RGS9BP CL E G H	388531	30304	OMIM:608415	PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS			6
HP:0000504	HP:0000504	Abnormality of vision	0	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0000504	HP:0000504	Abnormality of vision	0	RHO CL E G H	6010	10012	OMIM:136880	Fundus albipunctatus			107
HP:0000504	HP:0000504	Abnormality of vision	0	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1			107
HP:0000504	HP:0000504	Abnormality of vision	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0000504	HP:0000504	Abnormality of vision	0	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4			107
HP:0000504	HP:0000504	Abnormality of vision	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000504	HP:0000504	Abnormality of vision	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000504	HP:0000504	Abnormality of vision	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000504	HP:0000504	Abnormality of vision	0	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000504	HP:0000504	Abnormality of vision	0	RIMS1 CL E G H	22999	17282	ORPHA:1872	Cone rod dystrophy			102
HP:0000504	HP:0000504	Abnormality of vision	0	RIMS1 CL E G H	22999	17282	OMIM:603649	CONE-ROD DYSTROPHY 7; CORD7			102
HP:0000504	HP:0000504	Abnormality of vision	0	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0000504	HP:0000504	Abnormality of vision	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0000504	HP:0000504	Abnormality of vision	0	RLBP1 CL E G H	6017	10024	OMIM:607475	Bothnia retinal dystrophy			47
HP:0000504	HP:0000504	Abnormality of vision	0	RLBP1 CL E G H	6017	10024	OMIM:136880	Fundus albipunctatus			47
HP:0000504	HP:0000504	Abnormality of vision	0	RLBP1 CL E G H	6017	10024	OMIM:607476	NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD			47
HP:0000504	HP:0000504	Abnormality of vision	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0000504	HP:0000504	Abnormality of vision	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000504	HP:0000504	Abnormality of vision	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0000504	HP:0000504	Abnormality of vision	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0000504	HP:0000504	Abnormality of vision	0	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000504	HP:0000504	Abnormality of vision	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0000504	HP:0000504	Abnormality of vision	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0000504	HP:0000504	Abnormality of vision	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome			15
HP:0000504	HP:0000504	Abnormality of vision	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0000504	HP:0000504	Abnormality of vision	0	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa			38
HP:0000504	HP:0000504	Abnormality of vision	0	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7			38
HP:0000504	HP:0000504	Abnormality of vision	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000504	HP:0000504	Abnormality of vision	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0000504	HP:0000504	Abnormality of vision	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0000504	HP:0000504	Abnormality of vision	0	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0000504	HP:0000504	Abnormality of vision	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0000504	HP:0000504	Abnormality of vision	0	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0000504	HP:0000504	Abnormality of vision	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0000504	HP:0000504	Abnormality of vision	0	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000504	HP:0000504	Abnormality of vision	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0000504	HP:0000504	Abnormality of vision	0	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0000504	HP:0000504	Abnormality of vision	0	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis			129
HP:0000504	HP:0000504	Abnormality of vision	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0000504	HP:0000504	Abnormality of vision	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0000504	HP:0000504	Abnormality of vision	0	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20			129
HP:0000504	HP:0000504	Abnormality of vision	0	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87			129
HP:0000504	HP:0000504	Abnormality of vision	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000504	HP:0000504	Abnormality of vision	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0000504	HP:0000504	Abnormality of vision	0	RPGR CL E G H	6103	10295	ORPHA:1872	Cone rod dystrophy			200
HP:0000504	HP:0000504	Abnormality of vision	0	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1			200
HP:0000504	HP:0000504	Abnormality of vision	0	RPGR CL E G H	6103	10295	OMIM:300834	MACULAR DEGENERATION, X-LINKED ATROPHIC			200
HP:0000504	HP:0000504	Abnormality of vision	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0000504	HP:0000504	Abnormality of vision	0	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000504	HP:0000504	Abnormality of vision	0	RPGRIP1 CL E G H	57096	13436	ORPHA:1872	Cone rod dystrophy			109
HP:0000504	HP:0000504	Abnormality of vision	0	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0000504	HP:0000504	Abnormality of vision	0	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis			109
HP:0000504	HP:0000504	Abnormality of vision	0	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0000504	HP:0000504	Abnormality of vision	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0000504	HP:0000504	Abnormality of vision	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0000504	HP:0000504	Abnormality of vision	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0000504	HP:0000504	Abnormality of vision	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0000504	HP:0000504	Abnormality of vision	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000504	HP:0000504	Abnormality of vision	0	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000504	HP:0000504	Abnormality of vision	0	RS1 CL E G H	6247	10457	ORPHA:792	X-linked retinoschisis	HP:0040281 - Very frequent		148
HP:0000504	HP:0000504	Abnormality of vision	0	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000504	HP:0000504	Abnormality of vision	0	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0000504	HP:0000504	Abnormality of vision	0	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0000504	HP:0000504	Abnormality of vision	0	SAG CL E G H	6295	10521	OMIM:258100	Oguchi disease 1			32
HP:0000504	HP:0000504	Abnormality of vision	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0000504	HP:0000504	Abnormality of vision	0	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0000504	HP:0000504	Abnormality of vision	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0000504	HP:0000504	Abnormality of vision	0	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000504	HP:0000504	Abnormality of vision	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0000504	HP:0000504	Abnormality of vision	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000504	HP:0000504	Abnormality of vision	0	SAMD12 CL E G H	401474	31750	ORPHA:86814	Benign adult familial myoclonic epilepsy			2
HP:0000504	HP:0000504	Abnormality of vision	0	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0000504	HP:0000504	Abnormality of vision	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease			8
HP:0000504	HP:0000504	Abnormality of vision	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000504	HP:0000504	Abnormality of vision	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000504	HP:0000504	Abnormality of vision	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent		34
HP:0000504	HP:0000504	Abnormality of vision	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0000504	HP:0000504	Abnormality of vision	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0000504	HP:0000504	Abnormality of vision	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0000504	HP:0000504	Abnormality of vision	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000504	HP:0000504	Abnormality of vision	0	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3			1053
HP:0000504	HP:0000504	Abnormality of vision	0	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0000504	HP:0000504	Abnormality of vision	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		70
HP:0000504	HP:0000504	Abnormality of vision	0	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0000504	HP:0000504	Abnormality of vision	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0000504	HP:0000504	Abnormality of vision	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0000504	HP:0000504	Abnormality of vision	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		357
HP:0000504	HP:0000504	Abnormality of vision	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary			318
HP:0000504	HP:0000504	Abnormality of vision	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0000504	HP:0000504	Abnormality of vision	0	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0000504	HP:0000504	Abnormality of vision	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0000504	HP:0000504	Abnormality of vision	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0000504	HP:0000504	Abnormality of vision	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000504	HP:0000504	Abnormality of vision	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0000504	HP:0000504	Abnormality of vision	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0000504	HP:0000504	Abnormality of vision	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0000504	HP:0000504	Abnormality of vision	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0000504	HP:0000504	Abnormality of vision	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0000504	HP:0000504	Abnormality of vision	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000504	HP:0000504	Abnormality of vision	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0000504	HP:0000504	Abnormality of vision	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		16
HP:0000504	HP:0000504	Abnormality of vision	0	SEMA4A CL E G H	64218	10729	ORPHA:1872	Cone rod dystrophy			48
HP:0000504	HP:0000504	Abnormality of vision	0	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10			48
HP:0000504	HP:0000504	Abnormality of vision	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0000504	HP:0000504	Abnormality of vision	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0000504	HP:0000504	Abnormality of vision	0	SEMA4A CL E G H	64218	10729	OMIM:610282	Retinitis pigmentosa 35			48
HP:0000504	HP:0000504	Abnormality of vision	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0000504	HP:0000504	Abnormality of vision	0	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies			28
HP:0000504	HP:0000504	Abnormality of vision	0	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000504	HP:0000504	Abnormality of vision	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0000504	HP:0000504	Abnormality of vision	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000504	HP:0000504	Abnormality of vision	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000504	HP:0000504	Abnormality of vision	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma			19
HP:0000504	HP:0000504	Abnormality of vision	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000504	HP:0000504	Abnormality of vision	0	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18			17
HP:0000504	HP:0000504	Abnormality of vision	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia			4
HP:0000504	HP:0000504	Abnormality of vision	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0000504	HP:0000504	Abnormality of vision	0	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism			177
HP:0000504	HP:0000504	Abnormality of vision	0	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000504	HP:0000504	Abnormality of vision	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000504	HP:0000504	Abnormality of vision	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0000504	HP:0000504	Abnormality of vision	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0000504	HP:0000504	Abnormality of vision	0	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5			67
HP:0000504	HP:0000504	Abnormality of vision	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0000504	HP:0000504	Abnormality of vision	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0000504	HP:0000504	Abnormality of vision	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000504	HP:0000504	Abnormality of vision	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000504	HP:0000504	Abnormality of vision	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000504	HP:0000504	Abnormality of vision	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000504	HP:0000504	Abnormality of vision	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		150
HP:0000504	HP:0000504	Abnormality of vision	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0000504	HP:0000504	Abnormality of vision	0	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0000504	HP:0000504	Abnormality of vision	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		73
HP:0000504	HP:0000504	Abnormality of vision	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000504	HP:0000504	Abnormality of vision	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0000504	HP:0000504	Abnormality of vision	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0000504	HP:0000504	Abnormality of vision	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0000504	HP:0000504	Abnormality of vision	0	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6			63
HP:0000504	HP:0000504	Abnormality of vision	0	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6			63
HP:0000504	HP:0000504	Abnormality of vision	0	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0000504	HP:0000504	Abnormality of vision	0	SLC24A1 CL E G H	9187	10975	OMIM:613830	Night blindness, congenital stationary, type 1D			66
HP:0000504	HP:0000504	Abnormality of vision	0	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI			12
HP:0000504	HP:0000504	Abnormality of vision	0	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6			12
HP:0000504	HP:0000504	Abnormality of vision	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria			28
HP:0000504	HP:0000504	Abnormality of vision	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000504	HP:0000504	Abnormality of vision	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040281 - Very frequent
HP:0000504	HP:0000504	Abnormality of vision	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0000504	HP:0000504	Abnormality of vision	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000504	HP:0000504	Abnormality of vision	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000504	HP:0000504	Abnormality of vision	0	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9			255
HP:0000504	HP:0000504	Abnormality of vision	0	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity			255
HP:0000504	HP:0000504	Abnormality of vision	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0000504	HP:0000504	Abnormality of vision	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0000504	HP:0000504	Abnormality of vision	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000504	HP:0000504	Abnormality of vision	0	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2			13
HP:0000504	HP:0000504	Abnormality of vision	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0000504	HP:0000504	Abnormality of vision	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0000504	HP:0000504	Abnormality of vision	0	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0000504	HP:0000504	Abnormality of vision	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4			42
HP:0000504	HP:0000504	Abnormality of vision	0	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II			66
HP:0000504	HP:0000504	Abnormality of vision	0	SLC4A11 CL E G H	83959	16438	OMIM:613268	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4			66
HP:0000504	HP:0000504	Abnormality of vision	0	SLC4A11 CL E G H	83959	16438	ORPHA:1490	Corneal dystrophy-perceptive deafness syndrome			66
HP:0000504	HP:0000504	Abnormality of vision	0	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness			66
HP:0000504	HP:0000504	Abnormality of vision	0	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0000504	HP:0000504	Abnormality of vision	0	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0000504	HP:0000504	Abnormality of vision	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000504	HP:0000504	Abnormality of vision	0	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040282 - Frequent		12
HP:0000504	HP:0000504	Abnormality of vision	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000504	HP:0000504	Abnormality of vision	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0000504	HP:0000504	Abnormality of vision	0	SLC7A14 CL E G H	57709	29326	OMIM:615725	Retinitis pigmentosa 68			4
HP:0000504	HP:0000504	Abnormality of vision	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0000504	HP:0000504	Abnormality of vision	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0000504	HP:0000504	Abnormality of vision	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0000504	HP:0000504	Abnormality of vision	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0000504	HP:0000504	Abnormality of vision	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0000504	HP:0000504	Abnormality of vision	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0000504	HP:0000504	Abnormality of vision	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3			87
HP:0000504	HP:0000504	Abnormality of vision	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000504	HP:0000504	Abnormality of vision	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0000504	HP:0000504	Abnormality of vision	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0000504	HP:0000504	Abnormality of vision	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000504	HP:0000504	Abnormality of vision	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0000504	HP:0000504	Abnormality of vision	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome			174
HP:0000504	HP:0000504	Abnormality of vision	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0000504	HP:0000504	Abnormality of vision	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0000504	HP:0000504	Abnormality of vision	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000504	HP:0000504	Abnormality of vision	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000504	HP:0000504	Abnormality of vision	0	SNAP29 CL E G H	9342	11133	ORPHA:66631	CEDNIK syndrome	HP:0040283 - Occasional		94
HP:0000504	HP:0000504	Abnormality of vision	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease			65
HP:0000504	HP:0000504	Abnormality of vision	0	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease			65
HP:0000504	HP:0000504	Abnormality of vision	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0000504	HP:0000504	Abnormality of vision	0	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33			83
HP:0000504	HP:0000504	Abnormality of vision	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040282 - Frequent		37
HP:0000504	HP:0000504	Abnormality of vision	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040282 - Frequent		37
HP:0000504	HP:0000504	Abnormality of vision	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0000504	HP:0000504	Abnormality of vision	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0000504	HP:0000504	Abnormality of vision	0	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0000504	HP:0000504	Abnormality of vision	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000504	HP:0000504	Abnormality of vision	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000504	HP:0000504	Abnormality of vision	0	SORL1 CL E G H	6653	11185	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		3
HP:0000504	HP:0000504	Abnormality of vision	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0000504	HP:0000504	Abnormality of vision	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0000504	HP:0000504	Abnormality of vision	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0000504	HP:0000504	Abnormality of vision	0	SOX10 CL E G H	6663	11190	ORPHA:897	Waardenburg-Shah syndrome	HP:0040281 - Very frequent		61
HP:0000504	HP:0000504	Abnormality of vision	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0000504	HP:0000504	Abnormality of vision	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0000504	HP:0000504	Abnormality of vision	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0000504	HP:0000504	Abnormality of vision	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0000504	HP:0000504	Abnormality of vision	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome			19
HP:0000504	HP:0000504	Abnormality of vision	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0000504	HP:0000504	Abnormality of vision	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000504	HP:0000504	Abnormality of vision	0	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis			48
HP:0000504	HP:0000504	Abnormality of vision	0	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3			48
HP:0000504	HP:0000504	Abnormality of vision	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0000504	HP:0000504	Abnormality of vision	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000504	HP:0000504	Abnormality of vision	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent		4
HP:0000504	HP:0000504	Abnormality of vision	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11			287
HP:0000504	HP:0000504	Abnormality of vision	0	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive			287
HP:0000504	HP:0000504	Abnormality of vision	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0000504	HP:0000504	Abnormality of vision	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000504	HP:0000504	Abnormality of vision	0	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0000504	HP:0000504	Abnormality of vision	0	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000504	HP:0000504	Abnormality of vision	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0000504	HP:0000504	Abnormality of vision	0	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG			80
HP:0000504	HP:0000504	Abnormality of vision	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0000504	HP:0000504	Abnormality of vision	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0000504	HP:0000504	Abnormality of vision	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0000504	HP:0000504	Abnormality of vision	0	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0000504	HP:0000504	Abnormality of vision	0	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0000504	HP:0000504	Abnormality of vision	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000504	HP:0000504	Abnormality of vision	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000504	HP:0000504	Abnormality of vision	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0000504	HP:0000504	Abnormality of vision	0	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			2
HP:0000504	HP:0000504	Abnormality of vision	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0000504	HP:0000504	Abnormality of vision	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0000504	HP:0000504	Abnormality of vision	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0000504	HP:0000504	Abnormality of vision	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0000504	HP:0000504	Abnormality of vision	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0000504	HP:0000504	Abnormality of vision	0	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1			31
HP:0000504	HP:0000504	Abnormality of vision	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		2
HP:0000504	HP:0000504	Abnormality of vision	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0000504	HP:0000504	Abnormality of vision	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria			66
HP:0000504	HP:0000504	Abnormality of vision	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000504	HP:0000504	Abnormality of vision	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0000504	HP:0000504	Abnormality of vision	0	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0000504	HP:0000504	Abnormality of vision	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0000504	HP:0000504	Abnormality of vision	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		108
HP:0000504	HP:0000504	Abnormality of vision	0	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53			9
HP:0000504	HP:0000504	Abnormality of vision	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		9
HP:0000504	HP:0000504	Abnormality of vision	0	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease			9
HP:0000504	HP:0000504	Abnormality of vision	0	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome			1
HP:0000504	HP:0000504	Abnormality of vision	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0000504	HP:0000504	Abnormality of vision	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000504	HP:0000504	Abnormality of vision	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		123
HP:0000504	HP:0000504	Abnormality of vision	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0000504	HP:0000504	Abnormality of vision	0	TACSTD2 CL E G H	4070	11530	OMIM:204870	Corneal dystrophy, gelatinous drop-like			42
HP:0000504	HP:0000504	Abnormality of vision	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0000504	HP:0000504	Abnormality of vision	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000504	HP:0000504	Abnormality of vision	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0000504	HP:0000504	Abnormality of vision	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000504	HP:0000504	Abnormality of vision	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2			43
HP:0000504	HP:0000504	Abnormality of vision	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0000504	HP:0000504	Abnormality of vision	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0000504	HP:0000504	Abnormality of vision	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000504	HP:0000504	Abnormality of vision	0	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16			271
HP:0000504	HP:0000504	Abnormality of vision	0	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia			271
HP:0000504	HP:0000504	Abnormality of vision	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0000504	HP:0000504	Abnormality of vision	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000504	HP:0000504	Abnormality of vision	0	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0000504	HP:0000504	Abnormality of vision	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0000504	HP:0000504	Abnormality of vision	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0000504	HP:0000504	Abnormality of vision	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0000504	HP:0000504	Abnormality of vision	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000504	HP:0000504	Abnormality of vision	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0000504	HP:0000504	Abnormality of vision	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000504	HP:0000504	Abnormality of vision	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0000504	HP:0000504	Abnormality of vision	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0000504	HP:0000504	Abnormality of vision	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000504	HP:0000504	Abnormality of vision	0	TEK CL E G H	7010	11724	ORPHA:98976	Congenital glaucoma			78
HP:0000504	HP:0000504	Abnormality of vision	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000504	HP:0000504	Abnormality of vision	0	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0000504	HP:0000504	Abnormality of vision	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9			12
HP:0000504	HP:0000504	Abnormality of vision	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000504	HP:0000504	Abnormality of vision	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia			3
HP:0000504	HP:0000504	Abnormality of vision	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000504	HP:0000504	Abnormality of vision	0	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive			18
HP:0000504	HP:0000504	Abnormality of vision	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0000504	HP:0000504	Abnormality of vision	0	TGFBI CL E G H	7045	11771	OMIM:602082	Corneal dystrophy of bowman layer, type II			58
HP:0000504	HP:0000504	Abnormality of vision	0	TGFBI CL E G H	7045	11771	OMIM:607541	Corneal dystrophy, Avellino type			58
HP:0000504	HP:0000504	Abnormality of vision	0	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane			58
HP:0000504	HP:0000504	Abnormality of vision	0	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I			58
HP:0000504	HP:0000504	Abnormality of vision	0	TGFBI CL E G H	7045	11771	OMIM:608471	Corneal dystrophy, lattice type IIIA			58
HP:0000504	HP:0000504	Abnormality of vision	0	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type			58
HP:0000504	HP:0000504	Abnormality of vision	0	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I			58
HP:0000504	HP:0000504	Abnormality of vision	0	TGFBI CL E G H	7045	11771	ORPHA:98963	Granular corneal dystrophy type II			58
HP:0000504	HP:0000504	Abnormality of vision	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0000504	HP:0000504	Abnormality of vision	0	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy			58
HP:0000504	HP:0000504	Abnormality of vision	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0000504	HP:0000504	Abnormality of vision	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm			1
HP:0000504	HP:0000504	Abnormality of vision	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000504	HP:0000504	Abnormality of vision	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000504	HP:0000504	Abnormality of vision	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000504	HP:0000504	Abnormality of vision	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000504	HP:0000504	Abnormality of vision	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000504	HP:0000504	Abnormality of vision	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0000504	HP:0000504	Abnormality of vision	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm			2
HP:0000504	HP:0000504	Abnormality of vision	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000504	HP:0000504	Abnormality of vision	0	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0000504	HP:0000504	Abnormality of vision	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0000504	HP:0000504	Abnormality of vision	0	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy			95
HP:0000504	HP:0000504	Abnormality of vision	0	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy			95
HP:0000504	HP:0000504	Abnormality of vision	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0000504	HP:0000504	Abnormality of vision	0	TLCD3B CL E G H	83723	25295	ORPHA:1872	Cone rod dystrophy
HP:0000504	HP:0000504	Abnormality of vision	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0000504	HP:0000504	Abnormality of vision	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0000504	HP:0000504	Abnormality of vision	0	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000504	HP:0000504	Abnormality of vision	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0000504	HP:0000504	Abnormality of vision	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000504	HP:0000504	Abnormality of vision	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0000504	HP:0000504	Abnormality of vision	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000504	HP:0000504	Abnormality of vision	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000504	HP:0000504	Abnormality of vision	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000504	HP:0000504	Abnormality of vision	0	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21			9
HP:0000504	HP:0000504	Abnormality of vision	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000504	HP:0000504	Abnormality of vision	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0000504	HP:0000504	Abnormality of vision	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0000504	HP:0000504	Abnormality of vision	0	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4			3
HP:0000504	HP:0000504	Abnormality of vision	0	TNF CL E G H	7124	11892	OMIM:157300	Migraine with or without aura, susceptibility to, 1			7
HP:0000504	HP:0000504	Abnormality of vision	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0000504	HP:0000504	Abnormality of vision	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0000504	HP:0000504	Abnormality of vision	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0000504	HP:0000504	Abnormality of vision	0	TNFSF4 CL E G H	7292	11934	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent
HP:0000504	HP:0000504	Abnormality of vision	0	TOMM40 CL E G H	10452	18001	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional
HP:0000504	HP:0000504	Abnormality of vision	0	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0000504	HP:0000504	Abnormality of vision	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0000504	HP:0000504	Abnormality of vision	0	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31			61
HP:0000504	HP:0000504	Abnormality of vision	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0000504	HP:0000504	Abnormality of vision	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia			911
HP:0000504	HP:0000504	Abnormality of vision	0	TP53 CL E G H	7157	11998	ORPHA:2807	Papilloma of choroid plexus			911
HP:0000504	HP:0000504	Abnormality of vision	0	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4
HP:0000504	HP:0000504	Abnormality of vision	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3			140
HP:0000504	HP:0000504	Abnormality of vision	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome			140
HP:0000504	HP:0000504	Abnormality of vision	0	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2			203
HP:0000504	HP:0000504	Abnormality of vision	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia			203
HP:0000504	HP:0000504	Abnormality of vision	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7			203
HP:0000504	HP:0000504	Abnormality of vision	0	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0000504	HP:0000504	Abnormality of vision	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		4
HP:0000504	HP:0000504	Abnormality of vision	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0000504	HP:0000504	Abnormality of vision	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000504	HP:0000504	Abnormality of vision	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000504	HP:0000504	Abnormality of vision	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome			27
HP:0000504	HP:0000504	Abnormality of vision	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0000504	HP:0000504	Abnormality of vision	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity			2
HP:0000504	HP:0000504	Abnormality of vision	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0000504	HP:0000504	Abnormality of vision	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0000504	HP:0000504	Abnormality of vision	0	TREM2 CL E G H	54209	17761	ORPHA:1020	Early-onset autosomal dominant Alzheimer disease	HP:0040283 - Occasional		31
HP:0000504	HP:0000504	Abnormality of vision	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0000504	HP:0000504	Abnormality of vision	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0000504	HP:0000504	Abnormality of vision	0	TRIM44 CL E G H	54765	19016	OMIM:617142	Aniridia 3			1
HP:0000504	HP:0000504	Abnormality of vision	0	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia			1
HP:0000504	HP:0000504	Abnormality of vision	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0000504	HP:0000504	Abnormality of vision	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040282 - Frequent		2
HP:0000504	HP:0000504	Abnormality of vision	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000504	HP:0000504	Abnormality of vision	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0000504	HP:0000504	Abnormality of vision	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0000504	HP:0000504	Abnormality of vision	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000504	HP:0000504	Abnormality of vision	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0000504	HP:0000504	Abnormality of vision	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0000504	HP:0000504	Abnormality of vision	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0000504	HP:0000504	Abnormality of vision	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0000504	HP:0000504	Abnormality of vision	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0000504	HP:0000504	Abnormality of vision	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000504	HP:0000504	Abnormality of vision	0	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0000504	HP:0000504	Abnormality of vision	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0000504	HP:0000504	Abnormality of vision	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000504	Abnormality of vision	0	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0000504	HP:0000504	Abnormality of vision	0	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000504	HP:0000504	Abnormality of vision	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0000504	HP:0000504	Abnormality of vision	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0000504	HP:0000504	Abnormality of vision	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0000504	HP:0000504	Abnormality of vision	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B			84
HP:0000504	HP:0000504	Abnormality of vision	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0000504	HP:0000504	Abnormality of vision	0	TSEN34 CL E G H	79042	15506	OMIM:612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C			57
HP:0000504	HP:0000504	Abnormality of vision	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0000504	HP:0000504	Abnormality of vision	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A			102
HP:0000504	HP:0000504	Abnormality of vision	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0000504	HP:0000504	Abnormality of vision	0	TSPAN12 CL E G H	23554	21641	OMIM:613310	Exudative vitreoretinopathy 5			39
HP:0000504	HP:0000504	Abnormality of vision	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000504	HP:0000504	Abnormality of vision	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0000504	HP:0000504	Abnormality of vision	0	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51			41
HP:0000504	HP:0000504	Abnormality of vision	0	TTLL5 CL E G H	23093	19963	ORPHA:1872	Cone rod dystrophy			9
HP:0000504	HP:0000504	Abnormality of vision	0	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0000504	HP:0000504	Abnormality of vision	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency			62
HP:0000504	HP:0000504	Abnormality of vision	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0000504	HP:0000504	Abnormality of vision	0	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis			107
HP:0000504	HP:0000504	Abnormality of vision	0	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity			1
HP:0000504	HP:0000504	Abnormality of vision	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0000504	HP:0000504	Abnormality of vision	0	TUBA3D CL E G H	113457	24071	OMIM:617928	Keratoconus 9
HP:0000504	HP:0000504	Abnormality of vision	0	TUBB2B CL E G H	347733	30829	ORPHA:1766	Dysequilibrium syndrome	HP:0040283 - Occasional		39
HP:0000504	HP:0000504	Abnormality of vision	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation			39
HP:0000504	HP:0000504	Abnormality of vision	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000504	HP:0000504	Abnormality of vision	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000504	HP:0000504	Abnormality of vision	0	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6			66
HP:0000504	HP:0000504	Abnormality of vision	0	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0000504	HP:0000504	Abnormality of vision	0	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000504	HP:0000504	Abnormality of vision	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000504	HP:0000504	Abnormality of vision	0	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			14
HP:0000504	HP:0000504	Abnormality of vision	0	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3			14
HP:0000504	HP:0000504	Abnormality of vision	0	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome			61
HP:0000504	HP:0000504	Abnormality of vision	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1			61
HP:0000504	HP:0000504	Abnormality of vision	0	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis			66
HP:0000504	HP:0000504	Abnormality of vision	0	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15			66
HP:0000504	HP:0000504	Abnormality of vision	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0000504	HP:0000504	Abnormality of vision	0	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000504	HP:0000504	Abnormality of vision	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000504	HP:0000504	Abnormality of vision	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome			7
HP:0000504	HP:0000504	Abnormality of vision	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0000504	HP:0000504	Abnormality of vision	0	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome	HP:0040283 - Occasional		19
HP:0000504	HP:0000504	Abnormality of vision	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0000504	HP:0000504	Abnormality of vision	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA			146
HP:0000504	HP:0000504	Abnormality of vision	0	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB			146
HP:0000504	HP:0000504	Abnormality of vision	0	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A			146
HP:0000504	HP:0000504	Abnormality of vision	0	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B			146
HP:0000504	HP:0000504	Abnormality of vision	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		13
HP:0000504	HP:0000504	Abnormality of vision	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0000504	HP:0000504	Abnormality of vision	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0000504	HP:0000504	Abnormality of vision	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000504	Abnormality of vision	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0000504	HP:0000504	Abnormality of vision	0	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease			21
HP:0000504	HP:0000504	Abnormality of vision	0	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0000504	HP:0000504	Abnormality of vision	0	UNC119 CL E G H	9094	12565	ORPHA:1872	Cone rod dystrophy			30
HP:0000504	HP:0000504	Abnormality of vision	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0000504	HP:0000504	Abnormality of vision	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0000504	HP:0000504	Abnormality of vision	0	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000504	HP:0000504	Abnormality of vision	0	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0000504	HP:0000504	Abnormality of vision	0	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000504	HP:0000504	Abnormality of vision	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0000504	HP:0000504	Abnormality of vision	0	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39			777
HP:0000504	HP:0000504	Abnormality of vision	0	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000504	HP:0000504	Abnormality of vision	0	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0000504	HP:0000504	Abnormality of vision	0	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0000504	HP:0000504	Abnormality of vision	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0000504	HP:0000504	Abnormality of vision	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0000504	HP:0000504	Abnormality of vision	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000504	HP:0000504	Abnormality of vision	0	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0000504	HP:0000504	Abnormality of vision	0	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy			180
HP:0000504	HP:0000504	Abnormality of vision	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0000504	HP:0000504	Abnormality of vision	0	VLDLR CL E G H	7436	12698	ORPHA:1766	Dysequilibrium syndrome	HP:0040283 - Occasional		111
HP:0000504	HP:0000504	Abnormality of vision	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0000504	HP:0000504	Abnormality of vision	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0000504	HP:0000504	Abnormality of vision	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0000504	HP:0000504	Abnormality of vision	0	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease			8
HP:0000504	HP:0000504	Abnormality of vision	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease			37
HP:0000504	HP:0000504	Abnormality of vision	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000504	HP:0000504	Abnormality of vision	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0000504	HP:0000504	Abnormality of vision	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000504	HP:0000504	Abnormality of vision	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000504	HP:0000504	Abnormality of vision	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000504	HP:0000504	Abnormality of vision	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0000504	HP:0000504	Abnormality of vision	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000504	HP:0000504	Abnormality of vision	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040282 - Frequent		20
HP:0000504	HP:0000504	Abnormality of vision	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:0000504	HP:0000504	Abnormality of vision	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000504	HP:0000504	Abnormality of vision	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000504	HP:0000504	Abnormality of vision	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0000504	HP:0000504	Abnormality of vision	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0000504	HP:0000504	Abnormality of vision	0	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0000504	HP:0000504	Abnormality of vision	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0000504	HP:0000504	Abnormality of vision	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0000504	HP:0000504	Abnormality of vision	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0000504	HP:0000504	Abnormality of vision	0	WDR45 CL E G H	11152	28912	OMIM:615179	Albinism, oculocutaneous, type V			51
HP:0000504	HP:0000504	Abnormality of vision	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures			1
HP:0000504	HP:0000504	Abnormality of vision	0	WDR81 CL E G H	124997	26600	ORPHA:1766	Dysequilibrium syndrome	HP:0040283 - Occasional		27
HP:0000504	HP:0000504	Abnormality of vision	0	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000504	HP:0000504	Abnormality of vision	0	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000504	HP:0000504	Abnormality of vision	0	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID			155
HP:0000504	HP:0000504	Abnormality of vision	0	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0000504	HP:0000504	Abnormality of vision	0	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0000504	HP:0000504	Abnormality of vision	0	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome			177
HP:0000504	HP:0000504	Abnormality of vision	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare		149
HP:0000504	HP:0000504	Abnormality of vision	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0000504	HP:0000504	Abnormality of vision	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0000504	HP:0000504	Abnormality of vision	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0000504	HP:0000504	Abnormality of vision	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C			86
HP:0000504	HP:0000504	Abnormality of vision	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0000504	HP:0000504	Abnormality of vision	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0000504	HP:0000504	Abnormality of vision	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0000504	HP:0000504	Abnormality of vision	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0000504	HP:0000504	Abnormality of vision	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000504	HP:0000504	Abnormality of vision	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000504	HP:0000504	Abnormality of vision	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability			2
HP:0000504	HP:0000504	Abnormality of vision	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000504	HP:0000504	Abnormality of vision	0	YEATS2 CL E G H	55689	25489	ORPHA:86814	Benign adult familial myoclonic epilepsy			1
HP:0000504	HP:0000504	Abnormality of vision	0	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0000504	HP:0000504	Abnormality of vision	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0000504	HP:0000504	Abnormality of vision	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040284 - Very rare
HP:0000504	HP:0000504	Abnormality of vision	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040283 - Occasional		7
HP:0000504	HP:0000504	Abnormality of vision	0	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6			8
HP:0000504	HP:0000504	Abnormality of vision	0	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0000504	HP:0000504	Abnormality of vision	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0000504	HP:0000504	Abnormality of vision	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0000504	HP:0000504	Abnormality of vision	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000504	HP:0000504	Abnormality of vision	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive			189
HP:0000504	HP:0000504	Abnormality of vision	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0000504	HP:0000504	Abnormality of vision	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0000504	HP:0000504	Abnormality of vision	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0000504	HP:0000504	Abnormality of vision	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0000504	HP:0000504	Abnormality of vision	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000504	HP:0000504	Abnormality of vision	0	ZNF365 CL E G H	22891	18194	ORPHA:2073	Narcolepsy type 1	HP:0040282 - Frequent		3
HP:0000504	HP:0000504	Abnormality of vision	0	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6			14
HP:0000504	HP:0000504	Abnormality of vision	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0000504	HP:0000504	Abnormality of vision	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0000504	HP:0000504	Abnormality of vision	0	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72			14
HP:0000504	HP:0000504	Abnormality of vision	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000504	HP:0000504	Abnormality of vision	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0000504	HP:0000504	Abnormality of vision	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0000504	HP:0000504	Abnormality of vision	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0000504	HP:0000504	Abnormality of vision	0	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0000504	HP:0000504	Abnormality of vision	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0000504	HP:0000504	Abnormality of vision	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0000504	HP:0032036	Reduced contrast sensitivity	1	CL E G H
HP:0000504	HP:0000505	Visual impairment	1	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040282 - Frequent		57
HP:0000504	HP:0000505	Visual impairment	1	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0000504	HP:0000622	Blurred vision	1	ABCA1 CL E G H	19	29	ORPHA:425	Apolipoprotein A-I deficiency	HP:0040282 - Frequent		191
HP:0000504	HP:0000505	Visual impairment	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.		191
HP:0000504	HP:0000505	Visual impairment	1	ABCA4 CL E G H	24	34	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		826
HP:0000504	HP:0000551	Color vision defect	1	ABCA4 CL E G H	24	34	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		826
HP:0000504	HP:0000613	Photophobia	1	ABCA4 CL E G H	24	34	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		826
HP:0000504	HP:0000662	Nyctalopia	1	ABCA4 CL E G H	24	34	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		826
HP:0000504	HP:0000505	Visual impairment	1	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000504	HP:0000551	Color vision defect	1	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000504	HP:0000505	Visual impairment	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0000504	HP:0000613	Photophobia	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0000504	HP:0000662	Nyctalopia	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0000504	HP:0000505	Visual impairment	1	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19			826
HP:0000504	HP:0000662	Nyctalopia	1	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19			826
HP:0000504	HP:0000505	Visual impairment	1	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease			826
HP:0000504	HP:0000551	Color vision defect	1	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		826
HP:0000504	HP:0000662	Nyctalopia	1	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		826
HP:0000504	HP:0000505	Visual impairment	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		415
HP:0000504	HP:0012508	Metamorphopsia	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		415
HP:0000504	HP:0000505	Visual impairment	1	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.		415
HP:0000504	HP:0000505	Visual impairment	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0000504	HP:0000505	Visual impairment	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0000504	HP:0000505	Visual impairment	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy			135
HP:0000504	HP:0000505	Visual impairment	1	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9	.		60
HP:0000504	HP:0000551	Color vision defect	1	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9			60
HP:0000504	HP:0000505	Visual impairment	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0000504	HP:0000505	Visual impairment	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0000504	HP:0000505	Visual impairment	1	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome			22
HP:0000504	HP:0100576	Amaurosis fugax	1	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040282 - Frequent		22
HP:0000504	HP:0000505	Visual impairment	1	ADAM9 CL E G H	8754	216	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		41
HP:0000504	HP:0000551	Color vision defect	1	ADAM9 CL E G H	8754	216	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		41
HP:0000504	HP:0000613	Photophobia	1	ADAM9 CL E G H	8754	216	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		41
HP:0000504	HP:0000662	Nyctalopia	1	ADAM9 CL E G H	8754	216	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		41
HP:0000504	HP:0000505	Visual impairment	1	ADAM9 CL E G H	8754	216	OMIM:612775	Cone-Rod dystrophy 9	.	HP:0011463 - Childhood onset	41
HP:0000504	HP:0000505	Visual impairment	1	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0000504	HP:0000505	Visual impairment	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0000504	HP:0000505	Visual impairment	1	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		84
HP:0000504	HP:0000505	Visual impairment	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0000504	HP:0000505	Visual impairment	1	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000504	HP:0000662	Nyctalopia	1	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		530
HP:0000504	HP:0000505	Visual impairment	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000504	HP:0000505	Visual impairment	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	.		47
HP:0000504	HP:0011514	Abnormality of binocular vision	1	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000504	HP:0100576	Amaurosis fugax	1	ADRA2B CL E G H	151	282	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional		3
HP:0000504	HP:0000505	Visual impairment	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000504	HP:0000505	Visual impairment	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:0000504	HP:0000505	Visual impairment	1	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12			86
HP:0000504	HP:0000551	Color vision defect	1	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12			86
HP:0000504	HP:0000613	Photophobia	1	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12			86
HP:0000504	HP:0000505	Visual impairment	1	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000504	HP:0000662	Nyctalopia	1	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000504	HP:0000505	Visual impairment	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000504	HP:0000613	Photophobia	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000504	HP:0000662	Nyctalopia	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0000504	HP:0000505	Visual impairment	1	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75			2
HP:0000504	HP:0000662	Nyctalopia	1	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75	.		2
HP:0000504	HP:0000505	Visual impairment	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000504	HP:0011514	Abnormality of binocular vision	1	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			127
HP:0000504	HP:0011514	Abnormality of binocular vision	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0000504	HP:0000505	Visual impairment	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000504	HP:0000505	Visual impairment	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome			36
HP:0000504	HP:0000505	Visual impairment	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.		175
HP:0000504	HP:0000505	Visual impairment	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0000504	HP:0000505	Visual impairment	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0000504	HP:0000613	Photophobia	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0000504	HP:0000662	Nyctalopia	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0000504	HP:0000505	Visual impairment	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000504	HP:0000613	Photophobia	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000504	HP:0000662	Nyctalopia	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0000504	HP:0000505	Visual impairment	1	AHR CL E G H	196	348	OMIM:618345	RETINITIS PIGMENTOSA 85; RP85			2
HP:0000504	HP:0000662	Nyctalopia	1	AHR CL E G H	196	348	OMIM:618345	RETINITIS PIGMENTOSA 85; RP85			2
HP:0000504	HP:0000613	Photophobia	1	AHSG CL E G H	197	349	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent		5
HP:0000504	HP:0000505	Visual impairment	1	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent		60
HP:0000504	HP:0000505	Visual impairment	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0000504	HP:0000505	Visual impairment	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000504	HP:0011514	Abnormality of binocular vision	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000504	HP:0000505	Visual impairment	1	AIPL1 CL E G H	23746	359	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		114
HP:0000504	HP:0000551	Color vision defect	1	AIPL1 CL E G H	23746	359	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		114
HP:0000504	HP:0000613	Photophobia	1	AIPL1 CL E G H	23746	359	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		114
HP:0000504	HP:0000662	Nyctalopia	1	AIPL1 CL E G H	23746	359	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		114
HP:0000504	HP:0000505	Visual impairment	1	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis			114
HP:0000504	HP:0000505	Visual impairment	1	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0000504	HP:0000662	Nyctalopia	1	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.		114
HP:0000504	HP:0000505	Visual impairment	1	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa			114
HP:0000504	HP:0000662	Nyctalopia	1	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa	.		114
HP:0000504	HP:0000505	Visual impairment	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000504	HP:0000505	Visual impairment	1	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040281 - Very frequent		92
HP:0000504	HP:0000613	Photophobia	1	AIRE CL E G H	326	360	ORPHA:3453	Autoimmune polyendocrinopathy type 1	HP:0040281 - Very frequent		92
HP:0000504	HP:0011514	Abnormality of binocular vision	1	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			1
HP:0000504	HP:0000505	Visual impairment	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000504	HP:0000505	Visual impairment	1	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly			19
HP:0000504	HP:0000613	Photophobia	1	ALDH3A2 CL E G H	224	403	ORPHA:816	Sjögren-Larsson syndrome	HP:0040282 - Frequent		87
HP:0000504	HP:0000505	Visual impairment	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0000504	HP:0000551	Color vision defect	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0000504	HP:0000613	Photophobia	1	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome	.		87
HP:0000504	HP:0000505	Visual impairment	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii	.		46
HP:0000504	HP:0000505	Visual impairment	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000504	HP:0000505	Visual impairment	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000504	HP:0000613	Photophobia	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0000504	HP:0000505	Visual impairment	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000504	HP:0000613	Photophobia	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000504	HP:0000505	Visual impairment	1	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0000504	HP:0000505	Visual impairment	1	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency	.		44
HP:0000504	HP:0000505	Visual impairment	1	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0000504	HP:0000505	Visual impairment	1	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9			21
HP:0000504	HP:0000505	Visual impairment	1	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm
HP:0000504	HP:0000505	Visual impairment	1	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional		164
HP:0000504	HP:0000505	Visual impairment	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0000504	HP:0000505	Visual impairment	1	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0000504	HP:0011514	Abnormality of binocular vision	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0000504	HP:0000505	Visual impairment	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		65
HP:0000504	HP:0000551	Color vision defect	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		65
HP:0000504	HP:0000505	Visual impairment	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040282 - Frequent		8
HP:0000504	HP:0000613	Photophobia	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0000504	HP:0000613	Photophobia	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0000504	HP:0000505	Visual impairment	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000504	HP:0000505	Visual impairment	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000504	HP:0000613	Photophobia	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000504	HP:0000505	Visual impairment	1	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness	HP:0040281 - Very frequent		1
HP:0000504	HP:0000613	Photophobia	1	AP3D1 CL E G H	8943	568	ORPHA:1000	Ocular albinism with late-onset sensorineural deafness	HP:0040281 - Very frequent		1
HP:0000504	HP:0000505	Visual impairment	1	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040283 - Occasional		1
HP:0000504	HP:0000613	Photophobia	1	AP3D1 CL E G H	8943	568	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent		1
HP:0000504	HP:0000505	Visual impairment	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0000504	HP:0000505	Visual impairment	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0000504	HP:0000505	Visual impairment	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0000504	HP:0000505	Visual impairment	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0000504	HP:0000505	Visual impairment	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040283 - Occasional		3179
HP:0000504	HP:0000622	Blurred vision	1	APOA1 CL E G H	335	600	ORPHA:425	Apolipoprotein A-I deficiency	HP:0040282 - Frequent		40
HP:0000504	HP:0000505	Visual impairment	1	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1			39
HP:0000504	HP:0000505	Visual impairment	1	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8			3
HP:0000504	HP:0000505	Visual impairment	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0000504	HP:0000613	Photophobia	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0000504	HP:0000662	Nyctalopia	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0000504	HP:0000505	Visual impairment	1	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78			6
HP:0000504	HP:0000662	Nyctalopia	1	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78	.		6
HP:0000504	HP:0030786	Photopsia	1	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78	.		6
HP:0000504	HP:0000505	Visual impairment	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000504	HP:0000505	Visual impairment	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0000504	HP:0000505	Visual impairment	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2	.		88
HP:0000504	HP:0000505	Visual impairment	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0000504	HP:0000505	Visual impairment	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0000504	HP:0000505	Visual impairment	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0000504	HP:0000505	Visual impairment	1	ARL2 CL E G H	402	693	OMIM:619082	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0000504	HP:0000505	Visual impairment	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000504	HP:0000613	Photophobia	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000504	HP:0000662	Nyctalopia	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0000504	HP:0000505	Visual impairment	1	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus			3
HP:0000504	HP:0000505	Visual impairment	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000504	HP:0000662	Nyctalopia	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000504	HP:0000505	Visual impairment	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000504	HP:0000613	Photophobia	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000504	HP:0000662	Nyctalopia	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0000504	HP:0000505	Visual impairment	1	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0000504	HP:0000662	Nyctalopia	1	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0000504	HP:0100832	Vitreous floaters	1	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0000504	HP:0000505	Visual impairment	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000504	HP:0000662	Nyctalopia	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000504	HP:0000505	Visual impairment	1	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0000504	HP:0000662	Nyctalopia	1	ARL6 CL E G H	84100	13210	OMIM:600151	Bardet-Biedl syndrome 3			29
HP:0000504	HP:0000505	Visual impairment	1	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa			29
HP:0000504	HP:0000505	Visual impairment	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0000504	HP:0000613	Photophobia	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0000504	HP:0000662	Nyctalopia	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0000504	HP:0000662	Nyctalopia	1	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa	.		29
HP:0000504	HP:0000505	Visual impairment	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0000504	HP:0000505	Visual impairment	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent
HP:0000504	HP:0000505	Visual impairment	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0000504	HP:0000505	Visual impairment	1	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000504	HP:0000505	Visual impairment	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0000504	HP:0000505	Visual impairment	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0000504	HP:0000505	Visual impairment	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0000504	HP:0000505	Visual impairment	1	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000504	HP:0000662	Nyctalopia	1	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000504	HP:0000505	Visual impairment	1	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000504	HP:0000662	Nyctalopia	1	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000504	HP:0100832	Vitreous floaters	1	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0000504	HP:0000505	Visual impairment	1	ARX CL E G H	170302	18060	OMIM:300004	Corpus callosum, agenesis of, with abnormal genitalia	.		166
HP:0000504	HP:0000505	Visual impairment	1	ASB10 CL E G H	136371	17185	OMIM:603383	GLAUCOMA 1, OPEN ANGLE, F; GLC1F			54
HP:0000504	HP:0000505	Visual impairment	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency			17
HP:0000504	HP:0000505	Visual impairment	1	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000504	HP:0000505	Visual impairment	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0000504	HP:0000505	Visual impairment	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs			4
HP:0000504	HP:0000505	Visual impairment	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0000504	HP:0000551	Color vision defect	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		10
HP:0000504	HP:0000613	Photophobia	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		10
HP:0000504	HP:0000505	Visual impairment	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000504	HP:0000551	Color vision defect	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000504	HP:0000613	Photophobia	1	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000504	HP:0000505	Visual impairment	1	ATF6 CL E G H	22926	791	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		10
HP:0000504	HP:0000551	Color vision defect	1	ATF6 CL E G H	22926	791	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		10
HP:0000504	HP:0000613	Photophobia	1	ATF6 CL E G H	22926	791	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		10
HP:0000504	HP:0000662	Nyctalopia	1	ATF6 CL E G H	22926	791	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		10
HP:0000504	HP:0000505	Visual impairment	1	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0000504	HP:0000505	Visual impairment	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0000504	HP:0000505	Visual impairment	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0000504	HP:0000505	Visual impairment	1	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000504	HP:0000505	Visual impairment	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000504	HP:0000505	Visual impairment	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000504	HP:0100576	Amaurosis fugax	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare		239
HP:0000504	HP:0011514	Abnormality of binocular vision	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000504	HP:0012508	Metamorphopsia	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		239
HP:0000504	HP:0030786	Photopsia	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		239
HP:0000504	HP:0000622	Blurred vision	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.		239
HP:0000504	HP:0011514	Abnormality of binocular vision	1	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2			239
HP:0000504	HP:0000505	Visual impairment	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0000504	HP:0000505	Visual impairment	1	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000622	Blurred vision	1	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000505	Visual impairment	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0000504	HP:0000505	Visual impairment	1	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0000504	HP:0000505	Visual impairment	1	ATP6V0A1 CL E G H	535	865	OMIM:619970				1
HP:0000504	HP:0000505	Visual impairment	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0000504	HP:0000505	Visual impairment	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040283 - Occasional		169
HP:0000504	HP:0011514	Abnormality of binocular vision	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0000504	HP:0011514	Abnormality of binocular vision	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1			14
HP:0000504	HP:0011514	Abnormality of binocular vision	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2			14
HP:0000504	HP:0011514	Abnormality of binocular vision	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3			14
HP:0000504	HP:0000505	Visual impairment	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:0000504	HP:0000505	Visual impairment	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7			8
HP:0000504	HP:0000613	Photophobia	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040283 - Occasional		8
HP:0000504	HP:0012047	Hemeralopia	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040283 - Occasional		8
HP:0000504	HP:0000505	Visual impairment	1	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		43
HP:0000504	HP:0000505	Visual impairment	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11			43
HP:0000504	HP:0000505	Visual impairment	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:0000504	HP:0000505	Visual impairment	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0000504	HP:0000505	Visual impairment	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0000504	HP:0000505	Visual impairment	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000504	HP:0000505	Visual impairment	1	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma			184
HP:0000504	HP:0012508	Metamorphopsia	1	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional		184
HP:0000504	HP:0030786	Photopsia	1	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional		184
HP:0000504	HP:0000505	Visual impairment	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000504	HP:0000662	Nyctalopia	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000504	HP:0000505	Visual impairment	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0000504	HP:0000613	Photophobia	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0000504	HP:0000662	Nyctalopia	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0000504	HP:0000505	Visual impairment	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0000504	HP:0000613	Photophobia	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0000504	HP:0000662	Nyctalopia	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0000504	HP:0000505	Visual impairment	1	BBS2 CL E G H	583	967	OMIM:616562	Retinitis pigmentosa 74			97
HP:0000504	HP:0000662	Nyctalopia	1	BBS4 CL E G H	585	969	OMIM:615982	Bardet-Biedl syndrome 4			87
HP:0000504	HP:0000505	Visual impairment	1	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5			25
HP:0000504	HP:0000505	Visual impairment	1	BCL10 CL E G H	8915	989	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		18
HP:0000504	HP:0000505	Visual impairment	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		101
HP:0000504	HP:0000505	Visual impairment	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000504	HP:0000505	Visual impairment	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0000504	HP:0000505	Visual impairment	1	BDNF CL E G H	627	1033	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		5
HP:0000504	HP:0000505	Visual impairment	1	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent		182
HP:0000504	HP:0000551	Color vision defect	1	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		182
HP:0000504	HP:0000505	Visual impairment	1	BEST1 CL E G H	7439	12703	ORPHA:1243	Best vitelliform macular dystrophy	HP:0040281 - Very frequent		182
HP:0000504	HP:0000551	Color vision defect	1	BEST1 CL E G H	7439	12703	ORPHA:1243	Best vitelliform macular dystrophy	HP:0040282 - Frequent		182
HP:0000504	HP:0012508	Metamorphopsia	1	BEST1 CL E G H	7439	12703	ORPHA:1243	Best vitelliform macular dystrophy	HP:0040281 - Very frequent		182
HP:0000504	HP:0000505	Visual impairment	1	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0000504	HP:0000505	Visual impairment	1	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2	.		182
HP:0000504	HP:0000505	Visual impairment	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0000504	HP:0000613	Photophobia	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0000504	HP:0000662	Nyctalopia	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0000504	HP:0000505	Visual impairment	1	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50			182
HP:0000504	HP:0000662	Nyctalopia	1	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50			182
HP:0000504	HP:0000505	Visual impairment	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY			182
HP:0000504	HP:0000551	Color vision defect	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.		182
HP:0000504	HP:0000662	Nyctalopia	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.		182
HP:0000504	HP:0000505	Visual impairment	1	BIRC3 CL E G H	330	591	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0000504	HP:0000505	Visual impairment	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000504	HP:0000613	Photophobia	1	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000504	HP:0000505	Visual impairment	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000504	HP:0000505	Visual impairment	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0000504	HP:0100576	Amaurosis fugax	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0000504	HP:0000505	Visual impairment	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	HP:0040283 - Occasional		14
HP:0000504	HP:0000505	Visual impairment	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000504	HP:0000505	Visual impairment	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000504	HP:0000505	Visual impairment	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040283 - Occasional		276
HP:0000504	HP:0000505	Visual impairment	1	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:0000504	HP:0000505	Visual impairment	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0000504	HP:0000505	Visual impairment	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0000504	HP:0000505	Visual impairment	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0000504	HP:0000505	Visual impairment	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0000504	HP:0000505	Visual impairment	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0000504	HP:0000505	Visual impairment	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0000504	HP:0000505	Visual impairment	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0000504	HP:0000505	Visual impairment	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0000504	HP:0000505	Visual impairment	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000504	HP:0000505	Visual impairment	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000504	HP:0000505	Visual impairment	1	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration			20
HP:0000504	HP:0000551	Color vision defect	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000504	HP:0000613	Photophobia	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional		20
HP:0000504	HP:0000662	Nyctalopia	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent		20
HP:0000504	HP:0000662	Nyctalopia	1	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration			20
HP:0000504	HP:0000505	Visual impairment	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0000504	HP:0000613	Photophobia	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0000504	HP:0000505	Visual impairment	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.		29
HP:0000504	HP:0000505	Visual impairment	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0000504	HP:0000613	Photophobia	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0000504	HP:0000662	Nyctalopia	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0000504	HP:0000505	Visual impairment	1	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000504	HP:0000551	Color vision defect	1	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive	HP:0040283 - Occasional		94
HP:0000504	HP:0000613	Photophobia	1	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive	.		94
HP:0000504	HP:0000662	Nyctalopia	1	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000504	HP:0000505	Visual impairment	1	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0000504	HP:0000551	Color vision defect	1	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare		94
HP:0000504	HP:0000662	Nyctalopia	1	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		94
HP:0000504	HP:0011514	Abnormality of binocular vision	1	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2			449
HP:0000504	HP:0000505	Visual impairment	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000504	HP:0100576	Amaurosis fugax	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare		449
HP:0000504	HP:0011514	Abnormality of binocular vision	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000504	HP:0012508	Metamorphopsia	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		449
HP:0000504	HP:0030786	Photopsia	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		449
HP:0000504	HP:0011514	Abnormality of binocular vision	1	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia			449
HP:0000504	HP:0000622	Blurred vision	1	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1			449
HP:0000504	HP:0011514	Abnormality of binocular vision	1	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6			449
HP:0000504	HP:0030511	Bradyopsia	1	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040281 - Very frequent		449
HP:0000504	HP:0000505	Visual impairment	1	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements			5
HP:0000504	HP:0000505	Visual impairment	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0000504	HP:0000505	Visual impairment	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0000504	HP:0000505	Visual impairment	1	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69			11
HP:0000504	HP:0000505	Visual impairment	1	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease			58
HP:0000504	HP:0000505	Visual impairment	1	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease			58
HP:0000504	HP:0000551	Color vision defect	1	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent		58
HP:0000504	HP:0030512	Difficulty adjusting to changes in luminance	1	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease			58
HP:0000504	HP:0000505	Visual impairment	1	CACNA1F CL E G H	778	1393	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		58
HP:0000504	HP:0000551	Color vision defect	1	CACNA1F CL E G H	778	1393	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		58
HP:0000504	HP:0000613	Photophobia	1	CACNA1F CL E G H	778	1393	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		58
HP:0000504	HP:0000662	Nyctalopia	1	CACNA1F CL E G H	778	1393	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		58
HP:0000504	HP:0000505	Visual impairment	1	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000504	HP:0000551	Color vision defect	1	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000504	HP:0000613	Photophobia	1	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3	HP:0040283 - Occasional		58
HP:0000504	HP:0000505	Visual impairment	1	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0000504	HP:0000551	Color vision defect	1	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare		58
HP:0000504	HP:0000662	Nyctalopia	1	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		58
HP:0000504	HP:0000505	Visual impairment	1	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A	.		58
HP:0000504	HP:0000662	Nyctalopia	1	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A			58
HP:0000504	HP:0011514	Abnormality of binocular vision	1	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0000504	HP:0011514	Abnormality of binocular vision	1	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42			32
HP:0000504	HP:0000505	Visual impairment	1	CACNA2D4 CL E G H	93589	20202	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		129
HP:0000504	HP:0000551	Color vision defect	1	CACNA2D4 CL E G H	93589	20202	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		129
HP:0000504	HP:0000613	Photophobia	1	CACNA2D4 CL E G H	93589	20202	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		129
HP:0000504	HP:0000662	Nyctalopia	1	CACNA2D4 CL E G H	93589	20202	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		129
HP:0000504	HP:0000505	Visual impairment	1	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0000504	HP:0000551	Color vision defect	1	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare		129
HP:0000504	HP:0000662	Nyctalopia	1	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		129
HP:0000504	HP:0000505	Visual impairment	1	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0000504	HP:0000613	Photophobia	1	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4	.		129
HP:0000504	HP:0100576	Amaurosis fugax	1	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		1
HP:0000504	HP:0000505	Visual impairment	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54	.
