Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa			826
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19			826
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa			2
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75			2
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa			175
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa			2
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa			6
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa			3
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa			29
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa			114
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa			97
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa			182
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50			182
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY			182
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa			23
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory			6
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation			37
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2			38
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3			38
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive			6
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa			147
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa			71
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA			47
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3			27
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa			60
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa			44
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa			164
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps			193
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	COL4A1 CL E G H	1282	2202	ORPHA:73229	HANAC syndrome			193
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of			193
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2			10
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa			156
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa			158
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis			51
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma			101
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E			30
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa			47
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy			79
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma			54
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic			42
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy			42
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa			209
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency			28
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa			56
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3			63
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa			26
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30			26
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1			109
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity			109
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa			129
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant			69
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID			12
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa			36
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa			86
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79			11
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy			4
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess			14
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1			32
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa			30
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa			148
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa			48
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71			48
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa			3
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IGFBP7 CL E G H	3490	5476	OMIM:614224	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis			2
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive			7
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect			3
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa			52
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10			52
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa			4
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa			120
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56			120
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA			202
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa			3
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa			42
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1			92
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation			92
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome			3
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa			62
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1			125
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity			125
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa			53
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62			53
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL			55
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome			140
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA			84
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa			75
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MYOC CL E G H	4653	7610	OMIM:137750	Glaucoma 1, open angle, A			47
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma			47
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NDP CL E G H	4693	7678	ORPHA:190	Coats disease			39
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked			39
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease			39
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity			39
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy			65
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa			5
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation			217
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria			217
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria			217
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	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:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa			58
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa			30
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa			201
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation			21
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa			116
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa			126
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40			126
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa			18
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included			11
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type			155
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa			180
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa			39
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36			39
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa			110
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa			28
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18			28
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa			70
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa			2
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa			51
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa			94
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13			94
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa			159
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7			159
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			127
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			50
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RAX2 CL E G H	84839	18286	OMIM:620102				52
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa			108
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13			45
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa			45
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa			5
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA			572
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa			28
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa			107
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4			107
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa			47
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa			38
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7			38
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa			111
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa			284
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa			45
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa			14
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa			129
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20			129
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa			200
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa			32
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SAMD9 CL E G H	54809	1348	OMIM:610455	Tumoral calcinosis, normophosphatemic, familial			8
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary			318
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA			237
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA			129
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10			48
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa			48
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency			88
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa			4
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy			174
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa			83
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33			83
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa			48
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2			2
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I			58
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA			131
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2			12
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa			61
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31			61
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa			41
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51			41
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa			66
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa			777
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39			777
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA			490
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C			86
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa			14
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72			14
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa			27
HP:0008047	HP:0008047	Abnormality of the vasculature of the eye	0	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ABCA4 CL E G H	24	34	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		826
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19			826
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0008047	HP:0025337	Red eye	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	AGBL5 CL E G H	60509	26147	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75			2
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	AHI1 CL E G H	54806	21575	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		175
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	AHR CL E G H	196	348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4			114
HP:0008047	HP:0025337	Red eye	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia			64
HP:0008047	HP:0025337	Red eye	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0008047	HP:0025337	Red eye	1	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ARHGEF18 CL E G H	23370	17090	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		6
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ARL2BP CL E G H	23568	17146	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ARL3 CL E G H	403	694	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ARL6 CL E G H	84100	13210	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		29
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia			10
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA			3267
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	BBS1 CL E G H	582	966	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		114
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	BBS2 CL E G H	583	967	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		97
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	BEST1 CL E G H	7439	12703	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		182
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50			182
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY			182
HP:0008047	HP:0025337	Red eye	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0008047	HP:0025337	Red eye	1	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency			223
HP:0008047	HP:0025337	Red eye	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0008047	HP:0025337	Red eye	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0008047	HP:0025337	Red eye	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0008047	HP:0025337	Red eye	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0008047	HP:0025337	Red eye	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0008047	HP:0025337	Red eye	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CA4 CL E G H	762	1375	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		23
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory			6
HP:0008047	HP:0025337	Red eye	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation			37
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0008047	HP:0025337	Red eye	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0008047	HP:0025337	Red eye	1	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2			38
HP:0008047	HP:0025337	Red eye	1	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3			38
HP:0008047	HP:0025337	Red eye	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0008047	HP:0025337	Red eye	1	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive			6
HP:0008047	HP:0025337	Red eye	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CDHR1 CL E G H	92211	14550	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		147
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CERKL CL E G H	375298	21699	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		71
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CFAP418 CL E G H	157657	27232	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA			47
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CLCNKB CL E G H	1188	2027	OMIM:607364	Bartter syndrome, type 3	.		27
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CLRN1 CL E G H	7401	12605	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		60
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CNGA1 CL E G H	1259	2148	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		44
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia			82
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CNGB1 CL E G H	1258	2151	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		164
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia			194
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0008047	HP:0025337	Red eye	1	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps			193
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	COL4A1 CL E G H	1282	2202	ORPHA:73229	HANAC syndrome			193
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of			193
HP:0008047	HP:0025337	Red eye	1	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			263
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0025337	Red eye	1	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2			10
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CRB1 CL E G H	23418	2343	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		156
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CRX CL E G H	1406	2383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		158
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis			51
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma			101
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum			30
HP:0008047	HP:0025337	Red eye	1	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E			30
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	DHDDS CL E G H	79947	20603	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	DHX38 CL E G H	9785	17211	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0008047	HP:0025337	Red eye	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0008047	HP:0025337	Red eye	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			44
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent		79
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma			54
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			112
HP:0008047	HP:0025337	Red eye	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0008047	HP:0025337	Red eye	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0008047	HP:0025337	Red eye	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0008047	HP:0025337	Red eye	1	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum			106
HP:0008047	HP:0025337	Red eye	1	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0008047	HP:0025337	Red eye	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum			54
HP:0008047	HP:0025337	Red eye	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum			158
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum			83
HP:0008047	HP:0025337	Red eye	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0008047	HP:0025337	Red eye	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0008047	HP:0025337	Red eye	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0008047	HP:0025337	Red eye	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0008047	HP:0025337	Red eye	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0008047	HP:0025337	Red eye	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0008047	HP:0025337	Red eye	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0008047	HP:0025337	Red eye	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.		42
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy			42
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	EYS CL E G H	346007	21555	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		209
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency			28
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	FAM161A CL E G H	84140	25808	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		56
HP:0008047	HP:0025337	Red eye	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0008047	HP:0025337	Red eye	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0008047	HP:0025337	Red eye	1	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa			136
HP:0008047	HP:0025337	Red eye	1	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0008047	HP:0025337	Red eye	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0008047	HP:0025337	Red eye	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome			175
HP:0008047	HP:0025337	Red eye	1	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0008047	HP:0025337	Red eye	1	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			301
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0008047	HP:0007905	Abnormal iris vasculature	1	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3	.	HP:0003621 - Juvenile onset	63
HP:0008047	HP:0025337	Red eye	1	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome			20
HP:0008047	HP:0025337	Red eye	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent		1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	FSCN2 CL E G H	25794	3960	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		26
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30			26
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1			109
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity	HP:0040281 - Very frequent		109
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0008047	HP:0025337	Red eye	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa			129
HP:0008047	HP:0025337	Red eye	1	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0008047	HP:0025337	Red eye	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0008047	HP:0025337	Red eye	1	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome			56
HP:0008047	HP:0025337	Red eye	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant			69
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0008047	HP:0025337	Red eye	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0008047	HP:0025337	Red eye	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0008047	HP:0025337	Red eye	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia			19
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID			12
HP:0008047	HP:0025337	Red eye	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0008047	HP:0025337	Red eye	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0008047	HP:0025337	Red eye	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GUCA1B CL E G H	2979	4679	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		36
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	HGSNAT CL E G H	138050	26527	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		86
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79			11
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040281 - Very frequent		4
HP:0008047	HP:0025337	Red eye	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0008047	HP:0025337	Red eye	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0008047	HP:0025337	Red eye	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0008047	HP:0025337	Red eye	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0008047	HP:0025337	Red eye	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess			14
HP:0008047	HP:0025337	Red eye	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0008047	HP:0025337	Red eye	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1			32
HP:0008047	HP:0025337	Red eye	1	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IDH3A CL E G H	3419	5384	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IDH3B CL E G H	3420	5385	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0008047	HP:0025337	Red eye	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IFT140 CL E G H	9742	29077	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		148
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IFT172 CL E G H	26160	30391	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71			48
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IFT88 CL E G H	8100	20606	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IGFBP7 CL E G H	3490	5476	OMIM:614224	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis			2
HP:0008047	HP:0025337	Red eye	1	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive			7
HP:0008047	HP:0025337	Red eye	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0008047	HP:0025337	Red eye	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0008047	HP:0025337	Red eye	1	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect			3
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti			52
HP:0008047	HP:0025337	Red eye	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0008047	HP:0025337	Red eye	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0008047	HP:0025337	Red eye	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0008047	HP:0025337	Red eye	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0008047	HP:0025337	Red eye	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IMPDH1 CL E G H	3614	6052	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		52
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10			52
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IMPG1 CL E G H	3617	6055	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IMPG2 CL E G H	50939	18362	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		120
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56			120
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0008047	HP:0025337	Red eye	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	KIAA1549 CL E G H	57670	22219	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			202
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA			202
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	KIZ CL E G H	55857	15865	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		3
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	KLHL7 CL E G H	55975	15646	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		42
HP:0008047	HP:0025337	Red eye	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1			92
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation			92
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0008047	HP:0025337	Red eye	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			70
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0008047	HP:0007905	Abnormal iris vasculature	1	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome			3
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome			3
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	LRAT CL E G H	9227	6685	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		62
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			62
HP:0008047	HP:0025337	Red eye	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1			125
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity	HP:0040281 - Very frequent		125
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0008047	HP:0025337	Red eye	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0008047	HP:0025337	Red eye	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	MAK CL E G H	4117	6816	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		53
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62			53
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL			55
HP:0008047	HP:0025337	Red eye	1	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome			140
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			84
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA			84
HP:0008047	HP:0025337	Red eye	1	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome			22
HP:0008047	HP:0025337	Red eye	1	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked			22
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			4
HP:0008047	HP:0025337	Red eye	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	MERTK CL E G H	10461	7027	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		75
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0008047	HP:0025337	Red eye	1	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive			6
HP:0008047	HP:0025337	Red eye	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0008047	HP:0025337	Red eye	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0008047	HP:0025337	Red eye	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional		9
HP:0008047	HP:0007905	Abnormal iris vasculature	1	MYOC CL E G H	4653	7610	OMIM:137750	Glaucoma 1, open angle, A	.		47
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma			47
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NDP CL E G H	4693	7678	ORPHA:190	Coats disease	HP:0040281 - Very frequent		39
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked			39
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent		39
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity	HP:0040281 - Very frequent		39
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy			65
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NEK2 CL E G H	4751	7745	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			1952
HP:0008047	HP:0025337	Red eye	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0008047	HP:0025337	Red eye	1	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation			217
HP:0008047	HP:0025337	Red eye	1	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0008047	HP:0025337	Red eye	1	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria			217
HP:0008047	HP:0025337	Red eye	1	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria			217
HP:0008047	HP:0025337	Red eye	1	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0008047	HP:0025337	Red eye	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9			15
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	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:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional		187
HP:0008047	HP:0025337	Red eye	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NR2E3 CL E G H	10002	7974	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		58
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	NRL CL E G H	4901	8002	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		30
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	OFD1 CL E G H	8481	2567	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		201
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0008047	HP:0025337	Red eye	1	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PCARE CL E G H	388939	34383	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation			21
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PDE6A CL E G H	5145	8785	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		116
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PDE6B CL E G H	5158	8786	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		126
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40			126
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia			80
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PDE6G CL E G H	5148	8789	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		18
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57			18
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia			14
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome			98
HP:0008047	HP:0025337	Red eye	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0008047	HP:0025337	Red eye	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included			11
HP:0008047	HP:0025337	Red eye	1	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type			155
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	POMGNT1 CL E G H	55624	19139	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		180
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PRCD CL E G H	768206	32528	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		39
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36			39
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PROM1 CL E G H	8842	9454	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		110
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PRPF3 CL E G H	9129	17348	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18			28
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PRPF31 CL E G H	26121	15446	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		70
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PRPF4 CL E G H	9128	17349	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		2
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PRPF6 CL E G H	24148	15860	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		51
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PRPF8 CL E G H	10594	17340	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		94
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13			94
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PRPH2 CL E G H	5961	9942	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		159
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7			159
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens			159
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0008047	HP:0025337	Red eye	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0008047	HP:0025337	Red eye	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0008047	HP:0025337	Red eye	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0008047	HP:0025337	Red eye	1	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			127
HP:0008047	HP:0025337	Red eye	1	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive			50
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RAX2 CL E G H	84839	18286	OMIM:620102				52
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RBP3 CL E G H	5949	9921	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		108
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13			45
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RDH12 CL E G H	145226	19977	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens			32
