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 common coagulation pathway (HP:0010990)

..Starting node
..Reduced factor XIII activity (HP:0008357)

Term ID:

8357

Name:

Reduced factor XIII activity

Synonym:

Definition:

Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot.

Comments:

Reference:

HP:0008357

Genes and Diseases:

Child Nodes:

........

Factor XIII subunit A deficiency (HP:0040233)

........

Factor XIII subunit B deficiency (HP:0040234)

Sister Nodes:

Abnormal coagulation factor V activity (HP:0031899)

Abnormality of circulating fibrinogen (HP:0011898)

Decreased level of heparin co-factor II (HP:0040226)

Decreased level of histidine-rich glycoprotein (HP:0040227)

Decreased level of plasminogen (HP:0040228)

Decreased level of thrombomodulin (HP:0040229)

Decreased level of tissue plasminogen activator (HP:0040230)

Increased plasma vitamin K epoxide after vitamin K supplementation (HP:0040239)

Prolonged Russell's viper venom time (HP:0040244)

Reduced alpha-2-antiplasmin activity (HP:0040245)

Reduced antithrombin antigen (HP:0040246)

Reduced factor X activity (HP:0008321)

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:0008357	HP:0008357	Reduced factor XIII activity	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0008357	HP:0008357	Reduced factor XIII activity	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040281 - Very frequent	60
HP:0008357	HP:0008357	Reduced factor XIII activity	0	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of	.	60
HP:0008357	HP:0008357	Reduced factor XIII activity	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040281 - Very frequent	32
HP:0008357	HP:0008357	Reduced factor XIII activity	0	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency	.	32
HP:0008357	HP:0008357	Reduced factor XIII activity	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0008357	HP:0008357	Reduced factor XIII activity	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291
HP:0008357	HP:0008357	Reduced factor XIII activity	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W		110
HP:0008357	HP:0040233	Factor XIII subunit A deficiency	1	F13A1 CL E G H	2162	3531	OMIM:613225	Factor XIII, A subunit, deficiency of		60
HP:0008357	HP:0040234	Factor XIII subunit B deficiency	1	F13B CL E G H	2165	3534	OMIM:613235	Factor XIIIB deficiency		32

Genes (6) :BRAF F13A1 F13B MAP2K1 PTPN11 SLC37A4

Diseases (5) :OMIM:163950 ORPHA:331 OMIM:613225 OMIM:613235 OMIM:619525

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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