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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 IIh
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Accession:DOID:0070260 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. (DO)
Synonyms:exact_synonym: CDG IIIH;   CDG IIh;   CDG2H;   CDGIIH;   CDGIIdh;   COG8-CDG;   carbohydrate deficient glycoprotein syndrome type IIh;   congenital disorder of glycosylation type 2H
 primary_id: MESH:C566987
 alt_id: OMIM:611182
 xref: GARD:12411;   ORDO:95428


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congenital disorder of glycosylation type IIh term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COG8 component of oligomeric golgi complex 8 ISO ClinVar Annotator: match by term: CDG IIh | ClinVar Annotator: match by term: COG8-CDG OMIM
ClinVar		 PMID:16199547 PMID:17220172 PMID:17331980 PMID:21811164 PMID:23806237 More... NCBI chr16:49,702,875...49,713,988
Ensembl chr16:69,089,130...69,100,128
Ensembl chr16:69,089,130...69,100,128 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      congenital disorder of glycosylation 541
        congenital disorder of glycosylation type II 238
          congenital disorder of glycosylation type IIh 1
Path 2
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          inherited metabolic disorder 5523
            carbohydrate metabolic disorder 2685
              congenital disorder of glycosylation 541
                congenital disorder of glycosylation type II 238
                  congenital disorder of glycosylation type IIh 1
paths to the root