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:
Heart block (HP:0012722)

Parent Node:
Bundle branch block (HP:0011710)

..Starting node
..Trifascicular block (HP:0011715)

Term ID:

11715

Name:

Trifascicular block

Synonym:

Definition:

Abnormal conduction in all three divisions of the intraventricular conducting tissue.

Comments:

Reference:

HP:0011715

Genes and Diseases:

Child Nodes:

Sister Nodes:

Left bundle branch block (HP:0011713)

Right bundle branch block (HP:0011712)

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:0011715	HP:0011715	Trifascicular block	0	ABCC9 CL E G H	10060	60	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	254
HP:0011715	HP:0011715	Trifascicular block	0	AKAP9 CL E G H	10142	379	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	289
HP:0011715	HP:0011715	Trifascicular block	0	CACNA1C CL E G H	775	1390	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	572
HP:0011715	HP:0011715	Trifascicular block	0	CACNA2D1 CL E G H	781	1399	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	59
HP:0011715	HP:0011715	Trifascicular block	0	CACNB2 CL E G H	783	1402	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	206
HP:0011715	HP:0011715	Trifascicular block	0	GPD1L CL E G H	23171	28956	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	97
HP:0011715	HP:0011715	Trifascicular block	0	HCN4 CL E G H	10021	16882	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	185
HP:0011715	HP:0011715	Trifascicular block	0	KCND3 CL E G H	3752	6239	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	35
HP:0011715	HP:0011715	Trifascicular block	0	KCNE3 CL E G H	10008	6243	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	73
HP:0011715	HP:0011715	Trifascicular block	0	KCNE5 CL E G H	23630	6241	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	5
HP:0011715	HP:0011715	Trifascicular block	0	KCNJ8 CL E G H	3764	6269	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	23
HP:0011715	HP:0011715	Trifascicular block	0	PKP2 CL E G H	5318	9024	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	406
HP:0011715	HP:0011715	Trifascicular block	0	RANGRF CL E G H	29098	17679	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	22
HP:0011715	HP:0011715	Trifascicular block	0	SCN10A CL E G H	6336	10582	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	146
HP:0011715	HP:0011715	Trifascicular block	0	SCN1B CL E G H	6324	10586	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	126
HP:0011715	HP:0011715	Trifascicular block	0	SCN2B CL E G H	6327	10589	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	21
HP:0011715	HP:0011715	Trifascicular block	0	SCN3B CL E G H	55800	20665	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	122
HP:0011715	HP:0011715	Trifascicular block	0	SCN5A CL E G H	6331	10593	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	1134
HP:0011715	HP:0011715	Trifascicular block	0	SCNN1A CL E G H	6337	10599	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	67
HP:0011715	HP:0011715	Trifascicular block	0	SEMA3A CL E G H	10371	10723	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	14
HP:0011715	HP:0011715	Trifascicular block	0	SLMAP CL E G H	7871	16643	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	18
HP:0011715	HP:0011715	Trifascicular block	0	TRPM4 CL E G H	54795	17993	ORPHA:130	Brugada syndrome	HP:0040284 - Very rare	124

Genes (22) :ABCC9 AKAP9 CACNA1C CACNA2D1 CACNB2 GPD1L HCN4 KCND3 KCNE3 KCNE5 KCNJ8 PKP2 RANGRF SCN10A SCN1B SCN2B SCN3B SCN5A SCNN1A SEMA3A SLMAP TRPM4

Diseases (1) :ORPHA:130

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