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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 18
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Accession:DOID:0070503 term browser browse the term
Definition:A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2. (DO)
Synonyms:exact_synonym: MC4DN18
 primary_id: OMIM:619062
 alt_id: DOID:9005386


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mitochondrial complex IV deficiency nuclear type 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox6a2 cytochrome c oxidase subunit 6A2 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 OMIM
ClinVar		 PMID:25741868 PMID:31155743 NCBI chr 1:182,788,528...182,790,746
Ensembl chr 1:182,788,528...182,789,274 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        mitochondrial metabolism disease 812
          cytochrome-c oxidase deficiency disease 225
            COX deficiency, benign infantile mitochondrial myopathy 43
              mitochondrial complex IV deficiency nuclear type 18 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            mitochondrial metabolism disease 812
              cytochrome-c oxidase deficiency disease 225
                COX deficiency, benign infantile mitochondrial myopathy 43
                  mitochondrial complex IV deficiency nuclear type 18 1
paths to the root