Concept information
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Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
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Metabolism, Inborn Errors
Lysosomal Storage Diseases
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
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Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
...
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Lysosomal Storage Diseases, Nervous System
Sphingolipidoses
Preferred term
Farber Lipogranulomatosis
Type
-
Topical Descriptor
Broader concept
Entry terms
- Acid Ceramidase Deficiencies
- Acid Ceramidase Deficiency
- Ceramidase Deficiencies
- Ceramidase Deficiency
- Ceramidase Deficiency, Acid
- Deficiencies, Ceramidase
- Deficiencies, N-Laurylsphingosine Deacylase
- Deficiency, Acid Ceramidase
- Deficiency, Ceramidase
- Deficiency, N-Laurylsphingosine Deacylase
- Disease, Farber's
- Diseases, Farber's
- Farber Disease
- Farber's Disease
- Farbers Disease
- Farber's Diseases
- N-Laurylsphingosine Deacylase Deficiencies
- N Laurylsphingosine Deacylase Deficiency
- N-Laurylsphingosine Deacylase Deficiency
Scope note
- 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.
History note
- 2009
In other languages
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Finnish
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Swedish
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Farbers sjukdom
URI
http://www.yso.fi/onto/mesh/D055577
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