HP:0000504	HP:0000505	Visual impairment	1	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory			6
HP:0000504	HP:0000613	Photophobia	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0000504	HP:0000505	Visual impairment	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.		35
HP:0000504	HP:0000505	Visual impairment	1	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040282 - Frequent		118
HP:0000504	HP:0000505	Visual impairment	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0000504	HP:0000505	Visual impairment	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0000504	HP:0000505	Visual impairment	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0000504	HP:0000505	Visual impairment	1	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0000504	HP:0000505	Visual impairment	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		247
HP:0000504	HP:0000505	Visual impairment	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		247
HP:0000504	HP:0000505	Visual impairment	1	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93			247
HP:0000504	HP:0000505	Visual impairment	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000504	HP:0000551	Color vision defect	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000504	HP:0000662	Nyctalopia	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000504	HP:0000505	Visual impairment	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0000504	HP:0000505	Visual impairment	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0000504	HP:0000505	Visual impairment	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0000504	HP:0000613	Photophobia	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0000504	HP:0000505	Visual impairment	1	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0000504	HP:0000505	Visual impairment	1	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			8
HP:0000504	HP:0000505	Visual impairment	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome			6
HP:0000504	HP:0000505	Visual impairment	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000504	HP:0000505	Visual impairment	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040283 - Occasional		636
HP:0000504	HP:0000505	Visual impairment	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000504	HP:0011514	Abnormality of binocular vision	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000504	HP:0000505	Visual impairment	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000504	HP:0011514	Abnormality of binocular vision	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000504	HP:0000505	Visual impairment	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000504	HP:0000662	Nyctalopia	1	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0000504	HP:0000505	Visual impairment	1	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0000504	HP:0000505	Visual impairment	1	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0000504	HP:0000505	Visual impairment	1	CDHR1 CL E G H	92211	14550	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		147
HP:0000504	HP:0000551	Color vision defect	1	CDHR1 CL E G H	92211	14550	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		147
HP:0000504	HP:0000613	Photophobia	1	CDHR1 CL E G H	92211	14550	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		147
HP:0000504	HP:0000662	Nyctalopia	1	CDHR1 CL E G H	92211	14550	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		147
HP:0000504	HP:0000505	Visual impairment	1	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000504	HP:0000551	Color vision defect	1	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000504	HP:0000613	Photophobia	1	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000504	HP:0000662	Nyctalopia	1	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000504	HP:0000505	Visual impairment	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0000504	HP:0000613	Photophobia	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0000504	HP:0000662	Nyctalopia	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0000504	HP:0000505	Visual impairment	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000504	HP:0000505	Visual impairment	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0000504	HP:0000505	Visual impairment	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0000504	HP:0000505	Visual impairment	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0000504	HP:0000505	Visual impairment	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0000504	HP:0000505	Visual impairment	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0000504	HP:0000505	Visual impairment	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0000504	HP:0000505	Visual impairment	1	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15			34
HP:0000504	HP:0000505	Visual impairment	1	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		34
HP:0000504	HP:0000505	Visual impairment	1	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000504	HP:0000613	Photophobia	1	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000504	HP:0000505	Visual impairment	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0000504	HP:0000505	Visual impairment	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		342
HP:0000504	HP:0000505	Visual impairment	1	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis			342
HP:0000504	HP:0000505	Visual impairment	1	CEP290 CL E G H	80184	29021	OMIM:611755	Leber congenital amaurosis 10	.	HP:0003577 - Congenital onset	342
HP:0000504	HP:0000505	Visual impairment	1	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		342
HP:0000504	HP:0000505	Visual impairment	1	CEP290 CL E G H	80184	29021	OMIM:610189	Senior-Loken syndrome 6	.		342
HP:0000504	HP:0000505	Visual impairment	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0000504	HP:0000505	Visual impairment	1	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000504	HP:0000551	Color vision defect	1	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000504	HP:0000613	Photophobia	1	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000504	HP:0012047	Hemeralopia	1	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000504	HP:0000505	Visual impairment	1	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000504	HP:0000662	Nyctalopia	1	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		9
HP:0000504	HP:0000505	Visual impairment	1	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0000504	HP:0000505	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:0000504	HP:0000505	Visual impairment	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0000504	HP:0000613	Photophobia	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0000504	HP:0000662	Nyctalopia	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0000504	HP:0000505	Visual impairment	1	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0000504	HP:0000505	Visual impairment	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0000504	HP:0000505	Visual impairment	1	CFAP410 CL E G H	755	1260	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional
HP:0000504	HP:0000551	Color vision defect	1	CFAP410 CL E G H	755	1260	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent
HP:0000504	HP:0000613	Photophobia	1	CFAP410 CL E G H	755	1260	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent
HP:0000504	HP:0000662	Nyctalopia	1	CFAP410 CL E G H	755	1260	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent
HP:0000504	HP:0000505	Visual impairment	1	CFAP410 CL E G H	755	1260	OMIM:617547	Retinal dystrophy with or without macular staphyloma
HP:0000504	HP:0000613	Photophobia	1	CFAP410 CL E G H	755	1260	OMIM:617547	Retinal dystrophy with or without macular staphyloma	.
HP:0000504	HP:0000662	Nyctalopia	1	CFAP410 CL E G H	755	1260	OMIM:617547	Retinal dystrophy with or without macular staphyloma	.
HP:0000504	HP:0000505	Visual impairment	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000504	HP:0000505	Visual impairment	1	CFAP418 CL E G H	157657	27232	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional
HP:0000504	HP:0000551	Color vision defect	1	CFAP418 CL E G H	157657	27232	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent
HP:0000504	HP:0000613	Photophobia	1	CFAP418 CL E G H	157657	27232	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent
HP:0000504	HP:0000662	Nyctalopia	1	CFAP418 CL E G H	157657	27232	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent
HP:0000504	HP:0000505	Visual impairment	1	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000504	HP:0000613	Photophobia	1	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000504	HP:0000662	Nyctalopia	1	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000504	HP:0000505	Visual impairment	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000505	Visual impairment	1	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa
HP:0000504	HP:0000613	Photophobia	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000662	Nyctalopia	1	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa	.
HP:0000504	HP:0000662	Nyctalopia	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0000504	HP:0000505	Visual impairment	1	CFH CL E G H	3075	4883	OMIM:126700	Basal laminar drusen			86
HP:0000504	HP:0000505	Visual impairment	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen			86
HP:0000504	HP:0000613	Photophobia	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		86
HP:0000504	HP:0012508	Metamorphopsia	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040282 - Frequent		86
HP:0000504	HP:0000505	Visual impairment	1	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000504	HP:0000505	Visual impairment	1	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000504	HP:0000505	Visual impairment	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen			57
HP:0000504	HP:0000613	Photophobia	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		57
HP:0000504	HP:0012508	Metamorphopsia	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040282 - Frequent		57
HP:0000504	HP:0000505	Visual impairment	1	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13			57
HP:0000504	HP:0011514	Abnormality of binocular vision	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0000504	HP:0000505	Visual impairment	1	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome			2
HP:0000504	HP:0000505	Visual impairment	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		515
HP:0000504	HP:0000551	Color vision defect	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		515
HP:0000504	HP:0000505	Visual impairment	1	CHKA CL E G H	1119	1937	OMIM:620023
HP:0000504	HP:0000505	Visual impairment	1	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA			47
HP:0000504	HP:0000505	Visual impairment	1	CHM CL E G H	1121	1940	ORPHA:180	Choroideremia	HP:0040281 - Very frequent		47
HP:0000504	HP:0000662	Nyctalopia	1	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA	.		47
HP:0000504	HP:0000662	Nyctalopia	1	CHM CL E G H	1121	1940	ORPHA:180	Choroideremia	HP:0040281 - Very frequent		47
HP:0000504	HP:0000505	Visual impairment	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0000504	HP:0000505	Visual impairment	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000504	HP:0000505	Visual impairment	1	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2			35
HP:0000504	HP:0000505	Visual impairment	1	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive
HP:0000504	HP:0000505	Visual impairment	1	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA			9
HP:0000504	HP:0011514	Abnormality of binocular vision	1	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			74
HP:0000504	HP:0011514	Abnormality of binocular vision	1	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			53
HP:0000504	HP:0011514	Abnormality of binocular vision	1	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			88
HP:0000504	HP:0011514	Abnormality of binocular vision	1	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			139
HP:0000504	HP:0000505	Visual impairment	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:0000504	HP:0000505	Visual impairment	1	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy			129
HP:0000504	HP:0000613	Photophobia	1	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy	HP:0040283 - Occasional		129
HP:0000504	HP:0000613	Photophobia	1	CHST6 CL E G H	4166	6938	OMIM:217800	Macular dystrophy, corneal, 1	.		129
HP:0000504	HP:0000505	Visual impairment	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000504	HP:0000662	Nyctalopia	1	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0000504	HP:0000505	Visual impairment	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.		7
HP:0000504	HP:0000505	Visual impairment	1	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0000504	HP:0000613	Photophobia	1	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0000504	HP:0000662	Nyctalopia	1	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0000504	HP:0000505	Visual impairment	1	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia			44
HP:0000504	HP:0000505	Visual impairment	1	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome			45
HP:0000504	HP:0000505	Visual impairment	1	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome			45
HP:0000504	HP:0000505	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:0000504	HP:0000505	Visual impairment	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040282 - Frequent		102
HP:0000504	HP:0000505	Visual impairment	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0000504	HP:0000505	Visual impairment	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0000504	HP:0000505	Visual impairment	1	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare		102
HP:0000504	HP:0000505	Visual impairment	1	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2			102
HP:0000504	HP:0000505	Visual impairment	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.		102
HP:0000504	HP:0000622	Blurred vision	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0000504	HP:0000505	Visual impairment	1	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0000504	HP:0000662	Nyctalopia	1	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0000504	HP:0000505	Visual impairment	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0000504	HP:0000505	Visual impairment	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000504	HP:0000505	Visual impairment	1	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5			141
HP:0000504	HP:0000505	Visual impairment	1	CLN5 CL E G H	1203	2076	ORPHA:228360	CLN5 disease	HP:0040281 - Very frequent		141
HP:0000504	HP:0000505	Visual impairment	1	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6			143
HP:0000504	HP:0000505	Visual impairment	1	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8			111
HP:0000504	HP:0000505	Visual impairment	1	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040281 - Very frequent		111
HP:0000504	HP:0000505	Visual impairment	1	CLP1 CL E G H	10978	16999	ORPHA:411493	Pontocerebellar hypoplasia type 10	HP:0040284 - Very rare		7
HP:0000504	HP:0000505	Visual impairment	1	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa			60
HP:0000504	HP:0000505	Visual impairment	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0000504	HP:0000613	Photophobia	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0000504	HP:0000662	Nyctalopia	1	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa	.		60
HP:0000504	HP:0000662	Nyctalopia	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0000504	HP:0000505	Visual impairment	1	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0000504	HP:0000662	Nyctalopia	1	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0000504	HP:0000505	Visual impairment	1	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000504	HP:0000662	Nyctalopia	1	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		60
HP:0000504	HP:0000505	Visual impairment	1	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA			60
HP:0000504	HP:0000662	Nyctalopia	1	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA	.		60
HP:0000504	HP:0000505	Visual impairment	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56			1
HP:0000504	HP:0000613	Photophobia	1	CLTRN CL E G H	57393	29437	ORPHA:2116	Hartnup disease	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0000504	HP:0000505	Visual impairment	1	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa			44
HP:0000504	HP:0000613	Photophobia	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0000504	HP:0000662	Nyctalopia	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0000504	HP:0000662	Nyctalopia	1	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa	.		44
HP:0000504	HP:0000505	Visual impairment	1	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0000504	HP:0000662	Nyctalopia	1	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0000504	HP:0000505	Visual impairment	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0000504	HP:0000551	Color vision defect	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		82
HP:0000504	HP:0000613	Photophobia	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		82
HP:0000504	HP:0000505	Visual impairment	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000504	HP:0000551	Color vision defect	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000504	HP:0000613	Photophobia	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2	.		82
HP:0000504	HP:0012047	Hemeralopia	1	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2	.		82
HP:0000504	HP:0000505	Visual impairment	1	CNGA3 CL E G H	1261	2150	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		82
HP:0000504	HP:0000551	Color vision defect	1	CNGA3 CL E G H	1261	2150	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		82
HP:0000504	HP:0000613	Photophobia	1	CNGA3 CL E G H	1261	2150	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		82
HP:0000504	HP:0000662	Nyctalopia	1	CNGA3 CL E G H	1261	2150	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		82
HP:0000504	HP:0000505	Visual impairment	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0000504	HP:0000613	Photophobia	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0000504	HP:0000662	Nyctalopia	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0000504	HP:0000505	Visual impairment	1	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45			164
HP:0000504	HP:0000662	Nyctalopia	1	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45	.		164
HP:0000504	HP:0000505	Visual impairment	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0000504	HP:0000551	Color vision defect	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		194
HP:0000504	HP:0000613	Photophobia	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		194
HP:0000504	HP:0000505	Visual impairment	1	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000504	HP:0000551	Color vision defect	1	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000504	HP:0000613	Photophobia	1	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.		194
HP:0000504	HP:0000505	Visual impairment	1	CNGB3 CL E G H	54714	2153	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		194
HP:0000504	HP:0000551	Color vision defect	1	CNGB3 CL E G H	54714	2153	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		194
HP:0000504	HP:0000613	Photophobia	1	CNGB3 CL E G H	54714	2153	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		194
HP:0000504	HP:0000505	Visual impairment	1	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease			194
HP:0000504	HP:0000551	Color vision defect	1	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		194
HP:0000504	HP:0000662	Nyctalopia	1	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		194
HP:0000504	HP:0000505	Visual impairment	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000504	HP:0000505	Visual impairment	1	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome	HP:0040281 - Very frequent		61
HP:0000504	HP:0000551	Color vision defect	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000504	HP:0000551	Color vision defect	1	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome	HP:0040281 - Very frequent		61
HP:0000504	HP:0000613	Photophobia	1	CNNM4 CL E G H	26504	105	ORPHA:1873	Jalili syndrome	HP:0040281 - Very frequent		61
HP:0000504	HP:0000613	Photophobia	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome	.		61
HP:0000504	HP:0000662	Nyctalopia	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome	.		61
HP:0000504	HP:0100576	Amaurosis fugax	1	CNTN2 CL E G H	6900	2172	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional		9
HP:0000504	HP:0000505	Visual impairment	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0000504	HP:0000662	Nyctalopia	1	COG4 CL E G H	25839	18620	OMIM:618150	Saul-Wilson syndrome	.		67
HP:0000504	HP:0000505	Visual impairment	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0000504	HP:0000505	Visual impairment	1	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0000504	HP:0000505	Visual impairment	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent		215
HP:0000504	HP:0011514	Abnormality of binocular vision	1	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			6
HP:0000504	HP:0011514	Abnormality of binocular vision	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0000504	HP:0000505	Visual impairment	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0000504	HP:0000505	Visual impairment	1	COL17A1 CL E G H	1308	2194	OMIM:122400	Epithelial recurrent erosion dystrophy	.		129
HP:0000504	HP:0000613	Photophobia	1	COL17A1 CL E G H	1308	2194	OMIM:122400	Epithelial recurrent erosion dystrophy	.		129
HP:0000504	HP:0000613	Photophobia	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040282 - Frequent		129
HP:0000504	HP:0000622	Blurred vision	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040282 - Frequent		129
HP:0000504	HP:0000505	Visual impairment	1	COL18A1 CL E G H	80781	2195	OMIM:618880	GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC			177
HP:0000504	HP:0000505	Visual impairment	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome			177
HP:0000504	HP:0000505	Visual impairment	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0000504	HP:0000505	Visual impairment	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000504	HP:0000505	Visual impairment	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		284
HP:0000504	HP:0000505	Visual impairment	1	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0000504	HP:0000505	Visual impairment	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0000504	HP:0000505	Visual impairment	1	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm			749
HP:0000504	HP:0000505	Visual impairment	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0000504	HP:0000622	Blurred vision	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.		193
HP:0000504	HP:0000613	Photophobia	1	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of			193
HP:0000504	HP:0000505	Visual impairment	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0000504	HP:0000505	Visual impairment	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0000504	HP:0000505	Visual impairment	1	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000504	HP:0000662	Nyctalopia	1	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000504	HP:0000505	Visual impairment	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy			3
HP:0000504	HP:0000613	Photophobia	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		3
HP:0000504	HP:0000622	Blurred vision	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		3
HP:0000504	HP:0000505	Visual impairment	1	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000504	HP:0000505	Visual impairment	1	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000504	HP:0000505	Visual impairment	1	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0000504	HP:0000505	Visual impairment	1	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0000504	HP:0000505	Visual impairment	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0000504	HP:0000505	Visual impairment	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0000504	HP:0000505	Visual impairment	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8	.		1
HP:0000504	HP:0000505	Visual impairment	1	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000622	Blurred vision	1	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0000504	HP:0000505	Visual impairment	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0000504	HP:0000505	Visual impairment	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000622	Blurred vision	1	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000505	Visual impairment	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0000504	HP:0000505	Visual impairment	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0000504	HP:0000505	Visual impairment	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional		6
HP:0000504	HP:0000505	Visual impairment	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0000504	HP:0000505	Visual impairment	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000504	HP:0000505	Visual impairment	1	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis			156
HP:0000504	HP:0000505	Visual impairment	1	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.	HP:0011463 - Childhood onset	156
HP:0000504	HP:0000505	Visual impairment	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0000504	HP:0000613	Photophobia	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0000504	HP:0000662	Nyctalopia	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0000504	HP:0000505	Visual impairment	1	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000504	HP:0000662	Nyctalopia	1	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12	.		156
HP:0000504	HP:0000505	Visual impairment	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000504	HP:0000505	Visual impairment	1	CRX CL E G H	1406	2383	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		158
HP:0000504	HP:0000551	Color vision defect	1	CRX CL E G H	1406	2383	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		158
HP:0000504	HP:0000613	Photophobia	1	CRX CL E G H	1406	2383	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		158
HP:0000504	HP:0000662	Nyctalopia	1	CRX CL E G H	1406	2383	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		158
HP:0000504	HP:0000505	Visual impairment	1	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000504	HP:0000551	Color vision defect	1	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000504	HP:0000662	Nyctalopia	1	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000504	HP:0012508	Metamorphopsia	1	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000504	HP:0000505	Visual impairment	1	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis			158
HP:0000504	HP:0000505	Visual impairment	1	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7	.		158
HP:0000504	HP:0000613	Photophobia	1	CRX CL E G H	1406	2383	OMIM:613829	Leber congenital amaurosis 7	.		158
HP:0000504	HP:0000505	Visual impairment	1	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa			158
HP:0000504	HP:0000505	Visual impairment	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0000504	HP:0000613	Photophobia	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0000504	HP:0000662	Nyctalopia	1	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa	.		158
HP:0000504	HP:0000662	Nyctalopia	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0000504	HP:0000505	Visual impairment	1	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types	.		33
HP:0000504	HP:0000505	Visual impairment	1	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types			18
HP:0000504	HP:0000505	Visual impairment	1	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types	.		11
HP:0000504	HP:0000613	Photophobia	1	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types	HP:0040283 - Occasional		11
HP:0000504	HP:0000505	Visual impairment	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	HP:0040284 - Very rare		149
HP:0000504	HP:0000505	Visual impairment	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0000504	HP:0000613	Photophobia	1	CST6 CL E G H	1474	2478	OMIM:618535	Ectodermal dysplasia 15, Hypohidrotic/hair type	.
HP:0000504	HP:0000505	Visual impairment	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0000504	HP:0000505	Visual impairment	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		10
HP:0000504	HP:0000505	Visual impairment	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000504	HP:0000505	Visual impairment	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0000504	HP:0100832	Vitreous floaters	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0000504	HP:0100576	Amaurosis fugax	1	CTNND2 CL E G H	1501	2516	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional		15
HP:0000504	HP:0000613	Photophobia	1	CTNS CL E G H	1497	2518	OMIM:219750	Cystinosis, adult nonnephropathic	.		178
HP:0000504	HP:0000613	Photophobia	1	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type			178
HP:0000504	HP:0000505	Visual impairment	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0000504	HP:0000613	Photophobia	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0000504	HP:0000613	Photophobia	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent		178
HP:0000504	HP:0000613	Photophobia	1	CTNS CL E G H	1497	2518	ORPHA:411634	Juvenile nephropathic cystinosis	HP:0040282 - Frequent		178
HP:0000504	HP:0000505	Visual impairment	1	CTNS CL E G H	1497	2518	ORPHA:411641	Ocular cystinosis	HP:0040281 - Very frequent		178
HP:0000504	HP:0000613	Photophobia	1	CTNS CL E G H	1497	2518	ORPHA:411641	Ocular cystinosis	HP:0040281 - Very frequent		178
HP:0000504	HP:0000505	Visual impairment	1	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10			159
HP:0000504	HP:0000505	Visual impairment	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0000504	HP:0000662	Nyctalopia	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040282 - Frequent		4
HP:0000504	HP:0000505	Visual impairment	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000504	HP:0000662	Nyctalopia	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000504	HP:0000505	Visual impairment	1	CYP1B1 CL E G H	1545	2597	ORPHA:98976	Congenital glaucoma			101
HP:0000504	HP:0000505	Visual impairment	1	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		101
HP:0000504	HP:0000505	Visual impairment	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040281 - Very frequent		114
HP:0000504	HP:0000505	Visual impairment	1	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000504	HP:0000662	Nyctalopia	1	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000504	HP:0000505	Visual impairment	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent		126
HP:0000504	HP:0000551	Color vision defect	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional		126
HP:0000504	HP:0000662	Nyctalopia	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent		126
HP:0000504	HP:0000505	Visual impairment	1	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma			1
HP:0000504	HP:0012508	Metamorphopsia	1	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional		1
HP:0000504	HP:0030786	Photopsia	1	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional		1
HP:0000504	HP:0000505	Visual impairment	1	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000622	Blurred vision	1	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000505	Visual impairment	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0000504	HP:0011514	Abnormality of binocular vision	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0000504	HP:0000622	Blurred vision	1	DBH CL E G H	1621	2689	ORPHA:230	Dopamine beta-hydroxylase deficiency	HP:0040283 - Occasional		80
HP:0000504	HP:0000505	Visual impairment	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		36
HP:0000504	HP:0000551	Color vision defect	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		36
HP:0000504	HP:0000505	Visual impairment	1	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal			31
HP:0000504	HP:0000505	Visual impairment	1	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000504	HP:0000613	Photophobia	1	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000504	HP:0000613	Photophobia	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		30
HP:0000504	HP:0000613	Photophobia	1	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.		30
HP:0000504	HP:0000505	Visual impairment	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0000504	HP:0000505	Visual impairment	1	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040283 - Occasional		57
HP:0000504	HP:0000505	Visual impairment	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000504	HP:0000613	Photophobia	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000504	HP:0000662	Nyctalopia	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0000504	HP:0000505	Visual impairment	1	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0000504	HP:0000662	Nyctalopia	1	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0000504	HP:0000505	Visual impairment	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:0000504	HP:0000505	Visual impairment	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000504	HP:0000613	Photophobia	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000504	HP:0000662	Nyctalopia	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0000504	HP:0000505	Visual impairment	1	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome			118
HP:0000504	HP:0000505	Visual impairment	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0000504	HP:0000505	Visual impairment	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0000504	HP:0000505	Visual impairment	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0000504	HP:0000505	Visual impairment	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0000504	HP:0000613	Photophobia	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0000504	HP:0011514	Abnormality of binocular vision	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0000504	HP:0000505	Visual impairment	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0000504	HP:0000505	Visual impairment	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0000504	HP:0000505	Visual impairment	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0000504	HP:0000505	Visual impairment	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0000504	HP:0000505	Visual impairment	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0000504	HP:0000505	Visual impairment	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0000504	HP:0011514	Abnormality of binocular vision	1	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0000504	HP:0000505	Visual impairment	1	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000622	Blurred vision	1	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000504	HP:0000505	Visual impairment	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000551	Color vision defect	1	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		6
HP:0000504	HP:0011514	Abnormality of binocular vision	1	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease			6
HP:0000504	HP:0000505	Visual impairment	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040281 - Very frequent		94
HP:0000504	HP:0000551	Color vision defect	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		94
HP:0000504	HP:0000505	Visual impairment	1	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000504	HP:0000551	Color vision defect	1	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000504	HP:0000505	Visual impairment	1	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome			11
HP:0000504	HP:0000505	Visual impairment	1	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23			11
HP:0000504	HP:0000505	Visual impairment	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000504	HP:0011514	Abnormality of binocular vision	1	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			91
HP:0000504	HP:0000505	Visual impairment	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0000504	HP:0000662	Nyctalopia	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0000504	HP:0000505	Visual impairment	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0000504	HP:0000505	Visual impairment	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0000504	HP:0000505	Visual impairment	1	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0000504	HP:0000505	Visual impairment	1	DRAM2 CL E G H	128338	28769	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		9
HP:0000504	HP:0000551	Color vision defect	1	DRAM2 CL E G H	128338	28769	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		9
HP:0000504	HP:0000613	Photophobia	1	DRAM2 CL E G H	128338	28769	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		9
HP:0000504	HP:0000662	Nyctalopia	1	DRAM2 CL E G H	128338	28769	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		9
HP:0000504	HP:0000505	Visual impairment	1	DRAM2 CL E G H	128338	28769	OMIM:616502	Cone-Rod dystrophy 21			9
HP:0000504	HP:0000613	Photophobia	1	DRAM2 CL E G H	128338	28769	OMIM:616502	Cone-Rod dystrophy 21	HP:0040283 - Occasional		9
HP:0000504	HP:0000662	Nyctalopia	1	DRAM2 CL E G H	128338	28769	OMIM:616502	Cone-Rod dystrophy 21	HP:0040283 - Occasional		9
HP:0000504	HP:0000505	Visual impairment	1	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.		46
HP:0000504	HP:0000505	Visual impairment	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000504	HP:0000505	Visual impairment	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000504	HP:0000551	Color vision defect	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000504	HP:0000505	Visual impairment	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0000504	HP:0000505	Visual impairment	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.		80
HP:0000504	HP:0000613	Photophobia	1	EDNRA CL E G H	1909	3179	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.		3
HP:0000504	HP:0000505	Visual impairment	1	EFEMP1 CL E G H	2202	3218	OMIM:126600	Doyne honeycomb retinal dystrophy	.		54
HP:0000504	HP:0000505	Visual impairment	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen			54
HP:0000504	HP:0000613	Photophobia	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		54
HP:0000504	HP:0012508	Metamorphopsia	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040282 - Frequent		54
HP:0000504	HP:0000505	Visual impairment	1	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		54
HP:0000504	HP:0000505	Visual impairment	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0000504	HP:0000505	Visual impairment	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0000504	HP:0000505	Visual impairment	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0000504	HP:0000505	Visual impairment	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0000504	HP:0000505	Visual impairment	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0000504	HP:0011514	Abnormality of binocular vision	1	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease			2
HP:0000504	HP:0000505	Visual impairment	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous			3
HP:0000504	HP:0000505	Visual impairment	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0000504	HP:0000505	Visual impairment	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000504	HP:0000505	Visual impairment	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000504	HP:0000613	Photophobia	1	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	.
HP:0000504	HP:0000505	Visual impairment	1	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease			62
HP:0000504	HP:0000551	Color vision defect	1	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		62
HP:0000504	HP:0000662	Nyctalopia	1	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		62
HP:0000504	HP:0000505	Visual impairment	1	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3			62
HP:0000504	HP:0000505	Visual impairment	1	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2			4
HP:0000504	HP:0000505	Visual impairment	1	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000504	HP:0000505	Visual impairment	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome			5
HP:0000504	HP:0000505	Visual impairment	1	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm			186
HP:0000504	HP:0000505	Visual impairment	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0000504	HP:0000505	Visual impairment	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		151
HP:0000504	HP:0012508	Metamorphopsia	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		151
HP:0000504	HP:0000613	Photophobia	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040283 - Occasional		170
HP:0000504	HP:0000505	Visual impairment	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0000504	HP:0100576	Amaurosis fugax	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0000504	HP:0000505	Visual impairment	1	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora			83
HP:0000504	HP:0000505	Visual impairment	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000504	HP:0000505	Visual impairment	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0000504	HP:0000613	Photophobia	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0000504	HP:0000505	Visual impairment	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0000504	HP:0000613	Photophobia	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0000504	HP:0000505	Visual impairment	1	ERCC1 CL E G H	2067	3433	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		20
HP:0000504	HP:0000505	Visual impairment	1	ERCC2 CL E G H	2068	3434	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		106
HP:0000504	HP:0000613	Photophobia	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0000504	HP:0000613	Photophobia	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	.		106
HP:0000504	HP:0000613	Photophobia	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		106
HP:0000504	HP:0000613	Photophobia	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.		106
HP:0000504	HP:0011514	Abnormality of binocular vision	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0000504	HP:0000613	Photophobia	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0000504	HP:0000613	Photophobia	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		54
HP:0000504	HP:0011514	Abnormality of binocular vision	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0000504	HP:0000505	Visual impairment	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent		158
HP:0000504	HP:0000613	Photophobia	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		158
HP:0000504	HP:0000505	Visual impairment	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0000504	HP:0000613	Photophobia	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		158
HP:0000504	HP:0011514	Abnormality of binocular vision	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0000504	HP:0000505	Visual impairment	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.		158
HP:0000504	HP:0000505	Visual impairment	1	ERCC5 CL E G H	2073	3437	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		83
HP:0000504	HP:0000613	Photophobia	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		83
HP:0000504	HP:0011514	Abnormality of binocular vision	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0000504	HP:0000505	Visual impairment	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent		199
HP:0000504	HP:0000613	Photophobia	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		199
HP:0000504	HP:0000505	Visual impairment	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0000504	HP:0000613	Photophobia	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0000504	HP:0000613	Photophobia	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0000504	HP:0000505	Visual impairment	1	ERCC6 CL E G H	2074	3438	ORPHA:1466	COFS syndrome	HP:0040282 - Frequent		199
HP:0000504	HP:0000505	Visual impairment	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040282 - Frequent		55
HP:0000504	HP:0000613	Photophobia	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		55
HP:0000504	HP:0000505	Visual impairment	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0000504	HP:0000613	Photophobia	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0000504	HP:0000613	Photophobia	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0000504	HP:0000505	Visual impairment	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000504	HP:0000505	Visual impairment	1	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000504	HP:0000662	Nyctalopia	1	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0000504	HP:0000662	Nyctalopia	1	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0000504	HP:0000613	Photophobia	1	ESR1 CL E G H	2099	3467	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.		13
HP:0000504	HP:0000505	Visual impairment	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000504	HP:0000505	Visual impairment	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000504	HP:0000505	Visual impairment	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.		4
HP:0000504	HP:0000505	Visual impairment	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000504	HP:0000505	Visual impairment	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0000504	HP:0000613	Photophobia	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0000504	HP:0000662	Nyctalopia	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0000504	HP:0000505	Visual impairment	1	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0000504	HP:0000613	Photophobia	1	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25	.		209
HP:0000504	HP:0000662	Nyctalopia	1	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0000504	HP:0000505	Visual impairment	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0000504	HP:0000551	Color vision defect	1	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0000504	HP:0000505	Visual impairment	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0000504	HP:0000613	Photophobia	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0000504	HP:0000662	Nyctalopia	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0000504	HP:0000505	Visual impairment	1	FAM161A CL E G H	84140	25808	OMIM:606068	RETINITIS PIGMENTOSA 28; RP28			56
HP:0000504	HP:0000662	Nyctalopia	1	FAM161A CL E G H	84140	25808	OMIM:606068	RETINITIS PIGMENTOSA 28; RP28			56
HP:0000504	HP:0000505	Visual impairment	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0000504	HP:0100576	Amaurosis fugax	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0000504	HP:0000505	Visual impairment	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0000504	HP:0000505	Visual impairment	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0000504	HP:0000505	Visual impairment	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0000504	HP:0000505	Visual impairment	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0000504	HP:0000505	Visual impairment	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000504	HP:0000505	Visual impairment	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0000504	HP:0000505	Visual impairment	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0000504	HP:0000505	Visual impairment	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0000504	HP:0000505	Visual impairment	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0000504	HP:0000505	Visual impairment	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0000504	HP:0000505	Visual impairment	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	HP:0040283 - Occasional		36
HP:0000504	HP:0000505	Visual impairment	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0000504	HP:0000613	Photophobia	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		59
HP:0000504	HP:0000505	Visual impairment	1	FAS CL E G H	355	11920	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040282 - Frequent		59
HP:0000504	HP:0000505	Visual impairment	1	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		1361
HP:0000504	HP:0000505	Visual impairment	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0000504	HP:0000505	Visual impairment	1	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0000504	HP:0000505	Visual impairment	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000504	HP:0000505	Visual impairment	1	FBN2 CL E G H	2201	3604	OMIM:616118	MACULAR DEGENERATION, EARLY-ONSET; EOMD			655
HP:0000504	HP:0000505	Visual impairment	1	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000504	HP:0000505	Visual impairment	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0000504	HP:0000505	Visual impairment	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000504	HP:0000505	Visual impairment	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	HP:0040284 - Very rare
HP:0000504	HP:0000505	Visual impairment	1	FDXR CL E G H	2232	3642	OMIM:617717	Auditory neuropathy and optic atrophy	.
HP:0000504	HP:0000505	Visual impairment	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		2
HP:0000504	HP:0000551	Color vision defect	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		2
HP:0000504	HP:0000505	Visual impairment	1	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47			3
HP:0000504	HP:0000551	Color vision defect	1	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0000504	HP:0000505	Visual impairment	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		3
HP:0000504	HP:0000551	Color vision defect	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		3
HP:0000504	HP:0000505	Visual impairment	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0000504	HP:0000505	Visual impairment	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		17
HP:0000504	HP:0000551	Color vision defect	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		17
HP:0000504	HP:0000505	Visual impairment	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0000504	HP:0000505	Visual impairment	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0000504	HP:0000505	Visual impairment	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0000504	HP:0000505	Visual impairment	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		172
HP:0000504	HP:0000551	Color vision defect	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		172
HP:0000504	HP:0000505	Visual impairment	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0000504	HP:0000505	Visual impairment	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0000504	HP:0000505	Visual impairment	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent		172
HP:0000504	HP:0000505	Visual impairment	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional		175
HP:0000504	HP:0000505	Visual impairment	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000504	HP:0000505	Visual impairment	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.		175
HP:0000504	HP:0000662	Nyctalopia	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0000504	HP:0000505	Visual impairment	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0000504	HP:0000505	Visual impairment	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0000504	HP:0000505	Visual impairment	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000504	HP:0000505	Visual impairment	1	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040283 - Occasional		145
HP:0000504	HP:0000505	Visual impairment	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000504	HP:0000505	Visual impairment	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000504	HP:0000505	Visual impairment	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.		301
HP:0000504	HP:0000505	Visual impairment	1	FIG4 CL E G H	9896	16873	ORPHA:208441	Bilateral parasagittal parieto-occipital polymicrogyria	HP:0040283 - Occasional		111
HP:0000504	HP:0000505	Visual impairment	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0000504	HP:0000505	Visual impairment	1	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		157
HP:0000504	HP:0000505	Visual impairment	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000504	HP:0000505	Visual impairment	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040283 - Occasional		184
HP:0000504	HP:0000505	Visual impairment	1	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		184
HP:0000504	HP:0000505	Visual impairment	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000504	HP:0000505	Visual impairment	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0000504	HP:0000505	Visual impairment	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000504	HP:0000551	Color vision defect	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		4
HP:0000504	HP:0000505	Visual impairment	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0000504	HP:0000662	Nyctalopia	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0000504	HP:0000505	Visual impairment	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome			111
HP:0000504	HP:0000662	Nyctalopia	1	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040282 - Frequent		111
HP:0000504	HP:0000505	Visual impairment	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional		9
HP:0000504	HP:0000505	Visual impairment	1	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia			63
HP:0000504	HP:0000613	Photophobia	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.		20
HP:0000504	HP:0000613	Photophobia	1	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040281 - Very frequent		20
HP:0000504	HP:0000505	Visual impairment	1	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2			23
HP:0000504	HP:0000505	Visual impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0000504	HP:0000505	Visual impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0000504	HP:0000505	Visual impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0000504	HP:0000505	Visual impairment	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0000504	HP:0000505	Visual impairment	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0000504	HP:0000505	Visual impairment	1	FOXP1 CL E G H	27086	3823	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		184
HP:0000504	HP:0000505	Visual impairment	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0000504	HP:0000505	Visual impairment	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0000504	HP:0000505	Visual impairment	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000504	HP:0000505	Visual impairment	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000504	HP:0000505	Visual impairment	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000504	HP:0000505	Visual impairment	1	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked			38
HP:0000504	HP:0000505	Visual impairment	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0000504	HP:0000613	Photophobia	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0000504	HP:0000662	Nyctalopia	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0000504	HP:0000505	Visual impairment	1	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30			26
HP:0000504	HP:0000662	Nyctalopia	1	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30			26
HP:0000504	HP:0000505	Visual impairment	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0000504	HP:0000505	Visual impairment	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	HP:0040283 - Occasional		18
HP:0000504	HP:0000505	Visual impairment	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1			109
HP:0000504	HP:0100832	Vitreous floaters	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1			109
HP:0000504	HP:0000505	Visual impairment	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0000504	HP:0100832	Vitreous floaters	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0000504	HP:0000505	Visual impairment	1	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000504	HP:0000505	Visual impairment	1	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity			109
HP:0000504	HP:0000505	Visual impairment	1	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0000504	HP:0000505	Visual impairment	1	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45			3
HP:0000504	HP:0000505	Visual impairment	1	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2			44
HP:0000504	HP:0000505	Visual impairment	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0000504	HP:0000505	Visual impairment	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0000504	HP:0000505	Visual impairment	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0000504	HP:0000613	Photophobia	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0000504	HP:0000505	Visual impairment	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0000504	HP:0000505	Visual impairment	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional		160
HP:0000504	HP:0000613	Photophobia	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive			121
HP:0000504	HP:0000505	Visual impairment	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0000504	HP:0000505	Visual impairment	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0000504	HP:0000505	Visual impairment	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0000504	HP:0000505	Visual impairment	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0000504	HP:0000505	Visual impairment	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0000504	HP:0000505	Visual impairment	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0000504	HP:0011514	Abnormality of binocular vision	1	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease
HP:0000504	HP:0000505	Visual impairment	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0000504	HP:0000505	Visual impairment	1	GDF3 CL E G H	9573	4218	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6			7
HP:0000504	HP:0000505	Visual impairment	1	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis			64
HP:0000504	HP:0000505	Visual impairment	1	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17			64
HP:0000504	HP:0000505	Visual impairment	1	GDF6 CL E G H	392255	4221	OMIM:613703	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB6			64
HP:0000504	HP:0000662	Nyctalopia	1	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	HP:0040280 - Obligate		129
HP:0000504	HP:0011514	Abnormality of binocular vision	1	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease			8
HP:0000504	HP:0000613	Photophobia	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0000504	HP:0000505	Visual impairment	1	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040283 - Occasional		68
HP:0000504	HP:0000505	Visual impairment	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0000504	HP:0000505	Visual impairment	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0000504	HP:0000613	Photophobia	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0000504	HP:0000505	Visual impairment	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		199
HP:0000504	HP:0000613	Photophobia	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		199
HP:0000504	HP:0000613	Photophobia	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0000504	HP:0000505	Visual impairment	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		56
HP:0000504	HP:0000613	Photophobia	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome	HP:0040281 - Very frequent		56
HP:0000504	HP:0000505	Visual impairment	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0000504	HP:0000505	Visual impairment	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0000504	HP:0000505	Visual impairment	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0000504	HP:0000505	Visual impairment	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0000504	HP:0000505	Visual impairment	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0000504	HP:0000505	Visual impairment	1	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent		17
HP:0000504	HP:0000505	Visual impairment	1	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia	.		17
HP:0000504	HP:0000505	Visual impairment	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0000504	HP:0000505	Visual impairment	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0000504	HP:0000505	Visual impairment	1	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040282 - Frequent		24
HP:0000504	HP:0000505	Visual impairment	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0000504	HP:0000505	Visual impairment	1	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		34
HP:0000504	HP:0000505	Visual impairment	1	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma			16
HP:0000504	HP:0012508	Metamorphopsia	1	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional		16
HP:0000504	HP:0030786	Photopsia	1	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional		16
HP:0000504	HP:0000505	Visual impairment	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0000504	HP:0000505	Visual impairment	1	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma			7
HP:0000504	HP:0012508	Metamorphopsia	1	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional		7
HP:0000504	HP:0030786	Photopsia	1	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional		7
HP:0000504	HP:0000505	Visual impairment	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0000504	HP:0000505	Visual impairment	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0000504	HP:0000505	Visual impairment	1	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0000504	HP:0000551	Color vision defect	1	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare		39
HP:0000504	HP:0000662	Nyctalopia	1	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		39
HP:0000504	HP:0000505	Visual impairment	1	GNAT1 CL E G H	2779	4393	OMIM:610444	Night blindness, congenital stationary, autosomal dominant 3			39
HP:0000504	HP:0000662	Nyctalopia	1	GNAT1 CL E G H	2779	4393	OMIM:610444	Night blindness, congenital stationary, autosomal dominant 3			39
HP:0000504	HP:0000505	Visual impairment	1	GNAT1 CL E G H	2779	4393	OMIM:616389	Night blindness, congenital stationary, type 1G			39
HP:0000504	HP:0000662	Nyctalopia	1	GNAT1 CL E G H	2779	4393	OMIM:616389	Night blindness, congenital stationary, type 1G			39
HP:0000504	HP:0000505	Visual impairment	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0000504	HP:0000551	Color vision defect	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		19
HP:0000504	HP:0000613	Photophobia	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		19
HP:0000504	HP:0000505	Visual impairment	1	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4			19
HP:0000504	HP:0000551	Color vision defect	1	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4			19
HP:0000504	HP:0000613	Photophobia	1	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4			19
HP:0000504	HP:0000505	Visual impairment	1	GNAT2 CL E G H	2780	4394	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		19
HP:0000504	HP:0000551	Color vision defect	1	GNAT2 CL E G H	2780	4394	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		19
HP:0000504	HP:0000613	Photophobia	1	GNAT2 CL E G H	2780	4394	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		19
HP:0000504	HP:0000505	Visual impairment	1	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome			12
HP:0000504	HP:0000505	Visual impairment	1	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42			12
HP:0000504	HP:0000505	Visual impairment	1	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0000504	HP:0000551	Color vision defect	1	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare		5
HP:0000504	HP:0000662	Nyctalopia	1	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		5
HP:0000504	HP:0000613	Photophobia	1	GNB3 CL E G H	2784	4400	OMIM:617024	Night blindness, congenital stationary, type 1H	.		5
HP:0000504	HP:0000662	Nyctalopia	1	GNB3 CL E G H	2784	4400	OMIM:617024	Night blindness, congenital stationary, type 1H	.		5
HP:0000504	HP:0000505	Visual impairment	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000504	HP:0000662	Nyctalopia	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0000504	HP:0000505	Visual impairment	1	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0000504	HP:0000505	Visual impairment	1	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0000504	HP:0000505	Visual impairment	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0000504	HP:0000505	Visual impairment	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040284 - Very rare
HP:0000504	HP:0000505	Visual impairment	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0000504	HP:0000505	Visual impairment	1	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I	.		64
HP:0000504	HP:0000613	Photophobia	1	GPR143 CL E G H	4935	20145	OMIM:300500	Albinism, ocular, type I	.		64
HP:0000504	HP:0000505	Visual impairment	1	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked			64
HP:0000504	HP:0000505	Visual impairment	1	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040283 - Occasional		64
HP:0000504	HP:0000613	Photophobia	1	GPR143 CL E G H	4935	20145	ORPHA:54	X-linked recessive ocular albinism	HP:0040281 - Very frequent		64
HP:0000504	HP:0000505	Visual impairment	1	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0000504	HP:0000551	Color vision defect	1	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare		124
HP:0000504	HP:0000662	Nyctalopia	1	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		124
HP:0000504	HP:0000505	Visual impairment	1	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E	.		124
HP:0000504	HP:0000662	Nyctalopia	1	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E			124
HP:0000504	HP:0000505	Visual impairment	1	GRHL2 CL E G H	79977	2799	OMIM:618031	Corneal dystrophy, posterior polymorphous, 4			33
HP:0000504	HP:0000505	Visual impairment	1	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy			33
HP:0000504	HP:0000613	Photophobia	1	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		33
HP:0000504	HP:0000622	Blurred vision	1	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		33
HP:0000504	HP:0000505	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:0000504	HP:0000505	Visual impairment	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria			108
HP:0000504	HP:0000505	Visual impairment	1	GRIN1 CL E G H	2902	4584	OMIM:614254	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant			108
HP:0000504	HP:0000505	Visual impairment	1	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46			2
HP:0000504	HP:0000505	Visual impairment	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000504	HP:0000505	Visual impairment	1	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0000504	HP:0000551	Color vision defect	1	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare		4
HP:0000504	HP:0000662	Nyctalopia	1	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		4
HP:0000504	HP:0000505	Visual impairment	1	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease	HP:0040284 - Very rare		4
HP:0000504	HP:0000662	Nyctalopia	1	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0000504	HP:0011514	Abnormality of binocular vision	1	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease			4
HP:0000504	HP:0000662	Nyctalopia	1	GRK1 CL E G H	6011	10013	OMIM:613411	OGUCHI DISEASE 2			4
HP:0000504	HP:0000505	Visual impairment	1	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0000504	HP:0000551	Color vision defect	1	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare		63
HP:0000504	HP:0000662	Nyctalopia	1	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		63
HP:0000504	HP:0000662	Nyctalopia	1	GRM6 CL E G H	2916	4598	OMIM:257270	Night blindness, congenital stationary, type 1B	.		63
HP:0000504	HP:0012047	Hemeralopia	1	GRM6 CL E G H	2916	4598	OMIM:257270	Night blindness, congenital stationary, type 1B	.		63
HP:0000504	HP:0000505	Visual impairment	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0000504	HP:0000505	Visual impairment	1	GRN CL E G H	2896	4601	OMIM:614706	Ceroid lipofuscinosis, neuronal, 11	.		126
HP:0000504	HP:0000505	Visual impairment	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040282 - Frequent		53
HP:0000504	HP:0000613	Photophobia	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0000504	HP:0000613	Photophobia	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000504	HP:0000505	Visual impairment	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000504	HP:0000505	Visual impairment	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000504	HP:0000505	Visual impairment	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000504	HP:0000505	Visual impairment	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome	.
HP:0000504	HP:0000505	Visual impairment	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional		30
HP:0000504	HP:0000505	Visual impairment	1	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23	HP:0040283 - Occasional		30
HP:0000504	HP:0000505	Visual impairment	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		24
HP:0000504	HP:0000551	Color vision defect	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy			24
HP:0000504	HP:0000662	Nyctalopia	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040284 - Very rare		24
HP:0000504	HP:0000505	Visual impairment	1	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3			24
HP:0000504	HP:0000613	Photophobia	1	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3	.		24
HP:0000504	HP:0000505	Visual impairment	1	GUCA1A CL E G H	2978	4678	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		24
HP:0000504	HP:0000551	Color vision defect	1	GUCA1A CL E G H	2978	4678	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		24
HP:0000504	HP:0000613	Photophobia	1	GUCA1A CL E G H	2978	4678	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		24
HP:0000504	HP:0000662	Nyctalopia	1	GUCA1A CL E G H	2978	4678	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		24
HP:0000504	HP:0000505	Visual impairment	1	GUCA1A CL E G H	2978	4678	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		24
HP:0000504	HP:0000551	Color vision defect	1	GUCA1A CL E G H	2978	4678	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		24
HP:0000504	HP:0000613	Photophobia	1	GUCA1A CL E G H	2978	4678	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		24
HP:0000504	HP:0000505	Visual impairment	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0000504	HP:0000613	Photophobia	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0000504	HP:0000662	Nyctalopia	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0000504	HP:0000505	Visual impairment	1	GUCA1B CL E G H	2979	4679	OMIM:613827	RETINITIS PIGMENTOSA 48; RP48			36
HP:0000504	HP:0000505	Visual impairment	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		124
HP:0000504	HP:0000551	Color vision defect	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy			124
HP:0000504	HP:0000662	Nyctalopia	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040284 - Very rare		124
HP:0000504	HP:0000505	Visual impairment	1	GUCY2D CL E G H	3000	4689	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		124
HP:0000504	HP:0000551	Color vision defect	1	GUCY2D CL E G H	3000	4689	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		124
HP:0000504	HP:0000613	Photophobia	1	GUCY2D CL E G H	3000	4689	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		124
HP:0000504	HP:0000662	Nyctalopia	1	GUCY2D CL E G H	3000	4689	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		124
HP:0000504	HP:0000505	Visual impairment	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000504	HP:0000551	Color vision defect	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000504	HP:0000613	Photophobia	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.		124
HP:0000504	HP:0000662	Nyctalopia	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000504	HP:0012047	Hemeralopia	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.		124
HP:0000504	HP:0000505	Visual impairment	1	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis			124
HP:0000504	HP:0000505	Visual impairment	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0000504	HP:0000613	Photophobia	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0000504	HP:0000662	Nyctalopia	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0000504	HP:0000551	Color vision defect	1	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I			124
HP:0000504	HP:0000662	Nyctalopia	1	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I			124
HP:0000504	HP:0000505	Visual impairment	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0000504	HP:0000613	Photophobia	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0000504	HP:0000505	Visual impairment	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0000504	HP:0000505	Visual impairment	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000504	HP:0000505	Visual impairment	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000504	HP:0000505	Visual impairment	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000504	HP:0000505	Visual impairment	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0000504	HP:0000613	Photophobia	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent		99
HP:0000504	HP:0000662	Nyctalopia	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		99
HP:0000504	HP:0000505	Visual impairment	1	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000504	HP:0000662	Nyctalopia	1	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000504	HP:0000505	Visual impairment	1	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB	.
HP:0000504	HP:0000613	Photophobia	1	HARS1 CL E G H	3035	4816	OMIM:614504	Usher syndrome, type IIIB	.
