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Metadata
ID DOID:0080114
Name mitochondrial complex III deficiency nuclear type 5
Definition A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12.
http://omim.org/entry/615160?search=615160&highlight=615160
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OMIM:615160

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is_a mitochondrial complex III deficiency

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