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- B282d801835fa9e1b0fd51a5187f29a05 NCIT_P378 "NCI" @default.
- B282d801835fa9e1b0fd51a5187f29a05 type Axiom @default.
- B282d801835fa9e1b0fd51a5187f29a05 annotatedProperty IAO_0000115 @default.
- B282d801835fa9e1b0fd51a5187f29a05 annotatedSource NCIT_C26798 @default.
- B282d801835fa9e1b0fd51a5187f29a05 annotatedTarget "A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders." @default.