Human Phenotype Ontology

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:
Abnormality of the common coagulation pathway (HP:0010990)

Parent Node:
Abnormal coagulation factor V activity (HP:0031899)

..Starting node
..Reduced coagulation factor V activity (HP:0003225)

Term ID:

3225

Name:

Reduced coagulation factor V activity

Synonym:

Factor V deficiency; Reduced factor V activity

Definition:

Decreased activity of coagulation factor V.

Comments:

Reference:

HP:0003225

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated coagulation factor V activity (HP:0011996)

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:0003225	HP:0003225	Reduced coagulation factor V activity	0	F5 CL E G H	2153	3542	OMIM:227400	Factor V deficiency	.	159
HP:0003225	HP:0003225	Reduced coagulation factor V 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:0003225	HP:0003225	Reduced coagulation factor V activity	0	LMAN1 CL E G H	3998	6631	OMIM:227300	Factor V and factor VIII, combined deficiency of	.	56
HP:0003225	HP:0003225	Reduced coagulation factor V 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:0003225	HP:0003225	Reduced coagulation factor V activity	0	MCFD2 CL E G H	90411	18451	OMIM:613625	Factor V and factor VIII, combined deficiency of		77
HP:0003225	HP:0003225	Reduced coagulation factor V activity	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110

Genes (4) :F5 LMAN1 MCFD2 SLC37A4

Diseases (5) :OMIM:227400 ORPHA:35909 OMIM:227300 OMIM:613625 OMIM:619525

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