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:0007663	HP:0007663	Reduced visual acuity	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0007663	HP:0007663	Reduced visual acuity	0	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19	.		826
HP:0007663	HP:0007663	Reduced visual acuity	0	ABCA4 CL E G H	24	34	ORPHA:827	Stargardt disease	HP:0040280 - Obligate		826
HP:0007663	HP:0007663	Reduced visual acuity	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.		415
HP:0007663	HP:0007663	Reduced visual acuity	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0007663	HP:0007663	Reduced visual acuity	0	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy			135
HP:0007663	HP:0007663	Reduced visual acuity	0	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040283 - Occasional		135
HP:0007663	HP:0007663	Reduced visual acuity	0	ACO2 CL E G H	50	118	OMIM:616289	Optic atrophy 9	.		60
HP:0007663	HP:0007663	Reduced visual acuity	0	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome			72
HP:0007663	HP:0007663	Reduced visual acuity	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0007663	HP:0007663	Reduced visual acuity	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0007663	HP:0007663	Reduced visual acuity	0	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis			84
HP:0007663	HP:0007663	Reduced visual acuity	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome			47
HP:0007663	HP:0007663	Reduced visual acuity	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:0007663	HP:0007663	Reduced visual acuity	0	AFG3L2 CL E G H	10939	315	OMIM:618977	OPTIC ATROPHY 12; OPA12			86
HP:0007663	HP:0007663	Reduced visual acuity	0	AGBL1 CL E G H	123624	26504	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0007663	HP:0007663	Reduced visual acuity	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0007663	HP:0007663	Reduced visual acuity	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0007663	HP:0007663	Reduced visual acuity	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0007663	HP:0007663	Reduced visual acuity	0	AHR CL E G H	196	348	OMIM:618345	RETINITIS PIGMENTOSA 85; RP85			2
HP:0007663	HP:0007663	Reduced visual acuity	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0007663	HP:0007663	Reduced visual acuity	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis			114
HP:0007663	HP:0007663	Reduced visual acuity	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.		114
HP:0007663	HP:0007663	Reduced visual acuity	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0007663	HP:0007663	Reduced visual acuity	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0007663	HP:0007663	Reduced visual acuity	0	ALDH3A2 CL E G H	224	403	OMIM:270200	Sjogren-Larsson syndrome			87
HP:0007663	HP:0007663	Reduced visual acuity	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id			37
HP:0007663	HP:0007663	Reduced visual acuity	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0007663	HP:0007663	Reduced visual acuity	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0007663	HP:0007663	Reduced visual acuity	0	ANKRD55 CL E G H	79722	25681	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0007663	HP:0007663	Reduced visual acuity	0	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0007663	HP:0007663	Reduced visual acuity	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0007663	HP:0007663	Reduced visual acuity	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			49
HP:0007663	HP:0007663	Reduced visual acuity	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			48
HP:0007663	HP:0007663	Reduced visual acuity	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			41
HP:0007663	HP:0007663	Reduced visual acuity	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia			18
HP:0007663	HP:0007663	Reduced visual acuity	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0007663	HP:0007663	Reduced visual acuity	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0007663	HP:0007663	Reduced visual acuity	0	ARHGEF18 CL E G H	23370	17090	OMIM:617433	Retinitis pigmentosa 78	.		6
HP:0007663	HP:0007663	Reduced visual acuity	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations			1
HP:0007663	HP:0007663	Reduced visual acuity	0	ARL2 CL E G H	402	693	OMIM:619082	MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1; MRCS1
HP:0007663	HP:0007663	Reduced visual acuity	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0007663	HP:0007663	Reduced visual acuity	0	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus	.		3
HP:0007663	HP:0007663	Reduced visual acuity	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0007663	HP:0007663	Reduced visual acuity	0	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0007663	HP:0007663	Reduced visual acuity	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0007663	HP:0007663	Reduced visual acuity	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0007663	HP:0007663	Reduced visual acuity	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0007663	HP:0007663	Reduced visual acuity	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome
HP:0007663	HP:0007663	Reduced visual acuity	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		253
HP:0007663	HP:0007663	Reduced visual acuity	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		253
HP:0007663	HP:0007663	Reduced visual acuity	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		253
HP:0007663	HP:0007663	Reduced visual acuity	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0007663	HP:0007663	Reduced visual acuity	0	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease			48
HP:0007663	HP:0007663	Reduced visual acuity	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs			4
HP:0007663	HP:0007663	Reduced visual acuity	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		10
HP:0007663	HP:0007663	Reduced visual acuity	0	ATF6 CL E G H	22926	791	OMIM:616517	ACHROMATOPSIA 7; ACHM7			10
HP:0007663	HP:0007663	Reduced visual acuity	0	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0007663	HP:0007663	Reduced visual acuity	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0007663	HP:0007663	Reduced visual acuity	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0007663	HP:0007663	Reduced visual acuity	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0007663	HP:0007663	Reduced visual acuity	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss			150
HP:0007663	HP:0007663	Reduced visual acuity	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0007663	HP:0007663	Reduced visual acuity	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0007663	HP:0007663	Reduced visual acuity	0	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome			169
HP:0007663	HP:0007663	Reduced visual acuity	0	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040282 - Frequent		8
HP:0007663	HP:0007663	Reduced visual acuity	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11			43
HP:0007663	HP:0007663	Reduced visual acuity	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:0007663	HP:0007663	Reduced visual acuity	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0007663	HP:0007663	Reduced visual acuity	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0007663	HP:0007663	Reduced visual acuity	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0007663	HP:0007663	Reduced visual acuity	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0007663	HP:0007663	Reduced visual acuity	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0007663	HP:0007663	Reduced visual acuity	0	BBS5 CL E G H	129880	970	OMIM:615983	Bardet-Biedl syndrome 5			25
HP:0007663	HP:0007663	Reduced visual acuity	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0007663	HP:0007663	Reduced visual acuity	0	BEST1 CL E G H	7439	12703	OMIM:611809	BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB			182
HP:0007663	HP:0007663	Reduced visual acuity	0	BEST1 CL E G H	7439	12703	OMIM:153700	Macular dystrophy, vitelliform, 2	.		182
HP:0007663	HP:0007663	Reduced visual acuity	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0007663	HP:0007663	Reduced visual acuity	0	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50			182
HP:0007663	HP:0007663	Reduced visual acuity	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY			182
HP:0007663	HP:0007663	Reduced visual acuity	0	BLOC1S3 CL E G H	388552	20914	OMIM:614077	Hermansky-Pudlak syndrome 8	.		42
HP:0007663	HP:0007663	Reduced visual acuity	0	BLOC1S5 CL E G H	63915	18561	OMIM:619172	HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0007663	HP:0007663	Reduced visual acuity	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0007663	HP:0007663	Reduced visual acuity	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0007663	HP:0007663	Reduced visual acuity	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0007663	HP:0007663	Reduced visual acuity	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0007663	HP:0007663	Reduced visual acuity	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0007663	HP:0007663	Reduced visual acuity	0	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration			20
HP:0007663	HP:0007663	Reduced visual acuity	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0007663	HP:0007663	Reduced visual acuity	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0007663	HP:0007663	Reduced visual acuity	0	CABP4 CL E G H	57010	1386	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		94
HP:0007663	HP:0007663	Reduced visual acuity	0	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease			58
HP:0007663	HP:0007663	Reduced visual acuity	0	CACNA1F CL E G H	778	1393	ORPHA:178333	Åland Islands eye disease	HP:0040281 - Very frequent		58
HP:0007663	HP:0007663	Reduced visual acuity	0	CACNA1F CL E G H	778	1393	OMIM:300476	Cone-Rod dystrophy, X-linked, 3	.		58
HP:0007663	HP:0007663	Reduced visual acuity	0	CACNA1F CL E G H	778	1393	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		58
HP:0007663	HP:0007663	Reduced visual acuity	0	CACNA1F CL E G H	778	1393	OMIM:300071	Night blindness, congenital stationary, type 2A	.		58
HP:0007663	HP:0007663	Reduced visual acuity	0	CACNA2D4 CL E G H	93589	20202	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		129
HP:0007663	HP:0007663	Reduced visual acuity	0	CACNA2D4 CL E G H	93589	20202	OMIM:610478	Retinal cone dystrophy 4	.		129
HP:0007663	HP:0007663	Reduced visual acuity	0	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory			6
HP:0007663	HP:0007663	Reduced visual acuity	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0007663	HP:0007663	Reduced visual acuity	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0007663	HP:0007663	Reduced visual acuity	0	CC2D2A CL E G H	57545	29253	OMIM:619845	RETINITIS PIGMENTOSA 93; RP93			247
HP:0007663	HP:0007663	Reduced visual acuity	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0007663	HP:0007663	Reduced visual acuity	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0007663	HP:0007663	Reduced visual acuity	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0007663	HP:0007663	Reduced visual acuity	0	CD247 CL E G H	919	1677	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		8
HP:0007663	HP:0007663	Reduced visual acuity	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional		6
HP:0007663	HP:0007663	Reduced visual acuity	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0007663	HP:0007663	Reduced visual acuity	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0007663	HP:0007663	Reduced visual acuity	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0007663	HP:0007663	Reduced visual acuity	0	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration			87
HP:0007663	HP:0007663	Reduced visual acuity	0	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0007663	HP:0007663	Reduced visual acuity	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0007663	HP:0007663	Reduced visual acuity	0	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15			34
HP:0007663	HP:0007663	Reduced visual acuity	0	CEP250 CL E G H	11190	1859	OMIM:618358	CONE-ROD DYSTROPHY AND HEARING LOSS 2; CRDHL2
HP:0007663	HP:0007663	Reduced visual acuity	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0007663	HP:0007663	Reduced visual acuity	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0007663	HP:0007663	Reduced visual acuity	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis			342
HP:0007663	HP:0007663	Reduced visual acuity	0	CEP290 CL E G H	80184	29021	OMIM:610189	Senior-Loken syndrome 6	.		342
HP:0007663	HP:0007663	Reduced visual acuity	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0007663	HP:0007663	Reduced visual acuity	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0007663	HP:0007663	Reduced visual acuity	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0007663	HP:0007663	Reduced visual acuity	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0007663	HP:0007663	Reduced visual acuity	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome			35
HP:0007663	HP:0007663	Reduced visual acuity	0	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2			35
HP:0007663	HP:0007663	Reduced visual acuity	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	.
HP:0007663	HP:0007663	Reduced visual acuity	0	CHRDL1 CL E G H	91851	29861	OMIM:309300	MEGALOCORNEA			9
HP:0007663	HP:0007663	Reduced visual acuity	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:0007663	HP:0007663	Reduced visual acuity	0	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy			129
HP:0007663	HP:0007663	Reduced visual acuity	0	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0007663	HP:0007663	Reduced visual acuity	0	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0007663	HP:0007663	Reduced visual acuity	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0007663	HP:0007663	Reduced visual acuity	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.		102
HP:0007663	HP:0007663	Reduced visual acuity	0	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0007663	HP:0007663	Reduced visual acuity	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0007663	HP:0007663	Reduced visual acuity	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0007663	HP:0007663	Reduced visual acuity	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0007663	HP:0007663	Reduced visual acuity	0	CLRN1 CL E G H	7401	12605	OMIM:276902	Usher syndrome, type IIIA	.		60
HP:0007663	HP:0007663	Reduced visual acuity	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0007663	HP:0007663	Reduced visual acuity	0	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0007663	HP:0007663	Reduced visual acuity	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		82
HP:0007663	HP:0007663	Reduced visual acuity	0	CNGA3 CL E G H	1261	2150	OMIM:216900	Achromatopsia 2			82
HP:0007663	HP:0007663	Reduced visual acuity	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0007663	HP:0007663	Reduced visual acuity	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		194
HP:0007663	HP:0007663	Reduced visual acuity	0	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3			194
HP:0007663	HP:0007663	Reduced visual acuity	0	CNGB3 CL E G H	54714	2153	ORPHA:827	Stargardt disease	HP:0040280 - Obligate		194
HP:0007663	HP:0007663	Reduced visual acuity	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome			215
HP:0007663	HP:0007663	Reduced visual acuity	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome			215
HP:0007663	HP:0007663	Reduced visual acuity	0	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0007663	HP:0007663	Reduced visual acuity	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0007663	HP:0007663	Reduced visual acuity	0	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:0007663	HP:0007663	Reduced visual acuity	0	COL8A2 CL E G H	1296	2216	ORPHA:98974	Fuchs endothelial corneal dystrophy			3
HP:0007663	HP:0007663	Reduced visual acuity	0	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		3
HP:0007663	HP:0007663	Reduced visual acuity	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0007663	HP:0007663	Reduced visual acuity	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome			110
HP:0007663	HP:0007663	Reduced visual acuity	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome			137
HP:0007663	HP:0007663	Reduced visual acuity	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0007663	HP:0007663	Reduced visual acuity	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis			156
HP:0007663	HP:0007663	Reduced visual acuity	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8	.		156
HP:0007663	HP:0007663	Reduced visual acuity	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0007663	HP:0007663	Reduced visual acuity	0	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0007663	HP:0007663	Reduced visual acuity	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0007663	HP:0007663	Reduced visual acuity	0	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2			158
HP:0007663	HP:0007663	Reduced visual acuity	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis			158
HP:0007663	HP:0007663	Reduced visual acuity	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0007663	HP:0007663	Reduced visual acuity	0	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types			33
HP:0007663	HP:0007663	Reduced visual acuity	0	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types	.		18
HP:0007663	HP:0007663	Reduced visual acuity	0	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types			11
HP:0007663	HP:0007663	Reduced visual acuity	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0007663	HP:0007663	Reduced visual acuity	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0007663	HP:0007663	Reduced visual acuity	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		88
HP:0007663	HP:0007663	Reduced visual acuity	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0007663	HP:0007663	Reduced visual acuity	0	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy			126
HP:0007663	HP:0007663	Reduced visual acuity	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0007663	HP:0007663	Reduced visual acuity	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0007663	HP:0007663	Reduced visual acuity	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0007663	HP:0007663	Reduced visual acuity	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:0007663	HP:0007663	Reduced visual acuity	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0007663	HP:0007663	Reduced visual acuity	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional		89
HP:0007663	HP:0007663	Reduced visual acuity	0	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0007663	HP:0007663	Reduced visual acuity	0	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form			94
HP:0007663	HP:0007663	Reduced visual acuity	0	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0007663	HP:0007663	Reduced visual acuity	0	DRAM2 CL E G H	128338	28769	OMIM:616502	Cone-Rod dystrophy 21	.		9
HP:0007663	HP:0007663	Reduced visual acuity	0	DTNBP1 CL E G H	84062	17328	OMIM:614076	Hermansky-Pudlak syndrome 7	.		46
HP:0007663	HP:0007663	Reduced visual acuity	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0007663	HP:0007663	Reduced visual acuity	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter			42
HP:0007663	HP:0007663	Reduced visual acuity	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter			24
HP:0007663	HP:0007663	Reduced visual acuity	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter			32
HP:0007663	HP:0007663	Reduced visual acuity	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter			38
HP:0007663	HP:0007663	Reduced visual acuity	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter			48
HP:0007663	HP:0007663	Reduced visual acuity	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0007663	HP:0007663	Reduced visual acuity	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features	.
