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 antithrombin antigen (HP:0040246)

Term ID:

40246

Name:

Reduced antithrombin antigen

Synonym:

Definition:

Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation.

Comments:

Reference:

HP:0040246

Genes and Diseases:

Child Nodes:

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 factor X activity (HP:0008321)

Reduced factor XIII activity (HP:0008357)

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:0040246	HP:0040246	Reduced antithrombin antigen	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0040246	HP:0040246	Reduced antithrombin antigen	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional	66
HP:0040246	HP:0040246	Reduced antithrombin antigen	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040281 - Very frequent	51
HP:0040246	HP:0040246	Reduced antithrombin antigen	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040281 - Very frequent	88

Genes (4) :ALG12 ALG6 MPI SERPINC1

Diseases (4) :ORPHA:79324 ORPHA:79320 ORPHA:79319 ORPHA:82

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