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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
 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 Slc35a1 solute carrier family 35 member A1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2F OMIM
ClinVar
PMID:23873973 PMID:25552652 PMID:25741868 PMID:28492532 PMID:28856833 NCBI chr 5:50,119,880...50,142,689
Ensembl chr 5:50,119,881...50,142,724
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital disorder of glycosylation 125
        congenital disorder of glycosylation type II 47
          congenital disorder of glycosylation type IIf 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            carbohydrate metabolic disorder 399
              congenital disorder of glycosylation 125
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIf 1
paths to the root