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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;   CDG syndrome type Iw;   CDG1W;   CDGIw;   congenital disorder of glycosylation 1w;   congenital disorder of glycosylation type 1W;   congenital disorder of glycosylation, type Iw
 narrow_synonym: CDG1WAD;   CDG1WAR;   congenital disorder of glycosylation, type Iw, autosomal dominant;   congenital disorder of glycosylation, type Iw, autosomal recessive
 primary_id: OMIM:615596
 alt_id: OMIM:619714
 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 | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Iw, autosomal dominant OMIM
ClinVar
PMID:23842455 PMID:25741868 PMID:28424003 PMID:28492532 PMID:34653363 NCBI chr 8:36,443,623...36,483,111
Ensembl chr 8:36,446,788...36,483,293
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type I 136
          congenital disorder of glycosylation Iw 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            carbohydrate metabolic disorder 2568
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type I 136
                  congenital disorder of glycosylation Iw 1
paths to the root