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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 IIo
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Accession:DOID:0070267 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of CCDC115 on chromosome 2q21.1. (DO)
Synonyms:exact_synonym: CCDC115-CDG;   CDG IIo;   CDG syndrome type IIo;   CDG2O;   CDGIIdo;   CDGIIo;   carbohydrate deficient glycoprotein syndrome type IIo;   congenital disorder of glycosylation type 2O
 primary_id: OMIM:616828
 xref: ORDO:468684
For additional species annotation, visit the Alliance of Genome Resources.



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congenital disorder of glycosylation type IIo term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc115 coiled-coil domain containing 115 ISO ClinVar Annotator: match by term: CCDC115-CDG OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26833332 PMID:29759592 NCBI chr 9:36,650,384...36,654,348
Ensembl chr 9:36,649,271...36,653,946
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type II 106
          congenital disorder of glycosylation type IIo 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          inherited metabolic disorder 4645
            carbohydrate metabolic disorder 2559
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type II 106
                  congenital disorder of glycosylation type IIo 1
paths to the root