header logo image header logo text
Downloads Login
Research
General Information
ZIRC
OBO ID: DOID:0080111
Term Name: mitochondrial complex III deficiency nuclear type 1 Search Ontology:
Synonyms:
Definition: A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35.http://omim.org/entry/124000?search=124000&highlight=124000
References:
Ontology: Human Disease   (DOID:0080111)
OTHER mitochondrial complex III deficiency nuclear type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BCS1L Mitochondrial complex III deficiency, nuclear type 1 124000
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None