Farber lipogranulomatosis (Q1396345)

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extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase
  • Acid Ceramidase Deficiency
  • Farber Disease
  • N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY
  • FRBRL
Language Label Description Also known as
English
Farber lipogranulomatosis
extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase
  • Acid Ceramidase Deficiency
  • Farber Disease
  • N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY
  • FRBRL

Statements

instance of
genetic disease
0 references
rare disease
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class of disease
0 references

Identifiers

KEGG ID
H00138
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GARD rare disease ID
6426
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Microsoft Academic ID
2778316032
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2909413726
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Mondo ID
MONDO_0009218
0 references
 
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