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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:GRACILE syndrome
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Accession:EFO:MONDO:0011308 term browser browse the term
Definition:GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).
Synonyms:exact_synonym: Fellman disease;   Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome;   Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome
 related_synonym: FLNMS;   Fellman syndrome;   Finnish lactic acidosis with hepatic hemosiderosis;   Finnish lethal neonatal metabolic syndrome;   Growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death;   Growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis and early death
 alt_id: MONDO:0011308
 xref: DOID:0111455;   GARD:1;   ICD9:759.89;   MEDGEN:400428;   MESH:C537934;   MIM:603358;   ORDO:53693;   SCTID:703388005;   UMLS:C1864002


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          mitochondrial disease 0
            GRACILE syndrome 0
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