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- Bf8a75a81dad30865e7c7a40343d110e5 hasDbXref "Orphanet:941" @default.
- Bf8a75a81dad30865e7c7a40343d110e5 type Axiom @default.
- Bf8a75a81dad30865e7c7a40343d110e5 annotatedProperty IAO_0000115 @default.
- Bf8a75a81dad30865e7c7a40343d110e5 annotatedSource MONDO_0009070 @default.
- Bf8a75a81dad30865e7c7a40343d110e5 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.