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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 the BCS1L gene 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
 narrow_synonym: neonatal lactic acidosis
 broad_synonym: BCS1L-related disorder
 primary_id: MESH:C537934
 alt_id: OMIM:603358
 xref: GARD:1;   MONDO:0011308;   ORDO:53693



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21147
    syndrome 10752
      GRACILE syndrome 1
Path 2
Term Annotations click to browse term
  disease 21147
    Nutritional and Metabolic Diseases 8230
      disease of metabolism 8230
        acquired metabolic disease 2531
          mineral metabolism disease 983
            iron metabolism disease 306
              Iron Overload 35
                hemosiderosis 2
                  GRACILE syndrome 1
paths to the root