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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 IIr
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Accession:DOID:9000744 term browser browse the term
Synonyms:exact_synonym: CDG IIr;   CDG2R;   CDGIIR
 primary_id: OMIM:301045


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Congenital Disorder of Glycosylation Type IIr term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6AP2 ATPase H+ transporting accessory protein 2 ISO ClinVar Annotator: match by term: CDG IIr | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIr OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29127204 NCBI chr  X:35,050,588...35,073,633
Ensembl chr  X:35,050,606...35,073,067 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4881
      congenital disorder of glycosylation 538
        congenital disorder of glycosylation type II 238
          Congenital Disorder of Glycosylation Type IIr 1
Path 2
Term Annotations click to browse term
  disease 17773
    Developmental Disease 17564
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17452
        genetic disease 17430
          inherited metabolic disorder 5529
            carbohydrate metabolic disorder 2720
              congenital disorder of glycosylation 538
                congenital disorder of glycosylation type II 238
                  Congenital Disorder of Glycosylation Type IIr 1
paths to the root