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ONTOLOGY REPORT - ANNOTATIONS


Term:mitochondrial complex III deficiency nuclear type 6
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Accession:DOID:0080115 term browser browse the term
Definition:A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24. (DO)
Synonyms:exact_synonym: MC3DN6
 primary_id: OMIM:615453
 alt_id: RDO:9000953
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mitochondrial complex III deficiency nuclear type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyc1 cytochrome c-1 JBrowse link 7 117,409,576 117,411,953 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15639
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        mitochondrial metabolism disease 308
          mitochondrial complex III deficiency 13
            mitochondrial complex III deficiency nuclear type 6 1
Path 2
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          inherited metabolic disorder 1879
            mitochondrial metabolism disease 308
              mitochondrial complex III deficiency 13
                mitochondrial complex III deficiency nuclear type 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.