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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 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        inherited metabolic disorder 2231
          carbohydrate metabolic disorder 387
            congenital disorder of glycosylation 120
              congenital disorder of glycosylation type II 47
                congenital disorder of glycosylation type IIq 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          inherited metabolic disorder 2231
            carbohydrate metabolic disorder 387
              congenital disorder of glycosylation 120
                congenital disorder of glycosylation type II 47
                  congenital disorder of glycosylation type IIq 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.