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- B346bd0c448f07bb3586433b9e75782b7 hasDbXref "Orphanet:280183" @default.
- B346bd0c448f07bb3586433b9e75782b7 type Axiom @default.
- B346bd0c448f07bb3586433b9e75782b7 annotatedProperty IAO_0000115 @default.
- B346bd0c448f07bb3586433b9e75782b7 annotatedSource MONDO_0013341 @default.
- B346bd0c448f07bb3586433b9e75782b7 annotatedTarget "Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported." @default.