Genetic diseases-G

• G1D see GLUT1 deficiency syndrome
• 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
• GABA transaminase deficiency see GABA-transaminase deficiency
• GABA transferase deficiency see GABA-transaminase deficiency
• GABA-T deficiency see GABA-transaminase deficiency
• GABA-transaminase deficiency
• GACI see Generalized arterial calcification of infancy
• galactokinase deficiency disease see Galactosemia
• galactose epimerase deficiency see Galactosemia
• galactose-1-phosphate uridyl-transferase deficiency disease 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
• GALE deficiency see Galactosemia
• GALK deficiency see Galactosemia
• GALT deficiency see Galactosemia
• gamma aminobutyrate transaminase deficiency see GABA-transaminase deficiency
• gamma aminobutyric acid transaminase deficiency see GABA-transaminase deficiency
• gamma-aminobutyrate transaminase deficiency see GABA-transaminase deficiency
• gamma-aminobutyric acid transaminase deficiency see GABA-transaminase deficiency
• 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
• Gamstorp-Wohlfart syndrome see Autosomal recessive axonal neuropathy with neuromyotonia
• GAMT deficiency see Guanidinoacetate methyltransferase deficiency
• GAN see Giant axonal neuropathy
• ganglioside GM3 synthase deficiency see GM3 synthase deficiency
• ganglioside sialidase deficiency see Mucolipidosis type IV
• Garland-Moorhouse syndrome see Marinesco-Sjögren syndrome
• gastrointestinal stromal neoplasm see Gastrointestinal stromal tumor
• gastrointestinal stromal sarcoma see Gastrointestinal stromal tumor
• Gastrointestinal stromal tumor
• gastroschisis see Abdominal wall defect
• GATA-1-related thrombocytopenia with dyserythropoiesis see Dyserythropoietic anemia and thrombocytopenia
• 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 splenomegaly see Gaucher disease
• Gaucher syndrome see Gaucher disease
• Gaucher's disease see Gaucher disease
• Gauchers 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
• GCM syndrome see Gorlin-Chaudhry-Moss syndrome
• GCMS see Gorlin-Chaudhry-Moss syndrome
• GCPS see Greig cephalopolysyndactyly syndrome
• GD see Gaucher disease
• GDD see Gnathodiaphyseal dysplasia
• GDM see Gestational diabetes
• GEFS+ see Genetic epilepsy with febrile seizures plus
• geleophysic dwarfism see Geleophysic dysplasia
• 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 arterial calcification of infancy
• generalized epilepsy with febrile seizures plus see Genetic epilepsy with febrile seizures plus
• generalized lipodystrophy see Congenital generalized lipodystrophy
• generalized lymphatic dysplasia see Hennekam syndrome
• Generalized pustular psoriasis
• generalized pustular psoriasis of von Zumbusch see Generalized pustular psoriasis
• genetic emphysema see Alpha-1 antitrypsin deficiency
• Genetic epilepsy with febrile seizures plus
• genetic hemochromatosis see Hereditary hemochromatosis
• genital renal ear syndrome (GRES) see Mayer-Rokitansky-Küster-Hauser syndrome
• Genitopatellar syndrome
• Gestational diabetes
• gestational diabetes mellitus see Gestational diabetes
• gestational proteinuric hypertension see Preeclampsia
• GFND see Fibronectin glomerulopathy
• GGM see Glucose-galactose malabsorption
• GH-R deficiency see Laron syndrome
• GHDD see Ghosal hematodiaphyseal dysplasia
• Ghosal hemato-diaphyseal dysplasia see Ghosal hematodiaphyseal dysplasia
• Ghosal hematodiaphyseal dysplasia
• Ghosal syndrome see Ghosal hematodiaphyseal dysplasia
• Ghosal-type hemato-diaphyseal dysplasia see Ghosal hematodiaphyseal dysplasia
• giant axonal disease see Giant axonal neuropathy
• Giant axonal neuropathy
• giant cell chondrodysplasia see Atelosteogenesis type 1
• giant congenital melanocytic nevi see Giant congenital melanocytic nevus
• Giant congenital melanocytic nevus
• giant congenital pigmented nevus see Giant congenital melanocytic nevus
• giant parietal foramina see Enlarged parietal foramina
• giant pigmented hairy nevus see Giant congenital melanocytic nevus
• giant platelet syndrome see Bernard-Soulier syndrome
• Giedion-Langer syndrome see Trichorhinophalangeal syndrome type II
• Gifford-Bosma syndrome see Bosma arhinia microphthalmia syndrome
• Gilbert disease see Gilbert syndrome
• Gilbert syndrome
• Gilbert's disease see Gilbert syndrome
• Gilbert's syndrome see Gilbert syndrome
• Gilbert-Lereboullet syndrome see Gilbert syndrome
