GRACILE syndrome

Summary

DOID:0111455 - GRACILE syndrome

Disease Ontology 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 the BCS1L gene on chromosome 2q35.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: bcs1l

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), mitochondrial metabolism disease (is_a)