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
..Thromboembolism (HP:0001907)

Term ID:

1907

Name:

Thromboembolism

Synonym:

Blood clot in blood vessel; Embolism and thrombosis; Thromboembolic disease; Thromboembolic events

Definition:

The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site.

Comments:

Reference:

HP:0001907

Genes and Diseases:

Child Nodes:

........

Thromboembolic stroke (HP:0001727)

........

Recurrent thromboembolism (HP:0004831)

Sister Nodes:

Arterial thrombosis (HP:0004420)

Disseminated intravascular coagulation (HP:0005521)

Peripheral thrombosis (HP:0002641)

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:0001907	HP:0001907	Thromboembolism	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome		22
HP:0001907	HP:0001907	Thromboembolism	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency		242
HP:0001907	HP:0001907	Thromboembolism	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040284 - Very rare	5
HP:0001907	HP:0001907	Thromboembolism	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0001907	HP:0001907	Thromboembolism	0	EPOR CL E G H	2057	3416	ORPHA:90042	Primary familial polycythemia	HP:0040283 - Occasional	43
HP:0001907	HP:0001907	Thromboembolism	0	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040283 - Occasional	28
HP:0001907	HP:0001907	Thromboembolism	0	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0001907	HP:0001907	Thromboembolism	0	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0001907	HP:0001907	Thromboembolism	0	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040281 - Very frequent
HP:0001907	HP:0001907	Thromboembolism	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040284 - Very rare	197
HP:0001907	HP:0001907	Thromboembolism	0	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0001907	HP:0001907	Thromboembolism	0	HRG CL E G H	3273	5181	OMIM:613116	Thrombophilia due to histidine-rich glycoprotein deficiency		4
HP:0001907	HP:0001907	Thromboembolism	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0001907	HP:0001907	Thromboembolism	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	3
HP:0001907	HP:0001907	Thromboembolism	0	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0001907	HP:0001907	Thromboembolism	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040284 - Very rare
HP:0001907	HP:0001907	Thromboembolism	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0001907	HP:0001907	Thromboembolism	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.	101
HP:0001907	HP:0001907	Thromboembolism	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency		183
HP:0001907	HP:0001907	Thromboembolism	0	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0001907	HP:0001907	Thromboembolism	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0001907	HP:0001907	Thromboembolism	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0001907	HP:0001907	Thromboembolism	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040284 - Very rare	217
HP:0001907	HP:0001907	Thromboembolism	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	13
HP:0001907	HP:0001907	Thromboembolism	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0001907	HP:0001907	Thromboembolism	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	36
HP:0001907	HP:0001907	Thromboembolism	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0001907	HP:0001907	Thromboembolism	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0001907	HP:0001907	Thromboembolism	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0001907	HP:0001907	Thromboembolism	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional	134
HP:0001907	HP:0001907	Thromboembolism	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional	1134
HP:0001907	HP:0001907	Thromboembolism	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency		88
HP:0001907	HP:0001907	Thromboembolism	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional	109
HP:0001907	HP:0001907	Thromboembolism	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional	6
HP:0001907	HP:0001907	Thromboembolism	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040284 - Very rare	180
HP:0001907	HP:0001907	Thromboembolism	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040284 - Very rare	248
HP:0001907	HP:0001907	Thromboembolism	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis		107
HP:0001907	HP:0001907	Thromboembolism	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0001907	HP:0033553	Septic embolism	1	CL E G H
HP:0001907	HP:0033520	Paradoxical embolism	1	CL E G H
HP:0001907	HP:0001727	Thromboembolic stroke	1	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040281 - Very frequent	22
HP:0001907	HP:0004831	Recurrent thromboembolism	1	HRG CL E G H	3273	5181	OMIM:613116	Thrombophilia due to histidine-rich glycoprotein deficiency	.	4
HP:0001907	HP:0001727	Thromboembolic stroke	1	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0001907	HP:0001727	Thromboembolic stroke	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional	183
HP:0001907	HP:0034192	Pulmonary thromboembolism	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0001907	HP:0004831	Recurrent thromboembolism	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040282 - Frequent	88
HP:0001907	HP:0033639	Septic pulmonary embolism	2	CL E G H

Genes (35) :ADA2 CBS CITED2 CYTB EPOR F12 F13A1 F2 FCGR2C FLNC HABP2 HRG JAK2 KCNN4 KCNQ1 KIF20A MMACHC MTHFR MTRR MYH7 MYPN NPPA PDE11A PIEZO1 PIGA PRDX1 PRKAR1A SCN5A SERPINC1 SLC4A1 TLL1 TNNI3 TNNT2 TTR UBA1

Diseases (26) :ORPHA:820 OMIM:236200 ORPHA:99105 ORPHA:137675 ORPHA:90042 ORPHA:330 OMIM:188050 ORPHA:3002 ORPHA:75249 OMIM:613116 OMIM:263300 ORPHA:3202 OMIM:607554 ORPHA:79282 OMIM:277400 ORPHA:395 ORPHA:2169 OMIM:613426 ORPHA:1344 ORPHA:1359 ORPHA:447 ORPHA:615 ORPHA:82 ORPHA:99106 ORPHA:85451 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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