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1.

Heparin

A highly acidic mucopolysaccharide formed of equal parts of sulfated D-glucosamine and D-glucuronic acid with sulfaminic bridges. The molecular weight ranges from six to twenty thousand. Heparin occurs in and is obtained from liver, lung, mast cells, etc., of vertebrates. Its function is unknown, but it is used to prevent blood clotting in vivo and vitro, in the form of many different salts. [from MeSH]

MedGen UID:
42413
Concept ID:
C0019134
Biologically Active Substance; Carbohydrate; Organic Chemical; Pharmacologic Substance
2.

Venous thrombosis

Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. [from HPO]

MedGen UID:
22631
Concept ID:
C0042487
Pathologic Function
3.

Thrombosis

The formation of a blood clot in the lumen of a vessel or heart chamber; causes include coagulation disorders and vascular endothelial injury. [from NCI]

MedGen UID:
21160
Concept ID:
C0040053
Pathologic Function
4.

Thrombin

Thrombin. Accelerates clotting.  [from HL7]

MedGen UID:
11796
Concept ID:
C0040018
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
5.

Bovine thrombin

MedGen UID:
452981
Concept ID:
C1337342
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
6.

Heparin Binding

Heparin Binding involves a biophysical interaction between a biological molecule, such as a protein, and heparin, a sulfated glycosaminoglycan of mixed polysaccharide nature, varying in molecular weight, and released by mast cells and basophils in many tissues. Lipotrophic by activation of lipoprotein lipase, anticoagulant heparin also binds to and enhances antithrombin III activity and inhibits several coagulation factors. [from NCI]

MedGen UID:
218856
Concept ID:
C1148608
Molecular Function
7.

Thrombophilia

Prothrombin-related thrombophilia is characterized by venous thromboembolism (VTE) manifest most commonly in adults as deep-vein thrombosis (DVT) in the legs or pulmonary embolism. The clinical expression of prothrombin-related thrombophilia is variable; many individuals heterozygous or homozygous for the 20210G>A (G20210A or c.*97G>A) allele in F2 never develop thrombosis, and while most heterozygotes who develop thrombotic complications remain asymptomatic until adulthood, some have recurrent thromboembolism before age 30 years. The relative risk for DVT in adults heterozygous for the 20210G>A allele is two- to fivefold increased; in children, the relative risk for thrombosis is three- to fourfold increased. 20210G>A heterozygosity has at most a modest effect on recurrence risk after a first episode. Although prothrombin-related thrombophilia may increase the risk for pregnancy loss, its association with preeclampsia and other complications of pregnancy such as intrauterine growth restriction and placental abruption remains controversial. Factors that predispose to thrombosis in prothrombin-related thrombophilia include: the number of 20210G>A alleles; presence of coexisting genetic abnormalities including factor V Leiden; and acquired thrombophilic disorders (e.g., antiphospholipid antibodies). Circumstantial risk factors for thrombosis include pregnancy and oral contraceptive use. Some evidence suggests that the risk for VTE in 20210G>A heterozygotes increases after travel. [from GeneReviews]

MedGen UID:
98306
Concept ID:
C0398623
Disease or Syndrome
8.

Factor IX

Storage-stable blood coagulation factor acting in the intrinsic pathway. Its activated form, IXa, forms a complex with factor VIII and calcium on platelet factor 3 to activate factor X to Xa. Deficiency of factor IX results in HEMOPHILIA B (Christmas Disease). [from MeSH]

MedGen UID:
41950
Concept ID:
C0015491
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
9.

Hereditary factor IX deficiency disease

Hemophilia B is characterized by deficiency in factor IX clotting activity that results in prolonged oozing after injuries, tooth extractions, or surgery, and delayed or recurrent bleeding prior to complete wound healing. The age of diagnosis and frequency of bleeding episodes are related to the level of factor IX clotting activity. In individuals with severe hemophilia B, spontaneous joint or deep-muscle bleeding is the most frequent sign. Individuals with severe hemophilia B are usually diagnosed during the first two years of life; without prophylactic treatment, they may average up to two to five spontaneous bleeding episodes each month. Individuals with moderate hemophilia B seldom have spontaneous bleeding; however, they do have prolonged or delayed oozing after relatively minor trauma and are usually diagnosed before age five to six years; the frequency of bleeding episodes varies from once a month to once a year. Individuals with mild hemophilia B do not have spontaneous bleeding episodes; however, without pre- and postoperative treatment, abnormal bleeding occurs with surgery or tooth extractions; the frequency of bleeding may vary from once a year to once every ten years. Individuals with mild hemophilia B are often not diagnosed until later in life. In any individual with hemophilia B, bleeding episodes may be more frequent in childhood and adolescence than in adulthood. Approximately 30% of heterozygous females have factor IX clotting activity lower than 40% and are at risk for bleeding (even if the affected family member has mild hemophilia B), although symptoms are usually mild. After major trauma or invasive procedures, prolonged or excessive bleeding usually occurs, regardless of severity. [from GeneReviews]

MedGen UID:
945
Concept ID:
C0008533
Disease or Syndrome
10.

hemophilia

MedGen UID:
879943
Concept ID:
CN235333
Finding
11.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
12.

Hemophilia

Hemophilia is a bleeding disorder that slows the blood clotting process. People with this condition experience prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.The major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty.
[from GHR]

MedGen UID:
146334
Concept ID:
C0684275
Disease or Syndrome
13.

X-linked hereditary disease

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. [from MeSH]

MedGen UID:
222910
Concept ID:
C1138434
Disease or Syndrome
14.

Thrombostat

MedGen UID:
196178
Concept ID:
C0702033
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
15.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
16.

Blood Coagulation Disorders, Inherited

Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation. [from MeSH]

MedGen UID:
163105
Concept ID:
C0852077
Disease or Syndrome
17.

Thrombinar

MedGen UID:
152360
Concept ID:
C0702032
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
18.

Coagulation Protein Disorders

Hemorrhagic and thrombotic disorders resulting from abnormalities or deficiencies of coagulation proteins. [from MeSH]

MedGen UID:
108723
Concept ID:
C0600503
Disease or Syndrome
19.

vessel (polysaccharide)

MedGen UID:
56099
Concept ID:
C0148346
Carbohydrate; Organic Chemical; Pharmacologic Substance
20.

Endopeptidases

nonEC category which corresponds to EC 3.4.21, EC 3.4.22, EC 3.4.23, EC 3.4.24, and EC 3.4.99. [from CRISP]

MedGen UID:
45389
Concept ID:
C0030946
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
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