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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 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
OMIM
ClinVar
PMID:9536098 PMID:10986046 PMID:11175785 PMID:11507049 PMID:11522646 PMID:12515253 PMID:12522685 PMID:15863270 PMID:17576681 PMID:23849775 PMID:24033266 PMID:25326635 PMID:25741868 PMID:27312126 PMID:28492532 PMID:31045291 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 16909
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        mitochondrial metabolism disease 353
          combined oxidative phosphorylation deficiency 59
            combined oxidative phosphorylation deficiency 17 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal recessive disease 3224
                combined oxidative phosphorylation deficiency 17 1
paths to the root