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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Diseases Beginning With B

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.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

Is Rare Condition? Disease Name
* B cell lymphoma, indolent - See Indolent B cell lymphoma
* B cell prolymphocytic leukemia
* B coli infection - See Balantidiasis
* B pseudomallei infection - See Meliodosis
* B variant GM2 gangliosidosis - See Tay-Sachs disease
* B6-responsive sideroblastic anemia - See Sideroblastic anemia pyridoxine-responsive autosomal recessive
* Babesia parasite infection - See Babesiosis
* Babesiosis
* Babinski-Froelich syndrome - See Froelich syndrome
* Baby rattle pelvic dysplasia
* BACNS - See Benign angiitis of the central nervous system
* Bacterial meningitis
* Bacterial toxic-shock syndrome - See Staphylococcal toxic shock syndrome
*   BAER - See Brainstem auditory evoked responses
* Baetz-Greenwalt syndrome
* Bagatelle Cassidy syndrome
* Bahemuka Brown syndrome - See Spastic paraplegia facial cutaneous lesions
* Baird syndrome - See Absence of fingerprints congenital milia
* Baker Vinters syndrome
* Baker-Winegrad disease - See Fructose-1,6-bisphosphatase deficiency
* BAL - See Acute biphenotypic leukemia
* Balantidiasis
* Balantidiosis - See Balantidiasis
* Balantidium coli infection - See Balantidiasis
* Balikova-Vermeesch syndrome - See Microtia eye coloboma and imperforation of the nasolacrimal duct
* Balkan endemic nephropathy
* Ballard syndrome - See Brachydactyly types B and E combined
* Baller-Gerold syndrome
* Ballinger Wallace syndrome - See Maternally inherited diabetes and deafness
* Balo disease
* Balo's concentric sclerosis
* Bamforth syndrome
* Bamforth-Lazarus syndrome - See Bamforth syndrome
* Bancroftian filariasis - See Lymphatic filariasis
* BANF acoustic neurinoma
* Bangstad syndrome - See Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency
* Banki syndrome
* Bannayan-Riley-Ruvalcaba syndrome
* Bannayan-Zonana syndrome - See Bannayan-Riley-Ruvalcaba syndrome
* Banti's disease - See Banti's syndrome
* Banti's syndrome
* Bantu siderosis
* Baraitser Brett Piesowicz syndrome
* Baraitser Rodeck Garner syndrome
* Baraitser-Burn syndrome - See Orofaciodigital syndrome 4
* Baraitser-Winter syndrome
* Barakat syndrome
* Barber Say syndrome
* Bardet-Biedl syndrome
* Bardet-Biedl syndrome 1
* Bardet-Biedl syndrome 10
* Bardet-Biedl syndrome 11
* Bardet-Biedl syndrome 12
* Bardet-Biedl syndrome 2
* Bardet-Biedl syndrome 3
* Bardet-Biedl syndrome 4
* Bardet-Biedl syndrome 5
* Bardet-Biedl syndrome 6
* Bardet-Biedl syndrome 7
* Bardet-Biedl syndrome 8
* Bardet-Biedl syndrome 9
* Bare lymphocyte syndrome
* Bare lymphocyte syndrome 2
* Bare lymphocyte syndrome type 2 - See Bare lymphocyte syndrome 2
* Baritosis
* Barlow syndrome - See Mitral valve prolapse, familial, X-linked
* Barnes syndrome - See Thoracolaryngopelvic dysplasia
* Barnicoat Baraitser syndrome
* Barnicoat-Baraitser syndrome - See Barnicoat Baraitser syndrome
* Baroreflex failure
* Barraquer-Simons syndrome
*   Barrett esophagus - See Barrett syndrome
*   Barrett syndrome
*   Barrett ulcer - See Barrett syndrome
* Barry Perkins Young syndrome - See Young syndrome
* Barth syndrome
* Bartonellosis due to Bartonella henselae infection - See Cat scratch disease
* Bart-Pumphrey syndrome - See Knuckle pads, leuconychia and sensorineural deafness
* Bartsocas Papas syndrome - See Popliteal pterygium syndrome lethal type
* Bartter syndrome
* Bartter syndrome antenatal type 1
* Bartter syndrome antenatal type 2
* Bartter syndrome classic - See Bartter syndrome type 3
* Bartter syndrome type 3
* Bartter syndrome type 4
* Bartter syndrome with sensorineural deafness - See Bartter syndrome type 4
* Bartter's syndrome - See Bartter syndrome
