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| Term | Farber lipogranulomatosis | ID (Ontology) | DOID:0050464 (Human Disease) |
| 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. | ||
| Also Known As | "acid ceramidase deficiency" ; "Farber disease" ; "N-laurylsphingosine deacylase deficiency" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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lysosomal storage disease |__lipid storage disease |__Farber lipogranulomatosis |
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| Is a | lipid storage disease | ||
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GARD:6426 MESH:D055577 MIM:228000 NCI:C84710 SNOMEDCT_US_2023_03_01:79935000 UMLS_CUI:C0268255 |
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