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Abnormal platelet count
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HP_0011873 |
[Abnormal number of platelets per volume of blood. In a healthy adult, a normal platelet count is between 150,000 and 450,000 per microliter of blood.] |
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Abnormality of neutrophils
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HP_0001874 |
[A neutrophil abnormality.] |
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olefinic compound
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CHEBI_78840 |
[Any organic molecular entity that contains at least one C=C bond.] |
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Abnormal total neutrophil count
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HP_0011991 |
[A deviation from the normal range of neutrophil cell counts in the circulation.] |
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Upper eyelid erythema
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HP_0025822 |
[Redness of the skin of the upper eyelid, caused by hyperemia of the capillaries in the lower layers of the skin.] |
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Acroosteolysis of distal phalanges (feet)
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HP_0001870 |
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Foot acroosteolysis
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HP_0001842 |
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Positive provocative functional shoulder test
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HP_0025823 |
[Abnormal result of a physical test of the shoulder that attempts to provoke pain in order to diagnosis a specific injury.] |
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Offspring of consanguineous relationship
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HP_0025820 |
[The parents of the index patient are related as second cousins or closer.] |
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Lower eyelid erythema
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HP_0025821 |
[Redness of the skin of the lower eyelid, caused by hyperemia of the capillaries in the lower layers of the skin.] |
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Abnormality of thrombocytes
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HP_0001872 |
[An abnormality of platelets.] |
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Severely decreased neutrophil count
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HP_0025826 |
[Severe decrease in circulating neutrophils, usually characterized as fewer than 500 neutrophils per microlitre.] |
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Abnormal Th1 T cell proportion
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HP_0025827 |
[Abnormal increase or decrease of Th1 cells, commonly characterized through the intracellular synthesis of IFNg or surface expression of CXCR3, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies or the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin. Length of incubation and strength of stimulation may vary between laboratories.] |
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Decreased neutrophil phagocytosis
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HP_0025824 |
[Abnormal decrease of neutrophil phagocytic activity, commonly measured after stimulation with E. coli using flow cytometry.] |
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Decreased neutrophil adhesion
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HP_0025825 |
[Abnormal decrease of neutrophil adhesion capacity, commonly measured as surface expression of CD18, CD11a or CD11b using flow cytometry.] |
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Anemia due to reduced life span of red cells
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HP_0011895 |
[A type of anemia related to a reduction in the average life span of red blood cells in the peripheral circulation, which is normally around 120 days.] |
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Increased Th1 T cell proportion
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HP_0025828 |
[Abnormal increase of Th1 cells, commonly characterized through the intracellular synthesis of IFNg or surface expression of CXCR3, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies or the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin. Length of incubation and strength of stimulation may vary between laboratories.] |
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Decreased Th1 T cell proportion
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HP_0025829 |
[Abnormal decrease of Th1 cells, commonly characterized through the intracellular synthesis of IFNg or surface expression of CXCR3, measured as proportion of total CD3+CD4+ T cells, usually after stimulation. The stimulation is usually unspecific and may include the use of anti-CD3 beads or antibodies or the use of phorbol-12-myristate-13-acetate (PMA) with ionomycin. Length of incubation and strength of stimulation may vary between laboratories.] |
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Short 2nd toe
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HP_0001885 |
[Underdevelopment (hypoplasia) of the second toe.] |
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Foot osteomyelitis
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HP_0001886 |
[An infection of bone of the foot.] |