Farber Lipogranulomatosis
"Farber Lipogranulomatosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A sphingolipidosis subtype that is characterized by the histological appearance of granulomatous deposits in tissues. It results from the accumulation of CERAMIDES in various tissues due to an inherited deficiency of ACID CERAMIDASE.
| Descriptor ID |
D055577
|
| MeSH Number(s) |
C10.228.140.163.100.435.825.250 C16.320.565.189.435.825.250 C16.320.565.398.641.803.325 C16.320.565.595.554.825.250 C18.452.132.100.435.825.250 C18.452.584.687.803.325 C18.452.648.189.435.825.250 C18.452.648.398.641.803.325 C18.452.648.595.554.825.250
|
| Concept/Terms |
Farber Lipogranulomatosis- Farber Lipogranulomatosis
- Lipogranulomatosis, Farber
- Ceramidase Deficiency
- Ceramidase Deficiencies
- Deficiencies, Ceramidase
- Deficiency, Ceramidase
- Farber's Disease
- Disease, Farber's
- Diseases, Farber's
- Farber's Diseases
- Farbers Disease
- N-Laurylsphingosine Deacylase Deficiency
- Deficiencies, N-Laurylsphingosine Deacylase
- Deficiency, N-Laurylsphingosine Deacylase
- N Laurylsphingosine Deacylase Deficiency
- N-Laurylsphingosine Deacylase Deficiencies
- Acid Ceramidase Deficiency
- Acid Ceramidase Deficiencies
- Ceramidase Deficiency, Acid
- Deficiency, Acid Ceramidase
- Farber Disease
|
Below are MeSH descriptors whose meaning is more general than "Farber Lipogranulomatosis".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
- Sphingolipidoses [C10.228.140.163.100.435.825]
- Farber Lipogranulomatosis [C10.228.140.163.100.435.825.250]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
- Sphingolipidoses [C16.320.565.189.435.825]
- Farber Lipogranulomatosis [C16.320.565.189.435.825.250]
- Lipid Metabolism, Inborn Errors [C16.320.565.398]
- Lipidoses [C16.320.565.398.641]
- Sphingolipidoses [C16.320.565.398.641.803]
- Farber Lipogranulomatosis [C16.320.565.398.641.803.325]
- Lysosomal Storage Diseases [C16.320.565.595]
- Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
- Sphingolipidoses [C16.320.565.595.554.825]
- Farber Lipogranulomatosis [C16.320.565.595.554.825.250]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
- Sphingolipidoses [C18.452.132.100.435.825]
- Farber Lipogranulomatosis [C18.452.132.100.435.825.250]
- Lipid Metabolism Disorders [C18.452.584]
- Lipidoses [C18.452.584.687]
- Sphingolipidoses [C18.452.584.687.803]
- Farber Lipogranulomatosis [C18.452.584.687.803.325]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
- Sphingolipidoses [C18.452.648.189.435.825]
- Farber Lipogranulomatosis [C18.452.648.189.435.825.250]
- Lipid Metabolism, Inborn Errors [C18.452.648.398]
- Lipidoses [C18.452.648.398.641]
- Sphingolipidoses [C18.452.648.398.641.803]
- Farber Lipogranulomatosis [C18.452.648.398.641.803.325]
- Lysosomal Storage Diseases [C18.452.648.595]
- Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
- Sphingolipidoses [C18.452.648.595.554.825]
- Farber Lipogranulomatosis [C18.452.648.595.554.825.250]
Below are MeSH descriptors whose meaning is more specific than "Farber Lipogranulomatosis".
This graph shows the total number of publications written about "Farber Lipogranulomatosis" by people in this website by year, and whether "Farber Lipogranulomatosis" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Farber Lipogranulomatosis" by people in Profiles.
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ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat. 2020 09; 41(9):1469-1487.