Category:Rare diseases
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A rare disease is technically defined as a disease that is found in fewer than 5 people per every 10,000 people.
Pages in category "Rare diseases"
The following 200 pages are in this category, out of 476 total.
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- Aarskog–Scott syndrome
- ABCD syndrome
- Abdominal epilepsy
- Abetalipoproteinemia
- Acanthamoeba keratitis
- Acheiropodia
- Achondroplasia
- Achromatopsia
- Acrocallosal syndrome
- Acrofrontofacionasal dysostosis
- Adams–Oliver syndrome
- Adducted thumb syndrome
- Adenosine deaminase deficiency
- Adenosine monophosphate deaminase deficiency type 1
- Adenylosuccinate lyase deficiency
- Adermatoglyphia
- Adiposis dolorosa
- Adrenoleukodystrophy
- Adult-onset Still's disease
- Alagille syndrome
- Aldolase A deficiency
- Alexander disease
- Alien hand syndrome
- Alopecia universalis
- Alpha-mannosidosis
- Alström syndrome
- Alveolar capillary dysplasia
- Amyotrophic lateral sclerosis
- Andersen–Tawil syndrome
- Angelman syndrome
- Antithrombin III deficiency
- Antley–Bixler syndrome
- Aortopulmonary septal defect
- Apert syndrome
- Apparent mineralocorticoid excess syndrome
- Argininosuccinic aciduria
- Aromatase excess syndrome
- Arrhinia
- Arthrogryposis
- Aspartylglucosaminuria
- Atelosteogenesis, type II
- Atransferrinemia
- Atypical trigeminal neuralgia
- Autoimmune polyendocrine syndrome
- Autosomal dominant polycystic kidney disease
- Autosomal recessive polycystic kidney disease
B
- Barakat syndrome
- Barraquer–Simons syndrome
- Batten disease
- Behçet's disease
- Behr syndrome
- Benedikt syndrome
- Benign symmetric lipomatosis
- Beta-mannosidosis
- Bhaskar–Jagannathan syndrome
- Bietti's crystalline dystrophy
- Biliary atresia
- Birdshot chorioretinopathy
- Birt–Hogg–Dubé syndrome
- Bladder exstrophy
- Bloom syndrome
- Blue diaper syndrome
- Boomerang dysplasia
- Brunner syndrome
C
- CAMFAK syndrome
- Camurati–Engelmann disease
- Canadian Organization for Rare Disorders
- Canavan disease
- Capillary leak syndrome
- Carnitine palmitoyltransferase I deficiency
- Carnitine-acylcarnitine translocase deficiency
- Carnosinemia
- Caroli disease
- Carpenter syndrome
- Caudal regression syndrome
- Cenani–Lenz syndactylism
- Cerebral salt-wasting syndrome
- Cerebrotendineous xanthomatosis
- Chédiak–Higashi syndrome
- Cholesteryl ester storage disease
- Chorea acanthocytosis
- Chromosome 5q deletion syndrome
- Cleidocranial dysostosis
- Cloacal exstrophy
- Clostridium sordellii
- Cockayne syndrome
- Coffin–Lowry syndrome
- Cogan syndrome
- Colloid cyst
- Congenital insensitivity to pain
- Congenital insensitivity to pain with anhidrosis
- Congenital stromal corneal dystrophy
- Conjoined twins
- Copenhagen disease
- Corticobasal degeneration
- Cowden syndrome
- Cranio–lenticulo–sutural dysplasia
- Craniodiaphyseal dysplasia
- Cri du chat
- Crigler–Najjar syndrome
- Crouzon syndrome
- Cryopyrin-associated periodic syndrome
- Currarino syndrome
- Cutis marmorata telangiectatica congenita
- Cyclic vomiting syndrome
- Cystic fibrosis
D
- Dandy–Walker syndrome
- Deficiency of the interleukin-1–receptor antagonist
- Degos disease
- Dent's disease
- Dermatopathia pigmentosa reticularis
- Dextrocardia
- Diabetes insipidus
- Diffuse panbronchiolitis
- Diphallia
- Dipygus
- Donohue syndrome
- Dravet syndrome
- Dubowitz syndrome
- Dupuytren's contracture
- Dyskeratosis congenita
E
- Ectrodactyly
- EEM syndrome
- Ehlers–Danlos syndrome
- Endocardial fibroelastosis
- Enterolith
- Epidermodysplasia verruciformis
- Epidermolysis bullosa
- Epidermolysis bullosa simplex
- Epidermolytic hyperkeratosis
- Erdheim–Chester disease
- Estrogen insensitivity syndrome
- Ewing's sarcoma
- Extramammary Paget's disease
F
- Fabry disease
- FACES syndrome
- Facioscapulohumeral muscular dystrophy
- Familial isolated vitamin E deficiency
- Familial male-limited precocious puberty
- Farber disease
- Fatal familial insomnia
- Febrile neutrophilic dermatosis
- Fetal trimethadione syndrome
- Fibrochondrogenesis
- Fibrodysplasia ossificans progressiva
- Fibromuscular dysplasia
- Fields' disease
- Finnish heritage disease
- Florid cutaneous papillomatosis
- Follicle-stimulating hormone insensitivity
- Fountain syndrome
- Friedreich's ataxia
- Fukuyama congenital muscular dystrophy
- Fumarase deficiency
G
- Galactocele
- Galactosialidosis
- Galloway Mowat syndrome
- Gangliosidosis
- GAPO syndrome
- Garre's sclerosing osteomyelitis
- Gaucher's disease
- Gerodermia osteodysplastica
- Gerstmann–Sträussler–Scheinker syndrome
- Gestational trophoblastic disease
- Giant axonal neuropathy
- Gitelman syndrome
- Glanzmann's thrombasthenia
- Glucagonoma
- Glutathione synthetase deficiency
- Glycogen storage disease
- Glycogen storage disease type II
- GM2-gangliosidosis, AB variant
- Goldenhar syndrome
- Gonadotropin-releasing hormone insensitivity
- Goodpasture syndrome
- Gorham's disease
- Gourmand syndrome
- GRACILE syndrome
- Gray platelet syndrome
- Griscelli syndrome
- Gunther disease
H
- Haemolacria
- Hajdu–Cheney syndrome
- Hallermann–Streiff syndrome
- Hanhart syndrome
- Harlequin syndrome
- Harlequin-type ichthyosis
- Hartnup disease
- Hay–Wells syndrome
- Hemiballismus
- Hemoglobinemia
- Hereditary multiple exostoses
- Hereditary sensory and autonomic neuropathy
- Hereditary spastic paraplegia
- Hermansky–Pudlak syndrome
- Hidradenitis suppurativa
