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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: MESH:C566885
 alt_id: OMIM:245400
 xref: 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 OMIM:245400
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)		 OMIM
ClinVar		 PMID:17287286 PMID:17668387 PMID:19526370 PMID:20453710 PMID:20693550 PMID:21639866 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29217198 NCBI chr 4:101,181,315...101,210,692
Ensembl chr 4:101,180,404...101,210,746 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        mitochondrial metabolism disease 349
          Succinate-Coa Ligase Deficiency 1
            mitochondrial DNA depletion syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            mitochondrial metabolism disease 349
              Succinate-Coa Ligase Deficiency 1
                mitochondrial DNA depletion syndrome 9 1
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