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 escape rhythm (HP:0005155)

Term ID:

5155

Name:

Ventricular escape rhythm

Synonym:

Idioventricular escape rhythm

Definition:

A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms).

Comments:

Reference:

HP:0005155

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bidirectional ventricular ectopy (HP:0005147)

Premature ventricular contraction (HP:0006682)

Torsade de pointes (HP:0001664)

Ventricular fibrillation (HP:0001663)

Ventricular preexcitation (HP:0004309)

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:0005155	HP:0005155	Ventricular escape rhythm	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	107
HP:0005155	HP:0005155	Ventricular escape rhythm	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	68
HP:0005155	HP:0005155	Ventricular escape rhythm	0	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1		39
HP:0005155	HP:0005155	Ventricular escape rhythm	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040282 - Frequent	7
HP:0005155	HP:0005155	Ventricular escape rhythm	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	645
HP:0005155	HP:0005155	Ventricular escape rhythm	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent	645
HP:0005155	HP:0005155	Ventricular escape rhythm	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040281 - Very frequent	13
HP:0005155	HP:0005155	Ventricular escape rhythm	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040281 - Very frequent	1134
HP:0005155	HP:0005155	Ventricular escape rhythm	0	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134
HP:0005155	HP:0005155	Ventricular escape rhythm	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	1129
HP:0005155	HP:0005155	Ventricular escape rhythm	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	508
HP:0005155	HP:0005155	Ventricular escape rhythm	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare	171

Genes (10) :EMD FHL1 GJA5 GNB5 LMNA NPPA SCN5A SYNE1 SYNE2 TMEM43

Diseases (7) :ORPHA:98863 OMIM:108770 ORPHA:542306 ORPHA:98853 ORPHA:98855 ORPHA:1344 OMIM:608567

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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