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	REEP6 CL E G H	92840	30078	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		5
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			572
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA			572
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			572
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RGR CL E G H	5995	9990	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		28
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RHO CL E G H	6010	10012	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		107
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4			107
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens			107
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RLBP1 CL E G H	6017	10024	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		47
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens			47
HP:0008047	HP:0025337	Red eye	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0008047	HP:0025337	Red eye	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome			7
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ROM1 CL E G H	6094	10254	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		38
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7			38
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RP1 CL E G H	6101	10263	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		111
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RP1L1 CL E G H	94137	15946	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		284
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RP2 CL E G H	6102	10274	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		45
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RP9 CL E G H	6100	10288	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RPE65 CL E G H	6121	10294	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20			129
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			129
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia			200
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RPGR CL E G H	6103	10295	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		200
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6			109
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency			113
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SAG CL E G H	6295	10521	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		32
HP:0008047	HP:0025337	Red eye	1	SAMD9 CL E G H	54809	1348	OMIM:610455	Tumoral calcinosis, normophosphatemic, familial			8
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SCAPER CL E G H	49855	13081	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent
HP:0008047	HP:0025337	Red eye	1	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary			318
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			304
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			55
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			237
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA			237
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			237
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			147
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			129
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA			129
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			129
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10			48
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SEMA4A CL E G H	64218	10729	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency			88
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1			162
HP:0008047	HP:0025337	Red eye	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0008047	HP:0025337	Red eye	1	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica			55
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SLC7A14 CL E G H	57709	29326	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		4
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040282 - Frequent		174
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SNRNP200 CL E G H	23020	30859	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		83
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33			83
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SPATA7 CL E G H	55812	20423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		48
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy			48
HP:0008047	HP:0025337	Red eye	1	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0008047	HP:0025337	Red eye	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0008047	HP:0025337	Red eye	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2			2
HP:0008047	HP:0025337	Red eye	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0008047	HP:0025337	Red eye	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0008047	HP:0025337	Red eye	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0008047	HP:0025337	Red eye	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0008047	HP:0025337	Red eye	1	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46			1
HP:0008047	HP:0025337	Red eye	1	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040282 - Frequent		58
HP:0008047	HP:0025337	Red eye	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0008047	HP:0025337	Red eye	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			131
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA			131
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0008047	HP:0025337	Red eye	1	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0008047	HP:0025337	Red eye	1	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2			12
HP:0008047	HP:0025337	Red eye	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0008047	HP:0025337	Red eye	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TOPORS CL E G H	10210	21653	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		61
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31			61
HP:0008047	HP:0025337	Red eye	1	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome			140
HP:0008047	HP:0025337	Red eye	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0008047	HP:0025337	Red eye	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040281 - Very frequent		56
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TTC8 CL E G H	123016	20087	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		41
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51			41
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TUB CL E G H	7275	12406	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TULP1 CL E G H	7287	12423	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		66
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0008047	HP:0025337	Red eye	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0008047	HP:0025337	Red eye	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0008047	HP:0025337	Red eye	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0008047	HP:0025337	Red eye	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0008047	HP:0025337	Red eye	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	USH2A CL E G H	7399	12601	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		777
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39			777
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma			490
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA			490
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma			490
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0008047	HP:0025337	Red eye	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0008047	HP:0025337	Red eye	1	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome			65
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0008047	HP:0025337	Red eye	1	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome			6
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum			34
HP:0008047	HP:0025337	Red eye	1	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A			34
HP:0008047	HP:0008054	Abnormal morphology of the conjunctival vasculature	1	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum			86
HP:0008047	HP:0025337	Red eye	1	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C			86
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ZNF408 CL E G H	79797	20041	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		14
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72			14
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ZNF513 CL E G H	130557	26498	ORPHA:791	Retinitis pigmentosa	HP:0040281 - Very frequent		27
HP:0008047	HP:0008046	Abnormal retinal vascular morphology	1	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58			27
HP:0008047	HP:0025339	Superficial episcleral hyperemia	2	CL E G H
HP:0008047	HP:0007815	Abnormal distribution of retinal arterioles and venules	2	CL E G H
HP:0008047	HP:0025319	Rubeosis iridis	2	CL E G H
HP:0008047	HP:0007721	Saccular conjunctival dilatations	2	CL E G H
HP:0008047	HP:0032416	Retinal microaneurysm	2	CL E G H
HP:0008047	HP:0011497	Iris neovascularization	2	CL E G H
HP:0008047	HP:0025340	Deep episcleral hyperemia	2	CL E G H
HP:0008047	HP:0007986	Increased retinal vascularity	2	CL E G H
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	ABCA4 CL E G H	24	34	OMIM:604116	CONE-ROD DYSTROPHY 3; CORD3			826
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	ABCA4 CL E G H	24	34	OMIM:601718	Retinitis pigmentosa 19	.		826
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0008047	HP:0007763	Retinal telangiectasia	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		178
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		178
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.		178
HP:0008047	HP:0000509	Conjunctivitis	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	AGBL5 CL E G H	60509	26147	OMIM:617023	Retinitis pigmentosa 75			2
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	AIPL1 CL E G H	23746	359	OMIM:604393	Leber congenital amaurosis 4	.		114
HP:0008047	HP:0000509	Conjunctivitis	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0008047	HP:0000503	Tortuosity of conjunctival vessels	2	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040283 - Occasional		64
HP:0008047	HP:0000509	Conjunctivitis	2	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0008047	HP:0030953	Conjunctival hyperemia	2	AP1G1 CL E G H	164	555	OMIM:619548	USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0008047	HP:0000660	Lipemia retinalis	2	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83			1
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	ATF6 CL E G H	22926	791	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional		10
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	ATM CL E G H	472	795	OMIM:208900	ATAXIA-TELANGIECTASIA	.		3267
HP:0008047	HP:0007763	Retinal telangiectasia	2	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	BBS9 CL E G H	27241	30000	OMIM:615986	BARDET-BIEDL SYNDROME 9; BBS9			119
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	BEST1 CL E G H	7439	12703	OMIM:613194	Retinitis pigmentosa-50			182
HP:0008047	HP:0030666	Retinal neovascularization	2	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.		182
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY			182
HP:0008047	HP:0000509	Conjunctivitis	2	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		4
HP:0008047	HP:0000509	Conjunctivitis	2	BTD CL E G H	686	1122	ORPHA:79241	Biotinidase deficiency	HP:0040283 - Occasional		223
HP:0008047	HP:0000509	Conjunctivitis	2	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0008047	HP:0000509	Conjunctivitis	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.		109
HP:0008047	HP:0000509	Conjunctivitis	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0008047	HP:0000509	Conjunctivitis	2	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040281 - Very frequent		109
HP:0008047	HP:0000509	Conjunctivitis	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0008047	HP:0000509	Conjunctivitis	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0008047	HP:0030666	Retinal neovascularization	2	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory			6
HP:0008047	HP:0000509	Conjunctivitis	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0008047	HP:0007797	Retinal vascular malformation	2	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation			37
HP:0008047	HP:0001095	Hypertensive retinopathy	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0008047	HP:0000509	Conjunctivitis	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0008047	HP:0000509	Conjunctivitis	2	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2	.		38
HP:0008047	HP:0000509	Conjunctivitis	2	CD19 CL E G H	930	1633	OMIM:613493	IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3			38
HP:0008047	HP:0000509	Conjunctivitis	2	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		9
HP:0008047	HP:0000509	Conjunctivitis	2	CD79B CL E G H	974	1699	OMIM:612692	Agammaglobulinemia 6, autosomal recessive	.		6
HP:0008047	HP:0000509	Conjunctivitis	2	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		6
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	CDHR1 CL E G H	92211	14550	OMIM:613660	CONE-ROD DYSTROPHY 15; CORD15			147
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.		27
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	CERKL CL E G H	375298	21699	OMIM:608380	Retinitis pigmentosa 26			71
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	CFAP418 CL E G H	157657	27232	OMIM:614500	Cone-Rod dystrophy 16
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	CHM CL E G H	1121	1940	OMIM:303100	CHOROIDEREMIA			47
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	CLCC1 CL E G H	23155	29675	OMIM:609913	RETINITIS PIGMENTOSA 32; RP32
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	CLRN1 CL E G H	7401	12605	OMIM:614180	Retinitis pigmentosa 61			60
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	CNGA1 CL E G H	1259	2148	OMIM:613756	RETINITIS PIGMENTOSA 49; RP49			44
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	CNGA3 CL E G H	1261	2150	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional		82
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	CNGB3 CL E G H	54714	2153	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional		194
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	CNNM4 CL E G H	26504	105	OMIM:217080	Jalili syndrome			61
HP:0008047	HP:0000509	Conjunctivitis	2	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1			177
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps			193
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps			193
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	COL4A1 CL E G H	1282	2202	ORPHA:73229	HANAC syndrome	HP:0040281 - Very frequent		193
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of			193
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of			193
HP:0008047	HP:0000509	Conjunctivitis	2	COL7A1 CL E G H	1294	2214	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		263
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0007763	Retinal telangiectasia	2	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0007763	Retinal telangiectasia	2	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0000509	Conjunctivitis	2	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2	.		10
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	CRB1 CL E G H	23418	2343	OMIM:600105	Retinitis pigmentosa 12			156
HP:0008047	HP:0007763	Retinal telangiectasia	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0008047	HP:0007685	Peripheral retinal avascularization	2	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent		88
HP:0008047	HP:0030666	Retinal neovascularization	2	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		88
HP:0008047	HP:0007763	Retinal telangiectasia	2	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis	.		51
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis			51
HP:0008047	HP:0012636	Retinal vein occlusion	2	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare		101
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma			101
HP:0008047	HP:0007763	Retinal telangiectasia	2	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		30
HP:0008047	HP:0000509	Conjunctivitis	2	DDB2 CL E G H	1643	2718	OMIM:278740	Xeroderma pigmentosum, complementation group E	.		30
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome	.
