ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation type IIl
go back to main search page
Accession:DOID:0070264 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of COG6 on chromosome 13q14.11. (DO)
Synonyms:exact_synonym: CDG IIl;   CDG syndrome type IIL;   CDG2L;   CDGIIdl;   CDGIIl;   COG6-CGD;   congenital disorder of glycosylation type 2L
 primary_id: OMIM:614576
 alt_id: DOID:9008663;   RDO:9000247
 xref: GARD:10944;   ORDO:464443
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
congenital disorder of glycosylation type IIl term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog6 component of oligomeric golgi complex 6 JBrowse link 2 142,197,566 142,235,054 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
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 IIl 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 IIl 1
paths to the root

NHLBI Logo

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