HP:0000504	HP:0000505	Visual impairment	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0000504	HP:0000505	Visual impairment	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0000504	HP:0000505	Visual impairment	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0000504	HP:0000505	Visual impairment	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		21
HP:0000504	HP:0000551	Color vision defect	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		21
HP:0000504	HP:0000505	Visual impairment	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent		21
HP:0000504	HP:0000505	Visual impairment	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0000504	HP:0000505	Visual impairment	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0000504	HP:0000613	Photophobia	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0000504	HP:0000662	Nyctalopia	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0000504	HP:0000505	Visual impairment	1	HGSNAT CL E G H	138050	26527	OMIM:616544	Retinitis pigmentosa 73			86
HP:0000504	HP:0000662	Nyctalopia	1	HGSNAT CL E G H	138050	26527	OMIM:616544	Retinitis pigmentosa 73	.		86
HP:0000504	HP:0000505	Visual impairment	1	HIKESHI CL E G H	51501	26938	OMIM:616881	Leukodystrophy, hypomyelinating, 13	HP:0040283 - Occasional		3
HP:0000504	HP:0000505	Visual impairment	1	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000504	HP:0000505	Visual impairment	1	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79			11
HP:0000504	HP:0000613	Photophobia	1	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79	.		11
HP:0000504	HP:0000662	Nyctalopia	1	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79	.		11
HP:0000504	HP:0000505	Visual impairment	1	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92			2
HP:0000504	HP:0000662	Nyctalopia	1	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92			2
HP:0000504	HP:0000505	Visual impairment	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0000504	HP:0000613	Photophobia	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent		4
HP:0000504	HP:0000622	Blurred vision	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent		4
HP:0000504	HP:0100832	Vitreous floaters	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent		4
HP:0000504	HP:0000505	Visual impairment	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0000504	HP:0000613	Photophobia	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		4
HP:0000504	HP:0000505	Visual impairment	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		4
HP:0000504	HP:0100576	Amaurosis fugax	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0000504	HP:0011514	Abnormality of binocular vision	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0000504	HP:0000613	Photophobia	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040283 - Occasional		4
HP:0000504	HP:0000505	Visual impairment	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		4
HP:0000504	HP:0000613	Photophobia	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		4
HP:0000504	HP:0100576	Amaurosis fugax	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional		4
HP:0000504	HP:0000505	Visual impairment	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		1
HP:0000504	HP:0000505	Visual impairment	1	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0000504	HP:0011514	Abnormality of binocular vision	1	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to
HP:0000504	HP:0000505	Visual impairment	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		2
HP:0000504	HP:0100576	Amaurosis fugax	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0000504	HP:0011514	Abnormality of binocular vision	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0000504	HP:0011514	Abnormality of binocular vision	1	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to			2
HP:0000504	HP:0000505	Visual impairment	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0000504	HP:0000613	Photophobia	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.		2
HP:0000504	HP:0000622	Blurred vision	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.		2
HP:0000504	HP:0000505	Visual impairment	1	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1			262
HP:0000504	HP:0000505	Visual impairment	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000504	HP:0000505	Visual impairment	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000504	HP:0000505	Visual impairment	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0000504	HP:0000613	Photophobia	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0000504	HP:0000505	Visual impairment	1	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000504	HP:0000505	Visual impairment	1	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4			123
HP:0000504	HP:0000505	Visual impairment	1	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5			105
HP:0000504	HP:0000505	Visual impairment	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0000504	HP:0000613	Photophobia	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	HP:0040284 - Very rare		45
HP:0000504	HP:0000505	Visual impairment	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		8
HP:0000504	HP:0000551	Color vision defect	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		8
HP:0000504	HP:0000505	Visual impairment	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0000504	HP:0000505	Visual impairment	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0000504	HP:0000505	Visual impairment	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000504	HP:0000662	Nyctalopia	1	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040283 - Occasional		26
HP:0000504	HP:0000505	Visual impairment	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0000504	HP:0000505	Visual impairment	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent		345
HP:0000504	HP:0000551	Color vision defect	1	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		39
HP:0000504	HP:0011514	Abnormality of binocular vision	1	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease			39
HP:0000504	HP:0000505	Visual impairment	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent		16
HP:0000504	HP:0000505	Visual impairment	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0000504	HP:0000505	Visual impairment	1	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.		16
HP:0000504	HP:0000505	Visual impairment	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000613	Photophobia	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000662	Nyctalopia	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0000504	HP:0000505	Visual impairment	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0000504	HP:0000662	Nyctalopia	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0000504	HP:0000505	Visual impairment	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000504	HP:0000613	Photophobia	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000504	HP:0000662	Nyctalopia	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0000504	HP:0000505	Visual impairment	1	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0000504	HP:0000505	Visual impairment	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent		86
HP:0000504	HP:0000662	Nyctalopia	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0000504	HP:0000505	Visual impairment	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent		86
HP:0000504	HP:0000662	Nyctalopia	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0000504	HP:0000505	Visual impairment	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0000504	HP:0000613	Photophobia	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		60
HP:0000504	HP:0000505	Visual impairment	1	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis			148
HP:0000504	HP:0000505	Visual impairment	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0000504	HP:0000613	Photophobia	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0000504	HP:0000662	Nyctalopia	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0000504	HP:0000505	Visual impairment	1	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0000504	HP:0000662	Nyctalopia	1	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0000504	HP:0000505	Visual impairment	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000504	HP:0000505	Visual impairment	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0000504	HP:0000662	Nyctalopia	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0000504	HP:0012047	Hemeralopia	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0000504	HP:0000505	Visual impairment	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000504	HP:0000613	Photophobia	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000504	HP:0000662	Nyctalopia	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0000504	HP:0000662	Nyctalopia	1	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71			48
HP:0000504	HP:0000662	Nyctalopia	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional		48
HP:0000504	HP:0000505	Visual impairment	1	IFT74 CL E G H	80173	21424	OMIM:617119	BARDET-BIEDL SYNDROME 20; BBS20			3
HP:0000504	HP:0000505	Visual impairment	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000504	HP:0000613	Photophobia	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000504	HP:0000662	Nyctalopia	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0000504	HP:0000505	Visual impairment	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0000504	HP:0000505	Visual impairment	1	IGH CL E G H	3492	5477	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		7
HP:0000504	HP:0000505	Visual impairment	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent		52
HP:0000504	HP:0000505	Visual impairment	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		8
HP:0000504	HP:0000613	Photophobia	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		8
HP:0000504	HP:0000505	Visual impairment	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0000504	HP:0000613	Photophobia	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		2
HP:0000504	HP:0000505	Visual impairment	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0000504	HP:0000613	Photophobia	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0000504	HP:0000505	Visual impairment	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0000504	HP:0000613	Photophobia	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0000504	HP:0100576	Amaurosis fugax	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional		31
HP:0000504	HP:0000505	Visual impairment	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000504	HP:0000551	Color vision defect	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000504	HP:0000505	Visual impairment	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0000504	HP:0000613	Photophobia	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		1
HP:0000504	HP:0000505	Visual impairment	1	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			65
HP:0000504	HP:0000505	Visual impairment	1	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0000504	HP:0000505	Visual impairment	1	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis			52
HP:0000504	HP:0000505	Visual impairment	1	IMPDH1 CL E G H	3614	6052	OMIM:613837	Leber congenital amaurosis 11			52
HP:0000504	HP:0000505	Visual impairment	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0000504	HP:0000613	Photophobia	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0000504	HP:0000662	Nyctalopia	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0000504	HP:0000505	Visual impairment	1	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10			52
HP:0000504	HP:0000662	Nyctalopia	1	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	.		52
HP:0000504	HP:0000505	Visual impairment	1	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent		4
HP:0000504	HP:0000551	Color vision defect	1	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		4
HP:0000504	HP:0000551	Color vision defect	1	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular			4
HP:0000504	HP:0000505	Visual impairment	1	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4			4
HP:0000504	HP:0000505	Visual impairment	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000504	HP:0000613	Photophobia	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000504	HP:0000662	Nyctalopia	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0000504	HP:0000505	Visual impairment	1	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent		120
HP:0000504	HP:0000551	Color vision defect	1	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		120
HP:0000504	HP:0000505	Visual impairment	1	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5			120
HP:0000504	HP:0000505	Visual impairment	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0000504	HP:0000613	Photophobia	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0000504	HP:0000662	Nyctalopia	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0000504	HP:0000505	Visual impairment	1	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56			120
HP:0000504	HP:0000662	Nyctalopia	1	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56			120
HP:0000504	HP:0000505	Visual impairment	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		111
HP:0000504	HP:0000505	Visual impairment	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0000504	HP:0000505	Visual impairment	1	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	.		111
HP:0000504	HP:0000505	Visual impairment	1	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040281 - Very frequent		111
HP:0000504	HP:0000662	Nyctalopia	1	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome			111
HP:0000504	HP:0000505	Visual impairment	1	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		106
HP:0000504	HP:0000505	Visual impairment	1	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis			61
HP:0000504	HP:0000505	Visual impairment	1	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		61
HP:0000504	HP:0000505	Visual impairment	1	IQSEC1 CL E G H	9922	29112	OMIM:618687	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0000504	HP:0000505	Visual impairment	1	ISCA2 CL E G H	122961	19857	OMIM:616370	Multiple mitochondrial dysfunctions syndrome 4	.		7
HP:0000504	HP:0000505	Visual impairment	1	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0000504	HP:0000505	Visual impairment	1	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0000504	HP:0000505	Visual impairment	1	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0000504	HP:0000613	Photophobia	1	ITGB6 CL E G H	3694	6161	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent		8
HP:0000504	HP:0000505	Visual impairment	1	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities			3
HP:0000504	HP:0000613	Photophobia	1	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities	.		3
HP:0000504	HP:0000662	Nyctalopia	1	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities	HP:0040283 - Occasional		3
HP:0000504	HP:0000505	Visual impairment	1	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome	.		177
HP:0000504	HP:0100576	Amaurosis fugax	1	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		57
HP:0000504	HP:0000505	Visual impairment	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0000504	HP:0000505	Visual impairment	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent		283
HP:0000504	HP:0000505	Visual impairment	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent		283
HP:0000504	HP:0000505	Visual impairment	1	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000504	HP:0000505	Visual impairment	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000504	HP:0000505	Visual impairment	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0000504	HP:0000622	Blurred vision	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040282 - Frequent		145
HP:0000504	HP:0011514	Abnormality of binocular vision	1	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1			145
HP:0000504	HP:0000622	Blurred vision	1	KCNA1 CL E G H	3736	6218	OMIM:160120	Episodic ataxia, type 1	.		145
HP:0000504	HP:0000505	Visual impairment	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0000504	HP:0011514	Abnormality of binocular vision	1	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22			35
HP:0000504	HP:0000505	Visual impairment	1	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis			42
HP:0000504	HP:0000505	Visual impairment	1	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16	.		42
HP:0000504	HP:0000613	Photophobia	1	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16	.		42
HP:0000504	HP:0000662	Nyctalopia	1	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16	.		42
HP:0000504	HP:0000505	Visual impairment	1	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000504	HP:0000505	Visual impairment	1	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B			73
HP:0000504	HP:0000613	Photophobia	1	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B	.		73
HP:0000504	HP:0000662	Nyctalopia	1	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B	.		73
HP:0000504	HP:0000505	Visual impairment	1	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions			106
HP:0000504	HP:0000505	Visual impairment	1	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2			8
HP:0000504	HP:0000505	Visual impairment	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0000504	HP:0000505	Visual impairment	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000613	Photophobia	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000662	Nyctalopia	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0000504	HP:0000505	Visual impairment	1	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0000504	HP:0000662	Nyctalopia	1	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0000504	HP:0000505	Visual impairment	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000504	HP:0000505	Visual impairment	1	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation			46
HP:0000504	HP:0000505	Visual impairment	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0000504	HP:0000505	Visual impairment	1	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0000504	HP:0000505	Visual impairment	1	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9			276
HP:0000504	HP:0000505	Visual impairment	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0000504	HP:0000505	Visual impairment	1	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58			38
HP:0000504	HP:0000505	Visual impairment	1	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0000504	HP:0000662	Nyctalopia	1	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0000504	HP:0000505	Visual impairment	1	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal			93
HP:0000504	HP:0000505	Visual impairment	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000504	HP:0000613	Photophobia	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000504	HP:0000662	Nyctalopia	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0000504	HP:0000505	Visual impairment	1	KIZ CL E G H	55857	15865	OMIM:615780	Retinitis pigmentosa 69			3
HP:0000504	HP:0000505	Visual impairment	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0000504	HP:0000613	Photophobia	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0000504	HP:0000662	Nyctalopia	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0000504	HP:0000505	Visual impairment	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0000504	HP:0000613	Photophobia	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0000504	HP:0000505	Visual impairment	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000504	HP:0000505	Visual impairment	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0000504	HP:0100576	Amaurosis fugax	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0000504	HP:0000505	Visual impairment	1	KRT12 CL E G H	3859	6414	OMIM:122100	Meesmann corneal dystrophy 1			22
HP:0000504	HP:0000613	Photophobia	1	KRT12 CL E G H	3859	6414	OMIM:122100	Meesmann corneal dystrophy 1	.		22
HP:0000504	HP:0000613	Photophobia	1	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		110
HP:0000504	HP:0000613	Photophobia	1	KRT3 CL E G H	3850	6440	OMIM:618767	CORNEAL DYSTROPHY, MEESMANN, 2; MECD2			3
HP:0000504	HP:0000613	Photophobia	1	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional		173
HP:0000504	HP:0000505	Visual impairment	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0000504	HP:0000505	Visual impairment	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0000504	HP:0000505	Visual impairment	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000504	HP:0000505	Visual impairment	1	LAMC3 CL E G H	10319	6494	OMIM:614115	Cortical malformations, occipital			114
HP:0000504	HP:0000505	Visual impairment	1	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.		211
HP:0000504	HP:0000505	Visual impairment	1	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		136
HP:0000504	HP:0000505	Visual impairment	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000504	HP:0000505	Visual impairment	1	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis			70
HP:0000504	HP:0000505	Visual impairment	1	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5			70
HP:0000504	HP:0000505	Visual impairment	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		70
HP:0000504	HP:0000551	Color vision defect	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		70
HP:0000504	HP:0000613	Photophobia	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		70
HP:0000504	HP:0000622	Blurred vision	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		70
HP:0000504	HP:0000662	Nyctalopia	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		70
HP:0000504	HP:0000505	Visual impairment	1	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease	HP:0040283 - Occasional		26
HP:0000504	HP:0000505	Visual impairment	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional		68
HP:0000504	HP:0000505	Visual impairment	1	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0000504	HP:0000505	Visual impairment	1	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types			16
HP:0000504	HP:0000505	Visual impairment	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000504	HP:0000505	Visual impairment	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0000504	HP:0000505	Visual impairment	1	LOC111365204 CL E G H	111365204		OMIM:600790	Chorioretinal atrophy, progressive bifocal	.
HP:0000504	HP:0000505	Visual impairment	1	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type
HP:0000504	HP:0000505	Visual impairment	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0000504	HP:0000505	Visual impairment	1	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0000504	HP:0000505	Visual impairment	1	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis			62
HP:0000504	HP:0000505	Visual impairment	1	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14			62
HP:0000504	HP:0000613	Photophobia	1	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0000504	HP:0000662	Nyctalopia	1	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0000504	HP:0000505	Visual impairment	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0000504	HP:0000505	Visual impairment	1	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa			62
HP:0000504	HP:0000613	Photophobia	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0000504	HP:0000662	Nyctalopia	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0000504	HP:0000662	Nyctalopia	1	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa	.		62
HP:0000504	HP:0000505	Visual impairment	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		62
HP:0000504	HP:0000551	Color vision defect	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		62
HP:0000504	HP:0000613	Photophobia	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		62
HP:0000504	HP:0000622	Blurred vision	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		62
HP:0000504	HP:0000662	Nyctalopia	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		62
HP:0000504	HP:0000505	Visual impairment	1	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0000504	HP:0000551	Color vision defect	1	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare		54
HP:0000504	HP:0000662	Nyctalopia	1	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		54
HP:0000504	HP:0000662	Nyctalopia	1	LRIT3 CL E G H	345193	24783	OMIM:615058	Night blindness, congenital stationary, type 1F			54
HP:0000504	HP:0000613	Photophobia	1	LRMDA CL E G H	83938	23405	OMIM:615179	Albinism, oculocutaneous, type V	.		13
HP:0000504	HP:0000505	Visual impairment	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000504	HP:0000505	Visual impairment	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000504	HP:0011514	Abnormality of binocular vision	1	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			124
HP:0000504	HP:0000505	Visual impairment	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1			125
HP:0000504	HP:0100832	Vitreous floaters	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1			125
HP:0000504	HP:0000505	Visual impairment	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0000504	HP:0000505	Visual impairment	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0000504	HP:0100832	Vitreous floaters	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0000504	HP:0000505	Visual impairment	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0000504	HP:0000505	Visual impairment	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0000504	HP:0000505	Visual impairment	1	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0040283 - Occasional		125
HP:0000504	HP:0000505	Visual impairment	1	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity			125
HP:0000504	HP:0000505	Visual impairment	1	LRPAP1 CL E G H	4043	6701	OMIM:615431	Myopia 23, autosomal recessive			4
HP:0000504	HP:0011514	Abnormality of binocular vision	1	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease			221
HP:0000504	HP:0000551	Color vision defect	1	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		221
HP:0000504	HP:0011514	Abnormality of binocular vision	1	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease			221
HP:0000504	HP:0000613	Photophobia	1	LSS CL E G H	4047	6708	ORPHA:2850	Alopecia-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0000504	HP:0000505	Visual impairment	1	LSS CL E G H	4047	6708	OMIM:616509	Cataract 44			2
HP:0000504	HP:0000505	Visual impairment	1	LTBP2 CL E G H	4053	6715	ORPHA:98976	Congenital glaucoma			123
HP:0000504	HP:0000613	Photophobia	1	LTBP2 CL E G H	4053	6715	OMIM:613086	Glaucoma 3, primary congenital, D	.		123
HP:0000504	HP:0000505	Visual impairment	1	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0000504	HP:0000505	Visual impairment	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0000504	HP:0000505	Visual impairment	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0000504	HP:0000613	Photophobia	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent		239
HP:0000504	HP:0000505	Visual impairment	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000504	HP:0000613	Photophobia	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.		239
HP:0000504	HP:0000505	Visual impairment	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0000504	HP:0000505	Visual impairment	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0000504	HP:0000505	Visual impairment	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0000504	HP:0000505	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:0000504	HP:0000505	Visual impairment	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0000504	HP:0000505	Visual impairment	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0000504	HP:0000505	Visual impairment	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000504	HP:0000505	Visual impairment	1	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive			4
HP:0000504	HP:0000505	Visual impairment	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0000504	HP:0000613	Photophobia	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0000504	HP:0000662	Nyctalopia	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0000504	HP:0000505	Visual impairment	1	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62			53
HP:0000504	HP:0000662	Nyctalopia	1	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62	.		53
HP:0000504	HP:0000505	Visual impairment	1	MALT1 CL E G H	10892	6819	ORPHA:52417	MALT lymphoma	HP:0040283 - Occasional		6
HP:0000504	HP:0000505	Visual impairment	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0000504	HP:0000505	Visual impairment	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000504	HP:0000505	Visual impairment	1	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3			1
HP:0000504	HP:0000613	Photophobia	1	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent		140
HP:0000504	HP:0000622	Blurred vision	1	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent		140
HP:0000504	HP:0000613	Photophobia	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.		140
HP:0000504	HP:0000622	Blurred vision	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.		140
HP:0000504	HP:0011514	Abnormality of binocular vision	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1			140
HP:0000504	HP:0100576	Amaurosis fugax	1	MARCHF6 CL E G H	10299	30550	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	MARK3 CL E G H	4140	6897	OMIM:618283	Visual impairment and progressive phthisis bulbi
HP:0000504	HP:0000505	Visual impairment	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.		252
HP:0000504	HP:0000613	Photophobia	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040281 - Very frequent		22
HP:0000504	HP:0000613	Photophobia	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0000504	HP:0000613	Photophobia	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.		22
HP:0000504	HP:0000505	Visual impairment	1	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.		124
HP:0000504	HP:0000505	Visual impairment	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2			124
HP:0000504	HP:0000613	Photophobia	1	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		124
HP:0000504	HP:0000505	Visual impairment	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV			78
HP:0000504	HP:0000613	Photophobia	1	MCOLN1 CL E G H	57192	13356	OMIM:252650	Mucolipidosis IV	.		78
HP:0000504	HP:0000613	Photophobia	1	MCOLN1 CL E G H	57192	13356	ORPHA:578	Mucolipidosis type IV	HP:0040281 - Very frequent		78
HP:0000504	HP:0000505	Visual impairment	1	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities	.		6
HP:0000504	HP:0000505	Visual impairment	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0000504	HP:0000505	Visual impairment	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000504	HP:0000505	Visual impairment	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0000504	HP:0000613	Photophobia	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		281
HP:0000504	HP:0000505	Visual impairment	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000504	HP:0011514	Abnormality of binocular vision	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000504	HP:0000505	Visual impairment	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0000504	HP:0000613	Photophobia	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0000504	HP:0000662	Nyctalopia	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0000504	HP:0000505	Visual impairment	1	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38			75
HP:0000504	HP:0000662	Nyctalopia	1	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38	.		75
HP:0000504	HP:0000505	Visual impairment	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000504	HP:0000505	Visual impairment	1	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	.		17
HP:0000504	HP:0000505	Visual impairment	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent		17
HP:0000504	HP:0000662	Nyctalopia	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040284 - Very rare		203
HP:0000504	HP:0000505	Visual impairment	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000504	HP:0000551	Color vision defect	1	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0000504	HP:0000505	Visual impairment	1	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.		26
HP:0000504	HP:0000613	Photophobia	1	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	HP:0040283 - Occasional		26
HP:0000504	HP:0000662	Nyctalopia	1	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.		26
HP:0000504	HP:0000505	Visual impairment	1	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7			120
HP:0000504	HP:0000505	Visual impairment	1	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement	.		120
HP:0000504	HP:0000505	Visual impairment	1	MICOS13 CL E G H	125988	33702	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040281 - Very frequent
HP:0000504	HP:0000505	Visual impairment	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000504	HP:0000505	Visual impairment	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0000504	HP:0000505	Visual impairment	1	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome	.		1
HP:0000504	HP:0000505	Visual impairment	1	MIR204 CL E G H	406987	31582	OMIM:616722	Retinal dystrophy and iris coloboma with or without congenital cataract			1
HP:0000504	HP:0000505	Visual impairment	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0000504	HP:0000505	Visual impairment	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0000504	HP:0100576	Amaurosis fugax	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0000504	HP:0000505	Visual impairment	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0000504	HP:0100576	Amaurosis fugax	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0000504	HP:0100576	Amaurosis fugax	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0000504	HP:0000505	Visual impairment	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000504	HP:0000505	Visual impairment	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040282 - Frequent		101
HP:0000504	HP:0000505	Visual impairment	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0000504	HP:0000505	Visual impairment	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0000504	HP:0000505	Visual impairment	1	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies			2
HP:0000504	HP:0000662	Nyctalopia	1	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies	HP:0040283 - Occasional		2
HP:0000504	HP:0000505	Visual impairment	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000504	HP:0000551	Color vision defect	1	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z			8
HP:0000504	HP:0100576	Amaurosis fugax	1	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		97
HP:0000504	HP:0000505	Visual impairment	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0000504	HP:0000613	Photophobia	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0000504	HP:0000505	Visual impairment	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0000504	HP:0100576	Amaurosis fugax	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0000504	HP:0000505	Visual impairment	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0000504	HP:0100576	Amaurosis fugax	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0000504	HP:0000505	Visual impairment	1	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2			45
HP:0000504	HP:0000505	Visual impairment	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional		29
HP:0000504	HP:0000505	Visual impairment	1	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination
HP:0000504	HP:0000505	Visual impairment	1	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly			68
HP:0000504	HP:0000505	Visual impairment	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0000504	HP:0000505	Visual impairment	1	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55
HP:0000504	HP:0000505	Visual impairment	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040281 - Very frequent
HP:0000504	HP:0000551	Color vision defect	1	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7
HP:0000504	HP:0000505	Visual impairment	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7	.
HP:0000504	HP:0000505	Visual impairment	1	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0000504	HP:0000505	Visual impairment	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0000504	HP:0000505	Visual impairment	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional		88
HP:0000504	HP:0000505	Visual impairment	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0000504	HP:0000551	Color vision defect	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent		81
HP:0000504	HP:0000662	Nyctalopia	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent		81
HP:0000504	HP:0011514	Abnormality of binocular vision	1	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			72
HP:0000504	HP:0000662	Nyctalopia	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0000504	HP:0011514	Abnormality of binocular vision	1	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1			35
HP:0000504	HP:0000662	Nyctalopia	1	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37			179
HP:0000504	HP:0000505	Visual impairment	1	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000504	HP:0000662	Nyctalopia	1	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0000504	HP:0000505	Visual impairment	1	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000504	HP:0000662	Nyctalopia	1	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		516
HP:0000504	HP:0000505	Visual impairment	1	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I			516
HP:0000504	HP:0011514	Abnormality of binocular vision	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0000504	HP:0000505	Visual impairment	1	MYOC CL E G H	4653	7610	ORPHA:98976	Congenital glaucoma			47
HP:0000504	HP:0000505	Visual impairment	1	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		47
HP:0000504	HP:0000505	Visual impairment	1	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040283 - Occasional		23
HP:0000504	HP:0000505	Visual impairment	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000504	HP:0011514	Abnormality of binocular vision	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0000504	HP:0000505	Visual impairment	1	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency			14
HP:0000504	HP:0000505	Visual impairment	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0000504	HP:0000505	Visual impairment	1	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0000504	HP:0000505	Visual impairment	1	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0000504	HP:0000505	Visual impairment	1	NAPB CL E G H	63908	15751	OMIM:620033				2
HP:0000504	HP:0000505	Visual impairment	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0000504	HP:0000505	Visual impairment	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0000504	HP:0000551	Color vision defect	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0000504	HP:0000505	Visual impairment	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0000504	HP:0000505	Visual impairment	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0000504	HP:0000505	Visual impairment	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0000504	HP:0000505	Visual impairment	1	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000622	Blurred vision	1	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000505	Visual impairment	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0000504	HP:0000505	Visual impairment	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0000504	HP:0000505	Visual impairment	1	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000622	Blurred vision	1	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000505	Visual impairment	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0000504	HP:0000505	Visual impairment	1	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000622	Blurred vision	1	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000505	Visual impairment	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0000504	HP:0000505	Visual impairment	1	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000622	Blurred vision	1	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000505	Visual impairment	1	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000622	Blurred vision	1	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000505	Visual impairment	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0000504	HP:0000505	Visual impairment	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000622	Blurred vision	1	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000505	Visual impairment	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0000504	HP:0000505	Visual impairment	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000504	HP:0000505	Visual impairment	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000504	HP:0000551	Color vision defect	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked			39
HP:0000504	HP:0000505	Visual impairment	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000504	HP:0100832	Vitreous floaters	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000504	HP:0000505	Visual impairment	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000504	HP:0000505	Visual impairment	1	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000504	HP:0000505	Visual impairment	1	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000504	HP:0000505	Visual impairment	1	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity			39
HP:0000504	HP:0000505	Visual impairment	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0000504	HP:0000505	Visual impairment	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0000504	HP:0000505	Visual impairment	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0000504	HP:0000505	Visual impairment	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0000504	HP:0000505	Visual impairment	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0000504	HP:0000505	Visual impairment	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0000504	HP:0000505	Visual impairment	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		31
HP:0000504	HP:0000505	Visual impairment	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0000504	HP:0000505	Visual impairment	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0000504	HP:0000505	Visual impairment	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0000504	HP:0000505	Visual impairment	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0000504	HP:0000505	Visual impairment	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0000504	HP:0000505	Visual impairment	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0000504	HP:0000505	Visual impairment	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0000504	HP:0000505	Visual impairment	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0000504	HP:0000505	Visual impairment	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0000504	HP:0000505	Visual impairment	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0000504	HP:0000505	Visual impairment	1	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy			65
HP:0000504	HP:0000622	Blurred vision	1	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent		65
HP:0000504	HP:0000505	Visual impairment	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		65
HP:0000504	HP:0000505	Visual impairment	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0000504	HP:0000505	Visual impairment	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0000504	HP:0000505	Visual impairment	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0000504	HP:0000505	Visual impairment	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0000504	HP:0000505	Visual impairment	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0000504	HP:0000505	Visual impairment	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0000504	HP:0000505	Visual impairment	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0000504	HP:0000505	Visual impairment	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0000504	HP:0000505	Visual impairment	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0000504	HP:0000505	Visual impairment	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000504	HP:0000613	Photophobia	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000504	HP:0000662	Nyctalopia	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0000504	HP:0000505	Visual impairment	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0000504	HP:0000505	Visual impairment	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0000504	HP:0000505	Visual impairment	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0000504	HP:0000505	Visual impairment	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0000504	HP:0000505	Visual impairment	1	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0000504	HP:0000505	Visual impairment	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000504	HP:0000505	Visual impairment	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000504	HP:0000505	Visual impairment	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0000504	HP:0011514	Abnormality of binocular vision	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0000504	HP:0000505	Visual impairment	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000504	HP:0011514	Abnormality of binocular vision	1	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome			11
HP:0000504	HP:0000505	Visual impairment	1	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora			77
HP:0000504	HP:0000505	Visual impairment	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0000504	HP:0000505	Visual impairment	1	NHS CL E G H	4810	7820	OMIM:302200	Cataract, congenital total, with posterior sutural opacities in heterozygotes			88
HP:0000504	HP:0000505	Visual impairment	1	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome			88
HP:0000504	HP:0000505	Visual impairment	1	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040281 - Very frequent		88
HP:0000504	HP:0000613	Photophobia	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0000504	HP:0000505	Visual impairment	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent		217
HP:0000504	HP:0000613	Photophobia	1	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria	.		217
HP:0000504	HP:0000622	Blurred vision	1	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria	.		217
HP:0000504	HP:0000505	Visual impairment	1	NMNAT1 CL E G H	64802	17877	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		15
HP:0000504	HP:0000551	Color vision defect	1	NMNAT1 CL E G H	64802	17877	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		15
HP:0000504	HP:0000613	Photophobia	1	NMNAT1 CL E G H	64802	17877	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		15
HP:0000504	HP:0000662	Nyctalopia	1	NMNAT1 CL E G H	64802	17877	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		15
HP:0000504	HP:0000505	Visual impairment	1	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis			15
HP:0000504	HP:0000505	Visual impairment	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000504	HP:0000551	Color vision defect	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000504	HP:0000613	Photophobia	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9	HP:0040283 - Occasional		15
HP:0000504	HP:0000662	Nyctalopia	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9	HP:0040283 - Occasional		15
HP:0000504	HP:0000505	Visual impairment	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0000504	HP:0000505	Visual impairment	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0000504	HP:0000613	Photophobia	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040282 - Frequent		187
HP:0000504	HP:0000505	Visual impairment	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0000504	HP:0000505	Visual impairment	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0000504	HP:0000505	Visual impairment	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0000504	HP:0000505	Visual impairment	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0000504	HP:0000505	Visual impairment	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000504	HP:0000622	Blurred vision	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040282 - Frequent		9
HP:0000504	HP:0011514	Abnormality of binocular vision	1	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36			9
HP:0000504	HP:0000613	Photophobia	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0000504	HP:0000505	Visual impairment	1	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy			144
HP:0000504	HP:0000505	Visual impairment	1	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		85
HP:0000504	HP:0000505	Visual impairment	1	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		157
HP:0000504	HP:0000505	Visual impairment	1	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		220
HP:0000504	HP:0000505	Visual impairment	1	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4			220
HP:0000504	HP:0000662	Nyctalopia	1	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome	.		58
HP:0000504	HP:0012047	Hemeralopia	1	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome	.		58
HP:0000504	HP:0000505	Visual impairment	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0000504	HP:0000613	Photophobia	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0000504	HP:0000662	Nyctalopia	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0000504	HP:0000551	Color vision defect	1	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37			58
HP:0000504	HP:0000613	Photophobia	1	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.		58
HP:0000504	HP:0000662	Nyctalopia	1	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.		58
HP:0000504	HP:0000505	Visual impairment	1	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0000504	HP:0000505	Visual impairment	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome			37
HP:0000504	HP:0000505	Visual impairment	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040283 - Occasional		79
HP:0000504	HP:0000505	Visual impairment	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000504	HP:0000613	Photophobia	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000504	HP:0000662	Nyctalopia	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0000504	HP:0000505	Visual impairment	1	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.		30
HP:0000504	HP:0000662	Nyctalopia	1	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.		30
HP:0000504	HP:0000505	Visual impairment	1	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0000504	HP:0000505	Visual impairment	1	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58			8
HP:0000504	HP:0000505	Visual impairment	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0000504	HP:0000505	Visual impairment	1	NUS1 CL E G H	116150	21042	OMIM:617082	Congenital disorder of glycosylation, type IAA	.		1
HP:0000504	HP:0000505	Visual impairment	1	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0000504	HP:0000551	Color vision defect	1	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare		42
HP:0000504	HP:0000662	Nyctalopia	1	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		42
HP:0000504	HP:0000662	Nyctalopia	1	NYX CL E G H	60506	8082	OMIM:310500	Night blindness, congenital stationary, type 1A			42
HP:0000504	HP:0012047	Hemeralopia	1	NYX CL E G H	60506	8082	OMIM:310500	Night blindness, congenital stationary, type 1A	.		42
HP:0000504	HP:0000505	Visual impairment	1	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000504	HP:0000662	Nyctalopia	1	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000504	HP:0000505	Visual impairment	1	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency			94
HP:0000504	HP:0000662	Nyctalopia	1	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency	.		94
HP:0000504	HP:0000505	Visual impairment	1	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.		121
HP:0000504	HP:0000505	Visual impairment	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2			121
HP:0000504	HP:0000613	Photophobia	1	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		121
HP:0000504	HP:0000505	Visual impairment	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0000504	HP:0000505	Visual impairment	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000504	HP:0000505	Visual impairment	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0000504	HP:0000613	Photophobia	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0000504	HP:0000662	Nyctalopia	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0000504	HP:0000505	Visual impairment	1	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000504	HP:0000551	Color vision defect	1	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23	.		201
HP:0000504	HP:0000613	Photophobia	1	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000504	HP:0000505	Visual impairment	1	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN			3
HP:0000504	HP:0000505	Visual impairment	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000504	HP:0000505	Visual impairment	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000504	HP:0000505	Visual impairment	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040281 - Very frequent		214
HP:0000504	HP:0000551	Color vision defect	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		214
HP:0000504	HP:0000505	Visual impairment	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0000504	HP:0000505	Visual impairment	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.		214
HP:0000504	HP:0000551	Color vision defect	1	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000504	HP:0000505	Visual impairment	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000504	HP:0000551	Color vision defect	1	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000504	HP:0000505	Visual impairment	1	OPA3 CL E G H	80207	8142	ORPHA:67047	3-methylglutaconic aciduria type 3	HP:0040281 - Very frequent		163
HP:0000504	HP:0000505	Visual impairment	1	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III	.		163
HP:0000504	HP:0000505	Visual impairment	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040280 - Obligate		163
HP:0000504	HP:0000551	Color vision defect	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0000504	HP:0000505	Visual impairment	1	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3			163
HP:0000504	HP:0000505	Visual impairment	1	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	.		7
HP:0000504	HP:0000551	Color vision defect	1	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy			7
HP:0000504	HP:0000613	Photophobia	1	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	.		7
HP:0000504	HP:0000505	Visual impairment	1	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism	HP:0040283 - Occasional		7
HP:0000504	HP:0000551	Color vision defect	1	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism			7
HP:0000504	HP:0000613	Photophobia	1	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism	HP:0040283 - Occasional		7
HP:0000504	HP:0000551	Color vision defect	1	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series			7
HP:0000504	HP:0000505	Visual impairment	1	OPN1LW CL E G H	5956	9936	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		7
HP:0000504	HP:0000551	Color vision defect	1	OPN1LW CL E G H	5956	9936	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		7
HP:0000504	HP:0000613	Photophobia	1	OPN1LW CL E G H	5956	9936	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		7
HP:0000504	HP:0000662	Nyctalopia	1	OPN1LW CL E G H	5956	9936	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		7
HP:0000504	HP:0000505	Visual impairment	1	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	.		5
HP:0000504	HP:0000551	Color vision defect	1	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy			5
HP:0000504	HP:0000613	Photophobia	1	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	.		5
HP:0000504	HP:0000505	Visual impairment	1	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism	HP:0040283 - Occasional		5
HP:0000504	HP:0000551	Color vision defect	1	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism			5
HP:0000504	HP:0000613	Photophobia	1	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism	HP:0040283 - Occasional		5
HP:0000504	HP:0000551	Color vision defect	1	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series			5
HP:0000504	HP:0000505	Visual impairment	1	OPN1MW CL E G H	2652	4206	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		5
HP:0000504	HP:0000551	Color vision defect	1	OPN1MW CL E G H	2652	4206	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		5
HP:0000504	HP:0000613	Photophobia	1	OPN1MW CL E G H	2652	4206	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		5
HP:0000504	HP:0000662	Nyctalopia	1	OPN1MW CL E G H	2652	4206	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		5
HP:0000504	HP:0000505	Visual impairment	1	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia			3
HP:0000504	HP:0000551	Color vision defect	1	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA			3
HP:0000504	HP:0000551	Color vision defect	1	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia			3
HP:0000504	HP:0000613	Photophobia	1	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia	HP:0040283 - Occasional		3
HP:0000504	HP:0000505	Visual impairment	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0000504	HP:0000505	Visual impairment	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0000504	HP:0000505	Visual impairment	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent		41
HP:0000504	HP:0000613	Photophobia	1	OVOL2 CL E G H	58495	15804	OMIM:122000	Corneal dystrophy, posterior polymorphous, 1			4
HP:0000504	HP:0000505	Visual impairment	1	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy			4
HP:0000504	HP:0000613	Photophobia	1	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		4
HP:0000504	HP:0000622	Blurred vision	1	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		4
HP:0000504	HP:0000505	Visual impairment	1	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration			5
HP:0000504	HP:0100832	Vitreous floaters	1	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration			5
HP:0000504	HP:0000505	Visual impairment	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		3
HP:0000504	HP:0100576	Amaurosis fugax	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000504	HP:0011514	Abnormality of binocular vision	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0000504	HP:0000505	Visual impairment	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000504	HP:0100832	Vitreous floaters	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0000504	HP:0000505	Visual impairment	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0000504	HP:0000505	Visual impairment	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0000504	HP:0000505	Visual impairment	1	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration			55
HP:0000504	HP:0000505	Visual impairment	1	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0000504	HP:0000505	Visual impairment	1	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0000504	HP:0000551	Color vision defect	1	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		23
HP:0000504	HP:0011514	Abnormality of binocular vision	1	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease			23
HP:0000504	HP:0000505	Visual impairment	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0000504	HP:0000505	Visual impairment	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000504	HP:0000505	Visual impairment	1	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome	HP:0040282 - Frequent		39
HP:0000504	HP:0000505	Visual impairment	1	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes			194
HP:0000504	HP:0000505	Visual impairment	1	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis			194
HP:0000504	HP:0000505	Visual impairment	1	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0000504	HP:0000505	Visual impairment	1	PAX6 CL E G H	5080	8620	OMIM:136520	Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included	.		194
HP:0000504	HP:0000505	Visual impairment	1	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia			194
HP:0000504	HP:0000505	Visual impairment	1	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia			194
HP:0000504	HP:0000505	Visual impairment	1	PAX6 CL E G H	5080	8620	ORPHA:35737	Morning glory disc anomaly			194
HP:0000504	HP:0000505	Visual impairment	1	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL			194
HP:0000504	HP:0000505	Visual impairment	1	PAX6 CL E G H	5080	8620	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		194
HP:0000504	HP:0000505	Visual impairment	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000613	Photophobia	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000662	Nyctalopia	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0000504	HP:0000505	Visual impairment	1	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54
HP:0000504	HP:0000662	Nyctalopia	1	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54	.
HP:0000504	HP:0000505	Visual impairment	1	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0000504	HP:0000505	Visual impairment	1	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000504	HP:0000662	Nyctalopia	1	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0000504	HP:0000613	Photophobia	1	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.		1
HP:0000504	HP:0000613	Photophobia	1	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040281 - Very frequent		1
HP:0000504	HP:0000505	Visual impairment	1	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis			11
HP:0000504	HP:0000505	Visual impairment	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0000504	HP:0000505	Visual impairment	1	PCYT1A CL E G H	5130	8754	ORPHA:85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	HP:0040281 - Very frequent		11
HP:0000504	HP:0000505	Visual impairment	1	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0000504	HP:0011514	Abnormality of binocular vision	1	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to			1
HP:0000504	HP:0000505	Visual impairment	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional		113
HP:0000504	HP:0000505	Visual impairment	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0000504	HP:0000613	Photophobia	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0000504	HP:0000662	Nyctalopia	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0000504	HP:0000505	Visual impairment	1	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0000504	HP:0000662	Nyctalopia	1	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0000504	HP:0000505	Visual impairment	1	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0000504	HP:0000551	Color vision defect	1	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare		126
HP:0000504	HP:0000662	Nyctalopia	1	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		126
HP:0000504	HP:0000662	Nyctalopia	1	PDE6B CL E G H	5158	8786	OMIM:163500	Night blindness, congenital stationary, autosomal dominant 2			126
HP:0000504	HP:0000505	Visual impairment	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0000504	HP:0000613	Photophobia	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0000504	HP:0000662	Nyctalopia	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0000504	HP:0000662	Nyctalopia	1	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40			126
HP:0000504	HP:0000505	Visual impairment	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0000504	HP:0000551	Color vision defect	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		80
HP:0000504	HP:0000613	Photophobia	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		80
HP:0000504	HP:0000505	Visual impairment	1	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4	.		80
HP:0000504	HP:0000551	Color vision defect	1	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4			80
HP:0000504	HP:0000613	Photophobia	1	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4	.		80
HP:0000504	HP:0000505	Visual impairment	1	PDE6C CL E G H	5146	8787	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		80
HP:0000504	HP:0000551	Color vision defect	1	PDE6C CL E G H	5146	8787	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		80
HP:0000504	HP:0000613	Photophobia	1	PDE6C CL E G H	5146	8787	ORPHA:1871	Progressive cone dystrophy	HP:0040281 - Very frequent		80
HP:0000504	HP:0000505	Visual impairment	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0000504	HP:0000505	Visual impairment	1	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa			18
HP:0000504	HP:0000613	Photophobia	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0000504	HP:0000662	Nyctalopia	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0000504	HP:0000662	Nyctalopia	1	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa	.		18
HP:0000504	HP:0000505	Visual impairment	1	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0000504	HP:0000505	Visual impairment	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0000504	HP:0000551	Color vision defect	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		14
HP:0000504	HP:0000613	Photophobia	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		14
HP:0000504	HP:0000505	Visual impairment	1	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0000504	HP:0000551	Color vision defect	1	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A			14
HP:0000504	HP:0000613	Photophobia	1	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A	.		14
HP:0000504	HP:0000505	Visual impairment	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000504	HP:0000505	Visual impairment	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0000504	HP:0000505	Visual impairment	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3			54
HP:0000504	HP:0000505	Visual impairment	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0000504	HP:0000505	Visual impairment	1	PDXK CL E G H	8566	8819	OMIM:618511	Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy	.
