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:
Arrhythmia (HP:0011675)

Parent Node:
Ventricular arrhythmia (HP:0004308)

..Starting node
..Ventricular preexcitation (HP:0004309)

Term ID:

4309

Name:

Ventricular preexcitation

Synonym:

Pre-excitation syndrome; Preexcitation; Ventricular pre-excitation

Definition:

An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway.

Comments:

Reference:

HP:0004309

Genes and Diseases:

Child Nodes:

........

Wolff-Parkinson-White syndrome (HP:0001716)

........

Ventricular preexcitation with multiple accessory pathways (HP:0006684)

Sister Nodes:

Bidirectional ventricular ectopy (HP:0005147)

Premature ventricular contraction (HP:0006682)

Torsade de pointes (HP:0001664)

Ventricular escape rhythm (HP:0005155)

Ventricular fibrillation (HP:0001663)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0004309	HP:0004309	Ventricular preexcitation	0	PRKAG2 CL E G H	51422	600858	Familial hypertrophic cardiomyopathy 6	600858	C1833236	OMIM	1	1079	9386	602743
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	PRKAG2 CL E G H	51422	600858	Familial hypertrophic cardiomyopathy 6	600858	C1833236	OMIM	1	1079	9386	602743
HP:0004309	HP:0006684	Ventricular preexcitation with multiple accessory pathways	1	PRKAG2 CL E G H	51422	600858	Familial hypertrophic cardiomyopathy 6	600858	C1833236	OMIM	1	1079	9386	602743
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004309	HP:0004309	Ventricular preexcitation	0	MT-ATP6 CL E G H	4508	104				ORPHA	0		7414	516060
HP:0004309	HP:0004309	Ventricular preexcitation	0	MT-CO1 CL E G H	4512	104				ORPHA	0		7419	516030
HP:0004309	HP:0004309	Ventricular preexcitation	0	MT-CO3 CL E G H	4514	104				ORPHA	0		7422	516050
HP:0004309	HP:0004309	Ventricular preexcitation	0	MT-CYB CL E G H	4519	104				ORPHA	0		7427	516020
HP:0004309	HP:0004309	Ventricular preexcitation	0	MT-ND1 CL E G H	4535	104				ORPHA	0		7455	516000
HP:0004309	HP:0004309	Ventricular preexcitation	0	MT-ND2 CL E G H	4536	104				ORPHA	0		7456	516001
HP:0004309	HP:0004309	Ventricular preexcitation	0	MT-ND4 CL E G H	4538	104				ORPHA	0		7459	516003
HP:0004309	HP:0004309	Ventricular preexcitation	0	MT-ND4L CL E G H	4539	104				ORPHA	0		7460	516004
HP:0004309	HP:0004309	Ventricular preexcitation	0	MT-ND5 CL E G H	4540	104				ORPHA	0		7461	516005
HP:0004309	HP:0004309	Ventricular preexcitation	0	MT-ND6 CL E G H	4541	104				ORPHA	0		7462	516006
HP:0004309	HP:0004309	Ventricular preexcitation	0	NDUFS2 CL E G H	4720	104				ORPHA	0	247	7708	602985
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	MT-ATP6 CL E G H	4508	104				ORPHA	0		7414	516060
HP:0004309	HP:0006684	Ventricular preexcitation with multiple accessory pathways	1	MT-ATP6 CL E G H	4508	104				ORPHA	0		7414	516060
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	MT-CO1 CL E G H	4512	104				ORPHA	0		7419	516030
HP:0004309	HP:0006684	Ventricular preexcitation with multiple accessory pathways	1	MT-CO1 CL E G H	4512	104				ORPHA	0		7419	516030
HP:0004309	HP:0006684	Ventricular preexcitation with multiple accessory pathways	1	MT-CO3 CL E G H	4514	104				ORPHA	0		7422	516050
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	MT-CO3 CL E G H	4514	104				ORPHA	0		7422	516050
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	MT-CYB CL E G H	4519	104				ORPHA	0		7427	516020
HP:0004309	HP:0006684	Ventricular preexcitation with multiple accessory pathways	1	MT-CYB CL E G H	4519	104				ORPHA	0		7427	516020
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	MT-ND1 CL E G H	4535	104				ORPHA	0		7455	516000
HP:0004309	HP:0006684	Ventricular preexcitation with multiple accessory pathways	1	MT-ND1 CL E G H	4535	104				ORPHA	0		7455	516000
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	MT-ND2 CL E G H	4536	104				ORPHA	0		7456	516001
HP:0004309	HP:0006684	Ventricular preexcitation with multiple accessory pathways	1	MT-ND2 CL E G H	4536	104				ORPHA	0		7456	516001
HP:0004309	HP:0006684	Ventricular preexcitation with multiple accessory pathways	1	MT-ND4 CL E G H	4538	104				ORPHA	0		7459	516003
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	MT-ND4 CL E G H	4538	104				ORPHA	0		7459	516003
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	MT-ND4L CL E G H	4539	104				ORPHA	0		7460	516004
HP:0004309	HP:0006684	Ventricular preexcitation with multiple accessory pathways	1	MT-ND4L CL E G H	4539	104				ORPHA	0		7460	516004
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	MT-ND5 CL E G H	4540	104				ORPHA	0		7461	516005
HP:0004309	HP:0006684	Ventricular preexcitation with multiple accessory pathways	1	MT-ND5 CL E G H	4540	104				ORPHA	0		7461	516005
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	MT-ND6 CL E G H	4541	104				ORPHA	0		7462	516006
HP:0004309	HP:0006684	Ventricular preexcitation with multiple accessory pathways	1	MT-ND6 CL E G H	4541	104				ORPHA	0		7462	516006
HP:0004309	HP:0006684	Ventricular preexcitation with multiple accessory pathways	1	NDUFS2 CL E G H	4720	104				ORPHA	0	247	7708	602985
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	NDUFS2 CL E G H	4720	104				ORPHA	0	247	7708	602985

Genes (30) :ATP6 BMP2 COX1 COX2 COX3 CYTB GAA LAMP2 MTFMT ND1 ND2 ND4 ND4L ND5 ND6 NDUFS2 PRKAG2 TCAP TRNC TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TSC1 TSC2

Diseases (12) :104 600858 261295 550 540000 232300 300257 614947 194200 607487 191100 613254

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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