HP:0007663	HP:0007663	Reduced visual acuity	0	ELOVL4 CL E G H	6785	14415	ORPHA:827	Stargardt disease	HP:0040280 - Obligate		62
HP:0007663	HP:0007663	Reduced visual acuity	0	ELOVL4 CL E G H	6785	14415	OMIM:600110	STARGARDT DISEASE 3; STGD3			62
HP:0007663	HP:0007663	Reduced visual acuity	0	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2			4
HP:0007663	HP:0007663	Reduced visual acuity	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0007663	HP:0007663	Reduced visual acuity	0	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15
HP:0007663	HP:0007663	Reduced visual acuity	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0007663	HP:0007663	Reduced visual acuity	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0007663	HP:0007663	Reduced visual acuity	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0007663	HP:0007663	Reduced visual acuity	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0007663	HP:0007663	Reduced visual acuity	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0007663	HP:0007663	Reduced visual acuity	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0007663	HP:0007663	Reduced visual acuity	0	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis			1361
HP:0007663	HP:0007663	Reduced visual acuity	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0007663	HP:0007663	Reduced visual acuity	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0007663	HP:0007663	Reduced visual acuity	0	FBN2 CL E G H	2201	3604	OMIM:616118	MACULAR DEGENERATION, EARLY-ONSET; EOMD			655
HP:0007663	HP:0007663	Reduced visual acuity	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0007663	HP:0007663	Reduced visual acuity	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0007663	HP:0007663	Reduced visual acuity	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3			175
HP:0007663	HP:0007663	Reduced visual acuity	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome			175
HP:0007663	HP:0007663	Reduced visual acuity	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0007663	HP:0007663	Reduced visual acuity	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome			145
HP:0007663	HP:0007663	Reduced visual acuity	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0007663	HP:0007663	Reduced visual acuity	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0007663	HP:0007663	Reduced visual acuity	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0007663	HP:0007663	Reduced visual acuity	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0007663	HP:0007663	Reduced visual acuity	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0007663	HP:0007663	Reduced visual acuity	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2			23
HP:0007663	HP:0007663	Reduced visual acuity	0	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus			92
HP:0007663	HP:0007663	Reduced visual acuity	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0007663	HP:0007663	Reduced visual acuity	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome			353
HP:0007663	HP:0007663	Reduced visual acuity	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0007663	HP:0007663	Reduced visual acuity	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome			263
HP:0007663	HP:0007663	Reduced visual acuity	0	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked	.		38
HP:0007663	HP:0007663	Reduced visual acuity	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0007663	HP:0007663	Reduced visual acuity	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040283 - Occasional		18
HP:0007663	HP:0007663	Reduced visual acuity	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	HP:0040283 - Occasional		18
HP:0007663	HP:0007663	Reduced visual acuity	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.		109
HP:0007663	HP:0007663	Reduced visual acuity	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		109
HP:0007663	HP:0007663	Reduced visual acuity	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0007663	HP:0007663	Reduced visual acuity	0	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity			109
HP:0007663	HP:0007663	Reduced visual acuity	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0007663	HP:0007663	Reduced visual acuity	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0007663	HP:0007663	Reduced visual acuity	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0007663	HP:0007663	Reduced visual acuity	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0007663	HP:0007663	Reduced visual acuity	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0007663	HP:0007663	Reduced visual acuity	0	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis			64
HP:0007663	HP:0007663	Reduced visual acuity	0	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17			64
HP:0007663	HP:0007663	Reduced visual acuity	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0007663	HP:0007663	Reduced visual acuity	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0007663	HP:0007663	Reduced visual acuity	0	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant			69
HP:0007663	HP:0007663	Reduced visual acuity	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0007663	HP:0007663	Reduced visual acuity	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0007663	HP:0007663	Reduced visual acuity	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0007663	HP:0007663	Reduced visual acuity	0	GNAT1 CL E G H	2779	4393	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		39
HP:0007663	HP:0007663	Reduced visual acuity	0	GNAT1 CL E G H	2779	4393	OMIM:610444	Night blindness, congenital stationary, autosomal dominant 3			39
HP:0007663	HP:0007663	Reduced visual acuity	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		19
HP:0007663	HP:0007663	Reduced visual acuity	0	GNB3 CL E G H	2784	4400	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		5
HP:0007663	HP:0007663	Reduced visual acuity	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0007663	HP:0007663	Reduced visual acuity	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0007663	HP:0007663	Reduced visual acuity	0	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked			64
HP:0007663	HP:0007663	Reduced visual acuity	0	GPR179 CL E G H	440435	31371	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		124
HP:0007663	HP:0007663	Reduced visual acuity	0	GPR179 CL E G H	440435	31371	OMIM:614565	Night blindness, congenital stationary, type 1E	.		124
HP:0007663	HP:0007663	Reduced visual acuity	0	GRHL2 CL E G H	79977	2799	OMIM:618031	Corneal dystrophy, posterior polymorphous, 4	.		33
HP:0007663	HP:0007663	Reduced visual acuity	0	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		33
HP:0007663	HP:0007663	Reduced visual acuity	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome			80
HP:0007663	HP:0007663	Reduced visual acuity	0	GRK1 CL E G H	6011	10013	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		4
HP:0007663	HP:0007663	Reduced visual acuity	0	GRM6 CL E G H	2916	4598	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		63
HP:0007663	HP:0007663	Reduced visual acuity	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		24
HP:0007663	HP:0007663	Reduced visual acuity	0	GUCA1A CL E G H	2978	4678	OMIM:602093	Cone dystrophy 3	.		24
HP:0007663	HP:0007663	Reduced visual acuity	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0007663	HP:0007663	Reduced visual acuity	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		124
HP:0007663	HP:0007663	Reduced visual acuity	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6	.		124
HP:0007663	HP:0007663	Reduced visual acuity	0	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis			124
HP:0007663	HP:0007663	Reduced visual acuity	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0007663	HP:0007663	Reduced visual acuity	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0007663	HP:0007663	Reduced visual acuity	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0007663	HP:0007663	Reduced visual acuity	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0007663	HP:0007663	Reduced visual acuity	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0007663	HP:0007663	Reduced visual acuity	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0007663	HP:0007663	Reduced visual acuity	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0007663	HP:0007663	Reduced visual acuity	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0007663	HP:0007663	Reduced visual acuity	0	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79	.		11
HP:0007663	HP:0007663	Reduced visual acuity	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0007663	HP:0007663	Reduced visual acuity	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0007663	HP:0007663	Reduced visual acuity	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0007663	HP:0007663	Reduced visual acuity	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0007663	HP:0007663	Reduced visual acuity	0	HPS3 CL E G H	84343	15597	OMIM:614072	Hermansky-Pudlak syndrome 3			67
HP:0007663	HP:0007663	Reduced visual acuity	0	HPS4 CL E G H	89781	15844	OMIM:614073	Hermansky-Pudlak syndrome 4	.		123
HP:0007663	HP:0007663	Reduced visual acuity	0	HPS5 CL E G H	11234	17022	OMIM:614074	Hermansky-Pudlak syndrome 5	.		105
HP:0007663	HP:0007663	Reduced visual acuity	0	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6	.		45
HP:0007663	HP:0007663	Reduced visual acuity	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0007663	HP:0007663	Reduced visual acuity	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0007663	HP:0007663	Reduced visual acuity	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0007663	HP:0007663	Reduced visual acuity	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0007663	HP:0007663	Reduced visual acuity	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0007663	HP:0007663	Reduced visual acuity	0	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis			148
HP:0007663	HP:0007663	Reduced visual acuity	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0007663	HP:0007663	Reduced visual acuity	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0007663	HP:0007663	Reduced visual acuity	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0007663	HP:0007663	Reduced visual acuity	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0007663	HP:0007663	Reduced visual acuity	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0007663	HP:0007663	Reduced visual acuity	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0007663	HP:0007663	Reduced visual acuity	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0007663	HP:0007663	Reduced visual acuity	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0007663	HP:0007663	Reduced visual acuity	0	IL2RA CL E G H	3559	6008	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		65
HP:0007663	HP:0007663	Reduced visual acuity	0	IL2RB CL E G H	3560	6009	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0007663	HP:0007663	Reduced visual acuity	0	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis			52
HP:0007663	HP:0007663	Reduced visual acuity	0	IMPDH1 CL E G H	3614	6052	OMIM:613837	Leber congenital amaurosis 11	.		52
HP:0007663	HP:0007663	Reduced visual acuity	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0007663	HP:0007663	Reduced visual acuity	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10	HP:0040284 - Very rare		52
HP:0007663	HP:0007663	Reduced visual acuity	0	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4	.		4
HP:0007663	HP:0007663	Reduced visual acuity	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0007663	HP:0007663	Reduced visual acuity	0	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5	.		120
HP:0007663	HP:0007663	Reduced visual acuity	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0007663	HP:0007663	Reduced visual acuity	0	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56			120
HP:0007663	HP:0007663	Reduced visual acuity	0	INPP5E CL E G H	56623	21474	OMIM:610156	Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome	.		111
HP:0007663	HP:0007663	Reduced visual acuity	0	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis			61
HP:0007663	HP:0007663	Reduced visual acuity	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0007663	HP:0007663	Reduced visual acuity	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0007663	HP:0007663	Reduced visual acuity	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0007663	HP:0007663	Reduced visual acuity	0	ITM2B CL E G H	9445	6174	OMIM:616079	Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities			3
HP:0007663	HP:0007663	Reduced visual acuity	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0007663	HP:0007663	Reduced visual acuity	0	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis			42
HP:0007663	HP:0007663	Reduced visual acuity	0	KCNJ13 CL E G H	3769	6259	OMIM:614186	Leber congenital amaurosis 16	.		42
HP:0007663	HP:0007663	Reduced visual acuity	0	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0007663	HP:0007663	Reduced visual acuity	0	KCNV2 CL E G H	169522	19698	OMIM:610356	Retinal cone dystrophy 3B			73
HP:0007663	HP:0007663	Reduced visual acuity	0	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2			8
HP:0007663	HP:0007663	Reduced visual acuity	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0007663	HP:0007663	Reduced visual acuity	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0007663	HP:0007663	Reduced visual acuity	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.		46
HP:0007663	HP:0007663	Reduced visual acuity	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0007663	HP:0007663	Reduced visual acuity	0	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive			9
HP:0007663	HP:0007663	Reduced visual acuity	0	KIF1C CL E G H	10749	6317	ORPHA:397946	Autosomal spastic paraplegia type 58	HP:0040284 - Very rare		38
HP:0007663	HP:0007663	Reduced visual acuity	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0007663	HP:0007663	Reduced visual acuity	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0007663	HP:0007663	Reduced visual acuity	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0007663	HP:0007663	Reduced visual acuity	0	KRT12 CL E G H	3859	6414	OMIM:122100	Meesmann corneal dystrophy 1	.		22
HP:0007663	HP:0007663	Reduced visual acuity	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome			35
HP:0007663	HP:0007663	Reduced visual acuity	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome			35
HP:0007663	HP:0007663	Reduced visual acuity	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0007663	HP:0007663	Reduced visual acuity	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0007663	HP:0007663	Reduced visual acuity	0	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis			70
HP:0007663	HP:0007663	Reduced visual acuity	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		70
HP:0007663	HP:0007663	Reduced visual acuity	0	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types			16
HP:0007663	HP:0007663	Reduced visual acuity	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0007663	HP:0007663	Reduced visual acuity	0	LOC111365204 CL E G H	111365204		OMIM:136550	Macular dystrophy, retinal, 1, north Carolina type	.
