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Items: 3

1.

Factor X deficiency

Factor X deficiency is a rare autosomal recessive bleeding disorder showing variable phenotypic severity. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. The disorder can be caused either by reduced levels of the factor X protein or by synthesis of a dysfunctional factor X protein (summary by Millar et al., 2000). [from OMIM]

MedGen UID:
4635
Concept ID:
C0015519
Disease or Syndrome
2.

Reduced factor X activity

Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). [from HPO]

MedGen UID:
506205
Concept ID:
CN007316
Finding
3.

Subdural hemorrhage

Bleeding into the intracranial subdural space [from SNOMED CT]

MedGen UID:
6775
Concept ID:
C0018946
Pathologic Function
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