| D003937 |
Diagnosis, Differential |
Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. |
Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis |
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| D005172 |
Factor XI |
Stable blood coagulation factor involved in the intrinsic pathway. The activated form XIa activates factor IX to IXa. Deficiency of factor XI is often called hemophilia C. |
Coagulation Factor XI,Plasma Thromboplastin Antecedent,Blood Coagulation Factor XI,Factor 11,Factor Eleven,Antecedent, Plasma Thromboplastin,Factor XI, Coagulation,Thromboplastin Antecedent, Plasma |
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| D005173 |
Factor XI Deficiency |
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. |
Hemophilia C,Rosenthal Syndrome,Deficiency, Factor 11,Deficiency, Factor Eleven,Deficiency, Factor XI,Factor 11 Deficiency,Factor Eleven Deficiency,Plasma Thromboplastin Antecedent Deficiency,Rosenthal's Syndrome,Deficiencies, Factor 11,Deficiencies, Factor Eleven,Deficiencies, Factor XI,Factor 11 Deficiencies,Factor Eleven Deficiencies,Factor XI Deficiencies,Rosenthal Syndromes,Rosenthal's Syndromes,Rosenthals Syndrome,Syndrome, Rosenthal,Syndrome, Rosenthal's |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D017354 |
Point Mutation |
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. |
Mutation, Point,Mutations, Point,Point Mutations |
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