This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp .

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

  • Baber's syndrome
  • Babesiosis
  • Bacterial endocarditis
  • Bacterial food poisoning
  • Bacterial meningitis
  • Bacterial pneumonia
  • BAER
  • Bagatelle Cassidy syndrome
  • Bahemuka Brown syndrome
  • Baker Vinters syndrome
  • Baker-Winegard syndrome
  • Balantidiasis
  • Ballard syndrome
  • Ballistophobia
  • Balo disease
  • Balo's concentric sclerosis
  • Bamforth syndrome
  • BANF acoustic neurinoma
  • Bangstad syndrome
  • Banki syndrome
  • Bannayan-Zonana syndrome
  • Banti's syndrome
  • Bantu siderosis
  • Baraitser Brett Piesowicz syndrome
  • Baraitser Rodeck Garner syndrome
  • Barber Say syndrome
  • Bardet-Biedl syndrome, type 1
  • Bardet-Biedl syndrome, type 2
  • Bardet-Biedl syndrome, type 3
  • Bardet-Biedl syndrome, type 4
  • Bare lymphocyte syndrome 2
  • Bare lymphocyte syndrome
  • Baritosis
  • Barnicoat Baraitser syndrome
  • Barrett syndrome
  • Barrow Fitzsimmons syndrome
  • Barth syndrome
  • Bartonella infections
  • Bartsocas Papa syndrome
  • Bartter syndrome, antenatal form
  • Bartter's disease
  • Basal cell nevus anodontia abnormal bone mineralization
  • Basal ganglia diseases
  • Basan syndrome
  • Basaran Yilmaz syndrome
  • Basedow's coma
  • Basilar artery migraines
  • Basilar impression primary
  • Bassoe syndrome
  • Bathophobia
  • Batrachophobia
  • Battaglia Neri syndrome
  • Batten disease
  • Batten Turner muscular dystrophy
  • Baughman syndrome
  • Bazex-Dupre-Christol syndrome
  • Bazopoulou Kyrkanidou syndrome
  • B-cell lymphomas
  • Bd syndrome
  • Beals syndrome
  • Beardwell syndrome
  • Bébé Collodion syndrome
  • Becker disease
  • Becker's muscular dystrophy
  • Becker's nevus
  • Beemer Ertbruggen syndrome
  • Beemer Langer syndrome
  • Behcet syndrome
  • Behr syndrome
  • Behrens Baumann Dust syndrome
  • Bejel
  • Bellini Chiumello Rinoldi syndrome
  • Bell's palsy
  • Ben Ari Shuper Mimouni syndrome
  • Benallegue Lacete syndrome
  • Bencze syndrome
  • Benign astrocytoma
  • Benign autosomal dominant myopathy
  • Benign congenital hypotonia
  • Benign essential blepharospasm
  • Benign essential tremor syndrome
  • Benign familial hematuria
  • Benign familial infantile convulsions
  • Benign familial infantile epilepsy
  • Benign fasciculation syndrome
  • Benign lymphoma
  • Benign mucosal pemphigoid
  • Benign paroxysmal positional vertigo
  • Bentham Driessen Hanveld syndrome
  • Berardinelli-Seip congenital lipodystrophy
  • Berdon syndrome
  • Berger disease
  • Berlin Breakage syndrome
  • Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
  • Berylliosis
  • Besnier-Boeck-Schaumann disease
  • Beta ketothiolase deficiency
  • Beta-galactosidase-1 deficiency
  • Beta-mannosidosis
  • Beta-sarcoglycanopathy
  • Beta-thalassemia major anemia
  • Beta-thalassemia
  • Bethlem myopathy
  • Bhaskar Jagannathan syndrome
  • Bibliophobia
  • Bickel Fanconi glycogenosis
  • Bicuspid aortic valve
  • Bidirectional tachycardia
  • Biemond syndrome type 1
  • Biemond syndrome type 2
  • Biemond syndrome
  • Biermer disease
  • Bifid nose dominant
  • Bilateral renal agenesis dominant type
  • Bilateral renal agenesis
  • Biliary atresia, extrahepatic
  • Biliary atresia, intrahepatic, non syndromic form
  • Biliary atresia, intrahepatic, syndromic form
  • Biliary atresia
  • Biliary cirrhosis
  • Biliary hypoplasia
  • Biliary malformation renal tubular insufficiency
  • Biliary tract cancer
  • Billard Toutain Maheut syndrome
  • Billet Bear syndrome
  • Bindewald Ulmer Muller syndrome
  • Binswanger's disease
  • Biotinidase deficiency
  • Bird headed dwarfism Montreal type
  • Birdshot chorioretinopathy
  • Birt-Hogg-Dube syndrome
  • Bixler Christian Gorlin syndrome
  • Bjornstad syndrome
  • Bladder neoplasm
  • Blaichman syndrome
  • Blastoma
  • Blastomycosis
  • Blepharo cheilo dontic syndrome
  • Blepharo facio skeletal syndrome
  • Blepharo naso facial syndrome Van maldergem type
  • Blepharonasofacial malformation syndrome
  • Blepharophimosis nasal groove growth retardation
  • Blepharophimosis ptosis esotropia syndactyly short
  • Blepharophimosis ptosis syndactyly mental retardation
  • Blepharophimosis syndrome Ohdo type
  • Blepharophimosis, ptosis, epicanthus inversus
  • Blepharophimosis
  • Blepharoptosis aortic anomaly
  • Blepharoptosis cleft palate ectrodactyly dental anomalies
  • Blepharoptosis myopia ectopia lentis
  • Blepharospasm