HP:0000504	HP:0000505	Visual impairment	1	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000504	HP:0000662	Nyctalopia	1	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		40
HP:0000504	HP:0000505	Visual impairment	1	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000504	HP:0000505	Visual impairment	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040282 - Frequent		66
HP:0000504	HP:0000613	Photophobia	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000504	HP:0000505	Visual impairment	1	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		169
HP:0000504	HP:0000662	Nyctalopia	1	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		169
HP:0000504	HP:0000505	Visual impairment	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		169
HP:0000504	HP:0000505	Visual impairment	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		169
HP:0000504	HP:0000505	Visual impairment	1	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		75
HP:0000504	HP:0000662	Nyctalopia	1	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		75
HP:0000504	HP:0000505	Visual impairment	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		75
HP:0000504	HP:0000505	Visual impairment	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.		75
HP:0000504	HP:0000505	Visual impairment	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		75
HP:0000504	HP:0000505	Visual impairment	1	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		4
HP:0000504	HP:0000662	Nyctalopia	1	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		4
HP:0000504	HP:0000505	Visual impairment	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		4
HP:0000504	HP:0000505	Visual impairment	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		4
HP:0000504	HP:0000505	Visual impairment	1	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		65
HP:0000504	HP:0000662	Nyctalopia	1	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		65
HP:0000504	HP:0000505	Visual impairment	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		65
HP:0000504	HP:0000505	Visual impairment	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		65
HP:0000504	HP:0000505	Visual impairment	1	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		66
HP:0000504	HP:0000662	Nyctalopia	1	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		66
HP:0000504	HP:0000505	Visual impairment	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		66
HP:0000504	HP:0000505	Visual impairment	1	PEX13 CL E G H	5194	8855	OMIM:614885	Peroxisome biogenesis disorder 11B			66
HP:0000504	HP:0000505	Visual impairment	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		66
HP:0000504	HP:0000505	Visual impairment	1	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		46
HP:0000504	HP:0000662	Nyctalopia	1	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		46
HP:0000504	HP:0000505	Visual impairment	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		46
HP:0000504	HP:0000505	Visual impairment	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		46
HP:0000504	HP:0000505	Visual impairment	1	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		59
HP:0000504	HP:0000662	Nyctalopia	1	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		59
HP:0000504	HP:0000505	Visual impairment	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		59
HP:0000504	HP:0000505	Visual impairment	1	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.		59
HP:0000504	HP:0000505	Visual impairment	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		59
HP:0000504	HP:0000505	Visual impairment	1	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		62
HP:0000504	HP:0000662	Nyctalopia	1	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		62
HP:0000504	HP:0000505	Visual impairment	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		62
HP:0000504	HP:0000505	Visual impairment	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		62
HP:0000504	HP:0000505	Visual impairment	1	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		82
HP:0000504	HP:0000662	Nyctalopia	1	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		82
HP:0000504	HP:0000505	Visual impairment	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		82
HP:0000504	HP:0000505	Visual impairment	1	PEX2 CL E G H	5828	9717	OMIM:614867	Peroxisome biogenesis disorder 5B	.		82
HP:0000504	HP:0000505	Visual impairment	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		82
HP:0000504	HP:0000505	Visual impairment	1	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		106
HP:0000504	HP:0000662	Nyctalopia	1	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		106
HP:0000504	HP:0000505	Visual impairment	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		106
HP:0000504	HP:0000505	Visual impairment	1	PEX26 CL E G H	55670	22965	OMIM:614873	Peroxisome biogenesis disorder 7B	.		106
HP:0000504	HP:0000505	Visual impairment	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		106
HP:0000504	HP:0000505	Visual impairment	1	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		47
HP:0000504	HP:0000662	Nyctalopia	1	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		47
HP:0000504	HP:0000505	Visual impairment	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		47
HP:0000504	HP:0000505	Visual impairment	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		47
HP:0000504	HP:0000505	Visual impairment	1	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		99
HP:0000504	HP:0000662	Nyctalopia	1	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		99
HP:0000504	HP:0000505	Visual impairment	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		99
HP:0000504	HP:0000505	Visual impairment	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		99
HP:0000504	HP:0000505	Visual impairment	1	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0000504	HP:0000505	Visual impairment	1	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		98
HP:0000504	HP:0000662	Nyctalopia	1	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		98
HP:0000504	HP:0000505	Visual impairment	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040282 - Frequent		98
HP:0000504	HP:0000505	Visual impairment	1	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.		98
HP:0000504	HP:0000505	Visual impairment	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		98
HP:0000504	HP:0000505	Visual impairment	1	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040282 - Frequent		72
HP:0000504	HP:0000662	Nyctalopia	1	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040282 - Frequent		72
HP:0000504	HP:0000662	Nyctalopia	1	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.		72
HP:0000504	HP:0000505	Visual impairment	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000504	HP:0000505	Visual impairment	1	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0000504	HP:0000505	Visual impairment	1	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency			21
HP:0000504	HP:0000505	Visual impairment	1	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.		29
HP:0000504	HP:0000505	Visual impairment	1	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form			37
HP:0000504	HP:0000505	Visual impairment	1	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2	.		6
HP:0000504	HP:0000505	Visual impairment	1	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040282 - Frequent		45
HP:0000504	HP:0000662	Nyctalopia	1	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040282 - Frequent		45
HP:0000504	HP:0000662	Nyctalopia	1	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.		45
HP:0000504	HP:0000505	Visual impairment	1	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0000504	HP:0000505	Visual impairment	1	PIEZO2 CL E G H	63895	26270	ORPHA:1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	HP:0040282 - Frequent		77
HP:0000504	HP:0000505	Visual impairment	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0000504	HP:0000505	Visual impairment	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0000504	HP:0000505	Visual impairment	1	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000504	HP:0000505	Visual impairment	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000504	HP:0000505	Visual impairment	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000504	HP:0000505	Visual impairment	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55			2
HP:0000504	HP:0000505	Visual impairment	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000504	HP:0000505	Visual impairment	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000504	HP:0000505	Visual impairment	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0000504	HP:0000505	Visual impairment	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0000504	HP:0000505	Visual impairment	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000504	HP:0000505	Visual impairment	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0000504	HP:0000505	Visual impairment	1	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly			162
HP:0000504	HP:0000505	Visual impairment	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0000504	HP:0100576	Amaurosis fugax	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0000504	HP:0000505	Visual impairment	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000504	HP:0000505	Visual impairment	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0000504	HP:0000613	Photophobia	1	PIKFYVE CL E G H	200576	23785	OMIM:121850	Corneal fleck dystrophy	.		112
HP:0000504	HP:0000551	Color vision defect	1	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		55
HP:0000504	HP:0011514	Abnormality of binocular vision	1	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease			55
HP:0000504	HP:0000505	Visual impairment	1	PITPNM3 CL E G H	83394	21043	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		135
HP:0000504	HP:0000551	Color vision defect	1	PITPNM3 CL E G H	83394	21043	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		135
HP:0000504	HP:0000613	Photophobia	1	PITPNM3 CL E G H	83394	21043	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		135
HP:0000504	HP:0000662	Nyctalopia	1	PITPNM3 CL E G H	83394	21043	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		135
HP:0000504	HP:0000505	Visual impairment	1	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5			135
HP:0000504	HP:0000551	Color vision defect	1	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5	.		135
HP:0000504	HP:0000613	Photophobia	1	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5	.		135
HP:0000504	HP:0000505	Visual impairment	1	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea			51
HP:0000504	HP:0000505	Visual impairment	1	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types			6
HP:0000504	HP:0000505	Visual impairment	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0000504	HP:0000505	Visual impairment	1	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A			133
HP:0000504	HP:0000613	Photophobia	1	PLCD1 CL E G H	5333	9060	ORPHA:2387	Leukonychia totalis	HP:0040282 - Frequent		5
HP:0000504	HP:0000505	Visual impairment	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0000504	HP:0000505	Visual impairment	1	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare		2
HP:0000504	HP:0000505	Visual impairment	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included			11
HP:0000504	HP:0000505	Visual impairment	1	PLK4 CL E G H	10733	11397	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		11
HP:0000504	HP:0000505	Visual impairment	1	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	.		11
HP:0000504	HP:0000505	Visual impairment	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0000504	HP:0000505	Visual impairment	1	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6
HP:0000504	HP:0000505	Visual impairment	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0000504	HP:0100576	Amaurosis fugax	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0000504	HP:0000505	Visual impairment	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0000504	HP:0100576	Amaurosis fugax	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0000504	HP:0000505	Visual impairment	1	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0000504	HP:0000613	Photophobia	1	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome	.		103
HP:0000504	HP:0000505	Visual impairment	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.		60
HP:0000504	HP:0000505	Visual impairment	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25			60
HP:0000504	HP:0000505	Visual impairment	1	POC1B CL E G H	282809	30836	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		3
HP:0000504	HP:0000551	Color vision defect	1	POC1B CL E G H	282809	30836	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		3
HP:0000504	HP:0000613	Photophobia	1	POC1B CL E G H	282809	30836	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		3
HP:0000504	HP:0000662	Nyctalopia	1	POC1B CL E G H	282809	30836	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		3
HP:0000504	HP:0000505	Visual impairment	1	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	.		3
HP:0000504	HP:0000551	Color vision defect	1	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	.		3
HP:0000504	HP:0000551	Color vision defect	1	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		6
HP:0000504	HP:0011514	Abnormality of binocular vision	1	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease			6
HP:0000504	HP:0000505	Visual impairment	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0000504	HP:0000505	Visual impairment	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040282 - Frequent		35
HP:0000504	HP:0000505	Visual impairment	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0000504	HP:0000613	Photophobia	1	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0000504	HP:0000505	Visual impairment	1	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome			464
HP:0000504	HP:0000505	Visual impairment	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0000504	HP:0000505	Visual impairment	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0000504	HP:0000551	Color vision defect	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0000504	HP:0011514	Abnormality of binocular vision	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0000504	HP:0000505	Visual impairment	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0000504	HP:0011514	Abnormality of binocular vision	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000504	HP:0000505	Visual impairment	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	HP:0040283 - Occasional		464
HP:0000504	HP:0000551	Color vision defect	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000504	HP:0011514	Abnormality of binocular vision	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000504	HP:0000505	Visual impairment	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0000504	HP:0000505	Visual impairment	1	POLG2 CL E G H	11232	9180	OMIM:619425	MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B			45
HP:0000504	HP:0000505	Visual impairment	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0000504	HP:0000613	Photophobia	1	POLH CL E G H	5429	9181	ORPHA:90342	Xeroderma pigmentosum variant	HP:0040282 - Frequent		155
HP:0000504	HP:0000613	Photophobia	1	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type	.		155
HP:0000504	HP:0000505	Visual impairment	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		38
HP:0000504	HP:0000505	Visual impairment	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		31
HP:0000504	HP:0000505	Visual impairment	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000504	HP:0000505	Visual impairment	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000504	HP:0000505	Visual impairment	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0000504	HP:0000505	Visual impairment	1	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		180
HP:0000504	HP:0000505	Visual impairment	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0000504	HP:0000613	Photophobia	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0000504	HP:0000662	Nyctalopia	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0000504	HP:0000505	Visual impairment	1	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0000504	HP:0000662	Nyctalopia	1	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0000504	HP:0000505	Visual impairment	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0000504	HP:0000505	Visual impairment	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.		18
HP:0000504	HP:0000505	Visual impairment	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0000504	HP:0000505	Visual impairment	1	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		213
HP:0000504	HP:0000505	Visual impairment	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000504	HP:0000505	Visual impairment	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0000504	HP:0000505	Visual impairment	1	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		221
HP:0000504	HP:0000505	Visual impairment	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000504	HP:0000505	Visual impairment	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000504	HP:0000505	Visual impairment	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000504	HP:0000662	Nyctalopia	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000504	HP:0000505	Visual impairment	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000504	HP:0000505	Visual impairment	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.		2
HP:0000504	HP:0000505	Visual impairment	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0000504	HP:0000505	Visual impairment	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0000504	HP:0000505	Visual impairment	1	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1			2
HP:0000504	HP:0000505	Visual impairment	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0000504	HP:0000505	Visual impairment	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000504	HP:0000505	Visual impairment	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0000504	HP:0000613	Photophobia	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0000504	HP:0000662	Nyctalopia	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0000504	HP:0000505	Visual impairment	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0000504	HP:0000505	Visual impairment	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0000504	HP:0000505	Visual impairment	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000504	HP:0000505	Visual impairment	1	PRIMPOL CL E G H	201973	26575	OMIM:615420	Myopia 22, autosomal dominant	.		1
HP:0000504	HP:0000505	Visual impairment	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional		42
HP:0000504	HP:0000551	Color vision defect	1	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		138
HP:0000504	HP:0011514	Abnormality of binocular vision	1	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease			138
HP:0000504	HP:0000505	Visual impairment	1	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.		69
HP:0000504	HP:0011514	Abnormality of binocular vision	1	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia			69
HP:0000504	HP:0025152	Poor visual behavior for age	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent		69
HP:0000504	HP:0000505	Visual impairment	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000504	HP:0000551	Color vision defect	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		9
HP:0000504	HP:0000505	Visual impairment	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000504	HP:0000551	Color vision defect	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000504	HP:0000505	Visual impairment	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent		34
HP:0000504	HP:0000505	Visual impairment	1	PROM1 CL E G H	8842	9454	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		110
HP:0000504	HP:0000551	Color vision defect	1	PROM1 CL E G H	8842	9454	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		110
HP:0000504	HP:0000613	Photophobia	1	PROM1 CL E G H	8842	9454	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		110
HP:0000504	HP:0000662	Nyctalopia	1	PROM1 CL E G H	8842	9454	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		110
HP:0000504	HP:0000505	Visual impairment	1	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000504	HP:0000551	Color vision defect	1	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000504	HP:0000662	Nyctalopia	1	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000504	HP:0000505	Visual impairment	1	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2			110
HP:0000504	HP:0000551	Color vision defect	1	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2			110
HP:0000504	HP:0000505	Visual impairment	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0000504	HP:0000613	Photophobia	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0000504	HP:0000662	Nyctalopia	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0000504	HP:0000505	Visual impairment	1	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000504	HP:0000662	Nyctalopia	1	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000504	HP:0000505	Visual impairment	1	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease			110
HP:0000504	HP:0000551	Color vision defect	1	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		110
HP:0000504	HP:0000662	Nyctalopia	1	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		110
HP:0000504	HP:0000505	Visual impairment	1	PROM1 CL E G H	8842	9454	OMIM:603786	Stargardt disease 4			110
HP:0000504	HP:0000505	Visual impairment	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000504	HP:0000505	Visual impairment	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive			75
HP:0000504	HP:0000505	Visual impairment	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000504	HP:0000613	Photophobia	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000504	HP:0000662	Nyctalopia	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0000504	HP:0000505	Visual impairment	1	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18			28
HP:0000504	HP:0000662	Nyctalopia	1	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18	.		28
HP:0000504	HP:0000505	Visual impairment	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0000504	HP:0000613	Photophobia	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0000504	HP:0000662	Nyctalopia	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0000504	HP:0000505	Visual impairment	1	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0000504	HP:0000662	Nyctalopia	1	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0000504	HP:0000505	Visual impairment	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000504	HP:0000613	Photophobia	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000504	HP:0000662	Nyctalopia	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0000504	HP:0000662	Nyctalopia	1	PRPF4 CL E G H	9128	17349	OMIM:615922	Retinitis pigmentosa 70	.		2
HP:0000504	HP:0000505	Visual impairment	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0000504	HP:0000613	Photophobia	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0000504	HP:0000662	Nyctalopia	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0000504	HP:0000505	Visual impairment	1	PRPF6 CL E G H	24148	15860	OMIM:613983	Retinitis pigmentosa 60	.		51
HP:0000504	HP:0000505	Visual impairment	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0000504	HP:0000613	Photophobia	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0000504	HP:0000662	Nyctalopia	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0000504	HP:0000505	Visual impairment	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13			94
HP:0000504	HP:0000662	Nyctalopia	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13	.	HP:0003621 - Juvenile onset	94
HP:0000504	HP:0000505	Visual impairment	1	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040281 - Very frequent		159
HP:0000504	HP:0000551	Color vision defect	1	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		159
HP:0000504	HP:0000505	Visual impairment	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		159
HP:0000504	HP:0000551	Color vision defect	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy			159
HP:0000504	HP:0000662	Nyctalopia	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040284 - Very rare		159
HP:0000504	HP:0000613	Photophobia	1	PRPH2 CL E G H	5961	9942	OMIM:613105	Choroidal dystrophy, central areolar 2	.		159
HP:0000504	HP:0000505	Visual impairment	1	PRPH2 CL E G H	5961	9942	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		159
HP:0000504	HP:0000551	Color vision defect	1	PRPH2 CL E G H	5961	9942	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		159
HP:0000504	HP:0000613	Photophobia	1	PRPH2 CL E G H	5961	9942	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		159
HP:0000504	HP:0000662	Nyctalopia	1	PRPH2 CL E G H	5961	9942	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		159
HP:0000504	HP:0000662	Nyctalopia	1	PRPH2 CL E G H	5961	9942	OMIM:136880	Fundus albipunctatus	.		159
HP:0000504	HP:0000613	Photophobia	1	PRPH2 CL E G H	5961	9942	OMIM:169150	Macular dystrophy, patterned, 1	HP:0040283 - Occasional		159
HP:0000504	HP:0000662	Nyctalopia	1	PRPH2 CL E G H	5961	9942	OMIM:169150	Macular dystrophy, patterned, 1	HP:0040283 - Occasional		159
HP:0000504	HP:0012508	Metamorphopsia	1	PRPH2 CL E G H	5961	9942	OMIM:169150	Macular dystrophy, patterned, 1	HP:0040283 - Occasional		159
HP:0000504	HP:0000505	Visual impairment	1	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	.	HP:0003581 - Adult onset	159
HP:0000504	HP:0000613	Photophobia	1	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	.		159
HP:0000504	HP:0012508	Metamorphopsia	1	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	.		159
HP:0000504	HP:0000505	Visual impairment	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0000504	HP:0000613	Photophobia	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0000504	HP:0000662	Nyctalopia	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0000504	HP:0000505	Visual impairment	1	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7			159
HP:0000504	HP:0000662	Nyctalopia	1	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7			159
HP:0000504	HP:0000505	Visual impairment	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000504	HP:0000613	Photophobia	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		159
HP:0000504	HP:0000662	Nyctalopia	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		159
HP:0000504	HP:0000505	Visual impairment	1	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease			159
HP:0000504	HP:0000551	Color vision defect	1	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		159
HP:0000504	HP:0000662	Nyctalopia	1	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		159
HP:0000504	HP:0000505	Visual impairment	1	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome			49
HP:0000504	HP:0000505	Visual impairment	1	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0000504	HP:0000505	Visual impairment	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent		49
HP:0000504	HP:0000505	Visual impairment	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000504	HP:0000505	Visual impairment	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000504	HP:0100576	Amaurosis fugax	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare		94
HP:0000504	HP:0011514	Abnormality of binocular vision	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000504	HP:0012508	Metamorphopsia	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		94
HP:0000504	HP:0030786	Photopsia	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		94
HP:0000504	HP:0000505	Visual impairment	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0000504	HP:0000505	Visual impairment	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0000504	HP:0000613	Photophobia	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0000504	HP:0000505	Visual impairment	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0000504	HP:0000505	Visual impairment	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0000504	HP:0000505	Visual impairment	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0000504	HP:0000505	Visual impairment	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000504	HP:0000505	Visual impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0000504	HP:0000505	Visual impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0000504	HP:0000505	Visual impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0000504	HP:0000505	Visual impairment	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0000504	HP:0000505	Visual impairment	1	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis
HP:0000504	HP:0000505	Visual impairment	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040282 - Frequent		3
HP:0000504	HP:0100576	Amaurosis fugax	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000504	HP:0011514	Abnormality of binocular vision	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0000504	HP:0000505	Visual impairment	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		3
HP:0000504	HP:0000505	Visual impairment	1	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			3
HP:0000504	HP:0000505	Visual impairment	1	PTPN22 CL E G H	26191	9652	ORPHA:3437	Vogt-Koyanagi-Harada disease	HP:0040282 - Frequent		3
HP:0000504	HP:0000505	Visual impairment	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0000504	HP:0000505	Visual impairment	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000504	HP:0011514	Abnormality of binocular vision	1	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47			1
HP:0000504	HP:0000505	Visual impairment	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional		1
HP:0000504	HP:0000505	Visual impairment	1	PXDN CL E G H	7837	14966	OMIM:269400	Corneal opacification with other ocular anomalies			22
HP:0000504	HP:0000505	Visual impairment	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy			11
HP:0000504	HP:0000505	Visual impairment	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0000504	HP:0000505	Visual impairment	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome			85
HP:0000504	HP:0000505	Visual impairment	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0000504	HP:0000505	Visual impairment	1	RAB28 CL E G H	9364	9768	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		6
HP:0000504	HP:0000551	Color vision defect	1	RAB28 CL E G H	9364	9768	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		6
HP:0000504	HP:0000613	Photophobia	1	RAB28 CL E G H	9364	9768	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		6
HP:0000504	HP:0000662	Nyctalopia	1	RAB28 CL E G H	9364	9768	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		6
HP:0000504	HP:0000505	Visual impairment	1	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18			6
HP:0000504	HP:0000505	Visual impairment	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome			90
HP:0000504	HP:0000505	Visual impairment	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome			135
HP:0000504	HP:0000505	Visual impairment	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0000504	HP:0000505	Visual impairment	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0000504	HP:0000505	Visual impairment	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0000504	HP:0000505	Visual impairment	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0000504	HP:0011514	Abnormality of binocular vision	1	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			73
HP:0000504	HP:0000505	Visual impairment	1	RAX2 CL E G H	84839	18286	OMIM:620102				52
HP:0000504	HP:0000505	Visual impairment	1	RAX2 CL E G H	84839	18286	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		52
HP:0000504	HP:0000551	Color vision defect	1	RAX2 CL E G H	84839	18286	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		52
HP:0000504	HP:0000613	Photophobia	1	RAX2 CL E G H	84839	18286	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		52
HP:0000504	HP:0000662	Nyctalopia	1	RAX2 CL E G H	84839	18286	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		52
HP:0000504	HP:0000505	Visual impairment	1	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11			52
HP:0000504	HP:0000613	Photophobia	1	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11	HP:0040283 - Occasional		52
HP:0000504	HP:0000505	Visual impairment	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0000504	HP:0000505	Visual impairment	1	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa			108
HP:0000504	HP:0000613	Photophobia	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0000504	HP:0000662	Nyctalopia	1	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa	.		108
HP:0000504	HP:0000662	Nyctalopia	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0000504	HP:0000505	Visual impairment	1	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66	.		108
HP:0000504	HP:0000662	Nyctalopia	1	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66	.		108
HP:0000504	HP:0000505	Visual impairment	1	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	.		8
HP:0000504	HP:0000505	Visual impairment	1	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA			8
HP:0000504	HP:0000505	Visual impairment	1	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis			95
HP:0000504	HP:0000505	Visual impairment	1	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12			95
HP:0000504	HP:0000505	Visual impairment	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0000504	HP:0000662	Nyctalopia	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0000504	HP:0000505	Visual impairment	1	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis			45
HP:0000504	HP:0000505	Visual impairment	1	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13			45
HP:0000504	HP:0000505	Visual impairment	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000504	HP:0000613	Photophobia	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000504	HP:0000662	Nyctalopia	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0000504	HP:0000662	Nyctalopia	1	RDH5 CL E G H	5959	9940	OMIM:136880	Fundus albipunctatus	.		32
HP:0000504	HP:0000505	Visual impairment	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000504	HP:0000613	Photophobia	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		32
HP:0000504	HP:0000662	Nyctalopia	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		32
HP:0000504	HP:0000505	Visual impairment	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000504	HP:0000613	Photophobia	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000504	HP:0000662	Nyctalopia	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0000504	HP:0000505	Visual impairment	1	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77			5
HP:0000504	HP:0000662	Nyctalopia	1	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77	.		5
HP:0000504	HP:0000505	Visual impairment	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0000504	HP:0000505	Visual impairment	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0000504	HP:0000505	Visual impairment	1	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040283 - Occasional		3
HP:0000504	HP:0000505	Visual impairment	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0000504	HP:0000505	Visual impairment	1	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040282 - Frequent		92
HP:0000504	HP:0000505	Visual impairment	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000504	HP:0000613	Photophobia	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000504	HP:0000662	Nyctalopia	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0000504	HP:0000505	Visual impairment	1	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0000504	HP:0000505	Visual impairment	1	RGS9 CL E G H	8787	10004	ORPHA:75374	Bradyopsia	HP:0040281 - Very frequent		9
HP:0000504	HP:0000613	Photophobia	1	RGS9 CL E G H	8787	10004	ORPHA:75374	Bradyopsia	HP:0040281 - Very frequent		9
HP:0000504	HP:0030511	Bradyopsia	1	RGS9 CL E G H	8787	10004	OMIM:608415	PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS			9
HP:0000504	HP:0000505	Visual impairment	1	RGS9BP CL E G H	388531	30304	ORPHA:75374	Bradyopsia	HP:0040281 - Very frequent		6
HP:0000504	HP:0000613	Photophobia	1	RGS9BP CL E G H	388531	30304	ORPHA:75374	Bradyopsia	HP:0040281 - Very frequent		6
HP:0000504	HP:0030511	Bradyopsia	1	RGS9BP CL E G H	388531	30304	OMIM:608415	PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION; PERRS			6
HP:0000504	HP:0000505	Visual impairment	1	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0000504	HP:0000551	Color vision defect	1	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare		107
HP:0000504	HP:0000662	Nyctalopia	1	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		107
HP:0000504	HP:0000662	Nyctalopia	1	RHO CL E G H	6010	10012	OMIM:136880	Fundus albipunctatus	.		107
HP:0000504	HP:0000505	Visual impairment	1	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1			107
HP:0000504	HP:0000662	Nyctalopia	1	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1			107
HP:0000504	HP:0000505	Visual impairment	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0000504	HP:0000613	Photophobia	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0000504	HP:0000662	Nyctalopia	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0000504	HP:0000505	Visual impairment	1	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4			107
HP:0000504	HP:0000662	Nyctalopia	1	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4	.		107
HP:0000504	HP:0000505	Visual impairment	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000504	HP:0000613	Photophobia	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		107
HP:0000504	HP:0000662	Nyctalopia	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		107
HP:0000504	HP:0000505	Visual impairment	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000504	HP:0000505	Visual impairment	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000504	HP:0011514	Abnormality of binocular vision	1	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000504	HP:0000505	Visual impairment	1	RIMS1 CL E G H	22999	17282	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		102
HP:0000504	HP:0000551	Color vision defect	1	RIMS1 CL E G H	22999	17282	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		102
HP:0000504	HP:0000613	Photophobia	1	RIMS1 CL E G H	22999	17282	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		102
HP:0000504	HP:0000662	Nyctalopia	1	RIMS1 CL E G H	22999	17282	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		102
HP:0000504	HP:0000505	Visual impairment	1	RIMS1 CL E G H	22999	17282	OMIM:603649	CONE-ROD DYSTROPHY 7; CORD7			102
HP:0000504	HP:0000551	Color vision defect	1	RIMS1 CL E G H	22999	17282	OMIM:603649	CONE-ROD DYSTROPHY 7; CORD7			102
HP:0000504	HP:0000505	Visual impairment	1	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0000504	HP:0000613	Photophobia	1	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0000504	HP:0000505	Visual impairment	1	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0000504	HP:0000551	Color vision defect	1	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040281 - Very frequent		47
HP:0000504	HP:0000662	Nyctalopia	1	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional		47
HP:0000504	HP:0000662	Nyctalopia	1	RLBP1 CL E G H	6017	10024	OMIM:607475	Bothnia retinal dystrophy	.		47
HP:0000504	HP:0000662	Nyctalopia	1	RLBP1 CL E G H	6017	10024	OMIM:136880	Fundus albipunctatus	.		47
HP:0000504	HP:0000505	Visual impairment	1	RLBP1 CL E G H	6017	10024	OMIM:607476	NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD			47
HP:0000504	HP:0000551	Color vision defect	1	RLBP1 CL E G H	6017	10024	OMIM:607476	NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD			47
HP:0000504	HP:0000662	Nyctalopia	1	RLBP1 CL E G H	6017	10024	OMIM:607476	NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD			47
HP:0000504	HP:0000505	Visual impairment	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000504	HP:0000613	Photophobia	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000504	HP:0000662	Nyctalopia	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0000504	HP:0000505	Visual impairment	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000504	HP:0000613	Photophobia	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		47
HP:0000504	HP:0000662	Nyctalopia	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		47
HP:0000504	HP:0000505	Visual impairment	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0000504	HP:0000613	Photophobia	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0000504	HP:0000505	Visual impairment	1	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000504	HP:0000505	Visual impairment	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0000504	HP:0000505	Visual impairment	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0000504	HP:0000662	Nyctalopia	1	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0000504	HP:0000505	Visual impairment	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:1824	Lowry-Wood syndrome	HP:0040283 - Occasional		15
HP:0000504	HP:0000505	Visual impairment	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0000504	HP:0000505	Visual impairment	1	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa			38
HP:0000504	HP:0000613	Photophobia	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0000504	HP:0000662	Nyctalopia	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0000504	HP:0000662	Nyctalopia	1	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa	.		38
HP:0000504	HP:0000505	Visual impairment	1	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7			38
HP:0000504	HP:0000662	Nyctalopia	1	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7			38
HP:0000504	HP:0000505	Visual impairment	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000504	HP:0000505	Visual impairment	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0000504	HP:0000613	Photophobia	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0000504	HP:0000662	Nyctalopia	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0000504	HP:0000505	Visual impairment	1	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0000504	HP:0000662	Nyctalopia	1	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1	.		111
HP:0000504	HP:0000505	Visual impairment	1	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0000504	HP:0000505	Visual impairment	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0000504	HP:0000613	Photophobia	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0000504	HP:0000662	Nyctalopia	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0000504	HP:0000505	Visual impairment	1	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0000504	HP:0000662	Nyctalopia	1	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0000504	HP:0000505	Visual impairment	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000504	HP:0000613	Photophobia	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000504	HP:0000662	Nyctalopia	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0000504	HP:0000505	Visual impairment	1	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000504	HP:0000662	Nyctalopia	1	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked	.		45
HP:0000504	HP:0000505	Visual impairment	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000504	HP:0000613	Photophobia	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000504	HP:0000662	Nyctalopia	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0000504	HP:0000505	Visual impairment	1	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0000504	HP:0000662	Nyctalopia	1	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	.		14
HP:0000504	HP:0000505	Visual impairment	1	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis			129
HP:0000504	HP:0000505	Visual impairment	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0000504	HP:0000662	Nyctalopia	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0000504	HP:0000505	Visual impairment	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0000504	HP:0000613	Photophobia	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0000504	HP:0000662	Nyctalopia	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0000504	HP:0000505	Visual impairment	1	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20	.		129
HP:0000504	HP:0000662	Nyctalopia	1	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20	.		129
HP:0000504	HP:0000505	Visual impairment	1	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87			129
HP:0000504	HP:0000505	Visual impairment	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		129
HP:0000504	HP:0000551	Color vision defect	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		129
HP:0000504	HP:0000613	Photophobia	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		129
HP:0000504	HP:0000622	Blurred vision	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		129
HP:0000504	HP:0000662	Nyctalopia	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		129
HP:0000504	HP:0000505	Visual impairment	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0000504	HP:0000551	Color vision defect	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		200
HP:0000504	HP:0000613	Photophobia	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		200
HP:0000504	HP:0000505	Visual impairment	1	RPGR CL E G H	6103	10295	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		200
HP:0000504	HP:0000551	Color vision defect	1	RPGR CL E G H	6103	10295	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		200
HP:0000504	HP:0000613	Photophobia	1	RPGR CL E G H	6103	10295	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		200
HP:0000504	HP:0000662	Nyctalopia	1	RPGR CL E G H	6103	10295	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		200
HP:0000504	HP:0000505	Visual impairment	1	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1			200
HP:0000504	HP:0000551	Color vision defect	1	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1			200
HP:0000504	HP:0000613	Photophobia	1	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1			200
HP:0000504	HP:0000662	Nyctalopia	1	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1			200
HP:0000504	HP:0000505	Visual impairment	1	RPGR CL E G H	6103	10295	OMIM:300834	MACULAR DEGENERATION, X-LINKED ATROPHIC			200
HP:0000504	HP:0000505	Visual impairment	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0000504	HP:0000613	Photophobia	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0000504	HP:0000662	Nyctalopia	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0000504	HP:0000505	Visual impairment	1	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000504	HP:0000551	Color vision defect	1	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000504	HP:0000613	Photophobia	1	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000504	HP:0000662	Nyctalopia	1	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000504	HP:0000505	Visual impairment	1	RPGRIP1 CL E G H	57096	13436	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		109
HP:0000504	HP:0000551	Color vision defect	1	RPGRIP1 CL E G H	57096	13436	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		109
HP:0000504	HP:0000613	Photophobia	1	RPGRIP1 CL E G H	57096	13436	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		109
HP:0000504	HP:0000662	Nyctalopia	1	RPGRIP1 CL E G H	57096	13436	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		109
HP:0000504	HP:0000505	Visual impairment	1	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0000504	HP:0000551	Color vision defect	1	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0000504	HP:0000613	Photophobia	1	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0000504	HP:0000505	Visual impairment	1	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis			109
HP:0000504	HP:0000505	Visual impairment	1	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0000504	HP:0000613	Photophobia	1	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6	.		109
HP:0000504	HP:0000505	Visual impairment	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		167
HP:0000504	HP:0000505	Visual impairment	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0000504	HP:0100576	Amaurosis fugax	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0000504	HP:0000505	Visual impairment	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0000504	HP:0000505	Visual impairment	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0000504	HP:0000505	Visual impairment	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000504	HP:0000505	Visual impairment	1	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000504	HP:0000505	Visual impairment	1	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000504	HP:0000551	Color vision 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:0000504	HP:0000613	Photophobia	1	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000504	HP:0000505	Visual impairment	1	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0000504	HP:0000551	Color vision defect	1	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare		32
HP:0000504	HP:0000662	Nyctalopia	1	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		32
HP:0000504	HP:0000505	Visual impairment	1	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease	HP:0040284 - Very rare		32
HP:0000504	HP:0000662	Nyctalopia	1	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease			32
HP:0000504	HP:0000662	Nyctalopia	1	SAG CL E G H	6295	10521	OMIM:258100	Oguchi disease 1			32
HP:0000504	HP:0012047	Hemeralopia	1	SAG CL E G H	6295	10521	OMIM:258100	Oguchi disease 1	.		32
HP:0000504	HP:0000505	Visual impairment	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0000504	HP:0000613	Photophobia	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0000504	HP:0000662	Nyctalopia	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0000504	HP:0000505	Visual impairment	1	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0000504	HP:0000662	Nyctalopia	1	SAG CL E G H	6295	10521	OMIM:613758	RETINITIS PIGMENTOSA 47; RP47			32
HP:0000504	HP:0000505	Visual impairment	1	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000504	HP:0000505	Visual impairment	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent		86
HP:0000504	HP:0000505	Visual impairment	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000504	HP:0100576	Amaurosis fugax	1	SAMD12 CL E G H	401474	31750	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional		2
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0000504	HP:0000505	Visual impairment	1	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040283 - Occasional		8
HP:0000504	HP:0000505	Visual impairment	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000504	HP:0000505	Visual impairment	1	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0000504	HP:0000662	Nyctalopia	1	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0000504	HP:0000505	Visual impairment	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000613	Photophobia	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000662	Nyctalopia	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0000504	HP:0000505	Visual impairment	1	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)			1053
HP:0000504	HP:0000505	Visual impairment	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000504	HP:0100576	Amaurosis fugax	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040284 - Very rare		1053
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000504	HP:0012508	Metamorphopsia	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		1053
HP:0000504	HP:0030786	Photopsia	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		1053
HP:0000504	HP:0000505	Visual impairment	1	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3			1053
HP:0000504	HP:0000613	Photophobia	1	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3	.		1053
HP:0000504	HP:0000505	Visual impairment	1	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0000504	HP:0000622	Blurred vision	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040283 - Occasional		263
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans			263
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes			263
HP:0000504	HP:0000505	Visual impairment	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0000504	HP:0000622	Blurred vision	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.		318
HP:0000504	HP:0000505	Visual impairment	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		40
HP:0000504	HP:0000505	Visual impairment	1	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		61
HP:0000504	HP:0000505	Visual impairment	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0000504	HP:0000505	Visual impairment	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0000504	HP:0000505	Visual impairment	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000504	HP:0000505	Visual impairment	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0000504	HP:0000505	Visual impairment	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0000504	HP:0000505	Visual impairment	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0000504	HP:0000505	Visual impairment	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0000504	HP:0000505	Visual impairment	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0000504	HP:0000505	Visual impairment	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000504	HP:0000505	Visual impairment	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		14
HP:0000504	HP:0000551	Color vision defect	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		14
HP:0000504	HP:0000505	Visual impairment	1	SEMA4A CL E G H	64218	10729	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		48
HP:0000504	HP:0000551	Color vision defect	1	SEMA4A CL E G H	64218	10729	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		48
HP:0000504	HP:0000613	Photophobia	1	SEMA4A CL E G H	64218	10729	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		48
HP:0000504	HP:0000662	Nyctalopia	1	SEMA4A CL E G H	64218	10729	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		48
HP:0000504	HP:0000505	Visual impairment	1	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10			48
HP:0000504	HP:0000613	Photophobia	1	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10	.		48
HP:0000504	HP:0000662	Nyctalopia	1	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10	.		48
HP:0000504	HP:0000505	Visual impairment	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0000504	HP:0100576	Amaurosis fugax	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0000504	HP:0000505	Visual impairment	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000504	HP:0000613	Photophobia	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000504	HP:0000662	Nyctalopia	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0000504	HP:0000505	Visual impairment	1	SEMA4A CL E G H	64218	10729	OMIM:610282	Retinitis pigmentosa 35			48
HP:0000504	HP:0000662	Nyctalopia	1	SEMA4A CL E G H	64218	10729	OMIM:610282	Retinitis pigmentosa 35	.		48
HP:0000504	HP:0000505	Visual impairment	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2			66
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies			28
HP:0000504	HP:0000505	Visual impairment	1	SETBP1 CL E G H	26040	15573	OMIM:616078	Mental retardation, autosomal dominant 29			143
HP:0000504	HP:0000505	Visual impairment	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent		143
HP:0000504	HP:0000505	Visual impairment	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0000504	HP:0000505	Visual impairment	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000504	HP:0000505	Visual impairment	1	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma			19
HP:0000504	HP:0012508	Metamorphopsia	1	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional		19
HP:0000504	HP:0030786	Photopsia	1	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional		19
HP:0000504	HP:0000505	Visual impairment	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000504	HP:0000505	Visual impairment	1	SFXN4 CL E G H	119559	16088	OMIM:615578	Combined oxidative phosphorylation deficiency 18	.		17
HP:0000504	HP:0100576	Amaurosis fugax	1	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		4
HP:0000504	HP:0000505	Visual impairment	1	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0000504	HP:0000505	Visual impairment	1	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040283 - Occasional		177
HP:0000504	HP:0000505	Visual impairment	1	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000504	HP:0000505	Visual impairment	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000504	HP:0000505	Visual impairment	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0000504	HP:0000505	Visual impairment	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0000504	HP:0000505	Visual impairment	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0000504	HP:0000505	Visual impairment	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0000504	HP:0000505	Visual impairment	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000504	HP:0000505	Visual impairment	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000504	HP:0000505	Visual impairment	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000504	HP:0000505	Visual impairment	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000504	HP:0000505	Visual impairment	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0000504	HP:0000622	Blurred vision	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0000504	HP:0000622	Blurred vision	1	SLC12A3 CL E G H	6559	10912	OMIM:263800	Gitelman syndrome			145
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000504	HP:0000505	Visual impairment	1	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0000504	HP:0000505	Visual impairment	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0000504	HP:0000505	Visual impairment	1	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6			63
HP:0000504	HP:0000613	Photophobia	1	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6	HP:0040281 - Very frequent		63
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6			63
HP:0000504	HP:0000613	Photophobia	1	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	.		63
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6			63
HP:0000504	HP:0000505	Visual impairment	1	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0000504	HP:0000551	Color vision defect	1	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare		66
HP:0000504	HP:0000662	Nyctalopia	1	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		66
HP:0000504	HP:0000505	Visual impairment	1	SLC24A1 CL E G H	9187	10975	OMIM:613830	Night blindness, congenital stationary, type 1D			66
HP:0000504	HP:0000662	Nyctalopia	1	SLC24A1 CL E G H	9187	10975	OMIM:613830	Night blindness, congenital stationary, type 1D			66
HP:0000504	HP:0000505	Visual impairment	1	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI	.		12
HP:0000504	HP:0000613	Photophobia	1	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI	.		12
HP:0000504	HP:0000505	Visual impairment	1	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6			12
HP:0000504	HP:0000613	Photophobia	1	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6	HP:0040281 - Very frequent		12
HP:0000504	HP:0000505	Visual impairment	1	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria			28
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0000504	HP:0000505	Visual impairment	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0000504	HP:0000505	Visual impairment	1	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000504	HP:0000505	Visual impairment	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9			255
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity			255
HP:0000504	HP:0000505	Visual impairment	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0000504	HP:0000505	Visual impairment	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0000504	HP:0000505	Visual impairment	1	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	.		13
HP:0000504	HP:0000505	Visual impairment	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0000504	HP:0000505	Visual impairment	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040283 - Occasional		55
HP:0000504	HP:0000613	Photophobia	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent		55
HP:0000504	HP:0000505	Visual impairment	1	SLC45A2 CL E G H	51151	16472	OMIM:606574	ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA4			42
HP:0000504	HP:0000505	Visual impairment	1	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4			42
HP:0000504	HP:0000613	Photophobia	1	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040282 - Frequent		42
HP:0000504	HP:0000505	Visual impairment	1	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II			66
HP:0000504	HP:0000622	Blurred vision	1	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II	HP:0040282 - Frequent		66
HP:0000504	HP:0000505	Visual impairment	1	SLC4A11 CL E G H	83959	16438	OMIM:613268	CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD4			66
HP:0000504	HP:0000505	Visual impairment	1	SLC4A11 CL E G H	83959	16438	ORPHA:1490	Corneal dystrophy-perceptive deafness syndrome	HP:0040281 - Very frequent		66
HP:0000504	HP:0000505	Visual impairment	1	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness			66
HP:0000504	HP:0000505	Visual impairment	1	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0000504	HP:0000662	Nyctalopia	1	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0000504	HP:0000505	Visual impairment	1	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2			47
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0000504	HP:0000613	Photophobia	1	SLC6A19 CL E G H	340024	27960	ORPHA:2116	Hartnup disease	HP:0040282 - Frequent		12
HP:0000504	HP:0000505	Visual impairment	1	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000504	HP:0000505	Visual impairment	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000504	HP:0000613	Photophobia	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000504	HP:0000662	Nyctalopia	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0000504	HP:0000505	Visual impairment	1	SLC7A14 CL E G H	57709	29326	OMIM:615725	Retinitis pigmentosa 68			4
HP:0000504	HP:0000662	Nyctalopia	1	SLC7A14 CL E G H	57709	29326	OMIM:615725	Retinitis pigmentosa 68	.		4
HP:0000504	HP:0000505	Visual impairment	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0000504	HP:0000505	Visual impairment	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0000504	HP:0000505	Visual impairment	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0000504	HP:0000505	Visual impairment	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0000504	HP:0000505	Visual impairment	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4			617
HP:0000504	HP:0000505	Visual impairment	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0000504	HP:0000505	Visual impairment	1	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0000504	HP:0000505	Visual impairment	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000504	HP:0000505	Visual impairment	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0000504	HP:0000505	Visual impairment	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0000504	HP:0000505	Visual impairment	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000504	HP:0000505	Visual impairment	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0000504	HP:0000505	Visual impairment	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome			174
HP:0000504	HP:0000505	Visual impairment	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome	.		2
HP:0000504	HP:0000505	Visual impairment	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0000504	HP:0000505	Visual impairment	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease			65
HP:0000504	HP:0000551	Color vision defect	1	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		65
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease			65
HP:0000504	HP:0000505	Visual impairment	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0000504	HP:0000613	Photophobia	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0000504	HP:0000662	Nyctalopia	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0000504	HP:0000505	Visual impairment	1	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33			83
HP:0000504	HP:0000662	Nyctalopia	1	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33			83
HP:0000504	HP:0000505	Visual impairment	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0000504	HP:0000505	Visual impairment	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0000504	HP:0000505	Visual impairment	1	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	HP:0040283 - Occasional		29
HP:0000504	HP:0000505	Visual impairment	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000504	HP:0000505	Visual impairment	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0000504	HP:0000505	Visual impairment	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0000504	HP:0000505	Visual impairment	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0000504	HP:0000622	Blurred vision	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0000504	HP:0000505	Visual impairment	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		61
HP:0000504	HP:0000551	Color vision defect	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		61
HP:0000504	HP:0000505	Visual impairment	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0000504	HP:0000505	Visual impairment	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0000504	HP:0000505	Visual impairment	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent		33
HP:0000504	HP:0000505	Visual impairment	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040281 - Very frequent		24
HP:0000504	HP:0000505	Visual impairment	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	.		19
HP:0000504	HP:0000505	Visual impairment	1	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:0000504	HP:0000505	Visual impairment	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000504	HP:0000505	Visual impairment	1	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis			48
HP:0000504	HP:0000505	Visual impairment	1	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3			48
HP:0000504	HP:0000662	Nyctalopia	1	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3			48
HP:0000504	HP:0000505	Visual impairment	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000504	HP:0000613	Photophobia	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000504	HP:0000662	Nyctalopia	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0000504	HP:0000505	Visual impairment	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		48
HP:0000504	HP:0000551	Color vision defect	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		48
HP:0000504	HP:0000613	Photophobia	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		48
HP:0000504	HP:0000622	Blurred vision	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional		48
HP:0000504	HP:0000662	Nyctalopia	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		48
HP:0000504	HP:0000505	Visual impairment	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0000504	HP:0000505	Visual impairment	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional		287
HP:0000504	HP:0000505	Visual impairment	1	SPG11 CL E G H	80208	11226	OMIM:604360	Spastic paraplegia 11, autosomal recessive	.	HP:0003581 - Adult onset	287
HP:0000504	HP:0000505	Visual impairment	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		5
HP:0000504	HP:0000551	Color vision defect	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		5
HP:0000504	HP:0000505	Visual impairment	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia			126
HP:0000504	HP:0000505	Visual impairment	1	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness			3
HP:0000504	HP:0000505	Visual impairment	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ			80
HP:0000504	HP:0000505	Visual impairment	1	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG			80
HP:0000504	HP:0000613	Photophobia	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0000504	HP:0000505	Visual impairment	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0000504	HP:0000613	Photophobia	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.		1
HP:0000504	HP:0000505	Visual impairment	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0000504	HP:0000613	Photophobia	1	ST14 CL E G H	6768	11344	OMIM:602400	Ichthyosis, congenital, autosomal recessive 11			4
HP:0000504	HP:0000505	Visual impairment	1	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome			47
HP:0000504	HP:0000505	Visual impairment	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000504	HP:0000505	Visual impairment	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000504	HP:0000505	Visual impairment	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0000504	HP:0000613	Photophobia	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		2
HP:0000504	HP:0000505	Visual impairment	1	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis			2
HP:0000504	HP:0011514	Abnormality of binocular vision	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0000504	HP:0000505	Visual impairment	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0000504	HP:0000505	Visual impairment	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0000504	HP:0000505	Visual impairment	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0000504	HP:0000505	Visual impairment	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0000504	HP:0000662	Nyctalopia	1	STIM1 CL E G H	6786	11386	OMIM:160565	Myopathy, tubular aggregate, 1	HP:0040283 - Occasional		31
HP:0000504	HP:0000505	Visual impairment	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0000504	HP:0000505	Visual impairment	1	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent		66
HP:0000504	HP:0000505	Visual impairment	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000504	HP:0000505	Visual impairment	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent		80
HP:0000504	HP:0000505	Visual impairment	1	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0000504	HP:0000505	Visual impairment	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040283 - Occasional		73
HP:0000504	HP:0000505	Visual impairment	1	SYNJ1 CL E G H	8867	11503	OMIM:617389	Epileptic encephalopathy, early infantile, 53	.		9
HP:0000504	HP:0000551	Color vision defect	1	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		9
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease			9
HP:0000504	HP:0000505	Visual impairment	1	SYT1 CL E G H	6857	11509	OMIM:618218	Baker-Gordon syndrome	.		1
HP:0000504	HP:0025152	Poor visual behavior for age	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040282 - Frequent		1
HP:0000504	HP:0011514	Abnormality of binocular vision	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0000504	HP:0000505	Visual impairment	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000504	HP:0000551	Color vision defect	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		34
HP:0000504	HP:0000505	Visual impairment	1	TACSTD2 CL E G H	4070	11530	OMIM:204870	Corneal dystrophy, gelatinous drop-like	.		42
HP:0000504	HP:0000613	Photophobia	1	TACSTD2 CL E G H	4070	11530	OMIM:204870	Corneal dystrophy, gelatinous drop-like	.		42
HP:0000504	HP:0000622	Blurred vision	1	TACSTD2 CL E G H	4070	11530	OMIM:204870	Corneal dystrophy, gelatinous drop-like	.		42
HP:0000504	HP:0000505	Visual impairment	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0000504	HP:0000505	Visual impairment	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000504	HP:0000613	Photophobia	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000504	HP:0000505	Visual impairment	1	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2			43
HP:0000504	HP:0000613	Photophobia	1	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040282 - Frequent		43
HP:0000504	HP:0000505	Visual impairment	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome			15
HP:0000504	HP:0000505	Visual impairment	1	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4			15
HP:0000504	HP:0000505	Visual impairment	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000504	HP:0000505	Visual impairment	1	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16			271
HP:0000504	HP:0025152	Poor visual behavior for age	1	TBC1D24 CL E G H	57465	29203	ORPHA:352596	Progressive myoclonic epilepsy with dystonia	HP:0040283 - Occasional		271
HP:0000504	HP:0000505	Visual impairment	1	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
HP:0000504	HP:0000505	Visual impairment	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0000504	HP:0000505	Visual impairment	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000504	HP:0000505	Visual impairment	1	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0000504	HP:0000662	Nyctalopia	1	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0000504	HP:0000505	Visual impairment	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0000504	HP:0000505	Visual impairment	1	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare		82
HP:0000504	HP:0000505	Visual impairment	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0000504	HP:0000505	Visual impairment	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0000504	HP:0000505	Visual impairment	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent		140
HP:0000504	HP:0000505	Visual impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0000504	HP:0000505	Visual impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0000504	HP:0000505	Visual impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0000504	HP:0000505	Visual impairment	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0000504	HP:0000505	Visual impairment	1	TEK CL E G H	7010	11724	ORPHA:98976	Congenital glaucoma			78
HP:0000504	HP:0000505	Visual impairment	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0000504	HP:0000505	Visual impairment	1	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome			12
HP:0000504	HP:0000505	Visual impairment	1	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0000504	HP:0000505	Visual impairment	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000504	HP:0100576	Amaurosis fugax	1	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		3
HP:0000504	HP:0000505	Visual impairment	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000504	HP:0000505	Visual impairment	1	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive			18
HP:0000504	HP:0011514	Abnormality of binocular vision	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0000504	HP:0000613	Photophobia	1	TGFBI CL E G H	7045	11771	OMIM:602082	Corneal dystrophy of bowman layer, type II	.		58
HP:0000504	HP:0000505	Visual impairment	1	TGFBI CL E G H	7045	11771	OMIM:607541	Corneal dystrophy, Avellino type	.		58
HP:0000504	HP:0000505	Visual impairment	1	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane			58
HP:0000504	HP:0000505	Visual impairment	1	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I			58
HP:0000504	HP:0000505	Visual impairment	1	TGFBI CL E G H	7045	11771	OMIM:608471	Corneal dystrophy, lattice type IIIA	.		58
HP:0000504	HP:0000505	Visual impairment	1	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type			58
HP:0000504	HP:0000613	Photophobia	1	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type			58
HP:0000504	HP:0000505	Visual impairment	1	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I			58
HP:0000504	HP:0000613	Photophobia	1	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I			58
HP:0000504	HP:0000505	Visual impairment	1	TGFBI CL E G H	7045	11771	ORPHA:98963	Granular corneal dystrophy type II			58
HP:0000504	HP:0000622	Blurred vision	1	TGFBI CL E G H	7045	11771	ORPHA:98963	Granular corneal dystrophy type II			58
HP:0000504	HP:0000505	Visual impairment	1	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0000504	HP:0000613	Photophobia	1	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040282 - Frequent		58
HP:0000504	HP:0000505	Visual impairment	1	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy			58
HP:0000504	HP:0000613	Photophobia	1	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy	HP:0040282 - Frequent		58
HP:0000504	HP:0000505	Visual impairment	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0000504	HP:0100576	Amaurosis fugax	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0000504	HP:0000505	Visual impairment	1	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm			1
HP:0000504	HP:0000505	Visual impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0000504	HP:0000505	Visual impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0000504	HP:0000505	Visual impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0000504	HP:0000505	Visual impairment	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0000504	HP:0000505	Visual impairment	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0000504	HP:0000505	Visual impairment	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0000504	HP:0000505	Visual impairment	1	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm			2
HP:0000504	HP:0000505	Visual impairment	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0000504	HP:0000505	Visual impairment	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040282 - Frequent		15
HP:0000504	HP:0000551	Color vision defect	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional		15
HP:0000504	HP:0000613	Photophobia	1	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0000504	HP:0000613	Photophobia	1	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional		15
HP:0000504	HP:0000505	Visual impairment	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0000504	HP:0000505	Visual impairment	1	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy			95
HP:0000504	HP:0000505	Visual impairment	1	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy			95
HP:0000504	HP:0000662	Nyctalopia	1	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040282 - Frequent		95
HP:0000504	HP:0000505	Visual impairment	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		103
HP:0000504	HP:0000551	Color vision defect	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0000504	HP:0000505	Visual impairment	1	TLCD3B CL E G H	83723	25295	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional
HP:0000504	HP:0000551	Color vision defect	1	TLCD3B CL E G H	83723	25295	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent
HP:0000504	HP:0000613	Photophobia	1	TLCD3B CL E G H	83723	25295	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent
HP:0000504	HP:0000662	Nyctalopia	1	TLCD3B CL E G H	83723	25295	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent
HP:0000504	HP:0000505	Visual impairment	1	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0000504	HP:0000613	Photophobia	1	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0000504	HP:0000505	Visual impairment	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0000504	HP:0000613	Photophobia	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040281 - Very frequent		3
HP:0000504	HP:0000505	Visual impairment	1	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000504	HP:0000551	Color vision defect	1	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000504	HP:0000505	Visual impairment	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0000504	HP:0000505	Visual impairment	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		39
HP:0000504	HP:0000505	Visual impairment	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0000504	HP:0000505	Visual impairment	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		45
HP:0000504	HP:0000505	Visual impairment	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		33
HP:0000504	HP:0000505	Visual impairment	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		82
HP:0000504	HP:0011514	Abnormality of binocular vision	1	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21			9
HP:0000504	HP:0000505	Visual impairment	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000504	HP:0000505	Visual impairment	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0000504	HP:0000505	Visual impairment	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent		166
HP:0000504	HP:0000505	Visual impairment	1	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4	HP:0040283 - Occasional		3
HP:0000504	HP:0000613	Photophobia	1	TNF CL E G H	7124	11892	OMIM:157300	Migraine with or without aura, susceptibility to, 1	.		7
HP:0000504	HP:0000505	Visual impairment	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0000504	HP:0000505	Visual impairment	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0000504	HP:0000505	Visual impairment	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0000504	HP:0011514	Abnormality of binocular vision	1	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
HP:0000504	HP:0000505	Visual impairment	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0000504	HP:0000613	Photophobia	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0000504	HP:0000662	Nyctalopia	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0000504	HP:0000505	Visual impairment	1	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31			61
HP:0000504	HP:0000505	Visual impairment	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040283 - Occasional		911
HP:0000504	HP:0100576	Amaurosis fugax	1	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent		911
HP:0000504	HP:0000505	Visual impairment	1	TP53 CL E G H	7157	11998	ORPHA:2807	Papilloma of choroid plexus	HP:0040283 - Occasional		911
HP:0000504	HP:0000505	Visual impairment	1	TP53RK CL E G H	112858	16197	OMIM:617730	Galloway-Mowat syndrome 4	.
HP:0000504	HP:0000613	Photophobia	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.		140
HP:0000504	HP:0000613	Photophobia	1	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040282 - Frequent		140
HP:0000504	HP:0000505	Visual impairment	1	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2			203
HP:0000504	HP:0011514	Abnormality of binocular vision	1	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia			203
HP:0000504	HP:0011514	Abnormality of binocular vision	1	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7			203
HP:0000504	HP:0000505	Visual impairment	1	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		6
HP:0000504	HP:0000505	Visual impairment	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0000504	HP:0000505	Visual impairment	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000504	HP:0000505	Visual impairment	1	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040282 - Frequent		27
HP:0000504	HP:0000505	Visual impairment	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0000504	HP:0000505	Visual impairment	1	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity			2
HP:0000504	HP:0000505	Visual impairment	1	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis
HP:0000504	HP:0000662	Nyctalopia	1	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome			158
HP:0000504	HP:0000505	Visual impairment	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0000504	HP:0000505	Visual impairment	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0000504	HP:0000505	Visual impairment	1	TRIM44 CL E G H	54765	19016	OMIM:617142	Aniridia 3			1
HP:0000504	HP:0000505	Visual impairment	1	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia			1
HP:0000504	HP:0000505	Visual impairment	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0000504	HP:0000505	Visual impairment	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0000504	HP:0000505	Visual impairment	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0000504	HP:0000505	Visual impairment	1	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0000504	HP:0000505	Visual impairment	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0000504	HP:0000505	Visual impairment	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0000504	HP:0000505	Visual impairment	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0000504	HP:0000505	Visual impairment	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000504	HP:0000662	Nyctalopia	1	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000504	HP:0000505	Visual impairment	1	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0000504	HP:0000662	Nyctalopia	1	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0000504	HP:0000505	Visual impairment	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0000504	HP:0000505	Visual impairment	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0000505	Visual impairment	1	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0000504	HP:0000551	Color vision defect	1	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040284 - Very rare		104
HP:0000504	HP:0000662	Nyctalopia	1	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		104
HP:0000504	HP:0000505	Visual impairment	1	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000504	HP:0000662	Nyctalopia	1	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000504	HP:0000505	Visual impairment	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0000504	HP:0000505	Visual impairment	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2			3
HP:0000504	HP:0000505	Visual impairment	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2			84
HP:0000504	HP:0000505	Visual impairment	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.		84
HP:0000504	HP:0000505	Visual impairment	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2			57
HP:0000504	HP:0000505	Visual impairment	1	TSEN34 CL E G H	79042	15506	OMIM:612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C			57
HP:0000504	HP:0000505	Visual impairment	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2			102
HP:0000504	HP:0000505	Visual impairment	1	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.		102
HP:0000504	HP:0000505	Visual impairment	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0000504	HP:0000505	Visual impairment	1	TSPAN12 CL E G H	23554	21641	OMIM:613310	Exudative vitreoretinopathy 5	HP:0040283 - Occasional		39
HP:0000504	HP:0000505	Visual impairment	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0000504	HP:0100832	Vitreous floaters	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000504	HP:0000505	Visual impairment	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0000504	HP:0000613	Photophobia	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0000504	HP:0000662	Nyctalopia	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0000504	HP:0000505	Visual impairment	1	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.		41
HP:0000504	HP:0000613	Photophobia	1	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.		41
HP:0000504	HP:0000662	Nyctalopia	1	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.		41
HP:0000504	HP:0000505	Visual impairment	1	TTLL5 CL E G H	23093	19963	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		9
HP:0000504	HP:0000551	Color vision defect	1	TTLL5 CL E G H	23093	19963	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		9
HP:0000504	HP:0000613	Photophobia	1	TTLL5 CL E G H	23093	19963	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		9
HP:0000504	HP:0000662	Nyctalopia	1	TTLL5 CL E G H	23093	19963	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		9
HP:0000504	HP:0000505	Visual impairment	1	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0000504	HP:0000505	Visual impairment	1	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040283 - Occasional		62
HP:0000504	HP:0000662	Nyctalopia	1	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040282 - Frequent		62
HP:0000504	HP:0000505	Visual impairment	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0000504	HP:0100832	Vitreous floaters	1	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis	HP:0040282 - Frequent		107
HP:0000504	HP:0000505	Visual impairment	1	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity	.		1
HP:0000504	HP:0000505	Visual impairment	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000504	HP:0000613	Photophobia	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000504	HP:0000662	Nyctalopia	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0000504	HP:0000505	Visual impairment	1	TUBA3D CL E G H	113457	24071	OMIM:617928	Keratoconus 9
HP:0000504	HP:0000505	Visual impairment	1	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation			39
HP:0000504	HP:0000505	Visual impairment	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000504	HP:0000505	Visual impairment	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000504	HP:0000505	Visual impairment	1	TUBB4A CL E G H	10382	20774	OMIM:612438	Leukodystrophy, hypomyelinating, 6	.		66
HP:0000504	HP:0000505	Visual impairment	1	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0000504	HP:0000505	Visual impairment	1	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000504	HP:0000613	Photophobia	1	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness
HP:0000504	HP:0000505	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:0000504	HP:0000505	Visual impairment	1	TUBGCP4 CL E G H	27229	16691	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		14
HP:0000504	HP:0000505	Visual impairment	1	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3	.		14
HP:0000504	HP:0000505	Visual impairment	1	TUBGCP6 CL E G H	85378	18127	ORPHA:2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	HP:0040282 - Frequent		61
HP:0000504	HP:0000505	Visual impairment	1	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1	.		61
HP:0000504	HP:0000505	Visual impairment	1	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis			66
HP:0000504	HP:0000505	Visual impairment	1	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.		66
HP:0000504	HP:0000551	Color vision defect	1	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.		66
HP:0000504	HP:0000662	Nyctalopia	1	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.		66
HP:0000504	HP:0000505	Visual impairment	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0000504	HP:0000613	Photophobia	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0000504	HP:0000662	Nyctalopia	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0000504	HP:0000505	Visual impairment	1	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000504	HP:0000662	Nyctalopia	1	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000504	HP:0000505	Visual impairment	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000504	HP:0000505	Visual impairment	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent		7
HP:0000504	HP:0000505	Visual impairment	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0000504	HP:0011514	Abnormality of binocular vision	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0000504	HP:0000505	Visual impairment	1	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0000504	HP:0000613	Photophobia	1	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0000504	HP:0000505	Visual impairment	1	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB	.		146
HP:0000504	HP:0000613	Photophobia	1	TYR CL E G H	7299	12442	OMIM:606952	Albinism, oculocutaneous, type IB	.		146
HP:0000504	HP:0000505	Visual impairment	1	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040282 - Frequent		146
HP:0000504	HP:0000613	Photophobia	1	TYR CL E G H	7299	12442	ORPHA:79431	Oculocutaneous albinism type 1A	HP:0040281 - Very frequent		146
HP:0000504	HP:0000505	Visual impairment	1	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040282 - Frequent		146
HP:0000504	HP:0000613	Photophobia	1	TYR CL E G H	7299	12442	ORPHA:79434	Oculocutaneous albinism type 1B	HP:0040282 - Frequent		146
HP:0000504	HP:0000505	Visual impairment	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0000504	HP:0000613	Photophobia	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040281 - Very frequent
HP:0000504	HP:0000505	Visual impairment	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0000504	HP:0000505	Visual impairment	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0000504	HP:0000505	Visual impairment	1	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0000504	HP:0000551	Color vision defect	1	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		21
HP:0000504	HP:0011514	Abnormality of binocular vision	1	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease			21
HP:0000504	HP:0000505	Visual impairment	1	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0000504	HP:0000505	Visual impairment	1	UNC119 CL E G H	9094	12565	ORPHA:1872	Cone rod dystrophy	HP:0040283 - Occasional		30
HP:0000504	HP:0000551	Color vision defect	1	UNC119 CL E G H	9094	12565	ORPHA:1872	Cone rod dystrophy	HP:0040282 - Frequent		30
HP:0000504	HP:0000613	Photophobia	1	UNC119 CL E G H	9094	12565	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		30
HP:0000504	HP:0000662	Nyctalopia	1	UNC119 CL E G H	9094	12565	ORPHA:1872	Cone rod dystrophy	HP:0040281 - Very frequent		30
HP:0000504	HP:0000505	Visual impairment	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0000504	HP:0000505	Visual impairment	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0000504	HP:0000505	Visual impairment	1	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000504	HP:0000662	Nyctalopia	1	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0000504	HP:0000505	Visual impairment	1	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I			173
HP:0000504	HP:0000505	Visual impairment	1	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000504	HP:0000662	Nyctalopia	1	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0000504	HP:0000505	Visual impairment	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0000504	HP:0000613	Photophobia	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0000504	HP:0000662	Nyctalopia	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0000504	HP:0000505	Visual impairment	1	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39	.		777
HP:0000504	HP:0000505	Visual impairment	1	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000504	HP:0000662	Nyctalopia	1	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		777
HP:0000504	HP:0000505	Visual impairment	1	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0000504	HP:0000505	Visual impairment	1	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0000504	HP:0000505	Visual impairment	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040283 - Occasional		1
HP:0000504	HP:0000505	Visual impairment	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040283 - Occasional		7
HP:0000504	HP:0011514	Abnormality of binocular vision	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0000504	HP:0000505	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:0000504	HP:0000505	Visual impairment	1	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy			180
HP:0000504	HP:0000505	Visual impairment	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0000504	HP:0000505	Visual impairment	1	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0000504	HP:0000505	Visual impairment	1	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy			1
HP:0000504	HP:0000505	Visual impairment	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0000504	HP:0000662	Nyctalopia	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0000504	HP:0000551	Color vision defect	1	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040283 - Occasional		8
HP:0000504	HP:0011514	Abnormality of binocular vision	1	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease			8
HP:0000504	HP:0011514	Abnormality of binocular vision	1	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease			37
HP:0000504	HP:0000505	Visual impairment	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000505	Visual impairment	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0000504	HP:0000505	Visual impairment	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000504	HP:0000505	Visual impairment	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000504	HP:0000505	Visual impairment	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000504	HP:0000505	Visual impairment	1	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy			47
HP:0000504	HP:0000613	Photophobia	1	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		47
HP:0000504	HP:0000622	Blurred vision	1	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		47
HP:0000504	HP:0000505	Visual impairment	1	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:0000504	HP:0000505	Visual impairment	1	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation			20
HP:0000504	HP:0000505	Visual impairment	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:0000504	HP:0000505	Visual impairment	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000504	HP:0000505	Visual impairment	1	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000504	HP:0000505	Visual impairment	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		10
HP:0000504	HP:0000551	Color vision defect	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional		10
HP:0000504	HP:0000505	Visual impairment	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0000504	HP:0000662	Nyctalopia	1	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4			95
HP:0000504	HP:0000505	Visual impairment	1	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040281 - Very frequent		95
HP:0000504	HP:0000505	Visual impairment	1	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8	.		95
HP:0000504	HP:0000505	Visual impairment	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0000504	HP:0000505	Visual impairment	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0000504	HP:0000613	Photophobia	1	WDR45 CL E G H	11152	28912	OMIM:615179	Albinism, oculocutaneous, type V	.		51
HP:0000504	HP:0000505	Visual impairment	1	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.		1
HP:0000504	HP:0000505	Visual impairment	1	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000504	HP:0000505	Visual impairment	1	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000504	HP:0000662	Nyctalopia	1	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		155
HP:0000504	HP:0000505	Visual impairment	1	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID			155
HP:0000504	HP:0000613	Photophobia	1	WNT10A CL E G H	80326	13829	OMIM:257980	Odontoonychodermal dysplasia			71
HP:0000504	HP:0000613	Photophobia	1	WNT10A CL E G H	80326	13829	OMIM:150400	Tooth agenesis, selective, 4			71
HP:0000504	HP:0000505	Visual impairment	1	WT1 CL E G H	7490	12796	ORPHA:893	WAGR syndrome	HP:0040282 - Frequent		177
HP:0000504	HP:0000613	Photophobia	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		34
HP:0000504	HP:0000613	Photophobia	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.		34
HP:0000504	HP:0000613	Photophobia	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional		86
HP:0000504	HP:0000613	Photophobia	1	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.		86
HP:0000504	HP:0000505	Visual impairment	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0000504	HP:0000505	Visual impairment	1	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0000504	HP:0000505	Visual impairment	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0000504	HP:0000505	Visual impairment	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0000504	HP:0000505	Visual impairment	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0000504	HP:0000505	Visual impairment	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000504	HP:0000505	Visual impairment	1	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040283 - Occasional		2
HP:0000504	HP:0000505	Visual impairment	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000504	HP:0000662	Nyctalopia	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000504	HP:0100576	Amaurosis fugax	1	YEATS2 CL E G H	55689	25489	ORPHA:86814	Benign adult familial myoclonic epilepsy	HP:0040283 - Occasional		1
HP:0000504	HP:0000505	Visual impairment	1	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0000504	HP:0000505	Visual impairment	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0000504	HP:0000505	Visual impairment	1	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6			8
HP:0000504	HP:0000505	Visual impairment	1	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0000504	HP:0000662	Nyctalopia	1	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0000504	HP:0000505	Visual impairment	1	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy			8
HP:0000504	HP:0000613	Photophobia	1	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		8
HP:0000504	HP:0000622	Blurred vision	1	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040284 - Very rare		8
HP:0000504	HP:0000505	Visual impairment	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0000504	HP:0000505	Visual impairment	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000504	HP:0000505	Visual impairment	1	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.		189
HP:0000504	HP:0000505	Visual impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0000504	HP:0000505	Visual impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0000504	HP:0000505	Visual impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0000504	HP:0000505	Visual impairment	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0000504	HP:0000505	Visual impairment	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000504	HP:0000505	Visual impairment	1	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6			14
HP:0000504	HP:0000505	Visual impairment	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0000504	HP:0100832	Vitreous floaters	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0000504	HP:0000505	Visual impairment	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000504	HP:0000613	Photophobia	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000504	HP:0000662	Nyctalopia	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0000504	HP:0000505	Visual impairment	1	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72			14
HP:0000504	HP:0000613	Photophobia	1	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72	.		14
HP:0000504	HP:0000662	Nyctalopia	1	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72	.		14
HP:0000504	HP:0000505	Visual impairment	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		49
HP:0000504	HP:0000505	Visual impairment	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0000504	HP:0000505	Visual impairment	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0000504	HP:0000505	Visual impairment	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0000504	HP:0000613	Photophobia	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0000504	HP:0000662	Nyctalopia	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0000504	HP:0000505	Visual impairment	1	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0000504	HP:0000662	Nyctalopia	1	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.		27
HP:0000504	HP:0000505	Visual impairment	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0000504	HP:0000662	Nyctalopia	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0000504	HP:0011515	Abnormal stereopsis	2	CL E G H
HP:0000504	HP:0030514	Difficulty adjusting from dark to light	2	CL E G H
HP:0000504	HP:0030832	Vitreous strands	2	CL E G H
HP:0000504	HP:0032108	Mildly reduced contrast sensitivity	2	CL E G H
HP:0000504	HP:0032109	Moderately reduced contrast sensitivity	2	CL E G H
HP:0000504	HP:0032110	Severely reduced contrast sensitivity	2	CL E G H
HP:0000504	HP:0032111	Abnormal Vistech contrast sensitivity test	2	CL E G H
HP:0000504	HP:0032112	Abnormal Pelli Robson contrast sensitivity chart test	2	CL E G H
HP:0000504	HP:0001123	Visual field defect	2	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0000504	HP:0000572	Visual loss	2	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000504	HP:0001123	Visual field defect	2	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000504	HP:0007663	Reduced visual acuity	2	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0000504	HP:0007675	Progressive night blindness	2	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0000504	HP:0001123	Visual field defect	2	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19			826
HP:0000504	HP:0007663	Reduced visual acuity	2	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19	.		826
HP:0000504	HP:0001123	Visual field defect	2	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease			826
HP:0000504	HP:0007663	Reduced visual acuity	2	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040280 - Obligate		826
HP:0000504	HP:0007663	Reduced visual acuity	2	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.		415
HP:0000504	HP:0007663	Reduced visual acuity	2	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0000504	HP:0000572	Visual loss	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0000504	HP:0007663	Reduced visual acuity	2	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0000504	HP:0007663	Reduced visual acuity	2	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0000504	HP:0001123	Visual field defect	2	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9			60
HP:0000504	HP:0007641	Dyschromatopsia	2	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9			60
HP:0000504	HP:0007663	Reduced visual acuity	2	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9	.		60
HP:0000504	HP:0007663	Reduced visual acuity	2	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0000504	HP:0007663	Reduced visual acuity	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0000504	HP:0001123	Visual field defect	2	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040282 - Frequent		22
HP:0000504	HP:0000572	Visual loss	2	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		63
HP:0000504	HP:0007663	Reduced visual acuity	2	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0000504	HP:0007663	Reduced visual acuity	2	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis			84
HP:0000504	HP:0100704	Cerebral visual impairment	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0000504	HP:0000572	Visual loss	2	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		530
HP:0000504	HP:0001123	Visual field defect	2	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2			530
HP:0000504	HP:0100704	Cerebral visual impairment	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional		47
HP:0000504	HP:0007663	Reduced visual acuity	2	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0000504	HP:0000651	Diplopia	2	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0000504	HP:0100704	Cerebral visual impairment	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0000504	HP:0007663	Reduced visual acuity	2	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:0000504	HP:0007641	Dyschromatopsia	2	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12			86
HP:0000504	HP:0007663	Reduced visual acuity	2	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12			86
HP:0000504	HP:0030584	Color vision test abnormality	2	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12			86
HP:0000504	HP:0000572	Visual loss	2	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000504	HP:0007663	Reduced visual acuity	2	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000504	HP:0007663	Reduced visual acuity	2	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0000504	HP:0007675	Progressive night blindness	2	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000504	HP:0001123	Visual field defect	2	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75			2
HP:0000504	HP:0000651	Diplopia	2	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		127
HP:0000504	HP:0000651	Diplopia	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0000504	HP:0000572	Visual loss	2	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000504	HP:0100704	Cerebral visual impairment	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional		36
HP:0000504	HP:0000572	Visual loss	2	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		175
HP:0000504	HP:0007663	Reduced visual acuity	2	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0000504	HP:0007675	Progressive night blindness	2	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0000504	HP:0007663	Reduced visual acuity	2	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0000504	HP:0007675	Progressive night blindness	2	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000504	HP:0007663	Reduced visual acuity	2	AHR CL E G H	196	348	OMIM:618345	RETINITIS PIGMENTOSA 85; RP85			2
HP:0000504	HP:0007675	Progressive night blindness	2	AHR CL E G H	196	348	OMIM:618345	RETINITIS PIGMENTOSA 85; RP85			2
HP:0000504	HP:0000572	Visual loss	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000504	HP:0000651	Diplopia	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0000504	HP:0001123	Visual field defect	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000504	HP:0007663	Reduced visual acuity	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0000504	HP:0007663	Reduced visual acuity	2	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis			114
HP:0000504	HP:0007663	Reduced visual acuity	2	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.		114
HP:0000504	HP:0001123	Visual field defect	2	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa			114
HP:0000504	HP:0001123	Visual field defect	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000504	HP:0007663	Reduced visual acuity	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000504	HP:0000651	Diplopia	2	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		1
HP:0000504	HP:0000572	Visual loss	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000504	HP:0001123	Visual field defect	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000504	HP:0007663	Reduced visual acuity	2	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000504	HP:0001123	Visual field defect	2	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly			19
HP:0000504	HP:0007663	Reduced visual acuity	2	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0000504	HP:0007663	Reduced visual acuity	2	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0000504	HP:0000572	Visual loss	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0000504	HP:0001123	Visual field defect	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0000504	HP:0007663	Reduced visual acuity	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0000504	HP:0000572	Visual loss	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000504	HP:0001123	Visual field defect	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000504	HP:0007663	Reduced visual acuity	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0000504	HP:0000572	Visual loss	2	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss	.
