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Abnormal urinary guanosine level
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HP_0040423 |
[The amount of guanosine in the urine, normalized for urine concentration, is outside the limits of normal.] |
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Elevated urinary guanosine level
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HP_0040424 |
[The amount of guanosine in the urine, normalized for urine concentration, is above the upper limit of normal.] |
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Axonal loss
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HP_0003447 |
[A reduction in the number of axons in the peripheral nervous system.] |
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Muscle spasm
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HP_0003394 |
[Sudden and involuntary contractions of one or more muscles.] |
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Decreased sensory nerve conduction velocity
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HP_0003448 |
[Reduced speed of conduction of the action potential along a sensory nerve.] |
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Decreased size of nerve terminals
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HP_0003443 |
[A reduction in the size of nerve terminals.] |
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EMG: neuropathic changes
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HP_0003445 |
[The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).] |
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EMG: chronic denervation signs
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HP_0003444 |
[Evidence of chronic denervation on electromyography.] |
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vitamin metabolic process
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GO_0006766 |
[The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems.] |
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Horizontal sacrum
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HP_0003440 |
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EMG: myopathic abnormalities
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HP_0003458 |
[The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.] |
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amino acid chain
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PR_000018263 |
[A molecule that consists of amino acid residues (unmodified amino-acid residues and/or modified amino-acid residues) linked by peptide bonds or derivatives of such bonds.] |
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Polyclonal elevation of IgM
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HP_0003459 |
[A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis.] |
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Platelet antibody positive
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HP_0003454 |
[The presence in the serum of autoantibodies directed against thrombocytes.] |
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Low urinary cyclic AMP response to PTH administration
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HP_0003456 |
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vitamin A metabolic process
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GO_0006776 |
[The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene.] |
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retinoid metabolic process
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GO_0001523 |
[The chemical reactions and pathways involving retinoids, any member of a class of isoprenoids that contain or are derived from four prenyl groups linked head-to-tail. Retinoids include retinol and retinal and structurally similar natural derivatives or synthetic compounds, but need not have vitamin A activity.] |
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Increased circulating iron concentration
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HP_0003452 |
[The concentration of iron in the blood circulation is above the upper limit of normal.] |
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Increased rate of premature chromosome condensation
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HP_0003451 |
[An increased rate of premature chromosome condensation.] |
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Abnormality of chromosome condensation
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HP_0011019 |
[An abnormality of chromosome condensation.] |