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

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

• G syndrome - See Opitz G/BBB syndrome
• G1D - See Glucose transporter type 1 deficiency syndrome
• G6P translocase deficiency - See Glucose-6-phosphate translocase deficiency
• G6PD deficiency - See Glucose-6-phosphate dehydrogenase deficiency
• GA 1 - See Glutaric acidemia type I
• GA 2 - See Glutaric acidemia type II
• GA III - See Glutaric acidemia type III
• GABA metabolic defect - See Succinic semialdehyde dehydrogenase deficiency
• GABA transaminase deficiency - See Gamma aminobutyric acid transaminase deficiency
• GABAT - See Gamma aminobutyric acid transaminase deficiency
• GABEB - See Junctional epidermolysis bullosa
• Gabrielli syndrome - See Orofaciodigital syndrome 11
• Gaisboeck's syndrome - See Pseudopolycythaemia
• Gait ataxia with late onset polyneuropathy syndrome
• Gait disorder antibody late-age onset polyneuropathy - See Gait ataxia with late onset polyneuropathy syndrome
• Gait disorder, autoantibody to a neural antigen, late-age onset, and polyneuropathy - See Gait ataxia with late onset polyneuropathy syndrome
• Galactocele
• Galactocerebrosidase deficiency - See Krabbe disease
• Galactocoele - See Galactocele
• Galactokinase deficiency
• Galactokinase deficiency galactosemia - See Galactokinase deficiency
• Galactorrhea amenorrhea without pregnancy - See Ahumada Del Castillo syndrome
• Galactorrhea-Hyperprolactinemia - See Galactorrhoea-Hyperprolactinaemia
• Galactorrhoea-Hyperprolactinaemia
• Galactosamine-6-sulfatase deficiency - See Mucopolysaccharidosis type IVA
• Galactose epimerase deficiency
• Galactose-1-phosphate uridyl transferase deficiency - See Classic galactosemia
• Galactose-1-phosphate uridyltranferase deficiency - See Classic galactosemia
• Galactose-1-phosphate uridyltransferase deficiency - See Classic galactosemia
• Galactose-1-phosphate uridyl-transferase deficiency disease - See Classic galactosemia
• Galactosemia
• Galactosemia 2 - See Galactokinase deficiency
• Galactosemia 3 - See Galactose epimerase deficiency
• Galactosemia type 1 - See Classic galactosemia
• Galactosemia type 2 - See Galactokinase deficiency
• Galactosemia type 3 - See Galactose epimerase deficiency
• Galactosemia, classic - See Classic galactosemia
• Galactosialidosis
• Galactosylceramide beta-galactosidase deficiency - See Krabbe disease
• Galactosyltransferase 1 deficiency - See Spondylodysplastic Ehlers-Danlos syndrome
• GALC deficiency - See Krabbe disease
• GALE deficiency - See Galactose epimerase deficiency
• GALE-D - See Galactose epimerase deficiency
• Galen vein aneurysm - See Vein of Galen aneurysm
• Galenic arteriovenous malformation - See Vein of Galen aneurysm
• GALK deficiency - See Galactokinase deficiency
• GALK-D - See Galactokinase deficiency
• Gallbladder cancer
• Gallbladder, left-sided - See Left-sided gallbladder
• Galloway Mowat syndrome - See Galloway-Mowat syndrome
• Galloway syndrome - See Galloway-Mowat syndrome
• Galloway-Mowat syndrome
• Gallstone cholecystitis - See Cholecystitis
• GALNS deficiency - See Mucopolysaccharidosis type IVA
• GALOP syndrome - See Gait ataxia with late onset polyneuropathy syndrome
• GALT deficiency - See Classic galactosemia
• Gambian sleeping sickness - See Trypanosomiasis, Human West-African
• Game Friedman Paradice syndrome
• Game-Friedman-Paradice syndrome - See Growth retardation hydrocephaly lung hypoplasia
• Gamma aminobutyrate transaminase deficiency - See Gamma aminobutyric acid transaminase deficiency
• Gamma aminobutyric acid transaminase deficiency
• Gamma heavy chain deposition disease - See Gamma heavy chain disease
