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 vascular morphology (HP:0025015)

Parent Node:
Abnormal cardiac ventricle morphology (HP:0001713)

Parent Node:
Vascular dilatation (HP:0002617)

..Starting node
..Dilatation of the ventricular cavity (HP:0006698)

Term ID:

6698

Name:

Dilatation of the ventricular cavity

Synonym:

Ventricular aneurysm

Definition:

A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.

Comments:

Reference:

HP:0006698

Genes and Diseases:

Child Nodes:

........

Fibrous cardiac diverticulum (HP:0100572)

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)

Pseudoaneurysm (HP:0031625)

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:0006698	HP:0006698	Dilatation of the ventricular cavity	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0006698	HP:0006698	Dilatation of the ventricular cavity	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	45
HP:0006698	HP:0006698	Dilatation of the ventricular cavity	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0006698	HP:0006698	Dilatation of the ventricular cavity	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0006698	HP:0006698	Dilatation of the ventricular cavity	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional	63
HP:0006698	HP:0006698	Dilatation of the ventricular cavity	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0006698	HP:0006698	Dilatation of the ventricular cavity	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional	34
HP:0006698	HP:0006698	Dilatation of the ventricular cavity	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0006698	HP:0006698	Dilatation of the ventricular cavity	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96
HP:0006698	HP:0006698	Dilatation of the ventricular cavity	0	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2		13
HP:0006698	HP:0006698	Dilatation of the ventricular cavity	0	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9	.	406
HP:0006698	HP:0006698	Dilatation of the ventricular cavity	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional	10
HP:0006698	HP:0006698	Dilatation of the ventricular cavity	0	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2	.	1103
HP:0006698	HP:0100572	Fibrous cardiac diverticulum	1	CL E G H

Genes (12) :ALDH18A1 EFEMP2 ELN FBLN5 FOCAD GMPPB LTBP1 NDE1 NPPA PKP2 RPL10 RYR2

Diseases (9) :ORPHA:90348 ORPHA:90349 OMIM:619991 ORPHA:363623 ORPHA:2177 OMIM:615745 OMIM:609040 ORPHA:459070 OMIM:600996

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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