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Wolframov syndróm

  1. Subject h.Wolframov syndróm
    Subject h.Wolfram Syndrome
    Entry termsDIDMOAD
    DIDMOAD syndróm
    English X referencesDIDMOAD
    DIDMOAD Syndrome
    Scope note in EnglishA hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
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Number of the records: 1  

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