mitochondrial complex III deficiency nuclear type 5

mitochondrial complex III deficiency nuclear type 5

http://purl.obolibrary.org/obo/DOID_0080114

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://purl.obolibrary.org/obo/ECO_0007636 url:http://omim.org/entry/615160?search=615160&highlight=615160 ]

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MIM:615160

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DOID:0080114

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mitochondrial complex III deficiency
disease has basis in some structural_variant