| Term Name: | Farber lipogranulomatosis |
|---|---|
| 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 ) |