Farber disease
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dis·sem·i·nat·ed lip·o·gran·u·lo·ma·to·sis
[MIM*228000]a form of mucolipidosis that develops soon after birth because of a deficiency of ceramidase; characterized by swollen joints, subcutaneous nodules, lymphadenopathy, and accumulation in lysosomes of affected cells of PAS-positive lipid consisting of ceramide.
Synonym(s): Farber disease, Farber syndrome
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Farber disease
(far'ber) [Sidney Farber, U.S. pediatric pathologist, 1903–1973]
A rare autosomal recessive lysosomal storage disease in which abnormal by-products of lipid metabolism accumulate in the brain. It is one of the lipid storage diseases, which include Gaucher's disease and Niemann-Pick disease.
Synonym: ceramidase deficiencyMedical Dictionary, © 2009 Farlex and Partners
Farber,
Sidney, U.S. pediatric pathologist, 1903-1973.Farber disease - a form of mucolipidosis, developing soon after birth because of deficiency of ceramidase. Synonym(s): disseminated lipogranulomatosis; Farber syndrome
Farber syndrome - Synonym(s): Farber disease
Medical Eponyms © Farlex 2012