Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	826
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19		826
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia		178
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75		2
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	175
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4		114
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	6
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	29
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia		10
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	114
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	97
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	182
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50		182
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY		182
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	23
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory		6
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation		37
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15		147
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	147
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	71
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26		71
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA		47
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.	27
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	60
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61		60
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	44
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49		44
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia		82
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	164
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia		194
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps		193
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	COL4A1 CL E G H	1282	2202	ORPHA:73229	HANAC syndrome		193
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of		193
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	156
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12		156
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	158
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts		160
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy		88
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis		51
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma		101
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		44
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent	79
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma		54
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia		186
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		112
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.	42
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy		42
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	209
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25		209
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency		28
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	56
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent	1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1		1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	26
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30		26
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1		109
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy		109
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity	HP:0040281 - Very frequent	109
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia		8
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa		129
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1		120
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant		69
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia		19
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID		12
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	36
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6		124
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I		124
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	86
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79		11
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040281 - Very frequent	4
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess		14
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess		14
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46		30
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	148
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80		148
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71		48
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IGFBP7 CL E G H	3490	5476	OMIM:614224	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis		2
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti		52
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti		52
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	52
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10		52
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	120
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56		120
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA		202
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	3
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	42
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1		92
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation		92
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		70
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome		3
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia		106
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	62
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		62
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1		125
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4		125
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy		125
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity	HP:0040281 - Very frequent	125
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	53
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62		53
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA		84
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	75
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13		127
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional	9
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma		47
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NDP CL E G H	4693	7678	ORPHA:190	Coats disease	HP:0040281 - Very frequent	39
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent	39
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity	HP:0040281 - Very frequent	39
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy		65
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1		43
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	58
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	30
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	201
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23		201
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome		1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation		21
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	116
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43		116
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	126
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40		126
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia		80
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	18
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57		18
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia		14
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	180
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	39
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36		39
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	110
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41		110
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18		28
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	70
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	2
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	51
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	94
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	159
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7		159
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens		159
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	108
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13		45
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens		32
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	5
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA		572
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		572
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	28
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44		28
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	107
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4		107
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens		107
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	47
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens		47
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	38
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7		38
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	111
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1		111
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	284
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88		284
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	45
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	129
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20		129
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		129
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia		200
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	200
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6		109
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency		113
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	32
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA		237
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		237
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA		129
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		129
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10		48
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib		110
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	4
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia		504
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent	174
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	83
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33		83
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	48
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		48
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2		2
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome		32
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA		131
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	61
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31		61
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040281 - Very frequent	56
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	41
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51		41
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity		1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	1
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	66
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14		66
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	777
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39		777
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA		490
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma		490
