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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 39
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Accession:DOID:0111475 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in GFM2 on chromosome 5q13.3. (DO)
Synonyms:exact_synonym: COXPD39
 primary_id: OMIM:618397
For additional species annotation, visit the Alliance of Genome Resources.


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combined oxidative phosphorylation deficiency 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 39
ClinVar
OMIM
PMID:22700954 PMID:25741868 PMID:26016410 PMID:29075935 NCBI chr 2:27,949,195...27,984,045
Ensembl chr 2:27,949,208...27,984,256
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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 39 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 39 1
paths to the root