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ONTOLOGY REPORT - ANNOTATIONS


Term:combined malonic and methylmalonic acidemia
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Accession:DOID:0111263 term browser browse the term
Definition:An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. (DO)
Synonyms:exact_synonym: Cmamma;   combined malonic and methylmalonic aciduria
 primary_id: MESH:C580002
 alt_id: OMIM:614265;   RDO:0015871
 xref: GARD:10818;   ORDO:289504
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combined malonic and methylmalonic acidemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acsf3 acyl-CoA synthetase family member 3 JBrowse link 19 55,594,801 55,635,312 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15603
    Nutritional and Metabolic Diseases 4390
      disease of metabolism 4390
        inherited metabolic disorder 1877
          amino acid metabolic disorder 324
            organic acidemia 48
              combined malonic and methylmalonic acidemia 1
Path 2
Term Annotations click to browse term
  disease 15603
    Developmental Diseases 8772
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7555
        genetic disease 7051
          monogenic disease 4686
            autosomal genetic disease 3645
              autosomal recessive disease 2078
                combined malonic and methylmalonic acidemia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.