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:
Ventricular arrhythmia (HP:0004308)

Parent Node:
Ventricular preexcitation (HP:0004309)

..Starting node
..Wolff-Parkinson-White syndrome (HP:0001716)

Term ID:

1716

Name:

Wolff-Parkinson-White syndrome

Synonym:

Definition:

A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway.

Comments:

Reference:

HP:0001716

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ventricular preexcitation with multiple accessory pathways (HP:0006684)

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:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	BMP2 CL E G H	650	261295				ORPHA	1	171	1069	112261
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	GAA CL E G H	2548	232300	Glycogen storage disease, type II	232300	C0017921	OMIM	1	2442	4065	606800
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	LAMP2 CL E G H	3920	300257	Danon disease	300257	C0878677	OMIM	1	807	6501	309060
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-CO1 CL E G H	4512	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7419	516030
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-CO2 CL E G H	4513	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7421	516040
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-CO3 CL E G H	4514	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7422	516050
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-CYB CL E G H	4519	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7427	516020
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-ND1 CL E G H	4535	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7455	516000
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-ND5 CL E G H	4540	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7461	516005
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-ND6 CL E G H	4541	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7462	516006
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TC CL E G H	4511	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7477	590020
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TF CL E G H	4558	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7481	590070
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TK CL E G H	4566	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7489	590060
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TL1 CL E G H	4567	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7490	590050
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TQ CL E G H	4572	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7495	590030
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TS1 CL E G H	4574	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7497	590080
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TS2 CL E G H	4575	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7498	590085
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TV CL E G H	4577	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7500	590105
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TW CL E G H	4578	540000	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	540000	C0162671	OMIM	1		7501	590095
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	PRKAG2 CL E G H	51422	600858	Familial hypertrophic cardiomyopathy 6	600858	C1833236	OMIM	1	1079	9386	602743
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	PRKAG2 CL E G H	51422	194200	Wolff-Parkinson-White pattern	194200	C0043202	OMIM	1	1079	9386	602743
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TSC1 CL E G H	7248	191100	Tuberous sclerosis 1	191100	C1854465	OMIM	1	4172	12362	605284
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TSC2 CL E G H	7249	613254	Tuberous sclerosis 2	613254	C1860707	OMIM	1	9638	12363	191092
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-CO1 CL E G H	4512	550				ORPHA	0		7419	516030
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-CO2 CL E G H	4513	550				ORPHA	0		7421	516040
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-CO3 CL E G H	4514	550				ORPHA	0		7422	516050
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-ND1 CL E G H	4535	550				ORPHA	0		7455	516000
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-ND4 CL E G H	4538	550				ORPHA	0		7459	516003
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-ND5 CL E G H	4540	550				ORPHA	0		7461	516005
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-ND6 CL E G H	4541	550				ORPHA	0		7462	516006
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TF CL E G H	4558	550				ORPHA	0		7481	590070
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TH CL E G H	4564	550				ORPHA	0		7487	590040
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TL1 CL E G H	4567	550				ORPHA	0		7490	590050
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TQ CL E G H	4572	550				ORPHA	0		7495	590030
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TS1 CL E G H	4574	550				ORPHA	0		7497	590080
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TS2 CL E G H	4575	550				ORPHA	0		7498	590085
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MT-TW CL E G H	4578	550				ORPHA	0		7501	590095
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MTFMT CL E G H	123263	614947	Combined oxidative phosphorylation deficiency 15	614947	C3554182	OMIM	0	243	29666	611766
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TCAP CL E G H	8557	607487	Dilated cardiomyopathy 1N	607487	C1843791	OMIM	0	298	11610	604488

Genes (42) :BMP2 COX1 COX2 COX3 CYTB GAA LAMP2 MT-CO1 MT-CO2 MT-CO3 MT-CYB MT-ND1 MT-ND5 MT-ND6 MT-TC MT-TF MT-TK MT-TL1 MT-TQ MT-TS1 MT-TS2 MT-TV MT-TW MTFMT ND1 ND4 ND5 ND6 PRKAG2 TCAP TRNC TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TSC1 TSC2

Diseases (11) :261295 550 540000 232300 300257 614947 600858 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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