Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 coagulation cascade (HP:0003256)

Parent Node:
Abnormality of the intrinsic pathway (HP:0010989)

..Starting node
..Reduced factor IX activity (HP:0011858)

Term ID:

11858

Name:

Reduced factor IX activity

Synonym:

Low factor IX activity

Definition:

Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.

Comments:

Reference:

HP:0011858

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal factor VIII activity (HP:0030976)

Reduced antithrombin III activity (HP:0001976)

Reduced factor XI activity (HP:0001929)

Reduced factor XII activity (HP:0004841)

Reduced kininogen activity (HP:0005527)

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:0011858	HP:0011858	Reduced factor IX activity	0	F9 CL E G H	2158	3551	OMIM:306900	Hemophilia B	.	143
HP:0011858	HP:0011858	Reduced factor IX activity	0	GGCX CL E G H	2677	4247	OMIM:610842	PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY		129
HP:0011858	HP:0011858	Reduced factor IX activity	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0011858	HP:0011858	Reduced factor IX activity	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0011858	HP:0011858	Reduced factor IX activity	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0011858	HP:0011858	Reduced factor IX activity	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0011858	HP:0011858	Reduced factor IX activity	0	VKORC1 CL E G H	79001	23663	OMIM:607473	Vitamin K-dependent clotting factors, combined deficiency of, 2	.	25

Genes (6) :F9 GGCX MGAT2 PMM2 SLC37A4 VKORC1

Diseases (7) :OMIM:306900 OMIM:610842 OMIM:277450 OMIM:212066 ORPHA:79318 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.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen