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Y-Z
G6PD Deficiency
see
glucose-6-phosphate dehydrogenase deficiency
G6PDD
see
glucose-6-phosphate dehydrogenase deficiency
GA I
see
glutaric acidemia type I
GA II
see
glutaric acidemia type II
GAA deficiency
see
Pompe disease
Galactokinase Deficiency Disease
see
galactosemia
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
see
galactosemia
Galactose epimerase deficiency
see
galactosemia
galactosemia
galactosialidosis
Galactosylceramidase Deficiency Disease
see
Krabbe disease
Galactosylceramide lipidosis
see
Krabbe disease
galactosylcerebrosidase deficiency
see
Krabbe disease
galactosylsphingosine lipidosis
see
Krabbe disease
GALB deficiency
see
Schindler disease
GALC deficiency
see
Krabbe disease
GALT Deficiency
see
galactosemia
Gamma-hydroxybutyric acidemia
see
succinic semialdehyde dehydrogenase deficiency
gamma-hydroxybutyric aciduria
see
succinic semialdehyde dehydrogenase deficiency
Gamstorp disease
see
hyperkalemic periodic paralysis
Gamstorp episodic adynamy
see
hyperkalemic periodic paralysis
GAMT deficiency
see
guanidinoacetate methyltransferase deficiency
GAN
see
giant axonal neuropathy
Garland-Moorhouse syndrome
see
Marinesco-Sjögren syndrome
gastrointestinal stromal tumor
GATA1-related cytopenia
see
dyserythropoietic anemia and thrombocytopenia
GATA1-related X-linked cytopenia
see
dyserythropoietic anemia and thrombocytopenia
GATM deficiency
see
arginine:glycine amidinotransferase deficiency
Gaucher disease
Gaucher's Disease
see
Gaucher disease
gaze palsy, familial horizontal, with progressive scoliosis
see
horizontal gaze palsy with progressive scoliosis
GBS
see
Guillain-Barré syndrome
GCL
see
Krabbe disease
GD
see
Gaucher disease
GDXY
see
Swyer syndrome
geleophysic dysplasia
Gelineau syndrome
see
narcolepsy
gelsolin-related amyloidosis
see
lattice corneal dystrophy type II
Genee-Wiedemann acrofacial dysostosis
see
Miller syndrome
Genee-Wiedemann syndrome
see
Miller syndrome
general fibrosis syndrome
see
congenital fibrosis of the extraocular muscles
generalized lipodystrophy
see
Berardinelli-Seip congenital lipodystrophy
Genetic Brain Disorders
genetic emphysema
see
alpha-1 antitrypsin deficiency
genetic hemochromatosis
see
hemochromatosis
genital renal ear syndrome (GRES)
see
Mayer-Rokitansky-Küster-Hauser syndrome
genitopatellar syndrome
GGM
see
glucose-galactose malabsorption
giant axonal neuropathy
giant cell chondrodysplasia
see
atelosteogenesis type 1
Giedion-Langer Syndrome
see
Langer-Giedion syndrome
Gilbert syndrome
Gilles de la Tourette Syndrome
see
Tourette syndrome
GIPP
see
familial male-limited precocious puberty
GIST
see
gastrointestinal stromal tumor
Gitelman syndrome
GLA deficiency
see
Fabry disease
Glaucoma
GLD
see
Krabbe disease
Glioma, retinal
see
retinoblastoma
Glomerulonephritis, Membranoproliferative
see
dense deposit disease
Glucocerebrosidase deficiency
see
Gaucher disease
Glucocerebrosidosis
see
Gaucher disease
glucose-6-phosphate dehydrogenase deficiency
glucose-galactose malabsorption
glucose transport defect, blood-brain barrier
see
GLUT1 deficiency syndrome
glucose transporter protein syndrome
see
GLUT1 deficiency syndrome
glucose transporter type 1 deficiency syndrome
see
GLUT1 deficiency syndrome
Glucosyl cerebroside lipidosis
see
Gaucher disease
Glucosylceramidase deficiency
see
Gaucher disease
Glucosylceramide beta-glucosidase deficiency
see
Gaucher disease
Glucosylceramide lipidosis
see
Gaucher disease
GLUT1 deficiency syndrome
glutamate formiminotransferase deficiency
glutaric acidemia type I
glutaric acidemia type II
Glutaryl-CoA dehydrogenase deficiency
see
glutaric acidemia type I
glutathione synthetase deficiency
gluten enteropathy
see
celiac disease
glyceric aciduria
see
primary hyperoxaluria
glycine encephalopathy
glycine N-methyltransferase deficiency
see
hypermethioninemia
Glycogen Storage Disease
glycogen storage disease type 2B
see
Danon disease
glycogen storage disease type I
glycogen storage disease type II
see
Pompe disease
glycogen storage disease type IIb
see
Danon disease
glycogen storage disease type III
glycogen storage disease type IX
glycogen storage disease type V
glycogen storage disease type VI
glycogen storage disease X
see
phosphoglycerate mutase deficiency
glycogenosis Type II
see
Pompe disease
glycolic aciduria
see
primary hyperoxaluria
glycosylasparaginase deficiency
see
aspartylglucosaminuria
GM1 gangliosidosis
GM2 Activator Deficiency Disease
see
GM2-gangliosidosis, AB variant
GM2-gangliosidosis, AB variant
GM2 gangliosidosis, type 1
see
Tay-Sachs disease
GM2 gangliosidosis, type 2
see
Sandhoff disease
GM2 Gangliosidosis, Type II
see
Sandhoff disease
GNMT deficiency
see
hypermethioninemia
Goiter-deafness syndrome
see
Pendred syndrome
Golabi-Ito-Hall syndrome
see
Renpenning syndrome
Goldberg syndrome
see
galactosialidosis
Goldenhar-Gorlin syndrome
see
craniofacial microsomia
Goldenhar syndrome
see
craniofacial microsomia
Goltz-Gorlin syndrome
see
focal dermal hypoplasia
Goltz Syndrome
see
focal dermal hypoplasia
Gonadal Dysgenesis, 46,XY
see
Swyer syndrome
GONADAL DYSGENESIS, XY FEMALE TYPE
see
Swyer syndrome
gonadotrophin-independent precocious puberty
see
familial male-limited precocious puberty
Gordon hyperkalemia-hypertension syndrome
see
pseudohypoaldosteronism type 2
Gorlin syndrome
Gout
gout, PRPS-related
see
phosphoribosylpyrophosphate synthetase superactivity
GPS
see
genitopatellar syndrome
Graefe-Usher syndrome
see
Usher syndrome
granulomatous disease, chronic
see
chronic granulomatous disease
granulomatous inflammatory arthritis, dermatitis, and uveitis, familial
see
Blau syndrome
Greenberg dysplasia
Greenfield Disease
see
metachromatic leukodystrophy
Greig cephalopolysyndactyly syndrome
GRN-related frontotemporal dementia
Groenblad-Strandberg syndrome
see
pseudoxanthoma elasticum
Gronblad-Strandberg syndrome
see
pseudoxanthoma elasticum
Growth Disorders
growth hormone deficiency dwarfism
see
isolated growth hormone deficiency
GS
see
Gitelman syndrome
GSD I
see
glycogen storage disease type I
GSD II
see
Pompe disease
GSD III
see
glycogen storage disease type III
GSD IX
see
glycogen storage disease type IX
GSD type I
see
glycogen storage disease type I
GSD type V
see
glycogen storage disease type V
GSD type VI
see
glycogen storage disease type VI
GSD V
see
glycogen storage disease type V
GSD VI
see
glycogen storage disease type VI
GSD X
see
phosphoglycerate mutase deficiency
GSD2
see
Pompe disease
GSD3
see
glycogen storage disease type III
GSD6
see
glycogen storage disease type VI
GSD10
see
phosphoglycerate mutase deficiency
GSDIX
see
glycogen storage disease type IX
GSDX
see
phosphoglycerate mutase deficiency
GTPS
see
GLUT1 deficiency syndrome
GTS
see
Tourette syndrome
guanidinoacetate methyltransferase deficiency
Guillain-Barré syndrome
Gum Disease
GUSB deficiency
see
mucopolysaccharidosis type VII
Gyrate Atrophy
see
gyrate atrophy of the choroid and retina
gyrate atrophy of the choroid and retina
Published: February 11, 2013