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome	.
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome	.
HP:0008047	HP:0000509	Conjunctivitis	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0008047	HP:0007685	Peripheral retinal avascularization	2	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:0008047	HP:0001095	Hypertensive retinopathy	2	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0008047	HP:0007763	Retinal telangiectasia	2	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0008047	HP:0007763	Retinal telangiectasia	2	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0008047	HP:0000509	Conjunctivitis	2	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040282 - Frequent		3
HP:0008047	HP:0001095	Hypertensive retinopathy	2	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		44
HP:0008047	HP:0012636	Retinal vein occlusion	2	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare		54
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma			54
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		186
HP:0008047	HP:0007763	Retinal telangiectasia	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		186
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.		186
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0008047	HP:0001095	Hypertensive retinopathy	2	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		112
HP:0008047	HP:0000509	Conjunctivitis	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0008047	HP:0000509	Conjunctivitis	2	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0008047	HP:0000509	Conjunctivitis	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0008047	HP:0000509	Conjunctivitis	2	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		106
HP:0008047	HP:0000509	Conjunctivitis	2	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	.		106
HP:0008047	HP:0000509	Conjunctivitis	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		54
HP:0008047	HP:0000509	Conjunctivitis	2	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		158
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		158
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome			158
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		83
HP:0008047	HP:0000509	Conjunctivitis	2	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		199
HP:0008047	HP:0000509	Conjunctivitis	2	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0008047	HP:0000509	Conjunctivitis	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0008047	HP:0000509	Conjunctivitis	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.		199
HP:0008047	HP:0000509	Conjunctivitis	2	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		55
HP:0008047	HP:0000509	Conjunctivitis	2	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0008047	HP:0000509	Conjunctivitis	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0008047	HP:0000509	Conjunctivitis	2	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent		12
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome	.
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ETHE1 CL E G H	23474	23287	ORPHA:51188	Ethylmalonic encephalopathy	HP:0040282 - Frequent		42
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	EYS CL E G H	346007	21555	OMIM:602772	Retinitis pigmentosa 25			209
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency			28
HP:0008047	HP:0012636	Retinal vein occlusion	2	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040283 - Occasional		28
HP:0008047	HP:0000509	Conjunctivitis	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0008047	HP:0000509	Conjunctivitis	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0008047	HP:0000509	Conjunctivitis	2	FERMT1 CL E G H	55612	15889	ORPHA:2908	Kindler epidermolysis bullosa	HP:0040283 - Occasional		136
HP:0008047	HP:0000509	Conjunctivitis	2	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome			17
HP:0008047	HP:0000509	Conjunctivitis	2	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent		175
HP:0008047	HP:0000509	Conjunctivitis	2	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.		175
HP:0008047	HP:0000509	Conjunctivitis	2	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome			175
HP:0008047	HP:0000509	Conjunctivitis	2	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome			145
HP:0008047	HP:0001095	Hypertensive retinopathy	2	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		301
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	FLVCR1 CL E G H	28982	24682	OMIM:609033	Ataxia, posterior column, with retinitis pigmentosa			111
HP:0008047	HP:0000509	Conjunctivitis	2	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.		20
HP:0008047	HP:0000509	Conjunctivitis	2	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040281 - Very frequent		20
HP:0008047	HP:0007763	Retinal telangiectasia	2	FRG1 CL E G H	2483	3954	OMIM:158900	Facioscapulohumeral muscular dystrophy 1	.		1
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	FSCN2 CL E G H	25794	3960	OMIM:607921	RETINITIS PIGMENTOSA 30; RP30			26
HP:0008047	HP:0000503	Tortuosity of conjunctival vessels	2	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.		43
HP:0008047	HP:0007685	Peripheral retinal avascularization	2	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.		109
HP:0008047	HP:0007763	Retinal telangiectasia	2	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0008047	HP:0030666	Retinal neovascularization	2	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		109
HP:0008047	HP:0007685	Peripheral retinal avascularization	2	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent		109
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity			109
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity			109
HP:0008047	HP:0000660	Lipemia retinalis	2	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0008047	HP:0000509	Conjunctivitis	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0008047	HP:0007763	Retinal telangiectasia	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		8
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		8
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	GGCX CL E G H	2677	4247	ORPHA:436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	HP:0040281 - Very frequent		129
HP:0008047	HP:0000509	Conjunctivitis	2	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0008047	HP:0000509	Conjunctivitis	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0008047	HP:0000509	Conjunctivitis	2	GJB6 CL E G H	10804	4288	OMIM:129500	Clouston syndrome	.		56
HP:0008047	HP:0000509	Conjunctivitis	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent		291
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant			69
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0008047	HP:0000509	Conjunctivitis	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0008047	HP:0000509	Conjunctivitis	2	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		101
HP:0008047	HP:0000509	Conjunctivitis	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional		101
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	GNAT2 CL E G H	2780	4394	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional		19
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0008047	HP:0000660	Lipemia retinalis	2	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID	HP:0040283 - Occasional		12
HP:0008047	HP:0000509	Conjunctivitis	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0008047	HP:0000509	Conjunctivitis	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0008047	HP:0000509	Conjunctivitis	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	GUCY2D CL E G H	3000	4689	OMIM:601777	Cone-Rod dystrophy 6			124
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	HK1 CL E G H	3098	4922	OMIM:617460	Retinitis pigmentosa 79			11
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent		4
HP:0008047	HP:0000509	Conjunctivitis	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0008047	HP:0000509	Conjunctivitis	2	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040281 - Very frequent		4
HP:0008047	HP:0000509	Conjunctivitis	2	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		4
HP:0008047	HP:0000509	Conjunctivitis	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0008047	HP:0000509	Conjunctivitis	2	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0008047	HP:0001095	Hypertensive retinopathy	2	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040283 - Occasional		14
HP:0008047	HP:0001095	Hypertensive retinopathy	2	HSD11B2 CL E G H	3291	5209	OMIM:218030	Apparent mineralocorticoid excess	.		14
HP:0008047	HP:0000509	Conjunctivitis	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0008047	HP:0000509	Conjunctivitis	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.		32
HP:0008047	HP:0000509	Conjunctivitis	2	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2	.		32
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	IDH3A CL E G H	3419	5384	OMIM:619007	RETINITIS PIGMENTOSA 90; RP90
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	IDH3B CL E G H	3420	5385	OMIM:612572	RETINITIS PIGMENTOSA 46; RP46			30
HP:0008047	HP:0000509	Conjunctivitis	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	IFT140 CL E G H	9742	29077	OMIM:617781	Retinitis pigmentosa 80			148
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	IFT172 CL E G H	26160	30391	OMIM:616394	Retinitis pigmentosa 71	.		48