HP:0007663	HP:0007663	Reduced visual acuity	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0007663	HP:0007663	Reduced visual acuity	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome			4
HP:0007663	HP:0007663	Reduced visual acuity	0	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis			62
HP:0007663	HP:0007663	Reduced visual acuity	0	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0007663	HP:0007663	Reduced visual acuity	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0007663	HP:0007663	Reduced visual acuity	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		62
HP:0007663	HP:0007663	Reduced visual acuity	0	LRIT3 CL E G H	345193	24783	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		54
HP:0007663	HP:0007663	Reduced visual acuity	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.		125
HP:0007663	HP:0007663	Reduced visual acuity	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.		125
HP:0007663	HP:0007663	Reduced visual acuity	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		125
HP:0007663	HP:0007663	Reduced visual acuity	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0007663	HP:0007663	Reduced visual acuity	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0007663	HP:0007663	Reduced visual acuity	0	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity			125
HP:0007663	HP:0007663	Reduced visual acuity	0	LRPAP1 CL E G H	4043	6701	OMIM:615431	Myopia 23, autosomal recessive	.		4
HP:0007663	HP:0007663	Reduced visual acuity	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent		239
HP:0007663	HP:0007663	Reduced visual acuity	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0007663	HP:0007663	Reduced visual acuity	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome			63
HP:0007663	HP:0007663	Reduced visual acuity	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	.		4
HP:0007663	HP:0007663	Reduced visual acuity	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0007663	HP:0007663	Reduced visual acuity	0	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62			53
HP:0007663	HP:0007663	Reduced visual acuity	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0007663	HP:0007663	Reduced visual acuity	0	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3	.		1
HP:0007663	HP:0007663	Reduced visual acuity	0	MARK3 CL E G H	4140	6897	OMIM:618283	Visual impairment and progressive phthisis bulbi	.
HP:0007663	HP:0007663	Reduced visual acuity	0	MC1R CL E G H	4157	6929	OMIM:203200	Albinism, oculocutaneous, type II	.		124
HP:0007663	HP:0007663	Reduced visual acuity	0	MC1R CL E G H	4157	6929	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		124
HP:0007663	HP:0007663	Reduced visual acuity	0	MECR CL E G H	51102	19691	OMIM:617282	Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities			6
HP:0007663	HP:0007663	Reduced visual acuity	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome			6
HP:0007663	HP:0007663	Reduced visual acuity	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0007663	HP:0007663	Reduced visual acuity	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0007663	HP:0007663	Reduced visual acuity	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0007663	HP:0007663	Reduced visual acuity	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0007663	HP:0007663	Reduced visual acuity	0	MFRP CL E G H	83552	18121	OMIM:611040	Microphthalmia, isolated 5	.		26
HP:0007663	HP:0007663	Reduced visual acuity	0	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7			120
HP:0007663	HP:0007663	Reduced visual acuity	0	MFSD8 CL E G H	256471	28486	OMIM:616170	Macular dystrophy with central cone involvement	.		120
HP:0007663	HP:0007663	Reduced visual acuity	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0007663	HP:0007663	Reduced visual acuity	0	MIR184 CL E G H	406960	31555	OMIM:614303	Edict syndrome	.		1
HP:0007663	HP:0007663	Reduced visual acuity	0	MIR204 CL E G H	406987	31582	OMIM:616722	Retinal dystrophy and iris coloboma with or without congenital cataract	.		1
HP:0007663	HP:0007663	Reduced visual acuity	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0007663	HP:0007663	Reduced visual acuity	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0007663	HP:0007663	Reduced visual acuity	0	MMP19 CL E G H	4327	7165	OMIM:611543	Cavitary optic disc anomalies	.		2
HP:0007663	HP:0007663	Reduced visual acuity	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional		29
HP:0007663	HP:0007663	Reduced visual acuity	0	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type			217
HP:0007663	HP:0007663	Reduced visual acuity	0	MTRFR CL E G H	91574	26784	ORPHA:320375	Autosomal recessive spastic paraplegia type 55	HP:0040282 - Frequent
HP:0007663	HP:0007663	Reduced visual acuity	0	MTRFR CL E G H	91574	26784	OMIM:615035	Spastic paraplegia 55, autosomal recessive	HP:0040283 - Occasional
HP:0007663	HP:0007663	Reduced visual acuity	0	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type			88
HP:0007663	HP:0007663	Reduced visual acuity	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0007663	HP:0007663	Reduced visual acuity	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0007663	HP:0007663	Reduced visual acuity	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.		25
HP:0007663	HP:0007663	Reduced visual acuity	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0007663	HP:0007663	Reduced visual acuity	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0007663	HP:0007663	Reduced visual acuity	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0007663	HP:0007663	Reduced visual acuity	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0007663	HP:0007663	Reduced visual acuity	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked	.		39
HP:0007663	HP:0007663	Reduced visual acuity	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		39
HP:0007663	HP:0007663	Reduced visual acuity	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0007663	HP:0007663	Reduced visual acuity	0	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease			39
HP:0007663	HP:0007663	Reduced visual acuity	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0007663	HP:0007663	Reduced visual acuity	0	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity			39
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0007663	HP:0007663	Reduced visual acuity	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0007663	HP:0007663	Reduced visual acuity	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0007663	HP:0007663	Reduced visual acuity	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0007663	HP:0007663	Reduced visual acuity	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0007663	HP:0007663	Reduced visual acuity	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040282 - Frequent		220
HP:0007663	HP:0007663	Reduced visual acuity	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0007663	HP:0007663	Reduced visual acuity	0	NHS CL E G H	4810	7820	OMIM:302200	Cataract, congenital total, with posterior sutural opacities in heterozygotes			88
HP:0007663	HP:0007663	Reduced visual acuity	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0007663	HP:0007663	Reduced visual acuity	0	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis			15
HP:0007663	HP:0007663	Reduced visual acuity	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0007663	HP:0007663	Reduced visual acuity	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0007663	HP:0007663	Reduced visual acuity	0	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4			220
HP:0007663	HP:0007663	Reduced visual acuity	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0007663	HP:0007663	Reduced visual acuity	0	NR2F1 CL E G H	7025	7975	OMIM:615722	Bosch-Boonstra-Schaaf optic atrophy syndrome	.		37
HP:0007663	HP:0007663	Reduced visual acuity	0	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040282 - Frequent		37
HP:0007663	HP:0007663	Reduced visual acuity	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0007663	HP:0007663	Reduced visual acuity	0	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27			30
HP:0007663	HP:0007663	Reduced visual acuity	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0007663	HP:0007663	Reduced visual acuity	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0007663	HP:0007663	Reduced visual acuity	0	NYX CL E G H	60506	8082	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		42
HP:0007663	HP:0007663	Reduced visual acuity	0	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina			94
HP:0007663	HP:0007663	Reduced visual acuity	0	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency			94
HP:0007663	HP:0007663	Reduced visual acuity	0	OCA2 CL E G H	4948	8101	OMIM:203200	Albinism, oculocutaneous, type II	.		121
HP:0007663	HP:0007663	Reduced visual acuity	0	OCA2 CL E G H	4948	8101	ORPHA:79432	Oculocutaneous albinism type 2	HP:0040282 - Frequent		121
HP:0007663	HP:0007663	Reduced visual acuity	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0007663	HP:0007663	Reduced visual acuity	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0007663	HP:0007663	Reduced visual acuity	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0007663	HP:0007663	Reduced visual acuity	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0007663	HP:0007663	Reduced visual acuity	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0007663	HP:0007663	Reduced visual acuity	0	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form			214
HP:0007663	HP:0007663	Reduced visual acuity	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0007663	HP:0007663	Reduced visual acuity	0	OPA1 CL E G H	4976	8140	OMIM:165500	Optic atrophy 1	.		214
HP:0007663	HP:0007663	Reduced visual acuity	0	OPA1 CL E G H	4976	8140	OMIM:125250	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy	.		214
HP:0007663	HP:0007663	Reduced visual acuity	0	OPA3 CL E G H	80207	8142	OMIM:258501	3-methylglutaconic aciduria, type III	.		163
HP:0007663	HP:0007663	Reduced visual acuity	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040281 - Very frequent		163
HP:0007663	HP:0007663	Reduced visual acuity	0	OPA3 CL E G H	80207	8142	OMIM:165300	OPTIC ATROPHY 3, AUTOSOMAL DOMINANT; OPA3			163
HP:0007663	HP:0007663	Reduced visual acuity	0	OPN1LW CL E G H	5956	9936	OMIM:303700	Blue cone monochromacy	.		7
HP:0007663	HP:0007663	Reduced visual acuity	0	OPN1MW CL E G H	2652	4206	OMIM:303700	Blue cone monochromacy	.		5
HP:0007663	HP:0007663	Reduced visual acuity	0	OPN1SW CL E G H	611	1012	ORPHA:88629	Tritanopia	HP:0040283 - Occasional		3
HP:0007663	HP:0007663	Reduced visual acuity	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0007663	HP:0007663	Reduced visual acuity	0	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		4
HP:0007663	HP:0007663	Reduced visual acuity	0	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration			5
HP:0007663	HP:0007663	Reduced visual acuity	0	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0007663	HP:0007663	Reduced visual acuity	0	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration			55
HP:0007663	HP:0007663	Reduced visual acuity	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration			55
HP:0007663	HP:0007663	Reduced visual acuity	0	PANK4 CL E G H	55229	19366	OMIM:619593	CATARACT 49; CTRCT49
HP:0007663	HP:0007663	Reduced visual acuity	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome			39
HP:0007663	HP:0007663	Reduced visual acuity	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.		194
HP:0007663	HP:0007663	Reduced visual acuity	0	PAX6 CL E G H	5080	8620	ORPHA:2334	Autosomal dominant keratitis	HP:0040282 - Frequent		194
HP:0007663	HP:0007663	Reduced visual acuity	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT			194
HP:0007663	HP:0007663	Reduced visual acuity	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040281 - Very frequent		194
HP:0007663	HP:0007663	Reduced visual acuity	0	PAX6 CL E G H	5080	8620	ORPHA:35737	Morning glory disc anomaly			194
HP:0007663	HP:0007663	Reduced visual acuity	0	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL			194
HP:0007663	HP:0007663	Reduced visual acuity	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0007663	HP:0007663	Reduced visual acuity	0	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis			11
HP:0007663	HP:0007663	Reduced visual acuity	0	PCYT2 CL E G H	5833	8756	OMIM:618770	SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0007663	HP:0007663	Reduced visual acuity	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0007663	HP:0007663	Reduced visual acuity	0	PDE6B CL E G H	5158	8786	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		126
HP:0007663	HP:0007663	Reduced visual acuity	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0007663	HP:0007663	Reduced visual acuity	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		80
HP:0007663	HP:0007663	Reduced visual acuity	0	PDE6C CL E G H	5146	8787	OMIM:613093	Cone dystrophy 4	.		80
HP:0007663	HP:0007663	Reduced visual acuity	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0007663	HP:0007663	Reduced visual acuity	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0007663	HP:0007663	Reduced visual acuity	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		14
HP:0007663	HP:0007663	Reduced visual acuity	0	PDE6H CL E G H	5149	8790	OMIM:610024	Retinal cone dystrophy 3A	.		14
HP:0007663	HP:0007663	Reduced visual acuity	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0007663	HP:0007663	Reduced visual acuity	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0007663	HP:0007663	Reduced visual acuity	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0007663	HP:0007663	Reduced visual acuity	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0007663	HP:0007663	Reduced visual acuity	0	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency			21
HP:0007663	HP:0007663	Reduced visual acuity	0	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2			6
HP:0007663	HP:0007663	Reduced visual acuity	0	PI4KA CL E G H	5297	8983	OMIM:619708	GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2			11
HP:0007663	HP:0007663	Reduced visual acuity	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0007663	HP:0007663	Reduced visual acuity	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0007663	HP:0007663	Reduced visual acuity	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0007663	HP:0007663	Reduced visual acuity	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0007663	HP:0007663	Reduced visual acuity	0	PITPNM3 CL E G H	83394	21043	OMIM:600977	Cone-Rod dystrophy 5	.		135
HP:0007663	HP:0007663	Reduced visual acuity	0	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea			51
HP:0007663	HP:0007663	Reduced visual acuity	0	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types			6
HP:0007663	HP:0007663	Reduced visual acuity	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy			133
HP:0007663	HP:0007663	Reduced visual acuity	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included			11
HP:0007663	HP:0007663	Reduced visual acuity	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0007663	HP:0007663	Reduced visual acuity	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.		60
HP:0007663	HP:0007663	Reduced visual acuity	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent		60
HP:0007663	HP:0007663	Reduced visual acuity	0	POC1B CL E G H	282809	30836	OMIM:615973	Cone-Rod dystrophy 20	.		3
HP:0007663	HP:0007663	Reduced visual acuity	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome			35
HP:0007663	HP:0007663	Reduced visual acuity	0	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome			464
HP:0007663	HP:0007663	Reduced visual acuity	0	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0007663	HP:0007663	Reduced visual acuity	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0007663	HP:0007663	Reduced visual acuity	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0007663	HP:0007663	Reduced visual acuity	0	POMGNT1 CL E G H	55624	19139	OMIM:617123	RETINITIS PIGMENTOSA 76; RP76			180
HP:0007663	HP:0007663	Reduced visual acuity	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0007663	HP:0007663	Reduced visual acuity	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.		18
HP:0007663	HP:0007663	Reduced visual acuity	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0007663	HP:0007663	Reduced visual acuity	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0007663	HP:0007663	Reduced visual acuity	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0007663	HP:0007663	Reduced visual acuity	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0007663	HP:0007663	Reduced visual acuity	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0007663	HP:0007663	Reduced visual acuity	0	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0007663	HP:0007663	Reduced visual acuity	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1			172
HP:0007663	HP:0007663	Reduced visual acuity	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0007663	HP:0007663	Reduced visual acuity	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0007663	HP:0007663	Reduced visual acuity	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0007663	HP:0007663	Reduced visual acuity	0	PRIMPOL CL E G H	201973	26575	OMIM:615420	Myopia 22, autosomal dominant	.		1
HP:0007663	HP:0007663	Reduced visual acuity	0	PROM1 CL E G H	8842	9454	OMIM:612657	CONE-ROD DYSTROPHY 12; CORD12			110
HP:0007663	HP:0007663	Reduced visual acuity	0	PROM1 CL E G H	8842	9454	OMIM:608051	Macular dystrophy, retinal, 2	.		110
HP:0007663	HP:0007663	Reduced visual acuity	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0007663	HP:0007663	Reduced visual acuity	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0007663	HP:0007663	Reduced visual acuity	0	PROM1 CL E G H	8842	9454	ORPHA:827	Stargardt disease	HP:0040280 - Obligate		110
