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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 Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation ClinVar PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cog7 component of oligomeric golgi complex 7 ISO ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation OMIM
ClinVar		 PMID:9536098 PMID:15107842 PMID:16199547 PMID:17356545 PMID:17395513 More... NCBI chr 1:176,489,795...176,549,455
Ensembl chr 1:176,489,791...176,549,455 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type II 106
          congenital disorder of glycosylation type IIe 2
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            carbohydrate metabolic disorder 2568
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type II 106
                  congenital disorder of glycosylation type IIe 2
paths to the root