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:
Thoracic aortic aneurysm (HP:0012727)

Parent Node:
Ascending tubular aorta aneurysm (HP:0004970)

..Starting node
..Dilatation of the sinus of Valsalva (HP:0011645)

Term ID:

11645

Name:

Dilatation of the sinus of Valsalva

Synonym:

Aneurysm of the aortic sinus; Aortic sinus aneurysm; Sinus of Valsalva aneurysm

Definition:

Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve.

Comments:

Reference:

HP:0011645

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fusiform ascending tubular aorta aneurysm (HP:0031643)

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:0011645	HP:0011645	Dilatation of the sinus of Valsalva	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040281 - Very frequent	260
HP:0011645	HP:0011645	Dilatation of the sinus of Valsalva	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260

Genes (1) :SMAD3

Diseases (2) :ORPHA:284984 OMIM:613795

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