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:
Abnormal thrombosis (HP:0001977)

Parent Node:
Venous thrombosis (HP:0004936)

..Starting node
..Deep venous thrombosis (HP:0002625)

Term ID:

2625

Name:

Deep venous thrombosis

Synonym:

Blood clot in a deep vein; Deep vein thrombosis; Multiple deep venous thrombosis

Definition:

Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.

Comments:

Reference:

HP:0002625

Genes and Diseases:

Child Nodes:

........

Recurrent deep vein thrombosis (HP:0004850)

Sister Nodes:

Cerebral venous thrombosis (HP:0005305)

Splanchnic vein thrombosis (HP:0030247)

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:0002625	HP:0002625	Deep venous thrombosis	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0002625	HP:0002625	Deep venous thrombosis	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040284 - Very rare	66
HP:0002625	HP:0002625	Deep venous thrombosis	0	EPAS1 CL E G H	2034	3374	OMIM:611783	ERYTHROCYTOSIS, FAMILIAL, 4; ECYT4		112
HP:0002625	HP:0002625	Deep venous thrombosis	0	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0002625	HP:0002625	Deep venous thrombosis	0	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0002625	HP:0002625	Deep venous thrombosis	0	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor	.	159
HP:0002625	HP:0002625	Deep venous thrombosis	0	F8 CL E G H	2157	3546	OMIM:301071	THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT; THPH13		303
HP:0002625	HP:0002625	Deep venous thrombosis	0	F9 CL E G H	2158	3551	OMIM:300807	THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT; THPH8		143
HP:0002625	HP:0002625	Deep venous thrombosis	0	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0002625	HP:0002625	Deep venous thrombosis	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0002625	HP:0002625	Deep venous thrombosis	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional	183
HP:0002625	HP:0002625	Deep venous thrombosis	0	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0002625	HP:0002625	Deep venous thrombosis	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0002625	HP:0002625	Deep venous thrombosis	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36
HP:0002625	HP:0002625	Deep venous thrombosis	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040282 - Frequent	46
HP:0002625	HP:0002625	Deep venous thrombosis	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0002625	HP:0002625	Deep venous thrombosis	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0002625	HP:0002625	Deep venous thrombosis	0	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0002625	HP:0002625	Deep venous thrombosis	0	PROS1 CL E G H	5627	9456	ORPHA:743	Severe hereditary thrombophilia due to congenital protein S deficiency	HP:0040282 - Frequent	75
HP:0002625	HP:0002625	Deep venous thrombosis	0	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0002625	HP:0002625	Deep venous thrombosis	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040282 - Frequent	88
HP:0002625	HP:0002625	Deep venous thrombosis	0	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency		5
HP:0002625	HP:0002625	Deep venous thrombosis	0	THBD CL E G H	7056	11784	OMIM:614486	Thrombophilia due to thrombomodulin defect	.	60
HP:0002625	HP:0002625	Deep venous thrombosis	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:0002625	HP:0004850	Recurrent deep vein thrombosis	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0002625	HP:0004850	Recurrent deep vein thrombosis	1	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency	.	5

Genes (21) :AKT1 ALG6 EPAS1 F13A1 F2 F5 F8 F9 HABP2 MMACHC MTHFR MTRR PIEZO1 PIGA PMM2 PROC PROS1 SERPINC1 SERPIND1 THBD UBA1

Diseases (21) :OMIM:176920 ORPHA:79320 OMIM:611783 OMIM:188050 OMIM:188055 OMIM:301071 OMIM:300807 ORPHA:79282 ORPHA:395 ORPHA:2169 OMIM:616843 ORPHA:447 ORPHA:79318 OMIM:612304 OMIM:176860 ORPHA:743 OMIM:613118 ORPHA:82 OMIM:612356 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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