Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program G/2

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program





G/2



Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• Gitelman syndrome
• Gitelman's syndrome - See Gitelman syndrome
• Giuffré-Tsukahara syndrome - See Radioulnar synostosis-microcephaly-scoliosis syndrome
• GJB2-related deafness - See DFNB1
• GK deficiency - See Hyperglycerolemia
• GK1 deficiency - See Hyperglycerolemia
• GKD - See Hyperglycerolemia
• GLA deficiency - See Fabry disease
• Glanders
• Glanzmann thrombasthenia
• Glanzmann thrombasthenia type A - See Glanzmann thrombasthenia
• Glass syndrome - See SATB2-associated syndrome
• Glass-Chapman-Hockley syndrome
• Glassy cell adenocarcinoma of the uterine cervix - See Glassy cell carcinoma of the cervix
• Glassy cell carcinoma of the cervix
• Glastre Cochat Bouvier syndrome - See Nephrotic syndrome ocular anomalies
• Glaucoma 1, open angle, A - See Primary open angle glaucoma juvenile onset 1
• Glaucoma 3 primary infantile B
• Glaucoma hereditary, juvenile - See Primary open angle glaucoma juvenile onset 1
• Glaucoma iridogoniodysgenesia
• Glaucoma primary congenita type 3B - See Glaucoma 3 primary infantile B
• Glaucoma sleep apnea
• Glaucoma type 1C
• Glaucoma, congenital
• Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome
• Glaucoma, hereditary
• Glaucoma, hereditary adult type 1A
• Glaucoma, hereditary juvenile type 1B
• Glaucoma, primary infantile type 3A
• Glaucomatocyclitic crisis - See Posner-Schlossman syndrome
• GLB 1 deficiency - See GM1 gangliosidosis
• GLB deficiency type 1 - See GM1 gangliosidosis type 1
• GLC1A - See Primary open angle glaucoma juvenile onset 1
• GLC3 type B - See Glaucoma 3 primary infantile B
• GLC3B - See Glaucoma 3 primary infantile B
• GLD - See Krabbe disease
• Gleich syndrome - See Episodic angioedema with eosinophilia
• Glioblastoma
• Glioblastoma multiforme - See Glioblastoma
• Glioma
• Glioma-polyposis syndrome - See Turcot syndrome
• Gliomatosis cerebri
• Gliomatosis peritonei
• Gliosarcoma
• Global disaccharide intolerance
• Globoid cell leukodystrophy - See Krabbe disease
• Globoid cell leukoencephalopathy - See Krabbe disease
• Globozoospermia
• GLOBOZOOSPERMIA, COMPLETE - See Globozoospermia
• GLOBOZOOSPERMIA, TOTAL - See Globozoospermia
• Glomerular basement membrane disease, nail-patella syndrome type - See Salcedo syndrome
• Glomerular nephritis familial with fibronectin deposits - See Glomerulopathy with fibronectin deposits 2
• Glomerulocystic kidney disease, hypoplastic type - See Maturity-onset diabetes of the young
• Glomerulocystic kidney, familial hypoplastic - See Maturity-onset diabetes of the young
• Glomerulonephritis
• Glomerulonephritis - mesangial proliferative - See Mesangial proliferative glomerulonephritis
• Glomerulonephritis - pulmonary hemorrhage - See Goodpasture syndrome
• Glomerulonephritis membranoproliferative type 2 - See Dense deposit disease
• Glomerulonephritis with sparse hair and telangiectases
• Glomerulonephritis, IGA - See IgA nephropathy
• Glomerulonephritis, membranous - See Membranous nephropathy
• Glomerulopathy with fibronectin deposits 1
• Glomerulopathy with fibronectin deposits 2
• Glomerulopathy with giant fibrillar deposits - See Glomerulopathy with fibronectin deposits 1
• Glomerulosclerosis, focal - See Focal segmental glomerulosclerosis
• Glomus jugulare tumors
• Glomus tumor - See Glomus jugulare tumors
• Glomus tumors familial 1 - See Paragangliomas 1
• Glomus tumors, familial, 2 - See Paragangliomas 2
• Glomus tumors, familial, 3 - See Paragangliomas 3
• Glomus tympanicum paraganglioma - See Glomus tympanicum tumor
• Glomus tympanicum tumor
• Glomus vagale tumor
• Gloomy face syndrome - See 3M syndrome
• Glossodynia
• Glossopalatine ankylosis cataracts digital anomalies - See Johnson Hall Krous syndrome
• Glossopalatine ankylosis micrognathia ear anomalies
