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Farber Lipogranulomatosis

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Definition: A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE.      Other names Lipogranulomatosis, Farber; Deficiency, Acid Ceramidase; Ceramidase Deficiency, Acid; Acid Ceramidase Deficiencies; Farber Disease; Acid Ceramidase Deficiency
 
SubstanceCAS Registry & nameCategoriesSource
Farber's disease  0   *Farber Lipogranulomatosis.
ASAH1 protein, human  EC 3.5.1.23   *Acid Ceramidase Farber Lipogranulomatosis.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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