About: Lecithin Acyltransferase Deficiency     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
rdf:type
rdfs:label
  • Lecithin Acyltransferase Deficiency
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Lecithin Acyltransferase Deficiency
UMLS_CUI
  • C0023195
FULL_SYN
  • Lecithin Acyltransferase DeficiencyPTNCI
DEFINITION
  • A disorder of lipoprotein metabolism caused by mutations in the LCAT gene. It is characterized by deficiency of the enzyme lecithin cholesterol acyltransferase. It is manifested with corneal opacity, hemolytic anemia, and proteinuria.NCI
code
  • C84813
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