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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);   SUCLG1-RELATED CONDITION;   fatal infantile lactic acidosis;   mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
 xref: MESH:C566885;   MIM:245400;   MONDO:0009504;   NCI:C183531;   ORDO:17


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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 | ClinVar Annotator: match by term: SUCLG1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17668387 PMID:19526370 More... NCBI chr 4:106,866,329...106,895,686
Ensembl chr 4:106,866,114...106,895,689 		JBrowse link
G Suclg2 succinate-CoA ligase GDP-forming subunit beta ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 ClinVar NCBI chr 4:129,623,833...129,893,937
Ensembl chr 4:129,623,834...129,937,296 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        mitochondrial metabolism disease 836
          Succinate-Coa Ligase Deficiency 2
            mitochondrial DNA depletion syndrome 9 2
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            mitochondrial metabolism disease 836
              Succinate-Coa Ligase Deficiency 2
                mitochondrial DNA depletion syndrome 9 2
paths to the root