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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 34
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Accession:DOID:0111497 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. (DO)
Synonyms:exact_synonym: COXPD34;   syndromic sensorineural deafness due to COXPD;   syndromic sensorineural deafness due to combined oxidative phosphorylation defect;   syndromic sensorineural hearing loss due to COXPD
 primary_id: OMIM:617872
 xref: ORDO:457223


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combined oxidative phosphorylation deficiency 34 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gga3 golgi associated, gamma adaptin ear containing, ARF binding protein 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:100,825,427...100,843,422
Ensembl chr10:100,825,426...100,844,462 		JBrowse link
G Mrps7 mitochondrial ribosomal protein S7 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 OMIM
ClinVar		 PMID:9063420 PMID:25556185 PMID:25741868 PMID:28492532 NCBI chr10:100,843,691...100,846,838
Ensembl chr10:100,843,356...100,847,129 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        mitochondrial metabolism disease 811
          combined oxidative phosphorylation deficiency 73
            combined oxidative phosphorylation deficiency 34 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal recessive disease 6581
                combined oxidative phosphorylation deficiency 34 2
paths to the root