- 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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