• Glossopharyngeal neuralgia
• Glossoptosis, micrognathia, and cleft palate - See Pierre Robin sequence
• Glucagonoma
• Glucagonoma syndrome
• Glucocerebrosidase deficiency - See Gaucher disease type 1
• Glucocerebrosidosis - See Gaucher disease
• Glucocorticoid resistance
• Glucocorticoid sensitive hypertension - See Glucocorticoid-remediable aldosteronism
• Glucocorticoid-remediable aldosteronism
• Glucosamine N-acetyl-6-sulfatase deficiency - See Mucopolysaccharidosis type IIID
• Glucose galactose malabsorption deficiency - See Glucose-galactose malabsorption
• Glucose transport defect, blood-brain barrier - See Glucose transporter type 1 deficiency syndrome
• Glucose transporter protein syndrome - See Glucose transporter type 1 deficiency syndrome
• Glucose transporter type 1 deficiency syndrome
• Glucose-6-phosphatase deficiency - See Glycogen storage disease type 1A
• Glucose-6-phosphatase deficiency glycogen storage disease - See Glycogen storage disease type 1A
• Glucose-6-phosphate dehydrogenase deficiency
• Glucose-6-phosphate translocase deficiency
• Glucose-6-phosphate transport defect - See Glycogen storage disease type 1B
• Glucose-galactose malabsorption
• Glucosephosphate isomerase deficiency
• Glucosidase 1 deficiency - See MOGS-CDG (CDG-IIb)
• Glucosidase acid-1,4-alpha deficiency
• Glucosyl cerebroside lipidosis - See Gaucher disease
• Glucosylceramidase deficiency - See Gaucher disease
• Glucosyltransferase 1 deficiency - See ALG6-CDG (CDG-Ic)
• Glucosyltransferase 2 deficiency - See ALG8-CDG (CDG-Ih)
• GLUT1 deficiency syndrome - See Glucose transporter type 1 deficiency syndrome
• GLUT-1 deficiency syndrome - See Glucose transporter type 1 deficiency syndrome
• GLUT1 DS - See Glucose transporter type 1 deficiency syndrome
• GLUT2 deficiency - See Fanconi Bickel syndrome
• Glutamate decarboxylase deficiency
• Glutamate formiminotransferase deficiency
• Glutamate-aspartate transport defect - See Dicarboxylic aminoaciduria
• Glutamine deficiency, congenital
• Glutamine synthetase deficiency, congenital systemic - See Glutamine deficiency, congenital
• Glutaric acidemia 1 - See Glutaric acidemia type I
• Glutaric acidemia 2 - See Glutaric acidemia type II
• Glutaric acidemia type 1 - See Glutaric acidemia type I
• Glutaric acidemia type 2 - See Glutaric acidemia type II
• Glutaric acidemia type 3 - See Glutaric acidemia type III
• Glutaric acidemia type I
• Glutaric acidemia type II
• Glutaric acidemia type III
• Glutaric aciduria 1 - See Glutaric acidemia type I
• Glutaric aciduria 2 - See Glutaric acidemia type II
• Glutaric aciduria type 3 - See Glutaric acidemia type III
• Glutaric aciduria type III - See Glutaric acidemia type III
• Glutaryl-CoA dehydrogenase deficiency - See Glutaric acidemia type I
• Glutaryl-CoA oxidase deficiency - See Glutaric acidemia type III
• Glutathione synthetase deficiency
• Glutathionuria
• Gluteal muscle, absence of - See Absence of gluteal muscle
• Gluten intolerance - See Celiac disease - not a rare disease
• Gluten-induced enteropathy - See Celiac disease - not a rare disease
• Gluten-sensitive enteropathy - See Celiac disease - not a rare disease
• Glyceraldehyde-3-phosphate dehydrogenase deficiency
• Glyceric aciduria - See Primary hyperoxaluria type 2
• Glycerol kinase deficiency - See Hyperglycerolemia
• Glycine encephalopathy
• Glycine N-methyltransferase deficiency
• Glycine synthase deficiency - See Glycine encephalopathy
• Glycinemia, ketotic - See Propionic acidemia
• Glycogen branching enzyme deficiency - See Glycogen storage disease type 4
• Glycogen debrancher deficiency - See Glycogen storage disease type 3
• Glycogen storage cardiomyopathy - See Danon disease
• Glycogen storage disease 12 - See Glycogen storage disease type 12
• Glycogen storage disease 13 - See Glycogen storage disease type 13
• Glycogen storage disease 1A - See Glycogen storage disease type 1A
