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 cardiac ventricle morphology (HP:0001713)

Parent Node:
Abnormal right ventricle morphology (HP:0001707)

..Starting node
..Right ventricular dilatation (HP:0005133)

Term ID:

5133

Name:

Right ventricular dilatation

Synonym:

Dilated heart right ventricle

Definition:

Enlargement of the chamber of the right ventricle.

Comments:

Reference:

HP:0005133

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anomalous muscle bundle of the right ventricle (HP:0030740)

Cor pulmonale (HP:0001648)

Hypoplasia of right ventricle (HP:0004762)

Right ventricular hypertrophy (HP:0001667)

Right ventricular outlet tract obstruction (HP:0001705)

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:0005133	HP:0005133	Right ventricular dilatation	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	208
HP:0005133	HP:0005133	Right ventricular dilatation	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0005133	HP:0005133	Right ventricular dilatation	0	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0005133	HP:0005133	Right ventricular dilatation	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	5
HP:0005133	HP:0005133	Right ventricular dilatation	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040283 - Occasional	5
HP:0005133	HP:0005133	Right ventricular dilatation	0	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13		98
HP:0005133	HP:0005133	Right ventricular dilatation	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0005133	HP:0005133	Right ventricular dilatation	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	87
HP:0005133	HP:0005133	Right ventricular dilatation	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	37
HP:0005133	HP:0005133	Right ventricular dilatation	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0005133	HP:0005133	Right ventricular dilatation	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	452
HP:0005133	HP:0005133	Right ventricular dilatation	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	90
HP:0005133	HP:0005133	Right ventricular dilatation	0	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10		1134
HP:0005133	HP:0005133	Right ventricular dilatation	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	20
HP:0005133	HP:0005133	Right ventricular dilatation	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0005133	HP:0005133	Right ventricular dilatation	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional	6
HP:0005133	HP:0005133	Right ventricular dilatation	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040283 - Occasional	27

Genes (15) :ACTC1 ALG9 CDH2 CITED2 CTNNA3 FNIP1 GATA4 GATA6 IPO8 MYH6 NKX2-5 SCN5A TBX20 TLL1 TRAPPC11

Diseases (10) :ORPHA:99103 ORPHA:79328 OMIM:618920 ORPHA:99105 OMIM:615616 OMIM:619705 OMIM:619472 OMIM:614022 ORPHA:99106 ORPHA:369847

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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