Rare Diseases and Related Terms
Rare diseases terms are either (1) terms for which information requests have
been made to the Office of Rare Diseases, the Genetic and Rare Diseases
Information Center, or the National Human Genome Research Institute; or (2)
diseases that have been suggested as being rare. The purpose of the Rare
Diseases and Related Terms list is to distribute information; although the list
is updated regularly, it should not be used as a reference or guarantee that a
condition is rare. The prevalence of a rare disease is usually an estimate and
may change over time. A rare (or orphan) disease is generally considered to have
a prevalence of fewer than 200,000 affected individuals in the United States.
Certain diseases with 200,000 or more affected individuals may be included in
this list if certain subpopulations of people who have the disease are equal to
the prevalence standard for rare diseases. We welcome suggestions for additions
to or deletions from the list. Your recommendations may be sent via e-mail to
ord@od.nih.gov
Browse by Condition
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Galactocele
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Galactokinase deficiency
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Galactorrhoea-Hyperprolactinaemia
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Galactosamine-6-sulfatase deficiency
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Galactose epimerase deficiency
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Galactosemia
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Gall bladder cancer
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Game Friedman Paradice syndrome
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Gamma aminobutyric acid transaminase deficiency
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Gamma-cystathionase deficiency
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Gamstorp episodic adynamy
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Ganglioglioma
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Gangliosidosis generalized GM1, type 1
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Gangliosidosis GM1 type 3
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Gangliosidosis, generalized GM1 type 2
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GAPO syndrome
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Gardner Morrisson Abbot syndrome
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Gardner syndrome
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Gardner-Diamond syndrome
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Garret Tripp syndrome
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Gas bloat syndrome
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Gastric lymphoma
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Gastrocutaneous syndrome
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Gastro-enteropancreatic neuroendocrine tumor
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Gastrointestinal Stromal Tumors
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Gastroschisis
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Gaucher Disease
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Gaucher disease type 1
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Gaucher disease type 2
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Gaucher disease type 3
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Gaucher ichthyosis restrictive dermopathy
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Gaucher-like disease
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Gay Feinmesser Cohen syndrome
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Gelatinous ascites
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Geleophysic dwarfism
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Gelineau's syndrome
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Gemignani syndrome
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GEMSS syndrome
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Genee-Wiedemann syndrome
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Generalized resistance to thyroid hormone
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Generalized torsion dystonia
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Genetic reflex epilepsy
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Geniospasm
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Genital dwarfism
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Genital dwarfism, Turner type
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Genito palato cardiac syndrome
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Genoa syndrome
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Genu valgum, st Helena familial
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Genu varum
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Geographic tongue
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German syndrome
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Germinal cell aplasia
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Gerodermia osteodysplastica
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Gershinibaruch Leibo syndrome
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Gershoni-Baruch syndrome
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Gertsmann syndrome
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Gestational pemphigoid
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Gestational trophoblastic disease
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Gestational Trophoblastic Neoplasms
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Ghosal hematodiaphyseal dysplasia syndrome
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Ghosal syndrome
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Ghose Sachdev Kumar syndrome
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Gianotti-Crosti syndrome
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Giant axonal neuropathy
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Giant cell myocarditis
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Giant congenital nevi
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Giant ganglionic hyperplasia
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Giant mammary hamartoma
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Giant papillary conjunctivitis
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Giant pigmented hairy nevus
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Giant platelet syndrome
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Giardiasis
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Giedion syndrome
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Gigantism
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Gigantism advanced bone age hoarse cry
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Gigantomastia
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Gilbert's syndrome
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Gingival fibromatosis dominant
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Gingival fibromatosis facial dysmorphism
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Gingival fibrosis
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Gitelman syndrome
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Glanders
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Glass Chapman Hockley syndrome
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Glassy cell carcinoma of the cervix
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Glaucoma 3, primary infantile, B
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Glaucoma iridogoniodysgenesia
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Glaucoma sleep apnea
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Glaucoma type 1C
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Glaucoma, congenital
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Glaucoma, hereditary
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Glaucoma, hereditary adult type 1A
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Glaucoma, hereditary juvenile type 1B
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Glaucoma, primary infantile type 3A
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Glioblastoma
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Glioblastoma multiforme
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Glioma
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Gliomatosis cerebri
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Gliosarcoma
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Global disaccharide intolerance
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Glomerulonephritis
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Glomerulonephritis sparse hair telangiectases
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Glomerulopathy with fibronectin deposits
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Glomus tympanicum
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Glomus vagale tumors
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Gloomy face syndrome
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Glossodynia
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Glossopalatine ankylosis micrognathia ear anomalies
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Glossopharyngeal neuralgia
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Glucagonoma
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Glucagonoma syndrome
