FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term GRACILE syndrome ID (Ontology) DOID:0111455 (Human Disease)
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.
Also Known As "Fellman disease" ; "Finnish lactic acidosis with hepatic hemosiderosis" ; "Finnish lethal neonatal metabolic syndrome" (for all, see Synonyms field below)
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 Genes
 GRACILE syndrome       1
 for disease ribbon | GRACILE syndrome       1
 model of | GRACILE syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
inherited metabolic disorder          |
 |__mitochondrial metabolism disease__|
                                      GRACILE syndrome  1 rec.
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Is a autosomal recessive disease
mitochondrial metabolism disease
Part of
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Synonyms
  • "Fellman disease" EXACT
    "Finnish lactic acidosis with hepatic hemosiderosis" EXACT
    "Finnish lethal neonatal metabolic syndrome" EXACT
    "FLNMS" EXACT OMO:0003012
    "growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT
    "growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT
    "growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death" EXACT
Secondary IDs
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GARD:1
MESH:C537934
MIM:603358
ORDO:53693
SNOMEDCT_US_2023_03_01:703388005
UMLS_CUI:C1864002