• Glycogen storage disease 6 - See Glycogen storage disease type 6
• Glycogen storage disease 8
• Glycogen storage disease due to GLUT2 deficiency - See Fanconi Bickel syndrome
• Glycogen storage disease due to phosphoglucomutase deficiency - See PGM1-CDG
• Glycogen storage disease limited to the heart - See Danon disease
• Glycogen storage disease type 0, liver
• Glycogen storage disease type 0, muscle
• Glycogen storage disease type 12
• Glycogen storage disease type 13
• Glycogen storage disease type 1A
• Glycogen storage disease type 1B
• Glycogen storage disease type 2
• Glycogen storage disease type 2b (formerly) - See Danon disease
• Glycogen storage disease type 3
• Glycogen storage disease type 4
• Glycogen storage disease type 5
• Glycogen storage disease type 6
• Glycogen storage disease type 7
• Glycogen storage disease VIII - See Glycogen storage disease 8
• Glycogen storage disease X - See Phosphoglycerate mutase deficiency
• Glycogen storage disease XI - See Fanconi Bickel syndrome
• Glycogen Storage Disease XI - See Lactate dehydrogenase A deficiency
• Glycogenosis 4 - See Glycogen storage disease type 4
• Glycogenosis Fanconi type - See Fanconi Bickel syndrome
• Glycogenosis type 1 - See Glycogen storage disease type 1A
• Glycogenosis type 8 - See Glycogen storage disease 8
• Glycogen-rich adenocarcinoma - See Epithelial-myoepithelial carcinoma
• Glycogen-rich adenoma - See Epithelial-myoepithelial carcinoma
• Glycolic aciduria - See Primary hyperoxaluria type 1
• Glycoprotein neuraminidase deficiency - See Sialidosis, type II
• Glycoprotein VI deficiency
• Glycoproteinosis
• Glycosylasparaginase deficiency - See Aspartylglycosaminuria
• Glycosylphosphatidylinositol deficiency - See Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• Glyoxylate reductase/hydroxypyruvate reductase deficiency - See Primary hyperoxaluria type 2
• GM1 gangliosidosis
• GM1 gangliosidosis type 1
• GM1 gangliosidosis type 2
• GM1 gangliosidosis type 3
• GM2 gangliosidosis, 0 variant
• GM2 gangliosidosis, type 1 - See Tay-Sachs disease
• GM2 gangliosidosis, type 2 - See Sandhoff disease
• GM2-gangliosidosis, B, B1, AB variant
• GM3 synthase deficiency
• GMPPA-CDG
• GMS syndrome
• GNAO1 encephalopathy
• Gnathodiaphyseal dysplasia - See Osteogenesis imperfecta Levin type
• Gnathostoma Infection
• Gnathostomiasis - See Gnathostoma Infection
• GNB4-related intermediate Charcot-Marie-Tooth neuropathy - See Autosomal dominant intermediate Charcot-Marie-Tooth
• GNE myopathy - See Inclusion body myopathy 2
• GNMT deficiency - See Glycine N-methyltransferase deficiency
• GNPTA - See I cell disease
• GNS deficiency - See Mucopolysaccharidosis type IIID
• GO - See Geroderma osteodysplastica
• Goblet cell adenocarcinoid - See Goblet cell carcinoid
• Goblet cell carcinoid
• Goblet cell carcinoma - See Goblet cell carcinoid
• Goblet cell tumor - See Goblet cell carcinoid
• Goeminne syndrome - See Torticollis keloids cryptorchidism renal dysplasia
• Goiter-deafness syndrome - See Pendred syndrome
• Golabi-Rosen syndrome - See Simpson-Golabi-Behmel syndrome
• Goldberg syndrome - See Galactosialidosis
• Goldberg-Shprintzen megacolon syndrome
• Goldberg-Shprintzen syndrome - See Goldberg-Shprintzen megacolon syndrome
• Goldblatt chondrodysplasia - See Spondylometaphyseal dysplasia with dentinogenesis imperfecta
• Goldblatt syndrome - See Spondylometaphyseal dysplasia with dentinogenesis imperfecta
• Goldblatt Wallis syndrome - See Hypospadias-intellectual disability, Goldblatt type syndrome
• Goldblatt-Viljoen syndrome - See Radial ray hypoplasia choanal atresia
• Goldenhar disease
• Goldenhar syndrome - See Goldenhar disease
• Goldenhar syndrome with ipsilateral radial defect - See Microsomia hemifacial radial defects
• Goldmann-Favre syndrome
• Goldston syndrome - See Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia
• Gollop Coates syndrome
