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: DOID:9003246;   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

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Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        inherited metabolic disorder 1808
          carbohydrate metabolic disorder 302
            congenital disorder of glycosylation 83
              congenital disorder of glycosylation type II 37
                congenital disorder of glycosylation type IIq 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            carbohydrate metabolic disorder 302
              congenital disorder of glycosylation 83
                congenital disorder of glycosylation type II 37
                  congenital disorder of glycosylation type IIq 1
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