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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation It
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Accession:DOID:0080570 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. (DO)
Synonyms:exact_synonym: CDG It;   CDG1T;   CDGIt;   CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It;   GSD XIV;   GSD14;   Glycogen Storage Disease XIV;   PGM1 Deficiency;   Phosphoglucomutase 1 Deficiency;   congenital disorder of glycosylation 1t
 primary_id: MESH:C567859
 alt_id: DOID:9007677;   OMIM:614921;   RDO:0015761
 xref: ORDO:319646
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congenital disorder of glycosylation It term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pgm1 phosphoglucomutase 1 JBrowse link 5 118,743,632 118,803,055 RGD:8554872
RGD:7240710

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  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          carbohydrate metabolic disorder 320
            glycogen storage disease 40
              congenital disorder of glycosylation It 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
              glycogen metabolism disorder 40
                glycogen storage disease 40
                  congenital disorder of glycosylation It 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.