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 systemic arterial morphology (HP:0011004)

Grandparent Node:
Vascular tortuosity (HP:0004948)

Parent Node:
Abnormal cerebral artery morphology (HP:0009145)

Parent Node:
Arterial tortuosity (HP:0005116)

..Starting node
..Tortuous cerebral arteries (HP:0004938)

Term ID:

4938

Name:

Tortuous cerebral arteries

Synonym:

Twisted cerebral arteries

Definition:

Excessive bending, twisting, and winding of a cerebral artery.

Comments:

Reference:

HP:0004938

Genes and Diseases:

Child Nodes:

Sister Nodes:

Carotid artery tortuosity (HP:0005302)

Generalized arterial tortuosity (HP:0004955)

Retinal arterial tortuosity (HP:0000631)

Temporal artery tortuosity (HP:0030165)

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:0004938	HP:0004938	Tortuous cerebral arteries	0	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related	.	74
HP:0004938	HP:0004938	Tortuous cerebral arteries	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004938	HP:0004938	Tortuous cerebral arteries	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004938	HP:0004938	Tortuous cerebral arteries	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260

Genes (4) :APP COL5A1 IPO8 SMAD3

Diseases (4) :OMIM:605714 OMIM:619329 OMIM:619472 OMIM:613795

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