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Subcategories
This category has the following 5 subcategories, out of 5 total.
C
- Rare cancers (124 P)
- Cystic fibrosis (27 P)
I
- Rare infectious diseases (39 P)
M
- Motor neuron diseases (27 P)
S
- Rare syndromes (414 P)
Pages in category "Rare diseases"
The following 200 pages are in this category, out of 804 total.
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A
- Medicine:AA amyloidosis
- Medicine:Abdominal epilepsy
- Medicine:Abetalipoproteinemia
- Medicine:Absent adrenal gland
- Medicine:Absent pulmonary valve syndrome
- Medicine:Acheiropodia
- Medicine:Achondroplasia
- Medicine:Achromatopsia
- Medicine:Acral myxoinflammatory fibroblastic sarcoma
- Medicine:Acrocephalosyndactyly
- Medicine:Acrodysostosis
- Medicine:Acrofrontofacionasal dysostosis
- Medicine:Acrogeria
- Medicine:Acromesomelic dysplasia
- Medicine:Acromicric dysplasia
- Medicine:Acute disseminated encephalomyelitis
- Medicine:Acute eosinophilic pneumonia
- Medicine:Adducted thumb syndrome
- Medicine:Adenosine deaminase deficiency
- Medicine:Adenosine monophosphate deaminase deficiency type 1
- Medicine:Adenylosuccinate lyase deficiency
- Medicine:Adermatoglyphia
- Unsolved:Adiposis dolorosa
- Medicine:Adiposogenital dystrophy
- Medicine:Adipsia
- Medicine:Adrenoleukodystrophy
- Medicine:Adult-onset Still's disease
- Medicine:Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- Medicine:Aggressive fibromatosis
- Medicine:AIDS dysmorphic syndrome
- Medicine:Albright's hereditary osteodystrophy
- Medicine:Aldolase A deficiency
- Medicine:Alexander disease
- Medicine:Alkaptonuria
- Medicine:Alopecia universalis
- Medicine:Alpha-mannosidosis
- Medicine:ALS
- Medicine:Alveolar capillary dysplasia
- Medicine:Ameloblastic carcinoma
- Medicine:Amyotrophic lateral sclerosis
- Medicine:Anomalous aortic origin of a coronary artery
- Medicine:Anorectal anomalies
- Medicine:Antithrombin III deficiency
- Medicine:Antley–Bixler syndrome
- Medicine:Aortopulmonary septal defect
- Medicine:Aphallia
- Medicine:Aponeurotic fibroma
- Medicine:Aposthia
- Medicine:Aquagenic urticaria
- Medicine:Argininosuccinic aciduria
- Medicine:Aromatic L-amino acid decarboxylase deficiency
- Medicine:Arrhinia
- Medicine:Arthrogryposis
- Medicine:Aspartylglucosaminuria
- Medicine:Asplenia with cardiovascular anomalies
- Medicine:Atelosteogenesis type I
- Medicine:Atelosteogenesis, type II
- Medicine:Athetoid cerebral palsy
- Medicine:Atransferrinemia
- Medicine:Atypical hemolytic uremic syndrome
- Medicine:Atypical trigeminal neuralgia
- Medicine:Autosomal dominant hypophosphatemic rickets
- Medicine:Autosomal dominant polycystic kidney disease
- Medicine:Autosomal dominant porencephaly type I
- Medicine:Autosomal recessive polycystic kidney disease
B
- Medicine:Bachmann-Bupp syndrome
- Medicine:Balo concentric sclerosis
- Medicine:Banki syndrome
- Medicine:Batten disease
- Medicine:Behçet's disease
- Medicine:Benign acute childhood myositis
- Medicine:Benign hereditary chorea
- Medicine:Benign symmetric lipomatosis
- Medicine:BENTA disease
- Medicine:Beta-ketothiolase deficiency
- Medicine:Beta-mannosidosis
- Medicine:Beta thalassemia
- Medicine:Bethlem myopathy
- Medicine:Bietti's crystalline dystrophy
- Medicine:Biliary atresia
- Medicine:Binswanger's disease
- Medicine:Biotin-thiamine-responsive basal ganglia disease
- Medicine:Biotinidase deficiency
- Medicine:Birdshot chorioretinopathy
- Medicine:Bladder exstrophy
- Medicine:Boomerang dysplasia
- Medicine:Bosch-Boonstra-Schaaf optic atrophy syndrome
- Medicine:Brachydactyly-preaxial hallux varus syndrome
- Medicine:Branched-chain keto acid dehydrogenase kinase deficiency
- Medicine:Breast hypertrophy
- Medicine:Bronchopulmonary dysplasia
C
- Medicine:Arterial calcification due to CD73 deficiency
