Category:Rare diseases
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Pages in this category should be moved to subcategories where applicable. This category may require frequent maintenance to avoid becoming too large. It should directly contain very few, if any, pages and should mainly contain subcategories. |
A rare disease is technically defined (in the European Union) 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 499 total.
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- Abetalipoproteinemia
- Absent pulmonary valve syndrome
- Acheiropodia
- Achondroplasia
- Achromatopsia
- Acral myxoinflammatory fibroblastic sarcoma
- Acromesomelic dysplasia
- Adenosine deaminase deficiency
- Adenosine monophosphate deaminase deficiency type 1
- Adenylosuccinate lyase deficiency
- Adrenoleukodystrophy
- Adult-onset Still's disease
- Albright's hereditary osteodystrophy
- Alexander disease
- Alopecia universalis
- Alpha-mannosidosis
- Alveolar capillary dysplasia
- Ameloblastic carcinoma
- Amyotrophic lateral sclerosis
- Anomalous aortic origin of a coronary artery
- Antithrombin III deficiency
- Antley–Bixler syndrome
- Aquagenic urticaria
- Argininosuccinic aciduria
- Aromatic L-amino acid decarboxylase deficiency
- Arthrogryposis
- Aspartylglucosaminuria
- Asplenia with cardiovascular anomalies
- Atelosteogenesis type I
- Athetoid cerebral palsy
- Atransferrinemia
- Atypical hemolytic uremic syndrome
- Atypical trigeminal neuralgia
- Autosomal dominant hypophosphatemic rickets
- Autosomal recessive polycystic kidney disease
B
- Balo concentric sclerosis
- Batten disease
- Behçet's disease
- Benign symmetric lipomatosis
- BENTA disease
- Beta thalassemia
- Beta-ketothiolase deficiency
- Beta-mannosidosis
- Bietti's crystalline dystrophy
- Biliary atresia
- Binswanger's disease
- Biotinidase deficiency
- Birdshot chorioretinopathy
- Bladder exstrophy
- Bosch-Boonstra-Schaaf optic atrophy syndrome
C
- Calpainopathy
- Camurati–Engelmann disease
- Canavan disease
- Carnitine palmitoyltransferase I deficiency
- Carnitine-acylcarnitine translocase deficiency
- Caroli disease
- Catamenial pneumothorax
- Catecholaminergic polymorphic ventricular tachycardia
- CDKL5 deficiency disorder
- Cenani–Lenz syndactylism
- Cerebrotendineous xanthomatosis
- Cherubism
- Childhood granulomatous periorificial dermatitis
- CHIME syndrome
- Chorea acanthocytosis
- Chorea-acanthocytosis
- Chronic multifocal Langerhans cell histiocytosis
- Citrullinemia type I
- Cleidocranial dysostosis
- Clouston's hidrotic ectodermal dysplasia
- Cockayne syndrome
- Cole–Carpenter syndrome
- Combined malonic and methylmalonic aciduria
- Confluent and reticulated papillomatosis
- Congenital chloride diarrhea
- Congenital ichthyosiform erythroderma
- Congenital insensitivity to pain with anhidrosis
- Congenital stromal corneal dystrophy
- Corticobasal degeneration
- Cranio-lenticulo-sutural dysplasia
- Craniodiaphyseal dysplasia
- Craniofrontonasal dysplasia
- Craniometaphyseal dysplasia
- Creutzfeldt–Jakob disease
- Cruveilhier–Baumgarten disease
- Cutis laxa
- Cutis marmorata telangiectatica congenita
- Cyclic neutropenia
- Cystinosis
- Cytochrome P450 oxidoreductase deficiency
D
- Danon disease
- Deficiency of the interleukin-1–receptor antagonist
- Degos disease
- Dejerine–Sottas disease
- Dent's disease
- Denys–Drash syndrome
- Dercum's disease
- Dermatopathia pigmentosa reticularis
- Dextrocardia
- Diabetes insipidus
- Diffuse panbronchiolitis
- Donohue syndrome
- Dracunculiasis
- Dupuytren's contracture
- Dyskeratosis congenita
E
- Ectrodactyly
- Emmonsiosis
- Enamel-renal syndrome
- Endocardial fibroelastosis
- Epidermodysplasia verruciformis
- Epidermolysis bullosa
- Epidermolysis bullosa acquisita
- Epidermolysis bullosa simplex
- Epidermolytic hyperkeratosis
- Epispadias
- Erdheim–Chester disease
- Erythrokeratodermia variabilis
- Erythromelalgia
- Erythropoietic protoporphyria
- Ewing sarcoma
- Extramammary Paget's disease
F
- Fabry disease
- Facial onset sensory and motor neuronopathy
- Facioscapulohumeral muscular dystrophy
- Familial atrial fibrillation
- Familial dysautonomia
- Familial hemiplegic migraine
- Familial isolated vitamin E deficiency
- Farber disease
- Fatal insomnia
- Febrile neutrophilic dermatosis
- Fibrochondrogenesis
- Fibrodysplasia ossificans progressiva
- Fibromuscular dysplasia
- Filippi syndrome
- Florid cutaneous papillomatosis
- Focal dermal hypoplasia
- Friedreich's ataxia
- Frontonasal dysplasia
- Fucosidosis
- Fukuyama congenital muscular dystrophy
- Fumarase deficiency
G
- Galactose epimerase deficiency
- Galactosialidosis
- Gangliosidosis
- Garre's sclerosing osteomyelitis
- Gaucher's disease
- Gerodermia osteodysplastica
- Giant axonal neuropathy
- Giant platelet disorder
- Glanzmann's thrombasthenia
- Glassy cell carcinoma of the cervix
- Glucose-galactose malabsorption
- GLUT1 deficiency
- Glutathione synthetase deficiency
- Glycine encephalopathy
- Glycogen storage disease
- Glycogen storage disease type II
- Glycogen storage disease type VI
- GM1 gangliosidoses
- GM2 gangliosidoses
- GM2-gangliosidosis, AB variant
- Gorham's disease
- GOSR2-related progressive myoclonus ataxia
- Granuloma annulare
- Guanidinoacetate methyltransferase deficiency
- Gunther disease
H
- Hailey–Hailey disease
- Hallermann–Streiff syndrome
- Harlequin syndrome
- Harlequin-type ichthyosis
- Hartnup disease
- Hemiballismus
- Hemifacial hypertrophy
- Hemihydranencephaly
- Hemimegalencephaly
- Hepatic veno-occlusive disease
- Hereditary fructose intolerance
- Hereditary mucoepithelial dysplasia
- Hereditary multiple exostoses
- Hereditary sensory and autonomic neuropathy type I
- Hereditary spastic paraplegia
- Hidradenitis suppurativa
- Hirschsprung's disease
- Histidinemia
- HNRNPH2-related disorders
- Holocarboxylase synthetase deficiency
- Hydranencephaly
- Hyperekplexia
- Hyperkalemic periodic paralysis
- Hyperprolinemia
- Hypertrichosis
- Hypertryptophanemia
- Hypochondroplasia
- Hypohidrotic ectodermal dysplasia
- Hypokalemic periodic paralysis
- Hypoparathyroidism