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:
Arrhythmia (HP:0011675)

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

..Starting node
..Sinus tachycardia (HP:0011703)

Term ID:

11703

Name:

Sinus tachycardia

Synonym:

Sinus tach; Sinus tachy

Definition:

Heart rate of greater than 100 beats per minute.

Comments:

Reference:

HP:0011703

Genes and Diseases:

Child Nodes:

........

Inappropriate sinus tachycardia (HP:0040182)

Sister Nodes:

Sick sinus syndrome (HP:0011704)

Sinoatrial block (HP:0012723)

Sinus bradycardia (HP:0001688)

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:0011703	HP:0011703	Sinus tachycardia	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2		415
HP:0011703	HP:0011703	Sinus tachycardia	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI		120
HP:0011703	HP:0011703	Sinus tachycardia	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.	22
HP:0011703	HP:0011703	Sinus tachycardia	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0011703	HP:0011703	Sinus tachycardia	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0011703	HP:0011703	Sinus tachycardia	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0011703	HP:0011703	Sinus tachycardia	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0011703	HP:0011703	Sinus tachycardia	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0011703	HP:0011703	Sinus tachycardia	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0011703	HP:0011703	Sinus tachycardia	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0011703	HP:0011703	Sinus tachycardia	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0011703	HP:0011703	Sinus tachycardia	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0011703	HP:0011703	Sinus tachycardia	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0011703	HP:0011703	Sinus tachycardia	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0011703	HP:0011703	Sinus tachycardia	0	PEX5 CL E G H	5830	9719	OMIM:616716	RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP5		99
HP:0011703	HP:0011703	Sinus tachycardia	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0011703	HP:0011703	Sinus tachycardia	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0011703	HP:0011703	Sinus tachycardia	0	RYR1 CL E G H	6261	10483	ORPHA:466650	Exercise-induced malignant hyperthermia	HP:0040282 - Frequent	1200
HP:0011703	HP:0011703	Sinus tachycardia	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0011703	HP:0011703	Sinus tachycardia	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0011703	HP:0011703	Sinus tachycardia	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0011703	HP:0011703	Sinus tachycardia	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0011703	HP:0011703	Sinus tachycardia	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0011703	HP:0011703	Sinus tachycardia	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0011703	HP:0011703	Sinus tachycardia	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0011703	HP:0011703	Sinus tachycardia	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0011703	HP:0011703	Sinus tachycardia	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0011703	HP:0011703	Sinus tachycardia	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0011703	HP:0011703	Sinus tachycardia	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0011703	HP:0011703	Sinus tachycardia	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0011703	HP:0011703	Sinus tachycardia	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0011703	HP:0040182	Inappropriate sinus tachycardia	1	CL E G H

Genes (27) :ABCC6 ARSB BANF1 DLST DNMT3A EPAS1 FH GAA KIF1B MAX MDH2 MYH7 MYPN NF1 PEX5 RET RYR1 SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 TPM2 TPM3 VHL

Diseases (10) :OMIM:614473 OMIM:253200 OMIM:614008 ORPHA:29072 ORPHA:276621 OMIM:232300 OMIM:255160 ORPHA:171881 OMIM:616716 ORPHA:466650

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