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

ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation If
go back to main search page
Accession:DOID:0080558 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CDG If;   CDG1F;   CDGIf;   Congenital Disorder of Glycosylation Type 1F;   Congenital Disorder of Glycosylation, Type IF;   congenital disorder of glycosylation 1f
 primary_id: MESH:C535744
 alt_id: DOID:9007453;   OMIM:609180;   RDO:0001033
 xref: GARD:9832;   ORDO:79323
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 If term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mpdu1 mannose-P-dolichol utilization defect 1 JBrowse link 10 56,261,636 56,267,213 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 I 59
                congenital disorder of glycosylation If 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 I 59
                  congenital disorder of glycosylation If 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.