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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:congenital disorder of glycosylation Iw
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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 1w;   congenital disorder of glycosylation type 1W;   congenital disorder of glycosylation, type Iw
 primary_id: OMIM:615596
 xref: ORDO:370921
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation Iw term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stt3a STT3 oligosaccharyltransferase complex catalytic subunit A ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1w OMIM
ClinVar
PMID:23842455 NCBI chr 8:39,204,218...39,243,751
Ensembl chr 8:39,181,163...39,243,882
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          carbohydrate metabolic disorder 386
            congenital disorder of glycosylation 119
              congenital disorder of glycosylation type I 68
                congenital disorder of glycosylation Iw 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          inherited metabolic disorder 2223
            carbohydrate metabolic disorder 386
              congenital disorder of glycosylation 119
                congenital disorder of glycosylation type I 68
                  congenital disorder of glycosylation Iw 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.