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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 5
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Accession:DOID:0111473 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonaemia that has_material_basis_in homozygous or compound heterozygous mutation in MRPS22 on chromosome 3q23. (DO)
Synonyms:exact_synonym: COXPD5;   hypotonia with lactic acidemia and hyperammonemia
 primary_id: MESH:C567126
 alt_id: OMIM:611719
 xref: ORDO:137908
For additional species annotation, visit the Alliance of Genome Resources.


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combined oxidative phosphorylation deficiency 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Copb2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5 ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:106,582,339...106,603,763 JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by OMIM:611719
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 5
OMIM
ClinVar
PMID:17873122, PMID:21189481, PMID:25741868, PMID:28492532, PMID:29096039, PMID:30311386 NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        mitochondrial metabolism disease 333
          combined oxidative phosphorylation deficiency 52
            combined oxidative phosphorylation deficiency 5 2
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal recessive disease 2502
                combined oxidative phosphorylation deficiency 5 2
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.