Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program G/1 ENGLISH

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





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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.

• 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