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Anomalous rib insertion to vertebrae
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HP_0006593 |
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Positionally dependent pain
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HP_4000182 |
[Pain improves or worsens with changes in body position.] |
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Absent glenoid fossa
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HP_0006591 |
[Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus.] |
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Reduced erythrocyte adenosine triphosphate concentration
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HP_4000184 |
[Concentration of adenosine triphosphate (ATP) in red blood cells (erythrocytes) below the lower limit of normal.] |
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EC 6.* (ligase) inhibitor
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CHEBI_75603 |
[Any enzyme inhibitor that interferes with the action of a ligase (EC 6.*.*.*). Ligases are enzymes that catalyse the joining of two molecules with concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate.] |
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Reduced cell surface marker level
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HP_0031551 |
[Reduced level of a protein that is normally present on the cell surface as assessed by flow cytometry.] |
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Reduced granulocyte CD55 level
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HP_0031554 |
[Reduced level of CD55 on the granulocyte surface as assessed by flow cytometry.] |
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Abnormal flow cytometry test result
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HP_0031550 |
[Any abnormal result of flow cytometry, a method that suspends cells in a stream of fluid and passes them through an electronic detection apparatus in order to assess cell count or measure biomarkers or surface molecules.] |
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Anti-platelet antigen antibody positivity
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HP_4000170 |
[The presence of autoantibodies (immunoglobulins) in the serum that react against antigens present on the surface of thrombocytes such as the glycoproteins GPIIb/IIIa, GPIb/IX, and GPIa/IIa.] |
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Follicular infundibulum tumor
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HP_0031548 |
[A cutaneous adnexal neoplasm with variable clinical presentation. It tends to be located in the head and neck and the presentation is papulonodular, scaly, asymptomatic, measuring up to 1-2cm, simulating a basal cell carcinoma.] |
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Lymphocytoma cutis
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HP_0031549 |
[Lymphocytoma cutis, or Spiegler-Fendt sarcoid, is classed as one of the pseudolymphomas, referring to inflammatory disorders in which the accumulation of lymphocytes on the skin resemble, clinically and histopathologically, cutaneous lymphomas. Careful clinical evaluation, histopathological and immunohistochemical exams may be needed to make the correct diagnosis.] |
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fat-soluble vitamin (role)
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CHEBI_24020 |
[Any vitamin that dissolves in fats and are stored in body tissues. Unlike the water-soluble vitamins, they are stored in the body for long periods of time and generally pose a greater risk for toxicity when consumed in excess.] |
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Elevated circulating palmitoleylcarnitine concentration
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HP_0031544 |
[An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency.] |
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Abnormally low T cell receptor excision circle level
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HP_0031545 |
[Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.] |
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Ameliorated by niacin
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HP_4000175 |
[Applies to a sign or symptom that is improved or made more bearable by ingesting niacin (vitamin B3).] |
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Anti-retroviral therapy exposure
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HP_4000178 |
[History of having been treated with an antiretroviral agent.] |
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Bleeding ameliorated by vitamin K
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HP_4000177 |
[Applies to bleeding that is significantly reduced by treatment with vitamin K.] |
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Vegan diet
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HP_4000172 |
[A history of following a vegan diet characterized by avoidance of food sourced from animals including meat, fish, and dairy products.] |
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Anti-voltage-gated potassium channel antibody positivity
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HP_4000171 |
[The presence of autoantibodies (immunoglobulins) in the serum that react against a voltage-gated potassium channel.] |
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Ameliorated by potassium supplements
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HP_4000174 |
[Applies to a sign or symptom that is improved or made more bearable by ingesting a potassium supplement.] |