About: Sjogren-Larsson Syndrome     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • Sjogren-Larsson Syndrome
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Sjogren-Larsson Syndrome
UMLS_CUI
  • C0037231
FULL_SYN
  • Sjogren-Larsson SyndromePTNCI
DEFINITION
  • A rare autosomal recessive inherited metabolic syndrome caused by mutations in the ALDH3A2 gene. It is characterized by deficiency of fatty aldehyde dehydrogenase. It is manifested with congenital ichthyosis, mental retardation, and leg paralysis.NCI
code
  • C85070
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