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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 the ELAC2 gene on chromosome 17p12. (DO)
Synonyms:exact_synonym: COXPD17
 primary_id: OMIM:615440
 xref: ORDO:369913


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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 IAGP
EXP		 ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 17
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:10986046 PMID:11175785 PMID:11507049 PMID:12515253 More... NCBI chr17:12,991,612...13,018,027
Ensembl chr17:12,991,612...13,018,065 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Nutritional and Metabolic Diseases 10568
      disease of metabolism 10568
        mitochondrial metabolism disease 1238
          combined oxidative phosphorylation deficiency 114
            combined oxidative phosphorylation deficiency 17 1
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18511
            autosomal genetic disease 16781
              autosomal recessive disease 10240
                combined oxidative phosphorylation deficiency 17 1
paths to the root