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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 IIe
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Accession:DOID:0070257 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG7 on chromosome 16p12.2. (DO)
Synonyms:exact_synonym: CDG IIE;   CDG syndrome type IIe;   CDG2E;   CDGIIE;   CDGIIde;   COG7 CONGENITAL DISORDER OF GLYCOSYLATION;   COG7-CDG;   Carbohydrate deficient glycoprotein syndrome type IIe;   congenital disorder of glycosylation type 2E
 primary_id: MESH:C535754
 alt_id: OMIM:608779;   RDO:0001044
 xref: GARD:9842;   ORDO:79333
For additional species annotation, visit the Alliance of Genome Resources.

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congenital disorder of glycosylation type IIe term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog7 component of oligomeric golgi complex 7 ISO ClinVar Annotator: match by OMIM:608779
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2E
ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation		 OMIM
ClinVar		 PMID:15107842 PMID:17356545 PMID:17395513 PMID:19577670 PMID:21811164 PMID:25741868 PMID:25741869 PMID:28492532 NCBI chr 1:191,889,332...191,948,977
Ensembl chr 1:191,857,556...191,948,977 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital disorder of glycosylation 127
        congenital disorder of glycosylation type II 47
          congenital disorder of glycosylation type IIe 1
Path 2
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          inherited metabolic disorder 2234
            carbohydrate metabolic disorder 399
              congenital disorder of glycosylation 127
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIe 1
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