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:
Abnormal electrophysiology of sinoatrial node origin (HP:0011702)

Parent Node:
Bradycardia (HP:0001662)

..Starting node
..Sinus bradycardia (HP:0001688)

Term ID:

1688

Name:

Sinus bradycardia

Synonym:

Definition:

Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.

Comments:

Reference:

HP:0001688

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0001688	HP:0001688	Sinus bradycardia	0	AKAP9 CL E G H	10142	379	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	289
HP:0001688	HP:0001688	Sinus bradycardia	0	ANK2 CL E G H	287	493	OMIM:600919	Cardiac arrhythmia, ankyrin-b-related	.	539
HP:0001688	HP:0001688	Sinus bradycardia	0	ANK2 CL E G H	287	493	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	539
HP:0001688	HP:0001688	Sinus bradycardia	0	BVES CL E G H	11149	1152	OMIM:616812	Muscular dystrophy, limb-girdle, autosomal recessive 25		2
HP:0001688	HP:0001688	Sinus bradycardia	0	CACNA1C CL E G H	775	1390	OMIM:618447	LONG QT SYNDROME 8; LQT8		572
HP:0001688	HP:0001688	Sinus bradycardia	0	CACNA1C CL E G H	775	1390	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	572
HP:0001688	HP:0001688	Sinus bradycardia	0	CALM1 CL E G H	801	1442	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	18
HP:0001688	HP:0001688	Sinus bradycardia	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15		13
HP:0001688	HP:0001688	Sinus bradycardia	0	CALM2 CL E G H	805	1445	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	13
HP:0001688	HP:0001688	Sinus bradycardia	0	CALM3 CL E G H	808	1449	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	16
HP:0001688	HP:0001688	Sinus bradycardia	0	CAV3 CL E G H	859	1529	OMIM:611818	Long QT syndrome 9	HP:0040283 - Occasional	148
HP:0001688	HP:0001688	Sinus bradycardia	0	CAV3 CL E G H	859	1529	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	148
HP:0001688	HP:0001688	Sinus bradycardia	0	GNB2 CL E G H	2783	4398	OMIM:619464	SICK SINUS SYNDROME 4; SSS4
HP:0001688	HP:0001688	Sinus bradycardia	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	.	185
HP:0001688	HP:0001688	Sinus bradycardia	0	HEPHL1 CL E G H	341208	30477	OMIM:261990	PILI TORTI AND DEVELOPMENTAL DELAY
HP:0001688	HP:0001688	Sinus bradycardia	0	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7		38
HP:0001688	HP:0001688	Sinus bradycardia	0	KCNE1 CL E G H	3753	6240	OMIM:613695	Long QT syndrome 5		148
HP:0001688	HP:0001688	Sinus bradycardia	0	KCNE1 CL E G H	3753	6240	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	148
HP:0001688	HP:0001688	Sinus bradycardia	0	KCNE2 CL E G H	9992	6242	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	43
HP:0001688	HP:0001688	Sinus bradycardia	0	KCNH2 CL E G H	3757	6251	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	901
HP:0001688	HP:0001688	Sinus bradycardia	0	KCNJ5 CL E G H	3762	6266	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	128
HP:0001688	HP:0001688	Sinus bradycardia	0	KCNQ1 CL E G H	3784	6294	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	730
HP:0001688	HP:0001688	Sinus bradycardia	0	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A		645
HP:0001688	HP:0001688	Sinus bradycardia	0	MYO1H CL E G H	283446	13879	OMIM:619482	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION; CCHS2
HP:0001688	HP:0001688	Sinus bradycardia	0	NOS1AP CL E G H	9722	16859	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	4
HP:0001688	HP:0001688	Sinus bradycardia	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.	235
HP:0001688	HP:0001688	Sinus bradycardia	0	SCN10A CL E G H	6336	10582	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	146
HP:0001688	HP:0001688	Sinus bradycardia	0	SCN4B CL E G H	6330	10592	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	110
HP:0001688	HP:0001688	Sinus bradycardia	0	SCN5A CL E G H	6331	10593	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	1134
HP:0001688	HP:0001688	Sinus bradycardia	0	SCN5A CL E G H	6331	10593	OMIM:608567	SICK SINUS SYNDROME 1; SSS1		1134
HP:0001688	HP:0001688	Sinus bradycardia	0	SNTA1 CL E G H	6640	11167	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	118
HP:0001688	HP:0001688	Sinus bradycardia	0	TBX5 CL E G H	6910	11604	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	123
HP:0001688	HP:0001688	Sinus bradycardia	0	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy	.	1
HP:0001688	HP:0001688	Sinus bradycardia	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D		248
HP:0001688	HP:0001688	Sinus bradycardia	0	TRDN CL E G H	10345	12261	ORPHA:101016	Romano-Ward syndrome	HP:0040282 - Frequent	145

Genes (29) :AKAP9 ANK2 BVES CACNA1C CALM1 CALM2 CALM3 CAV3 GNB2 HCN4 HEPHL1 KCNA5 KCNE1 KCNE2 KCNH2 KCNJ5 KCNQ1 LMNA MYO1H NOS1AP PRKAG2 SCN10A SCN4B SCN5A SNTA1 TBX5 TNNI3K TNNT2 TRDN

Diseases (17) :ORPHA:101016 OMIM:600919 OMIM:616812 OMIM:618447 OMIM:616249 OMIM:611818 OMIM:619464 OMIM:163800 OMIM:261990 OMIM:612240 OMIM:613695 OMIM:115200 OMIM:619482 OMIM:600858 OMIM:608567 OMIM:616117 OMIM:601494

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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