Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal vascular morphology (HP:0025015)

Parent Node:
Abnormal systemic arterial morphology (HP:0011004)

Parent Node:
Vascular tortuosity (HP:0004948)

..Starting node
..Arterial tortuosity (HP:0005116)

Term ID:

5116

Name:

Arterial tortuosity

Synonym:

Definition:

Abnormal tortuous (i.e., twisted) form of arteries.

Comments:

Reference:

HP:0005116

Genes and Diseases:

Child Nodes:

........

Retinal arterial tortuosity (HP:0000631)

................... HP:0007768 Central retinal vessel vascular tortuosity

........

Tortuous cerebral arteries (HP:0004938)

........

Generalized arterial tortuosity (HP:0004955)

........

Carotid artery tortuosity (HP:0005302)

........

Temporal artery tortuosity (HP:0030165)

Sister Nodes:

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

Genes (23) :APP ATP6 ATP7A COL5A1 COX3 CYTB DNAJC30 EFEMP2 IPO8 ND1 ND2 ND4 ND4L ND5 ND6 NEK1 NT5E SELENOI SLC2A10 SMAD3 TGFB2 TGFBR1 TGFBR2

Diseases (17) :OMIM:605714 OMIM:535000 OMIM:304150 OMIM:619329 OMIM:619382 OMIM:614437 ORPHA:60030 OMIM:619472 ORPHA:2751 ORPHA:289601 ORPHA:506353 OMIM:208050 ORPHA:284984 OMIM:613795 OMIM:614816 OMIM:609192 OMIM:610168

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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