* Basal cell carcinoma with follicular differentiation - See Basal cell carcinoma, infundibulocystic
* Basal cell carcinoma, infundibulocystic
* Basal cell carcinoma, multiple
* Basal cell nevus anodontia abnormal bone mineralization
* Basal Cell Nevus Syndrome - See Nevoid basal cell carcinoma syndrome
* Basal cell nevus, anodontia, abnormal bone mineralization - See Aloi Tomasini Isaia syndrome
* Basal ganglia disease adult-onset - See Neuroferritinopathy
* Basal ganglia disease, biotin-responsive
* Basal ganglia disorder with mental retardation - See Parkinsonism, early onset with mental retardation
* Basaloid follicular hamartoma
* Basan syndrome
* Basaran Yilmaz syndrome
* Basedow disease - See Graves' disease
* Basedow's coma
* Basilar artery migraine - See Basilar migraine
* Basilar impression, primary - See Primary basilar impression
* Basilar migraine
* Bassen Kornzweig syndrome - See Abetalipoproteinemia
* Bassoe syndrome
* Bathing trunk nevus - See Giant congenital nevus
* Battaglia Neri syndrome
* Batten disease
* Batten disease - See Neuronal ceroid lipofuscinoses
* Batten Turner congenital myopathy - See Myopathy congenital
* Baughman syndrome - See CHAND syndrome
* Bazex syndrome - See Bazex-Dupre-Christol syndrome
* Bazex-Dupre-Christol syndrome
* Bazopoulou-Kyrkanidou syndrome
* BBB syndrome - See Opitz G/BBB syndrome
* BBGD - See Basal ganglia disease, biotin-responsive
* BBS - See Bardet-Biedl syndrome
* BBS1 - See Bardet-Biedl syndrome 1
* BBS10 - See Bardet-Biedl syndrome 10
* BBS11 - See Bardet-Biedl syndrome 11
* BBS12 - See Bardet-Biedl syndrome 12
* BBS2 - See Bardet-Biedl syndrome 2
* BCD - See Bietti crystalline corneoretinal dystrophy
* BCD syndrome - See Ectropion inferior cleft lip and or palate
* B-cell lymphomas
* BCIE - See Epidermolytic hyperkeratosis
* BCKD deficiency - See Maple syrup urine disease
* BCM - See Blue cone monochromatism
* BCPM - See Hailey-Hailey disease
* BD - See Behcet's disease
* Bd syndrome
* BDA1 - See Brachydactyly type A1
* BDA2 - See Brachydactyly type A2
* BDA3 - See Brachydactyly type A3
* BDA4 - See Brachydactyly type A4
* BDA6 - See Brachydactyly type A6
* BDC - See Brachydactyly type C
* BDCS - See Bazex-Dupre-Christol syndrome
* BDMF - See Diaphyseal medullary stenosis with malignant fibrous histiocytoma
* BDS - See Diamond-Blackfan anemia
* Beals syndrome - See Congenital contractural arachnodactyly
* Beals-Hecht syndrome - See Congenital contractural arachnodactyly
* Bean syndrome - See Blue rubber bleb nevus syndrome
* Beardwell syndrome
* Beare stevenson syndrome - See Cutis Gyrata syndrome of Beare and Stevenson
* Beare-Stevenson Cutis Gyrata syndrome - See Cutis Gyrata syndrome of Beare and Stevenson
* BEB - See Blepharospasm
* Becker disease - See Myotonia congenita autosomal recessive
* Becker melanosis - See Becker's nevus
* Becker muscular dystrophy
* Becker naevus - See Becker's nevus
* Becker nevus - See Becker's nevus
* Becker nevus syndrome
* Becker's disease - See Myotonia congenita autosomal recessive
* Becker's muscular dystrophy - See Becker muscular dystrophy
* Becker's nevus
* Beckwith-Wiedemann syndrome
* Bednar's tumor
* Bedouin spastic ataxia syndrome - See Mousa Al din Al Nassar syndrome
* Beemer Ertbruggen syndrome
* Beemer Langer syndrome - See Short rib-polydactyly syndrome type 4
* Beemer lethal malformation syndrome - See Beemer Ertbruggen syndrome
* Begeer syndrome - See Cataract ataxia deafness
* Behcet disease - See Behcet's disease
* Behcet syndrome - See Behcet's disease
* Behcet's disease
* Behcet's syndrome - See Behcet's disease
* Behr syndrome
* Behrens Baumann Dust syndrome - See Oculo-cerebral dysplasia
* Behrens-Baumann-Vogel syndrome - See Oculo-cerebral dysplasia
* Bejel
* Belgian type mental retardation syndrome - See Mental retardation syndrome, Belgian type