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	IGFBP7 CL E G H	3490	5476	OMIM:614224	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis			2
HP:0008047	HP:0000509	Conjunctivitis	2	IGHM CL E G H	3507	5541	OMIM:601495	Agammaglobulinemia 1, autosomal recessive	.		7
HP:0008047	HP:0000509	Conjunctivitis	2	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		7
HP:0008047	HP:0000509	Conjunctivitis	2	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		3
HP:0008047	HP:0000509	Conjunctivitis	2	IGSF3 CL E G H	3321	5950	OMIM:149700	Lacrimal duct defect	HP:0040283 - Occasional		3
HP:0008047	HP:0007850	Retinal vascular proliferation	2	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040283 - Occasional		52
HP:0008047	HP:0007850	Retinal vascular proliferation	2	IKBKG CL E G H	8517	5961	OMIM:308300	Incontinentia pigmenti	.		52
HP:0008047	HP:0000509	Conjunctivitis	2	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		8
HP:0008047	HP:0000509	Conjunctivitis	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0008047	HP:0000509	Conjunctivitis	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0008047	HP:0000509	Conjunctivitis	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0008047	HP:0000509	Conjunctivitis	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	IMPDH1 CL E G H	3614	6052	OMIM:180105	Retinitis pigmentosa 10			52
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	IMPG2 CL E G H	50939	18362	OMIM:613581	RETINITIS PIGMENTOSA 56; RP56			120
HP:0008047	HP:0025188	Retinal vasculitis	2	IVNS1ABP CL E G H	10625	16951	OMIM:618969	IMMUNODEFICIENCY 70; IMD70
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0008047	HP:0000509	Conjunctivitis	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	KIAA1549 CL E G H	57670	22219	OMIM:618613	RETINITIS PIGMENTOSA 86; RP86
HP:0008047	HP:0001095	Hypertensive retinopathy	2	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		202
HP:0008047	HP:0001095	Hypertensive retinopathy	2	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.		202
HP:0008047	HP:0000509	Conjunctivitis	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0008047	HP:0007797	Retinal vascular malformation	2	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1	.		92
HP:0008047	HP:0007797	Retinal vascular malformation	2	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation			92
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0008047	HP:0000509	Conjunctivitis	2	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		70
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	LIG1 CL E G H	3978	6598	OMIM:619774	IMMUNODEFICIENCY 96; IMD96			9
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0008047	HP:0012635	Iris hypoperfusion	2	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome	.		3
HP:0008047	HP:0012636	Retinal vein occlusion	2	LOXL1 CL E G H	4016	6665	OMIM:177650	Exfoliation syndrome	.		3
HP:0008047	HP:0000660	Lipemia retinalis	2	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.		106
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		62
HP:0008047	HP:0000509	Conjunctivitis	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0008047	HP:0007685	Peripheral retinal avascularization	2	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.		125
HP:0008047	HP:0007685	Peripheral retinal avascularization	2	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.		125
HP:0008047	HP:0007763	Retinal telangiectasia	2	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0008047	HP:0030666	Retinal neovascularization	2	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		125
HP:0008047	HP:0007685	Peripheral retinal avascularization	2	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent		125
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity			125
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity			125
HP:0008047	HP:0030666	Retinal neovascularization	2	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0008047	HP:0000509	Conjunctivitis	2	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		3
HP:0008047	HP:0000509	Conjunctivitis	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	MAK CL E G H	4117	6816	OMIM:614181	Retinitis pigmentosa 62			53
HP:0008047	HP:0000503	Tortuosity of conjunctival vessels	2	MANBA CL E G H	4126	6831	OMIM:248510	MANNOSIDOSIS, BETA A, LYSOSOMAL	.		55
HP:0008047	HP:0030953	Conjunctival hyperemia	2	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent		140
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0008047	HP:0001095	Hypertensive retinopathy	2	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		84
HP:0008047	HP:0001095	Hypertensive retinopathy	2	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.		84
HP:0008047	HP:0000509	Conjunctivitis	2	MBTPS2 CL E G H	51360	15455	ORPHA:2273	Ichthyosis follicularis-alopecia-photophobia syndrome	HP:0040283 - Occasional		22
HP:0008047	HP:0000509	Conjunctivitis	2	MBTPS2 CL E G H	51360	15455	OMIM:308800	Keratosis follicularis spinulosa decalvans, X-linked	.		22
HP:0008047	HP:0001095	Hypertensive retinopathy	2	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		4
HP:0008047	HP:0000509	Conjunctivitis	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0008047	HP:0007685	Peripheral retinal avascularization	2	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:0008047	HP:0012841	Retinal vascular tortuosity	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	MKS1 CL E G H	54903	7121	OMIM:615990	BARDET-BIEDL SYNDROME 13; BBS13			127
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0008047	HP:0000509	Conjunctivitis	2	MMP1 CL E G H	4312	7155	OMIM:226600	Epidermolysis bullosa dystrophica, autosomal recessive	.		6
HP:0008047	HP:0000509	Conjunctivitis	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0008047	HP:0000509	Conjunctivitis	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0008047	HP:0000509	Conjunctivitis	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0008047	HP:0012636	Retinal vein occlusion	2	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare		47
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma			47
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0007763	Retinal telangiectasia	2	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0007763	Retinal telangiectasia	2	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0007763	Retinal telangiectasia	2	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0007763	Retinal telangiectasia	2	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0007763	Retinal telangiectasia	2	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0007763	Retinal telangiectasia	2	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked	HP:0040283 - Occasional		39
HP:0008047	HP:0007685	Peripheral retinal avascularization	2	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked			39
HP:0008047	HP:0030666	Retinal neovascularization	2	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked	HP:0040283 - Occasional		39
HP:0008047	HP:0007763	Retinal telangiectasia	2	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0008047	HP:0007685	Peripheral retinal avascularization	2	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent		39
HP:0008047	HP:0030666	Retinal neovascularization	2	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		39
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity			39
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity			39
HP:0008047	HP:0007763	Retinal telangiectasia	2	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent		65
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040282 - Frequent		65
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0008047	HP:0007850	Retinal vascular proliferation	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0008047	HP:0001095	Hypertensive retinopathy	2	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		1952
HP:0008047	HP:0000509	Conjunctivitis	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0008047	HP:0000509	Conjunctivitis	2	NLRP3 CL E G H	114548	16400	OMIM:617772	Deafness, autosomal dominant 34, with or without inflammation	.		217
HP:0008047	HP:0000509	Conjunctivitis	2	NLRP3 CL E G H	114548	16400	OMIM:120100	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1			217
HP:0008047	HP:0000509	Conjunctivitis	2	NLRP3 CL E G H	114548	16400	ORPHA:47045	Familial cold urticaria	HP:0040283 - Occasional		217
HP:0008047	HP:0030953	Conjunctival hyperemia	2	NLRP3 CL E G H	114548	16400	OMIM:148200	Keratoendotheliitis fugax hereditaria	.		217
HP:0008047	HP:0030953	Conjunctival hyperemia	2	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0008047	HP:0000509	Conjunctivitis	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent		217
HP:0008047	HP:0000509	Conjunctivitis	2	NLRP3 CL E G H	114548	16400	OMIM:191900	Muckle-Wells syndrome			217
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9	.		15
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA			15
HP:0008047	HP:0000509	Conjunctivitis	2	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	OFD1 CL E G H	8481	2567	OMIM:300424	Retinitis pigmentosa 23			201
HP:0008047	HP:0000509	Conjunctivitis	2	PAX1 CL E G H	5075	8615	OMIM:615560	Otofaciocervical syndrome 2			3
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia			194
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	PCARE CL E G H	388939	34383	OMIM:613428	Retinitis pigmentosa 54	.
