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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 Type IIy
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Accession:DOID:9007056 term browser browse the term
Definition:An autosomal recessive multisystemic congenital disorder characterized by poor overall growth and global developmental delay with impaired intellectual development. Caused by compound heterozygous mutations in the GET4 gene on chromosome 7p22.
Synonyms:exact_synonym: CDG IIy;   CDG2Y;   CDGIIY
 primary_id: OMIM:620200


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Congenital Disorder of Glycosylation Type IIy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Get4 guided entry of tail-anchored proteins factor 4 ISO ClinVar Annotator: match by term: CDG IIy OMIM
ClinVar
PMID:25741868 PMID:32395830 NCBI chrNW_004624740:26,465,497...26,479,332
Ensembl chrNW_004624740:26,465,483...26,479,337
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14090
    physical disorder 4599
      congenital disorder of glycosylation 518
        congenital disorder of glycosylation type II 230
          Congenital Disorder of Glycosylation Type IIy 1
Path 2
Term Annotations click to browse term
  disease 14090
    Developmental Disease 12292
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11533
        genetic disease 11224
          inherited metabolic disorder 5156
            carbohydrate metabolic disorder 2556
              congenital disorder of glycosylation 518
                congenital disorder of glycosylation type II 230
                  Congenital Disorder of Glycosylation Type IIy 1
paths to the root