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- Bc6d82dee2c62fb2e1b890a5808ab528e hasDbXref "Orphanet:2882" @default.
- Bc6d82dee2c62fb2e1b890a5808ab528e type Axiom @default.
- Bc6d82dee2c62fb2e1b890a5808ab528e annotatedProperty IAO_0000115 @default.
- Bc6d82dee2c62fb2e1b890a5808ab528e annotatedSource MONDO_0008863 @default.
- Bc6d82dee2c62fb2e1b890a5808ab528e 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.