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expanddisease of catalytic activity (MONDO:0044976)
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expandglycogen storage disease (MONDO:0002412)
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expandnephropathy secondary to a storage or other metabolic disease (MONDO:0019743)
..Starting node
..expandglycogen storage disease I ()

       Child Nodes:
........expandglycogen storage disease due to glucose-6-phosphatase deficiency type IA ()
........expandglycogen storage disease type 1 due to SLC37A4 mutation ()



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..expandadenine phosphoribosyltransferase deficiency ()
..expandalpha 1-antitrypsin deficiency ()
..expandamelogenesis imperfecta type 1G ()
..expandautosomal recessive infantile hypercalcemia ()
..expandcongenital disorder of glycosylation with nephropathy as a major feature ()
..expandFabry disease ()
..expandfamilial renal glucosuria ()
..expandgalactosemia ()
..expandglycogen storage disease due to GLUT2 deficiency ()
..expandglycogen storage disease I ()
..expandHartnup disease ()
..expandhereditary fructose intolerance ()
..expandhereditary xanthinuria ()
..expandhypoxanthine-guanine phosphoribosyltransferase deficiency ()
..expandImerslund-Grasbeck syndrome ()
..expandjuvenile cataract-microcornea-renal glucosuria syndrome ()
..expandjuvenile nephropathic cystinosis ()
..expandLCAT deficiency ()
..expandmethylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ()
..expandnephropathic infantile cystinosis ()
..expandphosphoribosylpyrophosphate synthetase superactivity ()
..expandprimary hyperoxaluria ()
..expandproximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome ()  LSDB  L: 00144;
..expandsialidosis type 2 ()
..expandtyrosinemia type I ()
..expandvitamin B12-responsive methylmalonic acidemia ()
..expandWilson disease ()
..expandZellweger syndrome ()
   

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Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2413
Name:glycogen storage disease I
Definition:Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver.
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Synonyms:deficiency of glucose-6-phosphatase; G6P deficiency; glycogen storage disease due to G6P deficiency; glycogen storage disease due to glucose-6-phosphatase deficiency; glycogen storage disease type 1; glycogen storage disease type I; glycogen storage disease, type I; glycogenosis type 1; glycogenosis
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