mitochondrial complex III deficiency nuclear type 5 Disease Ontology Browser

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Disease Ontology Browser

mitochondrial complex III deficiency nuclear type 5 (DOID:0080114)
Alliance: disease page
Alt IDs: OMIM:615160
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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