OBO ID: DOID:0111455
Term Name: GRACILE syndrome Search Ontology:
Synonyms:
  • Fellman disease
  • Finnish lactic acidosis with hepatic hemosiderosis
  • Finnish lethal neonatal metabolic syndrome
  • FLNMS
  • growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
  • growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
  • growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death
Definition: A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in BCS1L on chromosome 2q35. (2)
References:
Ontology: Human Disease   (DOID:0111455)
OTHER GRACILE syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BCS1L GRACILE syndrome 603358
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None