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:
Abnormal thrombosis (HP:0001977)

Parent Node:
Venous thrombosis (HP:0004936)

..Starting node
..Splanchnic vein thrombosis (HP:0030247)

Term ID:

30247

Name:

Splanchnic vein thrombosis

Synonym:

Blood clot in splanchnic vein

Definition:

The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity).

Comments:

Reference:

HP:0030247

Genes and Diseases:

Child Nodes:

........

Portal vein thrombosis (HP:0030242)

........

Hepatic vein thrombosis (HP:0030243)

........

Mesenteric venous thrombosis (HP:0030248)

Sister Nodes:

Cerebral venous thrombosis (HP:0005305)

Deep venous thrombosis (HP:0002625)

Thrombophlebitis (HP:0004418)

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:0030247	HP:0030247	Splanchnic vein thrombosis	0	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	272
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	1371
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	5
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma		88
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	39
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma		375
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	51
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	1
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	34
HP:0030247	HP:0030247	Splanchnic vein thrombosis	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0030247	HP:0030243	Hepatic vein thrombosis	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0030247	HP:0030242	Portal vein thrombosis	1	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent	88
HP:0030247	HP:0030248	Mesenteric venous thrombosis	1	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0030247	HP:0030242	Portal vein thrombosis	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0030247	HP:0030242	Portal vein thrombosis	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	3
HP:0030247	HP:0030242	Portal vein thrombosis	1	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent	375
HP:0030247	HP:0030242	Portal vein thrombosis	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0030247	HP:0030242	Portal vein thrombosis	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional	452
HP:0030247	HP:0030242	Portal vein thrombosis	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	36
HP:0030247	HP:0030248	Mesenteric venous thrombosis	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0030247	HP:0030242	Portal vein thrombosis	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.	6
HP:0030247	HP:0030243	Hepatic vein thrombosis	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.	6
HP:0030247	HP:0030242	Portal vein thrombosis	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0030247	HP:0030243	Hepatic vein thrombosis	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0030247	HP:0030248	Mesenteric venous thrombosis	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0030247	HP:0030242	Portal vein thrombosis	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	109
HP:0030247	HP:0030242	Portal vein thrombosis	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3

Genes (21) :CASR CD55 CFTR CPA1 CTNNB1 CTRC EPAS1 JAK2 KCNN4 MET MPL NOTCH1 PIEZO1 PIGA PIGM PRSS1 PRSS2 SERPINC1 SLC4A1 SPINK1 TET2

Diseases (10) :ORPHA:676 OMIM:226300 ORPHA:33402 OMIM:611783 ORPHA:729 ORPHA:3202 OMIM:616028 ORPHA:447 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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