ONTOLOGY REPORT - ANNOTATIONS


Term:Methylmalonyl-CoA Epimerase Deficiency
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Accession:DOID:9000454 term browser browse the term
Synonyms:exact_synonym: Methylmalonyl-CoA Racemase Deficiency
 narrow_synonym: METHYLMALONIC ACIDURIA III;   METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY
 primary_id: MESH:C565386;   RDO:0014035
 alt_id: OMIM:251120
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Methylmalonyl-CoA Epimerase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcee methylmalonyl CoA epimerase JBrowse link 1 125,229,487 125,252,692 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          amino acid metabolic disorder 337
            Methylmalonyl-CoA Epimerase Deficiency 1
              Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency 0
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              Methylmalonyl-CoA Epimerase Deficiency 1
                Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency 0
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