FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term mitochondrial complex III deficiency nuclear type 5 ID (Ontology) DOID:0080114 (Human Disease)
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.
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 mitochondrial complex III deficiency nuclear type 5       1
 for disease ribbon | mitochondrial complex III deficiency nuclear type 5       1
 model of | mitochondrial complex III deficiency nuclear type 5       1
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  mitochondrial metabolism disease
   |__mitochondrial complex III deficiency
       |__mitochondrial complex III deficiency nuclear type 5  1 rec.
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MIM:615160