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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 23
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Accession:DOID:0111500 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in GTPBP3 on chromosome 19p13.11. (DO)
Synonyms:exact_synonym: COXPD23
 primary_id: OMIM:616198
 alt_id: RDO:9001404
 xref: ORDO:444013
For additional species annotation, visit the Alliance of Genome Resources.


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combined oxidative phosphorylation deficiency 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gtpbp3 GTP binding protein 3 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 23 OMIM
ClinVar
PMID:25434004, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr16:19,897,135...19,902,226
Ensembl chr16:19,896,986...19,902,245
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Nutritional and Metabolic Diseases 4728
      disease of metabolism 4728
        mitochondrial metabolism disease 345
          combined oxidative phosphorylation deficiency 56
            combined oxidative phosphorylation deficiency 23 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal recessive disease 2602
                combined oxidative phosphorylation deficiency 23 1
paths to the root

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