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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:combined oxidative phosphorylation deficiency 10
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Accession:DOID:0111480 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in MTO1 on chromosome 6q13. (DO)
Synonyms:exact_synonym: COXPD10;   infantile hypertrophic mitochondrial cardiomyopathy, and lactic acidosis;   mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
 primary_id: OMIM:614702
 xref: ORDO:314637
For additional species annotation, visit the Alliance of Genome Resources.



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combined oxidative phosphorylation deficiency 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mto1 mitochondrial tRNA translation optimization 1 ISO ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22608499 PMID:23929671 More... NCBI chr 8:79,309,681...79,335,231
Ensembl chr 8:79,309,982...79,335,231
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Nutritional and Metabolic Diseases 6769
      disease of metabolism 6769
        mitochondrial metabolism disease 442
          combined oxidative phosphorylation deficiency 83
            combined oxidative phosphorylation deficiency 10 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                combined oxidative phosphorylation deficiency 10 1
paths to the root