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- Be60a43e2c29ba75328e1a4b0286d5166 hasDbXref "Orphanet:2882" @default.
- Be60a43e2c29ba75328e1a4b0286d5166 type Axiom @default.
- Be60a43e2c29ba75328e1a4b0286d5166 annotatedProperty IAO_0000115 @default.
- Be60a43e2c29ba75328e1a4b0286d5166 annotatedSource MONDO_0008863 @default.
- Be60a43e2c29ba75328e1a4b0286d5166 annotatedTarget "A rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in ABCG5 (2p21) and ABCG8 (2p21) genes." @default.