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

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
• 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, childhood - See Stomach cancer, childhood
• 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
• 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 Congenital generalized lipodystrophy
• GCL - See Krabbe disease
• 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
• 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 erythroderma, diarrhea, and failure to thrive - See Erythroderma desquamativa of Leiner
• 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 ganglionic hyperplasia
• 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 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
• Gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly - See Macrocephaly mesodermal hamartoma spectrum
• 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
• 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