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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial DNA depletion syndrome 9
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Accession:DOID:0080128 term browser browse the term
Definition:A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11. (DO)
Synonyms:exact_synonym: Fatal Infantile Lactic Acidosis;   MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC WITH METHYLMALONIC ACIDURIA);   MTDPS9;   Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic Type with Methylmalonic Aciduria)
 primary_id: MESH:C566885
 alt_id: DOID:9002092;   OMIM:245400;   RDO:0008344;   RDO:0015101
 xref: ORDO:17
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mitochondrial DNA depletion syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Suclg1 succinate-CoA ligase, alpha subunit JBrowse link 4 101,181,315 101,210,692 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        mitochondrial metabolism disease 307
          Succinate-Coa Ligase Deficiency 1
            mitochondrial DNA depletion syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          inherited metabolic disorder 1864
            mitochondrial metabolism disease 307
              Succinate-Coa Ligase Deficiency 1
                mitochondrial DNA depletion syndrome 9 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.