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:
Abnormal EKG (HP:0003115)

Parent Node:
Abnormal PR interval (HP:0031593)

..Starting node
..Prolonged PR interval (HP:0012248)

Term ID:

12248

Name:

Prolonged PR interval

Synonym:

Electrocardiographic long PR interval; Lengthened PR interval on EKG

Definition:

Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).

Comments:

Reference:

HP:0012248

Genes and Diseases:

Child Nodes:

Sister Nodes:

Shortened PR interval (HP:0005165)

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:0012248	HP:0012248	Prolonged PR interval	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	27
HP:0012248	HP:0012248	Prolonged PR interval	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10		358
HP:0012248	HP:0012248	Prolonged PR interval	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040283 - Occasional	7
HP:0012248	HP:0012248	Prolonged PR interval	0	GPD1L CL E G H	23171	28956	OMIM:611777	BRUGADA SYNDROME 2; BRGDA2		97
HP:0012248	HP:0012248	Prolonged PR interval	0	KCNA5 CL E G H	3741	6224	OMIM:612240	Atrial fibrillation, familial, 7	HP:0040283 - Occasional	38
HP:0012248	HP:0012248	Prolonged PR interval	0	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	.	90
HP:0012248	HP:0012248	Prolonged PR interval	0	SCN2B CL E G H	6327	10589	OMIM:615378	Atrial fibrillation, familial, 14		21
HP:0012248	HP:0012248	Prolonged PR interval	0	SCN5A CL E G H	6331	10593	OMIM:113900	Progressive familial heart block, type IA		1134
HP:0012248	HP:0012248	Prolonged PR interval	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare	145
HP:0012248	HP:0012248	Prolonged PR interval	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6

Genes (10) :CLCNKB DSG2 GNB5 GPD1L KCNA5 NKX2-5 SCN2B SCN5A SLC12A3 TLL1

Diseases (9) :ORPHA:358 OMIM:610193 ORPHA:542306 OMIM:611777 OMIM:612240 OMIM:108900 OMIM:615378 OMIM:113900 ORPHA:99106

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