About: Farber Lipogranulomatosis     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Farber Lipogranulomatosis
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Farber Lipogranulomatosis
UMLS_CUI
  • C0268255
FULL_SYN
  • Farber LipogranulomatosisPTNCI
DEFINITION
  • A very rare autosomal recessive metabolic disorder affecting lipid metabolism. It is caused by mutations in the ASAH1 gene and is characterized by fatty accumulation in the body tissues. Patients develop lipogranulomas in the skin and internal organs, edema and pain in the joints and a hoarse voice. It may be associated with intellectual disability.NCI
code
  • C84710
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