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 Research, 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
The Genetic and Rare Diseases Information Center has posted questions from the
public for the terms in bold. Click on the term to view the list of
questions in the "Questions & Answers" section.
Browse by Condition
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Galactocele
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Galactokinase deficiency
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Galactorrhoea-Hyperprolactinaemia
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Galactose epimerase deficiency
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Galactosemia
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Galactosialidosis
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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 heavy chain disease
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Gamma-cystathionase deficiency
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Gangliocytoma
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Ganglioglioma
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GAPO syndrome
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Gardner Morrison 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 duplication cysts
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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 perinatal lethal
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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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Gemignani syndrome
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Genee-Wiedemann syndrome
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Generalized dominant dystrophic epidermolysis bullosa
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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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Genitopatellar syndrome
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Genoa syndrome
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Genochondromatosis
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Genu valgum, st Helena familial
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Geographic tongue
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German syndrome
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Germinoma
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Geroderma osteodysplasticum
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Gershinibaruch Leibo syndrome
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Gershoni-Baruch syndrome
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Gerstmann syndrome
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Gerstmann-Straussler-Scheinker disease
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Gestational diabetes insipidus
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Gestational trophoblastic tumor
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Ghosal hematodiaphyseal dysplasia 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 arteritis
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Giant cell myocarditis
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Giant congenital nevus
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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 platelet 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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Gingival fibromatosis with distinctive facies
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Gingival fibromatosis with hypertrichosis
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Gingival fibromatosis, 1
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Gingival fibromatosis, 2
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Gingival fibromatosis, 3
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Gingival fibromatosis, 4
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Gitelman syndrome
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Glanders
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Glanzmann thrombasthenia
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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, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome
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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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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 with sparse hair and telangiectases
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Glomerulopathy with fibronectin deposits 1
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Glomerulopathy with fibronectin deposits 2
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Glomus jugulare tumors
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Glomus tympanicum tumor
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Glomus vagale tumors
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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 resistance
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Glucocorticoid-remediable aldosteronism
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Glucose transporter type 1 deficiency syndrome
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Glucose-6-phosphate dehydrogenase deficiency
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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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Glutamate decarboxylase deficiency
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Glutamate formiminotransferase deficiency
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Glutamine deficiency, congenital
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Glutaric acidemia type I
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Glutaric acidemia type II
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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 N-methyltransferase deficiency
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Glycogen storage disease 8
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Glycogen storage disease type 0
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Glycogen storage disease type 0, muscle
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Glycogen storage disease type 12
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Glycogen storage disease type 13
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Glycogen storage disease type 14
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Glycogen storage disease type 1A
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Glycogen storage disease type 1B
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Glycogen storage disease type 2
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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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Glycoproteinosis
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Glycosylphosphatidylinositol deficiency
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GM1 gangliosidosis
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GM1 gangliosidosis type 1
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GM1 gangliosidosis type 2
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GM1 gangliosidosis type 3
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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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Goblet cell carcinoma
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Goldberg-Shprintzen megacolon syndrome
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Goldenhar disease
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Goldmann-Favre syndrome
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Gollop Coates 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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Goniodysgenesis mental retardation short stature
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Gonococcal conjunctivitis
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Good syndrome
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Goodman syndrome
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Goodpasture syndrome
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Gordon syndrome
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Gorham's disease
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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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GRACILE syndrome
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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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Granuloma Inguinale
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Granulomas, congenital cerebral
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Granulomatous hypophysitis
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Granulomatous rosacea
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Granulomatous slack skin disease
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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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Gray zone lymphoma
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Green Sandford Davison syndrome
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Greig cephalopolysyndactyly syndrome
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Griscelli 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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Group B strep disease in newborns
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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 hormone insensitivity with immunodeficiency
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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 I 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 syndrome
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Guttate psoriasis
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Gynandroblastoma
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Gyrate atrophy of choroid and retina