  • Blethen Wenick Hawkins syndrome
  • Blomstrand syndrome
  • Blood Coagulation Disorders, Inherited
  • Blood platelet disorders
  • Blood vessel disorder
  • Bloom syndrome
  • Blount disease
  • Blue cone monochromatism
  • Blue diaper syndrome
  • Blue rubber bleb nevus
  • BOD syndrome
  • Boder syndrome
  • Bone development disorder
  • Bone dysplasia Azouz type
  • Bone dysplasia corpus callosum agenesis
  • Bone dysplasia lethal Holmgren type
  • Bone dysplasia Moore type
  • Bone fragility craniosynostosis proptosis hydrocephalus
  • Bone marrow failure neurologic abnormalities
  • Bone marrow failure
  • Bone neoplasms
  • Bone tumor (generic term)
  • Bonneau-Beaumont syndrome
  • Bonneman Meinecke Reich syndrome
  • Bonnemann Meinecke syndrome
  • Bonnevie Ullrich Turner syndrome
  • Book syndrome
  • Boomerang dysplasia
  • Booth Haworth Dilling syndrome
  • BOR syndrome
  • Borjeson Syndrome
  • Bork Stender Schmidt syndrome
  • Borreliosis
  • Borrone Di Rocco Crovato syndrome
  • Boscherini Galasso Manca Bitti syndrome
  • Bosma Henkin Christiansen syndrome
  • Bothriocephalosis
  • Botulism
  • Boucher Neuhauser syndrome
  • Boudhina Yedes Khiari syndrome
  • Bourneville syndrome, type 1
  • Bourneville syndrome, type 2
  • Bourneville syndrome
  • Bowen syndrome
  • Bowen-Conradi syndrome
  • Bowenoid papulosis
  • Bowen's disease
  • Bowing congenital short bones
  • Bowing of long bones congenital
  • Boylan Dew Greco syndrome
  • Brachioskeletogenital syndrome
  • Brachman-de Lange syndrome
  • Brachycephalofrontonasal dysplasia
  • Brachycephaly deafness cataract mental retardation
  • Brachydactylous dwarfism Mseleni type
  • Brachydactyly
  • Brachydactyly absence of distal phalanges
  • Brachydactyly anonychia
  • Brachydactyly clinodactyly
  • Brachydactyly dwarfism mental retardation
  • Brachydactyly elbow wrist dysplasia
  • Brachydactyly hypertension
  • Brachydactyly long thumb type
  • Brachydactyly mesomelia mental retardation heart defects
  • Brachydactyly nystagmus cerebellar ataxia
  • Brachydactyly preaxial hallux varus
  • Brachydactyly scoliosis carpal fusion
  • Brachydactyly small stature face anomalies
  • Brachydactyly Smorgasbord type
  • Brachydactyly tibial hypoplasia
  • Brachydactyly type a1
  • Brachydactyly type a2
  • Brachydactyly type a3
  • Brachydactyly type A5 nail dysplasia
  • Brachydactyly type a6
  • Brachydactyly type a7
  • Brachydactyly type B
  • Brachydactyly type C
  • Brachydactyly type e
  • Brachydactyly types b and e combined
  • Brachymesomelia renal syndrome
  • Brachymesophalangy 2 and 5
  • Brachymesophalangy mesomelic short limbs osseous anomalies
  • Brachymesophalangy type 2
  • Brachymetapody anodontia hypotrichosis albinoidism
  • Brachymorphism onychodysplasia dysphalangism syndrome
  • Brachyolmia recessive Hobaek type
  • Brachyolmia
  • Brachytelephalangy characteristic facies Kallmann
  • Braddock Carey syndrome
  • Braddock Jones Superneau syndrome
  • Bradykinesia
  • Brain cavernous angioma
  • Brain Neoplasms
  • Brain Stem Neoplasms
  • Branchial arch defects
  • Branchial arch syndrome X linked
  • Branchio oculo facial syndrome Hing type
  • Branchio-oculo-facial syndrome
  • Branchiootorenal syndrome
  • Breast and ovarian cancer
  • Breast cancer, familial
  • Bright's disease
  • Brittle bone disease
  • Brittle bone syndrome lethal type
  • Brittle cornea syndrome
  • Broad beta disease
  • Broad-betalipoproteinemia
  • Bromidrosiphobia
  • Bronchiectasis oligospermia
  • Bronchiolitis obliterans with obstructive pulmonary disease
  • Bronchiolotis obliterans organizing pneumonia (BOOP)
  • Bronchitis, Chronic
  • Bronchogenic cyst
  • Bronchopulmonary amyloidosis
  • Bronchopulmonary dysplasia
  • Brown syndrome
  • Brown-Sequard syndrome
  • Brucellosis
  • Bruck syndrome
  • Brugada syndrome
  • Brunoni syndrome
  • Bruton type agammaglobulinemia
  • Bruyn Scheltens syndrome
  • Budd-Chiari syndrome
  • Buerger's disease
  • Bulbospinal amyotrophy, X-linked
  • Bulimia nervosa
  • Bull Nixon syndrome
  • Bullous dystrophy macular type
  • Bullous ichtyosiform erythroderma congenita
  • Bullous pemphigoid
  • Buntinx Lormans Martin syndrome
  • Burkitt's lymphoma
  • Burn Goodship syndrome
  • Burnett Schwartz Berberian syndrome
  • Burning mouth syndrome- Type 3
  • Burning mouth syndrome
  • Buschke Ollendorff syndrome
  • Bustos Simosa Pinto Cisternas syndrome
  • Buttiens Fryns syndrome
  • Butyrylcholinesterase deficiency
  • Byssinosis