Wikimedia Commons has media related to Rare diseases.
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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