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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Cholestasis-lymphedema syndrome
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Definition:Lymphedema cholestasis syndrome (LCS) is a rare genetic disorder characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and severe chronic lymphedema which mainly affects the lower limbs. Patients often present fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, neuropathy. In 25% of cases, cirrhosis occurs, during childhood or later in life.
Synonyms:exact_synonym: Aagenaes syndrome
 xref: ICD10:Q82.0;   MIM:214900


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          integumentary system disease 0
            skin disease 0
              Cholestasis-lymphedema syndrome 0
Path 2
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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          digestive system disease 0
            hepatobiliary disease 0
              Rare genetic hepatic disease 0
                Cholestasis-lymphedema syndrome 0
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