About: Abetalipoproteinemia     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Abetalipoproteinemia
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Abetalipoproteinemia
UMLS_CUI
  • C0000744
FULL_SYN
  • AbetalipoproteinemiaPTNCI
DEFINITION
  • An autosomal recessive disorder characterized by defective absorption of dietary fat, cholesterol and fat-soluble vitamins. It results in multiple vitamin deficiencies. Signs and symptoms include failure to thrive, diarrhea, steatorrhea, acanthocytosis and ataxia.NCI
code
  • C84525
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