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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:congenital disorder of glycosylation type IIf
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Accession:DOID:0070258 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC35A1 on chromosome 6q15. (DO)
Synonyms:exact_synonym: CDG IIF;   CDG2F;   CDGIIF;   CDGIIdf;   CMP-sialic acid transporter deficiency;   SLC35A1-CDG;   carbohydrate deficient glycoprotein syndrome type IIf;   congenital disorder of glycosylation type 2F
 related_synonym: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, MODIFIER OF
 primary_id: MESH:C567040
 alt_id: OMIM:603585;   RDO:0015225
 xref: GARD:12409;   ORDO:238459
For additional species annotation, visit the Alliance of Genome Resources.



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congenital disorder of glycosylation type IIf term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rars2 arginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: SLC35A1-CDG ClinVar PMID:24033266 PMID:28492532 NCBI chr 5:49,181,517...49,238,664
Ensembl chr 5:49,181,565...49,233,276
JBrowse link
G Slc35a1 solute carrier family 35 member A1 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF | ClinVar Annotator: match by term: SLC35A1-CDG OMIM
ClinVar
PMID:15576474 PMID:23873973 PMID:24033266 PMID:25552652 PMID:25741868 More... NCBI chr 5:49,225,599...49,248,405
Ensembl chr 5:49,225,602...49,248,335
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    physical disorder 4115
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type II 106
          congenital disorder of glycosylation type IIf 2
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            carbohydrate metabolic disorder 2561
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type II 106
                  congenital disorder of glycosylation type IIf 2
paths to the root