Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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;   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
 broad_synonym: COG4-RELATED CONDITION
 xref: GARD:12412;   MIM:613489;   MONDO:0013281;   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 | ClinVar Annotator: match by term: COG4-related condition OMIM
ClinVar		 PMID:8074143 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19494034 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 19104
    physical disorder 5185
      congenital disorder of glycosylation 585
        congenital disorder of glycosylation type II 242
          congenital disorder of glycosylation type IIj 3
Path 2
Term Annotations click to browse term
  disease 19104
    Developmental Disease 14615
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          inherited metabolic disorder 6608
            carbohydrate metabolic disorder 3411
              congenital disorder of glycosylation 585
                congenital disorder of glycosylation type II 242
                  congenital disorder of glycosylation type IIj 3
paths to the root