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:0004948	HP:0004948	Vascular tortuosity	0	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related		74
HP:0004948	HP:0004948	Vascular tortuosity	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0004948	Vascular tortuosity	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0004948	HP:0004948	Vascular tortuosity	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004948	HP:0004948	Vascular tortuosity	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0004948	Vascular tortuosity	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0004948	Vascular tortuosity	0	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0004948	HP:0004948	Vascular tortuosity	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB		45
HP:0004948	HP:0004948	Vascular tortuosity	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0004948	HP:0004948	Vascular tortuosity	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0004948	HP:0004948	Vascular tortuosity	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0004948	HP:0004948	Vascular tortuosity	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004948	HP:0004948	Vascular tortuosity	0	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0004948	Vascular tortuosity	0	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0004948	Vascular tortuosity	0	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0004948	Vascular tortuosity	0	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0004948	Vascular tortuosity	0	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0004948	Vascular tortuosity	0	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0004948	Vascular tortuosity	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0004948	HP:0004948	Vascular tortuosity	0	NT5E CL E G H	4907	8021	ORPHA:289601	Hereditary arterial and articular multiple calcification syndrome		3
HP:0004948	HP:0004948	Vascular tortuosity	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent	88
HP:0004948	HP:0004948	Vascular tortuosity	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0004948	HP:0004948	Vascular tortuosity	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0004948	HP:0004948	Vascular tortuosity	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0004948	HP:0004948	Vascular tortuosity	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0004948	HP:0004948	Vascular tortuosity	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0004948	HP:0004948	Vascular tortuosity	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0004948	HP:0004948	Vascular tortuosity	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0004948	HP:0004948	Vascular tortuosity	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0004948	HP:0004948	Vascular tortuosity	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004948	HP:0005116	Arterial tortuosity	1	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related		74
HP:0004948	HP:0005116	Arterial tortuosity	1	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0005116	Arterial tortuosity	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome		192
HP:0004948	HP:0005116	Arterial tortuosity	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004948	HP:0005116	Arterial tortuosity	1	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0005116	Arterial tortuosity	1	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0005116	Arterial tortuosity	1	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0004948	HP:0005116	Arterial tortuosity	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0004948	HP:0005116	Arterial tortuosity	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040281 - Very frequent
HP:0004948	HP:0005116	Arterial tortuosity	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004948	HP:0005116	Arterial tortuosity	1	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0005116	Arterial tortuosity	1	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0005116	Arterial tortuosity	1	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0005116	Arterial tortuosity	1	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0005116	Arterial tortuosity	1	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0005116	Arterial tortuosity	1	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0005116	Arterial tortuosity	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0004948	HP:0005116	Arterial tortuosity	1	NT5E CL E G H	4907	8021	ORPHA:289601	Hereditary arterial and articular multiple calcification syndrome	HP:0040283 - Occasional	3
HP:0004948	HP:0005116	Arterial tortuosity	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0004948	HP:0005116	Arterial tortuosity	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome		178
HP:0004948	HP:0005116	Arterial tortuosity	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0004948	HP:0005116	Arterial tortuosity	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0004948	HP:0005116	Arterial tortuosity	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0004948	HP:0005116	Arterial tortuosity	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040281 - Very frequent	239
HP:0004948	HP:0005116	Arterial tortuosity	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0004948	HP:0005116	Arterial tortuosity	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040281 - Very frequent	253
HP:0004948	HP:0005116	Arterial tortuosity	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004948	HP:0030165	Temporal artery tortuosity	2	CL E G H
HP:0004948	HP:0004938	Tortuous cerebral arteries	2	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related	.	74
HP:0004948	HP:0000631	Retinal arterial tortuosity	2	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0005302	Carotid artery tortuosity	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.	192
HP:0004948	HP:0004938	Tortuous cerebral arteries	2	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004948	HP:0005302	Carotid artery tortuosity	2	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004948	HP:0033981	Vertebral artery tortuosity	2	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004948	HP:0000631	Retinal arterial tortuosity	2	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0000631	Retinal arterial tortuosity	2	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0000631	Retinal arterial tortuosity	2	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0004948	HP:0004955	Generalized arterial tortuosity	2	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0004948	HP:0005302	Carotid artery tortuosity	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004948	HP:0004938	Tortuous cerebral arteries	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004948	HP:0000631	Retinal arterial tortuosity	2	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0000631	Retinal arterial tortuosity	2	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0000631	Retinal arterial tortuosity	2	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0000631	Retinal arterial tortuosity	2	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0000631	Retinal arterial tortuosity	2	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0000631	Retinal arterial tortuosity	2	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0004948	HP:0000631	Retinal arterial tortuosity	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0004948	HP:0000631	Retinal arterial tortuosity	2	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0004948	HP:0004955	Generalized arterial tortuosity	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0004948	HP:0004938	Tortuous cerebral arteries	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0004948	HP:0004955	Generalized arterial tortuosity	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	.	253
HP:0004948	HP:0007768	Central retinal vessel vascular tortuosity	3	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0004948	HP:0007768	Central retinal vessel vascular tortuosity	3	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0004948	HP:0007768	Central retinal vessel vascular tortuosity	3	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0004948	HP:0007768	Central retinal vessel vascular tortuosity	3	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0004948	HP:0007768	Central retinal vessel vascular tortuosity	3	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0004948	HP:0007768	Central retinal vessel vascular tortuosity	3	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0004948	HP:0007768	Central retinal vessel vascular tortuosity	3	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0004948	HP:0007768	Central retinal vessel vascular tortuosity	3	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0004948	HP:0007768	Central retinal vessel vascular tortuosity	3	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0004948	HP:0007768	Central retinal vessel vascular tortuosity	3	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0004948	HP:0007768	Central retinal vessel vascular tortuosity	3	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0004948	HP:0007768	Central retinal vessel vascular tortuosity	3	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent