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- B5b66088d7e9ab25fecebb1ab9e7a7cda hasDbXref "Orphanet:1414" @default.
- B5b66088d7e9ab25fecebb1ab9e7a7cda type Axiom @default.
- B5b66088d7e9ab25fecebb1ab9e7a7cda annotatedProperty IAO_0000115 @default.
- B5b66088d7e9ab25fecebb1ab9e7a7cda annotatedSource MONDO_0008966 @default.
- B5b66088d7e9ab25fecebb1ab9e7a7cda 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.