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ENFarber Lipogranulomatosis (FRBRL)
Alias:
Farber Disease
Acid Ceramidase Deficiency
Ceramidase Deficiency
N-Laurylsphingosine Deacylase Deficiency
Farber's Disease
Ac Deficiency
Frbrl
Acylsphingosine Deacylase Deficiency
Farber's Lipogranulomatosis
Farber-Uzman Syndrome
Acy
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Farber Lipogranulomatosis, also known as farber disease, is related to lipogranulomatosis and combined saposin deficiency, and has symptoms including painful swollen joints An important gene associated with Farber Lipogranulomatosis is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. Affiliated tissues include skin and eye, and related phenotypes are arthritis and flexion contracture
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