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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:mitochondrial complex IV deficiency nuclear type 23
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Accession:DOID:0070485 term browser browse the term
Definition:A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. (DO)
Synonyms:exact_synonym: MC4DN23
 primary_id: OMIM:620275
 alt_id: DOID:9004597


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mitochondrial complex IV deficiency nuclear type 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox11 cytochrome c oxidase copper chaperone COX11 ISO ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 23 OMIM
ClinVar		 PMID:36030551 PMID:38068960 NCBI chr10:75,458,735...75,465,322
Ensembl chr10:75,458,749...75,465,322 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        mitochondrial metabolism disease 813
          cytochrome-c oxidase deficiency disease 226
            mitochondrial complex IV deficiency nuclear type 23 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
                mitochondrial complex IV deficiency nuclear type 23 1
paths to the root