• Gilles de la Tourette Syndrome see Tourette syndrome
• Gilles de la Tourette's syndrome see Tourette syndrome
• Gillespie syndrome
• GIPP see Familial male-limited precocious puberty
• GIST see Gastrointestinal stromal tumor
• Gitelman syndrome
• Gitelman's syndrome see Gitelman syndrome
• GLA deficiency see Fabry disease
• Glanzmann disease see Glanzmann thrombasthenia
• Glanzmann thrombasthenia
• Glanzmann-Naegeli disorder see Glanzmann thrombasthenia
• Glass syndrome see SATB2-associated syndrome
• GLD see Krabbe disease
• Glioma, retinal see Retinoblastoma
• Globozoospermia
• glomerulopathy with fibronectin deposits see Fibronectin glomerulopathy
• glomerulopathy with giant fibrillar deposits see Fibronectin glomerulopathy
• glossoptosis, micrognathia, and cleft palate see Isolated Pierre Robin sequence
• glucocerebrosidase deficiency see Gaucher disease
• glucocerebrosidosis see Gaucher disease
• glucocorticoid deficiency see Familial glucocorticoid deficiency
• glucose 6 phosphate dehydrogenase deficiency see Glucose-6-phosphate dehydrogenase deficiency
• Glucose phosphate isomerase deficiency
• 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
• glucose-6-phosphate deficiency see Glycogen storage disease type I
• Glucose-6-phosphate dehydrogenase deficiency
• glucose-6-phosphate isomerase deficiency see Glucose phosphate isomerase deficiency
• glucose-6-phosphate transport defect see Glycogen storage disease type I
• Glucose-galactose malabsorption
• glucosephosphate isomerase deficiency see Glucose phosphate isomerase deficiency
• glucosyl cerebroside lipidosis see Gaucher disease
• glucosylceramidase deficiency see Gaucher disease
• glucosylceramide beta-glucosidase deficiency see Gaucher disease
• glucosylceramide lipidosis see Gaucher disease
• glucosyltransferase 1 deficiency see ALG6-congenital disorder of glycosylation
• Glut1 deficiency see GLUT1 deficiency syndrome
• GLUT1 deficiency syndrome
• GLUT1 DS see GLUT1 deficiency syndrome
• Glutamate formiminotransferase deficiency
• Glutaric acidemia I see Glutaric acidemia type I
• Glutaric acidemia type 1 see Glutaric acidemia type I
• Glutaric acidemia type I
• Glutaric acidemia type II
• glutaric acidemia, type 2 see Glutaric acidemia type II
• Glutaric aciduria I see Glutaric acidemia type I
• glutaric aciduria, type 2 see 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 branching enzyme deficiency see Glycogen storage disease type IV
• glycogen debrancher deficiency see Glycogen storage disease type III
• glycogen storage disease 0 see Glycogen storage disease type 0
• glycogen storage disease IV see Glycogen storage disease type IV
• Glycogen storage disease type 0
• glycogen storage disease type 2B see Danon disease
• glycogen storage disease type 4 see Glycogen storage disease type IV
• glycogen storage disease type 5 see Glycogen storage disease type V
• 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 IV
• Glycogen storage disease type IX
• Glycogen storage disease type V
• Glycogen storage disease type VI
• Glycogen storage disease type VII
• glycogen storage disease X see Phosphoglycerate mutase deficiency
• glycogen synthase deficiency see Glycogen storage disease type 0
• glycogen synthetase deficiency see Glycogen storage disease type 0
• glycogenosis 4 see Glycogen storage disease type IV
• glycogenosis 5 see Glycogen storage disease type V
• glycogenosis 7 see Glycogen storage disease type VII
• glycogenosis Type II see Pompe disease
• glycogenosis, type IV see Glycogen storage disease type IV
• glycolic aciduria see Primary hyperoxaluria
• glycoprotein Ib, platelet, deficiency of see Bernard-Soulier syndrome
• glycoprotein IIb/IIIa defect see Glanzmann thrombasthenia
• Glycoprotein VI deficiency
• glycosylasparaginase deficiency see Aspartylglucosaminuria
• GM1 gangliosidosis
• GM2 Activator Deficiency Disease see GM2-gangliosidosis, AB variant
• GM2 gangliosidosis, type 1 see Tay-Sachs disease
• GM2 gangliosidosis, type 2 see Sandhoff disease
• GM2 gangliosidosis, type AB see GM2-gangliosidosis, AB variant
• GM2 Gangliosidosis, Type II see Sandhoff disease
• GM2-gangliosidosis, AB variant
• GM3 synthase deficiency
• GMN see Giant congenital melanocytic nevus
• Gnathodiaphyseal dysplasia
• gnathodiaphyseal sclerosis see Gnathodiaphyseal dysplasia
• GNMT deficiency see Hypermethioninemia
• goiter-deafness syndrome see Pendred syndrome
• Golabi-Ito-Hall syndrome see Renpenning syndrome
