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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 IIj
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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 COG4 on chromosome 16q22.1. (DO)
Synonyms:exact_synonym: CDG IIj;   CDG syndrome type IIj;   CDG2J;   CDGIIdj;   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
 primary_id: OMIM:613489
 alt_id: RDO:0009900
 xref: GARD:12412;   ORDO:263501
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:613489
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2J
OMIM
ClinVar
PMID:8074143, PMID:19494034, PMID:19651599, PMID:21185756, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30290151, PMID:31949312, PMID:32078278 NCBI chr19:43,358,057...43,391,828
Ensembl chr19:43,358,057...43,391,828
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          carbohydrate metabolic disorder 386
            congenital disorder of glycosylation 119
              congenital disorder of glycosylation type II 47
                congenital disorder of glycosylation type IIj 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          inherited metabolic disorder 2223
            carbohydrate metabolic disorder 386
              congenital disorder of glycosylation 119
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIj 1
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.