ONTOLOGY REPORT - ANNOTATIONS


Term:Methylmalonate Semialdehyde Dehydrogenase Deficiency
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Accession:DOID:9006567 term browser browse the term
Synonyms:exact_synonym: MMSDH Deficiency;   MMSDHD
 primary_id: MESH:C566402;   RDO:0014766
 alt_id: OMIM:614105
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Methylmalonate Semialdehyde Dehydrogenase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 JBrowse link 6 108,146,552 108,167,185 RGD:8554872
RGD:7240710
G Bbof1 basal body orientation factor 1 JBrowse link 6 108,123,855 108,149,613 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
            Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
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
            purine-pyrimidine metabolic disorder 34
              Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.