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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 COG5 on chromosome 7q22.3. (DO)
Synonyms:exact_synonym: CDG IIi;   CDG syndrome type IIi;   CDG2I;   CDGIIdi;   CDGIIi;   COG5-CDG;   carbohydrate deficient glycoprotein syndrome type IIi;   congenital disorder of glycosylation type 2I
 primary_id: OMIM:613612
 xref: GARD:12348;   ORDO:263487
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation type IIi term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog5 component of oligomeric golgi complex 5 ISO ClinVar Annotator: match by term: COG5-CDG OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19690088 PMID:23228021 More... NCBI chr 6:48,242,470...48,545,185
Ensembl chr 6:48,242,482...48,529,009 		JBrowse link
G Dus4l dihydrouridine synthase 4-like ISO ClinVar Annotator: match by term: COG5-CDG ClinVar PMID:23228021 PMID:25741868 PMID:28492532 NCBI chr 6:48,228,111...48,242,553
Ensembl chr 6:48,228,111...48,242,449 		JBrowse link
G Gpr22 G protein-coupled receptor 22 ISO ClinVar Annotator: match by term: COG5-CDG ClinVar PMID:23228021 PMID:28492532 NCBI chr 6:48,309,619...48,317,864
Ensembl chr 6:48,310,505...48,317,486 		JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO ClinVar Annotator: match by term: COG5-CDG ClinVar NCBI chr 6:48,529,633...48,555,775
Ensembl chr 6:48,529,372...48,555,787 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    physical disorder 4194
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type II 106
          congenital disorder of glycosylation type IIi 4
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          inherited metabolic disorder 4673
            carbohydrate metabolic disorder 2567
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type II 106
                  congenital disorder of glycosylation type IIi 4
paths to the root