ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation type IIi
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Accession:DOID:0070261 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG5 on chromosome 7q22.3. (DO)
Synonyms:exact_synonym: CDG IIi;   CDG syndrome type IIi;   CDG2I;   CDGIIdi;   CDGIIi;   COG5-CDG;   carbohydrate deficient glycoprotein syndrome type IIi;   congenital disorder of glycosylation type 2I
 primary_id: OMIM:613612
 alt_id: DOID:9003540;   RDO:0009919
 xref: GARD:12348;   ORDO:263487
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congenital disorder of glycosylation type IIi term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog5 component of oligomeric golgi complex 5 JBrowse link 6 50,953,868 51,230,860 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          carbohydrate metabolic disorder 302
            congenital disorder of glycosylation 83
              congenital disorder of glycosylation type II 37
                congenital disorder of glycosylation type IIi 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            carbohydrate metabolic disorder 302
              congenital disorder of glycosylation 83
                congenital disorder of glycosylation type II 37
                  congenital disorder of glycosylation type IIi 1
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