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

ONTOLOGY REPORT - ANNOTATIONS


Term:Congenital Disorder of Glycosylation Type 1B
go back to main search page
Accession:DOID:9005184 term browser browse the term
Synonyms:exact_synonym: CDG Ib;   CDG, GASTROINTESTINAL TYPE;   CDG1B;   CDGIb;   CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib;   Carbohydrate-deficient glycoprotein syndrome type 1B;   MPI DEFICIENCY;   Mannosephosphate isomerase deficiency;   Protein-losing enteropathy-hepatic fibrosis syndrome;   SLSJ SYNDROME;   Saguenay-Lac Saint-Jean syndrome
 primary_id: MESH:C535740;   RDO:0001029
 alt_id: OMIM:602579
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 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpi mannose phosphate isomerase JBrowse link 8 62,324,176 62,332,080 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Nutritional and Metabolic Diseases 4280
      disease of metabolism 4280
        inherited metabolic disorder 1829
          carbohydrate metabolic disorder 304
            congenital disorder of glycosylation 84
              congenital disorder of glycosylation type I 36
                Congenital Disorder of Glycosylation Type 1B 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        genetic disease 6469
          inherited metabolic disorder 1829
            carbohydrate metabolic disorder 304
              congenital disorder of glycosylation 84
                congenital disorder of glycosylation type I 36
                  Congenital Disorder of Glycosylation Type 1B 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.