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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 IIi
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Accession:DOID:0070261 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. (DO)
Synonyms:exact_synonym: CDG IIi;   CDG syndrome type IIi;   CDG2I;   CDGIIi;   COG5-CDG;   COG5-congenital disorder of glycosylation;   carbohydrate deficient glycoprotein syndrome type IIi;   congenital disorder of glycosylation type 2I
 xref: GARD:12348;   MIM:613612;   MONDO:0013325;   ORDO:263487


show annotations for term's descendants           Sort by:
congenital disorder of glycosylation type IIi term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcap29 B-cell receptor-associated protein 29 ISO ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation ClinVar PMID:23228021 PMID:28492532 NCBI chr 6:48,182,702...48,222,698
Ensembl chr 6:53,910,216...53,949,963 		JBrowse link
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: COG5-CDG | ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19690088 PMID:23228021 More... NCBI chr 6:53,969,967...54,267,869
Ensembl chr 6:53,969,979...54,278,973 		JBrowse link
G Dus4l dihydrouridine synthase 4-like ISO ClinVar Annotator: match by term: COG5-CDG | ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation ClinVar PMID:23228021 PMID:25741868 PMID:28492532 NCBI chr 6:48,228,111...48,242,553
Ensembl chr 6:53,955,609...53,970,087 		JBrowse link
G Gpr22 G protein-coupled receptor 22 ISO ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation ClinVar PMID:23228021 PMID:28492532 NCBI chr 6:48,309,619...48,317,864
Ensembl chr 6:54,037,552...54,045,020 		JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation ClinVar NCBI chr 6:48,529,633...48,555,775
Ensembl chr 6:54,256,864...54,283,366 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation ClinVar PMID:23228021 PMID:28492532 NCBI chr 6:53,835,102...53,873,968
Ensembl chr 6:53,835,110...53,873,216 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      congenital disorder of glycosylation 585
        congenital disorder of glycosylation type II 242
          congenital disorder of glycosylation type IIi 6
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            carbohydrate metabolic disorder 3440
              congenital disorder of glycosylation 585
                congenital disorder of glycosylation type II 242
                  congenital disorder of glycosylation type IIi 6
paths to the root