• Gamma heavy chain disease
• Gamma-A-globulin, selective deficiency of - See Selective IgA deficiency - not a rare disease
• Gamma-cystathionase deficiency
• Gammaglobulin Deficiency - See Primary agammaglobulinemia
• Gamma-glutamyltransferase deficiency - See Glutathionuria
• Gamma-glutamyltranspeptidase deficiency - See Glutathionuria
• Gamma-hydroxybutyricaciduria - See Succinic semialdehyde dehydrogenase deficiency
• Gamma-sarcoglycanopathy - See Limb-girdle muscular dystrophy, type 2C
• 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
• GAN1 - See Giant axonal neuropathy
• Gangliocytoma
• Ganglioglioma
• Ganglioside neuraminidase deficiency - See Mucolipidosis type 4
• Ganglioside sialidase deficiency - See Mucolipidosis type 4
• Gangliosidosis
• Gangliosidosis generalized GM1 chronic type - See GM1 gangliosidosis type 3
• Gangliosidosis generalized GM1 infantile form - See GM1 gangliosidosis type 1
• Gangliosidosis generalized GM1 juvenile type - See GM1 gangliosidosis type 2
• Gangliosidosis generalized GM1 type 1 - See GM1 gangliosidosis type 1
• Gangliosidosis generalized GM1 type 2 - See GM1 gangliosidosis type 2
• Gangliosidosis GM1 type 3 - See GM1 gangliosidosis type 3
• Gangliosidosis GM2 , type 1 - See Tay-Sachs disease
• GAPDH deficiency - See Glyceraldehyde-3-phosphate dehydrogenase deficiency
• GAPO syndrome
• Garcia-Lurie syndrome - See XK aprosencephaly
• Gardner syndrome
• Gardner-Diamond syndrome
• Gardner's syndrome - See Gardner syndrome
• Gardner-Silengo-Wachtel syndrome - See Genito palato cardiac syndrome
• Gareis-Mason syndrome - See Spastic paraplegia 1
• Garret Tripp syndrome
• GAS - See Streptococcal Group A invasive disease
• Gas bloat syndrome
• Gastric antral vascular ectasia - See Watermelon stomach
• Gastric cancer - See Stomach cancer
• Gastric cancer, familial diffuse - See Hereditary diffuse gastric cancer
• Gastric cancer, hereditary diffuse - See Hereditary diffuse gastric cancer
• Gastric duplication cysts
• Gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma - See Carney triad
• Gastric lymphoma
• Gastric Non-Hodgkin Lymphoma
• Gastrinoma - See Zollinger-Ellison syndrome
• Gastrocutaneous syndrome
• Gastro-enteropancreatic neuroendocrine tumor
• Gastroenteropathy, protein losing - See Menetrier disease
• Gastroesophageal laceration-hemorrhage - See Mallory-Weiss syndrome
• Gastrointestinal autonomic nerve tumor - See Plexosarcoma
• Gastrointestinal Stromal Sarcoma - See Gastrointestinal Stromal Tumors
• Gastrointestinal Stromal Tumors
• Gastroparesis
• Gastroschisis
• GATA2 deficiency
• GATAD2B-associated neurodevelopmental disorder
• GATM deficiency - See L-arginine:glycine amidinotransferase deficiency
• Gaucher disease
• Gaucher disease - ophthalmoplegia - cardiovascular calcification - See Gaucher disease
• Gaucher disease collodion type - See Gaucher disease perinatal lethal
• Gaucher disease perinatal lethal
• Gaucher disease type 1
• Gaucher disease type 2
• Gaucher disease type 3
• Gaucher disease type 3C - See Gaucher disease
• Gaucher disease, acute neuronopathic type - See Gaucher disease type 2
• Gaucher disease, atypical - See Gaucher disease
• Gaucher disease, chronic neuronopathic type - See Gaucher disease type 3
• Gaucher disease, infantile cerebral - See Gaucher disease type 2
• Gaucher disease, juvenile and adult, cerebral - See Gaucher disease type 3
• Gaucher disease, noncerebral juvenile - See Gaucher disease type 1
• Gaucher disease, perinatal-lethal form - See Gaucher disease perinatal lethal
• Gaucher disease, subacute neuronopathic type - See Gaucher disease type 3
