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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 4
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Accession:DOID:0111494 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TUFM on chromosome 16p11.2. (DO)
Synonyms:exact_synonym: COXPD4
 primary_id: MESH:C565690
 alt_id: OMIM:610678
 xref: ORDO:254925
For additional species annotation, visit the Alliance of Genome Resources.


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combined oxidative phosphorylation deficiency 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tufm Tu translation elongation factor, mitochondrial ISO ClinVar Annotator: match by OMIM:610678
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 4
OMIM
ClinVar
PMID:17160893 PMID:26741492 PMID:28492532 NCBI chr 1:197,903,582...197,907,189
Ensembl chr 1:197,903,582...197,907,189
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        mitochondrial metabolism disease 349
          combined oxidative phosphorylation deficiency 58
            combined oxidative phosphorylation deficiency 4 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                combined oxidative phosphorylation deficiency 4 1
paths to the root