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- Bed7f14eabcaca348bb5fd6dbf1f213ea hasDbXref "Orphanet:280183" @default.
- Bed7f14eabcaca348bb5fd6dbf1f213ea type Axiom @default.
- Bed7f14eabcaca348bb5fd6dbf1f213ea annotatedProperty IAO_0000115 @default.
- Bed7f14eabcaca348bb5fd6dbf1f213ea annotatedSource MONDO_0013341 @default.
- Bed7f14eabcaca348bb5fd6dbf1f213ea 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.