HP:0007663	HP:0007663	Reduced visual acuity	0	PROM1 CL E G H	8842	9454	OMIM:603786	Stargardt disease 4	.		110
HP:0007663	HP:0007663	Reduced visual acuity	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive			75
HP:0007663	HP:0007663	Reduced visual acuity	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0007663	HP:0007663	Reduced visual acuity	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0007663	HP:0007663	Reduced visual acuity	0	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11			70
HP:0007663	HP:0007663	Reduced visual acuity	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0007663	HP:0007663	Reduced visual acuity	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0007663	HP:0007663	Reduced visual acuity	0	PRPF6 CL E G H	24148	15860	OMIM:613983	Retinitis pigmentosa 60	.		51
HP:0007663	HP:0007663	Reduced visual acuity	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0007663	HP:0007663	Reduced visual acuity	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent		159
HP:0007663	HP:0007663	Reduced visual acuity	0	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	.		159
HP:0007663	HP:0007663	Reduced visual acuity	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0007663	HP:0007663	Reduced visual acuity	0	PRPH2 CL E G H	5961	9942	ORPHA:827	Stargardt disease	HP:0040280 - Obligate		159
HP:0007663	HP:0007663	Reduced visual acuity	0	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy			49
HP:0007663	HP:0007663	Reduced visual acuity	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0007663	HP:0007663	Reduced visual acuity	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0007663	HP:0007663	Reduced visual acuity	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		81
HP:0007663	HP:0007663	Reduced visual acuity	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		81
HP:0007663	HP:0007663	Reduced visual acuity	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		81
HP:0007663	HP:0007663	Reduced visual acuity	0	PTPN2 CL E G H	5771	9650	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional
HP:0007663	HP:0007663	Reduced visual acuity	0	PTPN22 CL E G H	26191	9652	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		3
HP:0007663	HP:0007663	Reduced visual acuity	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent		19
HP:0007663	HP:0007663	Reduced visual acuity	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0007663	HP:0007663	Reduced visual acuity	0	PXDN CL E G H	7837	14966	OMIM:269400	Corneal opacification with other ocular anomalies			22
HP:0007663	HP:0007663	Reduced visual acuity	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0007663	HP:0007663	Reduced visual acuity	0	RAX2 CL E G H	84839	18286	OMIM:620102				52
HP:0007663	HP:0007663	Reduced visual acuity	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0007663	HP:0007663	Reduced visual acuity	0	RBP3 CL E G H	5949	9921	OMIM:615233	Retinitis pigmentosa 66	.		108
HP:0007663	HP:0007663	Reduced visual acuity	0	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	.		8
HP:0007663	HP:0007663	Reduced visual acuity	0	RCBTB1 CL E G H	55213	18243	OMIM:617175	RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES; RDEOA			8
HP:0007663	HP:0007663	Reduced visual acuity	0	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis			95
HP:0007663	HP:0007663	Reduced visual acuity	0	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12			95
HP:0007663	HP:0007663	Reduced visual acuity	0	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis			45
HP:0007663	HP:0007663	Reduced visual acuity	0	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13			45
HP:0007663	HP:0007663	Reduced visual acuity	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0007663	HP:0007663	Reduced visual acuity	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0007663	HP:0007663	Reduced visual acuity	0	REEP6 CL E G H	92840	30078	OMIM:617304	Retinitis pigmentosa 77	.		5
HP:0007663	HP:0007663	Reduced visual acuity	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0007663	HP:0007663	Reduced visual acuity	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0007663	HP:0007663	Reduced visual acuity	0	RHO CL E G H	6010	10012	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		107
HP:0007663	HP:0007663	Reduced visual acuity	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0007663	HP:0007663	Reduced visual acuity	0	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4			107
HP:0007663	HP:0007663	Reduced visual acuity	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB			8
HP:0007663	HP:0007663	Reduced visual acuity	0	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0007663	HP:0007663	Reduced visual acuity	0	RIMS2 CL E G H	9699	17283	OMIM:618970	CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS			2
HP:0007663	HP:0007663	Reduced visual acuity	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0007663	HP:0007663	Reduced visual acuity	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0007663	HP:0007663	Reduced visual acuity	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0007663	HP:0007663	Reduced visual acuity	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0007663	HP:0007663	Reduced visual acuity	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0007663	HP:0007663	Reduced visual acuity	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0007663	HP:0007663	Reduced visual acuity	0	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0007663	HP:0007663	Reduced visual acuity	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0007663	HP:0007663	Reduced visual acuity	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0007663	HP:0007663	Reduced visual acuity	0	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis			129
HP:0007663	HP:0007663	Reduced visual acuity	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II	.		129
HP:0007663	HP:0007663	Reduced visual acuity	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0007663	HP:0007663	Reduced visual acuity	0	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20			129
HP:0007663	HP:0007663	Reduced visual acuity	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		129
HP:0007663	HP:0007663	Reduced visual acuity	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040282 - Frequent		200
HP:0007663	HP:0007663	Reduced visual acuity	0	RPGR CL E G H	6103	10295	OMIM:304020	Cone-rod dystrophy, X-linked, 1			200
HP:0007663	HP:0007663	Reduced visual acuity	0	RPGR CL E G H	6103	10295	OMIM:300834	MACULAR DEGENERATION, X-LINKED ATROPHIC			200
HP:0007663	HP:0007663	Reduced visual acuity	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0007663	HP:0007663	Reduced visual acuity	0	RPGR CL E G H	6103	10295	OMIM:300029	Retinitis pigmentosa 3			200
HP:0007663	HP:0007663	Reduced visual acuity	0	RPGRIP1 CL E G H	57096	13436	OMIM:608194	CONE-ROD DYSTROPHY 13; CORD13			109
HP:0007663	HP:0007663	Reduced visual acuity	0	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis			109
HP:0007663	HP:0007663	Reduced visual acuity	0	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0007663	HP:0007663	Reduced visual acuity	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0007663	HP:0007663	Reduced visual acuity	0	RTN4IP1 CL E G H	84816	18647	OMIM:616732	OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES; OPA10			2
HP:0007663	HP:0007663	Reduced visual acuity	0	SAG CL E G H	6295	10521	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		32
HP:0007663	HP:0007663	Reduced visual acuity	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0007663	HP:0007663	Reduced visual acuity	0	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE			1
HP:0007663	HP:0007663	Reduced visual acuity	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome			86
HP:0007663	HP:0007663	Reduced visual acuity	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0007663	HP:0007663	Reduced visual acuity	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa	.
HP:0007663	HP:0007663	Reduced visual acuity	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0007663	HP:0007663	Reduced visual acuity	0	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3			1053
HP:0007663	HP:0007663	Reduced visual acuity	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0007663	HP:0007663	Reduced visual acuity	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0007663	HP:0007663	Reduced visual acuity	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0007663	HP:0007663	Reduced visual acuity	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0007663	HP:0007663	Reduced visual acuity	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0007663	HP:0007663	Reduced visual acuity	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent
HP:0007663	HP:0007663	Reduced visual acuity	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0007663	HP:0007663	Reduced visual acuity	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0007663	HP:0007663	Reduced visual acuity	0	SEMA4A CL E G H	64218	10729	OMIM:610282	Retinitis pigmentosa 35			48
HP:0007663	HP:0007663	Reduced visual acuity	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		66
HP:0007663	HP:0007663	Reduced visual acuity	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0007663	HP:0007663	Reduced visual acuity	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism			177
HP:0007663	HP:0007663	Reduced visual acuity	0	SLC1A3 CL E G H	6507	10941	ORPHA:209967	Episodic ataxia type 6	HP:0040283 - Occasional		63
HP:0007663	HP:0007663	Reduced visual acuity	0	SLC24A1 CL E G H	9187	10975	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		66
HP:0007663	HP:0007663	Reduced visual acuity	0	SLC24A1 CL E G H	9187	10975	OMIM:613830	Night blindness, congenital stationary, type 1D			66
HP:0007663	HP:0007663	Reduced visual acuity	0	SLC24A5 CL E G H	283652	20611	OMIM:113750	Albinism, oculocutaneous, type VI	.		12
HP:0007663	HP:0007663	Reduced visual acuity	0	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6	HP:0040281 - Very frequent		12
HP:0007663	HP:0007663	Reduced visual acuity	0	SLC38A8 CL E G H	146167	32434	OMIM:609218	Foveal hypoplasia 2	.		13
HP:0007663	HP:0007663	Reduced visual acuity	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.		5
HP:0007663	HP:0007663	Reduced visual acuity	0	SLC45A2 CL E G H	51151	16472	ORPHA:79435	Oculocutaneous albinism type 4	HP:0040281 - Very frequent		42
HP:0007663	HP:0007663	Reduced visual acuity	0	SLC4A11 CL E G H	83959	16438	ORPHA:293603	Congenital hereditary endothelial dystrophy type II	HP:0040282 - Frequent		66
HP:0007663	HP:0007663	Reduced visual acuity	0	SLC4A11 CL E G H	83959	16438	OMIM:217400	Corneal endothelial dystrophy and perceptive deafness			66
HP:0007663	HP:0007663	Reduced visual acuity	0	SLC4A11 CL E G H	83959	16438	ORPHA:98974	Fuchs endothelial corneal dystrophy			66
HP:0007663	HP:0007663	Reduced visual acuity	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0007663	HP:0007663	Reduced visual acuity	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0007663	HP:0007663	Reduced visual acuity	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0007663	HP:0007663	Reduced visual acuity	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0007663	HP:0007663	Reduced visual acuity	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0007663	HP:0007663	Reduced visual acuity	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome			174
HP:0007663	HP:0007663	Reduced visual acuity	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0007663	HP:0007663	Reduced visual acuity	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0007663	HP:0007663	Reduced visual acuity	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0007663	HP:0007663	Reduced visual acuity	0	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus			29
HP:0007663	HP:0007663	Reduced visual acuity	0	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis			48
HP:0007663	HP:0007663	Reduced visual acuity	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0007663	HP:0007663	Reduced visual acuity	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		48
HP:0007663	HP:0007663	Reduced visual acuity	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0007663	HP:0007663	Reduced visual acuity	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0007663	HP:0007663	Reduced visual acuity	0	STAT4 CL E G H	6775	11365	ORPHA:85410	Oligoarticular juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0007663	HP:0007663	Reduced visual acuity	0	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0007663	HP:0007663	Reduced visual acuity	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0007663	HP:0007663	Reduced visual acuity	0	TACSTD2 CL E G H	4070	11530	OMIM:204870	Corneal dystrophy, gelatinous drop-like	.		42
HP:0007663	HP:0007663	Reduced visual acuity	0	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome			12
HP:0007663	HP:0007663	Reduced visual acuity	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0007663	HP:0007663	Reduced visual acuity	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0007663	HP:0007663	Reduced visual acuity	0	TBC1D2B CL E G H	23102	29183	ORPHA:397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	HP:0040283 - Occasional
HP:0007663	HP:0007663	Reduced visual acuity	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0007663	HP:0007663	Reduced visual acuity	0	TCF4 CL E G H	6925	11634	ORPHA:98974	Fuchs endothelial corneal dystrophy			241
HP:0007663	HP:0007663	Reduced visual acuity	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0007663	HP:0007663	Reduced visual acuity	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.		12
HP:0007663	HP:0007663	Reduced visual acuity	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0007663	HP:0007663	Reduced visual acuity	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0007663	HP:0007663	Reduced visual acuity	0	TGFBI CL E G H	7045	11771	OMIM:607541	Corneal dystrophy, Avellino type	.		58
HP:0007663	HP:0007663	Reduced visual acuity	0	TGFBI CL E G H	7045	11771	OMIM:121820	Corneal dystrophy, epithelial basement membrane			58
HP:0007663	HP:0007663	Reduced visual acuity	0	TGFBI CL E G H	7045	11771	OMIM:608471	Corneal dystrophy, lattice type IIIA	.		58
HP:0007663	HP:0007663	Reduced visual acuity	0	TGFBI CL E G H	7045	11771	OMIM:608470	Corneal dystrophy, Reis-Bucklers type			58
HP:0007663	HP:0007663	Reduced visual acuity	0	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I			58
HP:0007663	HP:0007663	Reduced visual acuity	0	TGFBI CL E G H	7045	11771	ORPHA:98963	Granular corneal dystrophy type II			58
HP:0007663	HP:0007663	Reduced visual acuity	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.		15
HP:0007663	HP:0007663	Reduced visual acuity	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0007663	HP:0007663	Reduced visual acuity	0	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy			95
HP:0007663	HP:0007663	Reduced visual acuity	0	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy			95
HP:0007663	HP:0007663	Reduced visual acuity	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0007663	HP:0007663	Reduced visual acuity	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0007663	HP:0007663	Reduced visual acuity	0	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	.		23
HP:0007663	HP:0007663	Reduced visual acuity	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0007663	HP:0007663	Reduced visual acuity	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0007663	HP:0007663	Reduced visual acuity	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0007663	HP:0007663	Reduced visual acuity	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0007663	HP:0007663	Reduced visual acuity	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0007663	HP:0007663	Reduced visual acuity	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0007663	HP:0007663	Reduced visual acuity	0	TMEM98 CL E G H	26022	24529	OMIM:615972	Nanophthalmos 4	HP:0040283 - Occasional		3
HP:0007663	HP:0007663	Reduced visual acuity	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0007663	HP:0007663	Reduced visual acuity	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0007663	HP:0007663	Reduced visual acuity	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0007663	HP:0007663	Reduced visual acuity	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0007663	HP:0007663	Reduced visual acuity	0	TRPM1 CL E G H	4308	7146	ORPHA:215	Congenital stationary night blindness	HP:0040281 - Very frequent		104
HP:0007663	HP:0007663	Reduced visual acuity	0	TRPM1 CL E G H	4308	7146	OMIM:613216	NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C			104
HP:0007663	HP:0007663	Reduced visual acuity	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		3
HP:0007663	HP:0007663	Reduced visual acuity	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		84
HP:0007663	HP:0007663	Reduced visual acuity	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		57
HP:0007663	HP:0007663	Reduced visual acuity	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent		102
HP:0007663	HP:0007663	Reduced visual acuity	0	TSPAN12 CL E G H	23554	21641	OMIM:613310	Exudative vitreoretinopathy 5	HP:0040283 - Occasional		39
HP:0007663	HP:0007663	Reduced visual acuity	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		39
HP:0007663	HP:0007663	Reduced visual acuity	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0007663	HP:0007663	Reduced visual acuity	0	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.		41
HP:0007663	HP:0007663	Reduced visual acuity	0	TTLL5 CL E G H	23093	19963	OMIM:615860	Cone-Rod dystrophy 19			9
HP:0007663	HP:0007663	Reduced visual acuity	0	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity	.		1
HP:0007663	HP:0007663	Reduced visual acuity	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0007663	HP:0007663	Reduced visual acuity	0	TUBA3D CL E G H	113457	24071	OMIM:617928	Keratoconus 9	.
