ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation type IIh
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Accession:DOID:0070260 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in a mutation of COG8 on chromosome 16q22.1. (DO)
Synonyms:exact_synonym: CDG IIIH;   CDG IIh;   CDG2H;   CDGIIH;   CDGIIdh;   COG8-CDG;   carbohydrate deficient glycoprotein syndrome type IIh;   congenital disorder of glycosylation type 2H
 primary_id: MESH:C566987
 alt_id: DOID:9002568;   OMIM:611182;   RDO:0015179
 xref: GARD:12411;   ORDO:95428
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congenital disorder of glycosylation type IIh term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog8 component of oligomeric golgi complex 8 JBrowse link 19 39,246,656 39,257,406 RGD:7240710
RGD:8554872
G Nip7 nucleolar pre-rRNA processing protein NIP7 JBrowse link 19 39,257,586 39,259,728 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 IIh 2
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 IIh 2
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