OBO ID: DOID:0111679
Term Name: glutamate formiminotransferase deficiency Search Ontology:
Synonyms:
  • Arakawa syndrome 1
  • FIGLUria
  • formiminoglutamic acidemia
  • formiminoglutamic aciduria
  • formiminotransferase cyclodeaminase deficiency
  • formiminotransferase deficiency syndrome
  • FTCD deficiency
Definition: A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in FTCD on chromosome 21q22.3. (2)
References:
Ontology: Human Disease   (DOID:0111679)
OTHER glutamate formiminotransferase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FTCD Glutamate formiminotransferase deficiency 229100
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None