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Results: 1 to 20 of 44

1.

Coagulation factor II

Prothrombin (622 aa, ~70 kDa) is encoded by the human F2 gene. This protein plays a role in both coagulation and proteolysis of fibrinogen. [from NCI]

MedGen UID:
19527
Concept ID:
C0033706
Pharmacologic Substance
2.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
3.

Coagulation Factor II Human

MedGen UID:
417935
Concept ID:
C2828369
Pharmacologic Substance
4.

Functional disorder

Deranged function in an individual or an organ that is due to a disease. (MedicineNet.com) [from NCI]

MedGen UID:
124450
Concept ID:
C0277785
Pathologic Function
5.

Hereditary factor II deficiency disease

A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of prothrombin, resulting in bleeding. [from NCI]

MedGen UID:
124425
Concept ID:
C0272317
Disease or Syndrome
6.

Factor IX fraction products

MedGen UID:
33819
Concept ID:
C0072434
Pharmacologic Substance
7.

Thrombin

An enzyme formed from PROTHROMBIN that converts FIBRINOGEN to FIBRIN. [from MeSH]

MedGen UID:
11796
Concept ID:
C0040018
Pharmacologic Substance
8.

Fibrinogen

Plasma glycoprotein clotted by thrombin, composed of a dimer of three non-identical pairs of polypeptide chains (alpha, beta, gamma) held together by disulfide bonds. Fibrinogen clotting is a sol-gel change involving complex molecular arrangements: whereas fibrinogen is cleaved by thrombin to form polypeptides A and B, the proteolytic action of other enzymes yields different fibrinogen degradation products. [from MeSH]

MedGen UID:
8832
Concept ID:
C0016006
Pharmacologic Substance
9.

Fibrin

A glycosylated elastic protein produced by the cleavage of fibrinogen by the protease thrombin during blood coagulation. [from NCI]

MedGen UID:
5172
Concept ID:
C0015982
Pharmacologic Substance
10.

Factor II deficiency

MedGen UID:
757624
Concept ID:
C3203356
Disease or Syndrome
11.

Error occurred: cannot get document summary

ID:
462288

12.

Bovine thrombin

MedGen UID:
452981
Concept ID:
C1337342
Pharmacologic Substance
13.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
14.

Prothrombin deficiency, congenital

Prothrombin deficiency is an extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin; it affects about 1 in 2,000,000 individuals. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein. Bleeding symptoms are more variable, depending on the amount of residual functional activity. Variant prothrombin gene alleles can result in 'hypoprothrombinemia' or 'dysprothrombinemia,' and individuals who are compound heterozygous for these 2 types of alleles have variable manifestations. Heterozygous mutation carriers, who have plasma levels between 40 and 60% of normal, are usually asymptomatic, but can show bleeding after tooth extraction or surgical procedures (review by Lancellotti and De Cristofaro, 2009). [from OMIM]

MedGen UID:
5714
Concept ID:
C0020640
Disease or Syndrome
15.

Hemorrhage

Bleeding is the loss of blood. It can happen inside or outside the body. Bleeding can be a reaction to a cut or other wound. It can also result from an injury to internal organs. There are many situations in which you might bleed. A bruise is bleeding under the skin. Some strokes are caused by bleeding in the brain. Other bleeding, such as gastrointestinal bleeding, coughing up blood, or vaginal bleeding, can be a symptom of a disease. Normally, when you bleed, your blood forms clots to stop the bleeding. Severe bleeding may require first aid or a trip to the emergency room. If you have a bleeding disorder, your blood does not form clots normally.  [from MedlinePlus]

MedGen UID:
5503
Concept ID:
C0019080
Pathologic Function
16.

Blood Coagulation Disorders

Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system [from SNOMED CT]

MedGen UID:
604
Concept ID:
C0005779
Disease or Syndrome
17.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
18.

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
19.

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
20.

Rare Diseases

A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000 rare diseases. More than 25 million Americans have one. Rare diseases: -May involve chronic illness, disability, and often premature death. -Often have no treatment or not very effective treatment. -Are frequently not diagnosed correctly. -Are often very complex. -Are often caused by changes in genes. It can be hard to find a specialist who knows how to treat your rare disease. Disease advocacy groups, rare disease organizations, and genetics clinics may help you to find one. NIH: National Institutes of Health.  [from MedlinePlus]

MedGen UID:
146261
Concept ID:
C0678236
Disease or Syndrome

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