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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 17
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Accession:DOID:9001849 term browser browse the term
Synonyms:exact_synonym: MC4DN17
 primary_id: OMIM:619061
For additional species annotation, visit the Alliance of Genome Resources.


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Mitochondrial Complex IV Deficiency, Nuclear Type 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coa8 cytochrome c oxidase assembly factor 8 ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 ClinVar
OMIM
PMID:25175347 NCBI chr 6:136,185,772...136,210,936
NCBI chr 6:136,279,476...136,304,317
Ensembl chr 6:136,185,487...136,210,940
Ensembl chr 6:136,185,487...136,210,940
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    Nutritional and Metabolic Diseases 5527
      disease of metabolism 5527
        inherited metabolic disorder 2615
          cytochrome-c oxidase deficiency disease 31
            Mitochondrial Complex IV Deficiency, Nuclear Type 17 1
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          inherited metabolic disorder 2615
            mitochondrial metabolism disease 392
              cytochrome-c oxidase deficiency disease 31
                Mitochondrial Complex IV Deficiency, Nuclear Type 17 1
paths to the root