" /> Hepatolenticular Degeneration - CISMeF





Preferred Label : Hepatolenticular Degeneration;

NCIt synonyms : Wilson's Disease; Wilson Disease;

NCIt definition : A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations.;

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31/07/2025


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