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 vascular physiology (HP:0030163)

Parent Node:
Abnormality of venous physiology (HP:0030846)

..Starting node
..Abnormal jugular venous pressure (HP:0030847)

Term ID:

30847

Name:

Abnormal jugular venous pressure

Synonym:

Definition:

An anomaly of the jugular venous pressure. The internal jugular veins, being continuous with the superior vena cava, provide a visible measure of the degree to which the systemic venous reservoir is filled. The vertical height above the right atrium to which they are distended and above which they are in a collapsed state provides an imperfect reflection of the right atrial pressure.

Comments:

Reference:

HP:0030847

Genes and Diseases:

Child Nodes:

........

Elevated jugular venous pressure (HP:0030848)

........

Hepatojugular reflux (HP:0030849)

Sister Nodes:

Abnormal vena cava physiology (HP:0030970)

Budd-Chiari syndrome (HP:0002639)

Venous occlusion (HP:0025322)

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:0030847	HP:0030847	Abnormal jugular venous pressure	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0030847	HP:0030847	Abnormal jugular venous pressure	0	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030847	HP:0030847	Abnormal jugular venous pressure	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1		38
HP:0030847	HP:0030847	Abnormal jugular venous pressure	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269
HP:0030847	HP:0030849	Hepatojugular reflux	1	CL E G H
HP:0030847	HP:0030848	Elevated jugular venous pressure	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0030847	HP:0030848	Elevated jugular venous pressure	1	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030847	HP:0030848	Elevated jugular venous pressure	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0030847	HP:0030848	Elevated jugular venous pressure	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive		1269

Genes (4) :BMP6 BMPR2 HFE MYH7

Diseases (3) :ORPHA:465508 OMIM:265450 OMIM:255160

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