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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 Ir
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Accession:DOID:0080569 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: CDG1R;   congenital disorder of glycosylation 1r;   congenital disorder of glycosylation type 1R;   congenital disorder of glycosylation, type Ir
 primary_id: OMIM:614507
 xref: GARD:12398;   ORDO:300536
For additional species annotation, visit the Alliance of Genome Resources.



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congenital disorder of glycosylation Ir term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddost dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir OMIM
ClinVar
PMID:22305527 PMID:25741868 PMID:28492532 PMID:34462534 NCBI chr 5:150,522,297...150,529,413
Ensembl chr 5:150,522,242...150,529,413
JBrowse link
G Pink1 PTEN induced kinase 1 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type Ir ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:150,530,523...150,542,635
Ensembl chr 5:150,530,523...150,542,635
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital disorder of glycosylation 301
        congenital disorder of glycosylation type I 136
          congenital disorder of glycosylation Ir 2
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          inherited metabolic disorder 4673
            carbohydrate metabolic disorder 2568
              congenital disorder of glycosylation 301
                congenital disorder of glycosylation type I 136
                  congenital disorder of glycosylation Ir 2
paths to the root