Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 retinal vascular morphology (HP:0008046)

Parent Node:
Abnormal retinal artery morphology (HP:0000630)

Parent Node:
Arterial tortuosity (HP:0005116)

Parent Node:
Retinal vascular tortuosity (HP:0012841)

..Starting node
..Retinal arterial tortuosity (HP:0000631)

Term ID:

631

Name:

Retinal arterial tortuosity

Synonym:

Retinal artery tortuousity

Definition:

The presence of an increased number of twists and turns of the retinal artery.

Comments:

Reference:

HP:0000631

Genes and Diseases:

Child Nodes:

........

Central retinal vessel vascular tortuosity (HP:0007768)

Sister Nodes:

Retinal arteriolar tortuosity (HP:0001136)

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:0000631	HP:0000631	Retinal arterial tortuosity	0	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy
HP:0000631	HP:0000631	Retinal arterial tortuosity	0	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy
HP:0000631	HP:0000631	Retinal arterial tortuosity	0	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy
HP:0000631	HP:0000631	Retinal arterial tortuosity	0	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000631	HP:0000631	Retinal arterial tortuosity	0	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy
HP:0000631	HP:0000631	Retinal arterial tortuosity	0	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy
HP:0000631	HP:0000631	Retinal arterial tortuosity	0	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy
HP:0000631	HP:0000631	Retinal arterial tortuosity	0	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy
HP:0000631	HP:0000631	Retinal arterial tortuosity	0	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy
HP:0000631	HP:0000631	Retinal arterial tortuosity	0	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy
HP:0000631	HP:0000631	Retinal arterial tortuosity	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0000631	HP:0000631	Retinal arterial tortuosity	0	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0000631	HP:0007768	Central retinal vessel vascular tortuosity	1	ATP6 CL E G H	4508	7414	OMIM:535000	Leber optic atrophy	.
HP:0000631	HP:0007768	Central retinal vessel vascular tortuosity	1	COX3 CL E G H	4514	7422	OMIM:535000	Leber optic atrophy	.
HP:0000631	HP:0007768	Central retinal vessel vascular tortuosity	1	CYTB CL E G H	4519	7427	OMIM:535000	Leber optic atrophy	.
HP:0000631	HP:0007768	Central retinal vessel vascular tortuosity	1	DNAJC30 CL E G H	84277	16410	OMIM:619382	LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR
HP:0000631	HP:0007768	Central retinal vessel vascular tortuosity	1	ND1 CL E G H	4535	7455	OMIM:535000	Leber optic atrophy	.
HP:0000631	HP:0007768	Central retinal vessel vascular tortuosity	1	ND2 CL E G H	4536	7456	OMIM:535000	Leber optic atrophy	.
HP:0000631	HP:0007768	Central retinal vessel vascular tortuosity	1	ND4 CL E G H	4538	7459	OMIM:535000	Leber optic atrophy	.
HP:0000631	HP:0007768	Central retinal vessel vascular tortuosity	1	ND4L CL E G H	4539	7460	OMIM:535000	Leber optic atrophy	.
HP:0000631	HP:0007768	Central retinal vessel vascular tortuosity	1	ND5 CL E G H	4540	7461	OMIM:535000	Leber optic atrophy	.
HP:0000631	HP:0007768	Central retinal vessel vascular tortuosity	1	ND6 CL E G H	4541	7462	OMIM:535000	Leber optic atrophy	.
HP:0000631	HP:0007768	Central retinal vessel vascular tortuosity	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0000631	HP:0007768	Central retinal vessel vascular tortuosity	1	SELENOI CL E G H	85465	29361	ORPHA:506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	HP:0040282 - Frequent

Genes (12) :ATP6 COX3 CYTB DNAJC30 ND1 ND2 ND4 ND4L ND5 ND6 NEK1 SELENOI

Diseases (4) :OMIM:535000 OMIM:619382 ORPHA:2751 ORPHA:506353

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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