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:
Abnormal thrombosis (HP:0001977)

Parent Node:
Thromboembolism (HP:0001907)

..Starting node
..Thromboembolic stroke (HP:0001727)

Term ID:

1727

Name:

Thromboembolic stroke

Synonym:

Definition:

A cerebrovascular accident (stroke) that occurs because of thromboembolism.

Comments:

Reference:

HP:0001727

Genes and Diseases:

Child Nodes:

Sister Nodes:

Recurrent thromboembolism (HP:0004831)

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:0001727	HP:0001727	Thromboembolic stroke	0	ADA2 CL E G H	51816	1839	ORPHA:820	Sneddon syndrome	HP:0040281 - Very frequent	22
HP:0001727	HP:0001727	Thromboembolic stroke	0	KCNQ1 CL E G H	3784	6294	OMIM:607554	Atrial fibrillation, familial, 3		730
HP:0001727	HP:0001727	Thromboembolic stroke	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040283 - Occasional	183

Genes (3) :ADA2 KCNQ1 MTHFR

Diseases (3) :ORPHA:820 OMIM:607554 ORPHA:395

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