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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation type IIk
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Accession:DOID:0070263 term browser browse the term
Definition:A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM165 on chromosome 4q12. (DO)
Synonyms:exact_synonym: CDG IIk;   CDG syndrome type IIk;   CDG2k;   CDGIIdk;   CDGIIk;   TMEM165-CDG;   carbohydrate deficient glycoprotein syndrome type IIk;   congenital disorder of glycosylation type 2K
 primary_id: OMIM:614727
 alt_id: RDO:9000246
 xref: GARD:12413;   ORDO:314667
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congenital disorder of glycosylation type IIk term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem165 transmembrane protein 165 JBrowse link 14 34,503,037 34,528,262 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    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 IIk 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          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 IIk 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.