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About: mitochondrial complex III deficiency nuclear type 6     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
type
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  • mitochondrial complex III deficiency nuclear type 6 (en)
described by
id
  • DOID:0080115
database_cross_reference
  • OMIM:615453
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
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