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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 IIj
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Accession:DOID:0070262 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1. (DO)
Synonyms:exact_synonym: CDG IIj;   CDG syndrome type IIj;   CDG2J;   CDGIIdj;   CDGIIj;   COG4-CDG;   carbohydrate deficient glycoprotein syndrome type IIj;   congenital disorder of glycosylation type 2J
 narrow_synonym: COG4-related congenital disorder of glycosylation, autosomal dominant
 primary_id: OMIM:613489
 xref: GARD:12412;   ORDO:263501


show annotations for term's descendants           Sort by:
congenital disorder of glycosylation type IIj term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: COG4-CDG
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8074143 PMID:16199547 PMID:19494034 PMID:19651599 PMID:21185756 More... NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796 		JBrowse link
G Fcsk fucose kinase ISO ClinVar Annotator: match by term: COG4-CDG ClinVar PMID:19494034 NCBI chr19:38,849,130...38,874,497
Ensembl chr19:38,854,762...38,874,418 		JBrowse link
G St3gal2 ST3 beta-galactoside alpha-2,3-sialyltransferase 2 ISO ClinVar Annotator: match by term: COG4-CDG ClinVar PMID:19494034 NCBI chr19:38,888,851...38,939,874
Ensembl chr19:38,923,999...38,939,869 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    physical disorder 4884
      congenital disorder of glycosylation 537
        congenital disorder of glycosylation type II 236
          congenital disorder of glycosylation type IIj 3
Path 2
Term Annotations click to browse term
  disease 21112
    Developmental Disease 18434
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18288
        genetic disease 18231
          inherited metabolic disorder 6169
            carbohydrate metabolic disorder 3227
              congenital disorder of glycosylation 537
                congenital disorder of glycosylation type II 236
                  congenital disorder of glycosylation type IIj 3
paths to the root