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 coagulation cascade (HP:0003256)

Parent Node:
Abnormality of the extrinsic pathway (HP:0010988)

..Starting node
..Reduced factor VII activity (HP:0008169)

Term ID:

8169

Name:

Reduced factor VII activity

Synonym:

Factor VII deficiency

Definition:

Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.

Comments:

Reference:

HP:0008169

Genes and Diseases:

Child Nodes:

Sister Nodes:

Reduced antithrombin III activity (HP:0001976)

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:0008169	HP:0008169	Reduced factor VII activity	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent	31
HP:0008169	HP:0008169	Reduced factor VII activity	0	F7 CL E G H	2155	3544	OMIM:227500	Factor VII deficiency	.	70
HP:0008169	HP:0008169	Reduced factor VII activity	0	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0008169	HP:0008169	Reduced factor VII activity	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0008169	HP:0008169	Reduced factor VII activity	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0008169	HP:0008169	Reduced factor VII activity	0	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2	.	25

Genes (5) :AHCY F7 GGCX SLC37A4 VKORC1

Diseases (6) :ORPHA:88618 OMIM:227500 OMIM:610842 OMIM:277450 OMIM:619525 OMIM:607473

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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