Human Phenotype Ontology

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 vascular morphology (HP:0025015)

Parent Node:
Vascular dilatation (HP:0002617)

..Starting node
..Pseudoaneurysm (HP:0031625)

Term ID:

31625

Name:

Pseudoaneurysm

Synonym:

Definition:

A contained rupture of an artery with a disruption in all 3 layers of the arterial wall.

Comments:

Reference:

HP:0031625

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aortic aneurysm (HP:0004942)

Central fundal arteriolar microaneurysms (HP:0008014)

Dilatation of an abdominal artery (HP:0002636)

Dilatation of the cerebral artery (HP:0004944)

Dilatation of the ductus arteriosus (HP:0030745)

Dilatation of the ventricular cavity (HP:0006698)

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:0031625	HP:0031625	Pseudoaneurysm	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	96
HP:0031625	HP:0031625	Pseudoaneurysm	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040284 - Very rare	102

Genes (2) :EXT1 EXT2

Diseases (1) :ORPHA:321

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