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... > disease > nervous system diseases > central nervous system diseases > cerebral disorder > sphingolipidosis > Farber disease
disease > metabolic diseases > lipoidosis > sphingolipidosis > Farber disease
disease > enzymopathy > sphingolipidosis > Farber disease
... > disease > genetic disease > hereditary disease > lysosomal storage disease > sphingolipidosis > Farber disease
disease > metabolic diseases > lysosomal storage disease > sphingolipidosis > Farber disease
disease > enzymopathy > lysosomal storage disease > sphingolipidosis > Farber disease

Preferred term

Farber disease  

Definition

  • Farber disease (also known as Farber's lipogranulomatosis, ceramidase deficiency, "Fibrocytic dysmucopolysaccharidosis," and "Lipogranulomatosis") is an extremely rare (80 cases reported worldwide to this day) autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase that causes an accumulation of fatty material sphingolipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system. (Wikipedia)

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URI

http://data.loterre.fr/ark:/67375/VH8-T2GC5N8J-S

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