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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 OMIM:613612
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2i		 OMIM
ClinVar		 PMID:19690088 PMID:23228021 PMID:23430875 PMID:24033266 PMID:25331899 PMID:25741868 PMID:28492532 PMID:28708303 PMID:31572517 PMID:32174980 NCBI chr 6:50,953,868...51,230,860
Ensembl chr 6:50,954,631...51,230,701 		JBrowse link
G Dus4l dihydrouridine synthase 4-like ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2i ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:50,925,987...50,943,546
Ensembl chr 6:50,928,397...50,943,488 		JBrowse link
G Hbp1 HMG-box transcription factor 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2i ClinVar NCBI chr 6:51,231,479...51,257,699
Ensembl chr 6:51,231,480...51,257,625 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital disorder of glycosylation 124
        congenital disorder of glycosylation type II 47
          congenital disorder of glycosylation type IIi 3
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            carbohydrate metabolic disorder 398
              congenital disorder of glycosylation 124
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIi 3
paths to the root