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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 IIq
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Accession:DOID:0070269 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG2 on chromosome 1q42.2. (DO)
Synonyms:exact_synonym: CDG IIq;   CDG2Q;   CDGIIdq;   CDGIIq;   COG2-CDG;   COG2-related congenital disorder of glycosylation;   congenital disorder of glycosylation type 2Q
 primary_id: OMIM:617395
 alt_id: RDO:9001740
 xref: ORDO:435934
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation type IIq term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog2 component of oligomeric golgi complex 2 ISO ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq ClinVar
OMIM
PMID:24784932 PMID:28492532 NCBI chr19:57,286,955...57,322,853
Ensembl chr19:57,286,985...57,319,329
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital disorder of glycosylation 124
        congenital disorder of glycosylation type II 47
          congenital disorder of glycosylation type IIq 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          inherited metabolic disorder 2255
            carbohydrate metabolic disorder 398
              congenital disorder of glycosylation 124
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIq 1
paths to the root