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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 19
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Accession:DOID:0070504 term browser browse the term
Definition:A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23. (DO)
Synonyms:exact_synonym: MC4DN19
 primary_id: MIM:619063
 alt_id: DOID:9006233


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mitochondrial complex IV deficiency nuclear type 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat14 lysine acetyltransferase 14 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 ClinVar PMID:25741868 PMID:28386624 NCBI chr 3:152,194,560...152,235,048
Ensembl chr 3:152,194,696...152,235,052 		JBrowse link
G Pet117 PET117 cytochrome c oxidase chaperone ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 OMIM
ClinVar		 PMID:25741868 PMID:28386624 NCBI chr 3:152,187,473...152,195,173
Ensembl chr 3:152,189,892...152,194,868 		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 19 2
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 19 2
paths to the root