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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 OMIM:614702
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 10
ClinVar Annotator: match by term: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS
OMIM
ClinVar
PMID:22608499, PMID:23929671, PMID:24033266, PMID:25058219, PMID:25741868, PMID:25741892, PMID:26061759, PMID:27256614, PMID:28492532, PMID:29331171, PMID:29440775, PMID:30311386 NCBI chr 8:85,807,703...85,832,263
Ensembl chr 8:85,808,125...85,831,937
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Nutritional and Metabolic Diseases 4728
      disease of metabolism 4728
        mitochondrial metabolism disease 345
          combined oxidative phosphorylation deficiency 56
            combined oxidative phosphorylation deficiency 10 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal recessive disease 2602
                combined oxidative phosphorylation deficiency 10 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.