* Bell palsy - See Bell's palsy
* Bellini Chiumello Rimoldi syndrome - See Metaphyseal acroscyphodysplasia
* Bellini syndrome - See Metaphyseal acroscyphodysplasia
* Bell's palsy
* Bell-shaped thorax owing to short ribs, short-limbed dwarfism, pelvic hypoplasia, dislocatable radial heads, elongated distal fibulas, and improvement - See Thoraco limb dysplasia Rivera type
* BEN - See Balkan endemic nephropathy
* Ben Ari Shuper Mimouni syndrome
* Benallegue Lacete syndrome
* Bencze syndrome - See Hemifacial hyperplasia strabismus
* Benedict Augustin Morel's ear - See Morel's ear
* Benign angiitis of the central nervous system
* Benign autosomal dominant myopathy
* Benign chronic pemphigus - See Hailey-Hailey disease
* Benign chronic T-cell infiltrative disorder - See Lymphocytic infiltrate of Jessner
* Benign cystic peritoneal mesothelioma - See Benign multicystic peritoneal mesothelioma
* Benign eccrine spiradenoma
* Benign epilepsy of childhood with centrotemporal spikes (BECCT) - See Benign rolandic epilepsy (BRE)
* Benign epilepsy with centro-temporal spikes (BECTS) - See Benign rolandic epilepsy (BRE)
* Benign Essential Blepharospasm - See Blepharospasm
*   Benign essential hematuria - See Thin basement membrane nephropathy
*   Benign essential tremor - See Essential tremor
*   Benign familial hematuria - See Thin basement membrane nephropathy
* Benign familial infantile convulsions - See Benign familial neonatal-infantile seizures
* Benign familial infantile convulsions syndrome - See Convulsions, benign familial infantile, 1
* Benign familial infantile epilepsy
* Benign familial macrocephaly - See Macrocephaly, benign familial
* Benign familial megalencephaly - See Macrocephaly, benign familial
* Benign familial neonatal convulsions - See Convulsions benign familial neonatal dominant form
* Benign familial neonatal seizures - See Convulsions benign familial neonatal dominant form
* Benign familial neonatal-infantile seizures
* Benign familial pemphigus - See Hailey-Hailey disease
* Benign hereditary chorea
*   Benign hereditary nephritis - See Thin basement membrane nephropathy
* Benign hyperphenylalaninemia
* Benign idiopathic dystonia with onset in the first year of life - See Torsion dystonia with onset in infancy
* Benign infantile familial convulsions - See Convulsions, benign familial infantile, 1
* Benign lymphocytic infiltration - See Lymphocytic infiltrate of Jessner
* Benign mesenchymal melanoma - See Tièche-Jadassohn nevus
* Benign metastasizing leiomyoma
* Benign migratory glossitis - See Geographic tongue
* Benign mucosal pemphigoid - See Cicatricial pemphigoid
* Benign mucous membrance pemphigoid - See Cicatricial pemphigoid
* Benign multicystic peritoneal mesothelioma
* Benign muscular dystrophy with hypergonadotrophic hypogonadism and congenital cataract - See Bassoe syndrome
* Benign occipital epilepsy - See Epilepsy, benign occipital
* Benign paroxysmal peritonitis - See Familial Mediterranean fever
* Benign paroxysmal positional vertigo
* Benign Pemphigus - See Bullous pemphigoid
* Benign pseudohypertrophic muscular dystrophy - See Becker muscular dystrophy
* Benign recurrent aseptic meningitis - See Mollaret meningitis
* Benign recurrent intrahepatic cholestasis 1
* Benign recurrent intrahepatic cholestasis 2
* Benign rolandic epilepsy (BRE)
* Benign rolandic epilepsy of childhood (BREC) - See Benign rolandic epilepsy (BRE)
* Benign symmetrical lipomatosis - See Madelung disease
* Benign thunderclap headache - See Thunderclap headache
* Bent bone dysplasia (BBD)-FGFR2 type - See Bent bone dysplasia syndrome
* Bent bone dysplasia syndrome
* Bent spine - See Camptocormism
* Bent Spine Syndrome - See Camptocormism
* Berardinelli Seip congenital lipodystrophy type 2 - See Congenital generalized lipodystrophy type 2
