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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Succinate-Coa Ligase Deficiency
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Accession:DOID:9007007 term browser browse the term
Synonyms:exact_synonym: Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria;   Mitochondrial Dna Depletion, Encephalomyopathic Form, with Methylmalonic Aciduria;   Succinate-Coenzyme A Ligase Deficiency
 primary_id: MESH:C580473;   RDO:0015933
For additional species annotation, visit the Alliance of Genome Resources.



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mitochondrial DNA depletion syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Suclg1 succinate-CoA ligase GDP/ADP-forming subunit alpha ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 OMIM
ClinVar
PMID:17287286 PMID:17668387 PMID:19526370 PMID:20197121 PMID:20453710 More... NCBI chr 4:105,308,236...105,337,595
Ensembl chr 4:105,308,039...105,337,600
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Nutritional and Metabolic Diseases 6757
      disease of metabolism 6757
        mitochondrial metabolism disease 442
          Succinate-Coa Ligase Deficiency 1
            mitochondrial DNA depletion syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            mitochondrial metabolism disease 442
              Succinate-Coa Ligase Deficiency 1
                mitochondrial DNA depletion syndrome 9 1
paths to the root