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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:familial chylomicronemia syndrome
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Accession:EFO:MONDO:0018637 term browser browse the term
Definition:A rare autosomal recessive disease characterized by the buildup in the blood of fat particles called chylomicrons (chylomicronemia), severe hypertriglyceridemia, and the risk of recurrent and potentially fatal pancreatitis and other complications. It is caused by mutations in the gene encoding LPL or, less frequently, by mutations in genes encoding other proteins necessary for LPL function.
Synonyms:exact_synonym: DOID:0111417;   Orphanet:444490;   http://identifiers.org/medgen/1778100;   http://linkedlifedata.com/resource/umls/id/C5442313
 alt_id: MONDO:0018637
 xref: DOID:0111417;   GARD:6414;   MEDGEN:1778100;   ORDO:444490;   UMLS:C5442313


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          syndromic disease 0
            familial chylomicronemia syndrome 0
              familial apolipoprotein C-II deficiency 0
              familial lipoprotein lipase deficiency 0
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