ONTOLOGY REPORT - ANNOTATIONS


Term:methylmalonic acidemia due to transcobalamin receptor defect
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Accession:DOID:0060741 term browser browse the term
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. (DO)
Synonyms:exact_synonym: methylmalonic acidemia, TCblR type;   methylmalonic aciduria due to transcobalamin receptor defect
 primary_id: OMIM:613646
 alt_id: RDO:0009926
 xref: ORDO:280183
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methylmalonic acidemia due to transcobalamin receptor defect term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd320 CD320 molecule JBrowse link 7 18,700,445 18,706,244 RGD:7240710
RGD:8554872

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  disease 14919
    Nutritional and Metabolic Diseases 4263
      disease of metabolism 4263
        inherited metabolic disorder 1820
          amino acid metabolic disorder 340
            methylmalonic acidemia 31
              methylmalonic acidemia due to transcobalamin receptor defect 1
Path 2
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  disease 14919
    Developmental Diseases 7761
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7082
        genetic disease 6388
          inherited metabolic disorder 1820
            amino acid metabolic disorder 340
              organic acidemia 54
                methylmalonic acidemia 31
                  methylmalonic acidemia due to transcobalamin receptor defect 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.