Farber lipogranulomatosis (DOID:0050464)
Alliance: disease page
Synonyms: acid ceramidase deficiency; Farber disease; N-laurylsphingosine deacylase deficiency
Alt IDs: OMIM:228000, MESH:D055577, NCI:C84710, UMLS_CUI:C0268255
Definition: A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition.