Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation Iw
go back to main search page
Accession:DOID:0080572 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24. (DO)
Synonyms:exact_synonym: CDG Iw;   CDG1W;   CDGIw;   Congenital Disorder of Glycosylation Type 1W;   Congenital Disorder of Glycosylation, Type Iw;   congenital disorder of glycosylation 1w
 primary_id: OMIM:615596
 alt_id: DOID:9000446;   RDO:9001008
 xref: ORDO:370921
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
congenital disorder of glycosylation Iw term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A JBrowse link 8 39,204,218 39,243,751 RGD:7240710
RGD:8554872

Term paths to the root
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 Iw 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 Iw 1
paths to the root

NHLBI Logo

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