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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation Ic
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Accession:DOID:0080555 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31. (DO)
Synonyms:exact_synonym: CDG Ic;   CDG1C;   CDGIc;   CDGS5;   Carbohydrate-deficient glycoprotein syndrome type V;   Congenital Disorder of Glycosylation Type 1C;   carbohydrate-deficient glycoprotein syndrome type I, with deficient glycosylation of dolichol-linked oligosaccharide;   congenital disorder of glycosylation 1c;   congenital disorder of glycosylation, type Ic
 primary_id: MESH:C535741
 alt_id: OMIM:603147;   RDO:0001030
 xref: GARD:9829;   ORDO:79320
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congenital disorder of glycosylation Ic term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg6 ALG6, alpha-1,3-glucosyltransferase JBrowse link 5 118,415,680 118,470,634 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 15639
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        inherited metabolic disorder 1879
          carbohydrate metabolic disorder 326
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type I 59
                congenital disorder of glycosylation Ic 1
Path 2
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          inherited metabolic disorder 1879
            carbohydrate metabolic disorder 326
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type I 59
                  congenital disorder of glycosylation Ic 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.