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	PCNA CL E G H	5111	8729	OMIM:615919	Ataxia-Telangiectasia-Like disorder 2	.		1
HP:0008047	HP:0007763	Retinal telangiectasia	2	PCNA CL E G H	5111	8729	ORPHA:438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	HP:0040282 - Frequent		1
HP:0008047	HP:0007797	Retinal vascular malformation	2	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation			21
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	PDE6A CL E G H	5145	8785	OMIM:613810	RETINITIS PIGMENTOSA 43; RP43			116
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	PDE6B CL E G H	5158	8786	OMIM:613801	Retinitis pigmentosa 40			126
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	PDE6C CL E G H	5146	8787	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional		80
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	PDE6G CL E G H	5148	8789	OMIM:613582	Retinitis pigmentosa 57	.		18
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	PDE6H CL E G H	5149	8790	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional		14
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	PEX6 CL E G H	5190	8859	ORPHA:95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	HP:0040282 - Frequent		98
HP:0008047	HP:0000509	Conjunctivitis	2	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		43
HP:0008047	HP:0000509	Conjunctivitis	2	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.		11
HP:0008047	HP:0000509	Conjunctivitis	2	POLH CL E G H	5429	9181	OMIM:278750	Xeroderma pigmentosum, Variant type	.		155
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	PRCD CL E G H	768206	32528	OMIM:610599	Retinitis pigmentosa 36	.		39
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	PROM1 CL E G H	8842	9454	OMIM:612095	RETINITIS PIGMENTOSA 41; RP41			110
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18			28
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13			94
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	PRPH2 CL E G H	5961	9942	OMIM:608133	Retinitis pigmentosa 7			159
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	PRPH2 CL E G H	5961	9942	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		159
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0008047	HP:0000509	Conjunctivitis	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0008047	HP:0000509	Conjunctivitis	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0008047	HP:0000509	Conjunctivitis	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0008047	HP:0000509	Conjunctivitis	2	RAG1 CL E G H	5896	9831	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.		127
HP:0008047	HP:0000509	Conjunctivitis	2	RAG2 CL E G H	5897	9832	OMIM:601457	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	.		50
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	RAX2 CL E G H	84839	18286	OMIM:620102				52
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	RDH12 CL E G H	145226	19977	OMIM:612712	Leber congenital amaurosis 13			45
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	RDH5 CL E G H	5959	9940	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		32
HP:0008047	HP:0001095	Hypertensive retinopathy	2	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		572
HP:0008047	HP:0001095	Hypertensive retinopathy	2	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.		572
HP:0008047	HP:0001095	Hypertensive retinopathy	2	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		572
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	RGR CL E G H	5995	9990	OMIM:613769	RETINITIS PIGMENTOSA 44; RP44			28
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	RHO CL E G H	6010	10012	OMIM:613731	Retinitis pigmentosa 4			107
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	RHO CL E G H	6010	10012	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		107
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	RLBP1 CL E G H	6017	10024	ORPHA:52427	Retinitis punctata albescens	HP:0040282 - Frequent		47
HP:0008047	HP:0000509	Conjunctivitis	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0008047	HP:0000509	Conjunctivitis	2	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	RNF168 CL E G H	165918	26661	ORPHA:420741	RIDDLE syndrome	HP:0040283 - Occasional		7
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	ROM1 CL E G H	6094	10254	OMIM:608133	Retinitis pigmentosa 7			38
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	RP1 CL E G H	6101	10263	OMIM:180100	Retinitis pigmentosa 1			111
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	RP1L1 CL E G H	94137	15946	OMIM:618826	RETINITIS PIGMENTOSA 88; RP88			284
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II			129
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	RPE65 CL E G H	6121	10294	OMIM:613794	Retinitis pigmentosa 20	.		129
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		129
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	RPGR CL E G H	6103	10295	ORPHA:49382	Achromatopsia	HP:0040283 - Occasional		200
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	RPGRIP1 CL E G H	57096	13436	OMIM:613826	Leber congenital amaurosis 6	.		109
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0008047	HP:0007685	Peripheral retinal avascularization	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional		113
HP:0008047	HP:0000509	Conjunctivitis	2	SAMD9 CL E G H	54809	1348	OMIM:610455	Tumoral calcinosis, normophosphatemic, familial	.		8
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	SCAPER CL E G H	49855	13081	OMIM:618195	Intellectual developmental disorder and retinitis pigmentosa
HP:0008047	HP:0000509	Conjunctivitis	2	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary			318
HP:0008047	HP:0001095	Hypertensive retinopathy	2	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		304
HP:0008047	HP:0001095	Hypertensive retinopathy	2	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		55
HP:0008047	HP:0001095	Hypertensive retinopathy	2	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		237
HP:0008047	HP:0001095	Hypertensive retinopathy	2	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.		237
HP:0008047	HP:0001095	Hypertensive retinopathy	2	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		237
HP:0008047	HP:0001095	Hypertensive retinopathy	2	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		147
HP:0008047	HP:0001095	Hypertensive retinopathy	2	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		129
HP:0008047	HP:0001095	Hypertensive retinopathy	2	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.		129
HP:0008047	HP:0001095	Hypertensive retinopathy	2	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		129
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	SELENOI CL E G H	85465	29361	OMIM:618768	SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	SEMA4A CL E G H	64218	10729	OMIM:610283	Cone-Rod dystrophy 10			48
HP:0008047	HP:0012636	Retinal vein occlusion	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional		88
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	HP:0040283 - Occasional		162
HP:0008047	HP:0030953	Conjunctival hyperemia	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0008047	HP:0001095	Hypertensive retinopathy	2	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0008047	HP:0000660	Lipemia retinalis	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.		110
HP:0008047	HP:0000509	Conjunctivitis	2	SLC39A4 CL E G H	55630	17129	ORPHA:37	Acrodermatitis enteropathica	HP:0040282 - Frequent		55
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0008047	HP:0007763	Retinal telangiectasia	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		504
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		504
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	SNRNP200 CL E G H	23020	30859	OMIM:610359	Retinitis pigmentosa 33			83
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040282 - Frequent		48
HP:0008047	HP:0000509	Conjunctivitis	2	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0008047	HP:0000509	Conjunctivitis	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0008047	HP:0000509	Conjunctivitis	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0008047	HP:0007763	Retinal telangiectasia	2	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.		2
HP:0008047	HP:0000509	Conjunctivitis	2	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0008047	HP:0000509	Conjunctivitis	2	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		86
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0008047	HP:0000509	Conjunctivitis	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome	.		32
HP:0008047	HP:0000509	Conjunctivitis	2	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040281 - Very frequent		2
HP:0008047	HP:0000509	Conjunctivitis	2	TFRC CL E G H	7037	11763	OMIM:616740	Immunodeficiency 46			1
HP:0008047	HP:0000509	Conjunctivitis	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional		4
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	TLCD3B CL E G H	83723	25295	OMIM:619531	CONE-ROD DYSTROPHY 22; CORD22
HP:0008047	HP:0000509	Conjunctivitis	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0008047	HP:0001095	Hypertensive retinopathy	2	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		131
HP:0008047	HP:0001095	Hypertensive retinopathy	2	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.		131
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3			33
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0008047	HP:0000509	Conjunctivitis	2	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2	.		32
HP:0008047	HP:0000509	Conjunctivitis	2	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2	.		12
