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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 16
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Accession:DOID:0070501 term browser browse the term
Definition:A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. (DO)
Synonyms:exact_synonym: COX4I1-RELATED CONDITION;   MC4DN16
 primary_id: MIM:619060
 alt_id: DOID:9001257


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mitochondrial complex IV deficiency nuclear type 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i1 cytochrome c oxidase subunit 4i1 ISO ClinVar Annotator: match by term: COX4I1-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31290619 NCBI chr19:65,630,383...65,636,623
Ensembl chr19:65,630,432...65,636,624 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        mitochondrial metabolism disease 836
          cytochrome-c oxidase deficiency disease 234
            COX deficiency, benign infantile mitochondrial myopathy 43
              mitochondrial complex IV deficiency nuclear type 16 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            mitochondrial metabolism disease 836
              cytochrome-c oxidase deficiency disease 234
                COX deficiency, benign infantile mitochondrial myopathy 43
                  mitochondrial complex IV deficiency nuclear type 16 1
paths to the root