Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 blood and blood-forming tissues (HP:0001871)

Parent Node:
Abnormal thrombosis (HP:0001977)

..Starting node
..Venous thrombosis (HP:0004936)

Term ID:

4936

Name:

Venous thrombosis

Synonym:

Blood clot in vein

Definition:

Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.

Comments:

Reference:

HP:0004936

Genes and Diseases:

Child Nodes:

........

Deep venous thrombosis (HP:0002625)

................... HP:0004850 Recurrent deep vein thrombosis

........

Thrombophlebitis (HP:0004418)

................... HP:0002638 Superficial thrombophlebitis
................... HP:0004419 Recurrent thrombophlebitis

........

Cerebral venous thrombosis (HP:0005305)

........

Splanchnic vein thrombosis (HP:0030247)

................... HP:0030242 Portal vein thrombosis
................... HP:0030243 Hepatic vein thrombosis
................... HP:0030248 Mesenteric venous thrombosis

Sister Nodes:

Arterial thrombosis (HP:0004420)

Disseminated intravascular coagulation (HP:0005521)

Peripheral thrombosis (HP:0002641)

Thromboembolism (HP:0001907)

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:0004936	HP:0004936	Venous thrombosis	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0004936	HP:0004936	Venous thrombosis	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040282 - Frequent	1
HP:0004936	HP:0004936	Venous thrombosis	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome		54
HP:0004936	HP:0004936	Venous thrombosis	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic		54
HP:0004936	HP:0004936	Venous thrombosis	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG		66
HP:0004936	HP:0004936	Venous thrombosis	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0004936	HP:0004936	Venous thrombosis	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	1
HP:0004936	HP:0004936	Venous thrombosis	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0004936	HP:0004936	Venous thrombosis	0	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis		272
HP:0004936	HP:0004936	Venous thrombosis	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent	242
HP:0004936	HP:0004936	Venous thrombosis	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0004936	HP:0004936	Venous thrombosis	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0004936	HP:0004936	Venous thrombosis	0	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis		1371
HP:0004936	HP:0004936	Venous thrombosis	0	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis		5
HP:0004936	HP:0004936	Venous thrombosis	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	10
HP:0004936	HP:0004936	Venous thrombosis	0	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma		88
HP:0004936	HP:0004936	Venous thrombosis	0	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis		39
HP:0004936	HP:0004936	Venous thrombosis	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0004936	HP:0004936	Venous thrombosis	0	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0004936	HP:0004936	Venous thrombosis	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040281 - Very frequent	43
HP:0004936	HP:0004936	Venous thrombosis	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0004936	HP:0004936	Venous thrombosis	0	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included		60
HP:0004936	HP:0004936	Venous thrombosis	0	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included		44
HP:0004936	HP:0004936	Venous thrombosis	0	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor		159
HP:0004936	HP:0004936	Venous thrombosis	0	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0004936	HP:0004936	Venous thrombosis	0	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0004936	HP:0004936	Venous thrombosis	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040282 - Frequent	59
HP:0004936	HP:0004936	Venous thrombosis	0	FGA CL E G H	2243	3661	ORPHA:98881	Familial dysfibrinogenemia	HP:0040282 - Frequent	47
HP:0004936	HP:0004936	Venous thrombosis	0	FGB CL E G H	2244	3662	ORPHA:98881	Familial dysfibrinogenemia	HP:0040282 - Frequent	62
HP:0004936	HP:0004936	Venous thrombosis	0	FGG CL E G H	2266	3694	ORPHA:98881	Familial dysfibrinogenemia	HP:0040282 - Frequent	34
HP:0004936	HP:0004936	Venous thrombosis	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0004936	HP:0004936	Venous thrombosis	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040283 - Occasional	7
HP:0004936	HP:0004936	Venous thrombosis	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0004936	HP:0004936	Venous thrombosis	0	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included		58
HP:0004936	HP:0004936	Venous thrombosis	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional	580
HP:0004936	HP:0004936	Venous thrombosis	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional	580
HP:0004936	HP:0004936	Venous thrombosis	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040282 - Frequent	4
HP:0004936	HP:0004936	Venous thrombosis	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0004936	HP:0004936	Venous thrombosis	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	1
HP:0004936	HP:0004936	Venous thrombosis	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040281 - Very frequent	15
HP:0004936	HP:0004936	Venous thrombosis	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040283 - Occasional	15
HP:0004936	HP:0004936	Venous thrombosis	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040281 - Very frequent	29
HP:0004936	HP:0004936	Venous thrombosis	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040283 - Occasional	29
HP:0004936	HP:0004936	Venous thrombosis	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040282 - Frequent	60
HP:0004936	HP:0004936	Venous thrombosis	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040282 - Frequent	2
HP:0004936	HP:0004936	Venous thrombosis	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0004936	HP:0004936	Venous thrombosis	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0004936	HP:0004936	Venous thrombosis	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040282 - Frequent	1
HP:0004936	HP:0004936	Venous thrombosis	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	57
HP:0004936	HP:0004936	Venous thrombosis	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent	57
HP:0004936	HP:0004936	Venous thrombosis	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0004936	HP:0004936	Venous thrombosis	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0004936	HP:0004936	Venous thrombosis	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0004936	HP:0004936	Venous thrombosis	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0004936	HP:0004936	Venous thrombosis	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0004936	HP:0004936	Venous thrombosis	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040282 - Frequent	281
HP:0004936	HP:0004936	Venous thrombosis	0	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma		375
HP:0004936	HP:0004936	Venous thrombosis	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0004936	HP:0004936	Venous thrombosis	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	97
