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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 chr28:20,678,584...20,699,957
Ensembl chr28:20,680,293...20,699,927 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    physical disorder 4829
      congenital disorder of glycosylation 532
        congenital disorder of glycosylation type II 231
          Congenital Disorder of Glycosylation Type IIy 1
Path 2
Term Annotations click to browse term
  disease 15274
    Developmental Disease 13266
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12392
        genetic disease 12047
          inherited metabolic disorder 5488
            carbohydrate metabolic disorder 2701
              congenital disorder of glycosylation 532
                congenital disorder of glycosylation type II 231
                  Congenital Disorder of Glycosylation Type IIy 1
paths to the root