Health Conditions - Genetics Home Reference - g | G

Health Conditions - Genetics Home Reference

Health Conditions

Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

• 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
• 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-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
• GCPS, see Greig cephalopolysyndactyly syndrome
• GD, see Gaucher disease
• GDD, see gnathodiaphyseal dysplasia
• 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 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 syndrome
• Gorlin-Goltz syndrome, see Gorlin syndrome
• Gougerot-Houwer-Sjogren syndrome, see Sjögren syndrome
• Gougerot-Sjogren syndrome, see Sjögren syndrome
• gout, PRPS-related, see phosphoribosylpyrophosphate synthetase superactivity
• 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
• 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
• 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 Griscelli syndrome
• GS, see Gitelman 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