• Gollop-Wolfgang complex - See Femur bifid with monodactylous ectrodactyly
• Goltz Gorlin Syndrome - See Focal dermal hypoplasia
• Goltz Syndrome - See Focal dermal hypoplasia
• Goltz-Gorlin syndrome - See Focal dermal hypoplasia
• GOMBO syndrome
• Gomez Lopez Hernandez syndrome
• Gomez-Lopez-Hernández syndrome - See Gomez Lopez Hernandez syndrome
• Gomm Button disease - See Acute febrile neutrophilic dermatosis
• Gonadal dysgenesis
• Gonadal Dysgenesis (45,X) - See Turner syndrome
• Gonadal dysgenesis mixed
• Gonadal dysgenesis Turner type
• Gonadal dysgenesis XY type associated anomalies
• Gonadal dysgenesis, XX type - See Perrault syndrome
• Gonadal dysgenesis, XX type, with deafness - See Perrault syndrome
• Gonadal dysgenesis, XY female type - See Swyer syndrome
• Gonadal polyembryoma - See Polyembryoma
• Gonadotropin deficiency familial idiopathic - See Eunuchoidism familial hypogonadotropic
• Goniodysgenesis hypodontia - See Axenfeld-Rieger syndrome
• Goniodysgenesis-intellectual disability-short stature syndrome - See GMS syndrome
• Gonococcal conjunctivitis
• Gonococcal perihepatitis - See Fitz-Hugh-Curtis syndrome
• Gonzales-del Angel syndrome - See Delayed membranous cranial ossification
• Good syndrome - See Immunodeficiency with thymoma
• Goodpasture syndrome
• Gordon hyperkalemia-hypertension syndrome - See Pseudohypoaldosteronism type 2
• Gordon syndrome
• Gordon-Holmes syndrome - See Cerebellar ataxia and hypogonadotropic hypogonadism
• Gorham's disease
• Gorham-Stout disease - See Gorham's disease
• Gorham-Stout syndrome - See Gorham's disease
• Gorlin Bushkell Jensen syndrome
• Gorlin Chaudhry Moss syndrome
• Gorlin syndrome - See Nevoid basal cell carcinoma syndrome
• Gorlin-Chaudhry-Moss syndrome - See Gorlin Chaudhry Moss syndrome
• Gorlin-Goltz Syndrome - See Nevoid basal cell carcinoma syndrome
• GOSHS - See Goldberg-Shprintzen megacolon syndrome
• GOSR2-related progressive myoclonus ataxia
• Gottron syndrome - See Acrogeria, Gottron type
• GP VI deficiency - See Glycoprotein VI deficiency
• GPA - See Granulomatosis with polyangiitis
• GPAPP deficiency - See Chondrodysplasia with joint dislocations, GPAPP type
• GPC - See Giant papillary conjunctivitis
• GPHN - See Giant congenital nevus
• GPI deficiency - See Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• GPP - See Generalized pustular psoriasis
• GPS - See Gray platelet syndrome
• Gracile bone dysplasia
• GRACILE syndrome
• Grade III astrocytoma - See Anaplastic astrocytoma
• Graefe-Usher syndrome - See Usher syndrome
• Graham Boyle Troxell syndrome
• Graham Little syndrome - See Graham-Little-Piccardi-Lassueur syndrome
• Graham Little-Piccardi-Lassueur syndrome - See Graham-Little-Piccardi-Lassueur syndrome
• Graham-Cox syndrome
• Graham-Little-Piccardi-Lassueur syndrome
• Grand Kaine Fulling syndrome
• Grant syndrome
• Granular and lattice corneal dystrophies - See Corneal dystrophy Avellino type
• Granular cell tumor
• Granular corneal dystrophy type 2 - See Corneal dystrophy Avellino type
• Granular-lattice (Avellino) corneal dystrophy - See Corneal dystrophy Avellino type
• Granulocytic sarcoma - See Myeloid sarcoma
• Granulocytopenia
• Granuloma annulare
• Granuloma fungoides - See Mycosis fungoides
• Granuloma Inguinale
• Granulomas, congenital cerebral
• Granulomatosis with polyangiitis
• Granulomatosis, familial juvenile systemic - See Blau syndrome
• Granulomatosis, familial, Blau type - See Blau syndrome
• Granulomatous allergic angiitis - See Eosinophilic granulomatosis with polyangiitis
• Granulomatous Amebic Encephalitis
• Granulomatous angiitis of the central nervous system - See Primary angiitis of the central nervous system
• Granulomatous colitis - See Crohn's disease - not a rare disease
• Granulomatous disease, chronic - See Chronic granulomatous disease
• Granulomatous enteritis - See Crohn's disease - not a rare disease
• Granulomatous hypophysitis
• Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial - See Blau syndrome
• Granulomatous lobular mastitis
• Granulomatous rosacea
• Granulomatous slack skin - See Granulomatous slack skin disease
• Granulomatous slack skin disease
• Granulosa cell tumor of the ovary
• Granulosa theca cell tumor - See Granulosa cell tumor of the ovary
• Granulosa theca cell tumor of the ovary - See Granulosa cell tumor of the ovary
• Graphite Pneumoconiosis
• Gräsbeck-Imerslund disease - See Imerslund-Grasbeck syndrome
• Graves' disease
• Graves' hyperthyroidism - See Graves' disease
• Gravidic intrahepatic cholestasis - See Intrahepatic cholestasis of pregnancy
• Gray platelet syndrome
• Gray zone lymphoma
• Grebe chondrodysplasia - See Chondrodysplasia, Grebe type
• Grebe dysplasia - See Chondrodysplasia, Grebe type
• Grebe syndrome - See Chondrodysplasia, Grebe type
• Green Sandford Davison syndrome
• Greenberg dysplasia
• Greenberg skeletal dysplasia - See Greenberg dysplasia
• Greig cephalopolysyndactyly syndrome
• Greig syndrome - See Greig cephalopolysyndactyly syndrome
• Greither disease - See Keratoderma palmoplantaris transgrediens
• Greither's disease - See Keratoderma palmoplantaris transgrediens
• GRIN1-associated disorders
• GRIN2B encephalopathy - See GRIN2B related syndrome
• GRIN2B related syndrome
• GRIN2B-related intellectual disability - See GRIN2B related syndrome
• Griscelli disease - See Griscelli syndrome
• Griscelli syndrome
• Griscelli syndrome type 1
• Griscelli syndrome type 2
• Griscelli syndrome type 3
• Griscelli syndrome with hemophagocytic syndrome - See Griscelli syndrome type 2
• Griscelli syndrome with neurologic impairment - See Griscelli syndrome type 1
• Griscelli syndrome, cutaneous and neurologic type - See Griscelli syndrome type 1
• Griscelli-Pruniéras syndrome type 2 - See Griscelli syndrome type 2
• Grix Blankenship Peterson syndrome
• Groenouw type I corneal dystrophy
• Groenouw type II corneal dystrophy - See Macular dystrophy, corneal type 1
• Groll Hirschowitz syndrome
• Gronblad Strandberg syndrome - See Pseudoxanthoma elasticum
• Ground itch - See Cutaneous larva migrans
• Group A Streptococcal disease - See Streptococcal Group A invasive disease
• Group A Streptococcal infection - See Streptococcal Group A invasive disease
• Group B strep disease in newborns
• Grover disease - See Grover's disease - not a rare disease
• Grover's disease - not a rare disease
• Growth deficiency, facial anomalies, and brachydactyly - See Frias syndrome
• Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability - See Bloom syndrome
• Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate - See Mandibulofacial dysostosis with microcephaly
• Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome - SeeMandibulofacial dysostosis with microcephaly
• GROWTH FACTORS, COMBINED DEFECT OF - Another name for Lipodystrophy due to peptidic growth factors deficiency
• Growth hormone deficiency
• Growth hormone deficiency with hypogammaglobulinemia - See Isolated growth hormone deficiency type 3
• Growth hormone deficiency, isolated autosomal dominant - See Isolated growth hormone deficiency type 2
• Growth hormone deficiency, isolated autosomal recessive - See Isolated growth hormone deficiency type 1A
• Growth hormone excess - See Acromegaly
• Growth hormone insensitivity due to postreceptor defect - See Growth hormone insensitivity with immunodeficiency
• Growth hormone insensitivity syndrome - See Laron syndrome
• Growth hormone insensitivity with immunodeficiency
• Growth hormone receptor deficiency - See Laron syndrome
• Growth mental deficiency syndrome of Myhre - See Myhre syndrome
• Growth retardation alopecia pseudoanodontia optic
• Growth retardation hydrocephaly lung hypoplasia
• Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia - See Hoyeraal Hreidarsson syndrome