• Gaucher disease, type IIIC - See Gaucher disease
• Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome - See Gaucher disease
• Gaucher ichthyosis restrictive dermopathy
• Gaucher splenomegaly - See Gaucher disease
• Gaucher-like disease - See Gaucher disease
• Gaucher-like disease
• GAVE - See Watermelon stomach
• Gay Feinmesser Cohen syndrome
• Gaze palsy - See Supranuclear ocular palsy
• Gaze Palsy, Familial Horizontal, With Progressive Scoliosis - See Horizontal gaze palsy with progressive scoliosis
• Gaze palsy, horizontal, with progressive scoliosis - See Horizontal gaze palsy with progressive scoliosis
• GBA DEFICIENCY - See Gaucher disease type 1
• GBBB syndrome - See Opitz G/BBB syndrome
• GBS - See Guillain-Barre syndrome
• GCA - See Giant cell arteritis
• GCBL - See Buschke Lowenstein tumor
• GCC - See Goblet cell carcinoid
• GCC of the cervix - See Glassy cell carcinoma of the cervix
• GCL - See Krabbe disease
• GCL - See Congenital generalized lipodystrophy
• GCL4 - See Congenital generalized lipodystrophy type 4
• GCM - See Giant cell myocarditis
• GCM syndrome - See Gorlin Chaudhry Moss syndrome
• GCPS - See Greig cephalopolysyndactyly syndrome
• GCS - See Gianotti Crosti syndrome
• GCS 1 - See Camptodactyly syndrome Guadalajara type 1
• GCS1-CDG - See MOGS-CDG (CDG-IIb)
• GCSE - See Status epilepticus
• GCT of bone - See Giant cell tumor of bone
• GCT of the ovary - See Granulosa cell tumor of the ovary
• GD 1 - See Gaucher disease type 1
• GD 2 - See Gaucher disease type 2
• GD 3 - See Gaucher disease type 3
• GDLD - See Amyloidosis corneal
• GDS - See Gardner-Diamond syndrome
• Gelatinous ascites - See Pseudomyxoma peritonei
• Gelatinous drop-like corneal dystrophy - See Amyloidosis corneal
• Geleophysic dwarfism
• Geleophysic dysplasia - See Geleophysic dwarfism
• Gelineau syndrome - See Narcolepsy
• Gelineau's syndrome - See Narcolepsy
• Gemignani syndrome
• Gemistocytic astrocytoma (histologic variant) - See Diffuse astrocytoma
• GEMSS - See Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome
• Genee-Wiedemann acrofacial dysostosis - See Miller syndrome
• Genee-Wiedemann syndrome - See Miller syndrome
• Generalized arterial calcification in infancy - See Arterial calcification of infancy
• Generalized atrophic benign epidermolysis bullosa - See Junctional epidermolysis bullosa
• Generalized congenital lipodystrophy - See Congenital generalized lipodystrophy
• Generalized congenital lipodystrophy with myopathy - See Congenital generalized lipodystrophy type 4
• Generalized convulsive status epilepticus - See Status epilepticus
• Generalized deciduous skin - See Generalized peeling skin syndrome
• Generalized dominant dystrophic epidermolysis bullosa - See Dominant dystrophic epidermolysis bullosa
• Generalized EBS - See Epidermolysis bullosa simplex, generalized
• Generalized elastolysis - See Cutis laxa
• Generalized enamel hypoplasia and renal dysfunction - See Amelogenesis imperfecta nephrocalcinosis
• Generalized junctional epidermolysis bullosa, non-Herlitz type - See Junctional epidermolysis bullosa
• Generalized lichenoid papular eruption - See Scleromyxedema
• Generalized lipodystrophy-associated progeroid syndrome
• Generalized mitis RDEB - See Recessive dystrophic epidermolysis bullosa-generalized other
• Generalized papular and sclerodermoid - See Scleromyxedema
• Generalized papular and sclerodermoid lichen myxedematosus - See Scleromyxedema
• Generalized peeling skin syndrome
• Generalized PHA1 - See Autosomal recessive pseudohypoaldosteronism type 1
• Generalized progeroid lipodystrophy due to LMNA T10I mutation - See Generalized lipodystrophy-associated progeroid syndrome