HP:0000504	HP:0001123	Visual field defect	2	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency			44
HP:0000504	HP:0001123	Visual field defect	2	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0000504	HP:0100704	Cerebral visual impairment	2	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.		21
HP:0000504	HP:0001123	Visual field defect	2	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent
HP:0000504	HP:0000572	Visual loss	2	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000504	HP:0007663	Reduced visual acuity	2	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000504	HP:0000651	Diplopia	2	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040283 - Occasional		64
HP:0000504	HP:0007663	Reduced visual acuity	2	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000504	HP:0007663	Reduced visual acuity	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0000504	HP:0007663	Reduced visual acuity	2	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0000504	HP:0007663	Reduced visual acuity	2	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0000504	HP:0007663	Reduced visual acuity	2	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0000504	HP:0007663	Reduced visual acuity	2	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0000504	HP:0007663	Reduced visual acuity	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0000504	HP:0000572	Visual loss	2	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1			39
HP:0000504	HP:0100704	Cerebral visual impairment	2	ARHGDIA CL E G H	396	678	OMIM:615244	Nephrotic syndrome, type 8	.		3
HP:0000504	HP:0007663	Reduced visual acuity	2	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0000504	HP:0007675	Progressive night blindness	2	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0000504	HP:0001123	Visual field defect	2	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78	.		6
HP:0000504	HP:0007663	Reduced visual acuity	2	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78	.		6
HP:0000504	HP:0007663	Reduced visual acuity	2	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0000504	HP:0007663	Reduced visual acuity	2	ARL2 CL E G H	402	693	OMIM:619082	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0000504	HP:0007663	Reduced visual acuity	2	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0000504	HP:0007675	Progressive night blindness	2	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000504	HP:0007663	Reduced visual acuity	2	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus	.		3
HP:0000504	HP:0000572	Visual loss	2	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000504	HP:0007663	Reduced visual acuity	2	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0000504	HP:0007675	Progressive night blindness	2	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000504	HP:0001123	Visual field defect	2	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0000504	HP:0007663	Reduced visual acuity	2	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0000504	HP:0001123	Visual field defect	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000504	HP:0007663	Reduced visual acuity	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000504	HP:0001123	Visual field defect	2	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa			29
HP:0000504	HP:0007663	Reduced visual acuity	2	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0000504	HP:0007675	Progressive night blindness	2	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0000504	HP:0007663	Reduced visual acuity	2	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0000504	HP:0007663	Reduced visual acuity	2	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0000504	HP:0100704	Cerebral visual impairment	2	ARPC4 CL E G H	10093	707	OMIM:620141
HP:0000504	HP:0007663	Reduced visual acuity	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		253
HP:0000504	HP:0007663	Reduced visual acuity	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		253
HP:0000504	HP:0007663	Reduced visual acuity	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		253
HP:0000504	HP:0000572	Visual loss	2	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000504	HP:0001123	Visual field defect	2	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3
HP:0000504	HP:0001123	Visual field defect	2	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000504	HP:0001123	Visual field defect	2	ASB10 CL E G H	136371	17185	OMIM:603383	GLAUCOMA 1, OPEN ANGLE, F; GLC1F			54
HP:0000504	HP:0100704	Cerebral visual impairment	2	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.		17
HP:0000504	HP:0007663	Reduced visual acuity	2	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000504	HP:0007663	Reduced visual acuity	2	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0000504	HP:0007663	Reduced visual acuity	2	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs			4
HP:0000504	HP:0001123	Visual field defect	2	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0000504	HP:0007663	Reduced visual acuity	2	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		10
HP:0000504	HP:0007803	Monochromacy	2	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		10
HP:0000504	HP:0030584	Color vision test abnormality	2	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		10
HP:0000504	HP:0001123	Visual field defect	2	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000504	HP:0007663	Reduced visual acuity	2	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000504	HP:0007803	Monochromacy	2	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000504	HP:0007663	Reduced visual acuity	2	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0000504	HP:0007663	Reduced visual acuity	2	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0000504	HP:0100704	Cerebral visual impairment	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.		16
HP:0000504	HP:0007663	Reduced visual acuity	2	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000504	HP:0007663	Reduced visual acuity	2	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000504	HP:0000651	Diplopia	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		239
HP:0000504	HP:0001123	Visual field defect	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0000504	HP:0000651	Diplopia	2	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.		239
HP:0000504	HP:0001125	Transient unilateral blurring of vision	2	ATP1A2 CL E G H	477	800	OMIM:602481	Migraine, familial hemiplegic, 2	.		239
HP:0000504	HP:0000572	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:0000504	HP:0007663	Reduced visual acuity	2	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0000504	HP:0000572	Visual loss	2	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0001123	Visual field defect	2	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000572	Visual loss	2	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0001123	Visual field defect	2	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0001123	Visual field defect	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0000504	HP:0007663	Reduced visual acuity	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0000504	HP:0007663	Reduced visual acuity	2	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0000504	HP:0007663	Reduced visual acuity	2	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0000504	HP:0001123	Visual field defect	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0000504	HP:0000651	Diplopia	2	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0000504	HP:0000651	Diplopia	2	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent		14
HP:0000504	HP:0000651	Diplopia	2	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent		14
HP:0000504	HP:0000651	Diplopia	2	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent		14
HP:0000504	HP:0000572	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:0000504	HP:0000572	Visual loss	2	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0000504	HP:0007663	Reduced visual acuity	2	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0000504	HP:0007663	Reduced visual acuity	2	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11			43
HP:0000504	HP:0007663	Reduced visual acuity	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:0000504	HP:0007663	Reduced visual acuity	2	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0000504	HP:0000572	Visual loss	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000504	HP:0001123	Visual field defect	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000504	HP:0007663	Reduced visual acuity	2	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000504	HP:0000572	Visual loss	2	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		184
HP:0000504	HP:0001123	Visual field defect	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000504	HP:0007663	Reduced visual acuity	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000504	HP:0007663	Reduced visual acuity	2	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0000504	HP:0007675	Progressive night blindness	2	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0000504	HP:0007663	Reduced visual acuity	2	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0000504	HP:0007675	Progressive night blindness	2	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0000504	HP:0001123	Visual field defect	2	BBS2 CL E G H	583	967	OMIM:616562	Retinitis pigmentosa 74			97
HP:0000504	HP:0007663	Reduced visual acuity	2	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5			25
HP:0000504	HP:0007663	Reduced visual acuity	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0000504	HP:0000572	Visual loss	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.		101
HP:0000504	HP:0001123	Visual field defect	2	BEST1 CL E G H	7439	12703	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		182
HP:0000504	HP:0001123	Visual field defect	2	BEST1 CL E G H	7439	12703	ORPHA:1243	Best vitelliform macular dystrophy	HP:0040283 - Occasional		182
HP:0000504	HP:0007663	Reduced visual acuity	2	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0000504	HP:0007663	Reduced visual acuity	2	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2	.		182
HP:0000504	HP:0007663	Reduced visual acuity	2	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0000504	HP:0007675	Progressive night blindness	2	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0000504	HP:0007663	Reduced visual acuity	2	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50			182
HP:0000504	HP:0007641	Dyschromatopsia	2	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	HP:0040283 - Occasional		182
HP:0000504	HP:0007663	Reduced visual acuity	2	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY			182
HP:0000504	HP:0007663	Reduced visual acuity	2	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0000504	HP:0007663	Reduced visual acuity	2	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0000504	HP:0007663	Reduced visual acuity	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000504	HP:0001123	Visual field defect	2	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0000504	HP:0000572	Visual loss	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000504	HP:0100704	Cerebral visual impairment	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0000504	HP:0000572	Visual loss	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000504	HP:0001123	Visual field defect	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000504	HP:0007663	Reduced visual acuity	2	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000504	HP:0001123	Visual field defect	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0000504	HP:0100704	Cerebral visual impairment	2	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal			20
HP:0000504	HP:0000572	Visual loss	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0000504	HP:0001123	Visual field defect	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0000504	HP:0000572	Visual loss	2	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0000504	HP:0007663	Reduced visual acuity	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0000504	HP:0000572	Visual loss	2	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4			114
HP:0000504	HP:0007663	Reduced visual acuity	2	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0000504	HP:0000572	Visual loss	2	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent		20
HP:0000504	HP:0000572	Visual loss	2	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration	.		20
HP:0000504	HP:0001123	Visual field defect	2	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration			20
HP:0000504	HP:0007641	Dyschromatopsia	2	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000504	HP:0007663	Reduced visual acuity	2	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000504	HP:0007663	Reduced visual acuity	2	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration			20
HP:0000504	HP:0007830	Adult-onset night blindness	2	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration	.		20
HP:0000504	HP:0007663	Reduced visual acuity	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0000504	HP:0000572	Visual loss	2	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.		29
HP:0000504	HP:0007663	Reduced visual acuity	2	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0000504	HP:0007675	Progressive night blindness	2	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0000504	HP:0007642	Congenital stationary night blindness	2	CABP4 CL E G H	57010	1386	OMIM:610427	Cone-Rod synaptic disorder, congenital nonprogressive			94
HP:0000504	HP:0007642	Congenital stationary night blindness	2	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness			94
HP:0000504	HP:0007663	Reduced visual acuity	2	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		94
HP:0000504	HP:0000651	Diplopia	2	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.		449
HP:0000504	HP:0000651	Diplopia	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		449
HP:0000504	HP:0001123	Visual field defect	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0000504	HP:0000651	Diplopia	2	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia	HP:0040282 - Frequent		449
HP:0000504	HP:0001125	Transient unilateral blurring of vision	2	CACNA1A CL E G H	773	1388	OMIM:141500	Migraine, familial hemiplegic, 1	.		449
HP:0000504	HP:0000651	Diplopia	2	CACNA1A CL E G H	773	1388	ORPHA:98758	Spinocerebellar ataxia type 6	HP:0040282 - Frequent		449
HP:0000504	HP:0100704	Cerebral visual impairment	2	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.		5
HP:0000504	HP:0100704	Cerebral visual impairment	2	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional		51
HP:0000504	HP:0100704	Cerebral visual impairment	2	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent		51
HP:0000504	HP:0100704	Cerebral visual impairment	2	CACNA1E CL E G H	777	1392	OMIM:618285	Developmental and epileptic encephalopathy 69	.		11
HP:0000504	HP:0007663	Reduced visual acuity	2	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease			58
HP:0000504	HP:0007663	Reduced visual acuity	2	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent		58
HP:0000504	HP:0030513	Difficulty adjusting from light to dark	2	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent		58
HP:0000504	HP:0001123	Visual field defect	2	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000504	HP:0007663	Reduced visual acuity	2	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3	.		58
HP:0000504	HP:0007642	Congenital stationary night blindness	2	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness			58
HP:0000504	HP:0007663	Reduced visual acuity	2	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		58
HP:0000504	HP:0007642	Congenital stationary night blindness	2	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A	.		58
HP:0000504	HP:0007663	Reduced visual acuity	2	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A	.		58
HP:0000504	HP:0000651	Diplopia	2	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42			32
HP:0000504	HP:0000651	Diplopia	2	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040283 - Occasional		32
HP:0000504	HP:0007642	Congenital stationary night blindness	2	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness			129
HP:0000504	HP:0007663	Reduced visual acuity	2	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		129
HP:0000504	HP:0001123	Visual field defect	2	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4			129
HP:0000504	HP:0007663	Reduced visual acuity	2	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4	.		129
HP:0000504	HP:0007663	Reduced visual acuity	2	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory			6
HP:0000504	HP:0000572	Visual loss	2	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0000504	HP:0007663	Reduced visual acuity	2	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0000504	HP:0100704	Cerebral visual impairment	2	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0000504	HP:0007663	Reduced visual acuity	2	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0000504	HP:0001123	Visual field defect	2	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93			247
HP:0000504	HP:0007663	Reduced visual acuity	2	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93			247
HP:0000504	HP:0001123	Visual field defect	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000504	HP:0007663	Reduced visual acuity	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000504	HP:0100704	Cerebral visual impairment	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	.
HP:0000504	HP:0000572	Visual loss	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0000504	HP:0007663	Reduced visual acuity	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0000504	HP:0007663	Reduced visual acuity	2	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0000504	HP:0000572	Visual loss	2	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0000504	HP:0007663	Reduced visual acuity	2	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0000504	HP:0007663	Reduced visual acuity	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0000504	HP:0007663	Reduced visual acuity	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000504	HP:0001123	Visual field defect	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0000504	HP:0000572	Visual loss	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000504	HP:0000651	Diplopia	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0000504	HP:0001123	Visual field defect	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000504	HP:0007663	Reduced visual acuity	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0000504	HP:0000572	Visual loss	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000504	HP:0000651	Diplopia	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000504	HP:0001123	Visual field defect	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000504	HP:0007663	Reduced visual acuity	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0000504	HP:0000572	Visual loss	2	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0000504	HP:0001123	Visual field defect	2	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1			636
HP:0000504	HP:0007663	Reduced visual acuity	2	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0000504	HP:0007663	Reduced visual acuity	2	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0000504	HP:0000572	Visual loss	2	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000504	HP:0001123	Visual field defect	2	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000504	HP:0007663	Reduced visual acuity	2	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0000504	HP:0007675	Progressive night blindness	2	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0000504	HP:0100704	Cerebral visual impairment	2	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2			405
HP:0000504	HP:0100704	Cerebral visual impairment	2	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0000504	HP:0100704	Cerebral visual impairment	2	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0000504	HP:0100704	Cerebral visual impairment	2	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		200
HP:0000504	HP:0100704	Cerebral visual impairment	2	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		200
HP:0000504	HP:0000572	Visual loss	2	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		7
HP:0000504	HP:0007663	Reduced visual acuity	2	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15			34
HP:0000504	HP:0000572	Visual loss	2	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0000504	HP:0007663	Reduced visual acuity	2	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0000504	HP:0007663	Reduced visual acuity	2	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0000504	HP:0007663	Reduced visual acuity	2	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0000504	HP:0007663	Reduced visual acuity	2	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis			342
HP:0000504	HP:0000572	Visual loss	2	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0000504	HP:0007663	Reduced visual acuity	2	CEP290 CL E G H	80184	29021	OMIM:610189	Senior-Loken syndrome 6	.		342
HP:0000504	HP:0000572	Visual loss	2	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		90
HP:0000504	HP:0007641	Dyschromatopsia	2	CEP78 CL E G H	84131	25740	OMIM:617236	CONE-ROD DYSTROPHY AND HEARING LOSS; CRDHL			9
HP:0000504	HP:0000572	Visual loss	2	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		9
HP:0000504	HP:0001123	Visual field defect	2	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3			9
HP:0000504	HP:0100704	Cerebral visual impairment	2	CEP85L CL E G H	387119	21638	OMIM:618873	LISSENCEPHALY 10; LIS10			1
HP:0000504	HP:0100704	Cerebral visual impairment	2	CEP85L CL E G H	387119	21638	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			1
HP:0000504	HP:0007663	Reduced visual acuity	2	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0000504	HP:0007675	Progressive night blindness	2	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0000504	HP:0001123	Visual field defect	2	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0000504	HP:0100704	Cerebral visual impairment	2	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0000504	HP:0001123	Visual field defect	2	CFAP410 CL E G H	755	1260	OMIM:617547	Retinal dystrophy with or without macular staphyloma
HP:0000504	HP:0001123	Visual field defect	2	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000504	HP:0007663	Reduced visual acuity	2	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000504	HP:0000572	Visual loss	2	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000504	HP:0007663	Reduced visual acuity	2	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000504	HP:0001123	Visual field defect	2	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa
HP:0000504	HP:0007663	Reduced visual acuity	2	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0000504	HP:0007675	Progressive night blindness	2	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000572	Visual loss	2	CFH CL E G H	3075	4883	OMIM:126700	Basal laminar drusen			86
HP:0000504	HP:0000572	Visual loss	2	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent		86
HP:0000504	HP:0001123	Visual field defect	2	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen			86
HP:0000504	HP:0000572	Visual loss	2	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000504	HP:0000572	Visual loss	2	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000504	HP:0000572	Visual loss	2	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent		57
HP:0000504	HP:0001123	Visual field defect	2	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen			57
HP:0000504	HP:0000572	Visual loss	2	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13			57
HP:0000504	HP:0000651	Diplopia	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0000504	HP:0100704	Cerebral visual impairment	2	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	HP:0040284 - Very rare		2
HP:0000504	HP:0100704	Cerebral visual impairment	2	CHKA CL E G H	1119	1937	OMIM:620023
HP:0000504	HP:0000572	Visual loss	2	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA			47
HP:0000504	HP:0000572	Visual loss	2	CHM CL E G H	1121	1940	ORPHA:180	Choroideremia			47
HP:0000504	HP:0001123	Visual field defect	2	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA			47
HP:0000504	HP:0100704	Cerebral visual impairment	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	HP:0040283 - Occasional		19
HP:0000504	HP:0007663	Reduced visual acuity	2	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0000504	HP:0007663	Reduced visual acuity	2	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2			35
HP:0000504	HP:0007663	Reduced visual acuity	2	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0000504	HP:0007663	Reduced visual acuity	2	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA			9
HP:0000504	HP:0000651	Diplopia	2	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		74
HP:0000504	HP:0000651	Diplopia	2	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		53
HP:0000504	HP:0000651	Diplopia	2	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		88
HP:0000504	HP:0000651	Diplopia	2	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		139
HP:0000504	HP:0007663	Reduced visual acuity	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:0000504	HP:0007663	Reduced visual acuity	2	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy			129
HP:0000504	HP:0000572	Visual loss	2	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0000504	HP:0001123	Visual field defect	2	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1			15
HP:0000504	HP:0007663	Reduced visual acuity	2	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0000504	HP:0001123	Visual field defect	2	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia	HP:0040283 - Occasional		44
HP:0000504	HP:0100704	Cerebral visual impairment	2	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional		45
HP:0000504	HP:0100704	Cerebral visual impairment	2	CLCN4 CL E G H	1183	2022	OMIM:300114	Raynaud-Claes syndrome	HP:0040284 - Very rare		45
HP:0000504	HP:0100704	Cerebral visual impairment	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000504	HP:0007663	Reduced visual acuity	2	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000504	HP:0007663	Reduced visual acuity	2	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0000504	HP:0007663	Reduced visual acuity	2	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.		102
HP:0000504	HP:0000572	Visual loss	2	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.		102
HP:0000504	HP:0007663	Reduced visual acuity	2	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0000504	HP:0000572	Visual loss	2	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0000504	HP:0007663	Reduced visual acuity	2	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0000504	HP:0000572	Visual loss	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000504	HP:0007663	Reduced visual acuity	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000504	HP:0000572	Visual loss	2	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5			141
HP:0000504	HP:0000572	Visual loss	2	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6			143
HP:0000504	HP:0000572	Visual loss	2	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8			111
HP:0000504	HP:0000572	Visual loss	2	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type			111
HP:0000504	HP:0001123	Visual field defect	2	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa			60
HP:0000504	HP:0007663	Reduced visual acuity	2	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0000504	HP:0007675	Progressive night blindness	2	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0000504	HP:0000572	Visual loss	2	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		60
HP:0000504	HP:0001123	Visual field defect	2	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3			60
HP:0000504	HP:0001123	Visual field defect	2	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA	HP:0040282 - Frequent		60
HP:0000504	HP:0007663	Reduced visual acuity	2	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA	.		60
HP:0000504	HP:0001123	Visual field defect	2	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa			44
HP:0000504	HP:0007663	Reduced visual acuity	2	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0000504	HP:0007675	Progressive night blindness	2	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0000504	HP:0001123	Visual field defect	2	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0000504	HP:0007663	Reduced visual acuity	2	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0000504	HP:0001123	Visual field defect	2	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0000504	HP:0007663	Reduced visual acuity	2	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		82
HP:0000504	HP:0007803	Monochromacy	2	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		82
HP:0000504	HP:0030584	Color vision test abnormality	2	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		82
HP:0000504	HP:0007663	Reduced visual acuity	2	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000504	HP:0007803	Monochromacy	2	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0000504	HP:0007663	Reduced visual acuity	2	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0000504	HP:0007675	Progressive night blindness	2	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0000504	HP:0001123	Visual field defect	2	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45			164
HP:0000504	HP:0001123	Visual field defect	2	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0000504	HP:0007663	Reduced visual acuity	2	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		194
HP:0000504	HP:0007803	Monochromacy	2	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		194
HP:0000504	HP:0030584	Color vision test abnormality	2	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		194
HP:0000504	HP:0007641	Dyschromatopsia	2	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.		194
HP:0000504	HP:0007663	Reduced visual acuity	2	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0000504	HP:0007803	Monochromacy	2	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.		194
HP:0000504	HP:0001123	Visual field defect	2	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease			194
HP:0000504	HP:0007663	Reduced visual acuity	2	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040280 - Obligate		194
HP:0000504	HP:0001123	Visual field defect	2	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000504	HP:0007803	Monochromacy	2	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome	.		61
HP:0000504	HP:0100704	Cerebral visual impairment	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0000504	HP:0007663	Reduced visual acuity	2	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0000504	HP:0007663	Reduced visual acuity	2	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0000504	HP:0000651	Diplopia	2	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		6
HP:0000504	HP:0000651	Diplopia	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0000504	HP:0000572	Visual loss	2	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0000504	HP:0001123	Visual field defect	2	COL18A1 CL E G H	80781	2195	OMIM:618880	GLAUCOMA, PRIMARY CLOSED-ANGLE; GLCC			177
HP:0000504	HP:0000572	Visual loss	2	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent		177
HP:0000504	HP:0007663	Reduced visual acuity	2	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000504	HP:0000572	Visual loss	2	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040283 - Occasional		284
HP:0000504	HP:0007663	Reduced visual acuity	2	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0000504	HP:0001123	Visual field defect	2	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent		749
HP:0000504	HP:0001123	Visual field defect	2	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.		193
HP:0000504	HP:0007663	Reduced visual acuity	2	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:0000504	HP:0000572	Visual loss	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0000504	HP:0000572	Visual loss	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0000504	HP:0000572	Visual loss	2	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000504	HP:0007663	Reduced visual acuity	2	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0000504	HP:0007663	Reduced visual acuity	2	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		3
HP:0000504	HP:0007663	Reduced visual acuity	2	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000504	HP:0007663	Reduced visual acuity	2	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0000504	HP:0007663	Reduced visual acuity	2	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0000504	HP:0100704	Cerebral visual impairment	2	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0000504	HP:0000572	Visual loss	2	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0000504	HP:0100704	Cerebral visual impairment	2	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0000504	HP:0000572	Visual loss	2	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0001123	Visual field defect	2	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000572	Visual loss	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000504	HP:0001123	Visual field defect	2	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000572	Visual loss	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000504	HP:0001123	Visual field defect	2	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000572	Visual loss	2	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0001123	Visual field defect	2	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000572	Visual loss	2	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0001123	Visual field defect	2	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000572	Visual loss	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000504	HP:0001123	Visual field defect	2	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000572	Visual loss	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0000504	HP:0100704	Cerebral visual impairment	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0000504	HP:0000572	Visual loss	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0000504	HP:0007663	Reduced visual acuity	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0000504	HP:0100704	Cerebral visual impairment	2	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0000504	HP:0007663	Reduced visual acuity	2	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis			156
HP:0000504	HP:0007663	Reduced visual acuity	2	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.		156
HP:0000504	HP:0007663	Reduced visual acuity	2	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0000504	HP:0007675	Progressive night blindness	2	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0000504	HP:0007663	Reduced visual acuity	2	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0000504	HP:0007663	Reduced visual acuity	2	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000504	HP:0001123	Visual field defect	2	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000504	HP:0007663	Reduced visual acuity	2	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000504	HP:0007663	Reduced visual acuity	2	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis			158
HP:0000504	HP:0001123	Visual field defect	2	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa			158
HP:0000504	HP:0007663	Reduced visual acuity	2	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0000504	HP:0007675	Progressive night blindness	2	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0000504	HP:0007663	Reduced visual acuity	2	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types			33
HP:0000504	HP:0007663	Reduced visual acuity	2	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types	.		18
HP:0000504	HP:0007663	Reduced visual acuity	2	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types			11
HP:0000504	HP:0000572	Visual loss	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0000504	HP:0007663	Reduced visual acuity	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0000504	HP:0000572	Visual loss	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000504	HP:0001123	Visual field defect	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000504	HP:0007663	Reduced visual acuity	2	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000504	HP:0007663	Reduced visual acuity	2	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		88
HP:0000504	HP:0007663	Reduced visual acuity	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0000504	HP:0000572	Visual loss	2	CTSD CL E G H	1509	2529	OMIM:610127	Ceroid lipofuscinosis, neuronal, 10	.		159
HP:0000504	HP:0001123	Visual field defect	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0000504	HP:0001123	Visual field defect	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000504	HP:0000572	Visual loss	2	CYP1B1 CL E G H	1545	2597	ORPHA:98976	Congenital glaucoma	HP:0040283 - Occasional		101
HP:0000504	HP:0001123	Visual field defect	2	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma			101
HP:0000504	HP:0000572	Visual loss	2	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000504	HP:0001123	Visual field defect	2	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000504	HP:0007675	Progressive night blindness	2	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy	.		126
HP:0000504	HP:0001123	Visual field defect	2	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0000504	HP:0007663	Reduced visual acuity	2	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0000504	HP:0000572	Visual loss	2	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		1
HP:0000504	HP:0000572	Visual loss	2	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0001123	Visual field defect	2	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000572	Visual loss	2	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0001123	Visual field defect	2	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0001123	Visual field defect	2	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0100704	Cerebral visual impairment	2	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0000504	HP:0000651	Diplopia	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040284 - Very rare		60
HP:0000504	HP:0000572	Visual loss	2	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal			31
HP:0000504	HP:0007663	Reduced visual acuity	2	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0000504	HP:0007663	Reduced visual acuity	2	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0000504	HP:0007675	Progressive night blindness	2	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000504	HP:0001123	Visual field defect	2	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0000504	HP:0007663	Reduced visual acuity	2	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0000504	HP:0007663	Reduced visual acuity	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:0000504	HP:0007663	Reduced visual acuity	2	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0000504	HP:0007675	Progressive night blindness	2	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000504	HP:0100704	Cerebral visual impairment	2	DIAPH1 CL E G H	1729	2876	OMIM:616632	Seizures, cortical blindness, and microcephaly syndrome	.		118
HP:0000504	HP:0100704	Cerebral visual impairment	2	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0000504	HP:0100704	Cerebral visual impairment	2	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0000504	HP:0100704	Cerebral visual impairment	2	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		22
HP:0000504	HP:0100704	Cerebral visual impairment	2	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		22
HP:0000504	HP:0000651	Diplopia	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0000504	HP:0001123	Visual field defect	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0000504	HP:0007663	Reduced visual acuity	2	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional		89
HP:0000504	HP:0100704	Cerebral visual impairment	2	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0000504	HP:0100704	Cerebral visual impairment	2	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0000504	HP:0100704	Cerebral visual impairment	2	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		3
HP:0000504	HP:0100704	Cerebral visual impairment	2	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		3
HP:0000504	HP:0000651	Diplopia	2	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent		2
HP:0000504	HP:0000572	Visual loss	2	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0001123	Visual field defect	2	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0001123	Visual field defect	2	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000504	HP:0007663	Reduced visual acuity	2	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000504	HP:0000651	Diplopia	2	DNAJC6 CL E G H	9829	15469	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		6
HP:0000504	HP:0001123	Visual field defect	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000504	HP:0007663	Reduced visual acuity	2	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000504	HP:0000572	Visual loss	2	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000504	HP:0001123	Visual field defect	2	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000504	HP:0007641	Dyschromatopsia	2	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000504	HP:0100704	Cerebral visual impairment	2	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:0000504	HP:0100704	Cerebral visual impairment	2	DOCK7 CL E G H	85440	19190	OMIM:615859	Epileptic encephalopathy, early infantile, 23	.		11
HP:0000504	HP:0100704	Cerebral visual impairment	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0000504	HP:0000651	Diplopia	2	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		91
HP:0000504	HP:0100704	Cerebral visual impairment	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0000504	HP:0100704	Cerebral visual impairment	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0000504	HP:0007663	Reduced visual acuity	2	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0000504	HP:0007663	Reduced visual acuity	2	DRAM2 CL E G H	128338	28769	OMIM:616502	Cone-Rod dystrophy 21	.		9
HP:0000504	HP:0007663	Reduced visual acuity	2	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.		46
HP:0000504	HP:0100704	Cerebral visual impairment	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000504	HP:0007663	Reduced visual acuity	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0000504	HP:0000572	Visual loss	2	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040281 - Very frequent		54
HP:0000504	HP:0001123	Visual field defect	2	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen			54
HP:0000504	HP:0001123	Visual field defect	2	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma			54
HP:0000504	HP:0007663	Reduced visual acuity	2	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0000504	HP:0007663	Reduced visual acuity	2	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0000504	HP:0007663	Reduced visual acuity	2	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0000504	HP:0007663	Reduced visual acuity	2	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0000504	HP:0007663	Reduced visual acuity	2	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0000504	HP:0000651	Diplopia	2	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent		2
HP:0000504	HP:0000572	Visual loss	2	ELMO2 CL E G H	63916	17233	OMIM:606893	Vascular malformation, primary intraosseous	.		3
HP:0000504	HP:0007663	Reduced visual acuity	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000504	HP:0001123	Visual field defect	2	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000504	HP:0007663	Reduced visual acuity	2	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	.
HP:0000504	HP:0001123	Visual field defect	2	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease			62
HP:0000504	HP:0007663	Reduced visual acuity	2	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040280 - Obligate		62
HP:0000504	HP:0007663	Reduced visual acuity	2	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3			62
HP:0000504	HP:0007663	Reduced visual acuity	2	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2			4
HP:0000504	HP:0100704	Cerebral visual impairment	2	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation			5
HP:0000504	HP:0100704	Cerebral visual impairment	2	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:0000504	HP:0001123	Visual field defect	2	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent		186
HP:0000504	HP:0007663	Reduced visual acuity	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0000504	HP:0001123	Visual field defect	2	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0000504	HP:0000572	Visual loss	2	EPM2A CL E G H	7957	3413	OMIM:254780	Myoclonic epilepsy of lafora	.		83
HP:0000504	HP:0000572	Visual loss	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000504	HP:0007663	Reduced visual acuity	2	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0000504	HP:0007663	Reduced visual acuity	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0000504	HP:0000651	Diplopia	2	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		106
HP:0000504	HP:0000651	Diplopia	2	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		54
HP:0000504	HP:0000651	Diplopia	2	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		158
HP:0000504	HP:0007663	Reduced visual acuity	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0000504	HP:0000651	Diplopia	2	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040282 - Frequent		83
HP:0000504	HP:0007663	Reduced visual acuity	2	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0000504	HP:0000572	Visual loss	2	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0000504	HP:0001123	Visual field defect	2	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1			33
HP:0000504	HP:0000572	Visual loss	2	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000504	HP:0000572	Visual loss	2	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000504	HP:0000572	Visual loss	2	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000504	HP:0007663	Reduced visual acuity	2	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0000504	HP:0007675	Progressive night blindness	2	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0000504	HP:0001123	Visual field defect	2	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0000504	HP:0000572	Visual loss	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0000504	HP:0001123	Visual field defect	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent		76
HP:0000504	HP:0030584	Color vision test abnormality	2	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent		76
HP:0000504	HP:0007663	Reduced visual acuity	2	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0000504	HP:0007675	Progressive night blindness	2	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0000504	HP:0001123	Visual field defect	2	FAM161A CL E G H	84140	25808	OMIM:606068	RETINITIS PIGMENTOSA 28; RP28			56
HP:0000504	HP:0001123	Visual field defect	2	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0000504	HP:0007663	Reduced visual acuity	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0000504	HP:0007663	Reduced visual acuity	2	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis			1361
HP:0000504	HP:0007663	Reduced visual acuity	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0000504	HP:0000572	Visual loss	2	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		1361
HP:0000504	HP:0007663	Reduced visual acuity	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0000504	HP:0007663	Reduced visual acuity	2	FBN2 CL E G H	2201	3604	OMIM:616118	MACULAR DEGENERATION, EARLY-ONSET; EOMD			655
HP:0000504	HP:0100704	Cerebral visual impairment	2	FBXW7 CL E G H	55294	16712	OMIM:620012				22
HP:0000504	HP:0100704	Cerebral visual impairment	2	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2	.
HP:0000504	HP:0100704	Cerebral visual impairment	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000504	HP:0001123	Visual field defect	2	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0000504	HP:0007663	Reduced visual acuity	2	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0000504	HP:0100704	Cerebral visual impairment	2	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	HP:0040283 - Occasional		3
HP:0000504	HP:0007641	Dyschromatopsia	2	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27			47
HP:0000504	HP:0100704	Cerebral visual impairment	2	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0000504	HP:0100704	Cerebral visual impairment	2	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0000504	HP:0100704	Cerebral visual impairment	2	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		17
HP:0000504	HP:0100704	Cerebral visual impairment	2	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		17
HP:0000504	HP:0100704	Cerebral visual impairment	2	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0000504	HP:0100704	Cerebral visual impairment	2	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		172
HP:0000504	HP:0007663	Reduced visual acuity	2	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0000504	HP:0007642	Congenital stationary night blindness	2	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent		175
HP:0000504	HP:0000572	Visual loss	2	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040283 - Occasional		175
HP:0000504	HP:0007663	Reduced visual acuity	2	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0000504	HP:0007663	Reduced visual acuity	2	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0000504	HP:0007663	Reduced visual acuity	2	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000504	HP:0007663	Reduced visual acuity	2	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0000504	HP:0007663	Reduced visual acuity	2	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0000504	HP:0007663	Reduced visual acuity	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0000504	HP:0007663	Reduced visual acuity	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0000504	HP:0007663	Reduced visual acuity	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0000504	HP:0001123	Visual field defect	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0000504	HP:0007663	Reduced visual acuity	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0000504	HP:0000572	Visual loss	2	FLVCR1 CL E G H	28982	24682	ORPHA:88628	Posterior column ataxia-retinitis pigmentosa syndrome	HP:0040282 - Frequent		111
HP:0000504	HP:0000572	Visual loss	2	FOXC1 CL E G H	2296	3800	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		63
HP:0000504	HP:0007663	Reduced visual acuity	2	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2			23
HP:0000504	HP:0100704	Cerebral visual impairment	2	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0000504	HP:0100704	Cerebral visual impairment	2	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0000504	HP:0100704	Cerebral visual impairment	2	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		48
HP:0000504	HP:0100704	Cerebral visual impairment	2	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		48
HP:0000504	HP:0007663	Reduced visual acuity	2	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0000504	HP:0007663	Reduced visual acuity	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0000504	HP:0100704	Cerebral visual impairment	2	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	HP:0040284 - Very rare		61
HP:0000504	HP:0007663	Reduced visual acuity	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0000504	HP:0007663	Reduced visual acuity	2	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0000504	HP:0007663	Reduced visual acuity	2	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0000504	HP:0007663	Reduced visual acuity	2	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked	.		38
HP:0000504	HP:0007663	Reduced visual acuity	2	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0000504	HP:0007675	Progressive night blindness	2	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0000504	HP:0007663	Reduced visual acuity	2	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040283 - Occasional		18
HP:0000504	HP:0001123	Visual field defect	2	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.		18
HP:0000504	HP:0007663	Reduced visual acuity	2	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	HP:0040283 - Occasional		18
HP:0000504	HP:0007663	Reduced visual acuity	2	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.		109
HP:0000504	HP:0007663	Reduced visual acuity	2	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		109
HP:0000504	HP:0007663	Reduced visual acuity	2	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000504	HP:0007663	Reduced visual acuity	2	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity			109
HP:0000504	HP:0100704	Cerebral visual impairment	2	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78			4
HP:0000504	HP:0100704	Cerebral visual impairment	2	GABRB1 CL E G H	2560	4081	OMIM:617153	Epileptic encephalopathy, early infantile, 45	.		3
HP:0000504	HP:0100704	Cerebral visual impairment	2	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2	.		44
HP:0000504	HP:0000572	Visual loss	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040283 - Occasional		160
HP:0000504	HP:0000572	Visual loss	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0000504	HP:0007663	Reduced visual acuity	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0000504	HP:0007663	Reduced visual acuity	2	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0000504	HP:0000572	Visual loss	2	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040282 - Frequent		160
HP:0000504	HP:0007663	Reduced visual acuity	2	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0000504	HP:0100704	Cerebral visual impairment	2	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0000504	HP:0100704	Cerebral visual impairment	2	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0000504	HP:0100704	Cerebral visual impairment	2	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		2
HP:0000504	HP:0100704	Cerebral visual impairment	2	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		2
HP:0000504	HP:0007663	Reduced visual acuity	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0000504	HP:0000572	Visual loss	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent		137
HP:0000504	HP:0000651	Diplopia	2	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent
HP:0000504	HP:0007663	Reduced visual acuity	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0000504	HP:0007663	Reduced visual acuity	2	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis			64
HP:0000504	HP:0007663	Reduced visual acuity	2	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17			64
HP:0000504	HP:0000651	Diplopia	2	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent		8
HP:0000504	HP:0007663	Reduced visual acuity	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0000504	HP:0000572	Visual loss	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0000504	HP:0000572	Visual loss	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0000504	HP:0007663	Reduced visual acuity	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0000504	HP:0100704	Cerebral visual impairment	2	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0000504	HP:0100704	Cerebral visual impairment	2	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0000504	HP:0100704	Cerebral visual impairment	2	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		173
HP:0000504	HP:0100704	Cerebral visual impairment	2	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		173
HP:0000504	HP:0100704	Cerebral visual impairment	2	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional		6
HP:0000504	HP:0007663	Reduced visual acuity	2	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0000504	HP:0007663	Reduced visual acuity	2	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0000504	HP:0000572	Visual loss	2	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		16
HP:0000504	HP:0001123	Visual field defect	2	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0000504	HP:0007663	Reduced visual acuity	2	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0000504	HP:0000572	Visual loss	2	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		7
HP:0000504	HP:0000572	Visual loss	2	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare		101
HP:0000504	HP:0007663	Reduced visual acuity	2	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0000504	HP:0007642	Congenital stationary night blindness	2	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness			39
HP:0000504	HP:0007663	Reduced visual acuity	2	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		39
HP:0000504	HP:0007642	Congenital stationary night blindness	2	GNAT1 CL E G H	2779	4393	OMIM:610444	Night blindness, congenital stationary, autosomal dominant 3	.		39
HP:0000504	HP:0007663	Reduced visual acuity	2	GNAT1 CL E G H	2779	4393	OMIM:610444	Night blindness, congenital stationary, autosomal dominant 3			39
HP:0000504	HP:0001123	Visual field defect	2	GNAT1 CL E G H	2779	4393	OMIM:616389	Night blindness, congenital stationary, type 1G			39
HP:0000504	HP:0007642	Congenital stationary night blindness	2	GNAT1 CL E G H	2779	4393	OMIM:616389	Night blindness, congenital stationary, type 1G	.		39
HP:0000504	HP:0001123	Visual field defect	2	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0000504	HP:0007663	Reduced visual acuity	2	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		19
HP:0000504	HP:0007803	Monochromacy	2	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		19
HP:0000504	HP:0030584	Color vision test abnormality	2	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		19
HP:0000504	HP:0007803	Monochromacy	2	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4			19
HP:0000504	HP:0100704	Cerebral visual impairment	2	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000504	HP:0100704	Cerebral visual impairment	2	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	HP:0040283 - Occasional		12
HP:0000504	HP:0007642	Congenital stationary night blindness	2	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness			5
HP:0000504	HP:0007663	Reduced visual acuity	2	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		5
HP:0000504	HP:0007663	Reduced visual acuity	2	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0000504	HP:0007663	Reduced visual acuity	2	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0000504	HP:0001123	Visual field defect	2	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0000504	HP:0007663	Reduced visual acuity	2	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked			64
HP:0000504	HP:0007642	Congenital stationary night blindness	2	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness			124
HP:0000504	HP:0007663	Reduced visual acuity	2	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		124
HP:0000504	HP:0007642	Congenital stationary night blindness	2	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E	.		124
HP:0000504	HP:0007663	Reduced visual acuity	2	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E	.		124
HP:0000504	HP:0007663	Reduced visual acuity	2	GRHL2 CL E G H	79977	2799	OMIM:618031	Corneal dystrophy, posterior polymorphous, 4	.		33
HP:0000504	HP:0007663	Reduced visual acuity	2	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		33
HP:0000504	HP:0100704	Cerebral visual impairment	2	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0000504	HP:0100704	Cerebral visual impairment	2	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040282 - Frequent		108
HP:0000504	HP:0100704	Cerebral visual impairment	2	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:0000504	HP:0100704	Cerebral visual impairment	2	GRIN2D CL E G H	2906	4588	OMIM:617162	Epileptic encephalopathy, early infantile, 46	.		2
HP:0000504	HP:0007663	Reduced visual acuity	2	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0000504	HP:0007642	Congenital stationary night blindness	2	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness			4
HP:0000504	HP:0007663	Reduced visual acuity	2	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		4
HP:0000504	HP:0000651	Diplopia	2	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease	HP:0040284 - Very rare		4
HP:0000504	HP:0007642	Congenital stationary night blindness	2	GRK1 CL E G H	6011	10013	ORPHA:75382	Oguchi disease	HP:0040281 - Very frequent		4
HP:0000504	HP:0007642	Congenital stationary night blindness	2	GRK1 CL E G H	6011	10013	OMIM:613411	OGUCHI DISEASE 2			4
HP:0000504	HP:0007642	Congenital stationary night blindness	2	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness			63
HP:0000504	HP:0007663	Reduced visual acuity	2	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		63
HP:0000504	HP:0007642	Congenital stationary night blindness	2	GRM6 CL E G H	2916	4598	OMIM:257270	Night blindness, congenital stationary, type 1B	.		63
HP:0000504	HP:0100704	Cerebral visual impairment	2	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0000504	HP:0000572	Visual loss	2	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		24
HP:0000504	HP:0007641	Dyschromatopsia	2	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040284 - Very rare		24
HP:0000504	HP:0007663	Reduced visual acuity	2	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		24
HP:0000504	HP:0000572	Visual loss	2	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3			24
HP:0000504	HP:0007663	Reduced visual acuity	2	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3	.		24
HP:0000504	HP:0007663	Reduced visual acuity	2	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0000504	HP:0007675	Progressive night blindness	2	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0000504	HP:0000572	Visual loss	2	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		124
HP:0000504	HP:0007641	Dyschromatopsia	2	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040284 - Very rare		124
HP:0000504	HP:0007663	Reduced visual acuity	2	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		124
HP:0000504	HP:0001123	Visual field defect	2	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000504	HP:0007641	Dyschromatopsia	2	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000504	HP:0007663	Reduced visual acuity	2	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.		124
HP:0000504	HP:0007675	Progressive night blindness	2	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.		124
HP:0000504	HP:0007663	Reduced visual acuity	2	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis			124
HP:0000504	HP:0007663	Reduced visual acuity	2	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0000504	HP:0007641	Dyschromatopsia	2	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I			124
HP:0000504	HP:0007663	Reduced visual acuity	2	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0000504	HP:0100704	Cerebral visual impairment	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000504	HP:0007663	Reduced visual acuity	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000504	HP:0007663	Reduced visual acuity	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0000504	HP:0000572	Visual loss	2	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		99
HP:0000504	HP:0000572	Visual loss	2	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000504	HP:0001123	Visual field defect	2	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3
HP:0000504	HP:0000572	Visual loss	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0000504	HP:0007663	Reduced visual acuity	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0000504	HP:0007663	Reduced visual acuity	2	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0000504	HP:0100704	Cerebral visual impairment	2	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0000504	HP:0007663	Reduced visual acuity	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0000504	HP:0007663	Reduced visual acuity	2	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0000504	HP:0007675	Progressive night blindness	2	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0000504	HP:0001123	Visual field defect	2	HGSNAT CL E G H	138050	26527	OMIM:616544	Retinitis pigmentosa 73			86
HP:0000504	HP:0100704	Cerebral visual impairment	2	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA			11
HP:0000504	HP:0001123	Visual field defect	2	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79			11
HP:0000504	HP:0007663	Reduced visual acuity	2	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79	.		11
HP:0000504	HP:0001123	Visual field defect	2	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92			2
HP:0000504	HP:0000572	Visual loss	2	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040281 - Very frequent		4
HP:0000504	HP:0001123	Visual field defect	2	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0000504	HP:0007663	Reduced visual acuity	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0000504	HP:0000572	Visual loss	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0000504	HP:0000651	Diplopia	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0000504	HP:0001123	Visual field defect	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0000504	HP:0000651	Diplopia	2	HLA-DQB1 CL E G H	3119	4944	OMIM:126200	Multiple sclerosis, susceptibility to	.