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy		14
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	14
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72		14
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent	27
HP:0008046	HP:0008046	Abnormal retinal vascular morphology	0	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58		27
HP:0008046	HP:0007986	Increased retinal vascularity	1	CL E G H
HP:0008046	HP:0007815	Abnormal distribution of retinal arterioles and venules	1	CL E G H
HP:0008046	HP:0032416	Retinal microaneurysm	1	CL E G H
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3		826
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19	.	826
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0008046	HP:0007763	Retinal telangiectasia	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75		2
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.	114
HP:0008046	HP:0000660	Lipemia retinalis	1	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY		27
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1		29
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional	10
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0007763	Retinal telangiectasia	1	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1		114
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9		119
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50		182
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY		182
HP:0008046	HP:0030666	Retinal neovascularization	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.	182
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0008046	HP:0030666	Retinal neovascularization	1	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory		6
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1		4
HP:0008046	HP:0007797	Retinal vascular malformation	1	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation		37
HP:0008046	HP:0001095	Hypertensive retinopathy	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	1
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15		147
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26		71
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA		47
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61		60
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49		44
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional	82
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional	194
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome		61
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps		193
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps		193
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	COL4A1 CL E G H	1282	2202	ORPHA:73229	HANAC syndrome	HP:0040281 - Very frequent	193
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of		193
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of		193
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0008046	HP:0007763	Retinal telangiectasia	1	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0007763	Retinal telangiectasia	1	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12		156
HP:0008046	HP:0007763	Retinal telangiectasia	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0008046	HP:0007763	Retinal telangiectasia	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy		88
HP:0008046	HP:0030666	Retinal neovascularization	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent	88
HP:0008046	HP:0007685	Peripheral retinal avascularization	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent	88
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis		51
HP:0008046	HP:0012636	Retinal vein occlusion	1	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare	101
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma		101
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0007763	Retinal telangiectasia	1	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0008046	HP:0007685	Peripheral retinal avascularization	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0008046	HP:0001095	Hypertensive retinopathy	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0008046	HP:0007763	Retinal telangiectasia	1	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0007763	Retinal telangiectasia	1	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0008046	HP:0001095	Hypertensive retinopathy	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0008046	HP:0012636	Retinal vein occlusion	1	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare	54
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma		54
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0008046	HP:0007763	Retinal telangiectasia	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0008046	HP:0001095	Hypertensive retinopathy	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome		158
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent	42
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25		209
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency		28
HP:0008046	HP:0012636	Retinal vein occlusion	1	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040283 - Occasional	28
HP:0008046	HP:0001095	Hypertensive retinopathy	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa		111
HP:0008046	HP:0007763	Retinal telangiectasia	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.	1
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30		26
HP:0008046	HP:0007685	Peripheral retinal avascularization	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.	109
HP:0008046	HP:0030666	Retinal neovascularization	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent	109
HP:0008046	HP:0007685	Peripheral retinal avascularization	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent	109
HP:0008046	HP:0007763	Retinal telangiectasia	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy		109
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity		109
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity		109
HP:0008046	HP:0000660	Lipemia retinalis	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0008046	HP:0007763	Retinal telangiectasia	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	HP:0040281 - Very frequent	129
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1		120
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant		69
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional	19
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0008046	HP:0000660	Lipemia retinalis	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID	HP:0040283 - Occasional	12
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6		124
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I		124
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79		11
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent	4
HP:0008046	HP:0001095	Hypertensive retinopathy	1	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess	.	14
HP:0008046	HP:0001095	Hypertensive retinopathy	1	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040283 - Occasional	14
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46		30
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80		148
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20		48
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71	.	48
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	IGFBP7 CL E G H	3490	5476	OMIM:614224	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis		2
HP:0008046	HP:0007850	Retinal vascular proliferation	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional	52
HP:0008046	HP:0007850	Retinal vascular proliferation	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.	52
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10		52
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56		120
HP:0008046	HP:0025188	Retinal vasculitis	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0008046	HP:0001095	Hypertensive retinopathy	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0008046	HP:0001095	Hypertensive retinopathy	1	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0008046	HP:0007797	Retinal vascular malformation	1	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1	.	92
HP:0008046	HP:0007797	Retinal vascular malformation	1	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation		92
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	70
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0008046	HP:0012636	Retinal vein occlusion	1	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome	.	3
HP:0008046	HP:0000660	Lipemia retinalis	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	62
HP:0008046	HP:0007685	Peripheral retinal avascularization	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.	125
HP:0008046	HP:0007685	Peripheral retinal avascularization	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.	125
HP:0008046	HP:0007763	Retinal telangiectasia	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy		125
HP:0008046	HP:0007685	Peripheral retinal avascularization	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent	125
HP:0008046	HP:0030666	Retinal neovascularization	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent	125
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity		125
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity		125
HP:0008046	HP:0030666	Retinal neovascularization	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62		53
HP:0008046	HP:0001095	Hypertensive retinopathy	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0008046	HP:0001095	Hypertensive retinopathy	1	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0008046	HP:0001095	Hypertensive retinopathy	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0008046	HP:0007685	Peripheral retinal avascularization	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13		127
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0008046	HP:0012636	Retinal vein occlusion	1	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare	47
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma		47
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0008046	HP:0007763	Retinal telangiectasia	1	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0007763	Retinal telangiectasia	1	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0007763	Retinal telangiectasia	1	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0007763	Retinal telangiectasia	1	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0007763	Retinal telangiectasia	1	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0007763	Retinal telangiectasia	1	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0007685	Peripheral retinal avascularization	1	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked	HP:0040283 - Occasional	39
HP:0008046	HP:0030666	Retinal neovascularization	1	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked	HP:0040283 - Occasional	39
HP:0008046	HP:0030666	Retinal neovascularization	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent	39
HP:0008046	HP:0007685	Peripheral retinal avascularization	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent	39
HP:0008046	HP:0007763	Retinal telangiectasia	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity		39
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity		39
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent	65
HP:0008046	HP:0007763	Retinal telangiectasia	1	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent	65
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1		43
HP:0008046	HP:0007850	Retinal vascular proliferation	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0008046	HP:0001095	Hypertensive retinopathy	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9	.	15
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23		201
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54	.
