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- Bac1b9684241669707d0fe2ef0fabc58b hasDbXref "Orphanet:1414" @default.
- Bac1b9684241669707d0fe2ef0fabc58b type Axiom @default.
- Bac1b9684241669707d0fe2ef0fabc58b annotatedProperty IAO_0000115 @default.
- Bac1b9684241669707d0fe2ef0fabc58b annotatedSource MONDO_0008966 @default.
- Bac1b9684241669707d0fe2ef0fabc58b annotatedTarget "Cholestasis-lymphedema syndrome 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 with fat malabsorption leading to failure to thrive, fat soluble vitamin deficiency with bleeding, rickets, and neuropathy. In 25% of cases, cirrhosis occurs during childhood or later in life." @default.