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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;   congenital disorder of glycosylation type 2D
 related_synonym: congenital disorder of glycosylation, type IIID
 primary_id: MESH:C535753
 alt_id: MESH:C564625;   OMIM:607091
 xref: GARD:9841;   ORDO:79332
For additional species annotation, visit the Alliance of Genome Resources.


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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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Path 1
Term Annotations click to browse term
  disease 0
    Nutritional and Metabolic Diseases 4632
      disease of metabolism 4632
        inherited metabolic disorder 2177
          carbohydrate metabolic disorder 384
            congenital disorder of glycosylation 119
              congenital disorder of glycosylation type II 47
                congenital disorder of glycosylation type IId 1
Path 2
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          inherited metabolic disorder 2177
            carbohydrate metabolic disorder 384
              congenital disorder of glycosylation 119
                congenital disorder of glycosylation type II 47
                  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.