HP:0008047	HP:0000509	Conjunctivitis	2	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0008047	HP:0030953	Conjunctival hyperemia	2	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0008047	HP:0000509	Conjunctivitis	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional		131
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	TOPORS CL E G H	10210	21653	OMIM:609923	Retinitis pigmentosa 31			61
HP:0008047	HP:0000509	Conjunctivitis	2	TP63 CL E G H	8626	15979	OMIM:103285	Adult syndrome	.		140
HP:0008047	HP:0000509	Conjunctivitis	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.		140
HP:0008047	HP:0000509	Conjunctivitis	2	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome			140
HP:0008047	HP:0030666	Retinal neovascularization	2	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional		56
HP:0008047	HP:0007763	Retinal telangiectasia	2	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0008047	HP:0030666	Retinal neovascularization	2	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		39
HP:0008047	HP:0007685	Peripheral retinal avascularization	2	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent		39
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	TTC8 CL E G H	123016	20087	OMIM:613464	Retinitis pigmentosa 51	.		41
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	TUB CL E G H	7275	12406	OMIM:616188	Retinal dystrophy and obesity			1
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0008047	HP:0000509	Conjunctivitis	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0008047	HP:0000509	Conjunctivitis	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0008047	HP:0000509	Conjunctivitis	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0008047	HP:0000509	Conjunctivitis	2	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0008047	HP:0000509	Conjunctivitis	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia	.		8
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	USH2A CL E G H	7399	12601	OMIM:613809	Retinitis pigmentosa 39	.		777
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	USP45 CL E G H	85015	20080	OMIM:618513	LEBER CONGENITAL AMAUROSIS 19; LCA19
HP:0008047	HP:0001095	Hypertensive retinopathy	2	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent		490
HP:0008047	HP:0001095	Hypertensive retinopathy	2	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.		490
HP:0008047	HP:0001095	Hypertensive retinopathy	2	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent		490
HP:0008047	HP:0001095	Hypertensive retinopathy	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0008047	HP:0000509	Conjunctivitis	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional		1
HP:0008047	HP:0000630	Abnormal retinal artery morphology	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0008047	HP:0000509	Conjunctivitis	2	WAS CL E G H	7454	12731	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional		65
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0008047	HP:0000509	Conjunctivitis	2	WIPF1 CL E G H	7456	12736	ORPHA:906	Wiskott-Aldrich syndrome	HP:0040283 - Occasional		6
HP:0008047	HP:0012841	Retinal vascular tortuosity	2	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia			177
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		34
HP:0008047	HP:0000509	Conjunctivitis	2	XPA CL E G H	7507	12814	OMIM:278700	Xeroderma pigmentosum, complementation group A	.		34
HP:0008047	HP:0000524	Conjunctival telangiectasia	2	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040281 - Very frequent		86
HP:0008047	HP:0000509	Conjunctivitis	2	XPC CL E G H	7508	12816	OMIM:278720	Xeroderma pigmentosum, complementation group C	.		86
HP:0008047	HP:0007685	Peripheral retinal avascularization	2	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent		14
HP:0008047	HP:0007763	Retinal telangiectasia	2	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0008047	HP:0030666	Retinal neovascularization	2	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040282 - Frequent		14
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	ZNF408 CL E G H	79797	20041	OMIM:616469	Retinitis pigmentosa 72			14
HP:0008047	HP:0007843	Attenuation of retinal blood vessels	2	ZNF513 CL E G H	130557	26498	OMIM:613617	Retinitis pigmentosa 58	.		27
HP:0008047	HP:0007879	Allergic conjunctivitis	3	CL E G H
HP:0008047	HP:0025338	Circumlimbal hyperemia	3	CL E G H
HP:0008047	HP:0020167	Hemiretinal vein occlusion	3	CL E G H
HP:0008047	HP:0030494	Macular microaneurysm/hemorrhage	3	CL E G H
HP:0008047	HP:0008030	Retinal arteritis	3	CL E G H
HP:0008047	HP:0020166	Central retinal vein occlusion	3	CL E G H
HP:0008047	HP:0008014	Central fundal arteriolar microaneurysms	3	CL E G H
HP:0008047	HP:0020165	Branch retinal vein occlusion	3	CL E G H
HP:0008047	HP:0001096	Keratoconjunctivitis	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0008047	HP:0001096	Keratoconjunctivitis	3	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0008047	HP:0010729	Cherry red spot of the macula	3	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent		78
HP:0008047	HP:0010729	Cherry red spot of the macula	3	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.		78
HP:0008047	HP:0000631	Retinal arterial tortuosity	3	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008047	HP:0008043	Retinal arteriolar constriction	3	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.		182
HP:0008047	HP:0007985	Retinal arteriolar occlusion	3	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.		182
HP:0008047	HP:0001096	Keratoconjunctivitis	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008047	HP:0001096	Keratoconjunctivitis	3	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0008047	HP:0030667	Peripheral retinal neovascularization	3	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory	.		6
HP:0008047	HP:0007778	Posterior retinal neovascularization	3	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory	.		6
HP:0008047	HP:0001096	Keratoconjunctivitis	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0008047	HP:0011513	Retinal cavernous angioma	3	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional		37
HP:0008047	HP:0001096	Keratoconjunctivitis	3	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008047	HP:0001096	Keratoconjunctivitis	3	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy			129
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	.		193
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.		193
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of	.		193
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0008047	HP:0000631	Retinal arterial tortuosity	3	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0030503	Macular telangiectasia	3	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0008047	HP:0010729	Cherry red spot of the macula	3	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis	HP:0040281 - Very frequent		51
HP:0008047	HP:0010729	Cherry red spot of the macula	3	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0008047	HP:0025326	Retinal arterial occlusion	3	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare		101
HP:0008047	HP:0000631	Retinal arterial tortuosity	3	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0010729	Cherry red spot of the macula	3	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0008047	HP:0000631	Retinal arterial tortuosity	3	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008047	HP:0025326	Retinal arterial occlusion	3	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare		54
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0008047	HP:0001096	Keratoconjunctivitis	3	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0008047	HP:0001096	Keratoconjunctivitis	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0008047	HP:0001096	Keratoconjunctivitis	3	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive			106
HP:0008047	HP:0001096	Keratoconjunctivitis	3	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D			106
HP:0008047	HP:0001096	Keratoconjunctivitis	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0008047	HP:0001096	Keratoconjunctivitis	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0008047	HP:0001096	Keratoconjunctivitis	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0008047	HP:0007985	Retinal arteriolar occlusion	3	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040283 - Occasional		28
HP:0008047	HP:0001096	Keratoconjunctivitis	3	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0008047	HP:0001096	Keratoconjunctivitis	3	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0008047	HP:0001096	Keratoconjunctivitis	3	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		17
HP:0008047	HP:0001096	Keratoconjunctivitis	3	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		175
HP:0008047	HP:0001096	Keratoconjunctivitis	3	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040283 - Occasional		145
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008047	HP:0030503	Macular telangiectasia	3	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional		109
HP:0008047	HP:0010729	Cherry red spot of the macula	3	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare		160
HP:0008047	HP:0001096	Keratoconjunctivitis	3	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare		29
HP:0008047	HP:0001096	Keratoconjunctivitis	3	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant			199
HP:0008047	HP:0001096	Keratoconjunctivitis	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0008047	HP:0001096	Keratoconjunctivitis	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0008047	HP:0010729	Cherry red spot of the macula	3	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040282 - Frequent		120
HP:0008047	HP:0010729	Cherry red spot of the macula	3	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0008047	HP:0010729	Cherry red spot of the macula	3	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040282 - Frequent		69
