OBO ID: DOID:0080114 |
Term Name: | mitochondrial complex III deficiency nuclear type 5 | Search Ontology: | |
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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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Ontology: | Human Disease ( DOID:0080114 ) |
OTHER mitochondrial complex III deficiency nuclear type 5 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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