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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: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: MTDPS9;   Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic Type with Methylmalonic Aciduria);   fatal infantile lactic acidosis;   mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
 primary_id: OMIM:245400
 alt_id: MESH:C566885
 xref: NCI:C183531;   ORDO:17
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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    Nutritional and Metabolic Diseases 6747
      disease of metabolism 6747
        mitochondrial metabolism disease 440
          Succinate-Coa Ligase Deficiency 1
            mitochondrial DNA depletion syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          inherited metabolic disorder 4659
            mitochondrial metabolism disease 440
              Succinate-Coa Ligase Deficiency 1
                mitochondrial DNA depletion syndrome 9 1
paths to the root