OBO ID: DOID:0080114
Term Name: mitochondrial complex III deficiency nuclear type 5 Search Ontology:
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 mitochondrial complex III deficiency nuclear type 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
UQCRC2 Mitochondrial complex III deficiency, nuclear type 5 615160
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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