HP:0004936	HP:0004936	Venous thrombosis	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent	97
HP:0004936	HP:0004936	Venous thrombosis	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0004936	HP:0004936	Venous thrombosis	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0004936	HP:0004936	Venous thrombosis	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency		183
HP:0004936	HP:0004936	Venous thrombosis	0	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included		183
HP:0004936	HP:0004936	Venous thrombosis	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE		88
HP:0004936	HP:0004936	Venous thrombosis	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0004936	HP:0004936	Venous thrombosis	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0004936	HP:0004936	Venous thrombosis	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.	337
HP:0004936	HP:0004936	Venous thrombosis	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It		58
HP:0004936	HP:0004936	Venous thrombosis	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0004936	HP:0004936	Venous thrombosis	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0004936	HP:0004936	Venous thrombosis	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0004936	HP:0004936	Venous thrombosis	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.	6
HP:0004936	HP:0004936	Venous thrombosis	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0004936	HP:0004936	Venous thrombosis	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0004936	HP:0004936	Venous thrombosis	0	PROC CL E G H	5624	9451	ORPHA:745	Severe hereditary thrombophilia due to congenital protein C deficiency	HP:0040282 - Frequent	65
HP:0004936	HP:0004936	Venous thrombosis	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0004936	HP:0004936	Venous thrombosis	0	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant		65
HP:0004936	HP:0004936	Venous thrombosis	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0004936	HP:0004936	Venous thrombosis	0	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency		75
HP:0004936	HP:0004936	Venous thrombosis	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0004936	HP:0004936	Venous thrombosis	0	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0004936	HP:0004936	Venous thrombosis	0	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis		51
HP:0004936	HP:0004936	Venous thrombosis	0	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis		1
HP:0004936	HP:0004936	Venous thrombosis	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0004936	HP:0004936	Venous thrombosis	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome		948
HP:0004936	HP:0004936	Venous thrombosis	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040283 - Occasional	58
HP:0004936	HP:0004936	Venous thrombosis	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional	3
HP:0004936	HP:0004936	Venous thrombosis	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent	2
HP:0004936	HP:0004936	Venous thrombosis	0	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0004936	HP:0004936	Venous thrombosis	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0004936	HP:0004936	Venous thrombosis	0	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency		5
HP:0004936	HP:0004936	Venous thrombosis	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	4
HP:0004936	HP:0004936	Venous thrombosis	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0004936	HP:0004936	Venous thrombosis	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0004936	HP:0004936	Venous thrombosis	0	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis		34
HP:0004936	HP:0004936	Venous thrombosis	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040282 - Frequent	2
HP:0004936	HP:0004936	Venous thrombosis	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	3
HP:0004936	HP:0004936	Venous thrombosis	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3
HP:0004936	HP:0004936	Venous thrombosis	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0004936	HP:0004936	Venous thrombosis	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0004936	HP:0004936	Venous thrombosis	0	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect		60
HP:0004936	HP:0004936	Venous thrombosis	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent	23
HP:0004936	HP:0004936	Venous thrombosis	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040282 - Frequent	3
HP:0004936	HP:0004936	Venous thrombosis	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	911
HP:0004936	HP:0004936	Venous thrombosis	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0004936	HP:0004936	Venous thrombosis	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040282 - Frequent
HP:0004936	HP:0033724	Cerebral venous sinus thrombosis	1	CL E G H
HP:0004936	HP:0004418	Thrombophlebitis	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	54
HP:0004936	HP:0002625	Deep venous thrombosis	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0004936	HP:0002625	Deep venous thrombosis	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040284 - Very rare	66
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	272
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy		9
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	1371
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	5
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma		88
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	39
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0004936	HP:0002625	Deep venous thrombosis	1	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0004936	HP:0004418	Thrombophlebitis	1	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included		60
HP:0004936	HP:0002625	Deep venous thrombosis	1	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0004936	HP:0005305	Cerebral venous thrombosis	1	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0004936	HP:0002625	Deep venous thrombosis	1	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0004936	HP:0005305	Cerebral venous thrombosis	1	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0004936	HP:0004418	Thrombophlebitis	1	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included		44
HP:0004936	HP:0002625	Deep venous thrombosis	1	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor	.	159
HP:0004936	HP:0002625	Deep venous thrombosis	1	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0004936	HP:0002625	Deep venous thrombosis	1	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0004936	HP:0005305	Cerebral venous thrombosis	1	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0004936	HP:0002625	Deep venous thrombosis	1	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0004936	HP:0004418	Thrombophlebitis	1	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included		58
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera		57
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis		3
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma		375
HP:0004936	HP:0002625	Deep venous thrombosis	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera		97
