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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation type IIn
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Accession:DOID:0070266 term browser browse the term
Definition:An autosomal recessive severe multisystem developmental disorder characterized by delayed psychomotor development apparent from infancy, hypotonia, and variable additional features, such as short stature, seizures, visual impairment, and cerebellar atrophy. (OMIM)
Synonyms:exact_synonym: CDG IIn;   CDG syndrome type IIn;   CDG2N;   CDGIIdn;   CDGIIn;   SLC39A8-CDG;   carbohydrate deficient glycoprotein syndrome type IIn;   congenital disorder of glycosylation type 2N
 primary_id: OMIM:616721
 alt_id: DOID:9006466;   RDO:9000375;   RDO:9000405
 xref: ORDO:468699
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation type IIn term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc39a8 solute carrier family 39 member 8 JBrowse link 2 241,028,851 241,092,584 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 IIn 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 IIn 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.