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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: COX6A2-RELATED CONDITION;   MC4DN18
 primary_id: MIM: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: COX6A2-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 OMIM
ClinVar		 PMID:22592081 PMID:25741868 PMID:31155743 PMID:32304865 PMID:34151536 NCBI chr 1:192,218,970...192,221,188
Ensembl chr 1:192,218,970...192,219,716 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Nutritional and Metabolic Diseases 4637
      disease of metabolism 4637
        mitochondrial metabolism disease 343
          cytochrome-c oxidase deficiency disease 87
            COX deficiency, benign infantile mitochondrial myopathy 24
              mitochondrial complex IV deficiency nuclear type 18 1
Path 2
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        genetic disease 7261
          inherited metabolic disorder 3387
            mitochondrial metabolism disease 343
              cytochrome-c oxidase deficiency disease 87
                COX deficiency, benign infantile mitochondrial myopathy 24
                  mitochondrial complex IV deficiency nuclear type 18 1
paths to the root