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Glucocorticoid deficiency, familial
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Glucocorticoid resistance
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Glucocorticoid sensitive hypertension
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Glucose 6 phosphate dehydrogenase deficiency
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Glucose transport defect, blood-brain barrier
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Glucose-6-phosphate translocase deficiency
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Glucose-galactose malabsorption
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Glucosephosphate isomerase deficiency
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Glucosidase acid-1,4-alpha deficiency
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Glut2 deficiency
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Glutamate decarboxylase deficiency
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Glutamate-aspartate transport defect
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Glutamine deficiency, congenital
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Glutamine deficiency, congenital
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Glutaric aciduria 1
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Glutaric aciduria 2
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Glutathione synthetase deficiency
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Glutathionuria
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Glyceraldehyde-3-phosphate dehydrogenase deficiency
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Glycine encephalopathy
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Glycine synthase deficiency
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Glycogen storage disease type 1B
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Glycogen storage disease type 1C
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Glycogen storage disease type 1D
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Glycogen storage disease type 2
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Glycogen storage disease type 2B
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Glycogen storage disease type 3
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Glycogen storage disease type 4
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Glycogen storage disease type 5
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Glycogen storage disease type 6
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Glycogen storage disease type 6, due to phosphorylation
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Glycogen storage disease type 7
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Glycogenosis type 2
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Glycogenosis type 3
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Glycogenosis type 4
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Glycogenosis type 5
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Glycogenosis type 6
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Glycogenosis type 7
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Glycogenosis type 8
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Glycogenosis, type 0
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Glycosylphosphatidylinositol deficiency
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GM2 gangliosidosis, 0 variant
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GM2-gangliosidosis, B, B1, AB variant
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Gms syndrome
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Gnathostoma Infection
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Goldberg-Shprintzen megacolon syndrome
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Goldblatt Wallis syndrome
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Goldblatt Viljoen syndrome
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Goldenhar disease
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Goldstein Hutt syndrome
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Gollop Coates syndrome
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Gollop syndrome
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GOMBO syndrome
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Gomez Lopez Hernandez syndrome
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Gonadal dysgenesis
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Gonadal dysgenesis mixed
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Gonadal dysgenesis Turner type
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Gonadal dysgenesis XY type associated anomalies
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Gonadal dysgenesis, XX type
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Gonadal dysgenesis, XY female type
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Goniodysgenesis mental retardation short stature
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Gonococcal conjunctivitis
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Gonzales Del Angel syndrome
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Good syndrome
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Goodman camptodactyly
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Goodpasture syndrome
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Gordon hyperkaliemia-hypertension syndrome
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Gordon syndrome
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Gorham syndrome
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Gorlin Bushkell Jensen syndrome
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Gorlin Chaudhry Moss syndrome
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Gouty nephropathy, familial
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Gracile bone dysplasia
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Graft versus host disease
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Graham Boyle Troxell syndrome
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Grand Kaine Fulling syndrome
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Grant syndrome
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Granulocytopenia
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Granuloma annulare
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Granulomas, congenital cerebral
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Granulomatous Angiitis of the Central Nervous System
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Granulomatous hypophysitis
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Granulomatous rosacea
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Granulosa cell tumor of the ovary
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Graphite Pneumoconiosis
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Graves' disease
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Gray platelet syndrome
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Great vessels transposition
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Green Sandford Davison syndrome
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Greenberg dysplasia
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Greig cephalopolysyndactyly syndrome
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Griscelli syndrome type 1
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Griscelli syndrome type 2
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Griscelli syndrome type 3
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Grix Blankenship Peterson syndrome
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Groenouw type I corneal dystrophy
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Groll Hirschowitz syndrome
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Grosse syndrome
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Group B strep disease in newborns
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Grover's disease
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Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
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Growth deficiency brachydactyly unusual facies
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Growth hormone deficiency
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Growth mental deficiency syndrome of Myhre
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Growth retardation alopecia pseudoanodontia optic
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Growth retardation hydrocephaly lung hypoplasia
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Growth retardation mental retardation phalangeal hypoplasia
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Grubben de Cock Borghgraef syndrome
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GTP cyclohydrolase deficiency
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Guanidinoacetate methyltransferase deficiency
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Guillain-Barre syndrome
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Guizar Vasquez Sanchez Manzano syndrome
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Gupta Patton syndrome
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Gurrieri Sammito Bellussi syndrome
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Gusher syndrome
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Gynandroblastoma
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