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- Bc82d1d663e02fc918f2c4e11c55619b4 hasDbXref "Orphanet:941" @default.
- Bc82d1d663e02fc918f2c4e11c55619b4 type Axiom @default.
- Bc82d1d663e02fc918f2c4e11c55619b4 annotatedProperty IAO_0000115 @default.
- Bc82d1d663e02fc918f2c4e11c55619b4 annotatedSource MONDO_0009070 @default.
- Bc82d1d663e02fc918f2c4e11c55619b4 annotatedTarget "A metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21." @default.