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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 IIn
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Accession:DOID:0070266 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of SLC39A8 on chromosome 4q24. (DO)
Synonyms:exact_synonym: CDG IIn;   CDG syndrome type IIn;   CDG2N;   CDGIIdn;   CDGIIn;   SLC39A8-CDG;   carbohydrate deficient glycoprotein syndrome type IIn;   congenital disorder of glycosylation type 2N
 primary_id: OMIM:616721
 alt_id: RDO:9000375;   RDO:9000405
 xref: ORDO:468699
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation type IIn term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc39a8 solute carrier family 39 member 8 ISO ClinVar Annotator: match by term: SLC39A8-CDG OMIM
ClinVar		 PMID:2809732 PMID:23806086 PMID:24088041 PMID:25687216 PMID:25741868 More... NCBI chr 2:224,171,787...224,319,326
Ensembl chr 2:224,256,654...224,319,129 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type II 106
          congenital disorder of glycosylation type IIn 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            carbohydrate metabolic disorder 2568
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type II 106
                  congenital disorder of glycosylation type IIn 1
paths to the root