ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation type IId
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Accession:DOID:0070256 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of B4GALT1 on chromosome 9p21.1. (DO)
Synonyms:exact_synonym: CDG IID;   CDG2D;   CDGIID;   CDGIId\n;   Congenital Disorder of Glycosylation Type 2D
 related_synonym: Congenital Disorder Of Glycosylation, Type IIID
 primary_id: MESH:C535753
 alt_id: MESH:C564625;   OMIM:607091;   RDO:0001043;   RDO:0013520
 xref: GARD:9841;   ORDO:79332
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congenital disorder of glycosylation type IId term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4galt1 beta-1,4-galactosyltransferase 1 JBrowse link 5 57,121,768 57,168,610 RGD:7240710
RGD:8554872

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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 IId 1
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 IId 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.