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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 MRPS16 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
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
PMID:15505824 NCBI chr15:3,918,621...3,921,024
Ensembl chr15:3,918,615...3,921,656
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Anatomical Pathological Conditions 2016
        Agenesis of Corpus Callosum 196
          combined oxidative phosphorylation deficiency 2 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                combined oxidative phosphorylation deficiency 2 1
paths to the root