Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040282 - Frequent	13
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.	407
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional	29
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.	235
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25	HP:0040283 - Occasional	78
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7		180
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0001716	HP:0001716	Wolff-Parkinson-White syndrome	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738

Genes (33) :ATP1A3 BMP2 COX1 COX2 COX3 CYTB FNIP1 GAA GTPBP3 IFNG JAG2 LAMP2 MRPS14 MTFMT ND1 ND4 ND5 ND6 PRKAG2 TCAP TNNI3 TRNC TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TSC1 TSC2

Diseases (18) :OMIM:601338 ORPHA:261295 ORPHA:550 OMIM:540000 ORPHA:137675 OMIM:619705 OMIM:232300 ORPHA:444013 OMIM:613254 OMIM:619566 OMIM:300257 OMIM:618378 OMIM:614947 OMIM:600858 OMIM:194200 OMIM:607487 OMIM:613690 OMIM:191100

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen