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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation Id
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Accession:DOID:0080556 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. (DO)
Synonyms:exact_synonym: CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV;   CDG Id;   CDG1D;   CDGId;   CDGS, TYPE IV;   CDGS4;   Carbohydrate-deficient glycoprotein syndrome, type 4;   Congenital Disorder Of Glycosylation, Type ID;   Congenital Disorder of Glycosylation Type 1D;   congenital disorder of glycosylation 1d
 primary_id: MESH:C535742
 alt_id: DOID:9002680;   OMIM:601110;   RDO:0001031
 xref: GARD:9827;   ORDO:79321
For additional species annotation, visit the Alliance of Genome Resources.


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congenital disorder of glycosylation Id term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg3 ALG3, alpha-1,3- mannosyltransferase JBrowse link 11 83,985,484 83,991,706 RGD:7240710
RGD:8554872

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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 Id 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 Id 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.