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
..Superficial thrombophlebitis (HP:0002638)

Term ID:

2638

Name:

Superficial thrombophlebitis

Synonym:

Definition:

Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein).

Comments:

Reference:

HP:0002638

Genes and Diseases:

Child Nodes:

Sister Nodes:

Recurrent thrombophlebitis (HP:0004419)

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:0002638	HP:0002638	Superficial thrombophlebitis	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0002638	HP:0002638	Superficial thrombophlebitis	0	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0002638	HP:0002638	Superficial thrombophlebitis	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0002638	HP:0002638	Superficial thrombophlebitis	0	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0002638	HP:0002638	Superficial thrombophlebitis	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040282 - Frequent	88

Genes (3) :PROC PROS1 SERPINC1

Diseases (5) :OMIM:612304 OMIM:176860 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.