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Hypersarcosinuria
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HP_0010897 |
[An elevated urinary concentration of sarcosine.] |
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Entamoeba histolytica antibody positive in stool
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HP_0034868 |
[Demonstration of antibody directed against Entamoeba histolytica in stool.] |
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Abnormal circulating sarcosine concentration
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HP_0010898 |
[An deviation from the normal concentration of sarcosine in the blood circulation.] |
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Reduced erythrocyte free porphyrin concentration
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HP_0034869 |
[Concentration of porphyrin in erythrocytes below the lower limit of normal.] |
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Progressive gait ataxia
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HP_0007240 |
[A type of gait ataxia displaying progression of clinical severity.] |
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Morbus Scheuermann
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HP_0010891 |
[A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays).] |
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Recurrent external ophthalmoplegia
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HP_0007250 |
[Alternating and recurrent weakness of the external ocular muscles.] |
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Abnormal circulating branched chain amino acid concentration
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HP_0010892 |
[Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation.] |
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Reduced leukocyte alpha-L-fucosidase activity
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HP_0034860 |
[Concentration or activity of an alpha-L-fucosidase as measured in leukocytes is below the limits of normal.] |
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Abnormal leukocyte enzyme concentration or activity
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HP_0034858 |
[Concentration or activity of an enzyme as measured in leukocytes is above or below the limits of normal.] |
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Morbus Osgood-Schlatter
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HP_0010890 |
[Morbus Osgood-Schlatter is a Juvenile aseptic necrosis affecting the Tuberositas tibiae.] |
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Reduced leukocyte arylsulfatase B activity
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HP_0034861 |
[Concentration or activity of an arylsulfatase B as measured in leukocytes is below the limits of normal.] |
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Reduced leukocyte steroid sulfatase activity
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HP_0034862 |
[Concentration or activity of an arylsulfatase C as measured in leukocytes is below the limits of normal.] |
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Hypersarcosinemia
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HP_0010896 |
[An elevated plasma concentration of sarcosine.] |
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Reduced leukocyte arylsulfatase A activity
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HP_0034863 |
[Concentration or activity of the lysosomal enzyme arylsulfatase A (EC 3.1.6.8) as measured in leukocytes is below the limits of normal.] |
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Abnormal circulating aromatic amino acid concentration
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HP_0004338 |
[Any deviation from the normal concentration of a aromatic amino acid in the blood circulation.] |
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Decreased alpha-galactosidase A activity
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HP_0034864 |
[Activity of the enzyme alpha-galactosidase below the lower limit of normal.] |
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Positive fecal parasite test
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HP_0034865 |
[Demonstration of parasite in stool specimen, e.g., Parasites present on wet mount of stool.e] |
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Breast abscess
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HP_0020225 |
[A circumscribed area of pus or necrotic debris in the breast.] |
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Lymphoid nodular hyperplasia
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HP_0032203 |
[Lymphoid nodular hyperplasia (LNH) of the terminal ileum and colon has been considered a mucosal response to nonspecific stimuli, most often infections, and consequently has been regarded as a pathophysiologic phenomenon during infancy and childhood. LNH can be ascertained by colonoscopy, whereby a lymphoid nodule is defined as an extruding follicle with a diameter of not more than 2 mm, and LNH is defined as a cluster of not more than 10 of such extruding lymphoid nodules (see Figure 1 of PMID:17368236).] |