Farber Lipogranulomatosis
Disease ID: disease_node_12077
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| Dbxref | GARD:6426, MESH:D055577, MIM:228000, NCI:C84710, SNOMEDCT_US_2023_03_01:79935000, UMLS_CUI:C0268255 |
|---|---|
| Subclassof | DOID_9455 |
| Data Source | DOID, MESH |
| Synonyms | Farber disease, N-laurylsphingosine deacylase deficiency, acid ceramidase deficiency |
| Mesh Id | D055577 |
| Mesh Label | Farber Lipogranulomatosis |
| Mesh Subclassof | D013106 |
| Doid Label | Farber lipogranulomatosis |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_12077 |
| Doid Id | DOID_0050464 |
| Label | Farber Lipogranulomatosis |
- Outgoing r'ship
SUBCLASS_OFto/from Lipidoses(ID:disease_node_4786) (Disease)