Rare Diseases and Related Terms
Rare diseases terms are either (1) terms for which information requests have
been made to the Office of Rare Diseases Research, the Genetic and Rare
Diseases Information Center, or the National Human Genome Research Institute;
or (2) diseases that have been suggested as being rare. The purpose of the Rare
Diseases and Related Terms list is to distribute information; although the list
is updated regularly, it should not be used as a reference or guarantee that a
condition is rare. The prevalence of a rare disease is usually an estimate and
may change over time. A rare (or orphan) disease is generally considered to
have a prevalence of fewer than 200,000 affected individuals in the United
States. Certain diseases with 200,000 or more affected individuals may be
included in this list if certain subpopulations of people who have the disease
are equal to the prevalence standard for rare diseases. We welcome suggestions
for additions to or deletions from the list. Your recommendations may be sent
via e-mail to ord@od.nih.gov
The Genetic and Rare Diseases Information Center has posted questions from the
public for the terms in bold. Click on the term to view the list of
questions in the "Questions & Answers" section.
Browse by Condition
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B cell prolymphocytic leukemia
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Babesiosis
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Baby rattle pelvic dysplasia
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Bacterial meningitis
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Baetz-Greenwalt syndrome
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Bagatelle Cassidy syndrome
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Baker Vinters syndrome
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Balantidiasis
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Balkan endemic nephropathy
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Baller-Gerold syndrome
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Balo disease
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Balo's concentric sclerosis
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Bamforth syndrome
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BANF acoustic neurinoma
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Banki syndrome
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Bannayan-Riley-Ruvalcaba syndrome
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Banti's syndrome
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Bantu siderosis
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Baraitser Brett Piesowicz syndrome
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Baraitser Rodeck Garner syndrome
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Barakat syndrome
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Barber Say syndrome
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Bardet-Biedl syndrome
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Bardet-Biedl syndrome 1
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Bardet-Biedl syndrome 10
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Bardet-Biedl syndrome 11
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Bardet-Biedl syndrome 12
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Bardet-Biedl syndrome 2
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Bardet-Biedl syndrome 3
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Bardet-Biedl syndrome 4
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Bardet-Biedl syndrome 5
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Bardet-Biedl syndrome 6
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Bardet-Biedl syndrome 7
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Bardet-Biedl syndrome 8
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Bardet-Biedl syndrome 9
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Bare lymphocyte syndrome
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Bare lymphocyte syndrome 2
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Baritosis
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Barnicoat Baraitser syndrome
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Baroreflex failure
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Barraquer-Simons syndrome
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Barth syndrome
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Bartter syndrome
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Bartter syndrome antenatal type 1
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Bartter syndrome antenatal type 2
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Bartter syndrome type 3
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Bartter syndrome type 4
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Basal cell carcinoma, infundibulocystic
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Basal cell carcinoma, multiple
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Basal cell nevus anodontia abnormal bone mineralization
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Basal ganglia disease, biotin-responsive
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Basaloid follicular hamartoma
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Basan syndrome
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Basaran Yilmaz syndrome
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Basedow's coma
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Basilar migraine
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Bassoe syndrome
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Battaglia Neri syndrome
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Batten disease
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Bazex-Dupre-Christol syndrome
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Bazopoulou-Kyrkanidou syndrome
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B-cell lymphomas
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Bd syndrome
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Beardwell syndrome
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Becker muscular dystrophy
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Becker nevus syndrome
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Becker's nevus
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Beckwith-Wiedemann syndrome
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Bednar's tumor
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Beemer Ertbruggen syndrome
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Behcet's disease
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Behr syndrome
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Bejel
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Bell's palsy
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Ben Ari Shuper Mimouni syndrome
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Benallegue Lacete syndrome
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Benign angiitis of the central nervous system
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Benign autosomal dominant myopathy
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Benign eccrine spiradenoma
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Benign familial infantile epilepsy
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Benign familial neonatal-infantile seizures
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Benign hyperphenylalaninemia
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Benign metastasizing leiomyoma
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Benign multicystic peritoneal mesothelioma
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Benign paroxysmal positional vertigo
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Benign recurrent intrahepatic cholestasis 1
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Benign recurrent intrahepatic cholestasis 2
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Benign rolandic epilepsy (BRE)
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Bent bone dysplasia syndrome
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Berger disease
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Beriberi
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Berk-Tabatznik syndrome
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Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
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Berylliosis
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Best vitelliform macular dystrophy
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Best1 retinopathy
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Beta ketothiolase deficiency
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Beta-galactosidase-1 deficiency
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Beta-sarcoglycanopathy
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Beta-thalassemia
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Bethlem myopathy
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Beukes familial hip dysplasia
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Bhaskar Jagannathan syndrome
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Bidirectional tachycardia
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Biemond syndrome
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Biemond syndrome 2
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Biemond syndrome type 1
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Biermer disease
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Bietti crystalline corneoretinal dystrophy
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Bifid nose
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Bifid nose with or without anorectal and renal anomalies
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Bilateral frontal polymicrogyria
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Bilateral frontoparietal polymicrogyria
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Bilateral generalized polymicrogyria
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Bilateral parasagittal parieto-occipital polymicrogyria
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Bilateral perisylvian polymicrogyria
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Bilateral renal agenesis dominant type
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Bile acid synthesis defect, congenital, 1
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Bile acid synthesis defect, congenital, 2
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Bile acid synthesis defect, congenital, 4
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Bile duct cancer
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Bile duct cysts
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Biliary atresia extrahepatic
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Biliary atresia intrahepatic non syndromic form
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Biliary atresia intrahepatic syndromic form
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Biliary hypoplasia
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Biliary tract cancer
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Bilirubin induced brain injury in the newborn
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Billet Bear syndrome