HP:0007663	HP:0007663	Reduced visual acuity	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0007663	HP:0007663	Reduced visual acuity	0	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement			64
HP:0007663	HP:0007663	Reduced visual acuity	0	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis
HP:0007663	HP:0007663	Reduced visual acuity	0	TUBB4B CL E G H	10383	20771	OMIM:617879	Leber congenital amaurosis with early-onset deafness	.
HP:0007663	HP:0007663	Reduced visual acuity	0	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3	.		14
HP:0007663	HP:0007663	Reduced visual acuity	0	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis			66
HP:0007663	HP:0007663	Reduced visual acuity	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0007663	HP:0007663	Reduced visual acuity	0	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0007663	HP:0007663	Reduced visual acuity	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome			18
HP:0007663	HP:0007663	Reduced visual acuity	0	TYR CL E G H	7299	12442	OMIM:203100	Albinism, oculocutaneous, type IA	.		146
HP:0007663	HP:0007663	Reduced visual acuity	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0007663	HP:0007663	Reduced visual acuity	0	UCHL1 CL E G H	7345	12513	OMIM:615491	Spastic paraplegia 79, autosomal recessive			21
HP:0007663	HP:0007663	Reduced visual acuity	0	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14
HP:0007663	HP:0007663	Reduced visual acuity	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0007663	HP:0007663	Reduced visual acuity	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0007663	HP:0007663	Reduced visual acuity	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0007663	HP:0007663	Reduced visual acuity	0	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis
HP:0007663	HP:0007663	Reduced visual acuity	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12			1
HP:0007663	HP:0007663	Reduced visual acuity	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0007663	HP:0007663	Reduced visual acuity	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0007663	HP:0007663	Reduced visual acuity	0	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		47
HP:0007663	HP:0007663	Reduced visual acuity	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:0007663	HP:0007663	Reduced visual acuity	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:0007663	HP:0007663	Reduced visual acuity	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0007663	HP:0007663	Reduced visual acuity	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0007663	HP:0007663	Reduced visual acuity	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8	.		95
HP:0007663	HP:0007663	Reduced visual acuity	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0007663	HP:0007663	Reduced visual acuity	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome			8
HP:0007663	HP:0007663	Reduced visual acuity	0	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0007663	HP:0007663	Reduced visual acuity	0	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID			155
HP:0007663	HP:0007663	Reduced visual acuity	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0007663	HP:0007663	Reduced visual acuity	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0007663	HP:0007663	Reduced visual acuity	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0007663	HP:0007663	Reduced visual acuity	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0007663	HP:0007663	Reduced visual acuity	0	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11			2
HP:0007663	HP:0007663	Reduced visual acuity	0	ZEB1 CL E G H	6935	11642	OMIM:613270	Corneal dystrophy, fuchs endothelial, 6			8
HP:0007663	HP:0007663	Reduced visual acuity	0	ZEB1 CL E G H	6935	11642	ORPHA:98974	Fuchs endothelial corneal dystrophy			8
HP:0007663	HP:0007663	Reduced visual acuity	0	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		8
HP:0007663	HP:0007663	Reduced visual acuity	0	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0007663	HP:0007663	Reduced visual acuity	0	ZFYVE26 CL E G H	23503	20761	OMIM:270700	Spastic paraplegia 15, autosomal recessive	.		189
HP:0007663	HP:0007663	Reduced visual acuity	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0007663	HP:0007663	Reduced visual acuity	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		14
HP:0007663	HP:0007663	Reduced visual acuity	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0007663	HP:0007663	Reduced visual acuity	0	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72	.		14
HP:0007663	HP:0007663	Reduced visual acuity	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0007663	HP:0007663	Reduced visual acuity	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0007663	HP:0007663	Reduced visual acuity	0	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0007663	HP:0000618	Blindness	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0007663	HP:0000618	Blindness	1	ABCD1 CL E G H	215	61	OMIM:300100	Adrenoleukodystrophy	.		135
HP:0007663	HP:0000618	Blindness	1	ABCD1 CL E G H	215	61	ORPHA:139396	X-linked cerebral adrenoleukodystrophy	HP:0040284 - Very rare		135
HP:0007663	HP:0000618	Blindness	1	ACTB CL E G H	60	132	ORPHA:79107	Developmental malformations-deafness-dystonia syndrome	HP:0040282 - Frequent		72
HP:0007663	HP:0000646	Amblyopia	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		178
HP:0007663	HP:0000618	Blindness	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.		63
HP:0007663	HP:0000646	Amblyopia	1	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		84
HP:0007663	HP:0000646	Amblyopia	1	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare		47
HP:0007663	HP:0000646	Amblyopia	1	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:0007663	HP:0000618	Blindness	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0007663	HP:0000618	Blindness	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0007663	HP:0000618	Blindness	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0007663	HP:0000618	Blindness	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0007663	HP:0001117	Sudden loss of visual acuity	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		95
HP:0007663	HP:0001141	Severely reduced visual acuity	1	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		114
HP:0007663	HP:0000618	Blindness	1	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.		114
HP:0007663	HP:0030532	Visual acuity test abnormality	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0007663	HP:0000618	Blindness	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare		54
HP:0007663	HP:0001141	Severely reduced visual acuity	1	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.		37
HP:0007663	HP:0000618	Blindness	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040281 - Very frequent		404
HP:0007663	HP:0000618	Blindness	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0007663	HP:0000646	Amblyopia	1	AP1G1 CL E G H	164	555	OMIM:619467	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0007663	HP:0000646	Amblyopia	1	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		49
HP:0007663	HP:0000646	Amblyopia	1	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		48
HP:0007663	HP:0000646	Amblyopia	1	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		41
HP:0007663	HP:0000646	Amblyopia	1	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040284 - Very rare		18
HP:0007663	HP:0030532	Visual acuity test abnormality	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0007663	HP:0000618	Blindness	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0007663	HP:0000646	Amblyopia	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations	.		1
HP:0007663	HP:0000618	Blindness	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0007663	HP:0000618	Blindness	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0007663	HP:0000618	Blindness	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0007663	HP:0000618	Blindness	1	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0007663	HP:0000618	Blindness	1	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0007663	HP:0000618	Blindness	1	ASPA CL E G H	443	756	ORPHA:314911	Severe Canavan disease	HP:0040283 - Occasional		48
HP:0007663	HP:0000618	Blindness	1	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria			4
HP:0007663	HP:0000618	Blindness	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0007663	HP:0000618	Blindness	1	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0007663	HP:0000646	Amblyopia	1	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous			4
HP:0007663	HP:0032123	Ultra-low vision	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0007663	HP:0000618	Blindness	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	.		150
HP:0007663	HP:0000618	Blindness	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0007663	HP:0000618	Blindness	1	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0007663	HP:0000618	Blindness	1	ATRX CL E G H	546	886	ORPHA:847	Alpha-thalassemia-X-linked intellectual disability syndrome	HP:0040283 - Occasional		169
HP:0007663	HP:0000618	Blindness	1	ATXN7 CL E G H	6314	10560	ORPHA:94147	Spinocerebellar ataxia type 7	HP:0040283 - Occasional		8
HP:0007663	HP:0000618	Blindness	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.		43
HP:0007663	HP:0000646	Amblyopia	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:0007663	HP:0000618	Blindness	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.		17
HP:0007663	HP:0030532	Visual acuity test abnormality	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0007663	HP:0000618	Blindness	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare		184
HP:0007663	HP:0000618	Blindness	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0007663	HP:0000618	Blindness	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0007663	HP:0000618	Blindness	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0007663	HP:0000618	Blindness	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0007663	HP:0000618	Blindness	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.		182
HP:0007663	HP:0000618	Blindness	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6			38
HP:0007663	HP:0001117	Sudden loss of visual acuity	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		276
HP:0007663	HP:0000618	Blindness	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0007663	HP:0000646	Amblyopia	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0007663	HP:0030532	Visual acuity test abnormality	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration			20
HP:0007663	HP:0001141	Severely reduced visual acuity	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent		20
HP:0007663	HP:0000618	Blindness	1	C1QTNF5 CL E G H	114902	14344	OMIM:605670	Late-Onset retinal degeneration	.		20
HP:0007663	HP:0000618	Blindness	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0007663	HP:0000618	Blindness	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0007663	HP:0001141	Severely reduced visual acuity	1	CACNA1F CL E G H	778	1393	OMIM:300600	Aland island eye disease	.		58
HP:0007663	HP:0000618	Blindness	1	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory			6
HP:0007663	HP:0000646	Amblyopia	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent		242
HP:0007663	HP:0000618	Blindness	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		247
HP:0007663	HP:0000618	Blindness	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0007663	HP:0000618	Blindness	1	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare
HP:0007663	HP:0000646	Amblyopia	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0007663	HP:0000618	Blindness	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0007663	HP:0001117	Sudden loss of visual acuity	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		636
HP:0007663	HP:0001117	Sudden loss of visual acuity	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0007663	HP:0000618	Blindness	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0007663	HP:0000618	Blindness	1	CDH3 CL E G H	1001	1762	ORPHA:1573	Hypotrichosis with juvenile macular degeneration	HP:0040281 - Very frequent		87
HP:0007663	HP:0000618	Blindness	1	CDH3 CL E G H	1001	1762	OMIM:601553	Hypotrichosis, congenital, with juvenile macular dystrophy			87
HP:0007663	HP:0000618	Blindness	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0007663	HP:0000618	Blindness	1	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15	HP:0040283 - Occasional		34
HP:0007663	HP:0000618	Blindness	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5			342
HP:0007663	HP:0000618	Blindness	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		342
HP:0007663	HP:0001141	Severely reduced visual acuity	1	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		342
HP:0007663	HP:0000618	Blindness	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0007663	HP:0000618	Blindness	1	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21
HP:0007663	HP:0000618	Blindness	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0007663	HP:0000646	Amblyopia	1	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		35
HP:0007663	HP:0000646	Amblyopia	1	CHN1 CL E G H	1123	1943	OMIM:604356	DUANE RETRACTION SYNDROME 2; DURS2			35
HP:0007663	HP:0000646	Amblyopia	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:0007663	HP:0001141	Severely reduced visual acuity	1	CHST6 CL E G H	4166	6938	ORPHA:98969	Macular corneal dystrophy	HP:0040282 - Frequent		129
HP:0007663	HP:0000646	Amblyopia	1	CLCN6 CL E G H	1185	2024	OMIM:619173	NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0007663	HP:0000618	Blindness	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040283 - Occasional		102
HP:0007663	HP:0000618	Blindness	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0007663	HP:0000646	Amblyopia	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0007663	HP:0000618	Blindness	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0007663	HP:0000618	Blindness	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0007663	HP:0000618	Blindness	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0007663	HP:0000618	Blindness	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0007663	HP:0001141	Severely reduced visual acuity	1	CNGB3 CL E G H	54714	2153	OMIM:262300	Achromatopsia 3	.		194
HP:0007663	HP:0000646	Amblyopia	1	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		215
HP:0007663	HP:0000646	Amblyopia	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent		215
HP:0007663	HP:0000646	Amblyopia	1	COL25A1 CL E G H	84570	18603	ORPHA:91411	Congenital ptosis			3
HP:0007663	HP:0000618	Blindness	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.		284
HP:0007663	HP:0000646	Amblyopia	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.		193
HP:0007663	HP:0032122	Very low visual acuity	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		3
HP:0007663	HP:0000646	Amblyopia	1	COL8A2 CL E G H	1296	2216	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		3
HP:0007663	HP:0000646	Amblyopia	1	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		110
HP:0007663	HP:0000646	Amblyopia	1	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		110
HP:0007663	HP:0000646	Amblyopia	1	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		137