HP:0000504	HP:0000572	Visual loss	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0000504	HP:0000651	Diplopia	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0000504	HP:0001123	Visual field defect	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0000504	HP:0000651	Diplopia	2	HLA-DRB1 CL E G H	3123	4948	OMIM:126200	Multiple sclerosis, susceptibility to	.		2
HP:0000504	HP:0007663	Reduced visual acuity	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0000504	HP:0000572	Visual loss	2	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1			262
HP:0000504	HP:0007663	Reduced visual acuity	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000504	HP:0007663	Reduced visual acuity	2	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0000504	HP:0007663	Reduced visual acuity	2	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0000504	HP:0007663	Reduced visual acuity	2	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.		123
HP:0000504	HP:0007663	Reduced visual acuity	2	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.		105
HP:0000504	HP:0007663	Reduced visual acuity	2	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.		45
HP:0000504	HP:0000572	Visual loss	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0000504	HP:0007663	Reduced visual acuity	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0000504	HP:0000572	Visual loss	2	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0000504	HP:0000572	Visual loss	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0000504	HP:0000651	Diplopia	2	HTRA2 CL E G H	27429	14348	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		39
HP:0000504	HP:0001123	Visual field defect	2	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent		16
HP:0000504	HP:0001123	Visual field defect	2	IBA57 CL E G H	200205	27302	OMIM:616451	Spastic paraplegia 74, autosomal recessive	.		16
HP:0000504	HP:0007663	Reduced visual acuity	2	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0000504	HP:0007675	Progressive night blindness	2	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0001123	Visual field defect	2	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0000504	HP:0007663	Reduced visual acuity	2	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0000504	HP:0007663	Reduced visual acuity	2	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0000504	HP:0007675	Progressive night blindness	2	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000504	HP:0001123	Visual field defect	2	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0000504	HP:0001123	Visual field defect	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000504	HP:0001123	Visual field defect	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000504	HP:0007663	Reduced visual acuity	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0000504	HP:0007663	Reduced visual acuity	2	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis			148
HP:0000504	HP:0007663	Reduced visual acuity	2	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0000504	HP:0007675	Progressive night blindness	2	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0000504	HP:0000572	Visual loss	2	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0000504	HP:0007663	Reduced visual acuity	2	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0000504	HP:0000572	Visual loss	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.		148
HP:0000504	HP:0001123	Visual field defect	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000504	HP:0001123	Visual field defect	2	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0000504	HP:0007663	Reduced visual acuity	2	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0000504	HP:0007675	Progressive night blindness	2	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000504	HP:0007663	Reduced visual acuity	2	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0000504	HP:0007675	Progressive night blindness	2	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000504	HP:0007663	Reduced visual acuity	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0000504	HP:0007663	Reduced visual acuity	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0000504	HP:0007663	Reduced visual acuity	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0000504	HP:0007663	Reduced visual acuity	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0000504	HP:0000572	Visual loss	2	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0000504	HP:0007663	Reduced visual acuity	2	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0000504	HP:0000572	Visual loss	2	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000504	HP:0007663	Reduced visual acuity	2	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000504	HP:0007663	Reduced visual acuity	2	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis			52
HP:0000504	HP:0007663	Reduced visual acuity	2	IMPDH1 CL E G H	3614	6052	OMIM:613837	Leber congenital amaurosis 11	.		52
HP:0000504	HP:0007663	Reduced visual acuity	2	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0000504	HP:0007675	Progressive night blindness	2	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0000504	HP:0001123	Visual field defect	2	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10			52
HP:0000504	HP:0007663	Reduced visual acuity	2	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	HP:0040284 - Very rare		52
HP:0000504	HP:0001123	Visual field defect	2	IMPG1 CL E G H	3617	6055	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		4
HP:0000504	HP:0007641	Dyschromatopsia	2	IMPG1 CL E G H	3617	6055	OMIM:153870	Macular dystrophy, concentric annular	.		4
HP:0000504	HP:0007663	Reduced visual acuity	2	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4	.		4
HP:0000504	HP:0007663	Reduced visual acuity	2	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0000504	HP:0007675	Progressive night blindness	2	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000504	HP:0001123	Visual field defect	2	IMPG2 CL E G H	50939	18362	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		120
HP:0000504	HP:0001123	Visual field defect	2	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5			120
HP:0000504	HP:0007663	Reduced visual acuity	2	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5	.		120
HP:0000504	HP:0007663	Reduced visual acuity	2	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0000504	HP:0007675	Progressive night blindness	2	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0000504	HP:0001123	Visual field defect	2	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56			120
HP:0000504	HP:0007663	Reduced visual acuity	2	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56			120
HP:0000504	HP:0000572	Visual loss	2	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		111
HP:0000504	HP:0007663	Reduced visual acuity	2	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	.		111
HP:0000504	HP:0007675	Progressive night blindness	2	INPP5E CL E G H	56623	21474	ORPHA:75858	MORM syndrome	HP:0040282 - Frequent		111
HP:0000504	HP:0000572	Visual loss	2	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0000504	HP:0007663	Reduced visual acuity	2	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis			61
HP:0000504	HP:0000572	Visual loss	2	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0000504	HP:0007663	Reduced visual acuity	2	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0000504	HP:0007663	Reduced visual acuity	2	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0000504	HP:0007663	Reduced visual acuity	2	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0000504	HP:0001123	Visual field defect	2	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities			3
HP:0000504	HP:0007663	Reduced visual acuity	2	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities			3
HP:0000504	HP:0001123	Visual field defect	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		57
HP:0000504	HP:0000572	Visual loss	2	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000504	HP:0100704	Cerebral visual impairment	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.		34
HP:0000504	HP:0007663	Reduced visual acuity	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000504	HP:0100704	Cerebral visual impairment	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent		34
HP:0000504	HP:0000651	Diplopia	2	KCNA1 CL E G H	3736	6218	ORPHA:37612	Episodic ataxia type 1	HP:0040282 - Frequent		145
HP:0000504	HP:0000651	Diplopia	2	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040283 - Occasional		35
HP:0000504	HP:0007663	Reduced visual acuity	2	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis			42
HP:0000504	HP:0007663	Reduced visual acuity	2	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16	.		42
HP:0000504	HP:0007663	Reduced visual acuity	2	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000504	HP:0001123	Visual field defect	2	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B			73
HP:0000504	HP:0007663	Reduced visual acuity	2	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B			73
HP:0000504	HP:0000572	Visual loss	2	KCTD7 CL E G H	154881	21957	OMIM:611726	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	HP:0040283 - Occasional		106
HP:0000504	HP:0007663	Reduced visual acuity	2	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2			8
HP:0000504	HP:0000572	Visual loss	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0000504	HP:0007663	Reduced visual acuity	2	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0000504	HP:0007675	Progressive night blindness	2	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000572	Visual loss	2	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0000504	HP:0007663	Reduced visual acuity	2	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0000504	HP:0007663	Reduced visual acuity	2	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0000504	HP:0000572	Visual loss	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0000504	HP:0007663	Reduced visual acuity	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0000504	HP:0007663	Reduced visual acuity	2	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0000504	HP:0100704	Cerebral visual impairment	2	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9	HP:0040283 - Occasional		276
HP:0000504	HP:0000572	Visual loss	2	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		276
HP:0000504	HP:0007663	Reduced visual acuity	2	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040284 - Very rare		38
HP:0000504	HP:0001123	Visual field defect	2	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0000504	HP:0100704	Cerebral visual impairment	2	KIF5A CL E G H	3798	6323	OMIM:617235	Myoclonus, intractable, neonatal	.		93
HP:0000504	HP:0007663	Reduced visual acuity	2	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0000504	HP:0007675	Progressive night blindness	2	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000504	HP:0001123	Visual field defect	2	KIZ CL E G H	55857	15865	OMIM:615780	Retinitis pigmentosa 69			3
HP:0000504	HP:0007663	Reduced visual acuity	2	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0000504	HP:0007675	Progressive night blindness	2	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0000504	HP:0007663	Reduced visual acuity	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0000504	HP:0100704	Cerebral visual impairment	2	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0000504	HP:0001123	Visual field defect	2	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0000504	HP:0007663	Reduced visual acuity	2	KRT12 CL E G H	3859	6414	OMIM:122100	Meesmann corneal dystrophy 1	.		22
HP:0000504	HP:0007663	Reduced visual acuity	2	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0000504	HP:0007663	Reduced visual acuity	2	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0000504	HP:0007663	Reduced visual acuity	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0000504	HP:0000572	Visual loss	2	LAMC3 CL E G H	10319	6494	OMIM:614115	Cortical malformations, occipital	.		114
HP:0000504	HP:0007663	Reduced visual acuity	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0000504	HP:0007663	Reduced visual acuity	2	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis			70
HP:0000504	HP:0000572	Visual loss	2	LCA5 CL E G H	167691	31923	OMIM:604537	Leber congenital amaurosis 5	.	HP:0003577 - Congenital onset	70
HP:0000504	HP:0001123	Visual field defect	2	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000504	HP:0007663	Reduced visual acuity	2	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		70
HP:0000504	HP:0007663	Reduced visual acuity	2	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types			16
HP:0000504	HP:0007663	Reduced visual acuity	2	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000504	HP:0100704	Cerebral visual impairment	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0000504	HP:0001123	Visual field defect	2	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type
HP:0000504	HP:0007663	Reduced visual acuity	2	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type	.
HP:0000504	HP:0007663	Reduced visual acuity	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0000504	HP:0007663	Reduced visual acuity	2	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0000504	HP:0007663	Reduced visual acuity	2	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis			62
HP:0000504	HP:0007663	Reduced visual acuity	2	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0000504	HP:0001123	Visual field defect	2	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa			62
HP:0000504	HP:0007663	Reduced visual acuity	2	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0000504	HP:0007675	Progressive night blindness	2	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0000504	HP:0001123	Visual field defect	2	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000504	HP:0007663	Reduced visual acuity	2	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		62
HP:0000504	HP:0007642	Congenital stationary night blindness	2	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness			54
HP:0000504	HP:0007663	Reduced visual acuity	2	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		54
HP:0000504	HP:0007642	Congenital stationary night blindness	2	LRIT3 CL E G H	345193	24783	OMIM:615058	Night blindness, congenital stationary, type 1F	.		54
HP:0000504	HP:0000572	Visual loss	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000504	HP:0000572	Visual loss	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0000504	HP:0000651	Diplopia	2	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		124
HP:0000504	HP:0007663	Reduced visual acuity	2	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.		125
HP:0000504	HP:0007663	Reduced visual acuity	2	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.		125
HP:0000504	HP:0007663	Reduced visual acuity	2	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		125
HP:0000504	HP:0007663	Reduced visual acuity	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0000504	HP:0007663	Reduced visual acuity	2	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0000504	HP:0007663	Reduced visual acuity	2	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity			125
HP:0000504	HP:0007663	Reduced visual acuity	2	LRPAP1 CL E G H	4043	6701	OMIM:615431	Myopia 23, autosomal recessive	.		4
HP:0000504	HP:0000651	Diplopia	2	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent		221
HP:0000504	HP:0000651	Diplopia	2	LRRK2 CL E G H	120892	18618	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		221
HP:0000504	HP:0000572	Visual loss	2	LSS CL E G H	4047	6708	OMIM:616509	Cataract 44	.		2
HP:0000504	HP:0000572	Visual loss	2	LTBP2 CL E G H	4053	6715	ORPHA:98976	Congenital glaucoma	HP:0040283 - Occasional		123
HP:0000504	HP:0000572	Visual loss	2	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		123
HP:0000504	HP:0007663	Reduced visual acuity	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent		239
HP:0000504	HP:0007663	Reduced visual acuity	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0000504	HP:0100704	Cerebral visual impairment	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0000504	HP:0100704	Cerebral visual impairment	2	MACF1 CL E G H	23499	13664	ORPHA:572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome			2
HP:0000504	HP:0007663	Reduced visual acuity	2	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0000504	HP:0007663	Reduced visual acuity	2	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.		4
HP:0000504	HP:0007663	Reduced visual acuity	2	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0000504	HP:0007675	Progressive night blindness	2	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0000504	HP:0001123	Visual field defect	2	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62	.		53
HP:0000504	HP:0007663	Reduced visual acuity	2	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62			53
HP:0000504	HP:0007663	Reduced visual acuity	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0000504	HP:0100704	Cerebral visual impairment	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	HP:0040284 - Very rare
HP:0000504	HP:0007663	Reduced visual acuity	2	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3	.		1
HP:0000504	HP:0000651	Diplopia	2	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1	.		140
HP:0000504	HP:0007663	Reduced visual acuity	2	MARK3 CL E G H	4140	6897	OMIM:618283	Visual impairment and progressive phthisis bulbi	.
HP:0000504	HP:0007663	Reduced visual acuity	2	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.		124
HP:0000504	HP:0007663	Reduced visual acuity	2	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		124
HP:0000504	HP:0007663	Reduced visual acuity	2	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0000504	HP:0007663	Reduced visual acuity	2	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0000504	HP:0007663	Reduced visual acuity	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0000504	HP:0007663	Reduced visual acuity	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0000504	HP:0000572	Visual loss	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000504	HP:0000651	Diplopia	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0000504	HP:0001123	Visual field defect	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000504	HP:0007663	Reduced visual acuity	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0000504	HP:0007663	Reduced visual acuity	2	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0000504	HP:0007675	Progressive night blindness	2	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0000504	HP:0000572	Visual loss	2	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38			75
HP:0000504	HP:0001123	Visual field defect	2	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38			75
HP:0000504	HP:0000572	Visual loss	2	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000504	HP:0001123	Visual field defect	2	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000504	HP:0007663	Reduced visual acuity	2	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.		26
HP:0000504	HP:0000572	Visual loss	2	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.		120
HP:0000504	HP:0007663	Reduced visual acuity	2	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7			120
HP:0000504	HP:0001123	Visual field defect	2	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement			120
HP:0000504	HP:0007663	Reduced visual acuity	2	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement	.		120
HP:0000504	HP:0007663	Reduced visual acuity	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0000504	HP:0007663	Reduced visual acuity	2	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome	.		1
HP:0000504	HP:0007663	Reduced visual acuity	2	MIR204 CL E G H	406987	31582	OMIM:616722	Retinal dystrophy and iris coloboma with or without congenital cataract	.		1
HP:0000504	HP:0000572	Visual loss	2	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		127
HP:0000504	HP:0001123	Visual field defect	2	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0000504	HP:0001123	Visual field defect	2	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0000504	HP:0007663	Reduced visual acuity	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000504	HP:0007663	Reduced visual acuity	2	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0000504	HP:0000572	Visual loss	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0000504	HP:0001123	Visual field defect	2	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies	.		2
HP:0000504	HP:0007663	Reduced visual acuity	2	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies	.		2
HP:0000504	HP:0007641	Dyschromatopsia	2	MORC2 CL E G H	22880	23573	ORPHA:466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	HP:0040283 - Occasional		8
HP:0000504	HP:0001123	Visual field defect	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		97
HP:0000504	HP:0001123	Visual field defect	2	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0000504	HP:0001123	Visual field defect	2	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0000504	HP:0001123	Visual field defect	2	MSX2 CL E G H	4488	7392	OMIM:604757	Craniosynostosis 2	HP:0040283 - Occasional		45
HP:0000504	HP:0007663	Reduced visual acuity	2	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional		29
HP:0000504	HP:0100704	Cerebral visual impairment	2	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	HP:0040284 - Very rare
HP:0000504	HP:0001123	Visual field defect	2	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly			68
HP:0000504	HP:0007663	Reduced visual acuity	2	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0000504	HP:0007663	Reduced visual acuity	2	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0000504	HP:0001123	Visual field defect	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040282 - Frequent
HP:0000504	HP:0007641	Dyschromatopsia	2	MTRFR CL E G H	91574	26784	ORPHA:254930	Combined oxidative phosphorylation defect type 7	HP:0040283 - Occasional
HP:0000504	HP:0001123	Visual field defect	2	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0000504	HP:0007663	Reduced visual acuity	2	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	HP:0040283 - Occasional
HP:0000504	HP:0007663	Reduced visual acuity	2	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0000504	HP:0000572	Visual loss	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0000504	HP:0001123	Visual field defect	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0000504	HP:0007663	Reduced visual acuity	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0000504	HP:0000651	Diplopia	2	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		72
HP:0000504	HP:0000651	Diplopia	2	MYO5A CL E G H	4644	7602	ORPHA:79476	Griscelli syndrome type 1	HP:0040281 - Very frequent		35
HP:0000504	HP:0007642	Congenital stationary night blindness	2	MYO6 CL E G H	4646	7605	OMIM:607821	Deafness, autosomal recessive 37	HP:0040283 - Occasional		179
HP:0000504	HP:0000572	Visual loss	2	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0000504	HP:0001123	Visual field defect	2	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1			516
HP:0000504	HP:0000572	Visual loss	2	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		516
HP:0000504	HP:0001123	Visual field defect	2	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2			516
HP:0000504	HP:0000572	Visual loss	2	MYO7A CL E G H	4647	7606	OMIM:276900	Usher syndrome, type I	.		516
HP:0000504	HP:0000651	Diplopia	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0000504	HP:0000572	Visual loss	2	MYOC CL E G H	4653	7610	ORPHA:98976	Congenital glaucoma	HP:0040283 - Occasional		47
HP:0000504	HP:0001123	Visual field defect	2	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma			47
HP:0000504	HP:0007663	Reduced visual acuity	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0000504	HP:0000651	Diplopia	2	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0000504	HP:0100704	Cerebral visual impairment	2	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.		14
HP:0000504	HP:0100704	Cerebral visual impairment	2	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent		14
HP:0000504	HP:0100704	Cerebral visual impairment	2	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040281 - Very frequent		47
HP:0000504	HP:0100704	Cerebral visual impairment	2	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.		47
HP:0000504	HP:0100704	Cerebral visual impairment	2	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0000504	HP:0000572	Visual loss	2	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0000504	HP:0007663	Reduced visual acuity	2	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.		25
HP:0000504	HP:0007803	Monochromacy	2	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly			25
HP:0000504	HP:0007663	Reduced visual acuity	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0000504	HP:0000572	Visual loss	2	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0001123	Visual field defect	2	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000572	Visual loss	2	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0001123	Visual field defect	2	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000572	Visual loss	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000504	HP:0001123	Visual field defect	2	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0007663	Reduced visual acuity	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0000504	HP:0000572	Visual loss	2	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0001123	Visual field defect	2	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000572	Visual loss	2	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0001123	Visual field defect	2	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0007663	Reduced visual acuity	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0000504	HP:0000572	Visual loss	2	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0001123	Visual field defect	2	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000572	Visual loss	2	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0001123	Visual field defect	2	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000572	Visual loss	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000504	HP:0000572	Visual loss	2	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0001123	Visual field defect	2	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000572	Visual loss	2	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0001123	Visual field defect	2	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000572	Visual loss	2	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0001123	Visual field defect	2	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000572	Visual loss	2	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0001123	Visual field defect	2	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000572	Visual loss	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000504	HP:0001123	Visual field defect	2	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000572	Visual loss	2	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0001123	Visual field defect	2	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000572	Visual loss	2	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0001123	Visual field defect	2	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000572	Visual loss	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000504	HP:0001123	Visual field defect	2	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0007663	Reduced visual acuity	2	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0000504	HP:0007663	Reduced visual acuity	2	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked	.		39
HP:0000504	HP:0007663	Reduced visual acuity	2	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		39
HP:0000504	HP:0007663	Reduced visual acuity	2	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0000504	HP:0007663	Reduced visual acuity	2	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0000504	HP:0007663	Reduced visual acuity	2	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000504	HP:0007663	Reduced visual acuity	2	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity			39
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0000504	HP:0000572	Visual loss	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0000504	HP:0000572	Visual loss	2	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy			65
HP:0000504	HP:0001123	Visual field defect	2	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy			65
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0000504	HP:0007663	Reduced visual acuity	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0000504	HP:0007663	Reduced visual acuity	2	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0000504	HP:0007675	Progressive night blindness	2	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000504	HP:0000572	Visual loss	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional		43
HP:0000504	HP:0000572	Visual loss	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0000504	HP:0000572	Visual loss	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0000504	HP:0000572	Visual loss	2	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0000504	HP:0100704	Cerebral visual impairment	2	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0000504	HP:0000572	Visual loss	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000504	HP:0007663	Reduced visual acuity	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0000504	HP:0000572	Visual loss	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000504	HP:0001123	Visual field defect	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000504	HP:0007663	Reduced visual acuity	2	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000504	HP:0000572	Visual loss	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0000504	HP:0000651	Diplopia	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0000504	HP:0007663	Reduced visual acuity	2	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040282 - Frequent		220
HP:0000504	HP:0007663	Reduced visual acuity	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0000504	HP:0000651	Diplopia	2	NFKB2 CL E G H	4791	7795	ORPHA:293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	HP:0040283 - Occasional		11
HP:0000504	HP:0000572	Visual loss	2	NHLRC1 CL E G H	378884	21576	OMIM:254780	Myoclonic epilepsy of lafora	.		77
HP:0000504	HP:0007663	Reduced visual acuity	2	NHS CL E G H	4810	7820	OMIM:302200	Cataract, congenital total, with posterior sutural opacities in heterozygotes			88
HP:0000504	HP:0000572	Visual loss	2	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040281 - Very frequent		88
HP:0000504	HP:0000572	Visual loss	2	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.		88
HP:0000504	HP:0007663	Reduced visual acuity	2	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0000504	HP:0007663	Reduced visual acuity	2	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis			15
HP:0000504	HP:0007663	Reduced visual acuity	2	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000504	HP:0000572	Visual loss	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional		187
HP:0000504	HP:0100704	Cerebral visual impairment	2	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0000504	HP:0100704	Cerebral visual impairment	2	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0000504	HP:0100704	Cerebral visual impairment	2	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		45
HP:0000504	HP:0100704	Cerebral visual impairment	2	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		45
HP:0000504	HP:0007663	Reduced visual acuity	2	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000504	HP:0000651	Diplopia	2	NOP56 CL E G H	10528	15911	ORPHA:276198	Spinocerebellar ataxia type 36	HP:0040284 - Very rare		9
HP:0000504	HP:0000572	Visual loss	2	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy	HP:0040283 - Occasional		144
HP:0000504	HP:0000572	Visual loss	2	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0000504	HP:0000572	Visual loss	2	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0000504	HP:0000572	Visual loss	2	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0000504	HP:0007663	Reduced visual acuity	2	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4			220
HP:0000504	HP:0007663	Reduced visual acuity	2	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0000504	HP:0007675	Progressive night blindness	2	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0000504	HP:0007641	Dyschromatopsia	2	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37			58
HP:0000504	HP:0001123	Visual field defect	2	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0000504	HP:0100704	Cerebral visual impairment	2	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0000504	HP:0007663	Reduced visual acuity	2	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0000504	HP:0001123	Visual field defect	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0000504	HP:0100704	Cerebral visual impairment	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0000504	HP:0007663	Reduced visual acuity	2	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040282 - Frequent		37
HP:0000504	HP:0001123	Visual field defect	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0000504	HP:0007663	Reduced visual acuity	2	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0000504	HP:0007675	Progressive night blindness	2	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000504	HP:0007663	Reduced visual acuity	2	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27			30
HP:0000504	HP:0007663	Reduced visual acuity	2	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0000504	HP:0007663	Reduced visual acuity	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0000504	HP:0007642	Congenital stationary night blindness	2	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness			42
HP:0000504	HP:0007663	Reduced visual acuity	2	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		42
HP:0000504	HP:0007642	Congenital stationary night blindness	2	NYX CL E G H	60506	8082	OMIM:310500	Night blindness, congenital stationary, type 1A	.		42
HP:0000504	HP:0000572	Visual loss	2	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000504	HP:0001123	Visual field defect	2	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000504	HP:0007663	Reduced visual acuity	2	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0000504	HP:0007675	Progressive night blindness	2	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040282 - Frequent		94
HP:0000504	HP:0007663	Reduced visual acuity	2	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency			94
HP:0000504	HP:0007663	Reduced visual acuity	2	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.		121
HP:0000504	HP:0007663	Reduced visual acuity	2	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		121
HP:0000504	HP:0007663	Reduced visual acuity	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0000504	HP:0007663	Reduced visual acuity	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0000504	HP:0007663	Reduced visual acuity	2	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0000504	HP:0007675	Progressive night blindness	2	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0000504	HP:0001123	Visual field defect	2	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000504	HP:0007663	Reduced visual acuity	2	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000504	HP:0007663	Reduced visual acuity	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000504	HP:0000572	Visual loss	2	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000504	HP:0001123	Visual field defect	2	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0000504	HP:0001123	Visual field defect	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000504	HP:0007663	Reduced visual acuity	2	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000504	HP:0000572	Visual loss	2	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0000504	HP:0007663	Reduced visual acuity	2	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0000504	HP:0001123	Visual field defect	2	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000504	HP:0007641	Dyschromatopsia	2	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000504	HP:0007663	Reduced visual acuity	2	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.		214
HP:0000504	HP:0001123	Visual field defect	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000504	HP:0007641	Dyschromatopsia	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000504	HP:0007663	Reduced visual acuity	2	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000504	HP:0007663	Reduced visual acuity	2	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III	.		163
HP:0000504	HP:0001123	Visual field defect	2	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0000504	HP:0007641	Dyschromatopsia	2	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0000504	HP:0007663	Reduced visual acuity	2	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040281 - Very frequent		163
HP:0000504	HP:0001123	Visual field defect	2	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3			163
HP:0000504	HP:0007663	Reduced visual acuity	2	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3			163
HP:0000504	HP:0007663	Reduced visual acuity	2	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	.		7
HP:0000504	HP:0007803	Monochromacy	2	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy			7
HP:0000504	HP:0007803	Monochromacy	2	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism			7
HP:0000504	HP:0007641	Dyschromatopsia	2	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series			7
HP:0000504	HP:0007663	Reduced visual acuity	2	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	.		5
HP:0000504	HP:0007803	Monochromacy	2	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy			5
HP:0000504	HP:0007803	Monochromacy	2	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism			5
HP:0000504	HP:0007641	Dyschromatopsia	2	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series			5
HP:0000504	HP:0007641	Dyschromatopsia	2	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia			3
HP:0000504	HP:0007641	Dyschromatopsia	2	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA			3
HP:0000504	HP:0007663	Reduced visual acuity	2	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia	HP:0040283 - Occasional		3
HP:0000504	HP:0030584	Color vision test abnormality	2	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia	HP:0040282 - Frequent		3
HP:0000504	HP:0007663	Reduced visual acuity	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0000504	HP:0007663	Reduced visual acuity	2	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		4
HP:0000504	HP:0007663	Reduced visual acuity	2	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration			5
HP:0000504	HP:0000572	Visual loss	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000504	HP:0000651	Diplopia	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000504	HP:0001123	Visual field defect	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000504	HP:0100704	Cerebral visual impairment	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0000504	HP:0007663	Reduced visual acuity	2	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000504	HP:0000572	Visual loss	2	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent
HP:0000504	HP:0007663	Reduced visual acuity	2	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration			55
HP:0000504	HP:0007663	Reduced visual acuity	2	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0000504	HP:0007663	Reduced visual acuity	2	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0000504	HP:0000651	Diplopia	2	PARK7 CL E G H	11315	16369	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		23
HP:0000504	HP:0100704	Cerebral visual impairment	2	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75	.		14
HP:0000504	HP:0007663	Reduced visual acuity	2	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0000504	HP:0007663	Reduced visual acuity	2	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.		194
HP:0000504	HP:0007663	Reduced visual acuity	2	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040282 - Frequent		194
HP:0000504	HP:0007663	Reduced visual acuity	2	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0000504	HP:0000572	Visual loss	2	PAX6 CL E G H	5080	8620	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		194
HP:0000504	HP:0007663	Reduced visual acuity	2	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040281 - Very frequent		194
HP:0000504	HP:0007663	Reduced visual acuity	2	PAX6 CL E G H	5080	8620	ORPHA:35737	Morning glory disc anomaly			194
HP:0000504	HP:0007663	Reduced visual acuity	2	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL			194
HP:0000504	HP:0007663	Reduced visual acuity	2	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0000504	HP:0007675	Progressive night blindness	2	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000572	Visual loss	2	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0000504	HP:0001123	Visual field defect	2	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1			352
HP:0000504	HP:0007663	Reduced visual acuity	2	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis			11
HP:0000504	HP:0000572	Visual loss	2	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy			11
HP:0000504	HP:0007663	Reduced visual acuity	2	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0000504	HP:0000651	Diplopia	2	PDCD1 CL E G H	5133	8760	OMIM:126200	Multiple sclerosis, susceptibility to	.		1
HP:0000504	HP:0007663	Reduced visual acuity	2	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0000504	HP:0007675	Progressive night blindness	2	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0000504	HP:0001123	Visual field defect	2	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0000504	HP:0007642	Congenital stationary night blindness	2	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness			126
HP:0000504	HP:0007663	Reduced visual acuity	2	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		126
HP:0000504	HP:0007642	Congenital stationary night blindness	2	PDE6B CL E G H	5158	8786	OMIM:163500	Night blindness, congenital stationary, autosomal dominant 2	.		126
HP:0000504	HP:0007663	Reduced visual acuity	2	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0000504	HP:0007675	Progressive night blindness	2	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0000504	HP:0001123	Visual field defect	2	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0000504	HP:0007663	Reduced visual acuity	2	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		80
HP:0000504	HP:0007803	Monochromacy	2	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		80
HP:0000504	HP:0030584	Color vision test abnormality	2	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		80
HP:0000504	HP:0007641	Dyschromatopsia	2	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4	.		80
HP:0000504	HP:0007663	Reduced visual acuity	2	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4	.		80
HP:0000504	HP:0001123	Visual field defect	2	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa			18
HP:0000504	HP:0007663	Reduced visual acuity	2	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0000504	HP:0007675	Progressive night blindness	2	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0000504	HP:0001123	Visual field defect	2	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0000504	HP:0007663	Reduced visual acuity	2	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0000504	HP:0001123	Visual field defect	2	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0000504	HP:0007663	Reduced visual acuity	2	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		14
HP:0000504	HP:0007803	Monochromacy	2	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		14
HP:0000504	HP:0030584	Color vision test abnormality	2	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		14
HP:0000504	HP:0007641	Dyschromatopsia	2	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A	.		14
HP:0000504	HP:0007663	Reduced visual acuity	2	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A	.		14
HP:0000504	HP:0000572	Visual loss	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000504	HP:0001123	Visual field defect	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000504	HP:0007663	Reduced visual acuity	2	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000504	HP:0007663	Reduced visual acuity	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0000504	HP:0100704	Cerebral visual impairment	2	PDSS2 CL E G H	57107	23041	OMIM:614652	Coenzyme Q10 deficiency, primary, 3	.		54
HP:0000504	HP:0100704	Cerebral visual impairment	2	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0000504	HP:0000572	Visual loss	2	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		40
HP:0000504	HP:0001123	Visual field defect	2	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2			40
HP:0000504	HP:0007663	Reduced visual acuity	2	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000504	HP:0100704	Cerebral visual impairment	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0000504	HP:0001123	Visual field defect	2	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0000504	HP:0001123	Visual field defect	2	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0000504	HP:0001123	Visual field defect	2	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0000504	HP:0001123	Visual field defect	2	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0000504	HP:0001123	Visual field defect	2	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0000504	HP:0000572	Visual loss	2	PEX13 CL E G H	5194	8855	OMIM:614885	Peroxisome biogenesis disorder 11B	.		66
HP:0000504	HP:0001123	Visual field defect	2	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0000504	HP:0001123	Visual field defect	2	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0000504	HP:0001123	Visual field defect	2	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0000504	HP:0001123	Visual field defect	2	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0000504	HP:0001123	Visual field defect	2	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0000504	HP:0001123	Visual field defect	2	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0000504	HP:0001123	Visual field defect	2	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0000504	HP:0007663	Reduced visual acuity	2	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0000504	HP:0001123	Visual field defect	2	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0000504	HP:0000572	Visual loss	2	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0000504	HP:0100704	Cerebral visual impairment	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0000504	HP:0007663	Reduced visual acuity	2	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0000504	HP:0000572	Visual loss	2	PGK1 CL E G H	5230	8896	OMIM:300653	Phosphoglycerate kinase 1 deficiency	HP:0040283 - Occasional		21
HP:0000504	HP:0100704	Cerebral visual impairment	2	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional		37
HP:0000504	HP:0007663	Reduced visual acuity	2	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0000504	HP:0000572	Visual loss	2	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0000504	HP:0007663	Reduced visual acuity	2	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0000504	HP:0100704	Cerebral visual impairment	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0000504	HP:0100704	Cerebral visual impairment	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0000504	HP:0007663	Reduced visual acuity	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0000504	HP:0007663	Reduced visual acuity	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000504	HP:0100704	Cerebral visual impairment	2	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55	.		2
HP:0000504	HP:0100704	Cerebral visual impairment	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0000504	HP:0100704	Cerebral visual impairment	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000504	HP:0100704	Cerebral visual impairment	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040281 - Very frequent		12
HP:0000504	HP:0100704	Cerebral visual impairment	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0000504	HP:0100704	Cerebral visual impairment	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000504	HP:0100704	Cerebral visual impairment	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6	.		2
HP:0000504	HP:0001123	Visual field defect	2	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly			162
HP:0000504	HP:0001123	Visual field defect	2	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0000504	HP:0000572	Visual loss	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000504	HP:0001123	Visual field defect	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000504	HP:0007663	Reduced visual acuity	2	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000504	HP:0007663	Reduced visual acuity	2	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0000504	HP:0000651	Diplopia	2	PINK1 CL E G H	65018	14581	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		55
HP:0000504	HP:0001123	Visual field defect	2	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5			135
HP:0000504	HP:0007663	Reduced visual acuity	2	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5	.		135
HP:0000504	HP:0007663	Reduced visual acuity	2	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea			51
HP:0000504	HP:0007663	Reduced visual acuity	2	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types			6
HP:0000504	HP:0007663	Reduced visual acuity	2	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0000504	HP:0000572	Visual loss	2	PLA2G6 CL E G H	8398	9039	OMIM:256600	Neurodegeneration with brain iron accumulation 2A	.		133
HP:0000504	HP:0100704	Cerebral visual impairment	2	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent
HP:0000504	HP:0007663	Reduced visual acuity	2	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included			11
HP:0000504	HP:0007663	Reduced visual acuity	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0000504	HP:0000572	Visual loss	2	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	HP:0040284 - Very rare
HP:0000504	HP:0001123	Visual field defect	2	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0000504	HP:0001123	Visual field defect	2	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0000504	HP:0000572	Visual loss	2	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0000504	HP:0007663	Reduced visual acuity	2	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.		60
HP:0000504	HP:0007663	Reduced visual acuity	2	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent		60
HP:0000504	HP:0001123	Visual field defect	2	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20			3
HP:0000504	HP:0007641	Dyschromatopsia	2	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20			3
HP:0000504	HP:0007663	Reduced visual acuity	2	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	.		3
HP:0000504	HP:0000651	Diplopia	2	PODXL CL E G H	5420	9171	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		6
HP:0000504	HP:0007663	Reduced visual acuity	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0000504	HP:0000572	Visual loss	2	POLA1 CL E G H	5422	9173	OMIM:301220	PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR			2
HP:0000504	HP:0007663	Reduced visual acuity	2	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome			464
HP:0000504	HP:0100704	Cerebral visual impairment	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		464
HP:0000504	HP:0007641	Dyschromatopsia	2	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0000504	HP:0000651	Diplopia	2	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			464
HP:0000504	HP:0000572	Visual loss	2	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0000504	HP:0100704	Cerebral visual impairment	2	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0000504	HP:0000651	Diplopia	2	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1			464
HP:0000504	HP:0000651	Diplopia	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0000504	HP:0007641	Dyschromatopsia	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	HP:0040283 - Occasional		464
HP:0000504	HP:0100704	Cerebral visual impairment	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		45
HP:0000504	HP:0000572	Visual loss	2	POLG2 CL E G H	11232	9180	OMIM:619425	MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B			45
HP:0000504	HP:0100704	Cerebral visual impairment	2	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	HP:0040283 - Occasional		45
HP:0000504	HP:0100704	Cerebral visual impairment	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000504	HP:0007663	Reduced visual acuity	2	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000504	HP:0007663	Reduced visual acuity	2	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0000504	HP:0007663	Reduced visual acuity	2	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0000504	HP:0007675	Progressive night blindness	2	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0000504	HP:0001123	Visual field defect	2	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0000504	HP:0007663	Reduced visual acuity	2	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0000504	HP:0007663	Reduced visual acuity	2	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0000504	HP:0007663	Reduced visual acuity	2	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.		18
HP:0000504	HP:0007663	Reduced visual acuity	2	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0000504	HP:0007663	Reduced visual acuity	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0000504	HP:0007663	Reduced visual acuity	2	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0000504	HP:0007663	Reduced visual acuity	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0000504	HP:0007663	Reduced visual acuity	2	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0000504	HP:0001123	Visual field defect	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000504	HP:0007663	Reduced visual acuity	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000504	HP:0007675	Progressive night blindness	2	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000504	HP:0100704	Cerebral visual impairment	2	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0000504	HP:0100704	Cerebral visual impairment	2	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent		13
HP:0000504	HP:0100704	Cerebral visual impairment	2	PPP3CA CL E G H	5530	9314	OMIM:617711	Epileptic encephalopathy, infantile or early childhood, 1	HP:0040284 - Very rare		2
HP:0000504	HP:0000572	Visual loss	2	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0000504	HP:0007663	Reduced visual acuity	2	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0000504	HP:0007663	Reduced visual acuity	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000504	HP:0007663	Reduced visual acuity	2	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0000504	HP:0007675	Progressive night blindness	2	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0000504	HP:0000572	Visual loss	2	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		58
HP:0000504	HP:0007663	Reduced visual acuity	2	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0000504	HP:0007663	Reduced visual acuity	2	PRIMPOL CL E G H	201973	26575	OMIM:615420	Myopia 22, autosomal dominant	.		1
HP:0000504	HP:0000651	Diplopia	2	PRKN CL E G H	5071	8607	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		138
HP:0000504	HP:0000651	Diplopia	2	PRNP CL E G H	5621	9449	OMIM:600072	Fatal familial insomnia	.		69
HP:0000504	HP:0001123	Visual field defect	2	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000504	HP:0007663	Reduced visual acuity	2	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000504	HP:0001123	Visual field defect	2	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2			110
HP:0000504	HP:0007641	Dyschromatopsia	2	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2	.		110
HP:0000504	HP:0007663	Reduced visual acuity	2	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2	.		110
HP:0000504	HP:0007663	Reduced visual acuity	2	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0000504	HP:0007675	Progressive night blindness	2	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0000504	HP:0001123	Visual field defect	2	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000504	HP:0007663	Reduced visual acuity	2	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000504	HP:0001123	Visual field defect	2	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease			110
HP:0000504	HP:0007663	Reduced visual acuity	2	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040280 - Obligate		110
HP:0000504	HP:0007663	Reduced visual acuity	2	PROM1 CL E G H	8842	9454	OMIM:603786	Stargardt disease 4	.		110
HP:0000504	HP:0001123	Visual field defect	2	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000504	HP:0007663	Reduced visual acuity	2	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive			75
HP:0000504	HP:0007663	Reduced visual acuity	2	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0000504	HP:0007675	Progressive night blindness	2	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000504	HP:0001123	Visual field defect	2	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18			28
HP:0000504	HP:0007663	Reduced visual acuity	2	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0000504	HP:0007675	Progressive night blindness	2	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0000504	HP:0001123	Visual field defect	2	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0000504	HP:0007663	Reduced visual acuity	2	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0000504	HP:0007663	Reduced visual acuity	2	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0000504	HP:0007675	Progressive night blindness	2	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000504	HP:0007663	Reduced visual acuity	2	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0000504	HP:0007675	Progressive night blindness	2	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0000504	HP:0007663	Reduced visual acuity	2	PRPF6 CL E G H	24148	15860	OMIM:613983	Retinitis pigmentosa 60	.		51
HP:0000504	HP:0007663	Reduced visual acuity	2	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0000504	HP:0007675	Progressive night blindness	2	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0000504	HP:0001123	Visual field defect	2	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13			94
HP:0000504	HP:0001123	Visual field defect	2	PRPH2 CL E G H	5961	9942	ORPHA:99000	Adult-onset foveomacular vitelliform dystrophy	HP:0040282 - Frequent		159
HP:0000504	HP:0000572	Visual loss	2	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		159
HP:0000504	HP:0007641	Dyschromatopsia	2	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040284 - Very rare		159
HP:0000504	HP:0007663	Reduced visual acuity	2	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		159
HP:0000504	HP:0007642	Congenital stationary night blindness	2	PRPH2 CL E G H	5961	9942	OMIM:136880	Fundus albipunctatus			159
HP:0000504	HP:0007663	Reduced visual acuity	2	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	.		159
HP:0000504	HP:0007663	Reduced visual acuity	2	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0000504	HP:0007675	Progressive night blindness	2	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0000504	HP:0001123	Visual field defect	2	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7			159
HP:0000504	HP:0007830	Adult-onset night blindness	2	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7	.		159
HP:0000504	HP:0000572	Visual loss	2	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000504	HP:0001123	Visual field defect	2	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000504	HP:0007675	Progressive night blindness	2	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		159
HP:0000504	HP:0001123	Visual field defect	2	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease			159
HP:0000504	HP:0007663	Reduced visual acuity	2	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040280 - Obligate		159
HP:0000504	HP:0000572	Visual loss	2	PRPS1 CL E G H	5631	9462	OMIM:301835	Arts syndrome	.		49
HP:0000504	HP:0000572	Visual loss	2	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0000504	HP:0007663	Reduced visual acuity	2	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0000504	HP:0007663	Reduced visual acuity	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000504	HP:0000651	Diplopia	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		94
HP:0000504	HP:0001123	Visual field defect	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0000504	HP:0100704	Cerebral visual impairment	2	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0000504	HP:0000572	Visual loss	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0000504	HP:0007663	Reduced visual acuity	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0000504	HP:0007663	Reduced visual acuity	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		81
HP:0000504	HP:0007663	Reduced visual acuity	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		81
HP:0000504	HP:0007663	Reduced visual acuity	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		81
HP:0000504	HP:0100704	Cerebral visual impairment	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0000504	HP:0100704	Cerebral visual impairment	2	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0000504	HP:0100704	Cerebral visual impairment	2	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0000504	HP:0100704	Cerebral visual impairment	2	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		665
HP:0000504	HP:0100704	Cerebral visual impairment	2	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		665
HP:0000504	HP:0000572	Visual loss	2	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000504	HP:0007663	Reduced visual acuity	2	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0000504	HP:0000572	Visual loss	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000504	HP:0000651	Diplopia	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000504	HP:0001123	Visual field defect	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0000504	HP:0000572	Visual loss	2	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0000504	HP:0007663	Reduced visual acuity	2	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0000504	HP:0007663	Reduced visual acuity	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent		19
HP:0000504	HP:0007663	Reduced visual acuity	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0000504	HP:0000651	Diplopia	2	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	HP:0040284 - Very rare		1
HP:0000504	HP:0007663	Reduced visual acuity	2	PXDN CL E G H	7837	14966	OMIM:269400	Corneal opacification with other ocular anomalies			22
HP:0000504	HP:0100704	Cerebral visual impairment	2	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional		11
HP:0000504	HP:0100704	Cerebral visual impairment	2	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		85
HP:0000504	HP:0100704	Cerebral visual impairment	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3			85
HP:0000504	HP:0001123	Visual field defect	2	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18			6
HP:0000504	HP:0100704	Cerebral visual impairment	2	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		90
HP:0000504	HP:0100704	Cerebral visual impairment	2	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		135
HP:0000504	HP:0007663	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			3
HP:0000504	HP:0100704	Cerebral visual impairment	2	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0000504	HP:0000651	Diplopia	2	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		73
HP:0000504	HP:0001123	Visual field defect	2	RAX2 CL E G H	84839	18286	OMIM:620102				52
HP:0000504	HP:0007663	Reduced visual acuity	2	RAX2 CL E G H	84839	18286	OMIM:620102				52
HP:0000504	HP:0000572	Visual loss	2	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11			52
HP:0000504	HP:0001123	Visual field defect	2	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa			108
HP:0000504	HP:0007663	Reduced visual acuity	2	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0000504	HP:0007675	Progressive night blindness	2	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0000504	HP:0001123	Visual field defect	2	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66			108
HP:0000504	HP:0007663	Reduced visual acuity	2	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66	.		108
HP:0000504	HP:0007663	Reduced visual acuity	2	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	.		8
HP:0000504	HP:0007663	Reduced visual acuity	2	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA			8
HP:0000504	HP:0007663	Reduced visual acuity	2	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis			95
HP:0000504	HP:0007663	Reduced visual acuity	2	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12			95
HP:0000504	HP:0000572	Visual loss	2	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0000504	HP:0001123	Visual field defect	2	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome			2
HP:0000504	HP:0007675	Progressive night blindness	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:0000504	HP:0007663	Reduced visual acuity	2	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis			45
HP:0000504	HP:0007663	Reduced visual acuity	2	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13			45
HP:0000504	HP:0007663	Reduced visual acuity	2	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0000504	HP:0007675	Progressive night blindness	2	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000504	HP:0007642	Congenital stationary night blindness	2	RDH5 CL E G H	5959	9940	OMIM:136880	Fundus albipunctatus			32
HP:0000504	HP:0000572	Visual loss	2	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000504	HP:0001123	Visual field defect	2	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000504	HP:0007675	Progressive night blindness	2	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		32
HP:0000504	HP:0007663	Reduced visual acuity	2	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0000504	HP:0007675	Progressive night blindness	2	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000504	HP:0007663	Reduced visual acuity	2	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77	.		5
HP:0000504	HP:0100704	Cerebral visual impairment	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0000504	HP:0007663	Reduced visual acuity	2	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0000504	HP:0007663	Reduced visual acuity	2	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0000504	HP:0007675	Progressive night blindness	2	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000504	HP:0001123	Visual field defect	2	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0000504	HP:0007642	Congenital stationary night blindness	2	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness			107
HP:0000504	HP:0007663	Reduced visual acuity	2	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		107
HP:0000504	HP:0007642	Congenital stationary night blindness	2	RHO CL E G H	6010	10012	OMIM:136880	Fundus albipunctatus			107
HP:0000504	HP:0001123	Visual field defect	2	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1	.		107
HP:0000504	HP:0007642	Congenital stationary night blindness	2	RHO CL E G H	6010	10012	OMIM:610445	Night blindness, congenital stationary, autosomal dominant 1			107
HP:0000504	HP:0007663	Reduced visual acuity	2	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0000504	HP:0007675	Progressive night blindness	2	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0000504	HP:0001123	Visual field defect	2	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4	.		107
HP:0000504	HP:0007663	Reduced visual acuity	2	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4			107
HP:0000504	HP:0000572	Visual loss	2	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000504	HP:0001123	Visual field defect	2	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000504	HP:0007675	Progressive night blindness	2	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		107
HP:0000504	HP:0007663	Reduced visual acuity	2	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0000504	HP:0007663	Reduced visual acuity	2	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000504	HP:0000651	Diplopia	2	RILPL1 CL E G H	353116	26814	OMIM:619790	OCULOPHARYNGODISTAL MYOPATHY 4; OPDM4
HP:0000504	HP:0007663	Reduced visual acuity	2	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0000504	HP:0000572	Visual loss	2	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0000504	HP:0001123	Visual field defect	2	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040281 - Very frequent		47
HP:0000504	HP:0007642	Congenital stationary night blindness	2	RLBP1 CL E G H	6017	10024	OMIM:136880	Fundus albipunctatus			47
HP:0000504	HP:0001123	Visual field defect	2	RLBP1 CL E G H	6017	10024	OMIM:607476	NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD			47
HP:0000504	HP:0007663	Reduced visual acuity	2	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0000504	HP:0007675	Progressive night blindness	2	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000504	HP:0000572	Visual loss	2	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000504	HP:0001123	Visual field defect	2	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000504	HP:0007675	Progressive night blindness	2	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		47
HP:0000504	HP:0100704	Cerebral visual impairment	2	RNF13 CL E G H	11342	10057	OMIM:618379	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73; DEE73
HP:0000504	HP:0100704	Cerebral visual impairment	2	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040282 - Frequent
HP:0000504	HP:0001123	Visual field defect	2	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0000504	HP:0001123	Visual field defect	2	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa			38
HP:0000504	HP:0007663	Reduced visual acuity	2	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0000504	HP:0007675	Progressive night blindness	2	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0000504	HP:0001123	Visual field defect	2	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7			38
HP:0000504	HP:0007830	Adult-onset night blindness	2	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7	.		38
HP:0000504	HP:0007663	Reduced visual acuity	2	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000504	HP:0007663	Reduced visual acuity	2	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0000504	HP:0007675	Progressive night blindness	2	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0000504	HP:0001123	Visual field defect	2	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0000504	HP:0007663	Reduced visual acuity	2	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0000504	HP:0000572	Visual loss	2	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0000504	HP:0007663	Reduced visual acuity	2	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0000504	HP:0007675	Progressive night blindness	2	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0000504	HP:0007663	Reduced visual acuity	2	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0000504	HP:0007663	Reduced visual acuity	2	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0000504	HP:0007675	Progressive night blindness	2	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000504	HP:0001123	Visual field defect	2	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000504	HP:0007663	Reduced visual acuity	2	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0000504	HP:0007675	Progressive night blindness	2	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000504	HP:0001123	Visual field defect	2	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9			14
HP:0000504	HP:0007663	Reduced visual acuity	2	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis			129
HP:0000504	HP:0007663	Reduced visual acuity	2	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II	.		129
HP:0000504	HP:0007663	Reduced visual acuity	2	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0000504	HP:0007675	Progressive night blindness	2	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0000504	HP:0007663	Reduced visual acuity	2	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20			129
HP:0000504	HP:0001123	Visual field defect	2	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87			129
HP:0000504	HP:0001123	Visual field defect	2	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000504	HP:0007663	Reduced visual acuity	2	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		129
HP:0000504	HP:0001123	Visual field defect	2	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0000504	HP:0007663	Reduced visual acuity	2	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		200
HP:0000504	HP:0007803	Monochromacy	2	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		200
HP:0000504	HP:0030584	Color vision test abnormality	2	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040281 - Very frequent		200
HP:0000504	HP:0007663	Reduced visual acuity	2	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1			200
HP:0000504	HP:0007663	Reduced visual acuity	2	RPGR CL E G H	6103	10295	OMIM:300834	MACULAR DEGENERATION, X-LINKED ATROPHIC			200
HP:0000504	HP:0007663	Reduced visual acuity	2	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0000504	HP:0007675	Progressive night blindness	2	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0000504	HP:0001123	Visual field defect	2	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000504	HP:0007663	Reduced visual acuity	2	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000504	HP:0007663	Reduced visual acuity	2	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0000504	HP:0007663	Reduced visual acuity	2	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis			109
HP:0000504	HP:0007663	Reduced visual acuity	2	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0000504	HP:0001123	Visual field defect	2	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0000504	HP:0007663	Reduced visual acuity	2	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0000504	HP:0100704	Cerebral visual impairment	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		125
HP:0000504	HP:0001123	Visual field defect	2	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000504	HP:0000572	Visual loss	2	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000504	HP:0001123	Visual field defect	2	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000504	HP:0007663	Reduced visual acuity	2	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000504	HP:0007642	Congenital stationary night blindness	2	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness			32
HP:0000504	HP:0007663	Reduced visual acuity	2	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		32
HP:0000504	HP:0000651	Diplopia	2	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease	HP:0040284 - Very rare		32
HP:0000504	HP:0007642	Congenital stationary night blindness	2	SAG CL E G H	6295	10521	ORPHA:75382	Oguchi disease	HP:0040281 - Very frequent		32
HP:0000504	HP:0007642	Congenital stationary night blindness	2	SAG CL E G H	6295	10521	OMIM:258100	Oguchi disease 1	.		32
HP:0000504	HP:0007663	Reduced visual acuity	2	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0000504	HP:0007675	Progressive night blindness	2	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0000504	HP:0007663	Reduced visual acuity	2	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0000504	HP:0007663	Reduced visual acuity	2	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0000504	HP:0000651	Diplopia	2	SAMD9L CL E G H	219285	1349	OMIM:619806	SPINOCEREBELLAR ATAXIA 49; SCA49			4
HP:0000504	HP:0007663	Reduced visual acuity	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000504	HP:0007663	Reduced visual acuity	2	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa	.
