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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation Ir
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Accession:DOID:0080569 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: CDG1R;   Congenital Disorder of Glycosylation Type 1R;   Congenital Disorder of Glycosylation, Type Ir;   congenital disorder of glycosylation 1r
 primary_id: OMIM:614507
 alt_id: DOID:9004752;   RDO:9000248
 xref: GARD:12398;   ORDO:300536
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation Ir term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit JBrowse link 5 156,668,924 156,676,036 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          carbohydrate metabolic disorder 320
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type I 59
                congenital disorder of glycosylation Ir 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          inherited metabolic disorder 1864
            carbohydrate metabolic disorder 320
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type I 59
                  congenital disorder of glycosylation Ir 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.