FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term methylmalonic acidemia due to transcobalamin receptor defect ID (Ontology) DOID:0060741 (Human Disease)
Definition A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene.
Also Known As "methylmalonic acidemia, TCblR type" ; "methylmalonic aciduria due to transcobalamin receptor defect"
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  organic acidemia
   |__methylmalonic acidemia
       |__methylmalonic acidemia due to transcobalamin receptor defect
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Synonyms
  • "methylmalonic acidemia, TCblR type" EXACT
    "methylmalonic aciduria due to transcobalamin receptor defect" EXACT
Secondary IDs
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ICD10CM:E71.1
MIM:613646
ORDO:280183