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Items: 3

1.

Coagulation factor VII

Coagulation factor VII (466 aa, ~52 kDa) is encoded by the human F7 gene. This protein is involved in both binding to tissue factor and the initiation of blood coagulation. [from NCI]

MedGen UID:
8768
Concept ID:
C0015502
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
2.

hemophilia

MedGen UID:
879943
Concept ID:
CN235333
Finding
3.

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 GTR]

MedGen UID:
146334
Concept ID:
C0684275
Disease or Syndrome
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