HP:0000504	HP:0007663	Reduced visual acuity	2	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0000504	HP:0007675	Progressive night blindness	2	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0100704	Cerebral visual impairment	2	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)	.		1053
HP:0000504	HP:0000651	Diplopia	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		1053
HP:0000504	HP:0001123	Visual field defect	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0000504	HP:0007663	Reduced visual acuity	2	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3			1053
HP:0000504	HP:0100704	Cerebral visual impairment	2	SCN3A CL E G H	6328	10590	OMIM:617938	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62; EIEE62			70
HP:0000504	HP:0000651	Diplopia	2	SCN4A CL E G H	6329	10591	ORPHA:99734	Myotonia fluctuans	HP:0040283 - Occasional		263
HP:0000504	HP:0000651	Diplopia	2	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040283 - Occasional		263
HP:0000504	HP:0007663	Reduced visual acuity	2	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0000504	HP:0000572	Visual loss	2	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0000504	HP:0007663	Reduced visual acuity	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0000504	HP:0000651	Diplopia	2	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000504	HP:0001123	Visual field defect	2	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000504	HP:0007663	Reduced visual acuity	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0000504	HP:0007663	Reduced visual acuity	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0000504	HP:0007663	Reduced visual acuity	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0000504	HP:0007663	Reduced visual acuity	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent
HP:0000504	HP:0100704	Cerebral visual impairment	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000504	HP:0007663	Reduced visual acuity	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0000504	HP:0000572	Visual loss	2	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10			48
HP:0000504	HP:0001123	Visual field defect	2	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10			48
HP:0000504	HP:0001123	Visual field defect	2	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0000504	HP:0007663	Reduced visual acuity	2	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0000504	HP:0007675	Progressive night blindness	2	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000504	HP:0007663	Reduced visual acuity	2	SEMA4A CL E G H	64218	10729	OMIM:610282	Retinitis pigmentosa 35			48
HP:0000504	HP:0100704	Cerebral visual impairment	2	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		66
HP:0000504	HP:0007663	Reduced visual acuity	2	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		66
HP:0000504	HP:0000651	Diplopia	2	SERPINI1 CL E G H	5274	8943	OMIM:604218	Encephalopathy, familial, with neuroserpin inclusion bodies	.		28
HP:0000504	HP:0001123	Visual field defect	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0000504	HP:0000572	Visual loss	2	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040281 - Very frequent		19
HP:0000504	HP:0007663	Reduced visual acuity	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000504	HP:0000572	Visual loss	2	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism			177
HP:0000504	HP:0001123	Visual field defect	2	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0000504	HP:0007663	Reduced visual acuity	2	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0000504	HP:0001123	Visual field defect	2	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000504	HP:0100704	Cerebral visual impairment	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0000504	HP:0100704	Cerebral visual impairment	2	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0000504	HP:0100704	Cerebral visual impairment	2	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0000504	HP:0100704	Cerebral visual impairment	2	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		67
HP:0000504	HP:0100704	Cerebral visual impairment	2	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		67
HP:0000504	HP:0100704	Cerebral visual impairment	2	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000504	HP:0100704	Cerebral visual impairment	2	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000504	HP:0100704	Cerebral visual impairment	2	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0000504	HP:0100704	Cerebral visual impairment	2	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000504	HP:0000651	Diplopia	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000504	HP:0000572	Visual loss	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0000504	HP:0000572	Visual loss	2	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040283 - Occasional		55
HP:0000504	HP:0000651	Diplopia	2	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6	HP:0040283 - Occasional		63
HP:0000504	HP:0007663	Reduced visual acuity	2	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6	HP:0040283 - Occasional		63
HP:0000504	HP:0000651	Diplopia	2	SLC1A3 CL E G H	6507	10941	OMIM:612656	Episodic ataxia, type 6	.		63
HP:0000504	HP:0007642	Congenital stationary night blindness	2	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness			66
HP:0000504	HP:0007663	Reduced visual acuity	2	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		66
HP:0000504	HP:0007642	Congenital stationary night blindness	2	SLC24A1 CL E G H	9187	10975	OMIM:613830	Night blindness, congenital stationary, type 1D	.		66
HP:0000504	HP:0007663	Reduced visual acuity	2	SLC24A1 CL E G H	9187	10975	OMIM:613830	Night blindness, congenital stationary, type 1D			66
HP:0000504	HP:0007663	Reduced visual acuity	2	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI	.		12
HP:0000504	HP:0007663	Reduced visual acuity	2	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6	HP:0040281 - Very frequent		12
HP:0000504	HP:0100704	Cerebral visual impairment	2	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	HP:0040283 - Occasional		28
HP:0000504	HP:0000651	Diplopia	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0000504	HP:0100704	Cerebral visual impairment	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		68
HP:0000504	HP:0000572	Visual loss	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000504	HP:0001123	Visual field defect	2	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000504	HP:0000572	Visual loss	2	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000504	HP:0000651	Diplopia	2	SLC2A1 CL E G H	6513	11005	OMIM:601042	Dystonia 9	.		255
HP:0000504	HP:0000651	Diplopia	2	SLC2A1 CL E G H	6513	11005	ORPHA:53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	HP:0040282 - Frequent		255
HP:0000504	HP:0100704	Cerebral visual impairment	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent		27
HP:0000504	HP:0007663	Reduced visual acuity	2	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	.		13
HP:0000504	HP:0007663	Reduced visual acuity	2	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.		5
HP:0000504	HP:0007663	Reduced visual acuity	2	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040281 - Very frequent		42
HP:0000504	HP:0007663	Reduced visual acuity	2	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II	HP:0040282 - Frequent		66
HP:0000504	HP:0007663	Reduced visual acuity	2	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness			66
HP:0000504	HP:0000572	Visual loss	2	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0000504	HP:0007663	Reduced visual acuity	2	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0000504	HP:0000572	Visual loss	2	SLC52A2 CL E G H	79581	30224	OMIM:614707	Brown-Vialetto-Van laere syndrome 2	HP:0040283 - Occasional		47
HP:0000504	HP:0000651	Diplopia	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0000504	HP:0001123	Visual field defect	2	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000504	HP:0007663	Reduced visual acuity	2	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0000504	HP:0007675	Progressive night blindness	2	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000504	HP:0001123	Visual field defect	2	SLC7A14 CL E G H	57709	29326	OMIM:615725	Retinitis pigmentosa 68	.		4
HP:0000504	HP:0007663	Reduced visual acuity	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0000504	HP:0007663	Reduced visual acuity	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0000504	HP:0000572	Visual loss	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000504	HP:0001123	Visual field defect	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000504	HP:0007663	Reduced visual acuity	2	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000504	HP:0000572	Visual loss	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000504	HP:0001123	Visual field defect	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000504	HP:0007663	Reduced visual acuity	2	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000504	HP:0100704	Cerebral visual impairment	2	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		135
HP:0000504	HP:0000572	Visual loss	2	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040282 - Frequent		174
HP:0000504	HP:0007663	Reduced visual acuity	2	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome			174
HP:0000504	HP:0007663	Reduced visual acuity	2	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0000504	HP:0000572	Visual loss	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000504	HP:0001123	Visual field defect	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000504	HP:0007663	Reduced visual acuity	2	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000504	HP:0000651	Diplopia	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000504	HP:0000651	Diplopia	2	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent		65
HP:0000504	HP:0000651	Diplopia	2	SNCA CL E G H	6622	11138	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		65
HP:0000504	HP:0007663	Reduced visual acuity	2	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0000504	HP:0007675	Progressive night blindness	2	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0000504	HP:0100704	Cerebral visual impairment	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0000504	HP:0007663	Reduced visual acuity	2	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0000504	HP:0000572	Visual loss	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0000504	HP:0100704	Cerebral visual impairment	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000504	HP:0100704	Cerebral visual impairment	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome	.		12
HP:0000504	HP:0000572	Visual loss	2	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0000504	HP:0000572	Visual loss	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0000504	HP:0001123	Visual field defect	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0000504	HP:0000572	Visual loss	2	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040282 - Frequent		33
HP:0000504	HP:0100704	Cerebral visual impairment	2	SPATA5 CL E G H	166378	18119	OMIM:616577	Epilepsy, hearing loss, and mental retardation syndrome	HP:0040283 - Occasional		19
HP:0000504	HP:0100704	Cerebral visual impairment	2	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:0000504	HP:0100704	Cerebral visual impairment	2	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0000504	HP:0007663	Reduced visual acuity	2	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis			48
HP:0000504	HP:0000572	Visual loss	2	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3			48
HP:0000504	HP:0001123	Visual field defect	2	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3			48
HP:0000504	HP:0007663	Reduced visual acuity	2	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0000504	HP:0007675	Progressive night blindness	2	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000504	HP:0001123	Visual field defect	2	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000504	HP:0007663	Reduced visual acuity	2	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		48
HP:0000504	HP:0000572	Visual loss	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000504	HP:0000651	Diplopia	2	SPTBN2 CL E G H	6712	11276	ORPHA:352403	Spectrin-associated autosomal recessive cerebellar ataxia	HP:0040283 - Occasional		126
HP:0000504	HP:0100704	Cerebral visual impairment	2	SPTBN4 CL E G H	57731	14896	OMIM:617519	Neurodevelopmental disorder with hypotonia, neuropathy, and deafness	.		3
HP:0000504	HP:0000572	Visual loss	2	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	HP:0040282 - Frequent		80
HP:0000504	HP:0000572	Visual loss	2	SRD5A3 CL E G H	79644	25812	ORPHA:324737	SRD5A3-CDG	HP:0040282 - Frequent		80
HP:0000504	HP:0007663	Reduced visual acuity	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0000504	HP:0000572	Visual loss	2	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0000504	HP:0100704	Cerebral visual impairment	2	ST3GAL5 CL E G H	8869	10872	OMIM:609056	Salt and pepper developmental regression syndrome	.		47
HP:0000504	HP:0100704	Cerebral visual impairment	2	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000504	HP:0100704	Cerebral visual impairment	2	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000504	HP:0007663	Reduced visual acuity	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0000504	HP:0000572	Visual loss	2	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0000504	HP:0007663	Reduced visual acuity	2	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0000504	HP:0000651	Diplopia	2	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare		1
HP:0000504	HP:0100704	Cerebral visual impairment	2	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0000504	HP:0100704	Cerebral visual impairment	2	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0000504	HP:0100704	Cerebral visual impairment	2	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		99
HP:0000504	HP:0100704	Cerebral visual impairment	2	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		99
HP:0000504	HP:0007663	Reduced visual acuity	2	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0000504	HP:0000572	Visual loss	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000504	HP:0001123	Visual field defect	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000504	HP:0007663	Reduced visual acuity	2	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000504	HP:0100704	Cerebral visual impairment	2	SUOX CL E G H	6821	11460	OMIM:272300	SULFOCYSTEINURIA			40
HP:0000504	HP:0000651	Diplopia	2	SYNJ1 CL E G H	8867	11503	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		9
HP:0000504	HP:0000651	Diplopia	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0000504	HP:0007663	Reduced visual acuity	2	TACSTD2 CL E G H	4070	11530	OMIM:204870	Corneal dystrophy, gelatinous drop-like	.		42
HP:0000504	HP:0100704	Cerebral visual impairment	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:0000504	HP:0007663	Reduced visual acuity	2	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0000504	HP:0007663	Reduced visual acuity	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000504	HP:0000572	Visual loss	2	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040283 - Occasional		43
HP:0000504	HP:0100704	Cerebral visual impairment	2	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040281 - Very frequent		15
HP:0000504	HP:0007663	Reduced visual acuity	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0000504	HP:0000572	Visual loss	2	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	.		271
HP:0000504	HP:0007663	Reduced visual acuity	2	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040283 - Occasional
HP:0000504	HP:0100704	Cerebral visual impairment	2	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0000504	HP:0007663	Reduced visual acuity	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0000504	HP:0000572	Visual loss	2	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0000504	HP:0007663	Reduced visual acuity	2	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0000504	HP:0007663	Reduced visual acuity	2	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0000504	HP:0000572	Visual loss	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.		140
HP:0000504	HP:0100704	Cerebral visual impairment	2	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000504	HP:0100704	Cerebral visual impairment	2	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0000504	HP:0100704	Cerebral visual impairment	2	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		1
HP:0000504	HP:0100704	Cerebral visual impairment	2	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		1
HP:0000504	HP:0000572	Visual loss	2	TEK CL E G H	7010	11724	ORPHA:98976	Congenital glaucoma	HP:0040283 - Occasional		78
HP:0000504	HP:0100704	Cerebral visual impairment	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040282 - Frequent		12
HP:0000504	HP:0100704	Cerebral visual impairment	2	TELO2 CL E G H	9894	29099	OMIM:616954	You-Hoover-Fong syndrome	HP:0040283 - Occasional		12
HP:0000504	HP:0007663	Reduced visual acuity	2	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0000504	HP:0000572	Visual loss	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000504	HP:0001123	Visual field defect	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000504	HP:0007663	Reduced visual acuity	2	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000504	HP:0007663	Reduced visual acuity	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000504	HP:0000572	Visual loss	2	TFG CL E G H	10342	11758	OMIM:615658	Spastic paraplegia 57, autosomal recessive	.		18
HP:0000504	HP:0000651	Diplopia	2	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0000504	HP:0007663	Reduced visual acuity	2	TGFBI CL E G H	7045	11771	OMIM:607541	Corneal dystrophy, Avellino type	.		58
HP:0000504	HP:0007663	Reduced visual acuity	2	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane			58
HP:0000504	HP:0000572	Visual loss	2	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I			58
HP:0000504	HP:0007663	Reduced visual acuity	2	TGFBI CL E G H	7045	11771	OMIM:608471	Corneal dystrophy, lattice type IIIA	.		58
HP:0000504	HP:0007663	Reduced visual acuity	2	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type			58
HP:0000504	HP:0007663	Reduced visual acuity	2	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I			58
HP:0000504	HP:0007663	Reduced visual acuity	2	TGFBI CL E G H	7045	11771	ORPHA:98963	Granular corneal dystrophy type II			58
HP:0000504	HP:0000572	Visual loss	2	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040281 - Very frequent		58
HP:0000504	HP:0000572	Visual loss	2	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy			58
HP:0000504	HP:0001123	Visual field defect	2	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0000504	HP:0001123	Visual field defect	2	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent		1
HP:0000504	HP:0100704	Cerebral visual impairment	2	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000504	HP:0100704	Cerebral visual impairment	2	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0000504	HP:0100704	Cerebral visual impairment	2	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		32
HP:0000504	HP:0100704	Cerebral visual impairment	2	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		32
HP:0000504	HP:0001123	Visual field defect	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040283 - Occasional		23
HP:0000504	HP:0001123	Visual field defect	2	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent		2
HP:0000504	HP:0000572	Visual loss	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional		15
HP:0000504	HP:0001123	Visual field defect	2	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome			15
HP:0000504	HP:0001123	Visual field defect	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0000504	HP:0100704	Cerebral visual impairment	2	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0000504	HP:0100704	Cerebral visual impairment	2	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional		15
HP:0000504	HP:0007663	Reduced visual acuity	2	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0000504	HP:0007663	Reduced visual acuity	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0000504	HP:0007663	Reduced visual acuity	2	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy			95
HP:0000504	HP:0000572	Visual loss	2	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040281 - Very frequent		95
HP:0000504	HP:0001123	Visual field defect	2	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy			95
HP:0000504	HP:0007663	Reduced visual acuity	2	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy			95
HP:0000504	HP:0007641	Dyschromatopsia	2	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		103
HP:0000504	HP:0007663	Reduced visual acuity	2	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0000504	HP:0007663	Reduced visual acuity	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0000504	HP:0001123	Visual field defect	2	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000504	HP:0007641	Dyschromatopsia	2	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	.		23
HP:0000504	HP:0007663	Reduced visual acuity	2	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	.		23
HP:0000504	HP:0007663	Reduced visual acuity	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0000504	HP:0007663	Reduced visual acuity	2	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0000504	HP:0007663	Reduced visual acuity	2	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0000504	HP:0007663	Reduced visual acuity	2	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0000504	HP:0007663	Reduced visual acuity	2	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0000504	HP:0000651	Diplopia	2	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040283 - Occasional		9
HP:0000504	HP:0100704	Cerebral visual impairment	2	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0000504	HP:0007663	Reduced visual acuity	2	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0000504	HP:0007663	Reduced visual acuity	2	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4	HP:0040283 - Occasional		3
HP:0000504	HP:0000572	Visual loss	2	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0000504	HP:0007663	Reduced visual acuity	2	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0000504	HP:0000651	Diplopia	2	TOP3A CL E G H	7156	11992	OMIM:618098	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	.
HP:0000504	HP:0007663	Reduced visual acuity	2	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0000504	HP:0007675	Progressive night blindness	2	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0000504	HP:0001123	Visual field defect	2	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31			61
HP:0000504	HP:0001123	Visual field defect	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0000504	HP:0000572	Visual loss	2	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2			203
HP:0000504	HP:0000651	Diplopia	2	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent		203
HP:0000504	HP:0000651	Diplopia	2	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.		203
HP:0000504	HP:0000572	Visual loss	2	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0000504	HP:0100704	Cerebral visual impairment	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	HP:0040284 - Very rare
HP:0000504	HP:0000572	Visual loss	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000504	HP:0001123	Visual field defect	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000504	HP:0007663	Reduced visual acuity	2	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000504	HP:0100704	Cerebral visual impairment	2	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:0000504	HP:0100704	Cerebral visual impairment	2	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.		2
HP:0000504	HP:0100704	Cerebral visual impairment	2	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	HP:0040284 - Very rare
HP:0000504	HP:0007642	Congenital stationary night blindness	2	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent		158
HP:0000504	HP:0001123	Visual field defect	2	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional		56
HP:0000504	HP:0000572	Visual loss	2	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0000504	HP:0000572	Visual loss	2	TRIM44 CL E G H	54765	19016	OMIM:617142	Aniridia 3			1
HP:0000504	HP:0000572	Visual loss	2	TRIM44 CL E G H	54765	19016	ORPHA:250923	Isolated aniridia	HP:0040281 - Very frequent		1
HP:0000504	HP:0007663	Reduced visual acuity	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0000504	HP:0001123	Visual field defect	2	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000572	Visual loss	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000504	HP:0001123	Visual field defect	2	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000572	Visual loss	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000504	HP:0001123	Visual field defect	2	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000572	Visual loss	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000504	HP:0001123	Visual field defect	2	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000572	Visual loss	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000504	HP:0001123	Visual field defect	2	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000572	Visual loss	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000504	HP:0001123	Visual field defect	2	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000572	Visual loss	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000504	HP:0001123	Visual field defect	2	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000572	Visual loss	2	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000504	HP:0001123	Visual field defect	2	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3
HP:0000504	HP:0001123	Visual field defect	2	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0000504	HP:0001123	Visual field defect	2	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000572	Visual loss	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0000504	HP:0001123	Visual field defect	2	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0000504	HP:0100704	Cerebral visual impairment	2	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0007642	Congenital stationary night blindness	2	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness			104
HP:0000504	HP:0007663	Reduced visual acuity	2	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		104
HP:0000504	HP:0007642	Congenital stationary night blindness	2	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000504	HP:0007663	Reduced visual acuity	2	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0000504	HP:0100704	Cerebral visual impairment	2	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		3
HP:0000504	HP:0007663	Reduced visual acuity	2	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		3
HP:0000504	HP:0100704	Cerebral visual impairment	2	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		84
HP:0000504	HP:0007663	Reduced visual acuity	2	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		84
HP:0000504	HP:0100704	Cerebral visual impairment	2	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B			84
HP:0000504	HP:0100704	Cerebral visual impairment	2	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		57
HP:0000504	HP:0007663	Reduced visual acuity	2	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		57
HP:0000504	HP:0100704	Cerebral visual impairment	2	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional		102
HP:0000504	HP:0007663	Reduced visual acuity	2	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		102
HP:0000504	HP:0007663	Reduced visual acuity	2	TSPAN12 CL E G H	23554	21641	OMIM:613310	Exudative vitreoretinopathy 5	HP:0040283 - Occasional		39
HP:0000504	HP:0007663	Reduced visual acuity	2	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		39
HP:0000504	HP:0007663	Reduced visual acuity	2	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0000504	HP:0007675	Progressive night blindness	2	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0000504	HP:0007663	Reduced visual acuity	2	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.		41
HP:0000504	HP:0007663	Reduced visual acuity	2	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0000504	HP:0007663	Reduced visual acuity	2	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity	.		1
HP:0000504	HP:0007663	Reduced visual acuity	2	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0000504	HP:0007675	Progressive night blindness	2	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000504	HP:0007663	Reduced visual acuity	2	TUBA3D CL E G H	113457	24071	OMIM:617928	Keratoconus 9	.
HP:0000504	HP:0001123	Visual field defect	2	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation			39
HP:0000504	HP:0000572	Visual loss	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0000504	HP:0007663	Reduced visual acuity	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000504	HP:0007663	Reduced visual acuity	2	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0000504	HP:0007663	Reduced visual acuity	2	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0000504	HP:0007663	Reduced visual acuity	2	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness	.
HP:0000504	HP:0100704	Cerebral visual impairment	2	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0000504	HP:0007663	Reduced visual acuity	2	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3	.		14
HP:0000504	HP:0007663	Reduced visual acuity	2	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis			66
HP:0000504	HP:0001123	Visual field defect	2	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15			66
HP:0000504	HP:0007663	Reduced visual acuity	2	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0000504	HP:0007675	Progressive night blindness	2	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0000504	HP:0001123	Visual field defect	2	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000504	HP:0007663	Reduced visual acuity	2	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000504	HP:0007663	Reduced visual acuity	2	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0000504	HP:0100704	Cerebral visual impairment	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		113
HP:0000504	HP:0000651	Diplopia	2	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)			138
HP:0000504	HP:0007663	Reduced visual acuity	2	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0000504	HP:0007663	Reduced visual acuity	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0000504	HP:0000572	Visual loss	2	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.		21
HP:0000504	HP:0007663	Reduced visual acuity	2	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0000504	HP:0000651	Diplopia	2	UCHL1 CL E G H	7345	12513	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		21
HP:0000504	HP:0007663	Reduced visual acuity	2	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0000504	HP:0007663	Reduced visual acuity	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0000504	HP:0007663	Reduced visual acuity	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0000504	HP:0000572	Visual loss	2	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0000504	HP:0001123	Visual field defect	2	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1			173
HP:0000504	HP:0000572	Visual loss	2	USH1C CL E G H	10083	12597	OMIM:276900	Usher syndrome, type I	.		173
HP:0000504	HP:0000572	Visual loss	2	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0000504	HP:0001123	Visual field defect	2	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1			78
HP:0000504	HP:0007663	Reduced visual acuity	2	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0000504	HP:0007675	Progressive night blindness	2	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0000504	HP:0001123	Visual field defect	2	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39	.		777
HP:0000504	HP:0000572	Visual loss	2	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		777
HP:0000504	HP:0001123	Visual field defect	2	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2			777
HP:0000504	HP:0007663	Reduced visual acuity	2	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0000504	HP:0001123	Visual field defect	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0000504	HP:0001123	Visual field defect	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0000504	HP:0000651	Diplopia	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0000504	HP:0100704	Cerebral visual impairment	2	VAMP2 CL E G H	6844	12643	OMIM:618760	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0000504	HP:0000572	Visual loss	2	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	.		180
HP:0000504	HP:0001123	Visual field defect	2	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	.		180
HP:0000504	HP:0000572	Visual loss	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0000504	HP:0100704	Cerebral visual impairment	2	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12	.		1
HP:0000504	HP:0007663	Reduced visual acuity	2	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0000504	HP:0100704	Cerebral visual impairment	2	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040281 - Very frequent		1
HP:0000504	HP:0007663	Reduced visual acuity	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0000504	HP:0000651	Diplopia	2	VPS13C CL E G H	54832	23594	ORPHA:2828	Young-onset Parkinson disease	HP:0040284 - Very rare		8
HP:0000504	HP:0000651	Diplopia	2	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040282 - Frequent		37
HP:0000504	HP:0100704	Cerebral visual impairment	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000504	HP:0000572	Visual loss	2	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000504	HP:0007663	Reduced visual acuity	2	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0000504	HP:0007663	Reduced visual acuity	2	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		47
HP:0000504	HP:0007663	Reduced visual acuity	2	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0000504	HP:0000572	Visual loss	2	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:0000504	HP:0007663	Reduced visual acuity	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:0000504	HP:0007663	Reduced visual acuity	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0000504	HP:0007663	Reduced visual acuity	2	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0000504	HP:0000572	Visual loss	2	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0000504	HP:0007663	Reduced visual acuity	2	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8	.		95
HP:0000504	HP:0007663	Reduced visual acuity	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0000504	HP:0007663	Reduced visual acuity	2	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0000504	HP:0001123	Visual field defect	2	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000504	HP:0007663	Reduced visual acuity	2	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000504	HP:0000572	Visual loss	2	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		155
HP:0000504	HP:0001123	Visual field defect	2	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2			155
HP:0000504	HP:0007663	Reduced visual acuity	2	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID			155
HP:0000504	HP:0007663	Reduced visual acuity	2	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0000504	HP:0007663	Reduced visual acuity	2	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0000504	HP:0007663	Reduced visual acuity	2	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0000504	HP:0000572	Visual loss	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040281 - Very frequent		5
HP:0000504	HP:0007663	Reduced visual acuity	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0000504	HP:0001123	Visual field defect	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000504	HP:0100704	Cerebral visual impairment	2	YIF1B CL E G H	90522	30511	OMIM:619125	KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0000504	HP:0007663	Reduced visual acuity	2	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0000504	HP:0007663	Reduced visual acuity	2	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6			8
HP:0000504	HP:0000572	Visual loss	2	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0000504	HP:0007663	Reduced visual acuity	2	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0000504	HP:0007663	Reduced visual acuity	2	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		8
HP:0000504	HP:0007663	Reduced visual acuity	2	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000504	HP:0007663	Reduced visual acuity	2	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.		189
HP:0000504	HP:0100704	Cerebral visual impairment	2	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0000504	HP:0100704	Cerebral visual impairment	2	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0000504	HP:0100704	Cerebral visual impairment	2	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040282 - Frequent		34
HP:0000504	HP:0100704	Cerebral visual impairment	2	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040282 - Frequent		34
HP:0000504	HP:0007663	Reduced visual acuity	2	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000504	HP:0000572	Visual loss	2	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6			14
HP:0000504	HP:0007663	Reduced visual acuity	2	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		14
HP:0000504	HP:0007663	Reduced visual acuity	2	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0000504	HP:0007675	Progressive night blindness	2	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000504	HP:0001123	Visual field defect	2	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72			14
HP:0000504	HP:0007663	Reduced visual acuity	2	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72	.		14
HP:0000504	HP:0007663	Reduced visual acuity	2	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0000504	HP:0000572	Visual loss	2	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		397
HP:0000504	HP:0000572	Visual loss	2	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0000504	HP:0007663	Reduced visual acuity	2	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0000504	HP:0007675	Progressive night blindness	2	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0000504	HP:0001123	Visual field defect	2	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0000504	HP:0007663	Reduced visual acuity	2	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0000504	HP:0000572	Visual loss	2	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent		1
HP:0000504	HP:0011518	Dichromacy	3	CL E G H
HP:0000504	HP:0030531	Altitudinal visual field defect	3	CL E G H
HP:0000504	HP:0030585	Red desaturation	3	CL E G H
HP:0000504	HP:0030587	Abnormal Hardy-Rand-Rittler plate test	3	CL E G H
HP:0000504	HP:0012377	Hemianopia	3	AARS1 CL E G H	16	20	OMIM:619661	LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2; HDLS2
HP:0000504	HP:0000575	Scotoma	3	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000504	HP:0000618	Blindness	3	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19			826
HP:0000504	HP:0000575	Scotoma	3	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease			826
HP:0000504	HP:0000618	Blindness	3	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0000504	HP:0000618	Blindness	3	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040284 - Very rare		135
HP:0000504	HP:0000575	Scotoma	3	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9			60
HP:0000504	HP:0000642	Red-green dyschromatopsia	3	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9	.		60
HP:0000504	HP:0000618	Blindness	3	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040282 - Frequent		72
HP:0000504	HP:0000646	Amblyopia	3	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		178
HP:0000504	HP:0000618	Blindness	3	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.		63
HP:0000504	HP:0000646	Amblyopia	3	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		84
HP:0000504	HP:0000575	Scotoma	3	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		530
HP:0000504	HP:0012377	Hemianopia	3	ADGRV1 CL E G H	84059	17416	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		530
HP:0000504	HP:0000646	Amblyopia	3	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare		47
HP:0000504	HP:0000646	Amblyopia	3	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:0000504	HP:0030586	Abnormal Ishihara plate test	3	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12			86
HP:0000504	HP:0000618	Blindness	3	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75			2
HP:0000504	HP:0000529	Progressive visual loss	3	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1			1
HP:0000504	HP:0000618	Blindness	3	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0000504	HP:0000618	Blindness	3	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000504	HP:0000529	Progressive visual loss	3	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		95
HP:0000504	HP:0000618	Blindness	3	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0000504	HP:0001117	Sudden loss of visual acuity	3	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0000504	HP:0012377	Hemianopia	3	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0000504	HP:0001141	Severely reduced visual acuity	3	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		114
HP:0000504	HP:0000618	Blindness	3	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.		114
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	AIPL1 CL E G H	23746	359	OMIM:268000	Retinitis pigmentosa	.		114
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0000504	HP:0000529	Progressive visual loss	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000504	HP:0000618	Blindness	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0000504	HP:0012377	Hemianopia	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000504	HP:0030532	Visual acuity test abnormality	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0000504	HP:0030588	Abnormal visual field test	3	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000504	HP:0012377	Hemianopia	3	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		19
HP:0000504	HP:0001141	Severely reduced visual acuity	3	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0000504	HP:0000618	Blindness	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0000504	HP:0000618	Blindness	3	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	AMACR CL E G H	23600	451	OMIM:614307	Alpha-methylacyl-CoA racemase deficiency			44
HP:0000504	HP:0012377	Hemianopia	3	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0000504	HP:0000646	Amblyopia	3	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000504	HP:0000646	Amblyopia	3	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		49
HP:0000504	HP:0000646	Amblyopia	3	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		48
HP:0000504	HP:0000646	Amblyopia	3	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		41
HP:0000504	HP:0000646	Amblyopia	3	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		18
HP:0000504	HP:0030532	Visual acuity test abnormality	3	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0000504	HP:0000529	Progressive visual loss	3	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1			39
HP:0000504	HP:0000618	Blindness	3	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0000504	HP:0000646	Amblyopia	3	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0000504	HP:0000618	Blindness	3	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000504	HP:0000529	Progressive visual loss	3	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35			1
HP:0000504	HP:0000618	Blindness	3	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000504	HP:0000618	Blindness	3	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	ARL6 CL E G H	84100	13210	OMIM:268000	Retinitis pigmentosa	.		29
HP:0000504	HP:0000618	Blindness	3	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0000504	HP:0000575	Scotoma	3	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000504	HP:0012377	Hemianopia	3	ARSG CL E G H	22901	24102	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000504	HP:0000575	Scotoma	3	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000504	HP:0007854	Glaucomatous visual field defect	3	ASB10 CL E G H	136371	17185	OMIM:603383	GLAUCOMA 1, OPEN ANGLE, F; GLC1F			54
HP:0000504	HP:0000618	Blindness	3	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0000504	HP:0000618	Blindness	3	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040283 - Occasional		48
HP:0000504	HP:0000575	Scotoma	3	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0000504	HP:0000575	Scotoma	3	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000504	HP:0011516	Achromatopsia	3	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000504	HP:0000618	Blindness	3	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0000504	HP:0000618	Blindness	3	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0000504	HP:0000618	Blindness	3	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000504	HP:0000646	Amblyopia	3	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0000504	HP:0032123	Ultra-low vision	3	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000504	HP:0000575	Scotoma	3	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		239
HP:0000504	HP:0000529	Progressive visual loss	3	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0000504	HP:0000618	Blindness	3	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0000504	HP:0000529	Progressive visual loss	3	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000618	Blindness	3	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0000504	HP:0030588	Abnormal visual field test	3	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000618	Blindness	3	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0000504	HP:0000618	Blindness	3	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional		169
HP:0000504	HP:0000529	Progressive visual loss	3	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:0000504	HP:0000618	Blindness	3	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040283 - Occasional		8
HP:0000504	HP:0000618	Blindness	3	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.		43
HP:0000504	HP:0000646	Amblyopia	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0000504	HP:0000618	Blindness	3	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.		17
HP:0000504	HP:0000529	Progressive visual loss	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000504	HP:0000618	Blindness	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0000504	HP:0012377	Hemianopia	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000504	HP:0030532	Visual acuity test abnormality	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0000504	HP:0030588	Abnormal visual field test	3	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000504	HP:0000618	Blindness	3	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0000504	HP:0000618	Blindness	3	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	BBS2 CL E G H	583	967	OMIM:616562	Retinitis pigmentosa 74	.		97
HP:0000504	HP:0000618	Blindness	3	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0000504	HP:0000618	Blindness	3	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0000504	HP:0000618	Blindness	3	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.		182
HP:0000504	HP:0000618	Blindness	3	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0000504	HP:0000529	Progressive visual loss	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0000504	HP:0000529	Progressive visual loss	3	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000504	HP:0001117	Sudden loss of visual acuity	3	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		276
HP:0000504	HP:0007987	Progressive visual field defects	3	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		276
HP:0000504	HP:0012377	Hemianopia	3	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000504	HP:0030588	Abnormal visual field test	3	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		276
HP:0000504	HP:0000575	Scotoma	3	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0000504	HP:0200068	Nonprogressive visual loss	3	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0000504	HP:0000618	Blindness	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0000504	HP:0000529	Progressive visual loss	3	C19ORF12 CL E G H	83636	25443	OMIM:614298	Neurodegeneration with brain iron accumulation 4	.		114
HP:0000504	HP:0000646	Amblyopia	3	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0000504	HP:0000575	Scotoma	3	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration	.		20
HP:0000504	HP:0000618	Blindness	3	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration	.		20
HP:0000504	HP:0000642	Red-green dyschromatopsia	3	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional		20
HP:0000504	HP:0001141	Severely reduced visual acuity	3	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent		20
HP:0000504	HP:0011519	Anomalous trichromacy	3	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000504	HP:0030532	Visual acuity test abnormality	3	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0000504	HP:0000618	Blindness	3	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0000504	HP:0000618	Blindness	3	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0000504	HP:0030638	Congenital stationary night blindness with normal fundus	3	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		94
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		94
HP:0000504	HP:0000575	Scotoma	3	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		449
HP:0000504	HP:0001141	Severely reduced visual acuity	3	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease	.		58
HP:0000504	HP:0000575	Scotoma	3	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000504	HP:0030638	Congenital stationary night blindness with normal fundus	3	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		58
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		58
HP:0000504	HP:0030638	Congenital stationary night blindness with normal fundus	3	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		129
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		129
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4	.		129
HP:0000504	HP:0000618	Blindness	3	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory			6
HP:0000504	HP:0000529	Progressive visual loss	3	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent		35
HP:0000504	HP:0000646	Amblyopia	3	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent		242
HP:0000504	HP:0000618	Blindness	3	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		247
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93			247
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000504	HP:0000618	Blindness	3	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000504	HP:0000618	Blindness	3	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare
HP:0000504	HP:0000646	Amblyopia	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000504	HP:0000529	Progressive visual loss	3	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		636
HP:0000504	HP:0000618	Blindness	3	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0000504	HP:0001117	Sudden loss of visual acuity	3	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0000504	HP:0012377	Hemianopia	3	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0000504	HP:0000529	Progressive visual loss	3	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent		636
HP:0000504	HP:0000618	Blindness	3	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000504	HP:0001117	Sudden loss of visual acuity	3	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000504	HP:0012377	Hemianopia	3	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000504	HP:0030588	Abnormal visual field test	3	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000504	HP:0000575	Scotoma	3	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0000504	HP:0012377	Hemianopia	3	CDH23 CL E G H	64072	13733	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		636
HP:0000504	HP:0000618	Blindness	3	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040281 - Very frequent		87
HP:0000504	HP:0000618	Blindness	3	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0000504	HP:0000529	Progressive visual loss	3	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0000504	HP:0000618	Blindness	3	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0000504	HP:0000618	Blindness	3	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15	HP:0040283 - Occasional		34
HP:0000504	HP:0000529	Progressive visual loss	3	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		34
HP:0000504	HP:0000618	Blindness	3	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0000504	HP:0000618	Blindness	3	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		342
HP:0000504	HP:0001141	Severely reduced visual acuity	3	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		342
HP:0000504	HP:0000529	Progressive visual loss	3	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		342
HP:0000504	HP:0000575	Scotoma	3	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		9
HP:0000504	HP:0012377	Hemianopia	3	CEP78 CL E G H	84131	25740	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		9
HP:0000504	HP:0000618	Blindness	3	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0000504	HP:0000575	Scotoma	3	CFAP410 CL E G H	755	1260	OMIM:617547	Retinal dystrophy with or without macular staphyloma
HP:0000504	HP:0000618	Blindness	3	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0000504	HP:0000529	Progressive visual loss	3	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0000504	HP:0000618	Blindness	3	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CFAP418 CL E G H	157657	27232	OMIM:268000	Retinitis pigmentosa	.
HP:0000504	HP:0000529	Progressive visual loss	3	CFH CL E G H	3075	4883	OMIM:126700	Basal laminar drusen	.		86
HP:0000504	HP:0000575	Scotoma	3	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen			86
HP:0000504	HP:0000529	Progressive visual loss	3	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0000504	HP:0000529	Progressive visual loss	3	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0000504	HP:0000575	Scotoma	3	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen			57
HP:0000504	HP:0000529	Progressive visual loss	3	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13	.		57
HP:0000504	HP:0000529	Progressive visual loss	3	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA	.		47
HP:0000504	HP:0000529	Progressive visual loss	3	CHM CL E G H	1121	1940	ORPHA:180	Choroideremia	HP:0040282 - Frequent		47
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA	.		47
HP:0000504	HP:0000646	Amblyopia	3	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0000504	HP:0000646	Amblyopia	3	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2			35
HP:0000504	HP:0000646	Amblyopia	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0000504	HP:0001141	Severely reduced visual acuity	3	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy	HP:0040282 - Frequent		129
HP:0000504	HP:0000575	Scotoma	3	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0000504	HP:0012377	Hemianopia	3	CIB2 CL E G H	10518	24579	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		15
HP:0000504	HP:0000646	Amblyopia	3	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000504	HP:0000618	Blindness	3	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040283 - Occasional		102
HP:0000504	HP:0000529	Progressive visual loss	3	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0000504	HP:0000618	Blindness	3	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0000504	HP:0000529	Progressive visual loss	3	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000504	HP:0000618	Blindness	3	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000504	HP:0000646	Amblyopia	3	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0000504	HP:0000529	Progressive visual loss	3	CLN5 CL E G H	1203	2076	OMIM:256731	Ceroid lipofuscinosis, neuronal, 5	.		141
HP:0000504	HP:0000529	Progressive visual loss	3	CLN6 CL E G H	54982	2077	OMIM:601780	Ceroid lipofuscinosis, neuronal, 6	.		143
HP:0000504	HP:0000529	Progressive visual loss	3	CLN8 CL E G H	2055	2079	OMIM:600143	Ceroid lipofuscinosis, neuronal, 8	.		111
HP:0000504	HP:0000529	Progressive visual loss	3	CLN8 CL E G H	2055	2079	ORPHA:1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	HP:0040282 - Frequent		111
HP:0000504	HP:0000618	Blindness	3	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CLRN1 CL E G H	7401	12605	OMIM:268000	Retinitis pigmentosa	.		60
HP:0000504	HP:0000575	Scotoma	3	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		60
HP:0000504	HP:0012377	Hemianopia	3	CLRN1 CL E G H	7401	12605	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent		60
HP:0000504	HP:0000618	Blindness	3	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CNGA1 CL E G H	1259	2148	OMIM:268000	Retinitis pigmentosa	.		44
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0000504	HP:0000575	Scotoma	3	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0000504	HP:0011516	Achromatopsia	3	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2	.		82
HP:0000504	HP:0000618	Blindness	3	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45			164
HP:0000504	HP:0000575	Scotoma	3	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0000504	HP:0001141	Severely reduced visual acuity	3	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.		194
HP:0000504	HP:0011516	Achromatopsia	3	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.		194
HP:0000504	HP:0000575	Scotoma	3	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease			194
HP:0000504	HP:0000575	Scotoma	3	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0000504	HP:0000646	Amblyopia	3	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		215
HP:0000504	HP:0000646	Amblyopia	3	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent		215
HP:0000504	HP:0000529	Progressive visual loss	3	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040281 - Very frequent		129
HP:0000504	HP:0000529	Progressive visual loss	3	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent		177
HP:0000504	HP:0000646	Amblyopia	3	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0000504	HP:0000618	Blindness	3	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.		284
HP:0000504	HP:0000646	Amblyopia	3	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.		193
HP:0000504	HP:0000646	Amblyopia	3	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		3
HP:0000504	HP:0032122	Very low visual acuity	3	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		3
HP:0000504	HP:0000646	Amblyopia	3	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		110
HP:0000504	HP:0000646	Amblyopia	3	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		110
HP:0000504	HP:0000646	Amblyopia	3	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		137
HP:0000504	HP:0000529	Progressive visual loss	3	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0012377	Hemianopia	3	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0012377	Hemianopia	3	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000529	Progressive visual loss	3	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0012377	Hemianopia	3	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000618	Blindness	3	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0000504	HP:0000646	Amblyopia	3	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0000504	HP:0001141	Severely reduced visual acuity	3	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		156
HP:0000504	HP:0000618	Blindness	3	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0000504	HP:0000618	Blindness	3	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0000504	HP:0000575	Scotoma	3	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000504	HP:0000618	Blindness	3	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2	.		158
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000504	HP:0001141	Severely reduced visual acuity	3	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		158
HP:0000504	HP:0000618	Blindness	3	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CRX CL E G H	1406	2383	OMIM:268000	Retinitis pigmentosa	.		158
HP:0000504	HP:0000646	Amblyopia	3	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types	.		33
HP:0000504	HP:0000646	Amblyopia	3	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types	HP:0040283 - Occasional		18
HP:0000504	HP:0000646	Amblyopia	3	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types	.		11
HP:0000504	HP:0000618	Blindness	3	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0000504	HP:0000529	Progressive visual loss	3	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000504	HP:0001117	Sudden loss of visual acuity	3	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		88
HP:0000504	HP:0007987	Progressive visual field defects	3	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		88
HP:0000504	HP:0012377	Hemianopia	3	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000504	HP:0030588	Abnormal visual field test	3	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		88
HP:0000504	HP:0000618	Blindness	3	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0000504	HP:0001141	Severely reduced visual acuity	3	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0000504	HP:0000618	Blindness	3	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000504	HP:0000575	Scotoma	3	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma			101
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma			101
HP:0000504	HP:0007854	Glaucomatous visual field defect	3	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		101
HP:0000504	HP:0000529	Progressive visual loss	3	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy	.		126
HP:0000504	HP:0000575	Scotoma	3	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy			126
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy	.		126
HP:0000504	HP:0000575	Scotoma	3	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0000504	HP:0000618	Blindness	3	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional		126
HP:0000504	HP:0001129	Large central visual field defect	3	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional		126
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040282 - Frequent		126
HP:0000504	HP:0001141	Severely reduced visual acuity	3	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional		126
HP:0000504	HP:0000529	Progressive visual loss	3	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0012377	Hemianopia	3	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000529	Progressive visual loss	3	DCN CL E G H	1634	2705	OMIM:610048	Corneal dystrophy, congenital stromal	.		31
HP:0000504	HP:0000618	Blindness	3	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0000504	HP:0000618	Blindness	3	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:0000504	HP:0000618	Blindness	3	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0000504	HP:0000529	Progressive visual loss	3	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000504	HP:0000575	Scotoma	3	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0000504	HP:0030515	Moderately reduced visual acuity	3	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		94
HP:0000504	HP:0000529	Progressive visual loss	3	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000504	HP:0000575	Scotoma	3	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000504	HP:0011519	Anomalous trichromacy	3	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5			94
HP:0000504	HP:0000646	Amblyopia	3	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0000504	HP:0000646	Amblyopia	3	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0000504	HP:0000575	Scotoma	3	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen			54
HP:0000504	HP:0000575	Scotoma	3	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma			54
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma			54
HP:0000504	HP:0007854	Glaucomatous visual field defect	3	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		54
HP:0000504	HP:0000618	Blindness	3	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040283 - Occasional		42
HP:0000504	HP:0000618	Blindness	3	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040283 - Occasional		24
HP:0000504	HP:0000618	Blindness	3	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040283 - Occasional		32
HP:0000504	HP:0000618	Blindness	3	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040283 - Occasional		38
HP:0000504	HP:0000618	Blindness	3	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040283 - Occasional		48
HP:0000504	HP:0000646	Amblyopia	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000504	HP:0000575	Scotoma	3	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease			62
HP:0000504	HP:0000646	Amblyopia	3	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2			4
HP:0000504	HP:0000646	Amblyopia	3	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		186
HP:0000504	HP:0000529	Progressive visual loss	3	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0000504	HP:0000646	Amblyopia	3	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0000504	HP:0000618	Blindness	3	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0000504	HP:0000618	Blindness	3	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0000504	HP:0000646	Amblyopia	3	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		12
HP:0000504	HP:0000575	Scotoma	3	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0000504	HP:0012377	Hemianopia	3	ESPN CL E G H	83715	13281	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		33
HP:0000504	HP:0000529	Progressive visual loss	3	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1			38
HP:0000504	HP:0000529	Progressive visual loss	3	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1			4
HP:0000504	HP:0000529	Progressive visual loss	3	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0000504	HP:0000618	Blindness	3	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0000504	HP:0000529	Progressive visual loss	3	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration			76
HP:0000504	HP:0000618	Blindness	3	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	FAM161A CL E G H	84140	25808	OMIM:606068	RETINITIS PIGMENTOSA 28; RP28			56
HP:0000504	HP:0000618	Blindness	3	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0000504	HP:0000646	Amblyopia	3	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		1361
HP:0000504	HP:0000618	Blindness	3	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.		1361
HP:0000504	HP:0000575	Scotoma	3	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0000504	HP:0000618	Blindness	3	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0000504	HP:0000642	Red-green dyschromatopsia	3	FGF14 CL E G H	2259	3671	ORPHA:98764	Spinocerebellar ataxia type 27	HP:0040283 - Occasional		47
HP:0000504	HP:0000646	Amblyopia	3	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		175
HP:0000504	HP:0000646	Amblyopia	3	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040283 - Occasional		175
HP:0000504	HP:0000646	Amblyopia	3	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0000504	HP:0000646	Amblyopia	3	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0000504	HP:0000646	Amblyopia	3	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		145
HP:0000504	HP:0000618	Blindness	3	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		157
HP:0000504	HP:0000618	Blindness	3	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0000504	HP:0000618	Blindness	3	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0000504	HP:0000646	Amblyopia	3	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		493
HP:0000504	HP:0000575	Scotoma	3	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0000504	HP:0000618	Blindness	3	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa	.	HP:0003581 - Adult onset	111
HP:0000504	HP:0000646	Amblyopia	3	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040282 - Frequent		92
HP:0000504	HP:0000618	Blindness	3	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		61
HP:0000504	HP:0000618	Blindness	3	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0000504	HP:0000618	Blindness	3	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent		353
HP:0000504	HP:0000618	Blindness	3	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent		263
HP:0000504	HP:0032037	Mildly reduced visual acuity	3	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked	.		38
HP:0000504	HP:0000618	Blindness	3	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0000504	HP:0000618	Blindness	3	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.		109
HP:0000504	HP:0000618	Blindness	3	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0000504	HP:0001141	Severely reduced visual acuity	3	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0000504	HP:0000618	Blindness	3	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000504	HP:0000646	Amblyopia	3	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0000504	HP:0000618	Blindness	3	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional		109
HP:0000504	HP:0000618	Blindness	3	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0000504	HP:0000618	Blindness	3	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0000504	HP:0000618	Blindness	3	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional		160
HP:0000504	HP:0000618	Blindness	3	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare		29
HP:0000504	HP:0000646	Amblyopia	3	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		8
HP:0000504	HP:0001141	Severely reduced visual acuity	3	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		64
HP:0000504	HP:0032123	Ultra-low vision	3	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17			64
HP:0000504	HP:0000618	Blindness	3	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0000504	HP:0000618	Blindness	3	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040281 - Very frequent		120
HP:0000504	HP:0000618	Blindness	3	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.		69
HP:0000504	HP:0000618	Blindness	3	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		34
HP:0000504	HP:0000618	Blindness	3	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0000504	HP:0012377	Hemianopia	3	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0000504	HP:0000618	Blindness	3	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.		101
HP:0000504	HP:0030638	Congenital stationary night blindness with normal fundus	3	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		39
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		39
HP:0000504	HP:0000618	Blindness	3	GNAT1 CL E G H	2779	4393	OMIM:610444	Night blindness, congenital stationary, autosomal dominant 3	.		39
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	GNAT1 CL E G H	2779	4393	OMIM:616389	Night blindness, congenital stationary, type 1G			39
HP:0000504	HP:0000575	Scotoma	3	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0000504	HP:0011516	Achromatopsia	3	GNAT2 CL E G H	2780	4394	OMIM:613856	ACHROMATOPSIA 4; ACHM4			19
HP:0000504	HP:0030638	Congenital stationary night blindness with normal fundus	3	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		5
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		5
HP:0000504	HP:0000618	Blindness	3	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		23
HP:0000504	HP:0000618	Blindness	3	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		8
HP:0000504	HP:0012377	Hemianopia	3	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0000504	HP:0000646	Amblyopia	3	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked	.		64
HP:0000504	HP:0030638	Congenital stationary night blindness with normal fundus	3	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		124
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		124
HP:0000504	HP:0000646	Amblyopia	3	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		33
HP:0000504	HP:0032122	Very low visual acuity	3	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		33
HP:0000504	HP:0000618	Blindness	3	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent		80
HP:0000504	HP:0030638	Congenital stationary night blindness with normal fundus	3	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		4
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		4
HP:0000504	HP:0030638	Congenital stationary night blindness with normal fundus	3	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		63
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		63
HP:0000504	HP:0000529	Progressive visual loss	3	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy			24
HP:0000504	HP:0000529	Progressive visual loss	3	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3	.		24
HP:0000504	HP:0000618	Blindness	3	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0000504	HP:0000529	Progressive visual loss	3	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy			124
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0000504	HP:0001141	Severely reduced visual acuity	3	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		124
HP:0000504	HP:0000618	Blindness	3	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0000504	HP:0011519	Anomalous trichromacy	3	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I			124
HP:0000504	HP:0000646	Amblyopia	3	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0000504	HP:0000646	Amblyopia	3	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000504	HP:0000575	Scotoma	3	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000504	HP:0012377	Hemianopia	3	HARS1 CL E G H	3035	4816	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000504	HP:0000618	Blindness	3	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0000504	HP:0000646	Amblyopia	3	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0000504	HP:0000646	Amblyopia	3	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0000504	HP:0000618	Blindness	3	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0000504	HP:0000618	Blindness	3	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	HGSNAT CL E G H	138050	26527	OMIM:616544	Retinitis pigmentosa 73	.		86
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79	.		11
HP:0000504	HP:0000575	Scotoma	3	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92			2
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92			2
HP:0000504	HP:0000575	Scotoma	3	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0000504	HP:0030644	Blind-spot enlargment	3	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent		4
HP:0000504	HP:0000618	Blindness	3	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0000504	HP:0000618	Blindness	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0000504	HP:0000529	Progressive visual loss	3	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1			262
HP:0000504	HP:0032123	Ultra-low vision	3	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000504	HP:0000618	Blindness	3	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0000504	HP:0001141	Severely reduced visual acuity	3	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0000504	HP:0000646	Amblyopia	3	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0000504	HP:0000618	Blindness	3	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040282 - Frequent		19
HP:0000504	HP:0000618	Blindness	3	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0000504	HP:0000618	Blindness	3	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0000504	HP:0000618	Blindness	3	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0000504	HP:0001141	Severely reduced visual acuity	3	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		148
HP:0000504	HP:0000618	Blindness	3	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0000504	HP:0000529	Progressive visual loss	3	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80	.		148
HP:0000504	HP:0000618	Blindness	3	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80	.		148
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0000504	HP:0000618	Blindness	3	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000504	HP:0000618	Blindness	3	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000504	HP:0000618	Blindness	3	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0000504	HP:0000618	Blindness	3	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000504	HP:0000618	Blindness	3	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000504	HP:0000618	Blindness	3	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0000504	HP:0001141	Severely reduced visual acuity	3	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		52
HP:0000504	HP:0000618	Blindness	3	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	.		52
HP:0000504	HP:0030515	Moderately reduced visual acuity	3	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4	.		4
HP:0000504	HP:0000618	Blindness	3	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000504	HP:0000575	Scotoma	3	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5			120
HP:0000504	HP:0030515	Moderately reduced visual acuity	3	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5	.		120
HP:0000504	HP:0000618	Blindness	3	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0000504	HP:0000529	Progressive visual loss	3	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		106
HP:0000504	HP:0001141	Severely reduced visual acuity	3	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		61
HP:0000504	HP:0000529	Progressive visual loss	3	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		61
HP:0000504	HP:0000618	Blindness	3	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		119
HP:0000504	HP:0000618	Blindness	3	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		69
HP:0000504	HP:0000618	Blindness	3	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		80
HP:0000504	HP:0000575	Scotoma	3	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities			3
HP:0000504	HP:0000529	Progressive visual loss	3	KARS1 CL E G H	3735	6215	OMIM:619196	DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000504	HP:0000646	Amblyopia	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0000504	HP:0001141	Severely reduced visual acuity	3	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		42
HP:0000504	HP:0000646	Amblyopia	3	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0000504	HP:0000575	Scotoma	3	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B	.		73
HP:0000504	HP:0000618	Blindness	3	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000529	Progressive visual loss	3	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0000504	HP:0000618	Blindness	3	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0000504	HP:0000646	Amblyopia	3	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0000504	HP:0000618	Blindness	3	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.		9
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0000504	HP:0000618	Blindness	3	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	KIZ CL E G H	55857	15865	OMIM:615780	Retinitis pigmentosa 69	.		3
