|OBO ID: DOID:0111261|
|Term Name:||fumarase deficiency||Search Ontology:|
|Definition:||An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43. (2)|
|Ontology:||Human Disease (DOID:0111261)|
|is a type of:||
OTHER fumarase deficiency PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
Your Input Welcome
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.