Metadata | |
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ID | DOID:0080115 |
Name | mitochondrial complex III deficiency nuclear type 6 |
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. http://omim.org/entry/615453?search=615453&highlight=615453 |
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Subclass Logical Relationships |
disease has basis in some structural_variant |