HP:0000504	HP:0000618	Blindness	3	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0000504	HP:0000618	Blindness	3	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000504	HP:0000646	Amblyopia	3	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040282 - Frequent		35
HP:0000504	HP:0000646	Amblyopia	3	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.		35
HP:0000504	HP:0000618	Blindness	3	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.		92
HP:0000504	HP:0000618	Blindness	3	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0000504	HP:0001141	Severely reduced visual acuity	3	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		70
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0000504	HP:0000646	Amblyopia	3	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types	.		16
HP:0000504	HP:0000646	Amblyopia	3	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000504	HP:0000575	Scotoma	3	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type
HP:0000504	HP:0000618	Blindness	3	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		8
HP:0000504	HP:0000646	Amblyopia	3	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		4
HP:0000504	HP:0001141	Severely reduced visual acuity	3	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		62
HP:0000504	HP:0000618	Blindness	3	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14			62
HP:0000504	HP:0000618	Blindness	3	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	LRAT CL E G H	9227	6685	OMIM:268000	Retinitis pigmentosa	.		62
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0000504	HP:0030638	Congenital stationary night blindness with normal fundus	3	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		54
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		54
HP:0000504	HP:0000529	Progressive visual loss	3	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0000504	HP:0000529	Progressive visual loss	3	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040282 - Frequent		289
HP:0000504	HP:0000618	Blindness	3	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.		125
HP:0000504	HP:0000618	Blindness	3	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.		125
HP:0000504	HP:0000618	Blindness	3	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0000504	HP:0001141	Severely reduced visual acuity	3	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0000504	HP:0000618	Blindness	3	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0000504	HP:0000618	Blindness	3	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.		125
HP:0000504	HP:0001141	Severely reduced visual acuity	3	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent		125
HP:0000504	HP:0030515	Moderately reduced visual acuity	3	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040284 - Very rare		125
HP:0000504	HP:0030532	Visual acuity test abnormality	3	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0000504	HP:0000618	Blindness	3	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional		125
HP:0000504	HP:0000646	Amblyopia	3	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0000504	HP:0000618	Blindness	3	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0000504	HP:0000646	Amblyopia	3	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		11
HP:0000504	HP:0000646	Amblyopia	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0000504	HP:0000618	Blindness	3	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0000504	HP:0000529	Progressive visual loss	3	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		462
HP:0000504	HP:0000618	Blindness	3	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0000504	HP:0001117	Sudden loss of visual acuity	3	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0000504	HP:0012377	Hemianopia	3	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0000504	HP:0000618	Blindness	3	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0000504	HP:0000529	Progressive visual loss	3	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38	.		75
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	MERTK CL E G H	10461	7027	OMIM:613862	Retinitis pigmentosa 38			75
HP:0000504	HP:0000529	Progressive visual loss	3	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000504	HP:0000575	Scotoma	3	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI			203
HP:0000504	HP:0000618	Blindness	3	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.		120
HP:0000504	HP:0000575	Scotoma	3	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement			120
HP:0000504	HP:0000646	Amblyopia	3	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0000504	HP:0000646	Amblyopia	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0000504	HP:0012377	Hemianopia	3	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		68
HP:0000504	HP:0000618	Blindness	3	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	HP:0040283 - Occasional		217
HP:0000504	HP:0000575	Scotoma	3	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive
HP:0000504	HP:0000618	Blindness	3	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	HP:0040283 - Occasional		88
HP:0000504	HP:0000529	Progressive visual loss	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040282 - Frequent		81
HP:0000504	HP:0000575	Scotoma	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional		81
HP:0000504	HP:0000618	Blindness	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare		81
HP:0000504	HP:0000575	Scotoma	3	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0000504	HP:0012377	Hemianopia	3	MYO7A CL E G H	4647	7606	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		516
HP:0000504	HP:0000575	Scotoma	3	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		516
HP:0000504	HP:0012377	Hemianopia	3	MYO7A CL E G H	4647	7606	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		516
HP:0000504	HP:0000575	Scotoma	3	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma			47
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma			47
HP:0000504	HP:0007854	Glaucomatous visual field defect	3	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		47
HP:0000504	HP:0000618	Blindness	3	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0000504	HP:0200068	Nonprogressive visual loss	3	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.		25
HP:0000504	HP:0011516	Achromatopsia	3	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.		25
HP:0000504	HP:0000618	Blindness	3	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0000504	HP:0000529	Progressive visual loss	3	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0012377	Hemianopia	3	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000618	Blindness	3	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0000504	HP:0000529	Progressive visual loss	3	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000618	Blindness	3	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0000504	HP:0000529	Progressive visual loss	3	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000529	Progressive visual loss	3	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0000529	Progressive visual loss	3	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0012377	Hemianopia	3	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000529	Progressive visual loss	3	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0000504	HP:0000575	Scotoma	3	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0000504	HP:0012377	Hemianopia	3	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000618	Blindness	3	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040281 - Very frequent		96
HP:0000504	HP:0000618	Blindness	3	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000504	HP:0001141	Severely reduced visual acuity	3	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000504	HP:0000618	Blindness	3	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent		39
HP:0000504	HP:0000618	Blindness	3	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.	HP:0003593 - Infantile onset	39
HP:0000504	HP:0000618	Blindness	3	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000504	HP:0000646	Amblyopia	3	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0000504	HP:0000618	Blindness	3	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional		39
HP:0000504	HP:0000618	Blindness	3	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		7
HP:0000504	HP:0000618	Blindness	3	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		32
HP:0000504	HP:0000618	Blindness	3	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		1
HP:0000504	HP:0000618	Blindness	3	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		40
HP:0000504	HP:0000618	Blindness	3	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		26
HP:0000504	HP:0000618	Blindness	3	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		31
HP:0000504	HP:0000618	Blindness	3	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		50
HP:0000504	HP:0000618	Blindness	3	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		34
HP:0000504	HP:0000618	Blindness	3	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0000504	HP:0000618	Blindness	3	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0000504	HP:0000618	Blindness	3	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		3
HP:0000504	HP:0000618	Blindness	3	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0000504	HP:0000646	Amblyopia	3	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0000504	HP:0000618	Blindness	3	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		9
HP:0000504	HP:0000618	Blindness	3	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		16
HP:0000504	HP:0000618	Blindness	3	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		81
HP:0000504	HP:0000618	Blindness	3	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		65
HP:0000504	HP:0000529	Progressive visual loss	3	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy			65
HP:0000504	HP:0000575	Scotoma	3	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy			65
HP:0000504	HP:0000618	Blindness	3	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		22
HP:0000504	HP:0000618	Blindness	3	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		27
HP:0000504	HP:0000618	Blindness	3	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0000504	HP:0000618	Blindness	3	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		21
HP:0000504	HP:0000618	Blindness	3	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		38
HP:0000504	HP:0000618	Blindness	3	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		42
HP:0000504	HP:0000618	Blindness	3	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		74
HP:0000504	HP:0000618	Blindness	3	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0000504	HP:0000618	Blindness	3	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		27
HP:0000504	HP:0000618	Blindness	3	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000504	HP:0000529	Progressive visual loss	3	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0000504	HP:0000529	Progressive visual loss	3	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0000504	HP:0000529	Progressive visual loss	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent		1952
HP:0000504	HP:0000618	Blindness	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0000504	HP:0000529	Progressive visual loss	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000504	HP:0000618	Blindness	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0000504	HP:0012377	Hemianopia	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000504	HP:0030532	Visual acuity test abnormality	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0000504	HP:0030588	Abnormal visual field test	3	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000504	HP:0000618	Blindness	3	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0000504	HP:0000646	Amblyopia	3	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0000504	HP:0000646	Amblyopia	3	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0000504	HP:0001141	Severely reduced visual acuity	3	NHS CL E G H	4810	7820	OMIM:302200	Cataract, congenital total, with posterior sutural opacities in heterozygotes	.		88
HP:0000504	HP:0000618	Blindness	3	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040283 - Occasional		217
HP:0000504	HP:0001141	Severely reduced visual acuity	3	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		15
HP:0000504	HP:0032123	Ultra-low vision	3	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000504	HP:0000646	Amblyopia	3	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0000504	HP:0000529	Progressive visual loss	3	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		85
HP:0000504	HP:0000529	Progressive visual loss	3	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		157
HP:0000504	HP:0000529	Progressive visual loss	3	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		220
HP:0000504	HP:0000646	Amblyopia	3	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.		220
HP:0000504	HP:0001141	Severely reduced visual acuity	3	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.		220
HP:0000504	HP:0000618	Blindness	3	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0000504	HP:0000642	Red-green dyschromatopsia	3	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.		58
HP:0000504	HP:0011519	Anomalous trichromacy	3	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37			58
HP:0000504	HP:0000646	Amblyopia	3	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0000504	HP:0000618	Blindness	3	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0000504	HP:0000618	Blindness	3	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.		30
HP:0000504	HP:0000618	Blindness	3	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0000504	HP:0000618	Blindness	3	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		89
HP:0000504	HP:0030638	Congenital stationary night blindness with normal fundus	3	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		42
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		42
HP:0000504	HP:0000529	Progressive visual loss	3	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040281 - Very frequent		94
HP:0000504	HP:0000618	Blindness	3	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040282 - Frequent		94
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040282 - Frequent		94
HP:0000504	HP:0000618	Blindness	3	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency	.		94
HP:0000504	HP:0000646	Amblyopia	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent		88
HP:0000504	HP:0000618	Blindness	3	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000504	HP:0001141	Severely reduced visual acuity	3	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0000504	HP:0000646	Amblyopia	3	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0000504	HP:0000529	Progressive visual loss	3	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040281 - Very frequent		214
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040283 - Occasional		214
HP:0000504	HP:0000575	Scotoma	3	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0000504	HP:0030515	Moderately reduced visual acuity	3	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		214
HP:0000504	HP:0000529	Progressive visual loss	3	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome	.		214
HP:0000504	HP:0000618	Blindness	3	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0000504	HP:0000575	Scotoma	3	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000504	HP:0000642	Red-green dyschromatopsia	3	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.		214
HP:0000504	HP:0011519	Anomalous trichromacy	3	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1			214
HP:0000504	HP:0000575	Scotoma	3	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000504	HP:0000642	Red-green dyschromatopsia	3	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000504	HP:0011519	Anomalous trichromacy	3	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy			214
HP:0000504	HP:0000575	Scotoma	3	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0000504	HP:0000618	Blindness	3	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional		163
HP:0000504	HP:0000642	Red-green dyschromatopsia	3	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional		163
HP:0000504	HP:0011519	Anomalous trichromacy	3	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract			163
HP:0000504	HP:0000575	Scotoma	3	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3			163
HP:0000504	HP:0011517	Cone monochromacy	3	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy			7
HP:0000504	HP:0011517	Cone monochromacy	3	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism			7
HP:0000504	HP:0000642	Red-green dyschromatopsia	3	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series			7
HP:0000504	HP:0011519	Anomalous trichromacy	3	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series			7
HP:0000504	HP:0011517	Cone monochromacy	3	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy			5
HP:0000504	HP:0011517	Cone monochromacy	3	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism			5
HP:0000504	HP:0000642	Red-green dyschromatopsia	3	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series			5
HP:0000504	HP:0011519	Anomalous trichromacy	3	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series			5
HP:0000504	HP:0011519	Anomalous trichromacy	3	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA			3
HP:0000504	HP:0011519	Anomalous trichromacy	3	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia			3
HP:0000504	HP:0001141	Severely reduced visual acuity	3	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0000504	HP:0000646	Amblyopia	3	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		4
HP:0000504	HP:0032122	Very low visual acuity	3	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		4
HP:0000504	HP:0032037	Mildly reduced visual acuity	3	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration			5
HP:0000504	HP:0000646	Amblyopia	3	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0000504	HP:0000529	Progressive visual loss	3	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent
HP:0000504	HP:0000618	Blindness	3	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040284 - Very rare		55
HP:0000504	HP:0000618	Blindness	3	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040284 - Very rare		55
HP:0000504	HP:0030532	Visual acuity test abnormality	3	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia			194
HP:0000504	HP:0000646	Amblyopia	3	PAX6 CL E G H	5080	8620	ORPHA:35737	Morning glory disc anomaly	HP:0040281 - Very frequent		194
HP:0000504	HP:0000618	Blindness	3	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000575	Scotoma	3	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0000504	HP:0012377	Hemianopia	3	PCDH15 CL E G H	65217	14674	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		352
HP:0000504	HP:0001141	Severely reduced visual acuity	3	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		11
HP:0000504	HP:0000529	Progressive visual loss	3	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.		11
HP:0000504	HP:0000618	Blindness	3	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0000504	HP:0030638	Congenital stationary night blindness with normal fundus	3	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		126
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		126
HP:0000504	HP:0000618	Blindness	3	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0000504	HP:0000575	Scotoma	3	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0000504	HP:0000618	Blindness	3	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PDE6G CL E G H	5148	8789	OMIM:268000	Retinitis pigmentosa	.		18
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0000504	HP:0000575	Scotoma	3	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0000504	HP:0000529	Progressive visual loss	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000504	HP:0000618	Blindness	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0000504	HP:0012377	Hemianopia	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000504	HP:0030532	Visual acuity test abnormality	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0000504	HP:0030588	Abnormal visual field test	3	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000504	HP:0000618	Blindness	3	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		88
HP:0000504	HP:0000575	Scotoma	3	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		40
HP:0000504	HP:0012377	Hemianopia	3	PDZD7 CL E G H	79955	26257	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		40
HP:0000504	HP:0000646	Amblyopia	3	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		169
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		75
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		4
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		65
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		66
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		46
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		59
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		62
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		82
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		106
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		47
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		99
HP:0000504	HP:0000618	Blindness	3	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent		98
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		98
HP:0000504	HP:0000529	Progressive visual loss	3	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040283 - Occasional		72
HP:0000504	HP:0000618	Blindness	3	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040284 - Very rare		21
HP:0000504	HP:0000646	Amblyopia	3	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2	.		6
HP:0000504	HP:0000529	Progressive visual loss	3	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040283 - Occasional		45
HP:0000504	HP:0000646	Amblyopia	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0000504	HP:0000646	Amblyopia	3	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0000504	HP:0012377	Hemianopia	3	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040283 - Occasional		162
HP:0000504	HP:0000529	Progressive visual loss	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000504	HP:0000618	Blindness	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0000504	HP:0012377	Hemianopia	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000504	HP:0030532	Visual acuity test abnormality	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0000504	HP:0030588	Abnormal visual field test	3	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000504	HP:0000618	Blindness	3	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.		12
HP:0000504	HP:0000575	Scotoma	3	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5			135
HP:0000504	HP:0000646	Amblyopia	3	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea			51
HP:0000504	HP:0000618	Blindness	3	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types	.		6
HP:0000504	HP:0000618	Blindness	3	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional		133
HP:0000504	HP:0000618	Blindness	3	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.		11
HP:0000504	HP:0000618	Blindness	3	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.		105
HP:0000504	HP:0000529	Progressive visual loss	3	PNPLA6 CL E G H	10908	16268	OMIM:215470	Boucher-Neuhauser syndrome			103
HP:0000504	HP:0000575	Scotoma	3	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20			3
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	.		3
HP:0000504	HP:0011519	Anomalous trichromacy	3	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20			3
HP:0000504	HP:0000618	Blindness	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare		35
HP:0000504	HP:0000618	Blindness	3	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040283 - Occasional		464
HP:0000504	HP:0000646	Amblyopia	3	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000504	HP:0000618	Blindness	3	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		180
HP:0000504	HP:0000618	Blindness	3	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0000504	HP:0000618	Blindness	3	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		18
HP:0000504	HP:0000618	Blindness	3	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		213
HP:0000504	HP:0000618	Blindness	3	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0000504	HP:0000618	Blindness	3	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		221
HP:0000504	HP:0000618	Blindness	3	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome			40
HP:0000504	HP:0030532	Visual acuity test abnormality	3	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000504	HP:0000529	Progressive visual loss	3	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.		172
HP:0000504	HP:0000618	Blindness	3	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.	HP:0011463 - Childhood onset	172
HP:0000504	HP:0000618	Blindness	3	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0000504	HP:0000618	Blindness	3	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0000504	HP:0000575	Scotoma	3	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000504	HP:0000575	Scotoma	3	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2			110
HP:0000504	HP:0000618	Blindness	3	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000504	HP:0001141	Severely reduced visual acuity	3	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000504	HP:0000575	Scotoma	3	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease			110
HP:0000504	HP:0012377	Hemianopia	3	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000504	HP:0000618	Blindness	3	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.		75
HP:0000504	HP:0000618	Blindness	3	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000504	HP:0000575	Scotoma	3	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18	.		28
HP:0000504	HP:0007987	Progressive visual field defects	3	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18	.		28
HP:0000504	HP:0000618	Blindness	3	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0000504	HP:0000618	Blindness	3	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11	.		70
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0000504	HP:0000618	Blindness	3	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0000504	HP:0000618	Blindness	3	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0000504	HP:0000618	Blindness	3	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13	.		94
HP:0000504	HP:0000529	Progressive visual loss	3	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy			159
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	PRPH2 CL E G H	5961	9942	OMIM:136880	Fundus albipunctatus			159
HP:0000504	HP:0000618	Blindness	3	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7	.		159
HP:0000504	HP:0000529	Progressive visual loss	3	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		159
HP:0000504	HP:0000575	Scotoma	3	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0000504	HP:0007987	Progressive visual field defects	3	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		159
HP:0000504	HP:0000575	Scotoma	3	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease			159
HP:0000504	HP:0000529	Progressive visual loss	3	PRPS1 CL E G H	5631	9462	OMIM:311070	Charcot-Marie-Tooth disease, X-linked recessive, 5			49
HP:0000504	HP:0000618	Blindness	3	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent		49
HP:0000504	HP:0000646	Amblyopia	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0000504	HP:0000575	Scotoma	3	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		94
HP:0000504	HP:0000618	Blindness	3	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0000504	HP:0000646	Amblyopia	3	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0000504	HP:0000575	Scotoma	3	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18			6
HP:0000504	HP:0030515	Moderately reduced visual acuity	3	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:0000504	HP:0001133	Constriction of peripheral visual field	3	RAX2 CL E G H	84839	18286	OMIM:620102				52
HP:0000504	HP:0000529	Progressive visual loss	3	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11			52
HP:0000504	HP:0000618	Blindness	3	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	RBP3 CL E G H	5949	9921	OMIM:268000	Retinitis pigmentosa	.		108
HP:0000504	HP:0000575	Scotoma	3	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66			108
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66	.		108
HP:0000504	HP:0001141	Severely reduced visual acuity	3	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		95
HP:0000504	HP:0000618	Blindness	3	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12			95
HP:0000504	HP:0000529	Progressive visual loss	3	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent		2
HP:0000504	HP:0001141	Severely reduced visual acuity	3	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		45
HP:0000504	HP:0000618	Blindness	3	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	RDH5 CL E G H	5959	9940	OMIM:136880	Fundus albipunctatus			32
HP:0000504	HP:0000529	Progressive visual loss	3	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		32
HP:0000504	HP:0000575	Scotoma	3	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0000504	HP:0007987	Progressive visual field defects	3	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		32
HP:0000504	HP:0000618	Blindness	3	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0000504	HP:0000618	Blindness	3	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0000504	HP:0030638	Congenital stationary night blindness with normal fundus	3	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		107
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		107
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	RHO CL E G H	6010	10012	OMIM:136880	Fundus albipunctatus			107
HP:0000504	HP:0000618	Blindness	3	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0000504	HP:0000618	Blindness	3	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4	.		107
HP:0000504	HP:0000529	Progressive visual loss	3	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		107
HP:0000504	HP:0000575	Scotoma	3	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0000504	HP:0007987	Progressive visual field defects	3	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		107
HP:0000504	HP:0000646	Amblyopia	3	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0000504	HP:0000529	Progressive visual loss	3	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040281 - Very frequent		47
HP:0000504	HP:0000575	Scotoma	3	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy			47
HP:0000504	HP:0001129	Large central visual field defect	3	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional		47
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	RLBP1 CL E G H	6017	10024	OMIM:136880	Fundus albipunctatus			47
HP:0000504	HP:0000575	Scotoma	3	RLBP1 CL E G H	6017	10024	OMIM:607476	NEWFOUNDLAND ROD-CONE DYSTROPHY; NFRCD			47
HP:0000504	HP:0000618	Blindness	3	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0000504	HP:0000529	Progressive visual loss	3	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040281 - Very frequent		47
HP:0000504	HP:0000575	Scotoma	3	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0000504	HP:0007987	Progressive visual field defects	3	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		47
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0000504	HP:0000618	Blindness	3	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	ROM1 CL E G H	6094	10254	OMIM:268000	Retinitis pigmentosa	.		38
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7	.		38
HP:0000504	HP:0000646	Amblyopia	3	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0000504	HP:0000618	Blindness	3	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0000504	HP:0000575	Scotoma	3	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1	.		111
HP:0000504	HP:0000529	Progressive visual loss	3	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0000504	HP:0000618	Blindness	3	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0000504	HP:0000618	Blindness	3	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0000504	HP:0000575	Scotoma	3	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked	.		45
HP:0000504	HP:0000618	Blindness	3	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	RP9 CL E G H	6100	10288	OMIM:180104	Retinitis pigmentosa 9	.		14
HP:0000504	HP:0001141	Severely reduced visual acuity	3	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		129
HP:0000504	HP:0000618	Blindness	3	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II	.		129
HP:0000504	HP:0000618	Blindness	3	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0000504	HP:0001141	Severely reduced visual acuity	3	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20	.		129
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87			129
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0000504	HP:0000575	Scotoma	3	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0000504	HP:0000618	Blindness	3	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0000504	HP:0000575	Scotoma	3	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000504	HP:0001141	Severely reduced visual acuity	3	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		109
HP:0000504	HP:0001141	Severely reduced visual acuity	3	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6	.		109
HP:0000504	HP:0000646	Amblyopia	3	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000504	HP:0000529	Progressive visual loss	3	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile			148
HP:0000504	HP:0000575	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:0000504	HP:0030644	Blind-spot enlargment	3	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000504	HP:0030638	Congenital stationary night blindness with normal fundus	3	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		32
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		32
HP:0000504	HP:0000618	Blindness	3	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0000504	HP:0000646	Amblyopia	3	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0000504	HP:0000618	Blindness	3	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0000504	HP:0000618	Blindness	3	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0000504	HP:0000575	Scotoma	3	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		1053
HP:0000504	HP:0000618	Blindness	3	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3	.		1053
HP:0000504	HP:0000646	Amblyopia	3	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	HP:0040283 - Occasional		357
HP:0000504	HP:0000529	Progressive visual loss	3	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		61
HP:0000504	HP:0000618	Blindness	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		304
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000504	HP:0000618	Blindness	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		16
HP:0000504	HP:0000618	Blindness	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		237
HP:0000504	HP:0000618	Blindness	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		129
HP:0000504	HP:0000529	Progressive visual loss	3	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10	.		48
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10			48
HP:0000504	HP:0000618	Blindness	3	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000504	HP:0000618	Blindness	3	SEMA4A CL E G H	64218	10729	OMIM:610282	Retinitis pigmentosa 35	.		48
HP:0000504	HP:0012377	Hemianopia	3	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0000504	HP:0000646	Amblyopia	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0000504	HP:0000529	Progressive visual loss	3	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040283 - Occasional		177
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C			493
HP:0000504	HP:0030638	Congenital stationary night blindness with normal fundus	3	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		66
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		66
HP:0000504	HP:0000618	Blindness	3	SLC24A1 CL E G H	9187	10975	OMIM:613830	Night blindness, congenital stationary, type 1D	.		66
HP:0000504	HP:0000529	Progressive visual loss	3	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB	.		14
HP:0000504	HP:0000575	Scotoma	3	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB			14
HP:0000504	HP:0000529	Progressive visual loss	3	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1			14
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000504	HP:0000618	Blindness	3	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0000504	HP:0000646	Amblyopia	3	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		504
HP:0000504	HP:0000646	Amblyopia	3	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent		146
HP:0000504	HP:0000529	Progressive visual loss	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000504	HP:0000618	Blindness	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0000504	HP:0012377	Hemianopia	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000504	HP:0030532	Visual acuity test abnormality	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0000504	HP:0030588	Abnormal visual field test	3	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000504	HP:0000529	Progressive visual loss	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000504	HP:0000618	Blindness	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0000504	HP:0012377	Hemianopia	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000504	HP:0030532	Visual acuity test abnormality	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0000504	HP:0030588	Abnormal visual field test	3	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000504	HP:0000618	Blindness	3	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040282 - Frequent		174
HP:0000504	HP:0000646	Amblyopia	3	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040282 - Frequent		174
HP:0000504	HP:0000646	Amblyopia	3	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0000504	HP:0000529	Progressive visual loss	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000504	HP:0000618	Blindness	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0000504	HP:0012377	Hemianopia	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000504	HP:0030532	Visual acuity test abnormality	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0000504	HP:0030588	Abnormal visual field test	3	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000504	HP:0000618	Blindness	3	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0000504	HP:0000646	Amblyopia	3	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	HP:0040283 - Occasional		29
HP:0000504	HP:0000529	Progressive visual loss	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000504	HP:0000529	Progressive visual loss	3	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.		26
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0000504	HP:0001141	Severely reduced visual acuity	3	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		48
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	SPATA7 CL E G H	55812	20423	OMIM:604232	LEBER CONGENITAL AMAUROSIS 3; LCA3			48
HP:0000504	HP:0000618	Blindness	3	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0000504	HP:0000618	Blindness	3	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.		1
HP:0000504	HP:0000618	Blindness	3	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0000504	HP:0001141	Severely reduced visual acuity	3	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0000504	HP:0000529	Progressive visual loss	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000504	HP:0000618	Blindness	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0000504	HP:0012377	Hemianopia	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000504	HP:0030532	Visual acuity test abnormality	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0000504	HP:0030588	Abnormal visual field test	3	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000504	HP:0000646	Amblyopia	3	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0000504	HP:0000646	Amblyopia	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000504	HP:0000618	Blindness	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.		271
HP:0000504	HP:0000646	Amblyopia	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0000504	HP:0000618	Blindness	3	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.		82
HP:0000504	HP:0000529	Progressive visual loss	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000504	HP:0000618	Blindness	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0000504	HP:0012377	Hemianopia	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000504	HP:0030532	Visual acuity test abnormality	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0000504	HP:0030588	Abnormal visual field test	3	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000504	HP:0000646	Amblyopia	3	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000504	HP:0000529	Progressive visual loss	3	TGFBI CL E G H	7045	11771	OMIM:122200	Corneal dystrophy, lattice type I	.		58
HP:0000504	HP:0000529	Progressive visual loss	3	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0000504	HP:0000529	Progressive visual loss	3	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy			58
HP:0000504	HP:0000575	Scotoma	3	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome			15
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0000504	HP:0000618	Blindness	3	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		1
HP:0000504	HP:0000618	Blindness	3	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy	.		95
HP:0000504	HP:0000618	Blindness	3	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040283 - Occasional		95
HP:0000504	HP:0001129	Large central visual field defect	3	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040282 - Frequent		95
HP:0000504	HP:0001141	Severely reduced visual acuity	3	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040283 - Occasional		95
HP:0000504	HP:0000618	Blindness	3	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0000504	HP:0000575	Scotoma	3	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	.		23
HP:0000504	HP:0000618	Blindness	3	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		4
HP:0000504	HP:0000618	Blindness	3	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		39
HP:0000504	HP:0000618	Blindness	3	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		45
HP:0000504	HP:0000618	Blindness	3	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		33
HP:0000504	HP:0000618	Blindness	3	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		82
HP:0000504	HP:0000618	Blindness	3	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0000504	HP:0000529	Progressive visual loss	3	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0000504	HP:0000618	Blindness	3	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.		44
HP:0000504	HP:0000618	Blindness	3	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0000504	HP:0000529	Progressive visual loss	3	TPP1 CL E G H	1200	2073	OMIM:204500	Ceroid lipofuscinosis, neuronal, 2	.		203
HP:0000504	HP:0000529	Progressive visual loss	3	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		6
HP:0000504	HP:0000529	Progressive visual loss	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000504	HP:0000618	Blindness	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0000504	HP:0012377	Hemianopia	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000504	HP:0030532	Visual acuity test abnormality	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0000504	HP:0030588	Abnormal visual field test	3	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000504	HP:0012377	Hemianopia	3	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional		56
HP:0000504	HP:0000529	Progressive visual loss	3	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	.		56
HP:0000504	HP:0000529	Progressive visual loss	3	TRIM44 CL E G H	54765	19016	OMIM:617142	Aniridia 3	.		1
HP:0000504	HP:0000646	Amblyopia	3	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0000504	HP:0012377	Hemianopia	3	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0012377	Hemianopia	3	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0012377	Hemianopia	3	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0012377	Hemianopia	3	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0012377	Hemianopia	3	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0012377	Hemianopia	3	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0012377	Hemianopia	3	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0000575	Scotoma	3	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000504	HP:0012377	Hemianopia	3	TRNS2 CL E G H	4575	7498	ORPHA:231183	Usher syndrome type 3	HP:0040281 - Very frequent
HP:0000504	HP:0000575	Scotoma	3	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0000504	HP:0012377	Hemianopia	3	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0012377	Hemianopia	3	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0000504	HP:0030638	Congenital stationary night blindness with normal fundus	3	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		104
HP:0000504	HP:0030639	Congenital stationary night blindness with abnormal fundus	3	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040282 - Frequent		104
HP:0000504	HP:0000618	Blindness	3	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000504	HP:0001141	Severely reduced visual acuity	3	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0000504	HP:0000618	Blindness	3	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0000504	HP:0000618	Blindness	3	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0000504	HP:0012377	Hemianopia	3	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional		39
HP:0000504	HP:0030532	Visual acuity test abnormality	3	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0000504	HP:0000646	Amblyopia	3	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	.		64
HP:0000504	HP:0001141	Severely reduced visual acuity	3	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent
HP:0000504	HP:0001141	Severely reduced visual acuity	3	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		66
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.		66
HP:0000504	HP:0000618	Blindness	3	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0000504	HP:0000646	Amblyopia	3	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0000504	HP:0000618	Blindness	3	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0000504	HP:0000529	Progressive visual loss	3	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive	.		21
HP:0000504	HP:0000618	Blindness	3	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14	HP:0040284 - Very rare
HP:0000504	HP:0000618	Blindness	3	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040284 - Very rare		31
HP:0000504	HP:0000618	Blindness	3	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare		41
HP:0000504	HP:0000575	Scotoma	3	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0000504	HP:0012377	Hemianopia	3	USH1C CL E G H	10083	12597	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		173
HP:0000504	HP:0000575	Scotoma	3	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0000504	HP:0012377	Hemianopia	3	USH1G CL E G H	124590	16356	ORPHA:231169	Usher syndrome type 1	HP:0040281 - Very frequent		78
HP:0000504	HP:0000618	Blindness	3	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0000504	HP:0000575	Scotoma	3	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		777
HP:0000504	HP:0012377	Hemianopia	3	USH2A CL E G H	7399	12601	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		777
HP:0000504	HP:0001141	Severely reduced visual acuity	3	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent
HP:0000504	HP:0000529	Progressive visual loss	3	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1			32
HP:0000504	HP:0000646	Amblyopia	3	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		47
HP:0000504	HP:0032122	Very low visual acuity	3	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		47
HP:0000504	HP:0000646	Amblyopia	3	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:0000504	HP:0000646	Amblyopia	3	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.		2
HP:0000504	HP:0000646	Amblyopia	3	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0000504	HP:0000529	Progressive visual loss	3	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040282 - Frequent		95
HP:0000504	HP:0000646	Amblyopia	3	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0000504	HP:0000646	Amblyopia	3	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0000504	HP:0001141	Severely reduced visual acuity	3	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000504	HP:0030644	Blind-spot enlargment	3	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0000504	HP:0000575	Scotoma	3	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		155
HP:0000504	HP:0012377	Hemianopia	3	WHRN CL E G H	25861	16361	ORPHA:231178	Usher syndrome type 2	HP:0040281 - Very frequent		155
HP:0000504	HP:0000618	Blindness	3	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID	.		155
HP:0000504	HP:0000618	Blindness	3	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0000504	HP:0000646	Amblyopia	3	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000504	HP:0000646	Amblyopia	3	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0000504	HP:0000646	Amblyopia	3	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		8
HP:0000504	HP:0032122	Very low visual acuity	3	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		8
HP:0000504	HP:0000646	Amblyopia	3	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0000504	HP:0000646	Amblyopia	3	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000504	HP:0000529	Progressive visual loss	3	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6	.		14
HP:0000504	HP:0000618	Blindness	3	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0000504	HP:0001141	Severely reduced visual acuity	3	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0000504	HP:0000618	Blindness	3	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72	.		14
HP:0000504	HP:0000618	Blindness	3	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		49
HP:0000504	HP:0000618	Blindness	3	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0000504	HP:0001133	Constriction of peripheral visual field	3	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0000504	HP:0001141	Severely reduced visual acuity	3	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.		27
HP:0000504	HP:0010822	Scintillating scotoma	4	CL E G H
HP:0000504	HP:0011521	Deuteranopia	4	CL E G H
HP:0000504	HP:0011522	Protanopia	4	CL E G H
HP:0000504	HP:0030522	Mild constriction of peripheral visual field	4	CL E G H
HP:0000504	HP:0030525	Moderate constriction of peripheral visual field	4	CL E G H
HP:0000504	HP:0030526	Severe constriction of peripheral visual field	4	CL E G H
HP:0000504	HP:0030527	Very severe constriction of peripheral visual field	4	CL E G H
HP:0000504	HP:0030533	Abnormal unaided visual acuity test	4	CL E G H
HP:0000504	HP:0030535	Abnormal pinhole visual acuity test	4	CL E G H
HP:0000504	HP:0030552	Visual acuity light perception without projection	4	CL E G H
HP:0000504	HP:0030589	Abnormal confrontational visual field test	4	CL E G H
HP:0000504	HP:0030590	Abnormal Amsler grid test	4	CL E G H
HP:0000504	HP:0030592	Abnormal static perimetry test	4	CL E G H
HP:0000504	HP:0030640	Complete congenital stationary night blindness	4	CL E G H
HP:0000504	HP:0030641	Incomplete congenital stationary night blindness	4	CL E G H
HP:0000504	HP:0032285	Ultra-low vision with retained light projection	4	CL E G H
HP:0000504	HP:0000603	Central scotoma	4	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000504	HP:0007994	Peripheral visual field loss	4	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0000504	HP:0000603	Central scotoma	4	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		826
HP:0000504	HP:0030528	Paracentral scotoma	4	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9	.		60
HP:0000504	HP:0007994	Peripheral visual field loss	4	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75	.		2
HP:0000504	HP:0030517	Heteronymous hemianopia	4	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0000504	HP:0030517	Heteronymous hemianopia	4	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0000504	HP:0030591	Abnormal kinetic perimetry test	4	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0000504	HP:0030516	Homonymous hemianopia	4	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0000504	HP:0030553	Visual acuity no light perception	4	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare		3179
HP:0000504	HP:0007994	Peripheral visual field loss	4	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0000504	HP:0030529	Ring scotoma	4	ARSG CL E G H	22901	24102	OMIM:618144	USHER SYNDROME, TYPE IV; USH4
HP:0000504	HP:0000603	Central scotoma	4	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		10
HP:0000504	HP:0000603	Central scotoma	4	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0000504	HP:0007875	Congenital blindness	4	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent		4
HP:0000504	HP:0007875	Congenital blindness	4	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.		4
HP:0000504	HP:0032287	Ultra-low vision with no light perception	4	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0000504	HP:0000576	Centrocecal scotoma	4	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000603	Central scotoma	4	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000504	HP:0000576	Centrocecal scotoma	4	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0000504	HP:0030517	Heteronymous hemianopia	4	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0000504	HP:0030591	Abnormal kinetic perimetry test	4	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0000504	HP:0007994	Peripheral visual field loss	4	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		276
HP:0000504	HP:0030517	Heteronymous hemianopia	4	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0000504	HP:0000552	Tritanomaly	4	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040283 - Occasional		20
HP:0000504	HP:0030534	Abnormal best corrected visual acuity test	4	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040281 - Very frequent		20
HP:0000504	HP:0000603	Central scotoma	4	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3			58
HP:0000504	HP:0007994	Peripheral visual field loss	4	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0000504	HP:0030517	Heteronymous hemianopia	4	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0000504	HP:0030517	Heteronymous hemianopia	4	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000504	HP:0007875	Congenital blindness	4	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0000504	HP:0000603	Central scotoma	4	CFAP410 CL E G H	755	1260	OMIM:617547	Retinal dystrophy with or without macular staphyloma	.
HP:0000504	HP:0030528	Paracentral scotoma	4	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		86
HP:0000504	HP:0030528	Paracentral scotoma	4	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		57
HP:0000504	HP:0007994	Peripheral visual field loss	4	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0000504	HP:0000603	Central scotoma	4	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		82
HP:0000504	HP:0007994	Peripheral visual field loss	4	CNGB1 CL E G H	1258	2151	OMIM:613767	Retinitis pigmentosa 45	.		164
HP:0000504	HP:0000603	Central scotoma	4	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		194
HP:0000504	HP:0000603	Central scotoma	4	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		194
HP:0000504	HP:0000576	Centrocecal scotoma	4	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000603	Central scotoma	4	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000504	HP:0000576	Centrocecal scotoma	4	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000603	Central scotoma	4	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000504	HP:0000576	Centrocecal scotoma	4	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0000603	Central scotoma	4	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0000504	HP:0007994	Peripheral visual field loss	4	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2	.		158
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		88
HP:0000504	HP:0030517	Heteronymous hemianopia	4	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0000504	HP:0007994	Peripheral visual field loss	4	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0000504	HP:0000603	Central scotoma	4	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare		101
HP:0000504	HP:0007994	Peripheral visual field loss	4	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		101
HP:0000504	HP:0030528	Paracentral scotoma	4	CYP4V2 CL E G H	285440	23198	OMIM:210370	Bietti crystalline corneoretinal dystrophy	.		126
HP:0000504	HP:0000603	Central scotoma	4	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional		126
HP:0000504	HP:0030528	Paracentral scotoma	4	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional		126
HP:0000504	HP:0000576	Centrocecal scotoma	4	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000603	Central scotoma	4	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000504	HP:0000576	Centrocecal scotoma	4	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0007994	Peripheral visual field loss	4	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040283 - Occasional		82
HP:0000504	HP:0000576	Centrocecal scotoma	4	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000603	Central scotoma	4	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000504	HP:0000603	Central scotoma	4	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000504	HP:0000603	Central scotoma	4	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040283 - Occasional		94
HP:0000504	HP:0000552	Tritanomaly	4	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.		94
HP:0000504	HP:0000603	Central scotoma	4	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.		94
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.		94
HP:0000504	HP:0030528	Paracentral scotoma	4	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040283 - Occasional		54
HP:0000504	HP:0000603	Central scotoma	4	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare		54
HP:0000504	HP:0007994	Peripheral visual field loss	4	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		54
HP:0000504	HP:0000603	Central scotoma	4	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		62
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent		76
HP:0000504	HP:0000603	Central scotoma	4	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0000504	HP:0030529	Ring scotoma	4	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0000504	HP:0032284	Ultra-low vision with retained motion projection	4	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17			64
HP:0000504	HP:0000603	Central scotoma	4	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		19
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		24
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		124
HP:0000504	HP:0007994	Peripheral visual field loss	4	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.		124
HP:0000504	HP:0000552	Tritanomaly	4	GUCY2D CL E G H	3000	4689	OMIM:618555	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I; CSNB1I			124
HP:0000504	HP:0030528	Paracentral scotoma	4	HKDC1 CL E G H	80201	23302	OMIM:619614	RETINITIS PIGMENTOSA 92; RP92			2
HP:0000504	HP:0030530	Arcuate scotoma	4	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040283 - Occasional		4
HP:0000504	HP:0032286	Ultra-low vision with retained light perception	4	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0000504	HP:0007994	Peripheral visual field loss	4	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0000504	HP:0007994	Peripheral visual field loss	4	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0000504	HP:0007994	Peripheral visual field loss	4	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0000504	HP:0000603	Central scotoma	4	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5	.		120
HP:0000504	HP:0000603	Central scotoma	4	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities	.		3
HP:0000504	HP:0007994	Peripheral visual field loss	4	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		70
HP:0000504	HP:0000603	Central scotoma	4	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type	.
HP:0000504	HP:0007875	Congenital blindness	4	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0000504	HP:0007994	Peripheral visual field loss	4	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		62
HP:0000504	HP:0007875	Congenital blindness	4	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent		125
HP:0000504	HP:0030551	Visual acuity light perception with projection	4	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional		125
HP:0000504	HP:0030517	Heteronymous hemianopia	4	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0000504	HP:0000603	Central scotoma	4	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.		203
HP:0000504	HP:0000603	Central scotoma	4	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement	.		120
HP:0000504	HP:0000603	Central scotoma	4	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	.
HP:0000504	HP:0000603	Central scotoma	4	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare		47
HP:0000504	HP:0007994	Peripheral visual field loss	4	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040282 - Frequent		47
HP:0000504	HP:0000576	Centrocecal scotoma	4	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000603	Central scotoma	4	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000504	HP:0000576	Centrocecal scotoma	4	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0000576	Centrocecal scotoma	4	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000603	Central scotoma	4	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000504	HP:0000576	Centrocecal scotoma	4	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0000576	Centrocecal scotoma	4	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000603	Central scotoma	4	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000504	HP:0000576	Centrocecal scotoma	4	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0000576	Centrocecal scotoma	4	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000603	Central scotoma	4	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000504	HP:0000576	Centrocecal scotoma	4	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0000576	Centrocecal scotoma	4	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000603	Central scotoma	4	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000504	HP:0000576	Centrocecal scotoma	4	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0000576	Centrocecal scotoma	4	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0000603	Central scotoma	4	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0000504	HP:0000576	Centrocecal scotoma	4	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0000504	HP:0000576	Centrocecal scotoma	4	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent		65
HP:0000504	HP:0000603	Central scotoma	4	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent		65
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent		65
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0000504	HP:0030517	Heteronymous hemianopia	4	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0000504	HP:0030591	Abnormal kinetic perimetry test	4	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0000504	HP:0032286	Ultra-low vision with retained light perception	4	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0000504	HP:0000552	Tritanomaly	4	NR2E3 CL E G H	10002	7974	OMIM:611131	Retinitis pigmentosa 37	.		58
HP:0000504	HP:0007875	Congenital blindness	4	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040283 - Occasional		2
HP:0000504	HP:0000603	Central scotoma	4	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040283 - Occasional		214
HP:0000504	HP:0000552	Tritanomaly	4	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.		214
HP:0000504	HP:0000576	Centrocecal scotoma	4	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.		214
HP:0000504	HP:0000603	Central scotoma	4	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.		214
HP:0000504	HP:0000552	Tritanomaly	4	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000504	HP:0000576	Centrocecal scotoma	4	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000504	HP:0000603	Central scotoma	4	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0000504	HP:0000552	Tritanomaly	4	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional		163
HP:0000504	HP:0000603	Central scotoma	4	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040282 - Frequent		163
HP:0000504	HP:0007939	Blue cone monochromacy	4	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	.		7
HP:0000504	HP:0007939	Blue cone monochromacy	4	OPN1LW CL E G H	5956	9936	ORPHA:16	Blue cone monochromatism	HP:0040281 - Very frequent		7
HP:0000504	HP:0200018	Protanomaly	4	OPN1LW CL E G H	5956	9936	OMIM:303900	Colorblindness, partial, protan series	.		7
HP:0000504	HP:0007939	Blue cone monochromacy	4	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	.		5
HP:0000504	HP:0007939	Blue cone monochromacy	4	OPN1MW CL E G H	2652	4206	ORPHA:16	Blue cone monochromatism	HP:0040281 - Very frequent		5
HP:0000504	HP:0011520	Deuteranomaly	4	OPN1MW CL E G H	2652	4206	OMIM:303800	Colorblindness, partial, deutan series	.		5
HP:0000504	HP:0000552	Tritanomaly	4	OPN1SW CL E G H	611	1012	OMIM:190900	TRITANOPIA	.		3
HP:0000504	HP:0000552	Tritanomaly	4	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia	HP:0040282 - Frequent		3
HP:0000504	HP:0030534	Abnormal best corrected visual acuity test	4	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040281 - Very frequent		194
HP:0000504	HP:0007994	Peripheral visual field loss	4	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0000504	HP:0000603	Central scotoma	4	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		80
HP:0000504	HP:0000603	Central scotoma	4	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		14
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0000504	HP:0030517	Heteronymous hemianopia	4	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0000504	HP:0030591	Abnormal kinetic perimetry test	4	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0000504	HP:0030517	Heteronymous hemianopia	4	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0000504	HP:0030591	Abnormal kinetic perimetry test	4	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0000504	HP:0000603	Central scotoma	4	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5			135
HP:0000504	HP:0000552	Tritanomaly	4	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20			3
HP:0000504	HP:0000603	Central scotoma	4	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	.		3
HP:0000504	HP:0007994	Peripheral visual field loss	4	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0000504	HP:0000603	Central scotoma	4	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0000504	HP:0000603	Central scotoma	4	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2	.		110
HP:0000504	HP:0007994	Peripheral visual field loss	4	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0000504	HP:0000603	Central scotoma	4	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		110
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		159
HP:0000504	HP:0030642	Fundus albipunctatus	4	PRPH2 CL E G H	5961	9942	OMIM:136880	Fundus albipunctatus	.		159
HP:0000504	HP:0000603	Central scotoma	4	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		159
HP:0000504	HP:0007994	Peripheral visual field loss	4	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		159
HP:0000504	HP:0000603	Central scotoma	4	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040281 - Very frequent		159
HP:0000504	HP:0000603	Central scotoma	4	RAB28 CL E G H	9364	9768	OMIM:615374	Cone-Rod dystrophy 18	.		6
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11	.		52
HP:0000504	HP:0000603	Central scotoma	4	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66	.		108
HP:0000504	HP:0007875	Congenital blindness	4	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12	.	HP:0003577 - Congenital onset	95
HP:0000504	HP:0030642	Fundus albipunctatus	4	RDH5 CL E G H	5959	9940	OMIM:136880	Fundus albipunctatus	.		32
HP:0000504	HP:0000603	Central scotoma	4	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		32
HP:0000504	HP:0007994	Peripheral visual field loss	4	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		32
HP:0000504	HP:0030642	Fundus albipunctatus	4	RHO CL E G H	6010	10012	OMIM:136880	Fundus albipunctatus	.		107
HP:0000504	HP:0000603	Central scotoma	4	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		107
HP:0000504	HP:0007994	Peripheral visual field loss	4	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		107
HP:0000504	HP:0000603	Central scotoma	4	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional		47
HP:0000504	HP:0030528	Paracentral scotoma	4	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional		47
HP:0000504	HP:0030529	Ring scotoma	4	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040283 - Occasional		47
HP:0000504	HP:0030642	Fundus albipunctatus	4	RLBP1 CL E G H	6017	10024	OMIM:136880	Fundus albipunctatus	.		47
HP:0000504	HP:0000603	Central scotoma	4	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		47
HP:0000504	HP:0007994	Peripheral visual field loss	4	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		47
HP:0000504	HP:0007994	Peripheral visual field loss	4	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS			15
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD			284
HP:0000504	HP:0000603	Central scotoma	4	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000504	HP:0007761	Pericentral scotoma	4	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000504	HP:0030529	Ring scotoma	4	RP2 CL E G H	6102	10274	OMIM:312600	Retinitis pigmentosa 2, X-linked			45
HP:0000504	HP:0007994	Peripheral visual field loss	4	RPE65 CL E G H	6121	10294	OMIM:618697	RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87			129
HP:0000504	HP:0007994	Peripheral visual field loss	4	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		129
HP:0000504	HP:0000603	Central scotoma	4	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		200
HP:0000504	HP:0030529	Ring scotoma	4	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0000504	HP:0007994	Peripheral visual field loss	4	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0000504	HP:0000603	Central scotoma	4	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0000504	HP:0007875	Congenital blindness	4	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0000504	HP:0007994	Peripheral visual field loss	4	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0000504	HP:0007994	Peripheral visual field loss	4	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10	.		48
HP:0000504	HP:0007994	Peripheral visual field loss	4	SH3TC2 CL E G H	79628	29427	ORPHA:99949	Charcot-Marie-Tooth disease type 4C	HP:0040284 - Very rare		493
HP:0000504	HP:0007994	Peripheral visual field loss	4	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0000504	HP:0030517	Heteronymous hemianopia	4	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0000504	HP:0030591	Abnormal kinetic perimetry test	4	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0000504	HP:0030517	Heteronymous hemianopia	4	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0000504	HP:0030591	Abnormal kinetic perimetry test	4	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0000504	HP:0030517	Heteronymous hemianopia	4	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0000504	HP:0030591	Abnormal kinetic perimetry test	4	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0000504	HP:0007994	Peripheral visual field loss	4	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		48
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0000504	HP:0030517	Heteronymous hemianopia	4	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0000504	HP:0030591	Abnormal kinetic perimetry test	4	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0000504	HP:0030517	Heteronymous hemianopia	4	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0000504	HP:0030591	Abnormal kinetic perimetry test	4	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040283 - Occasional		58
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy	HP:0040281 - Very frequent		58
HP:0000504	HP:0000603	Central scotoma	4	TIMM8A CL E G H	1678	11817	ORPHA:52368	Mohr-Tranebjaerg syndrome	HP:0040283 - Occasional		15
HP:0000504	HP:0000603	Central scotoma	4	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0000504	HP:0007924	Slow decrease in visual acuity	4	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0000504	HP:0030517	Heteronymous hemianopia	4	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0000504	HP:0030591	Abnormal kinetic perimetry test	4	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0000504	HP:0030529	Ring scotoma	4	TRNT1 CL E G H	51095	17341	OMIM:616959	Retinitis pigmentosa and erythrocytic microcytosis			28
HP:0000504	HP:0030534	Abnormal best corrected visual acuity test	4	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0000504	HP:0007875	Congenital blindness	4	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040283 - Occasional		9
HP:0000504	HP:0007994	Peripheral visual field loss	4	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.		27
HP:0000504	HP:0030518	Congruous homonymous hemianopia	5	CL E G H
HP:0000504	HP:0030519	Congruous heteronymous hemianopia	5	CL E G H
HP:0000504	HP:0030520	Binasal hemianopia	5	CL E G H
HP:0000504	HP:0030536	Unaided visual acuity 0.1 LogMAR	5	CL E G H
HP:0000504	HP:0030537	Unaided visual acuity 0.2 LogMAR	5	CL E G H
HP:0000504	HP:0030538	Unaided visual acuity 0.3 LogMAR	5	CL E G H
HP:0000504	HP:0030539	Unaided visual acuity 0.4 LogMAR	5	CL E G H
HP:0000504	HP:0030540	Unaided visual acuity 0.5 LogMAR	5	CL E G H
HP:0000504	HP:0030541	Unaided visual acuity 0.6 LogMAR	5	CL E G H
HP:0000504	HP:0030542	Unaided visual acuity 0.7 LogMAR	5	CL E G H
HP:0000504	HP:0030543	Unaided visual acuity 0.8 LogMAR	5	CL E G H
HP:0000504	HP:0030544	Unaided visual acuity 0.9 LogMAR	5	CL E G H
HP:0000504	HP:0030545	Unaided visual acuity 1.0 LogMAR	5	CL E G H
HP:0000504	HP:0030546	Unaided visual acuity 1.1 LogMAR	5	CL E G H
HP:0000504	HP:0030547	Unaided visual acuity 1.2 LogMAR	5	CL E G H
HP:0000504	HP:0030548	Unaided visual acuity 1.3 LogMAR	5	CL E G H
HP:0000504	HP:0030549	Unaided visual acuity 2.0 LogMAR	5	CL E G H
HP:0000504	HP:0030550	Unaided visual acuity 3.0 LogMAR	5	CL E G H
HP:0000504	HP:0030554	Best corrected visual acuity 0.1 LogMAR	5	CL E G H
HP:0000504	HP:0030555	Best corrected visual acuity 0.2 LogMAR	5	CL E G H
HP:0000504	HP:0030556	Best corrected visual acuity 0.3 LogMAR	5	CL E G H
HP:0000504	HP:0030557	Best corrected visual acuity 0.4 LogMAR	5	CL E G H
HP:0000504	HP:0030558	Best corrected visual acuity 0.5 LogMAR	5	CL E G H
HP:0000504	HP:0030559	Best corrected visual acuity 0.7 LogMAR	5	CL E G H
HP:0000504	HP:0030560	Best corrected visual acuity 0.6 LogMAR	5	CL E G H
HP:0000504	HP:0030561	Best corrected visual acuity 0.8 LogMAR	5	CL E G H
HP:0000504	HP:0030562	Best corrected visual acuity 0.9 LogMAR	5	CL E G H
HP:0000504	HP:0030563	Best corrected visual acuity 1.0 LogMAR	5	CL E G H
HP:0000504	HP:0030564	Best corrected visual acuity 1.1 LogMAR	5	CL E G H
HP:0000504	HP:0030565	Best corrected visual acuity 1.2 LogMAR	5	CL E G H
HP:0000504	HP:0030566	Best corrected visual acuity 1.3 LogMAR	5	CL E G H
HP:0000504	HP:0030567	Best corrected visual acuity 2.0 LogMAR	5	CL E G H
HP:0000504	HP:0030568	Best corrected visual acuity 3.0 LogMAR	5	CL E G H
HP:0000504	HP:0030569	Pinhole visual acuity 0.1 LogMAR	5	CL E G H
HP:0000504	HP:0030570	Pinhole visual acuity 0.2 LogMAR	5	CL E G H
HP:0000504	HP:0030571	Pinhole visual acuity 0.3 LogMAR	5	CL E G H
HP:0000504	HP:0030572	Pinhole visual acuity 0.4 LogMAR	5	CL E G H
HP:0000504	HP:0030573	Pinhole visual acuity 0.5 LogMAR	5	CL E G H
HP:0000504	HP:0030574	Pinhole visual acuity 0.6 LogMAR	5	CL E G H
HP:0000504	HP:0030575	Pinhole visual acuity 0.7 LogMAR	5	CL E G H
HP:0000504	HP:0030576	Pinhole visual acuity 0.8 LogMAR	5	CL E G H
HP:0000504	HP:0030577	Pinhole visual acuity 0.9 LogMAR	5	CL E G H
HP:0000504	HP:0030578	Pinhole visual acuity 1.0 LogMAR	5	CL E G H
HP:0000504	HP:0030579	Pinhole visual acuity 1.1 LogMAR	5	CL E G H
HP:0000504	HP:0030580	Pinhole visual acuity 1.2 LogMAR	5	CL E G H
HP:0000504	HP:0030581	Pinhole visual acuity 1.3 LogMAR	5	CL E G H
HP:0000504	HP:0030582	Pinhole visual acuity 2.0 LogMAR	5	CL E G H
HP:0000504	HP:0030583	Pinhole visual acuity 3.0 LogMAR	5	CL E G H
HP:0000504	HP:0030593	Abnormal manual kinetic perimetry test	5	CL E G H
HP:0000504	HP:0030594	Abnormal automated kinetic perimetry test	5	CL E G H
HP:0000504	HP:0030595	Abnormal static automated perimetry test	5	CL E G H
HP:0000504	HP:0030521	Bitemporal hemianopia	5	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0000504	HP:0030521	Bitemporal hemianopia	5	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040282 - Frequent		54
HP:0000504	HP:0030521	Bitemporal hemianopia	5	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040282 - Frequent		184
HP:0000504	HP:0030521	Bitemporal hemianopia	5	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		276
HP:0000504	HP:0030521	Bitemporal hemianopia	5	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0000504	HP:0030521	Bitemporal hemianopia	5	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0000504	HP:0030521	Bitemporal hemianopia	5	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent		88
HP:0000504	HP:0030521	Bitemporal hemianopia	5	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0000504	HP:0030521	Bitemporal hemianopia	5	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040282 - Frequent		220
HP:0000504	HP:0030521	Bitemporal hemianopia	5	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040282 - Frequent		9
HP:0000504	HP:0030521	Bitemporal hemianopia	5	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040282 - Frequent		162
HP:0000504	HP:0030521	Bitemporal hemianopia	5	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040282 - Frequent		87
HP:0000504	HP:0030521	Bitemporal hemianopia	5	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040282 - Frequent		47
HP:0000504	HP:0030521	Bitemporal hemianopia	5	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040282 - Frequent		22
HP:0000504	HP:0030521	Bitemporal hemianopia	5	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040282 - Frequent		124
HP:0000504	HP:0030521	Bitemporal hemianopia	5	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040282 - Frequent		238
HP:0000504	HP:0030521	Bitemporal hemianopia	5	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040282 - Frequent
HP:0000504	HP:0030596	Abnormal Humphrey SITA 30-2 perimetry test	6	CL E G H
HP:0000504	HP:0030597	Abnormal Humphrey SITA 24-2 perimetry test	6	CL E G H
HP:0000504	HP:0030598	Abnormal Humphrey SITA 10-2 perimetry test	6	CL E G H
HP:0000504	HP:0030599	Abnormal Estermann grid perimetry test	6	CL E G H