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Items: 1 to 20 of 27

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; Organic Chemical; Pharmacologic Substance
2.

Serine

Amino acid with side chain -CH2OH. [from NCI_CRCH]

MedGen UID:
11382
Concept ID:
C0036720
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
3.

Antithrombin III

Antithrombin-III (464 aa, ~53 kDa) is encoded by the human SERPINC1 gene. This protein is involved in the negative regulation of serine proteinase activity during blood coagulation. [from NCI]

MedGen UID:
1993
Concept ID:
C0003438
Amino Acid, Peptide, or Protein; Pharmacologic Substance
4.

Abnormal

Deviating in any way from the state, position, structure, condition, behavior, or rule which is considered a norm. (NCI) [from NCI_CDISC]

MedGen UID:
59964
Concept ID:
C0205161
Finding
5.

Antithrombins

endogenous family of proteins belonging to the serpin superfamily that neutralizes the action of thrombin; includes fibrin and antithrombin III. [from CRISP]

MedGen UID:
354
Concept ID:
C0003440
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
6.

ph+++

MedGen UID:
623899
Concept ID:
C0450409
Finding
7.

ph++

MedGen UID:
623898
Concept ID:
C0450408
Finding
8.

ph+

MedGen UID:
623897
Concept ID:
C0450407
Finding
9.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
10.

Heterogeneous

The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992) [from MeSH]

MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
11.

Antithrombin Proteins

An endogenous family of proteins belonging to the serpin superfamily that neutralizes the action of thrombin. Six naturally occurring antithrombins have been identified and are designated by Roman numerals I to VI. Of these, Antithrombin I (see FIBRIN) and ANTITHROMBIN III appear to be of major importance. [from MeSH]

MedGen UID:
422377
Concept ID:
C2936528
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
12.

Atenativ

MedGen UID:
303933
Concept ID:
C1448439
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
13.

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
14.

Liquaemin

MedGen UID:
147194
Concept ID:
C0700894
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
15.

Kybernin

MedGen UID:
136413
Concept ID:
C0651143
Amino Acid, Peptide, or Protein; Pharmacologic Substance
16.

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
17.

Antithrombin III deficiency

Deficiency of antithrombin III is a major risk factor for venous thromboembolic disease. Two categories of AT-III deficiency have been defined on the basis of AT-III antigen levels in the plasma of affected individuals. The majority of AT-III deficiency families belong in the type I (classic) deficiency group and have a quantitatively abnormal phenotype in which antigen and heparin cofactor levels are both reduced to about 50% of normal. The second category of AT-III deficiency has been termed type II (functional) deficiency. Affected individuals from these kindreds produce dysfunctional AT-III molecules; they have reduced heparin cofactor activity levels (about 50% of normal) but levels of AT-III antigen are often normal or nearly normal (summary by Bock and Prochownik, 1987). The 2 categories of antithrombmin III deficiency have been classified further. Type I (low functional and immunologic antithrombin) has been subdivided into subtype Ia (reduced levels of normal antithrombin), and type Ib (reduced levels of antithrombin and the presence of low levels of a variant). Type II (low functional but normal immunologic antithrombin) has been subdivided into subtype IIa (functional abnormalities affecting both the reactive site and the heparin-binding site of AT3); subtype IIb (functional abnormalities limited to the reactive site); and subtype IIc (functional abnormalities limited to the heparin-binding site) (summary by Lane et al., 1992). [from OMIM]

MedGen UID:
75781
Concept ID:
C0272375
Disease or Syndrome
18.

Serpin

Irreversible serine proteinase inhibitors that exert their action on peptidases. Serpins can be localized inside, or outside of the cell, and are found in all groups of organisms with the exception of fungi. In human plasma, serpins represent approximately 2% of the total protein present. [from NCI]

MedGen UID:
48634
Concept ID:
C0036764
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
19.

Polysaccharide

linear or branched chain structure containing many sugar molecules linked by glycosidic bonds. [from CRISP]

MedGen UID:
46014
Concept ID:
C0032594
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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