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
..Arterial thrombosis (HP:0004420)

Term ID:

4420

Name:

Arterial thrombosis

Synonym:

Blood clot in artery

Definition:

The formation of a blood clot inside an artery.

Comments:

Reference:

HP:0004420

Genes and Diseases:

Child Nodes:

Sister Nodes:

Disseminated intravascular coagulation (HP:0005521)

Peripheral thrombosis (HP:0002641)

Thromboembolism (HP:0001907)

Venous thrombosis (HP:0004936)

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:0004420	HP:0004420	Arterial thrombosis	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0004420	HP:0004420	Arterial thrombosis	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0004420	HP:0004420	Arterial thrombosis	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	1
HP:0004420	HP:0004420	Arterial thrombosis	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	1
HP:0004420	HP:0004420	Arterial thrombosis	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040282 - Frequent	242
HP:0004420	HP:0004420	Arterial thrombosis	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0004420	HP:0004420	Arterial thrombosis	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0004420	HP:0004420	Arterial thrombosis	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional	59
HP:0004420	HP:0004420	Arterial thrombosis	0	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040282 - Frequent
HP:0004420	HP:0004420	Arterial thrombosis	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional	4
HP:0004420	HP:0004420	Arterial thrombosis	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0004420	HP:0004420	Arterial thrombosis	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0004420	HP:0004420	Arterial thrombosis	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional	60
HP:0004420	HP:0004420	Arterial thrombosis	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0004420	HP:0004420	Arterial thrombosis	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0004420	HP:0004420	Arterial thrombosis	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0004420	HP:0004420	Arterial thrombosis	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional	1
HP:0004420	HP:0004420	Arterial thrombosis	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	57
HP:0004420	HP:0004420	Arterial thrombosis	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent	57
HP:0004420	HP:0004420	Arterial thrombosis	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	57
HP:0004420	HP:0004420	Arterial thrombosis	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	57
HP:0004420	HP:0004420	Arterial thrombosis	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0004420	HP:0004420	Arterial thrombosis	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional	281
HP:0004420	HP:0004420	Arterial thrombosis	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	97
HP:0004420	HP:0004420	Arterial thrombosis	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent	97
HP:0004420	HP:0004420	Arterial thrombosis	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	97
HP:0004420	HP:0004420	Arterial thrombosis	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	97
HP:0004420	HP:0004420	Arterial thrombosis	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040283 - Occasional	1269
HP:0004420	HP:0004420	Arterial thrombosis	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0004420	HP:0004420	Arterial thrombosis	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional	46
HP:0004420	HP:0004420	Arterial thrombosis	0	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040283 - Occasional	75
HP:0004420	HP:0004420	Arterial thrombosis	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0004420	HP:0004420	Arterial thrombosis	0	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0004420	HP:0004420	Arterial thrombosis	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0004420	HP:0004420	Arterial thrombosis	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0004420	HP:0004420	Arterial thrombosis	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional	88
HP:0004420	HP:0004420	Arterial thrombosis	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	4
HP:0004420	HP:0004420	Arterial thrombosis	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional	2
HP:0004420	HP:0004420	Arterial thrombosis	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	3
HP:0004420	HP:0004420	Arterial thrombosis	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional	3
HP:0004420	HP:0004420	Arterial thrombosis	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional	3
HP:0004420	HP:0004420	Arterial thrombosis	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040281 - Very frequent	23
HP:0004420	HP:0004420	Arterial thrombosis	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional	3
HP:0004420	HP:0004420	Arterial thrombosis	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	911
HP:0004420	HP:0004420	Arterial thrombosis	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional

Genes (33) :AKT1 C4A CALR CBS CCR1 ERAP1 FAS FCGR2C HLA-B HLA-DRB1 IFNGR1 IL10 IL12A IL12A-AS1 IL23R JAK2 KLRC4 MEFV MPL MYH7 P4HA2 PIGA PROS1 PTEN PTPN22 SERPINC1 SH2B3 STAT4 TET2 THPO TLR4 TP53 UBAC2

Diseases (15) :ORPHA:744 ORPHA:117 ORPHA:3318 ORPHA:824 ORPHA:394 ORPHA:3002 ORPHA:397 ORPHA:71493 ORPHA:729 ORPHA:1880 ORPHA:447 ORPHA:743 OMIM:614514 OMIM:612336 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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