* Berardinelli syndrome - See Congenital generalized lipodystrophy type 2
* Berardinelli-Seip congenital lipodystrophy type 1 - See Congenital generalized lipodystrophy type 1
* Berardinelli-Seip congenital lipodystrophy, type 4, with muscular dystrophy - See Congenital generalized lipodystrophy type 4
* Berdon syndrome - See Megacystis microcolon intestinal hypoperistalsis syndrome
* Berger disease
* Berger's disease - See Berger disease
* Beriberi
* Berk-Tabatznik syndrome
* Berlin Breakage syndrome - See Nijmegen breakage syndrome
* Berman syndrome - See Mucolipidosis type 4
* Bernard-Horner Syndrome - See Horner's syndrome
* Bernard-Soulier syndrome - See Giant platelet syndrome
* Bernhardt-Roth syndrome - See Meralgia paresthetica
* Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification
* Berylliosis
* Best disease - See Best vitelliform macular dystrophy
* Best macular dystrophy - See Best vitelliform macular dystrophy
* Best vitelliform macular dystrophy
* Best1 retinopathy
* Beta galactosidase deficiency type 1 - See GM1 gangliosidosis type 1
* Beta galactosidase 1 deficiency - See GM1 gangliosidosis
* Beta ketothiolase deficiency
* Beta thalassemia intermedia - See Beta-thalassemia
* Beta thalassemia major - See Beta-thalassemia
* Beta thalassemia minor - See Beta-thalassemia
* Beta-2-microglobulin amyloidosis - See Amyloidosis Beta2M
* Beta-galactosidase deficiency type 3 - See GM1 gangliosidosis type 3
* Beta-galactosidase-1 deficiency
* Beta-galactosidosis - See GM1 gangliosidosis
* Beta-glucuronidase deficiency - See Mucopolysaccharidosis type VII
* Beta-hexosaminidase-beta-subunit deficiency - See Sandhoff disease
* Betalipoprotein deficiency disease - See Abetalipoproteinemia
* Beta-mannosidase deficiency - See Mannosidosis, beta A, lysosomal
* Beta-mannosidosis - See Mannosidosis, beta A, lysosomal
* Beta-sarcoglycan limb-girdle muscular dystrophy - See Limb-girdle muscular dystrophy type 2E
* Beta-sarcoglycanopathy
* Beta-thalassemia
* Bethlem myopathy
* Beukes familial hip dysplasia
* BFHD - See Beukes familial hip dysplasia
* BFIC - See Convulsions, benign familial infantile, 1
* BFIC1 - See Convulsions, benign familial infantile, 1
* BFIS1 - See Convulsions, benign familial infantile, 1
* BFLS - See Borjeson-Forssman-Lehmann syndrome
* BFNC/Myokymia syndrome - See Myokymia with neonatal epilepsy
* BFNIS - See Benign familial neonatal-infantile seizures
* BFPP - See Bilateral frontoparietal polymicrogyria
* BGMR - See Parkinsonism, early onset with mental retardation
* BGS - See Baller-Gerold syndrome
* BH4 deficiency - See Tetrahydrobiopterin deficiency
* Bhaskar Jagannathan syndrome
* BHD - See Birt-Hogg-Dube syndrome
* BHD syndrome - See Birt-Hogg-Dube syndrome
* BHDS - See Bobble-head doll syndrome
* Bicarbonate-wasting RTA - See Renal tubular acidosis, distal, type 3
* Bickerstaff migraine - See Basilar migraine
* Bidirectional tachycardia
* Bidirectional tachycardia induced by catecholamine - See Catecholaminergic polymorphic ventricular tachycardia
* Bidirectional ventricular tachycardia - See Bidirectional tachycardia
* BIE - See Epidermolytic hyperkeratosis
* Biedl-Bardet Syndrome - See Bardet-Biedl syndrome
* Biemond ataxia - See Posterior column ataxia
* Biemond syndrome
* Biemond syndrome 2
* Biemond syndrome type 1
* Bietti crystalline corneoretinal dystrophy
* Bietti tapetoretinal degeneration with marginal corneal dystrophy - See Bietti crystalline corneoretinal dystrophy
* Bifid cranium - See Encephalocele
* Bifid nose
* Bifid nose with or without anorectal and renal anomalies
* Bifid tongue - See Cleft tongue
* Bifurcation of distal humerus with oligoectro-syndactyly - See Gollop Coates syndrome
* Bilateral absence of the tibia - See Absence of Tibia
* Bilateral acoustic neurofibromatosis - See Neurofibromatosis type 2
