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, 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
Browse by Condition
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Baber's syndrome
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Babesiosis
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Baby rattle pelvic dysplasia
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Bacterial endocarditis
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Bacterial meningitis
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BAER
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Baetz-Greenwalt syndrome
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Bagatelle Cassidy syndrome
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Bahemuka Brown syndrome
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Baker Vinters syndrome
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Baker-Winegrad disease
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Balantidiasis
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Ballard 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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Bangstad syndrome
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Banki syndrome
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Bannayan-Zonana 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 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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Barre Lieou syndrome
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Barth syndrome
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Bartsocas Papa syndrome
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Bartter syndrome, antenatal , type 2
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Bartter syndrome, antenatal type 1
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Bartter syndrome, type 3
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Bartter's syndrome
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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 calcification, idiopathic 2
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Basal ganglia disease, biotin-responsive
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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 artery migraines
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Basilar impression primary
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Bassoe syndrome
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Battaglia Neri syndrome
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Batten Turner muscular dystrophy
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Baughman syndrome
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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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Bebe Collodion syndrome
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Becker's muscular dystrophy
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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 syndrome
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Behr syndrome
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Behrens Baumann Dust syndrome
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Bejel
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Bellini Chiumello Rinoldi syndrome
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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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Bencze syndrome
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Benign angiitis of the central nervous system
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Benign astrocytoma
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Benign autosomal dominant myopathy
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Benign congenital hypotonia
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Benign essential blepharospasm
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Benign essential tremor syndrome
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Benign familial hematuria
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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 lymphoma
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Benign mucosal pemphigoid
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Benign paroxysmal positional vertigo
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Benign rolandic epilepsy (BRE)
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Bentham Driessen Hanveld syndrome
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Berger disease
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Beriberi
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Berk-Tabatznik syndrome
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Berlin Breakage 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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Bhaskar Jagannathan syndrome
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Bidirectional tachycardia
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Biemond syndrome
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Biemond syndrome type 1
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Biemond syndrome type 2
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Biermer disease
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Bietti's crystalline dystrophy
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Bifid nose
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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, extrahepatic
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Bile duct cysts
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Biliary atresia
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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 cirrhosis
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Biliary hypoplasia
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Biliary malformation renal tubular insufficiency
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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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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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Bladder cancer childhood
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Bladder neoplasm
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Blaichman syndrome
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Blastoma
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Blastomycosis
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Blepharo facio skeletal syndrome
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Blepharo naso facial syndrome Van maldergem type
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Blepharophimosis
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Blepharophimosis nasal groove growth retardation
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Blepharophimosis ptosis esotropia syndactyly short
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Blepharophimosis syndrome Ohdo type
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Blepharophimosis syndrome type 1
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Blepharophimosis syndrome type 2
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Blepharophimosis with ptosis, syndactyly, and short stature
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Blepharoptosis aortic anomaly
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Blepharoptosis cleft palate ectrodactyly dental anomalies
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Blepharoptosis myopia ectopia lentis
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Blepharospasm
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Blethen Wenick Hawkins syndrome
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Blinding trachoma
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Blood coagulation disorders, inherited
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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
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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 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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Bone fragility craniosynostosis proptosis hydrocephalus
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Bone neoplasms
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Bonneau-Beaumont syndrome
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Bonneman Meinecke Reich syndrome
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Bonnemann Meinecke syndrome
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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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Borreliosis
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Borrone Di Rocco Crovato syndrome
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Boscherini Galasso Manca Bitti syndrome
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Bosma Henkin Christiansen 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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Bourneville syndrome, type 1
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Bourneville syndrome, type 2
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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 congenital short bones
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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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Brachioskeletogenital syndrome
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Brachman-de Lange 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 clinodactyly
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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 nystagmus cerebellar ataxia
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Brachydactyly preaxial with hallux varus and thumb abduction
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Brachydactyly scoliosis carpal fusion
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Brachydactyly small stature face anomalies
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Brachydactyly Smorgasbord type
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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 A5 nail dysplasia
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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 2 and 5
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Brachymesophalangy type 2
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Brachymetapody anodontia hypotrichosis albinoidism
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Brachymorphism onychodysplasia dysphalangism syndrome
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Brachyolmia
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Brachyolmia, recessive Hobaek type
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Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
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Brachytelephalangy characteristic facies Kallmann
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Braddock Jones Superneau syndrome
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Bradykinesia
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Brain stem glioma, childhood
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Brain Stem neoplasms
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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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Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and
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Branchio oculo facial syndrome Hing type
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Branchio-oculo-facial syndrome
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Branchiootic syndrome
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Branchiootorenal syndrome 1
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Branchiootorenal syndrome 2
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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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Broad beta disease
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Broad-betalipoproteinemia
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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 organizing pneumonia
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Bronchiolitis obliterans with obstructive pulmonary disease
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Bronchogenic cyst
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Bronchopulmonary amyloidosis
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Bronchopulmonary dysplasia
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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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Bruton type agammaglobulinemia
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Bruyn Scheltens syndrome
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Budd-Chiari syndrome
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Buerger's disease
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Bulbospinal amyotrophy, X-linked
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Bull Nixon syndrome
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Bullous dystrophy macular type
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Bullous erythroderma ichthyosiformis congenita of Brocq
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Bullous pemphigoid
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Buntinx Lormans Martin syndrome
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Burkitt's lymphoma
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Burn Goodship syndrome
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Burnett Schwartz Berberian syndrome
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Burning mouth 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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Buttiens Fryns syndrome
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Butyrylcholinesterase deficiency
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Byssinosis
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