Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease		78
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis		78
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY		182
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps		193
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies		193
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of		193
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis		51
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma		101
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma		54
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency		28
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity		109
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease		160
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1		120
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant		69
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	IGFBP7 CL E G H	3490	5476	OMIM:614224	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis		2
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity		125
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma		47
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity		39
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2		43
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2		43
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency		43
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1		43
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18		28
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease		81
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14		66
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0000630	HP:0000630	Abnormal retinal artery morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0000630	HP:0008030	Retinal arteritis	1	CL E G H
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0000630	HP:0010729	Cherry red spot of the macula	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040282 - Frequent	78
HP:0000630	HP:0010729	Cherry red spot of the macula	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.	78
HP:0000630	HP:0000631	Retinal arterial tortuosity	1	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000630	HP:0008043	Retinal arteriolar constriction	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.	182
HP:0000630	HP:0007985	Retinal arteriolar occlusion	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.	182
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	COL4A1 CL E G H	1282	2202	OMIM:611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	.	193
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	COL4A1 CL E G H	1282	2202	OMIM:180000	Retinal arteries, tortuosity of	.	193
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0000630	HP:0000631	Retinal arterial tortuosity	1	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0010729	Cherry red spot of the macula	1	CTSA CL E G H	5476	9251	ORPHA:351	Galactosialidosis	HP:0040281 - Very frequent	51
HP:0000630	HP:0010729	Cherry red spot of the macula	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis		51
HP:0000630	HP:0025326	Retinal arterial occlusion	1	CYP1B1 CL E G H	1545	2597	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare	101
HP:0000630	HP:0000631	Retinal arterial tortuosity	1	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0010729	Cherry red spot of the macula	1	DARS1 CL E G H	1615	2678	OMIM:615281	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0000630	HP:0000631	Retinal arterial tortuosity	1	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000630	HP:0025326	Retinal arterial occlusion	1	EFEMP1 CL E G H	2202	3218	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare	54
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000630	HP:0007985	Retinal arteriolar occlusion	1	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040283 - Occasional	28
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional	109
HP:0000630	HP:0010729	Cherry red spot of the macula	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare	160
HP:0000630	HP:0010729	Cherry red spot of the macula	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040282 - Frequent	120
HP:0000630	HP:0010729	Cherry red spot of the macula	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I		120
HP:0000630	HP:0010729	Cherry red spot of the macula	1	GM2A CL E G H	2760	4367	ORPHA:309246	GM2 gangliosidosis, AB variant	HP:0040282 - Frequent	69
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000630	HP:0010729	Cherry red spot of the macula	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease		80
HP:0000630	HP:0010729	Cherry red spot of the macula	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0000630	HP:0025355	Retinal arterial macroaneurysms	1	IGFBP7 CL E G H	3490	5476	OMIM:614224	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	.	2
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional	125
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000630	HP:0025326	Retinal arterial occlusion	1	MYOC CL E G H	4653	7610	ORPHA:98977	Juvenile glaucoma	HP:0040284 - Very rare	47
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0000630	HP:0000631	Retinal arterial tortuosity	1	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0000631	Retinal arterial tortuosity	1	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0000631	Retinal arterial tortuosity	1	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0000631	Retinal arterial tortuosity	1	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0000631	Retinal arterial tortuosity	1	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0000631	Retinal arterial tortuosity	1	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional	39
HP:0000630	HP:0000631	Retinal arterial tortuosity	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0000630	HP:0010729	Cherry red spot of the macula	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040282 - Frequent	43
HP:0000630	HP:0010729	Cherry red spot of the macula	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040282 - Frequent	43
HP:0000630	HP:0010729	Cherry red spot of the macula	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0000630	HP:0010729	Cherry red spot of the macula	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent	43
HP:0000630	HP:0008043	Retinal arteriolar constriction	1	PRPF3 CL E G H	9129	17348	OMIM:601414	Retinitis pigmentosa 18	.	28
HP:0000630	HP:0010729	Cherry red spot of the macula	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040284 - Very rare	81
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000630	HP:0000631	Retinal arterial tortuosity	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0000630	HP:0010729	Cherry red spot of the macula	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent	164
HP:0000630	HP:0010729	Cherry red spot of the macula	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0000630	HP:0010729	Cherry red spot of the macula	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040283 - Occasional	33
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000630	HP:0008043	Retinal arteriolar constriction	1	TULP1 CL E G H	7287	12423	OMIM:600132	RETINITIS PIGMENTOSA 14; RP14		66
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0000630	HP:0001136	Retinal arteriolar tortuosity	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0000630	HP:0020163	Cilioretinal artery occlusion	2	CL E G H
HP:0000630	HP:0020161	Branch retinal artery occlusion	2	CL E G H
HP:0000630	HP:0025342	Central retinal artery occlusion	2	CL E G H
HP:0000630	HP:0020164	Ophthalmic artery occlusion	2	CL E G H
HP:0000630	HP:0007768	Central retinal vessel vascular tortuosity	2	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0000630	HP:0007768	Central retinal vessel vascular tortuosity	2	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0000630	HP:0007768	Central retinal vessel vascular tortuosity	2	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0000630	HP:0007768	Central retinal vessel vascular tortuosity	2	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000630	HP:0007768	Central retinal vessel vascular tortuosity	2	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0000630	HP:0007768	Central retinal vessel vascular tortuosity	2	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0000630	HP:0007768	Central retinal vessel vascular tortuosity	2	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0000630	HP:0007768	Central retinal vessel vascular tortuosity	2	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0000630	HP:0007768	Central retinal vessel vascular tortuosity	2	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0000630	HP:0007768	Central retinal vessel vascular tortuosity	2	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0000630	HP:0007768	Central retinal vessel vascular tortuosity	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0000630	HP:0007768	Central retinal vessel vascular tortuosity	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent