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:
Venous thrombosis (HP:0004936)

Parent Node:
Splanchnic vein thrombosis (HP:0030247)

..Starting node
..Hepatic vein thrombosis (HP:0030243)

Term ID:

30243

Name:

Hepatic vein thrombosis

Synonym:

Blood clot in liver vein; Hepatic venous thrombosis

Definition:

An obstruction in the veins of the liver caused by a blood clot (thrombosis).

Comments:

Reference:

HP:0030243

Genes and Diseases:

Child Nodes:

Sister Nodes:

Mesenteric venous thrombosis (HP:0030248)

Portal vein thrombosis (HP:0030242)

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:0030243	HP:0030243	Hepatic vein thrombosis	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0030243	HP:0030243	Hepatic vein thrombosis	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.	6
HP:0030243	HP:0030243	Hepatic vein thrombosis	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88

Genes (3) :CD55 PIGM SERPINC1

Diseases (3) :OMIM:226300 OMIM:610293 ORPHA:82

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.