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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 I/IIx
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Accession:DOID:9002397 term browser browse the term
Definition:Untyped and unclassified cases of Congenital Disorder of Glycosylation. (OMIM)
Synonyms:exact_synonym: CDG-x
 primary_id: MESH:C562844
 alt_id: OMIM:212067;   RDO:0012390


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital disorder of glycosylation 539
        Congenital Disorder of Glycosylation, Type I/IIx 0
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          inherited metabolic disorder 6212
            carbohydrate metabolic disorder 3265
              congenital disorder of glycosylation 539
                Congenital Disorder of Glycosylation, Type I/IIx 0
paths to the root