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
..Mesenteric venous thrombosis (HP:0030248)

Term ID:

30248

Name:

Mesenteric venous thrombosis

Synonym:

Blood clot in mesentertic vein

Definition:

A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine).

Comments:

Reference:

HP:0030248

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hepatic vein thrombosis (HP:0030243)

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:0030248	HP:0030248	Mesenteric venous thrombosis	0	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0030248	HP:0030248	Mesenteric venous thrombosis	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0030248	HP:0030248	Mesenteric venous thrombosis	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88

Genes (3) :EPAS1 PIGA SERPINC1

Diseases (3) :OMIM:611783 ORPHA:447 ORPHA:82

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