HP:0007663	HP:0000618	Blindness	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0007663	HP:0000646	Amblyopia	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0007663	HP:0001141	Severely reduced visual acuity	1	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		156
HP:0007663	HP:0000618	Blindness	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0007663	HP:0000618	Blindness	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1			291
HP:0007663	HP:0000618	Blindness	1	CRX CL E G H	1406	2383	OMIM:120970	Cone-Rod dystrophy 2	.		158
HP:0007663	HP:0001141	Severely reduced visual acuity	1	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		158
HP:0007663	HP:0000618	Blindness	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0007663	HP:0000646	Amblyopia	1	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types	.		33
HP:0007663	HP:0000646	Amblyopia	1	CRYBB1 CL E G H	1414	2397	OMIM:611544	Cataract 17, multiple types	HP:0040283 - Occasional		18
HP:0007663	HP:0000646	Amblyopia	1	CRYGC CL E G H	1420	2410	OMIM:604307	Cataract 2, multiple types	.		11
HP:0007663	HP:0000618	Blindness	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0007663	HP:0001117	Sudden loss of visual acuity	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare		88
HP:0007663	HP:0000618	Blindness	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0007663	HP:0001141	Severely reduced visual acuity	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0007663	HP:0000618	Blindness	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0007663	HP:0001141	Severely reduced visual acuity	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional		126
HP:0007663	HP:0000618	Blindness	1	CYP4V2 CL E G H	285440	23198	ORPHA:41751	Bietti crystalline dystrophy	HP:0040283 - Occasional		126
HP:0007663	HP:0000618	Blindness	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0007663	HP:0000618	Blindness	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:0007663	HP:0000618	Blindness	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0007663	HP:0030515	Moderately reduced visual acuity	1	DNM1L CL E G H	10059	2973	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		94
HP:0007663	HP:0000646	Amblyopia	1	DPP6 CL E G H	1804	3010	OMIM:616311	MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33			18
HP:0007663	HP:0000646	Amblyopia	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040283 - Occasional		134
HP:0007663	HP:0000618	Blindness	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040283 - Occasional		42
HP:0007663	HP:0000618	Blindness	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040283 - Occasional		24
HP:0007663	HP:0000618	Blindness	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040283 - Occasional		32
HP:0007663	HP:0000618	Blindness	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040283 - Occasional		38
HP:0007663	HP:0000618	Blindness	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	HP:0040283 - Occasional		48
HP:0007663	HP:0000646	Amblyopia	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0007663	HP:0000646	Amblyopia	1	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2			4
HP:0007663	HP:0000646	Amblyopia	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		186
HP:0007663	HP:0000646	Amblyopia	1	EPRS1 CL E G H	2058	3418	OMIM:617951	Leukodystrophy, hypomyelinating, 15	.
HP:0007663	HP:0000618	Blindness	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0007663	HP:0000618	Blindness	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0007663	HP:0000646	Amblyopia	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		12
HP:0007663	HP:0000618	Blindness	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0007663	HP:0000618	Blindness	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0007663	HP:0000618	Blindness	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0007663	HP:0000646	Amblyopia	1	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis	HP:0040283 - Occasional		1361
HP:0007663	HP:0000618	Blindness	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.		1361
HP:0007663	HP:0000618	Blindness	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0007663	HP:0000646	Amblyopia	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		175
HP:0007663	HP:0000646	Amblyopia	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040283 - Occasional		175
HP:0007663	HP:0000646	Amblyopia	1	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		175
HP:0007663	HP:0000646	Amblyopia	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome			145
HP:0007663	HP:0000646	Amblyopia	1	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		145
HP:0007663	HP:0000618	Blindness	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		157
HP:0007663	HP:0000618	Blindness	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		157
HP:0007663	HP:0000618	Blindness	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		184
HP:0007663	HP:0000646	Amblyopia	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		493
HP:0007663	HP:0000618	Blindness	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa	.	HP:0003581 - Adult onset	111
HP:0007663	HP:0000646	Amblyopia	1	FOXL2 CL E G H	668	1092	ORPHA:572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	HP:0040282 - Frequent		92
HP:0007663	HP:0000618	Blindness	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		61
HP:0007663	HP:0000618	Blindness	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent		353
HP:0007663	HP:0000618	Blindness	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0007663	HP:0000618	Blindness	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent		263
HP:0007663	HP:0032037	Mildly reduced visual acuity	1	FRMD7 CL E G H	90167	8079	OMIM:310700	Nystagmus 1, congenital, X-linked	.		38
HP:0007663	HP:0000618	Blindness	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0007663	HP:0000618	Blindness	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.		109
HP:0007663	HP:0001141	Severely reduced visual acuity	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0007663	HP:0000618	Blindness	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0007663	HP:0000646	Amblyopia	1	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0007663	HP:0000618	Blindness	1	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous			109
HP:0007663	HP:0000618	Blindness	1	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional		109
HP:0007663	HP:0000618	Blindness	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		160
HP:0007663	HP:0000618	Blindness	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0007663	HP:0000618	Blindness	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040283 - Occasional		160
HP:0007663	HP:0000618	Blindness	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare		29
HP:0007663	HP:0000646	Amblyopia	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		8
HP:0007663	HP:0001141	Severely reduced visual acuity	1	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		64
HP:0007663	HP:0032123	Ultra-low vision	1	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17			64
HP:0007663	HP:0000618	Blindness	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0007663	HP:0000618	Blindness	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040281 - Very frequent		120
HP:0007663	HP:0000618	Blindness	1	GM2A CL E G H	2760	4367	OMIM:272750	Gm2-Gangliosidosis, ab variant	.		69
HP:0007663	HP:0000618	Blindness	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		34
HP:0007663	HP:0000618	Blindness	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0007663	HP:0000618	Blindness	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.		101
HP:0007663	HP:0000618	Blindness	1	GNAT1 CL E G H	2779	4393	OMIM:610444	Night blindness, congenital stationary, autosomal dominant 3	.		39
HP:0007663	HP:0000618	Blindness	1	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		23
HP:0007663	HP:0000618	Blindness	1	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		8
HP:0007663	HP:0000646	Amblyopia	1	GPR143 CL E G H	4935	20145	OMIM:300814	Nystagmus 6, congenital, X-linked	.		64
HP:0007663	HP:0000646	Amblyopia	1	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		33
HP:0007663	HP:0032122	Very low visual acuity	1	GRHL2 CL E G H	79977	2799	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		33
HP:0007663	HP:0000618	Blindness	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent		80
HP:0007663	HP:0000618	Blindness	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0007663	HP:0001141	Severely reduced visual acuity	1	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		124
HP:0007663	HP:0000618	Blindness	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0007663	HP:0000646	Amblyopia	1	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0007663	HP:0000646	Amblyopia	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0007663	HP:0000646	Amblyopia	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0007663	HP:0000618	Blindness	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0007663	HP:0000646	Amblyopia	1	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF			33
HP:0007663	HP:0000618	Blindness	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0007663	HP:0000618	Blindness	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0007663	HP:0000618	Blindness	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0007663	HP:0000618	Blindness	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0007663	HP:0032123	Ultra-low vision	1	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0007663	HP:0001141	Severely reduced visual acuity	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0007663	HP:0000618	Blindness	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0007663	HP:0000646	Amblyopia	1	HPS6 CL E G H	79803	18817	OMIM:614075	Hermansky-Pudlak syndrome 6			45
HP:0007663	HP:0000618	Blindness	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040282 - Frequent		19
HP:0007663	HP:0000618	Blindness	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0007663	HP:0000618	Blindness	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0007663	HP:0000618	Blindness	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0007663	HP:0001141	Severely reduced visual acuity	1	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		148
HP:0007663	HP:0000618	Blindness	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0007663	HP:0000618	Blindness	1	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80	.		148
HP:0007663	HP:0000618	Blindness	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0007663	HP:0000618	Blindness	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0007663	HP:0000618	Blindness	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0007663	HP:0000618	Blindness	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0007663	HP:0000618	Blindness	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0007663	HP:0000618	Blindness	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0007663	HP:0001141	Severely reduced visual acuity	1	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		52
HP:0007663	HP:0000618	Blindness	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0007663	HP:0030515	Moderately reduced visual acuity	1	IMPG1 CL E G H	3617	6055	OMIM:616151	Macular dystrophy, vitelliform, 4	.		4
HP:0007663	HP:0000618	Blindness	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0007663	HP:0030515	Moderately reduced visual acuity	1	IMPG2 CL E G H	50939	18362	OMIM:616152	Macular dystrophy, vitelliform, 5	.		120
HP:0007663	HP:0000618	Blindness	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0007663	HP:0001141	Severely reduced visual acuity	1	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		61
HP:0007663	HP:0000618	Blindness	1	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		119
HP:0007663	HP:0000618	Blindness	1	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		69
HP:0007663	HP:0000618	Blindness	1	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare		80
HP:0007663	HP:0000646	Amblyopia	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0007663	HP:0001141	Severely reduced visual acuity	1	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		42
HP:0007663	HP:0000646	Amblyopia	1	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0007663	HP:0000618	Blindness	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0007663	HP:0000646	Amblyopia	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0007663	HP:0000618	Blindness	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0007663	HP:0000618	Blindness	1	KIF14 CL E G H	9928	19181	OMIM:617914	Microcephaly 20, primary, autosomal recessive	.		9
HP:0007663	HP:0000618	Blindness	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0007663	HP:0000618	Blindness	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0007663	HP:0000618	Blindness	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0007663	HP:0000646	Amblyopia	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040282 - Frequent		35
HP:0007663	HP:0000646	Amblyopia	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.		35
HP:0007663	HP:0000618	Blindness	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome	.		92
HP:0007663	HP:0000618	Blindness	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		136
HP:0007663	HP:0001141	Severely reduced visual acuity	1	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		70
HP:0007663	HP:0000646	Amblyopia	1	LIM2 CL E G H	3982	6610	OMIM:615277	Cataract 19, multiple types	.		16
HP:0007663	HP:0000646	Amblyopia	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0007663	HP:0000618	Blindness	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		8
HP:0007663	HP:0000646	Amblyopia	1	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent		4
HP:0007663	HP:0001141	Severely reduced visual acuity	1	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		62
HP:0007663	HP:0000618	Blindness	1	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14			62
HP:0007663	HP:0000618	Blindness	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0007663	HP:0000618	Blindness	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.		125
HP:0007663	HP:0000618	Blindness	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.		125
HP:0007663	HP:0000618	Blindness	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0007663	HP:0001141	Severely reduced visual acuity	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0007663	HP:0000618	Blindness	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0007663	HP:0000618	Blindness	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.		125
HP:0007663	HP:0001141	Severely reduced visual acuity	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent		125
HP:0007663	HP:0030532	Visual acuity test abnormality	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0007663	HP:0030515	Moderately reduced visual acuity	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040284 - Very rare		125
HP:0007663	HP:0000618	Blindness	1	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional		125
HP:0007663	HP:0000646	Amblyopia	1	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		63
HP:0007663	HP:0000618	Blindness	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0007663	HP:0000646	Amblyopia	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional		11
HP:0007663	HP:0000646	Amblyopia	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0007663	HP:0000618	Blindness	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0007663	HP:0000618	Blindness	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0007663	HP:0001117	Sudden loss of visual acuity	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040283 - Occasional		462
