Farber disease (Q53203)

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Farber disease is one of the rarest forms of lysosomal disease with high clinical variability. The most frequent signs are: periarticular subcutaneous nodules, contractures (which account for painful clinical examination), hoarseness, neurological symptoms, and sometimes hepatosplenomegaly.
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    Farber disease
    Farber disease is one of the rarest forms of lysosomal disease with high clinical variability. The most frequent signs are: periarticular subcutaneous nodules, contractures (which account for painful clinical examination), hoarseness, neurological symptoms, and sometimes hepatosplenomegaly.

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