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 the intrinsic pathway (HP:0010989)

Parent Node:
Abnormal factor VIII activity (HP:0030976)

..Starting node
..Reduced factor VIII activity (HP:0003125)

Term ID:

3125

Name:

Reduced factor VIII activity

Synonym:

Factor VIII deficiency

Definition:

Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.

Comments:

Reference:

HP:0003125

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased factor VIII activity (HP:0030977)

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:0003125	HP:0003125	Reduced factor VIII activity	0	F8 CL E G H	2157	3546	ORPHA:177926	Bleeding disorder in hemophilia A carriers without FVIII deficiency	HP:0040281 - Very frequent	303
HP:0003125	HP:0003125	Reduced factor VIII activity	0	F8 CL E G H	2157	3546	OMIM:306700	Hemophilia A	.	303
HP:0003125	HP:0003125	Reduced factor VIII activity	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040281 - Very frequent	303
HP:0003125	HP:0003125	Reduced factor VIII activity	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040281 - Very frequent	303
HP:0003125	HP:0003125	Reduced factor VIII activity	0	LMAN1 CL E G H	3998	6631	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	56
HP:0003125	HP:0003125	Reduced factor VIII activity	0	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of	.	56
HP:0003125	HP:0003125	Reduced factor VIII activity	0	MCFD2 CL E G H	90411	18451	ORPHA:35909	Combined deficiency of factor V and factor VIII	HP:0040281 - Very frequent	77
HP:0003125	HP:0003125	Reduced factor VIII activity	0	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0003125	HP:0003125	Reduced factor VIII activity	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4		315
HP:0003125	HP:0003125	Reduced factor VIII activity	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533
HP:0003125	HP:0003125	Reduced factor VIII activity	0	VWF CL E G H	7450	12726	OMIM:277480	Von willebrand disease, type 3	.	533

Genes (5) :F8 LMAN1 MCFD2 SOS1 VWF

Diseases (10) :ORPHA:177926 OMIM:306700 ORPHA:169805 ORPHA:169802 ORPHA:35909 OMIM:227300 OMIM:613625 OMIM:610733 OMIM:193400 OMIM:277480

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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