HP:0008046	HP:0007763	Retinal telangiectasia	1	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040282 - Frequent	1
HP:0008046	HP:0007797	Retinal vascular malformation	1	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation		21
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43		116
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40		126
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional	80
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57	.	18
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional	14
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36	.	39
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41		110
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18		28
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7		159
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	159
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	RAX2 CL E G H	84839	18286	OMIM:620102			52
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13		45
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	32
HP:0008046	HP:0001095	Hypertensive retinopathy	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0008046	HP:0001095	Hypertensive retinopathy	1	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.	572
HP:0008046	HP:0001095	Hypertensive retinopathy	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44		28
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4		107
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	107
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent	47
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7		38
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1		111
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88		284
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20	.	129
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	129
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional	200
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6	.	109
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0008046	HP:0007685	Peripheral retinal avascularization	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0008046	HP:0001095	Hypertensive retinopathy	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0008046	HP:0001095	Hypertensive retinopathy	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0008046	HP:0001095	Hypertensive retinopathy	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0008046	HP:0001095	Hypertensive retinopathy	1	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.	237
HP:0008046	HP:0001095	Hypertensive retinopathy	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0008046	HP:0001095	Hypertensive retinopathy	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0008046	HP:0001095	Hypertensive retinopathy	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0008046	HP:0001095	Hypertensive retinopathy	1	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.	129
HP:0008046	HP:0001095	Hypertensive retinopathy	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10		48
HP:0008046	HP:0012636	Retinal vein occlusion	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0008046	HP:0001095	Hypertensive retinopathy	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0008046	HP:0000660	Lipemia retinalis	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.	110
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0008046	HP:0007763	Retinal telangiectasia	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33		83
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent	48
HP:0008046	HP:0007763	Retinal telangiectasia	1	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.	2
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.	32
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0008046	HP:0001095	Hypertensive retinopathy	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0008046	HP:0001095	Hypertensive retinopathy	1	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.	131
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31		61
HP:0008046	HP:0030666	Retinal neovascularization	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional	56
HP:0008046	HP:0007685	Peripheral retinal avascularization	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent	39
HP:0008046	HP:0007763	Retinal telangiectasia	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0008046	HP:0030666	Retinal neovascularization	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent	39
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.	41
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity		1
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14		66
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39	.	777
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0008046	HP:0001095	Hypertensive retinopathy	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0008046	HP:0001095	Hypertensive retinopathy	1	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.	490
HP:0008046	HP:0001095	Hypertensive retinopathy	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0008046	HP:0001095	Hypertensive retinopathy	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional	490
HP:0008046	HP:0000630	Abnormal retinal artery morphology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95
HP:0008046	HP:0012841	Retinal vascular tortuosity	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177
HP:0008046	HP:0007763	Retinal telangiectasia	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy		14
HP:0008046	HP:0030666	Retinal neovascularization	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent	14
HP:0008046	HP:0007685	Peripheral retinal avascularization	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent	14
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72		14
HP:0008046	HP:0007843	Attenuation of retinal blood vessels	1	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.	27
HP:0008046	HP:0020165	Branch retinal vein occlusion	2	CL E G H
HP:0008046	HP:0030494	Macular microaneurysm/hemorrhage	2	CL E G H
HP:0008046	HP:0008030	Retinal arteritis	2	CL E G H
HP:0008046	HP:0020167	Hemiretinal vein occlusion	2	CL E G H
HP:0008046	HP:0008014	Central fundal arteriolar microaneurysms	2	CL E G H
HP:0008046	HP:0020166	Central retinal vein occlusion	2	CL E G H
HP:0008046	HP:0001136	Retinal arteriolar tortuosity	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0008046	HP:0010729	Cherry red spot of the macula	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent	78
HP:0008046	HP:0010729	Cherry red spot of the macula	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.	78
HP:0008046	HP:0000631	Retinal arterial tortuosity	2	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0008046	HP:0001136	Retinal arteriolar tortuosity	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0008046	HP:0001136	Retinal arteriolar tortuosity	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008046	HP:0001136	Retinal arteriolar tortuosity	2	BCL7B CL E G H	9275