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:
Deep venous thrombosis (HP:0002625)

..Starting node
..Recurrent deep vein thrombosis (HP:0004850)

Term ID:

4850

Name:

Recurrent deep vein thrombosis

Synonym:

Recurrent deep vein blood clot; Recurrent venous thrombosis

Definition:

Repeated episodes of the formation of a blot clot in a deep vein.

Comments:

Reference:

HP:0004850

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0004850	HP:0004850	Recurrent deep vein thrombosis	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0004850	HP:0004850	Recurrent deep vein thrombosis	0	SERPIND1 CL E G H	3053	4838	OMIM:612356	Heparin cofactor II deficiency	.	5

Genes (2) :PROC SERPIND1

Diseases (2) :OMIM:612304 OMIM:612356

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