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
..Portal vein thrombosis (HP:0030242)

Term ID:

30242

Name:

Portal vein thrombosis

Synonym:

Blood clot in portal vein

Definition:

Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins.

Comments:

Reference:

HP:0030242

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hepatic vein thrombosis (HP:0030243)

Mesenteric venous thrombosis (HP:0030248)

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:0030242	HP:0030242	Portal vein thrombosis	0	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent	88
HP:0030242	HP:0030242	Portal vein thrombosis	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0030242	HP:0030242	Portal vein thrombosis	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	3
HP:0030242	HP:0030242	Portal vein thrombosis	0	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent	375
HP:0030242	HP:0030242	Portal vein thrombosis	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0030242	HP:0030242	Portal vein thrombosis	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional	452
HP:0030242	HP:0030242	Portal vein thrombosis	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	36
HP:0030242	HP:0030242	Portal vein thrombosis	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.	6
HP:0030242	HP:0030242	Portal vein thrombosis	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0030242	HP:0030242	Portal vein thrombosis	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	109
HP:0030242	HP:0030242	Portal vein thrombosis	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3

Genes (11) :CTNNB1 JAK2 KCNN4 MET MPL NOTCH1 PIEZO1 PIGM SERPINC1 SLC4A1 TET2

Diseases (6) :ORPHA:33402 ORPHA:729 ORPHA:3202 OMIM:616028 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.

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