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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 IIb
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Accession:DOID:0070254 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of MOGS on chromosome 2p13.1. (DO)
Synonyms:exact_synonym: CDG IIB;   CDG2B;   CDGIIB;   congenital disorder of glycosylation type 2B;   glucosidase I deficiency
 primary_id: MESH:C565264
 alt_id: OMIM:606056
 xref: GARD:10767;   ORDO:79330
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation type IIb term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mogs mannosyl-oligosaccharide glucosidase ISO ClinVar Annotator: match by OMIM:606056
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2B
OMIM
ClinVar
PMID:10788335 PMID:24716661 PMID:25741868 PMID:26805780 PMID:28492532 PMID:29235540 PMID:32860008 NCBI chr 4:113,948,328...113,951,731
Ensembl chr 4:113,948,514...113,951,847
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital disorder of glycosylation 125
        congenital disorder of glycosylation type II 47
          congenital disorder of glycosylation type IIb 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          inherited metabolic disorder 2235
            carbohydrate metabolic disorder 399
              congenital disorder of glycosylation 125
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIb 1
paths to the root