Search Ontology:
Human Disease

mitochondrial complex III deficiency nuclear type 5

Term ID
DOID:0080114
Synonyms
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
References
Ontology
Human Disease   ( DOID:0080114 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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