• Goldberg syndrome see Galactosialidosis
• Goldenhar syndrome see Craniofacial microsomia
• Goldenhar-Gorlin syndrome see Craniofacial microsomia
• Goltz syndrome see Focal dermal hypoplasia
• Goltz-Gorlin syndrome see Focal dermal hypoplasia
• gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance see Perrault syndrome
• gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance see Perrault syndrome
• gonadal dysgenesis, 46,XY see Swyer syndrome
• gonadal dysgenesis, XX type, with deafness see Perrault syndrome
• gonadal dysgenesis, XY female type see Swyer syndrome
• gonadotrophin-independent precocious puberty see Familial male-limited precocious puberty
• gonadotropin-dependent precocious puberty see Central precocious puberty
• Gordon Holmes syndrome
• Gordon hyperkalemia-hypertension syndrome see Pseudohypoaldosteronism type 2
• Gordon's syndrome see Pseudohypoaldosteronism type 2
• Gorlin Chaudhry Moss syndrome see Gorlin-Chaudhry-Moss syndrome
• Gorlin syndrome
• Gorlin-Chaudhry-Moss syndrome
• Gorlin-Goltz syndrome see Gorlin syndrome
• Gougerot-Houwer-Sjogren syndrome see Sjögren syndrome
• Gougerot-Sjogren syndrome see Sjögren syndrome
• Gout
• gout, PRPS-related see Phosphoribosylpyrophosphate synthetase superactivity
• gouty arthritis see Gout
• gouty arthropathy see Gout
• GP VI deficiency see Glycoprotein VI deficiency
• GPA see Granulomatosis with polyangiitis
• GPHN see Giant congenital melanocytic nevus
• GPI deficiency see Glucose phosphate isomerase deficiency
• GPP see Generalized pustular psoriasis
• GPS see Gray platelet syndrome
• GPS see Genitopatellar syndrome
• GRACILE syndrome
• Graefe-Usher syndrome see Usher syndrome
• Grange occlusive arterial syndrome see Grange syndrome
• Grange syndrome
• granuloma fungoides see Mycosis fungoides
• Granulomatosis with polyangiitis
• granulomatous disease, chronic see Chronic granulomatous disease
• granulomatous inflammatory arthritis, dermatitis, and uveitis, familial see Blau syndrome
• granulomatous rosacea see Rosacea
• Graves disease
• Graves' disease see Graves disease
• Gray platelet syndrome
• Greenberg dysplasia
• Greenberg skeletal dysplasia see Greenberg dysplasia
• Greenfield disease see Metachromatic leukodystrophy
• Greig cephalopolysyndactyly syndrome
• grey platelet syndrome see Gray platelet syndrome
• GRIN2B encephalopathy see GRIN2B-related neurodevelopmental disorder
• GRIN2B related syndrome see GRIN2B-related neurodevelopmental disorder
• GRIN2B-related neurodevelopmental disorder
• Griscelli syndrome
• GRN-related frontotemporal dementia
• GRNG see Grange syndrome
• Groenblad-Strandberg syndrome see Pseudoxanthoma elasticum
• Gronblad-Strandberg syndrome see Pseudoxanthoma elasticum
• growth hormone deficiency dwarfism see Isolated growth hormone deficiency
• growth hormone insensitivity syndrome see Laron syndrome
• growth hormone receptor defect see Laron syndrome
• growth hormone receptor deficiency see Laron syndrome
• growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death see GRACILE syndrome
• growth retardation-Rieger anomaly see Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
• GS see Gitelman syndrome
• GS see Griscelli syndrome
• GSD 0 see Glycogen storage disease type 0
• GSD I see Glycogen storage disease type I
• GSD II see Pompe disease
• GSD III see Glycogen storage disease type III
• GSD IV see Glycogen storage disease type IV
• GSD IX see Glycogen storage disease type IX
• GSD type 0 see Glycogen storage disease type 0
• GSD type I see Glycogen storage disease type I
• GSD type IV see Glycogen storage disease type IV
• 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 VII see Glycogen storage disease type VII
• GSD X see Phosphoglycerate mutase deficiency
• GSD10 see Phosphoglycerate mutase deficiency
• GSD2 see Pompe disease
• GSD3 see Glycogen storage disease type III
• GSD4 see Glycogen storage disease type IV
• GSD6 see Glycogen storage disease type VI
• GSD7 see Glycogen storage disease type VII
• 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-Barre syndrome see Guillain-Barré syndrome
• Guillain-Barré syndrome
• GUSB deficiency see Mucopolysaccharidosis type VII
• guttate hypopigmentation and punctate palmoplantar keratoderma with or without ectopic calcification see Cole disease
• gyrate atrophy see Gyrate atrophy of the choroid and retina
• Gyrate atrophy of the choroid and retina