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Disease Ontology Browser
GRACILE syndrome (DOID:0111455)
Alliance: disease page
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
Alt IDs: OMIM:603358, MESH:C537934, ORDO:53693, UMLS_CUI:C1864002
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory