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.
Subcategories
This category has the following 20 subcategories, out of 20 total.
A
C
D
- Deaths from scleroderma (17 P)
I
- Rare infectious diseases (43 P)
- Intersex variations (68 P)
M
- Mitochondrial diseases (25 P)
P
R
- Rare disease organizations (28 P)
S
T
- Tay–Sachs disease (4 P)
Pages in category "Rare diseases"
The following 200 pages are in this category, out of approximately 800 total. This list may not reflect recent changes.
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A
- AA amyloidosis
- Abdominal epilepsy
- Abetalipoproteinemia
- Absent adrenal gland
- Absent pulmonary valve syndrome
- Acheiropodia
- Achondroplasia
- Achromatopsia
- Acral myxoinflammatory fibroblastic sarcoma
- Acrocephalosyndactyly
- Acrodysostosis
- Acrofrontofacionasal dysostosis
- Acrogeria
- Acromesomelic dysplasia
- Acromicric dysplasia
- Acute disseminated encephalomyelitis
- Acute eosinophilic pneumonia
- Acute idiopathic blind spot enlargement syndrome
- Adducted thumb syndrome
- Adenosine deaminase deficiency
- Adenosine monophosphate deaminase deficiency type 1
- Adenylosuccinate lyase deficiency
- Adermatoglyphia
- Adiposis dolorosa
- Adiposogenital dystrophy
- Adipsia
- Adrenoleukodystrophy
- Adult polyglucosan body disease
- Adult-onset Still's disease
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- Aggressive fibromatosis
- AIDS dysmorphic syndrome
- Albright's hereditary osteodystrophy
- Aldolase A deficiency
- Alexander disease
- Alkaptonuria
- Alopecia universalis
- Alpha-mannosidosis
- ALS
- Alveolar capillary dysplasia
- Ameloblastic carcinoma
- Ampola syndrome
- Anomalous aortic origin of a coronary artery
- Anorectal anomalies
- Antithrombin III deficiency
- Antley–Bixler syndrome
- Aortopulmonary septal defect
- Aphallia
- Aponeurotic fibroma
- Aposthia
- Aquagenic urticaria
- Argininosuccinic aciduria
- Aromatic L-amino acid decarboxylase deficiency
- Arrhinia
- Arthrogryposis
- Aspartylglucosaminuria
- Asplenia with cardiovascular anomalies
- Atelosteogenesis type I
- Atelosteogenesis, type II
- Athetoid cerebral palsy
- Atransferrinemia
- Atypical hemolytic uremic syndrome
- Atypical trigeminal neuralgia
- Autosomal dominant hypophosphatemic rickets
- Autosomal dominant polycystic kidney disease
- Autosomal dominant porencephaly type I
- Autosomal recessive polycystic kidney disease
- Axial osteosclerosis
B
- Bachmann-Bupp syndrome
- Balo concentric sclerosis
- Banki syndrome
- Batten disease
- Becker muscular dystrophy
- Behçet's disease
- Benign acute childhood myositis
- Benign hereditary chorea
- Benign symmetric lipomatosis
- BENTA disease
- Beta-ketothiolase deficiency
- Beta-mannosidosis
- Beta thalassemia
- Bethlem myopathy
- Bietti's crystalline dystrophy
- Biliary atresia
- Binswanger's disease
- Biotin-thiamine-responsive basal ganglia disease
- Biotinidase deficiency
- Birdshot chorioretinopathy
- Bladder exstrophy
- Boomerang dysplasia
- Bosch–Boonstra–Schaaf optic atrophy syndrome
- Brachydactyly-preaxial hallux varus syndrome
- Branched-chain keto acid dehydrogenase kinase deficiency
- Breast hypertrophy
- Bronchopulmonary dysplasia
C
- Arterial calcification due to CD73 deficiency
- Calpainopathy
- Jo Cameron
- Camurati–Engelmann disease
- Canavan disease
- Carcinocythemia
- Carcinosarcoma
- Cardiocranial syndrome, Pfeiffer type
- Carnitine palmitoyltransferase I deficiency
- Carnitine-acylcarnitine translocase deficiency
- Carnosinemia
- Caroli disease
- Castleman disease
- Catamenial pneumothorax
- Catecholaminergic polymorphic ventricular tachycardia
- CD55 deficiency
- CDKL5 deficiency disorder
- Cenani–Lenz syndactylism
- Center of expertise for rare diseases
- Cerebral creatine deficiency
- Cerebroretinal microangiopathy with calcifications and cysts
- Cerebrotendinous xanthomatosis
- Cherubism
- Childhood dementia
- Childhood granulomatous periorificial dermatitis
- CHIME syndrome
- Chorea-acanthocytosis
- Citrullinemia type I
- Cleidocranial dysostosis
- Cloacal exstrophy
- Clouston's hidrotic ectodermal dysplasia
- COAT platelet defect
- Cockayne syndrome
- Cole–Carpenter syndrome
- Colloid cyst
- Combarros–Calleja–Leno syndrome
- Combined malonic and methylmalonic aciduria
- Confluent and reticulated papillomatosis
- Congenital chloride diarrhea
- Congenital disorder of glycosylation type IIc
- Congenital hyperinsulinism
- Congenital ichthyosiform erythroderma
- Congenital insensitivity to pain
- Congenital insensitivity to pain with anhidrosis
- Congenital lactic acidosis
- Congenital stromal corneal dystrophy
- Conjoined twins
- Copenhagen disease
- Corticobasal degeneration
- Cranio-lenticulo-sutural dysplasia
- Craniodiaphyseal dysplasia
- Craniofrontonasal dysplasia
- Craniometaphyseal dysplasia
- Craniopagus parasiticus
- Craniorhiny
- Craniosynostosis with anomalies of the cranial base and digits
- Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
- Craniosynostosis-fibular aplasia syndrome
- Craniosynostosis, Adelaide type
- Craniosynostosis, Philadelphia type
- Creutzfeldt–Jakob disease
- Cruveilhier–Baumgarten disease
- Cutis laxa
- Cutis marmorata telangiectatica congenita
- Cyclic neutropenia
- Cystic fibrosis
- Cystinosis
- Cytochrome b5 deficiency
- Cytochrome P450 oxidoreductase deficiency
D
- D-Glyceric acidemia
- Danon disease
- Darier's disease
- GLUT1 deficiency
- 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 infantile fibromatosis
- Diffuse panbronchiolitis
- Diphallia
- List of disorders included in newborn screening programs
- Dolichol kinase deficiency
- Donohue syndrome
- Duchenne muscular dystrophy
- Dupuytren's contracture
- Dysfibrinogenemia
- Dyskeratosis congenita