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mitochondrial complex IV deficiency nuclear type 21 - Ontology Report - Rat Genome Database

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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 21
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Accession:DOID:0070506 term browser browse the term
Definition:A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3. (DO)
Synonyms:exact_synonym: MC4DN21;   NDUFA4-RELATED CONDITION
 primary_id: MIM:619065
 alt_id: DOID:9004227

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mitochondrial complex IV deficiency nuclear type 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufa4 Ndufa4, mitochondrial complex associated ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 | ClinVar Annotator: match by term: NDUFA4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 4:40,002,216...40,009,384
Ensembl chr 4:40,002,216...40,023,920 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Nutritional and Metabolic Diseases 8545
      disease of metabolism 8545
        mitochondrial metabolism disease 820
          cytochrome-c oxidase deficiency disease 225
            COX deficiency, benign infantile mitochondrial myopathy 43
              mitochondrial complex IV deficiency nuclear type 21 1
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          inherited metabolic disorder 6628
            mitochondrial metabolism disease 820
              cytochrome-c oxidase deficiency disease 225
                COX deficiency, benign infantile mitochondrial myopathy 43
                  mitochondrial complex IV deficiency nuclear type 21 1
paths to the root