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RGD uses the Human Disease Ontology (DO, 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 17
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Accession:DOID:0111496 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in ELAC2 on chromosome 17p12. (DO)
Synonyms:exact_synonym: COXPD17
 primary_id: OMIM:615440
 xref: ORDO:369913
For additional species annotation, visit the Alliance of Genome Resources.

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combined oxidative phosphorylation deficiency 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elac2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by OMIM:615440
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17
PMID:10986046, PMID:11175785, PMID:11507049, PMID:11522646, PMID:12515253, PMID:12522685, PMID:15863270, PMID:23849775, PMID:24033266, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr10:51,478,378...51,501,167
Ensembl chr10:51,478,378...51,501,165
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        mitochondrial metabolism disease 333
          combined oxidative phosphorylation deficiency 52
            combined oxidative phosphorylation deficiency 17 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                combined oxidative phosphorylation deficiency 17 1
paths to the root


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