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Bardet-Biedl Syndrome
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D020788 |
[An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
] |
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Hordeolum
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C01.375.354.400 |
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Factor V Deficiency
|
D005166 |
[A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's disease or parahemophilia. It varies greatly in severity. Factor V deficiency is an autosomal recessive trait. (Dorland, 27th ed)
] |
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Central Nervous System Vascular Malformations
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D020785 |
[Congenital, inherited, or acquired abnormalities involving ARTERIES; VEINS; or venous sinuses in the BRAIN; SPINAL CORD; and MENINGES.
] |
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Factor VII
|
D005167 |
[Heat- and storage-stable plasma protein that is activated by tissue thromboplastin to form factor VIIa in the extrinsic pathway of blood coagulation. The activated form then catalyzes the activation of factor X to factor Xa.
] |
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Hemangioma, Cavernous, Central Nervous System
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D020786 |
[A vascular anomaly composed of a collection of large, thin walled tortuous VEINS that can occur in any part of the central nervous system but lack intervening nervous tissue. Familial occurrence is common and has been associated with a number of genes mapped to 7q, 7p and 3q. Clinical features include SEIZURES; HEADACHE; STROKE; and progressive neurological deficit.
] |
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Factor VII Deficiency
|
D005168 |
[An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN K DEFICIENCY. FACTOR VII is a Vitamin K dependent glycoprotein essential to the extrinsic pathway of coagulation.
] |
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Nevus, Intradermal
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C04.557.665.560.590 |
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Matrix Metalloproteinase 7
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D020783 |
[The smallest member of the MATRIX METALLOPROTEINASES. It plays a role in tumor progression.
] |
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Factor VIII
|
D005169 |
[Factor VIII of blood coagulation. Antihemophilic factor that is part of the factor VIII/von Willebrand factor complex. Factor VIII is produced in the liver and acts in the intrinsic pathway of blood coagulation. It serves as a cofactor in factor X activation and this action is markedly enhanced by small amounts of thrombin.
] |
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Matrix Metalloproteinase 8
|
D020784 |
[A member of the MATRIX METALLOPROTEINASES that cleaves triple-helical COLLAGEN types I, II, and III.
] |
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Chrysophyta
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B01.750.150 |
|
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Factor XI Deficiency
|
D005173 |
[A hereditary deficiency of blood coagulation factor XI (also known as plasma thromboplastin antecedent or PTA or antihemophilic factor C) resulting in a systemic blood-clotting defect called hemophilia C or Rosenthal's syndrome, that may resemble classical hemophilia.
] |
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Factor XII
|
D005174 |
[Stable blood coagulation factor activated by contact with the subendothelial surface of an injured vessel. Along with prekallikrein, it serves as the contact factor that initiates the intrinsic pathway of blood coagulation. Kallikrein activates factor XII to XIIa. Deficiency of factor XII, also called the Hageman trait, leads to increased incidence of thromboembolic disease. Mutations in the gene for factor XII that appear to increase factor XII amidolytic activity are associated with HEREDITARY ANGIOEDEMA TYPE III.
] |
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Factor XII Deficiency
|
D005175 |
[An absence or reduced level of blood coagulation factor XII. It normally occurs in the absence of patient or family history of hemorrhagic disorders and is marked by prolonged clotting time.
] |
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Factor XIII
|
D005176 |
[A fibrin-stabilizing plasma enzyme (TRANSGLUTAMINASES) that is activated by THROMBIN and CALCIUM to form FACTOR XIIIA. It is important for stabilizing the formation of the fibrin polymer (clot) which culminates the coagulation cascade.
] |
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Murine pneumonia virus
|
D029122 |
[A species of the genus PNEUMOVIRUS causing pneumonia in mice.
] |
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Factor X
|
D005170 |
[Storage-stable glycoprotein blood coagulation factor that can be activated to factor Xa by both the intrinsic and extrinsic pathways. A deficiency of factor X, sometimes called Stuart-Prower factor deficiency, may lead to a systemic coagulation disorder.
] |
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Glucose Oxidase
|
D08.811.682.047.239 |
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Factor X Deficiency
|
D005171 |
[Blood coagulation disorder usually inherited as an autosomal recessive trait, though it can be acquired. It is characterized by defective activity in both the intrinsic and extrinsic pathways, impaired thromboplastin time, and impaired prothrombin consumption.
] |
