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Brainstem lucency
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HP_0025741 |
[A lesion located in the brainstem that appears areas less dense on magnetic resonance imaging or lighter on computed tomography.] |
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Elevated urine L-xylulose level
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HP_0025742 |
[The amount of L-xylulose in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Elevated brain succinate level by MRS
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HP_0025740 |
[An increase in the level of succinate in the brain identified by magnetic resonance spectroscopy (MRS).] |
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Short nail
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HP_0001799 |
[Decreased length of nail.] |
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Diminished urine glutamine level
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HP_0025746 |
[The amount of glutamine in the urine, normalized for urine concentration, is below the lower limit of normal.] |
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Elevated urine biliverdin level
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HP_0025743 |
[The amount of biliverdin in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Elevated urine dodecanedioic acid level
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HP_0025744 |
[The amount of dodecanedioic acid in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Nonimmune hydrops fetalis
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HP_0001790 |
[A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens .] |
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Fetal ascites
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HP_0001791 |
[Accumulation of fluid in the peritoneal cavity during the fetal period.] |
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Abnormality of tumor necrosis factor secretion
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HP_0011118 |
[An abnormality in the production or cellular release of tumor necrosis factor.] |
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Abnormality of cytokine secretion
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HP_0011113 |
[An abnormality in the production or cellular release of a cytokine (i.e., any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells).] |
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Abnormal immune serum protein physiology
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HP_0011111 |
[An abnormality of the concentration or function of circulating immune proteins.] |
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mitochondrial translational initiation
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GO_0070124 |
[The process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. This includes the formation of a complex of the ribosome, mRNA, and an initiation complex that contains the first aminoacyl-tRNA.] |
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Recurrent tonsillitis
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HP_0011110 |
[Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.] |
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mitochondrial translational elongation
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GO_0070125 |
[The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in a mitochondrion.] |
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Abnormal circulating chemokine concentration
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HP_0011115 |
[An abnormality in the production or cellular release of a chemokine (a class of cytokines).] |
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mitochondrial translational termination
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GO_0070126 |
[The process resulting in the release of a polypeptide chain from the ribosome in a mitochondrion, usually in response to a termination codon (note that mitochondria use variants of the universal genetic code that differ between different taxa).] |
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C4-dicarboxylic acid
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CHEBI_66873 |
[Any dicarboxylic acid that contains four carbon atoms.] |
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carnosinate
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CHEBI_66874 |
[An N-acyl-L-alpha-amino acid anion that is the conjugate base of carnosine, obtained by deprotonation of the carboxy group.] |
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Defective production of NFKB1-dependent cytokines
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HP_0011114 |
[An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha.] |