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:
Venous thrombosis (HP:0004936)

Parent Node:
Thrombophlebitis (HP:0004418)

..Starting node
..Recurrent thrombophlebitis (HP:0004419)

Term ID:

4419

Name:

Recurrent thrombophlebitis

Synonym:

Recurrent phlebitis; Recurrent thrombosis

Definition:

Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein).

Comments:

Reference:

HP:0004419

Genes and Diseases:

Child Nodes:

Sister Nodes:

Superficial thrombophlebitis (HP:0002638)

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:0004419	HP:0004419	Recurrent thrombophlebitis	0	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0004419	HP:0004419	Recurrent thrombophlebitis	0	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0004419	HP:0004419	Recurrent thrombophlebitis	0	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0004419	HP:0004419	Recurrent thrombophlebitis	0	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0004419	HP:0004419	Recurrent thrombophlebitis	0	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0004419	HP:0004419	Recurrent thrombophlebitis	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162

Genes (6) :F13A1 F2 HABP2 MTHFR SERPINC1 TGFB2

Diseases (3) :OMIM:188050 OMIM:613118 OMIM:614816

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.