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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: FLNMS, Fellman disease, Finnish lactic acidosis with hepatic hemosiderosis, Finnish lethal neonatal metabolic syndrome, 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](img/icons/info1.png)
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee