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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease maturity-onset diabetes of the young
Comorbidity C0023801|lipomatosis
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PubMedID- 21784842 Cel-maturity onset diabetes of the young (mody), diabetes with pancreatic lipomatosis and exocrine dysfunction, is due to dominant frameshift mutations in the acinar cell carboxyl ester lipase gene (cel).

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