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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 33
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Accession:DOID:0111495 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C1QBP on chromosome 17p13.2. (DO)
Synonyms:exact_synonym: COXPD33
 primary_id: OMIM:617713
 alt_id: RDO:9005147
 xref: NCI:C174440
For additional species annotation, visit the Alliance of Genome Resources.


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combined oxidative phosphorylation deficiency 33 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qbp complement C1q binding protein ISO ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 ClinVar
OMIM
PMID:28942965 NCBI chr10:57,613,876...57,618,527
Ensembl chr10:57,613,879...57,618,527
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        mitochondrial metabolism disease 350
          combined oxidative phosphorylation deficiency 58
            combined oxidative phosphorylation deficiency 33 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal recessive disease 2668
                combined oxidative phosphorylation deficiency 33 1
paths to the root