HP:0004936	HP:0002625	Deep venous thrombosis	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional	183
HP:0004936	HP:0004418	Thrombophlebitis	1	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included		183
HP:0004936	HP:0002625	Deep venous thrombosis	1	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0004936	HP:0005305	Cerebral venous thrombosis	1	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0004936	HP:0002625	Deep venous thrombosis	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5		452
HP:0004936	HP:0005305	Cerebral venous thrombosis	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0004936	HP:0005305	Cerebral venous thrombosis	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It	HP:0040283 - Occasional	58
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis		36
HP:0004936	HP:0002625	Deep venous thrombosis	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0004936	HP:0002625	Deep venous thrombosis	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria		46
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency		6
HP:0004936	HP:0002625	Deep venous thrombosis	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0004936	HP:0005305	Cerebral venous thrombosis	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0004936	HP:0002625	Deep venous thrombosis	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0004936	HP:0004418	Thrombophlebitis	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0004936	HP:0004418	Thrombophlebitis	1	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant		65
HP:0004936	HP:0002625	Deep venous thrombosis	1	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0004936	HP:0005305	Cerebral venous thrombosis	1	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0004936	HP:0004418	Thrombophlebitis	1	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0004936	HP:0002625	Deep venous thrombosis	1	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040282 - Frequent	75
HP:0004936	HP:0004418	Thrombophlebitis	1	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040282 - Frequent	75
HP:0004936	HP:0005305	Cerebral venous thrombosis	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0004936	HP:0004418	Thrombophlebitis	1	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive		75
HP:0004936	HP:0004418	Thrombophlebitis	1	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal		75
HP:0004936	HP:0005305	Cerebral venous thrombosis	1	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	51
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	1
HP:0004936	HP:0004418	Thrombophlebitis	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	948
HP:0004936	HP:0002625	Deep venous thrombosis	1	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0004936	HP:0004418	Thrombophlebitis	1	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency		88
HP:0004936	HP:0005305	Cerebral venous thrombosis	1	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0004936	HP:0004418	Thrombophlebitis	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0004936	HP:0002625	Deep venous thrombosis	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040282 - Frequent	88
HP:0004936	HP:0005305	Cerebral venous thrombosis	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040284 - Very rare	88
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0004936	HP:0002625	Deep venous thrombosis	1	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency		5
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis		109
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional	34
HP:0004936	HP:0030247	Splanchnic vein thrombosis	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera		3
HP:0004936	HP:0004418	Thrombophlebitis	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0004936	HP:0002625	Deep venous thrombosis	1	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect	.	60
HP:0004936	HP:0002625	Deep venous thrombosis	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0004936	HP:0030243	Hepatic vein thrombosis	2	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0004936	HP:0030242	Portal vein thrombosis	2	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent	88
HP:0004936	HP:0030248	Mesenteric venous thrombosis	2	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0004936	HP:0004419	Recurrent thrombophlebitis	2	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0004936	HP:0004419	Recurrent thrombophlebitis	2	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0004936	HP:0004419	Recurrent thrombophlebitis	2	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0004936	HP:0030242	Portal vein thrombosis	2	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0004936	HP:0030242	Portal vein thrombosis	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	3
HP:0004936	HP:0030242	Portal vein thrombosis	2	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent	375
HP:0004936	HP:0030242	Portal vein thrombosis	2	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0004936	HP:0004419	Recurrent thrombophlebitis	2	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0004936	HP:0030242	Portal vein thrombosis	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional	452
HP:0004936	HP:0030242	Portal vein thrombosis	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	36
HP:0004936	HP:0030248	Mesenteric venous thrombosis	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0004936	HP:0030242	Portal vein thrombosis	2	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.	6
HP:0004936	HP:0030243	Hepatic vein thrombosis	2	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.	6
HP:0004936	HP:0004850	Recurrent deep vein thrombosis	2	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0004936	HP:0002638	Superficial thrombophlebitis	2	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0004936	HP:0002638	Superficial thrombophlebitis	2	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0004936	HP:0002638	Superficial thrombophlebitis	2	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0004936	HP:0002638	Superficial thrombophlebitis	2	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0004936	HP:0004419	Recurrent thrombophlebitis	2	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0004936	HP:0002638	Superficial thrombophlebitis	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040282 - Frequent	88
HP:0004936	HP:0030242	Portal vein thrombosis	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0004936	HP:0030243	Hepatic vein thrombosis	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0004936	HP:0030248	Mesenteric venous thrombosis	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0004936	HP:0004850	Recurrent deep vein thrombosis	2	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency	.	5
HP:0004936	HP:0030242	Portal vein thrombosis	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040284 - Very rare	109
HP:0004936	HP:0030242	Portal vein thrombosis	2	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3
HP:0004936	HP:0004419	Recurrent thrombophlebitis	2	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162

