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Metadata
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
Xrefs

MIM:615453

Parent Relationships

is_a mitochondrial complex III deficiency

Subclass Logical Relationships

disease has basis in some structural_variant

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