HP:0007663	HP:0000618	Blindness	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0007663	HP:0000618	Blindness	1	MFSD8 CL E G H	256471	28486	OMIM:610951	Ceroid lipofuscinosis, neuronal, 7	.		120
HP:0007663	HP:0000646	Amblyopia	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0007663	HP:0000646	Amblyopia	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0007663	HP:0000618	Blindness	1	MTR CL E G H	4548	7468	OMIM:250940	Homocystinuria-megaloblastic anemia, cblg Complementation type	HP:0040283 - Occasional		217
HP:0007663	HP:0000618	Blindness	1	MTRR CL E G H	4552	7473	OMIM:236270	Homocystinuria-megaloblastic anemia, cbl E type	HP:0040283 - Occasional		88
HP:0007663	HP:0000618	Blindness	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare		81
HP:0007663	HP:0000618	Blindness	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0007663	HP:0000618	Blindness	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0007663	HP:0000618	Blindness	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0007663	HP:0000618	Blindness	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0007663	HP:0000618	Blindness	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040281 - Very frequent		96
HP:0007663	HP:0000618	Blindness	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0007663	HP:0001141	Severely reduced visual acuity	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0007663	HP:0000618	Blindness	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent		39
HP:0007663	HP:0000618	Blindness	1	NDP CL E G H	4693	7678	OMIM:310600	Norrie disease	.	HP:0003593 - Infantile onset	39
HP:0007663	HP:0000646	Amblyopia	1	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0007663	HP:0000618	Blindness	1	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous			39
HP:0007663	HP:0000618	Blindness	1	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional		39
HP:0007663	HP:0000618	Blindness	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		7
HP:0007663	HP:0000618	Blindness	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		32
HP:0007663	HP:0000618	Blindness	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		1
HP:0007663	HP:0000618	Blindness	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		40
HP:0007663	HP:0000618	Blindness	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		26
HP:0007663	HP:0000618	Blindness	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		31
HP:0007663	HP:0000618	Blindness	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		50
HP:0007663	HP:0000618	Blindness	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		34
HP:0007663	HP:0000618	Blindness	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0007663	HP:0000618	Blindness	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0007663	HP:0000618	Blindness	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		3
HP:0007663	HP:0000646	Amblyopia	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0007663	HP:0000618	Blindness	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0007663	HP:0000618	Blindness	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		9
HP:0007663	HP:0000618	Blindness	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		16
HP:0007663	HP:0000618	Blindness	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		81
HP:0007663	HP:0000618	Blindness	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		65
HP:0007663	HP:0000618	Blindness	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		22
HP:0007663	HP:0000618	Blindness	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		27
HP:0007663	HP:0000618	Blindness	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1	.		27
HP:0007663	HP:0000618	Blindness	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		21
HP:0007663	HP:0000618	Blindness	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		38
HP:0007663	HP:0000618	Blindness	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		42
HP:0007663	HP:0000618	Blindness	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		74
HP:0007663	HP:0000618	Blindness	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0007663	HP:0000618	Blindness	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		27
HP:0007663	HP:0000618	Blindness	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0007663	HP:0000618	Blindness	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0007663	HP:0000618	Blindness	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare		220
HP:0007663	HP:0030532	Visual acuity test abnormality	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0007663	HP:0000618	Blindness	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0007663	HP:0000646	Amblyopia	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0007663	HP:0000646	Amblyopia	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0007663	HP:0001141	Severely reduced visual acuity	1	NHS CL E G H	4810	7820	OMIM:302200	Cataract, congenital total, with posterior sutural opacities in heterozygotes	.		88
HP:0007663	HP:0000618	Blindness	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040283 - Occasional		217
HP:0007663	HP:0001141	Severely reduced visual acuity	1	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		15
HP:0007663	HP:0032123	Ultra-low vision	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0007663	HP:0000646	Amblyopia	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1			22
HP:0007663	HP:0001141	Severely reduced visual acuity	1	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.		220
HP:0007663	HP:0000646	Amblyopia	1	NPHP4 CL E G H	261734	19104	OMIM:606996	Senior-Loken syndrome 4	.		220
HP:0007663	HP:0000618	Blindness	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0007663	HP:0000646	Amblyopia	1	NR2F1 CL E G H	7025	7975	ORPHA:401777	Optic atrophy-intellectual disability syndrome	HP:0040283 - Occasional		37
HP:0007663	HP:0000618	Blindness	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0007663	HP:0000618	Blindness	1	NRL CL E G H	4901	8002	OMIM:613750	Retinitis pigmentosa 27	.		30
HP:0007663	HP:0000618	Blindness	1	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0007663	HP:0000618	Blindness	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		89
HP:0007663	HP:0000618	Blindness	1	OAT CL E G H	4942	8091	ORPHA:414	Gyrate atrophy of choroid and retina	HP:0040282 - Frequent		94
HP:0007663	HP:0000618	Blindness	1	OAT CL E G H	4942	8091	OMIM:258870	Ornithine aminotransferase deficiency	.		94
HP:0007663	HP:0000646	Amblyopia	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040281 - Very frequent		88
HP:0007663	HP:0000618	Blindness	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0007663	HP:0001141	Severely reduced visual acuity	1	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0007663	HP:0000646	Amblyopia	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0007663	HP:0030515	Moderately reduced visual acuity	1	OPA1 CL E G H	4976	8140	ORPHA:98673	Autosomal dominant optic atrophy, classic form	HP:0040282 - Frequent		214
HP:0007663	HP:0000618	Blindness	1	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome			214
HP:0007663	HP:0000618	Blindness	1	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional		163
HP:0007663	HP:0001141	Severely reduced visual acuity	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0007663	HP:0032122	Very low visual acuity	1	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		4
HP:0007663	HP:0000646	Amblyopia	1	OVOL2 CL E G H	58495	15804	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		4
HP:0007663	HP:0032037	Mildly reduced visual acuity	1	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration			5
HP:0007663	HP:0000646	Amblyopia	1	P4HTM CL E G H	54681	28858	OMIM:618493	Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities	.
HP:0007663	HP:0000618	Blindness	1	PANK2 CL E G H	80025	15894	ORPHA:216873	Atypical pantothenate kinase-associated neurodegeneration	HP:0040284 - Very rare		55
HP:0007663	HP:0000618	Blindness	1	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040284 - Very rare		55
HP:0007663	HP:0030532	Visual acuity test abnormality	1	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia			194
HP:0007663	HP:0000646	Amblyopia	1	PAX6 CL E G H	5080	8620	ORPHA:35737	Morning glory disc anomaly	HP:0040281 - Very frequent		194
HP:0007663	HP:0000618	Blindness	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0007663	HP:0001141	Severely reduced visual acuity	1	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		11
HP:0007663	HP:0000618	Blindness	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0007663	HP:0000618	Blindness	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0007663	HP:0000618	Blindness	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0007663	HP:0000618	Blindness	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare		9
HP:0007663	HP:0030532	Visual acuity test abnormality	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0007663	HP:0000618	Blindness	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		88
HP:0007663	HP:0000646	Amblyopia	1	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0007663	HP:0000618	Blindness	1	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent		98
HP:0007663	HP:0000618	Blindness	1	PGK1 CL E G H	5230	8896	ORPHA:713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	HP:0040284 - Very rare		21
HP:0007663	HP:0000646	Amblyopia	1	PHOX2A CL E G H	401	691	OMIM:602078	Fibrosis of extraocular muscles, congenital, 2	.		6
HP:0007663	HP:0000646	Amblyopia	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0007663	HP:0000646	Amblyopia	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0007663	HP:0000618	Blindness	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare		162
HP:0007663	HP:0030532	Visual acuity test abnormality	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0007663	HP:0000618	Blindness	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.		12
HP:0007663	HP:0000646	Amblyopia	1	PITX2 CL E G H	5308	9005	OMIM:180550	Ring dermoid of cornea			51
HP:0007663	HP:0000618	Blindness	1	PITX3 CL E G H	5309	9006	OMIM:610623	Cataract 11, multiple types	.		6
HP:0007663	HP:0000618	Blindness	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040283 - Occasional		133
HP:0007663	HP:0000618	Blindness	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.		11
HP:0007663	HP:0000618	Blindness	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.		105
HP:0007663	HP:0000618	Blindness	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare		35
HP:0007663	HP:0000618	Blindness	1	POLG CL E G H	5428	9179	ORPHA:726	Alpers-Huttenlocher syndrome	HP:0040283 - Occasional		464
HP:0007663	HP:0000646	Amblyopia	1	POLR3GL CL E G H	84265	28466	OMIM:619234	SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0007663	HP:0000618	Blindness	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		180
HP:0007663	HP:0000618	Blindness	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0007663	HP:0000618	Blindness	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		18
HP:0007663	HP:0000618	Blindness	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		213
HP:0007663	HP:0000618	Blindness	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		213
HP:0007663	HP:0000618	Blindness	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		221
HP:0007663	HP:0000618	Blindness	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.		221
HP:0007663	HP:0030532	Visual acuity test abnormality	1	POU3F4 CL E G H	5456	9217	ORPHA:1435	Xq21 microdeletion syndrome	HP:0040282 - Frequent		40
HP:0007663	HP:0000618	Blindness	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.	HP:0011463 - Childhood onset	172
HP:0007663	HP:0000618	Blindness	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0007663	HP:0000618	Blindness	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0007663	HP:0000618	Blindness	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0007663	HP:0001141	Severely reduced visual acuity	1	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0007663	HP:0000618	Blindness	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.		75
HP:0007663	HP:0000618	Blindness	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0007663	HP:0000618	Blindness	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0007663	HP:0000618	Blindness	1	PRPF31 CL E G H	26121	15446	OMIM:600138	Retinitis pigmentosa 11	.		70
HP:0007663	HP:0000618	Blindness	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0007663	HP:0000618	Blindness	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0007663	HP:0000618	Blindness	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0007663	HP:0000618	Blindness	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0007663	HP:0000618	Blindness	1	PRPS1 CL E G H	5631	9462	ORPHA:1187	Lethal ataxia with deafness and optic atrophy	HP:0040281 - Very frequent		49
HP:0007663	HP:0000646	Amblyopia	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0007663	HP:0000618	Blindness	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040283 - Occasional		81
HP:0007663	HP:0000646	Amblyopia	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0007663	HP:0030515	Moderately reduced visual acuity	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional		3
HP:0007663	HP:0000618	Blindness	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0007663	HP:0001141	Severely reduced visual acuity	1	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		95
HP:0007663	HP:0000618	Blindness	1	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12			95
HP:0007663	HP:0001141	Severely reduced visual acuity	1	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		45
HP:0007663	HP:0000618	Blindness	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0007663	HP:0000618	Blindness	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0007663	HP:0000618	Blindness	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0007663	HP:0000618	Blindness	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0007663	HP:0000618	Blindness	1	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4	.		107
HP:0007663	HP:0000646	Amblyopia	1	RIC1 CL E G H	57589	17686	OMIM:618761	CATIFA SYNDROME; CATIFA
HP:0007663	HP:0000618	Blindness	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0007663	HP:0000618	Blindness	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0007663	HP:0000646	Amblyopia	1	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA			1
HP:0007663	HP:0000618	Blindness	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0007663	HP:0000618	Blindness	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0007663	HP:0000618	Blindness	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0007663	HP:0000618	Blindness	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0007663	HP:0001141	Severely reduced visual acuity	1	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		129
HP:0007663	HP:0000618	Blindness	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II	.		129
HP:0007663	HP:0000618	Blindness	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0007663	HP:0001141	Severely reduced visual acuity	1	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20	.		129
HP:0007663	HP:0000618	Blindness	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0007663	HP:0001141	Severely reduced visual acuity	1	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		109
