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G6PD Deficiency see glucose-6-phosphate dehydrogenase deficiency
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G6PDD see glucose-6-phosphate dehydrogenase deficiency
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GA I see glutaric acidemia type I
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GA II see glutaric acidemia type II
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GAA deficiency see Pompe disease
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Galactokinase Deficiency Disease see galactosemia
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Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease see galactosemia
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Galactose epimerase deficiency see galactosemia
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galactosemia
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galactosialidosis
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Galactosylceramidase Deficiency Disease see Krabbe disease
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Galactosylceramide lipidosis see Krabbe disease
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galactosylcerebrosidase deficiency see Krabbe disease
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galactosylsphingosine lipidosis see Krabbe disease
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GALB deficiency see Schindler disease
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GALC deficiency see Krabbe disease
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GALT Deficiency see galactosemia
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Gamma-hydroxybutyric acidemia see succinic semialdehyde dehydrogenase deficiency
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gamma-hydroxybutyric aciduria see succinic semialdehyde dehydrogenase deficiency
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Gamstorp disease see hyperkalemic periodic paralysis
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Gamstorp episodic adynamy see hyperkalemic periodic paralysis
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GAMT deficiency see guanidinoacetate methyltransferase deficiency
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GAN see giant axonal neuropathy
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Gangliosidoses GM2
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Garland-Moorhouse syndrome see Marinesco-Sjögren syndrome
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Gaucher disease
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Gaucher's Disease see Gaucher disease
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gaze palsy, familial horizontal, with progressive scoliosis see horizontal gaze palsy with progressive scoliosis
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GCL see Krabbe disease
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GD see Gaucher disease
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GDXY see Swyer syndrome
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geleophysic dysplasia
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general fibrosis syndrome see congenital fibrosis of the extraocular muscles
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generalized lipodystrophy see Berardinelli-Seip congenital lipodystrophy
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Genetic Brain Disorders
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genetic emphysema see alpha-1 antitrypsin deficiency
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genetic hemochromatosis see hemochromatosis
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GGM see glucose-galactose malabsorption
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giant axonal neuropathy
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Giedion-Langer Syndrome see Langer-Giedion syndrome
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Gilles de la Tourette Syndrome see Tourette syndrome
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GLA deficiency see Fabry disease
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Glaucoma
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GLD see Krabbe disease
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Glioma, retinal see retinoblastoma
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Glucocerebrosidase deficiency see Gaucher disease
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Glucocerebrosidosis see Gaucher disease
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glucose-6-phosphate dehydrogenase deficiency
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glucose-galactose malabsorption
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glucose transport defect, blood-brain barrier see GLUT1 deficiency syndrome
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glucose transporter protein syndrome see GLUT1 deficiency syndrome
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glucose transporter type 1 deficiency syndrome see GLUT1 deficiency syndrome
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Glucosyl cerebroside lipidosis see Gaucher disease
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Glucosylceramidase deficiency see Gaucher disease
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Glucosylceramide beta-glucosidase deficiency see Gaucher disease
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Glucosylceramide lipidosis see Gaucher disease
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GLUT1 deficiency syndrome
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glutamate formiminotransferase deficiency
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glutaric acidemia type I
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glutaric acidemia type II
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Glutaryl-CoA dehydrogenase deficiency see glutaric acidemia type I
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glutathione synthetase deficiency
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glyceric aciduria see primary hyperoxaluria
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glycine encephalopathy
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glycine N-methyltransferase deficiency see hypermethioninemia
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glycogen storage disease type II see Pompe disease
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glycogenosis Type II see Pompe disease
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glycolic aciduria see primary hyperoxaluria
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glycosylasparaginase deficiency see aspartylglucosaminuria
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GM2 Activator Deficiency Disease see GM2-gangliosidosis, AB variant
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GM2-gangliosidosis, AB variant
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GM2 gangliosidosis, type 1 see Tay-Sachs disease
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GM2 gangliosidosis, type 2 see Sandhoff disease
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GM2 Gangliosidosis, Type II see Sandhoff disease
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GNMT deficiency see hypermethioninemia
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Goiter-deafness syndrome see Pendred syndrome
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Goldberg syndrome see galactosialidosis
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Goltz-Gorlin syndrome see focal dermal hypoplasia
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Goltz Syndrome see focal dermal hypoplasia
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Gonadal Dysgenesis, 46,XY see Swyer syndrome
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GONADAL DYSGENESIS, XY FEMALE TYPE see Swyer syndrome
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Gorlin syndrome
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Gout
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gout, PRPS-related see phosphoribosylpyrophosphate synthetase superactivity
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Graefe-Usher syndrome see Usher syndrome
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Greenfield Disease see metachromatic leukodystrophy
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Greig cephalopolysyndactyly syndrome
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Gronblad-Strandberg Syndrome see pseudoxanthoma elasticum
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Growth Disorders
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GSD II see Pompe disease
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GSD2 see Pompe disease
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GTPS see GLUT1 deficiency syndrome
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GTS see Tourette syndrome
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guanidinoacetate methyltransferase deficiency
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Gum Disease
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Gyrate Atrophy see gyrate atrophy of the choroid and retina
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gyrate atrophy of the choroid and retina
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