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skos:definition |
MSH: A 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.,JABL: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.,NCI: A rare inherited syndrome caused by mutations in the WFS1 and CISD2 genes. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
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