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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 IIw
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Accession:DOID:9002132 term browser browse the term
Definition:An autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. Caused by a heterozygous mutation in the G6PT1 gene, which encodes glucose-6-phosphate translocase, on chromosome 11q23. (OMIM)
Synonyms:exact_synonym: CDG2W
 primary_id: MIM:619525


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    physical disorder 5185
      congenital disorder of glycosylation 585
        congenital disorder of glycosylation type II 242
          Congenital Disorder of Glycosylation Type IIw 1
Path 2
Term Annotations click to browse term
  disease 19104
    Developmental Disease 14615
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          inherited metabolic disorder 6608
            carbohydrate metabolic disorder 3411
              congenital disorder of glycosylation 585
                congenital disorder of glycosylation type II 242
                  Congenital Disorder of Glycosylation Type IIw 1
paths to the root