Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Venous thrombosis (HP:0004936)

..Starting node
..Cerebral venous thrombosis (HP:0005305)

Term ID:

5305

Name:

Cerebral venous thrombosis

Synonym:

Blood clot in cerebral vein; Cerebral thrombosis; Cerebral vein thrombosis

Definition:

Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow.

Comments:

Reference:

HP:0005305

Genes and Diseases:

Child Nodes:

Sister Nodes:

Deep venous thrombosis (HP:0002625)

Splanchnic vein thrombosis (HP:0030247)

Thrombophlebitis (HP:0004418)

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:0005305	HP:0005305	Cerebral venous thrombosis	0	F13A1 CL E G H	2162	3531	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	60
HP:0005305	HP:0005305	Cerebral venous thrombosis	0	F2 CL E G H	2147	3535	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	44
HP:0005305	HP:0005305	Cerebral venous thrombosis	0	HABP2 CL E G H	3026	4798	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	58
HP:0005305	HP:0005305	Cerebral venous thrombosis	0	MTHFR CL E G H	4524	7436	OMIM:188050	Thrombophiliavenous thromboembolism, included	.	183
HP:0005305	HP:0005305	Cerebral venous thrombosis	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0005305	HP:0005305	Cerebral venous thrombosis	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It	HP:0040283 - Occasional	58
HP:0005305	HP:0005305	Cerebral venous thrombosis	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0005305	HP:0005305	Cerebral venous thrombosis	0	PROC CL E G H	5624	9451	OMIM:176860	Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant	.	65
HP:0005305	HP:0005305	Cerebral venous thrombosis	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0005305	HP:0005305	Cerebral venous thrombosis	0	PROS1 CL E G H	5627	9456	OMIM:612336	Thrombophilia, hereditary, due to protein S deficiency, autosomal	.	75
HP:0005305	HP:0005305	Cerebral venous thrombosis	0	SERPINC1 CL E G H	462	775	OMIM:613118	Antithrombin III deficiency	.	88
HP:0005305	HP:0005305	Cerebral venous thrombosis	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040284 - Very rare	88

Genes (10) :F13A1 F2 HABP2 MTHFR PDE4D PGM1 PRKAR1A PROC PROS1 SERPINC1

Diseases (8) :OMIM:188050 ORPHA:280651 OMIM:614921 OMIM:176860 OMIM:614514 OMIM:612336 OMIM:613118 ORPHA:82

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

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