• Generalized pseudohypoaldosteronism type 1 - See Autosomal recessive pseudohypoaldosteronism type 1
• Generalized PSS - See Generalized peeling skin syndrome
• Generalized pustular psoriasis
• Generalized resistance to thyroid hormone
• Genetic breast cancer - See Familial breast cancer - not a rare disease
• Genetic periodic paralysis - See Familial periodic paralysis
• Genetic reflex epilepsy
• Geniculate neuralgia - See Herpes zoster oticus
• Geniospasm - See Hereditary geniospasm
• Genital anomaly with cardiomyopathy - See Dilated cardiomyopathy with hypergonadotropic hypogonadism
• Genital dwarfism
• Genital dwarfism, Turner type
• Genital renal ear syndrome - See Mullerian aplasia
• Genital retraction syndrome - See Koro
• Genito palato cardiac syndrome
• Genitopalatocardiac syndrome - See Genito palato cardiac syndrome
• Genito-palato-cardiac syndrome - See Genito palato cardiac syndrome
• Genitopatellar syndrome
• Genoa syndrome
• Genochondromatosis
• Gentile syndrome - See COACH syndrome
• Genu valgum, hereditary pubertal - See Genu valgum, st Helena familial
• Genu valgum, st Helena familial
• Genuine diffuse phlebectasia
• Geographic choroiditis - See Serpiginous choroiditis
• Geographic helicoid peripapillary choroidopathy (GHPC) - See Serpiginous choroiditis
• Geographic serpiginous choroiditis - See Serpiginous choroiditis
• Geographic tongue - not a rare disease
• GEP tumors - See Gastro-enteropancreatic neuroendocrine tumor
• Gerhardt syndrome - See Vocal cord dysfunction familial
• Germ cell tumor of testis - Another name for Testicular germ cell tumor
• Germ cells tumors
• German measles - See Rubella
• German type amyloidosis - See Amyloidosis familial visceral
• Germinal cell aplasia - See Sertoli cell-only syndrome
• Germinoma of the central nervous system - See Central nervous system germinoma
• Geroderma osteodysplastica
• Geroderma osteodysplasticum - See Geroderma osteodysplastica
• Gerodermia osteodysplastica - See Geroderma osteodysplastica
• Gershinibaruch Leibo syndrome
• Gershoni-Baruch syndrome
• Gerstmann Badal syndrome - See Gerstmann syndrome
• Gerstmann Straussler Scheinker syndrome - See Gerstmann-Straussler-Scheinker disease
• Gerstmann syndrome
• Gerstmann tetrad - See Gerstmann syndrome
• Gerstmann-Straussler-Scheinker disease
• Gerstmann-Straussler-Scheinker syndrome - See Gerstmann-Straussler-Scheinker disease
• Gestagenic diabetes insipidus - See Gestational diabetes insipidus
• Gestational diabetes insipidus
• Gestational gigantomastia (subtype) - See Gigantomastia
• Gestational pemphigoid - See Pemphigoid gestationis
• Gestational trophoblastic disease - See Gestational trophoblastic tumor
• Gestational trophoblastic neoplasm - See Gestational trophoblastic tumor
• Gestational trophoblastic tumor
• GFD - See Jones syndrome
• GFND1 - See Glomerulopathy with fibronectin deposits 1
• GFND2 - See Glomerulopathy with fibronectin deposits 2
• GGF1 - See Gingival fibromatosis, 1
• GGF2 - See Gingival fibromatosis, 2
• GGF3 - See Gingival fibromatosis, 3
• GGF4 - See Gingival fibromatosis, 4
• GGM - See Glucose-galactose malabsorption
• GGT deficiency - See Glutathionuria
• GGT1 deficiency - See Glutathionuria
• GHDD - See Ghosal hematodiaphyseal dysplasia syndrome
• Ghosal hematodiaphyseal dysplasia - See Ghosal hematodiaphyseal dysplasia syndrome
• Ghosal hematodiaphyseal dysplasia syndrome
• Ghosal syndrome - See Ghosal hematodiaphyseal dysplasia syndrome
• Ghose Sachdev Kumar syndrome
• Giaccai type acroosteolysis - See Hereditary sensory and autonomic neuropathy type 2
• Gianotti Crosti syndrome
• Giant axonal neuropathy
• Giant axonal neuropathy 1 - See Giant axonal neuropathy
• Giant cell arteritis
• Giant cell chondrodysplasia - See Atelosteogenesis type 1
• Giant cell fibroblastoma - See Dermatofibrosarcoma protuberans
• Giant Cell Hepatitis (formerly) - See Neonatal hemochromatosis
• Giant cell inclusion disease - See Cytomegalic inclusion disease
• Giant cell myocarditis
• Giant cell tumor of bone
• Giant condyloma acuminatum involving the prepuce and glans penis - See Buschke Lowenstein tumor
• Giant condyloma of Buschke and Löwenstein - See Buschke Lowenstein tumor
• Giant congenital melanocytic nevus - See Giant congenital nevus
• Giant congenital nevus
• Giant granulocellular Abrikosov's tumor - See Granular cell tumor
• Giant hairy nevus - See Giant congenital nevus
• Giant hamartoma of the breast - See Giant mammary hamartoma
• Giant hypertrophic gastritis - See Menetrier disease
• Giant hypertrophic gastropathy - See Menetrier disease
• Giant hypertrophy of the gastric mucosa - See Menetrier disease
• Giant lymph node hyperplasia - See Castleman disease
• Giant mammary hamartoma
• Giant papillary conjunctivitis
• Giant pelvic retroperitoneal liposarcoma - See Retroperitoneal liposarcoma
• Giant pigmented hairy nevus - See Giant congenital nevus
• Giant pigmented nevus - See Giant congenital nevus
• Giant platelet disease - See Giant platelet syndrome
• Giant platelet syndrome
• Giant tongue - See Macroglossia
• Gibraltar fever - See Brucellosis
• Giedion syndrome - See Trichorhinophalangeal syndrome type 1
• Giedion-Langer syndrome - See Trichorhinophalangeal syndrome type 2
• Gigantism
• Gigantism advanced bone age hoarse cry
• Gigantomastia
• Gilbert syndrome - not a rare disease
• Gilbert's disease - See Gilbert syndrome - not a rare disease
• Gilchrist's disease - See Blastomycosis
• Gilles de la Tourette's syndrome - See Tourette syndrome - not a rare disease
• Gillespie syndrome
• GINGF1 - See Gingival fibromatosis, 1
• GINGF2 - See Gingival fibromatosis, 2
• GINGF3 - See Gingival fibromatosis, 3
• GINGF4 - See Gingival fibromatosis, 4
• Gingival fibromatosis with progressive deafness - See Jones syndrome
• Gingival fibromatosis combined with cherubism - See Ramon Syndrome
• Gingival fibromatosis with craniofacial dysmorphism - See Gingival fibromatosis with distinctive facies
• Gingival fibromatosis with distinctive facies
• Gingival fibromatosis with hypertrichosis
• Gingival fibromatosis with sensorineural hearing loss - See Jones syndrome
• Gingival fibromatosis, 1
• Gingival fibromatosis, 2
• Gingival fibromatosis, 3
• Gingival fibromatosis, 4
• Gingival fibromatosis, abnormal fingers, fingernails, nose and ears, and splenomegaly - See Laband syndrome
• Gingival hypertrophy corneal dystrophy - See Rutherfurd syndrome
• Girate atrophy of the retina - See Gyrate atrophy of choroid and retina
• Giroux Barbeau Syndrome - See Spinocerebellar ataxia 34
• GIST - See Gastrointestinal Stromal Tumors
• 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
• 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 micrognathia ear anomalies
• Glossopharyngeal neuralgia
• Glossoptosis, micrognathia, and cleft palate - See Pierre Robin sequence
• Glucagonoma
• Glucagonoma syndrome - See Glucagonoma
• 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 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 - not a rare disease
• Graves' hyperthyroidism - See Graves disease - not a rare 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 - See Mandibulofacial 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 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
• 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