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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 MRPS7 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 Mrps7 mitochondrial ribosomal protein S7 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 ClinVar
OMIM
PMID:9063420 PMID:25556185 PMID:25741868 NCBI chr10:104,155,805...104,158,840
Ensembl chr10:104,155,805...104,158,839
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        mitochondrial metabolism disease 348
          combined oxidative phosphorylation deficiency 58
            combined oxidative phosphorylation deficiency 34 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                combined oxidative phosphorylation deficiency 34 1
paths to the root