Genetic diseases-G
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- 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
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