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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation type IIj
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Accession:DOID:0070262 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG4 on chromosome 16q22.1. (DO)
Synonyms:exact_synonym: CDG IIj;   CDG syndrome type IIj;   CDG2J;   CDGIIdj;   CDGIIj;   COG4-CDG;   carbohydrate deficient glycoprotein syndrome type IIj;   congenital disorder of glycosylation type 2J
 narrow_synonym: COG4-related congenital disorder of glycosylation, autosomal dominant
 primary_id: OMIM:613489
 alt_id: RDO:0009900
 xref: GARD:12412;   ORDO:263501
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congenital disorder of glycosylation type IIj term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog4 component of oligomeric golgi complex 4 JBrowse link 19 43,358,057 43,391,828 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15599
    Nutritional and Metabolic Diseases 4365
      disease of metabolism 4365
        inherited metabolic disorder 1858
          carbohydrate metabolic disorder 321
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type II 38
                congenital disorder of glycosylation type IIj 1
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          inherited metabolic disorder 1858
            carbohydrate metabolic disorder 321
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type II 38
                  congenital disorder of glycosylation type IIj 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.