Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation Ie
go back to main search page
Accession:DOID:0080557 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13. (DO)
Synonyms:exact_synonym: CDG Ie;   CDG1E;   CDGIe;   Congenital Disorder of Glycosylation Type 1E;   Congenital Disorder of Glycosylation, Type IE;   congenital disorder of glycosylation 1e
 primary_id: MESH:C535743
 alt_id: DOID:9004007;   OMIM:608799;   RDO:0001032
 xref: GARD:9831;   ORDO:79322
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 Ie term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpm1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic JBrowse link 3 164,966,637 164,986,180 RGD:7240710
RGD:8554872

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 I 59
                congenital disorder of glycosylation Ie 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 I 59
                  congenital disorder of glycosylation Ie 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.