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ONTOLOGY REPORT - ANNOTATIONS


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
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congenital disorder of glycosylation type IIq term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog2 component of oligomeric golgi complex 2 JBrowse link 19 57,286,955 57,322,853 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          carbohydrate metabolic disorder 320
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type II 38
                congenital disorder of glycosylation type IIq 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          inherited metabolic disorder 1864
            carbohydrate metabolic disorder 320
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type II 38
                  congenital disorder of glycosylation type IIq 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.