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ONTOLOGY REPORT - ANNOTATIONS


Term:GRACILE syndrome
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Accession:DOID:0111455 term browser browse the term
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 BCS1L on chromosome 2q35. (DO)
Synonyms:exact_synonym: FLNMS;   Fellman disease;   Fellman syndrome;   Finnish Lethal Neonatal Metabolic Syndrome;   Finnish, lactic acidosis with hepatic hemosiderosis;   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
 broad_synonym: BCS1L-related disorder
 primary_id: MESH:C537934
 alt_id: OMIM:603358
 xref: GARD:1;   ORDO:53693
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GRACILE syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone JBrowse link 9 81,868,158 81,872,201 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      GRACILE syndrome 1
Path 2
Term Annotations click to browse term
  disease 15639
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        acquired metabolic disease 2713
          mineral metabolism disease 413
            iron metabolism disease 92
              Iron Overload 32
                hemosiderosis 2
                  GRACILE syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.