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0008047	HP:0001096	Keratoconjunctivitis	3	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0008047	HP:0001096	Keratoconjunctivitis	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0008047	HP:0001096	Keratoconjunctivitis	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0008047	HP:0010729	Cherry red spot of the macula	3	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0008047	HP:0010729	Cherry red spot of the macula	3	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0008047	HP:0001096	Keratoconjunctivitis	3	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0008047	HP:0001096	Keratoconjunctivitis	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0008047	HP:0001096	Keratoconjunctivitis	3	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040281 - Very frequent		148
HP:0008047	HP:0001096	Keratoconjunctivitis	3	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0008047	HP:0001096	Keratoconjunctivitis	3	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0008047	HP:0025355	Retinal arterial macroaneurysms	3	IGFBP7 CL E G H	3490	5476	OMIM:614224	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	.		2
HP:0008047	HP:0001096	Keratoconjunctivitis	3	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0008047	HP:0001096	Keratoconjunctivitis	3	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0008047	HP:0001096	Keratoconjunctivitis	3	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0008047	HP:0001096	Keratoconjunctivitis	3	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0008047	HP:0001096	Keratoconjunctivitis	3	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0008047	HP:0011513	Retinal cavernous angioma	3	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional		92
HP:0008047	HP:0001096	Keratoconjunctivitis	3	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008047	HP:0030503	Macular telangiectasia	3	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional		125
HP:0008047	HP:0001096	Keratoconjunctivitis	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0008047	HP:0001096	Keratoconjunctivitis	3	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0008047	HP:0001096	Keratoconjunctivitis	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0008047	HP:0001096	Keratoconjunctivitis	3	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0008047	HP:0001096	Keratoconjunctivitis	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0008047	HP:0025326	Retinal arterial occlusion	3	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare		47
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0008047	HP:0000631	Retinal arterial tortuosity	3	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0000631	Retinal arterial tortuosity	3	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0000631	Retinal arterial tortuosity	3	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0000631	Retinal arterial tortuosity	3	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0000631	Retinal arterial tortuosity	3	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0000631	Retinal arterial tortuosity	3	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0008047	HP:0030503	Macular telangiectasia	3	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional		39
HP:0008047	HP:0000631	Retinal arterial tortuosity	3	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0008047	HP:0010729	Cherry red spot of the macula	3	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040282 - Frequent		43
HP:0008047	HP:0010729	Cherry red spot of the macula	3	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040282 - Frequent		43
HP:0008047	HP:0010729	Cherry red spot of the macula	3	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0008047	HP:0010729	Cherry red spot of the macula	3	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0008047	HP:0001096	Keratoconjunctivitis	3	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0008047	HP:0001096	Keratoconjunctivitis	3	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0008047	HP:0011513	Retinal cavernous angioma	3	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional		21
HP:0008047	HP:0008043	Retinal arteriolar constriction	3	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18	.		28
HP:0008047	HP:0010729	Cherry red spot of the macula	3	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare		81
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008047	HP:0001096	Keratoconjunctivitis	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0008047	HP:0001096	Keratoconjunctivitis	3	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0008047	HP:0001096	Keratoconjunctivitis	3	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary			318
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0008047	HP:0000631	Retinal arterial tortuosity	3	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0008047	HP:0010729	Cherry red spot of the macula	3	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent		164
HP:0008047	HP:0010729	Cherry red spot of the macula	3	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0008047	HP:0001096	Keratoconjunctivitis	3	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0008047	HP:0001096	Keratoconjunctivitis	3	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.		1
HP:0008047	HP:0001096	Keratoconjunctivitis	3	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008047	HP:0001096	Keratoconjunctivitis	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0008047	HP:0001096	Keratoconjunctivitis	3	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0008047	HP:0010729	Cherry red spot of the macula	3	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040283 - Occasional		33
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008047	HP:0007717	Chronic irritative conjunctivitis	3	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040283 - Occasional		140
HP:0008047	HP:0030503	Macular telangiectasia	3	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0008047	HP:0008043	Retinal arteriolar constriction	3	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14			66
HP:0008047	HP:0001096	Keratoconjunctivitis	3	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0008047	HP:0001096	Keratoconjunctivitis	3	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040284 - Very rare		31
HP:0008047	HP:0001096	Keratoconjunctivitis	3	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare		41
HP:0008047	HP:0001136	Retinal arteriolar tortuosity	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0008047	HP:0030503	Macular telangiectasia	3	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0008047	HP:0020163	Cilioretinal artery occlusion	4	CL E G H
HP:0008047	HP:0020161	Branch retinal artery occlusion	4	CL E G H
HP:0008047	HP:0025342	Central retinal artery occlusion	4	CL E G H
HP:0008047	HP:0020164	Ophthalmic artery occlusion	4	CL E G H
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0008047	HP:0007768	Central retinal vessel vascular tortuosity	4	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040283 - Occasional		129
HP:0008047	HP:0007768	Central retinal vessel vascular tortuosity	4	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0008047	HP:0007768	Central retinal vessel vascular tortuosity	4	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0008047	HP:0007768	Central retinal vessel vascular tortuosity	4	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	ERCC2 CL E G H	2068	3434	OMIM:601675	Trichothiodystrophy 1, photosensitive	HP:0040283 - Occasional		106
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	ERCC2 CL E G H	2068	3434	OMIM:278730	Xeroderma pigmentosum, complementation group D	HP:0040283 - Occasional		106
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare		199
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare		55
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent		17
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent		175
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent		145
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	GJB2 CL E G H	2706	4284	OMIM:148210	Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant	.		199
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040281 - Very frequent		53
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent		70
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional		9
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare		81
HP:0008047	HP:0007768	Central retinal vessel vascular tortuosity	4	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0008047	HP:0007768	Central retinal vessel vascular tortuosity	4	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0008047	HP:0007768	Central retinal vessel vascular tortuosity	4	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0008047	HP:0007768	Central retinal vessel vascular tortuosity	4	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0008047	HP:0007768	Central retinal vessel vascular tortuosity	4	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0008047	HP:0007768	Central retinal vessel vascular tortuosity	4	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0008047	HP:0007768	Central retinal vessel vascular tortuosity	4	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional		101
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.		318
HP:0008047	HP:0007768	Central retinal vessel vascular tortuosity	4	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	SREBF1 CL E G H	6720	11289	OMIM:619016	IFAP SYNDROME 2; IFAP2			1
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0008047	HP:0001097	Keratoconjunctivitis sicca	4	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional