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:
Abnormality of blood and blood-forming tissues (HP:0001871)

Parent Node:
Abnormal thrombosis (HP:0001977)

..Starting node
..Peripheral thrombosis (HP:0002641)

Term ID:

2641

Name:

Peripheral thrombosis

Synonym:

Peripheral blood clot

Definition:

Comments:

Reference:

HP:0002641

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arterial thrombosis (HP:0004420)

Disseminated intravascular coagulation (HP:0005521)

Thromboembolism (HP:0001907)

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:0002641	HP:0002641	Peripheral thrombosis	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.	57
HP:0002641	HP:0002641	Peripheral thrombosis	0	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.	4
HP:0002641	HP:0002641	Peripheral thrombosis	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2	.	490

Genes (3) :JAK2 SH2B3 VHL

Diseases (2) :OMIM:133100 OMIM:263400

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