FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term methylmalonic aciduria and homocystinuria type cblG ID (Ontology) DOID:0050733 (Human Disease)
Definition A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism.
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  organic acidemia
   |__methylmalonic acidemia
       |__methylmalonic aciduria and homocystinuria type cblG
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