- Medicine:Calpainopathy
- Medicine:Camurati–Engelmann disease
- Organization:Canadian Organization for Rare Disorders
- Medicine:Canavan disease
- Medicine:Carcinocythemia
- Medicine:Carcinosarcoma
- Medicine:Cardiocranial syndrome, Pfeiffer type
- Medicine:Carnitine palmitoyltransferase I deficiency
- Medicine:Carnitine-acylcarnitine translocase deficiency
- Medicine:Carnosinemia
- Medicine:Caroli disease
- Medicine:Castleman disease
- Medicine:Catamenial pneumothorax
- Medicine:Catecholaminergic polymorphic ventricular tachycardia
- Medicine:CD55 deficiency
- Medicine:CDKL5 deficiency disorder
- Medicine:Cenani–Lenz syndactylism
- Medicine:Center of expertise for rare diseases
- Medicine:Cerebroretinal microangiopathy with calcifications and cysts
- Medicine:Cerebrotendineous xanthomatosis
- Medicine:Cherubism
- Medicine:Childhood granulomatous periorificial dermatitis
- Medicine:CHIME syndrome
- Medicine:Chorea acanthocytosis
- Medicine:Chorea-acanthocytosis
- Medicine:Citrullinemia type I
- Medicine:Cleidocranial dysostosis
- Medicine:Cloacal exstrophy
- Medicine:Clouston's hidrotic ectodermal dysplasia
- Medicine:COAT platelet defect
- Medicine:Cockayne syndrome
- Medicine:Cole-Carpenter syndrome
- Medicine:Cole–Carpenter syndrome
- Medicine:Colloid cyst
- Medicine:Combarros-Calleja-Leno syndrome
- Medicine:Combarros–Calleja–Leno syndrome
- Medicine:Combined malonic and methylmalonic aciduria
- Medicine:Confluent and reticulated papillomatosis
- Medicine:Congenital chloride diarrhea
- Medicine:Congenital disorder of glycosylation type IIc
- Medicine:Congenital hyperinsulinism
- Medicine:Congenital ichthyosiform erythroderma
- Medicine:Congenital insensitivity to pain
- Medicine:Congenital insensitivity to pain with anhidrosis
- Medicine:Congenital lactic acidosis
- Medicine:Congenital stromal corneal dystrophy
- Medicine:Conjoined twins
- Medicine:Copenhagen disease
- Medicine:Corticobasal degeneration
- Medicine:Cranio-lenticulo-sutural dysplasia
- Medicine:Cranio–lenticulo–sutural dysplasia
- Medicine:Craniodiaphyseal dysplasia
- Medicine:Craniofrontonasal dysplasia
- Medicine:Craniometaphyseal dysplasia
- Medicine:Craniopagus parasiticus
- Medicine:Craniorhiny
- Medicine:Craniosynostosis, Adelaide type
- Medicine:Craniosynostosis, Philadelphia type
- Medicine:Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
- Medicine:Craniosynostosis-fibular aplasia syndrome
- Medicine:Creutzfeldt–Jakob disease
- Medicine:Cruveilhier–Baumgarten disease
- Medicine:Cutis laxa
- Medicine:Cutis marmorata telangiectatica congenita
- Medicine:Cyclic neutropenia
- Medicine:Cystic fibrosis
- Medicine:Cystinosis
- Medicine:Cytochrome b5 deficiency
- Medicine:Cytochrome P450 oxidoreductase deficiency
D
- Medicine:D-Glyceric acidemia
- Medicine:Danon disease
- Medicine:Darier's disease
- Medicine:GLUT1 deficiency
- Medicine:Glut1 deficiency
- Medicine:Deficiency of the interleukin-1–receptor antagonist
- Medicine:Degos disease
- Medicine:Dejerine–Sottas disease
- Medicine:Dent's disease
- Medicine:Denys–Drash syndrome
- Medicine:Dercum's disease
- Medicine:Dermatopathia pigmentosa reticularis
- Medicine:Dextrocardia
- Medicine:Diabetes insipidus
- Medicine:Diffuse infantile fibromatosis
- Medicine:Diffuse panbronchiolitis
- Medicine:Diphallia
- Medicine:Dipygus
- Medicine:Dolichol kinase deficiency
- Medicine:Donohue syndrome
- Medicine:Dupuytren's contracture
- Medicine:Dysfibrinogenemia
- Medicine:Dyskeratosis congenita
E
- Medicine:EAST syndrome
- Medicine:Ectopia cordis
- Medicine:Ectrodactyly
- Medicine:EIF5A
- Medicine:Emmonsiosis
- Medicine:Enamel-renal syndrome
- Medicine:Endocardial fibroelastosis
- Medicine:Enterolith
- Medicine:Epidermodysplasia verruciformis
- Medicine:Epidermolysis bullosa
- Medicine:Epidermolysis bullosa acquisita