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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Mogs mannosyl-oligosaccharide glucosidase JBrowse link 4 113,948,328 113,951,731 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    Nutritional and Metabolic Diseases 4632
      disease of metabolism 4632
        inherited metabolic disorder 2177
          carbohydrate metabolic disorder 384
            congenital disorder of glycosylation 119
              congenital disorder of glycosylation type II 47
                congenital disorder of glycosylation type IIb 1
Path 2
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          inherited metabolic disorder 2177
            carbohydrate metabolic disorder 384
              congenital disorder of glycosylation 119
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIb 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.