Genes (86) :ACVRL1 AGGF1 AKT1 ALG6 C4A CALR CASR CBS CCR1 CD55 CFTR CPA1 CTLA4 CTNNB1 CTRC ENG EPAS1 EPOR ERAP1 F13A1 F2 F5 F8 F9 FAS FGA FGB FGG GDF2 GNAQ HABP2 HBB HLA-B HLA-DPA1 HLA-DPB1 IDH1 IDH2 IFNGR1 IL10 IL12A IL12A-AS1 IL23R JAK2 KCNN4 KIF11 KLRC4 MEFV MET MMACHC MPL MTHFR MTRR NOTCH1 PDE4D PDGFRA PGM1 PIEZO1 PIGA PIGM PMM2 PRKAR1A PROC PRORP PROS1 PRSS1 PRSS2 PRTN3 PTEN PTH1R PTPN22 SAA1 SERPINC1 SERPIND1 SH2B3 SLC4A1 SMAD4 SPINK1 STAT4 TET2 TGFB2 THBD THPO TLR4 TP53 UBA1 UBAC2

Diseases (55) :ORPHA:774 ORPHA:90308 ORPHA:744 OMIM:176920 ORPHA:79320 ORPHA:117 ORPHA:3318 ORPHA:824 ORPHA:676 ORPHA:394 OMIM:226300 ORPHA:900 ORPHA:33402 OMIM:611783 ORPHA:90042 OMIM:188050 OMIM:188055 OMIM:301071 OMIM:300807 ORPHA:98881 ORPHA:624 ORPHA:3205 ORPHA:231214 ORPHA:231226 ORPHA:163634 ORPHA:296 ORPHA:71493 ORPHA:729 ORPHA:3202 ORPHA:2526 ORPHA:79282 ORPHA:395 ORPHA:2169 OMIM:616028 ORPHA:280651 OMIM:607685 OMIM:614921 OMIM:616843 ORPHA:447 OMIM:610293 ORPHA:79318 ORPHA:745 OMIM:612304 OMIM:176860 OMIM:619737 ORPHA:743 OMIM:614514 OMIM:612336 ORPHA:85445 OMIM:613118 ORPHA:82 OMIM:612356 OMIM:614816 OMIM:614486 OMIM:301054

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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