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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 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        inherited metabolic disorder 2231
          carbohydrate metabolic disorder 387
            congenital disorder of glycosylation 120
              congenital disorder of glycosylation type II 47
                congenital disorder of glycosylation type IIi 3
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          inherited metabolic disorder 2231
            carbohydrate metabolic disorder 387
              congenital disorder of glycosylation 120
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIi 3
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.