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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 the CCDC115 gene 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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CCDC115-CDG		 OMIM
CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:26833332 PMID:28492532 PMID:29759592 More... NCBI chr 9:36,650,384...36,654,348
Ensembl chr 9:36,649,271...36,653,946 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital disorder of glycosylation 540
        congenital disorder of glycosylation type II 237
          congenital disorder of glycosylation type IIo 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          inherited metabolic disorder 6256
            carbohydrate metabolic disorder 3309
              congenital disorder of glycosylation 540
                congenital disorder of glycosylation type II 237
                  congenital disorder of glycosylation type IIo 1
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