HP:0007663	HP:0001141	Severely reduced visual acuity	1	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6	.		109
HP:0007663	HP:0000646	Amblyopia	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0007663	HP:0000618	Blindness	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0007663	HP:0000646	Amblyopia	1	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional		86
HP:0007663	HP:0000618	Blindness	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0007663	HP:0000618	Blindness	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0007663	HP:0000618	Blindness	1	SCN1A CL E G H	6323	10585	OMIM:609634	Migraine, familial hemiplegic, 3	.		1053
HP:0007663	HP:0000646	Amblyopia	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia	HP:0040283 - Occasional		357
HP:0007663	HP:0000618	Blindness	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		304
HP:0007663	HP:0000618	Blindness	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		16
HP:0007663	HP:0000618	Blindness	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		237
HP:0007663	HP:0000618	Blindness	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040284 - Very rare		129
HP:0007663	HP:0000618	Blindness	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0007663	HP:0000618	Blindness	1	SEMA4A CL E G H	64218	10729	OMIM:610282	Retinitis pigmentosa 35	.		48
HP:0007663	HP:0000646	Amblyopia	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0007663	HP:0000618	Blindness	1	SLC24A1 CL E G H	9187	10975	OMIM:613830	Night blindness, congenital stationary, type 1D	.		66
HP:0007663	HP:0000618	Blindness	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0007663	HP:0000646	Amblyopia	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		504
HP:0007663	HP:0000646	Amblyopia	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040281 - Very frequent		146
HP:0007663	HP:0030532	Visual acuity test abnormality	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0007663	HP:0000618	Blindness	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare		87
HP:0007663	HP:0000618	Blindness	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare		47
HP:0007663	HP:0030532	Visual acuity test abnormality	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0007663	HP:0000646	Amblyopia	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040282 - Frequent		174
HP:0007663	HP:0000618	Blindness	1	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040282 - Frequent		174
HP:0007663	HP:0000646	Amblyopia	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome			22
HP:0007663	HP:0000618	Blindness	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare		22
HP:0007663	HP:0030532	Visual acuity test abnormality	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0007663	HP:0000618	Blindness	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0007663	HP:0000646	Amblyopia	1	SOBP CL E G H	55084	29256	OMIM:613671	Mental retardation, anterior maxillary protrusion, and strabismus	HP:0040283 - Occasional		29
HP:0007663	HP:0001141	Severely reduced visual acuity	1	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		48
HP:0007663	HP:0000618	Blindness	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0007663	HP:0000618	Blindness	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.		1
HP:0007663	HP:0000618	Blindness	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0007663	HP:0001141	Severely reduced visual acuity	1	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0007663	HP:0030532	Visual acuity test abnormality	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0007663	HP:0000618	Blindness	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare		124
HP:0007663	HP:0000646	Amblyopia	1	TANGO2 CL E G H	128989	25439	ORPHA:480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0007663	HP:0000646	Amblyopia	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0007663	HP:0000618	Blindness	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.		271
HP:0007663	HP:0000646	Amblyopia	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0007663	HP:0000618	Blindness	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.		82
HP:0007663	HP:0000618	Blindness	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare		238
HP:0007663	HP:0030532	Visual acuity test abnormality	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0007663	HP:0000646	Amblyopia	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0007663	HP:0000618	Blindness	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		1
HP:0007663	HP:0000618	Blindness	1	TIMP3 CL E G H	7078	11822	OMIM:136900	Sorsby fundus dystrophy	.		95
HP:0007663	HP:0001141	Severely reduced visual acuity	1	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040283 - Occasional		95
HP:0007663	HP:0000618	Blindness	1	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040283 - Occasional		95
HP:0007663	HP:0000618	Blindness	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0007663	HP:0000618	Blindness	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		4
HP:0007663	HP:0000618	Blindness	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		39
HP:0007663	HP:0000618	Blindness	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		45
HP:0007663	HP:0000618	Blindness	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		33
HP:0007663	HP:0000618	Blindness	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		82
HP:0007663	HP:0000618	Blindness	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0007663	HP:0000618	Blindness	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.		44
HP:0007663	HP:0000618	Blindness	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0007663	HP:0000618	Blindness	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0007663	HP:0030532	Visual acuity test abnormality	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0007663	HP:0000646	Amblyopia	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0007663	HP:0000618	Blindness	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0007663	HP:0001141	Severely reduced visual acuity	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0007663	HP:0000618	Blindness	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0007663	HP:0000618	Blindness	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0007663	HP:0030532	Visual acuity test abnormality	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0007663	HP:0000646	Amblyopia	1	TUBB3 CL E G H	10381	20772	OMIM:600638	Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement	.		64
HP:0007663	HP:0001141	Severely reduced visual acuity	1	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent
HP:0007663	HP:0001141	Severely reduced visual acuity	1	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent		66
HP:0007663	HP:0000618	Blindness	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0007663	HP:0000646	Amblyopia	1	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040283 - Occasional		18
HP:0007663	HP:0000618	Blindness	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0007663	HP:0000618	Blindness	1	UFM1 CL E G H	51569	20597	OMIM:617899	Leukodystrophy, hypomyelinating, 14	HP:0040284 - Very rare
HP:0007663	HP:0000618	Blindness	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040284 - Very rare		31
HP:0007663	HP:0000618	Blindness	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare		41
HP:0007663	HP:0000618	Blindness	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0007663	HP:0001141	Severely reduced visual acuity	1	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040281 - Very frequent
HP:0007663	HP:0000646	Amblyopia	1	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		47
HP:0007663	HP:0032122	Very low visual acuity	1	VSX1 CL E G H	30813	12723	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		47
HP:0007663	HP:0000646	Amblyopia	1	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:0007663	HP:0000646	Amblyopia	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:0007663	HP:0000646	Amblyopia	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0007663	HP:0000646	Amblyopia	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0007663	HP:0000646	Amblyopia	1	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.		8
HP:0007663	HP:0001141	Severely reduced visual acuity	1	WFS1 CL E G H	7466	12762	OMIM:614296	Wolfram-Like syndrome, autosomal dominant			389
HP:0007663	HP:0000618	Blindness	1	WHRN CL E G H	25861	16361	OMIM:611383	Usher syndrome, type IID	.		155
HP:0007663	HP:0000618	Blindness	1	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0007663	HP:0000646	Amblyopia	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0007663	HP:0000646	Amblyopia	1	YME1L1 CL E G H	10730	12843	OMIM:617302	Optic atrophy 11	.		2
HP:0007663	HP:0032122	Very low visual acuity	1	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		8
HP:0007663	HP:0000646	Amblyopia	1	ZEB1 CL E G H	6935	11642	ORPHA:98973	Posterior polymorphous corneal dystrophy	HP:0040283 - Occasional		8
HP:0007663	HP:0000646	Amblyopia	1	ZFHX4 CL E G H	79776	30939	ORPHA:91411	Congenital ptosis
HP:0007663	HP:0000646	Amblyopia	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0007663	HP:0001141	Severely reduced visual acuity	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0007663	HP:0000618	Blindness	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0007663	HP:0000618	Blindness	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0007663	HP:0000618	Blindness	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent		49
HP:0007663	HP:0000618	Blindness	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0007663	HP:0001141	Severely reduced visual acuity	1	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.		27
HP:0007663	HP:0032285	Ultra-low vision with retained light projection	2	CL E G H
HP:0007663	HP:0030535	Abnormal pinhole visual acuity test	2	CL E G H
HP:0007663	HP:0030533	Abnormal unaided visual acuity test	2	CL E G H
HP:0007663	HP:0030552	Visual acuity light perception without projection	2	CL E G H
HP:0007663	HP:0030553	Visual acuity no light perception	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare		3179
HP:0007663	HP:0007875	Congenital blindness	2	ATIC CL E G H	471	794	ORPHA:250977	AICA-ribosiduria	HP:0040281 - Very frequent		4
HP:0007663	HP:0007875	Congenital blindness	2	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.		4
HP:0007663	HP:0032287	Ultra-low vision with no light perception	2	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive			4
HP:0007663	HP:0030534	Abnormal best corrected visual acuity test	2	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040281 - Very frequent		20
HP:0007663	HP:0007875	Congenital blindness	2	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.		342
HP:0007663	HP:0032284	Ultra-low vision with retained motion projection	2	GDF6 CL E G H	392255	4221	OMIM:615360	LEBER CONGENITAL AMAUROSIS 17; LCA17			64
HP:0007663	HP:0032286	Ultra-low vision with retained light perception	2	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome			2
HP:0007663	HP:0007875	Congenital blindness	2	LRAT CL E G H	9227	6685	OMIM:613341	Leber congenital amaurosis 14	.		62
HP:0007663	HP:0030551	Visual acuity light perception with projection	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040283 - Occasional		125
HP:0007663	HP:0007875	Congenital blindness	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent		125
HP:0007663	HP:0032286	Ultra-low vision with retained light perception	2	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0007663	HP:0007875	Congenital blindness	2	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040283 - Occasional		2
HP:0007663	HP:0030534	Abnormal best corrected visual acuity test	2	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040281 - Very frequent		194
HP:0007663	HP:0007875	Congenital blindness	2	RD3 CL E G H	343035	19689	OMIM:610612	Leber congenital amaurosis 12	.	HP:0003577 - Congenital onset	95
HP:0007663	HP:0007875	Congenital blindness	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0007663	HP:0030534	Abnormal best corrected visual acuity test	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0007663	HP:0007875	Congenital blindness	2	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040283 - Occasional		9
HP:0007663	HP:0030572	Pinhole visual acuity 0.4 LogMAR	3	CL E G H
HP:0007663	HP:0030558	Best corrected visual acuity 0.5 LogMAR	3	CL E G H
HP:0007663	HP:0030543	Unaided visual acuity 0.8 LogMAR	3	CL E G H
HP:0007663	HP:0030578	Pinhole visual acuity 1.0 LogMAR	3	CL E G H
HP:0007663	HP:0030565	Best corrected visual acuity 1.2 LogMAR	3	CL E G H
HP:0007663	HP:0030549	Unaided visual acuity 2.0 LogMAR	3	CL E G H
HP:0007663	HP:0030536	Unaided visual acuity 0.1 LogMAR	3	CL E G H
HP:0007663	HP:0030571	Pinhole visual acuity 0.3 LogMAR	3	CL E G H
HP:0007663	HP:0030557	Best corrected visual acuity 0.4 LogMAR	3	CL E G H
HP:0007663	HP:0030542	Unaided visual acuity 0.7 LogMAR	3	CL E G H
HP:0007663	HP:0030577	Pinhole visual acuity 0.9 LogMAR	3	CL E G H
HP:0007663	HP:0030564	Best corrected visual acuity 1.1 LogMAR	3	CL E G H
HP:0007663	HP:0030548	Unaided visual acuity 1.3 LogMAR	3	CL E G H
HP:0007663	HP:0030583	Pinhole visual acuity 3.0 LogMAR	3	CL E G H
HP:0007663	HP:0030556	Best corrected visual acuity 0.3 LogMAR	3	CL E G H
HP:0007663	HP:0030570	Pinhole visual acuity 0.2 LogMAR	3	CL E G H
HP:0007663	HP:0030541	Unaided visual acuity 0.6 LogMAR	3	CL E G H
HP:0007663	HP:0030576	Pinhole visual acuity 0.8 LogMAR	3	CL E G H
HP:0007663	HP:0030563	Best corrected visual acuity 1.0 LogMAR	3	CL E G H
HP:0007663	HP:0030547	Unaided visual acuity 1.2 LogMAR	3	CL E G H
HP:0007663	HP:0030582	Pinhole visual acuity 2.0 LogMAR	3	CL E G H
HP:0007663	HP:0030555	Best corrected visual acuity 0.2 LogMAR	3	CL E G H
HP:0007663	HP:0030569	Pinhole visual acuity 0.1 LogMAR	3	CL E G H
HP:0007663	HP:0030540	Unaided visual acuity 0.5 LogMAR	3	CL E G H
HP:0007663	HP:0030575	Pinhole visual acuity 0.7 LogMAR	3	CL E G H
HP:0007663	HP:0030561	Best corrected visual acuity 0.8 LogMAR	3	CL E G H
HP:0007663	HP:0030562	Best corrected visual acuity 0.9 LogMAR	3	CL E G H
HP:0007663	HP:0030546	Unaided visual acuity 1.1 LogMAR	3	CL E G H
HP:0007663	HP:0030581	Pinhole visual acuity 1.3 LogMAR	3	CL E G H
HP:0007663	HP:0030554	Best corrected visual acuity 0.1 LogMAR	3	CL E G H
HP:0007663	HP:0030568	Best corrected visual acuity 3.0 LogMAR	3	CL E G H
HP:0007663	HP:0030539	Unaided visual acuity 0.4 LogMAR	3	CL E G H
HP:0007663	HP:0030574	Pinhole visual acuity 0.6 LogMAR	3	CL E G H
HP:0007663	HP:0030560	Best corrected visual acuity 0.6 LogMAR	3	CL E G H
HP:0007663	HP:0030545	Unaided visual acuity 1.0 LogMAR	3	CL E G H
HP:0007663	HP:0030580	Pinhole visual acuity 1.2 LogMAR	3	CL E G H
HP:0007663	HP:0030567	Best corrected visual acuity 2.0 LogMAR	3	CL E G H
HP:0007663	HP:0030538	Unaided visual acuity 0.3 LogMAR	3	CL E G H
HP:0007663	HP:0030573	Pinhole visual acuity 0.5 LogMAR	3	CL E G H
HP:0007663	HP:0030559	Best corrected visual acuity 0.7 LogMAR	3	CL E G H
HP:0007663	HP:0030544	Unaided visual acuity 0.9 LogMAR	3	CL E G H
HP:0007663	HP:0030579	Pinhole visual acuity 1.1 LogMAR	3	CL E G H
HP:0007663	HP:0030566	Best corrected visual acuity 1.3 LogMAR	3	CL E G H
HP:0007663	HP:0030550	Unaided visual acuity 3.0 LogMAR	3	CL E G H
HP:0007663	HP:0030537	Unaided visual acuity 0.2 LogMAR	3	CL E G H