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	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004309	HP:0004309	Ventricular preexcitation	0	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0004309	HP:0004309	Ventricular preexcitation	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0004309	HP:0004309	Ventricular preexcitation	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome		13
HP:0004309	HP:0004309	Ventricular preexcitation	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0004309	HP:0004309	Ventricular preexcitation	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0004309	HP:0004309	Ventricular preexcitation	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0004309	HP:0004309	Ventricular preexcitation	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0004309	HP:0004309	Ventricular preexcitation	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0004309	HP:0004309	Ventricular preexcitation	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0004309	HP:0004309	Ventricular preexcitation	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0004309	HP:0004309	Ventricular preexcitation	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0004309	HP:0004309	Ventricular preexcitation	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0004309	HP:0004309	Ventricular preexcitation	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0004309	HP:0004309	Ventricular preexcitation	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0004309	HP:0004309	Ventricular preexcitation	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0004309	HP:0004309	Ventricular preexcitation	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0004309	HP:0004309	Ventricular preexcitation	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease		211
HP:0004309	HP:0004309	Ventricular preexcitation	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0004309	HP:0004309	Ventricular preexcitation	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15		29
HP:0004309	HP:0004309	Ventricular preexcitation	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0004309	HP:0004309	Ventricular preexcitation	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0004309	HP:0004309	Ventricular preexcitation	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0004309	HP:0004309	Ventricular preexcitation	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0004309	HP:0004309	Ventricular preexcitation	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0004309	HP:0004309	Ventricular preexcitation	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0004309	HP:0004309	Ventricular preexcitation	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0004309	HP:0004309	Ventricular preexcitation	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0004309	HP:0004309	Ventricular preexcitation	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional
HP:0004309	HP:0004309	Ventricular preexcitation	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0004309	HP:0004309	Ventricular preexcitation	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040283 - Occasional	65
HP:0004309	HP:0004309	Ventricular preexcitation	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.	235
HP:0004309	HP:0004309	Ventricular preexcitation	0	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0004309	HP:0004309	Ventricular preexcitation	0	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25		78
HP:0004309	HP:0004309	Ventricular preexcitation	0	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7		180
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0004309	HP:0004309	Ventricular preexcitation	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0004309	HP:0004309	Ventricular preexcitation	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0004309	HP:0004309	Ventricular preexcitation	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	ATP1A3 CL E G H	478	801	OMIM:601338	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss		150
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040282 - Frequent	13
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93		1
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.	407
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27		1
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.	211
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional	29
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.	235
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0004309	HP:0006684	Ventricular preexcitation with multiple accessory pathways	1	PRKAG2 CL E G H	51422	9386	OMIM:194200	WOLFF-PARKINSON-WHITE SYNDROME		235
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25	HP:0040283 - Occasional	78
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7		180
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0004309	HP:0001716	Wolff-Parkinson-White syndrome	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738

Genes (38) :ATP1A3 ATP6 BMP2 COX1 COX2 COX3 CYTB DNAJC30 FNIP1 GAA GTPBP3 IFNG JAG2 LAMP2 MRPS14 MTFMT ND1 ND2 ND4 ND4L ND5 ND6 NDUFS2 PRKAG2 TCAP TNNI3 TRNC TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TSC1 TSC2

Diseases (19) :OMIM:601338 ORPHA:104 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.

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