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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 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          carbohydrate metabolic disorder 393
            congenital disorder of glycosylation 122
              congenital disorder of glycosylation type II 47
                congenital disorder of glycosylation type IIf 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            carbohydrate metabolic disorder 393
              congenital disorder of glycosylation 122
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIf 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.