ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation type IIg
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Accession:DOID:0070259 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG1 on chromosome 17q25.1. (DO)
Synonyms:exact_synonym: CDG IIG;   CDG2G;   CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME;   CDGIIG;   carbohydrate deficient glycoprotein syndrome type IIg;   congenital disorder of glycosylation type 2G
 primary_id: MESH:C535756
 alt_id: DOID:9003411;   OMIM:611209;   RDO:0001046
 xref: GARD:10226;   ORDO:263508
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congenital disorder of glycosylation type IIg term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog1 component of oligomeric golgi complex 1 JBrowse link 10 102,167,594 102,180,569 RGD:7240710
RGD:8554872
G Fam104a family with sequence similarity 104, member A JBrowse link 10 102,179,478 102,200,488 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14875
    Nutritional and Metabolic Diseases 4249
      disease of metabolism 4249
        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 IIg 2
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          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 IIg 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.