• Growth retardation with sensorineural deafness and mental retardation - See Insulin-like growth factor I deficiency
• Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy - See GAPO syndrome
• Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis and Early death - See GRACILE syndrome
• Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction - See Deafness, epiphyseal dysplasia, short stature
• Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia - See GOMBO syndrome
• Growth retardation, pulmonary hypertension, and aminoaciduria - See Rowley-Rosenberg syndrome
• Growth retardation, severe mental retardation, acral limb deficiencies with poorly keratinized nails - See Cartwright Nelson Fryns syndrome
• Growth retardation, small and puffy hands and feet, and eczema - See Grubben de Cock Borghgraef syndrome
• Growth retardation, truncal obesity, facial asymmetry, hypotonia, small phallus, malformed low-set ears and micrognathia - See Diploid-triploid mosaicism
• GRTH - See Generalized resistance to thyroid hormone
• Grubben de Cock Borghgraef syndrome
• Gruber syndrome - See Meckel syndrome
• GS - See Gerstmann syndrome
• GS1 - See Griscelli syndrome type 1
• GS2 - See Griscelli syndrome type 2
• GS3 - See Griscelli syndrome type 3
• GSD 4 - See Glycogen storage disease type 4
• GSD 5 - See Glycogen storage disease type 5
• GSD II - See Glycogen storage disease type 2
• GSD IV - See Glycogen storage disease type 4
• GSD type 14 - See PGM1-CDG
• GSD1 - See Glycogen storage disease type 1A
• GSD10 - See Phosphoglycerate mutase deficiency
• GSD12 - See Glycogen storage disease type 12
• GSD13 - See Glycogen storage disease type 13
• GSD1B - See Glycogen storage disease type 1B
• GSD2B (formerly) - See Danon disease
• GSD6 - See Glycogen storage disease type 6
• GSD7 - See Glycogen storage disease type 7
• GSDX - See Phosphoglycerate mutase deficiency
• GSDXIV - See PGM1-CDG
• GSL - See Galactosialidosis
• GSM 1 - See Hereditary geniospasm
• GSSD - See Gerstmann-Straussler-Scheinker disease
• GT - See Glanzmann thrombasthenia
• GTCT - See Granulosa cell tumor of the ovary
• GTG deficiency - See Glutathionuria
• GTN - See Gestational trophoblastic tumor
• GTP cyclohydrolase I deficiency
• GTPTS - See Genitopatellar syndrome
• Guadalajara camptodactyly syndrome type II - See Camptodactyly syndrome Guadalajara type 2
• Guam disease - See Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
• Guanidinoacetate methyltransferase deficiency
• Guerin-Stern syndrome - See Arthrogryposis multiplex congenita
• Guérin-Stern syndrome - See Arthrogryposis multiplex congenita
• Guibaud Vainsel syndrome - See Osteopetrosis autosomal recessive 3
• Guillain-Barre syndrome
• Guillain-Barré syndrome - See Guillain-Barre syndrome
• Guillain-Barré-Strohl syndrome - See Guillain-Barre syndrome
• Guinea worm disease - See Dracunculiasis
• Guinea worm infection - See Dracunculiasis
• Guizar Vasquez Sanchez Manzano syndrome
• Guízar Vázquez-Sánchez-Manzano syndrome - See Guizar Vasquez Sanchez Manzano syndrome
• Gunal Seber Basaran syndrome - See Osteopoikilosis and dacryocystitis
• Günther disease - See Congenital erythropoietic porphyria
• Gupta Patton syndrome
• Gurrieri syndrome
• Gurrieri-Sammito-Bellussi syndrome - See Gurrieri syndrome
• GUSB deficiency - See Mucopolysaccharidosis type VII
• Gusher syndrome - See Deafness, X-linked 2
• GUST - See Severe X-linked intellectual disability, Gustavson type
• Gustatory sweating - See Frey's syndrome
• Gustavson syndrome - See Severe X-linked intellectual disability, Gustavson type
• Guttate hypopigmentation - See Cole disease
• Guttate psoriasis
• Guttmacher syndrome - See Preaxial deficiency, postaxial polydactyly and hypospadias
• GWAFD - See Miller syndrome
• GWC - See Femur bifid with monodactylous ectrodactyly
• GWD - See Dracunculiasis
• Gynandroblastoma
• Gyrate atrophy - See Gyrate atrophy of choroid and retina
• Gyrate atrophy of choroid and retina