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 morphology of the great vessels (HP:0030962)

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

Parent Node:
Abnormal aortic morphology (HP:0001679)

..Starting node
..Aortic tortuosity (HP:0006687)

Term ID:

6687

Name:

Aortic tortuosity

Synonym:

Definition:

Abnormal tortuous (i.e., twisted) form of the aorta.

Comments:

Reference:

HP:0006687

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal aortic arch morphology (HP:0012303)

Abnormal ascending aorta morphology (HP:0031784)

Aortic aneurysm (HP:0004942)

Aortic atherosclerotic lesion (HP:0012397)

Aortic dissection (HP:0002647)

Aortic rupture (HP:0031649)

Aorto-ventricular tunnel (HP:0011627)

Aortopulmonary collateral arteries (HP:0031834)

Calcification of the aorta (HP:0004963)

Coarctation of aorta (HP:0001680)

Coated aorta (HP:0025494)

Descending aorta hypoplasia (HP:0025495)

Mucoid extracellular matrix accumulation (HP:0200146)

Overriding aorta (HP:0002623)

Penetrating aortic ulcer (HP:0031648)

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:0006687	HP:0006687	Aortic tortuosity	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0006687	HP:0006687	Aortic tortuosity	0	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9		11
HP:0006687	HP:0006687	Aortic tortuosity	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.	178
HP:0006687	HP:0006687	Aortic tortuosity	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0006687	HP:0006687	Aortic tortuosity	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162

Genes (5) :IPO8 MFAP5 SLC2A10 SMAD3 TGFB2

Diseases (5) :OMIM:619472 OMIM:616166 OMIM:208050 OMIM:613795 OMIM:614816

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