OBO ID: DOID:0080115
Term Name: mitochondrial complex III deficiency nuclear type 6 Search Ontology:
Synonyms:
Definition: A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24. http://omim.org/entry/615453?search=615453&highlight=615453
References:
Ontology: Human Disease   ( DOID:0080115 )
Relationships
is a type of:
OTHER mitochondrial complex III deficiency nuclear type 6 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CYC1 Mitochondrial complex III deficiency, nuclear type 6 615453
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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