OBO ID: DOID:0111261
Term Name: fumarase deficiency Search Ontology:
Synonyms:
  • FMRD
  • fumaric aciduria
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)
References:
Ontology: Human Disease   (DOID:0111261)
OTHER fumarase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FH Fumarase deficiency 606812
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None