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RGD uses the Human Disease Ontology (DO, 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 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
For additional species annotation, visit the Alliance of Genome Resources.

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GRACILE syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by OMIM:603358
ClinVar Annotator: match by term: GRACILE syndrome
PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:20727375 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24236502 PMID:24655110 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:26489029 PMID:27959697 PMID:28105683 PMID:28322498 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:31435670 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      GRACILE syndrome 1
Path 2
Term Annotations click to browse term
  disease 16123
    Nutritional and Metabolic Diseases 4712
      disease of metabolism 4712
        acquired metabolic disease 2760
          mineral metabolism disease 433
            iron metabolism disease 103
              Iron Overload 32
                hemosiderosis 2
                  GRACILE syndrome 1
paths to the root