| Metadata | |
|---|---|
| ID | DOID:0050464 |
| Name | Farber lipogranulomatosis |
| 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. https://en.wikipedia.org/wiki/Farber_disease |
| Xrefs |
SNOMEDCT_US_2023_03_01:79935000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
acid ceramidase deficiency [EXACT] Farber disease [EXACT] N-laurylsphingosine deacylase deficiency [EXACT] |
| Parent Relationships |