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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 2
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Accession:DOID:0111483 term browser browse the term
Definition:A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2. (DO)
Synonyms:exact_synonym: COXPD2;   agenesis of corpus callosum with dysmorphism and fatal lactic acidosis
 primary_id: MESH:C566468
 alt_id: OMIM:610498
 xref: ORDO:254920


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combined oxidative phosphorylation deficiency 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mrps16 mitochondrial ribosomal protein S16 ISO ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15505824 PMID:18539099 PMID:25741868 PMID:28492532 PMID:28749478 NCBI chr15:3,918,621...3,921,024
Ensembl chr15:3,918,615...3,921,656 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Anatomical Pathological Conditions 2657
        Agenesis of Corpus Callosum 369
          combined oxidative phosphorylation deficiency 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                combined oxidative phosphorylation deficiency 2 1
paths to the root