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ONTOLOGY REPORT - ANNOTATIONS
Term:congenital disorder of glycosylation type IIe
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Accession:DOID:0070257 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG7 on chromosome 16p12.2. (DO)
Synonyms:exact_synonym: CDG IIE;   CDG syndrome type IIe;   CDG2E;   CDGIIE;   CDGIIde;   COG7 CONGENITAL DISORDER OF GLYCOSYLATION;   COG7-CDG;   Carbohydrate deficient glycoprotein syndrome type IIe;   congenital disorder of glycosylation type 2E
 primary_id: MESH:C535754
 alt_id: OMIM:608779;   RDO:0001044
 xref: GARD:9842;   ORDO:79333
For additional species annotation, visit the Alliance of Genome Resources.

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congenital disorder of glycosylation type IIe term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog7 component of oligomeric golgi complex 7 JBrowse link 1 191,889,332 191,948,977 RGD:7240710
RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          carbohydrate metabolic disorder 320
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type II 38
                congenital disorder of glycosylation type IIe 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          inherited metabolic disorder 1864
            carbohydrate metabolic disorder 320
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type II 38
                  congenital disorder of glycosylation type IIe 1
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