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 )
Relationships
is a type of:
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 MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.