Term Name: | Farber lipogranulomatosis |
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Synonyms: | acid ceramidase deficiency, Farber disease, N-laurylsphingosine deacylase deficiency |
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. |
Ontology: | Human Disease [DOID:0050464] ( DOID:0050464 ) |