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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:methylmalonic acidemia cblB type
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Accession:DOID:0060743 term browser browse the term
Definition:A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24. (DO)
Synonyms:exact_synonym: CblB methylmalonic acidemia;   Cobalamin B disease;   methylmalonic aciduria cblB type;   methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type;   methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type;   methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--cbl B
 related_synonym: methylmalonic aciduria cb1B type
 primary_id: MESH:C537361
 alt_id: OMIM:251110
 xref: EFO:0009074;   NCI:C142172;   ORDO:79311


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          amino acid metabolic disorder 1523
            methylmalonic acidemia 49
              methylmalonic acidemia cblB type 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            amino acid metabolic disorder 1523
              organic acidemia 382
                methylmalonic acidemia 49
                  methylmalonic acidemia cblB type 2
paths to the root