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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 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
 narrow_synonym: NEONATAL LACTIC ACIDOSIS
 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
OMIM
ClinVar
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: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 16023
    syndrome 7003
      GRACILE syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        acquired metabolic disease 2786
          mineral metabolism disease 445
            iron metabolism disease 112
              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.