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:
Abnormality of venous physiology (HP:0030846)

Parent Node:
Abnormal jugular venous pressure (HP:0030847)

..Starting node
..Elevated jugular venous pressure (HP:0030848)

Term ID:

30848

Name:

Elevated jugular venous pressure

Synonym:

Definition:

Increased jugular venous pressure.

Comments:

Reference:

HP:0030848

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hepatojugular reflux (HP:0030849)

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:0030848	HP:0030848	Elevated jugular venous pressure	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0030848	HP:0030848	Elevated jugular venous pressure	0	BMPR2 CL E G H	659	1078	OMIM:265450	PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOSOMAL DOMINANT; PVOD1		525
HP:0030848	HP:0030848	Elevated jugular venous pressure	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional	38
HP:0030848	HP:0030848	Elevated jugular venous pressure	0	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.