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Binswanger's disease
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Biotinidase deficiency
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Bird headed dwarfism Montreal type
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Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency
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Birdshot chorioretinopathy
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Birk Barel mental retardation dysmorphism syndrome
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Birt-Hogg-Dube syndrome
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Bixler Christian Gorlin syndrome
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Bjornstad syndrome
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BK-virus nephropathy
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Bladder cancer, childhood
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Blaichman syndrome
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Blastic plasmacytoid dendritic cell
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Blastoma
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Blastomycosis
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Blau syndrome
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Blepharo naso facial syndrome Van maldergem type
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Blepharofacioskeletal syndrome
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Blepharonasofacial malformation syndrome
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Blepharophimosis
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Blepharophimosis intellectual disability syndromes
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Blepharophimosis with ptosis, syndactyly, and short stature
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Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
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Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
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Blepharoptosis myopia ectopia lentis
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Blepharospasm
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Bloom syndrome
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Blount disease
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Blue cone monochromatism
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Blue diaper syndrome
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Blue rubber bleb nevus syndrome
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Bobble-head doll syndrome
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BOD syndrome
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Boerhaave syndrome
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Bone cancer
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Bone dysplasia Azouz type
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Bone dysplasia corpus callosum agenesis
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Bone dysplasia lethal Holmgren type
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Bone dysplasia Moore type
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Book syndrome
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Boomerang dysplasia
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BOR-Duane hydrocephalus contiguous gene syndrome
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Borjeson-Forssman-Lehmann syndrome
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Bork Stender Schmidt syndrome
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Borrone Di Rocco Crovato syndrome
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Bothriocephalosis
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Botulism
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Boucher Neuhauser syndrome
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Boudhina Yedes Khiari syndrome
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Bourneville syndrome
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Bow hunter's stroke
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Bowen syndrome
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Bowen-Conradi syndrome
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Bowenoid papulosis
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Bowen's disease
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Bowing of legs, anterior with dwarfism
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Bowing of long bones congenital
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Boylan Dew Greco syndrome
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Brachial amelia, forebrain defects and facial clefts
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Brachioskeletogenital syndrome
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Brachycephalofrontonasal dysplasia
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Brachydactylous dwarfism Mseleni type
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Brachydactyly absence of distal phalanges
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Brachydactyly anonychia
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Brachydactyly dwarfism mental retardation
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Brachydactyly elbow wrist dysplasia
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Brachydactyly long thumb type
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Brachydactyly mesomelia mental retardation heart defects
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Brachydactyly Mononen type
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Brachydactyly preaxial with hallux varus and thumb abduction
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Brachydactyly small stature face anomalies
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Brachydactyly tibial hypoplasia
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Brachydactyly type A1
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Brachydactyly type A2
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Brachydactyly type A3
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Brachydactyly type A4
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Brachydactyly type A5
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Brachydactyly type A6
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Brachydactyly type A7
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Brachydactyly type B
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Brachydactyly type C
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Brachydactyly type E
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Brachydactyly types B and E combined
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Brachydactyly with hypertension
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Brachymesomelia renal syndrome
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Brachymesophalangy type 2
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Brachymetapody anodontia hypotrichosis albinoidism
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Brachyolmia
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Brachyolmia type 1 Hobaek type
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Brachyolmia type 3
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Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
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Braddock Jones Superneau syndrome
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Brain stem cancer
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Brain stem glioma, childhood
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Brain tumor, adult
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Brain tumor, childhood
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Branchial arch defects
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Branchial arch syndrome X-linked
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Branchiooculofacial syndrome
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Branchiootic syndrome
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Branchiootorenal syndrome
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Breast cancer, childhood
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Breast cancer, male
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Brenner tumor of ovary
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Brenner tumor of the vagina
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Brittle bone syndrome lethal type
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Brittle cornea syndrome
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Brody myopathy
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Bronchial adenomas/carcinoids childhood
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Bronchiectasis oligospermia
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Bronchiolitis obliterans
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Bronchiolitis obliterans organizing pneumonia
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Bronchogenic cyst
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Bronchopulmonary dysplasia
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Brooke-Spiegler syndrome
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Brooks Wisniewski Brown syndrome
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Brown syndrome
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Brown-Sequard syndrome
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Brown-Vialetto-Van Laere syndrome
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Brucellosis
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Bruck syndrome 1
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Bruck syndrome 2
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Brugada syndrome
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Brugada syndrome 3
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Brugada syndrome 4
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Brunoni syndrome
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Brunsting-Perry syndrome
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Bruyn Scheltens syndrome
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Bubonic plague
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Budd-Chiari syndrome
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Buerger disease
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Bullous dystrophy hereditary macular type
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Bullous pemphigoid
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Burkitt lymphoma
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Burn Goodship syndrome
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Burnett Schwartz Berberian syndrome
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Burning mouth syndrome type 3
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Burn-Mckeown syndrome
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Buruli ulcer
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Buschke Lowenstein tumor
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Buschke Ollendorff syndrome
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Bustos Simosa Pinto Cisternas syndrome
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Byssinosis