* Bilateral acoustic neurofibromatosis neurinoma - See BANF acoustic neurinoma
* Bilateral anophthalmia, esophageal atresia, and right cryptorchidism - See Arroyo Garcia Cimadevilla syndrome
* Bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele - See Brachial amelia, forebrain defects and facial clefts
* Bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy - See Spastic paraplegia 9
* Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance - See Burn-Mckeown syndrome
* Bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch - See Cryptomicrotia brachydactyly syndrome
* Bilateral frontal polymicrogyria
* Bilateral frontoparietal polymicrogyria
* Bilateral generalised polymicrogyria - See Bilateral generalized polymicrogyria
* Bilateral generalized polymicrogyria
* Bilateral Kienbock's disease - See Kienbock's disease
* Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma - See Ghose Sachdev Kumar syndrome
* Bilateral occipital calcifications with epilepsy - See Epilepsy occipital calcifications
* Bilateral parasagittal parieto-occipital polymicrogyria
* Bilateral perisylvian polymicrogyria
* Bilateral periventricular nodular heterotopia - See X-linked periventricular heterotopia
* Bilateral radial aplasia with Wilms tumor - See Wilms tumor and radial bilateral aplasia
* Bilateral radial defects club foot deformity micrognathia and cleft palate - See Radial defect Robin sequence
* Bilateral renal agenesis - See Urogenital adysplasia, hereditary
* Bilateral renal agenesis dominant type
* Bilateral right-sidedness sequence - See Ivemark syndrome
* Bilateral sensorineural hearing loss, enamel hypoplasia and nail defects - See Deafness enamel hypoplasia nail defects
* Bilateral striopallidodentate calcinosis - See Familial idiopathic basal ganglia calcification
* Bilateral striopallidodentate calcinosis childhood-onset - See Idiopathic basal ganglia calcification childhood-onset
* Bilateral temporal lobe disorder - See Kluver Bucy syndrome
* Bilateral trigger thumb (type) - See Trigger thumb
* Bilateral ulnar hypoplasia and mental retardation - See Ulna hypoplasia with mental retardation
* Bilateral Wilms tumor - See Wilms' tumor
* Bilateral, annular limbal dermoids with corneal and conjunctival extension - See Ring dermoid of cornea
* Bile acid synthesis defect, congenital, 1
* Bile acid synthesis defect, congenital, 2
* Bile acid synthesis defect, congenital, 4
* Bile duct cancer
* Bile duct cancer - See Intrahepatic cholangiocarcinoma
* Bile duct cysts
* Bilginturan syndrome - See Brachydactyly with hypertension
* Bilharzia - See Schistosomiasis
* Biliary atresia
* Biliary atresia extrahepatic
* Biliary atresia intrahepatic non syndromic form
* Biliary atresia intrahepatic syndromic form
* Biliary hypoplasia
* Biliary malformation with renal tubular insufficiency - See Lutz Richner Landolt syndrome
* Biliary tract cancer
* Biliary tract malformation with renal failure - See Lutz Richner Landolt syndrome
* Bilirubin encephalopathy - See Kernicterus
* Bilirubin induced brain injury in the newborn
* Billet Bear syndrome
* Binder syndrome - See Maxillonasal dysplasia, Binder type
* Bindewald Ulmer Muller syndrome - See Fallot complex with severe mental and growth retardation
* Binswanger's disease
* Biodefective growth hormone - See Kowarski syndrome
* Biotin deficiency - See Biotinidase deficiency
* Biotinidase deficiency
* Biotin-responsive basal ganglia disease - See Basal ganglia disease, biotin-responsive
* Biphenotypic acute leukemia - See Acute biphenotypic leukemia
*   Bipolar affective disorder - See Bipolar disorder
*   Bipolar disorder
*   Bipolar illness - See Bipolar disorder
* Bird headed dwarfism Montreal type
* Bird-headed dwarfism - See Seckel syndrome
* Bird-headed dwarfism microcephaly micrognathia - See Seckel like syndrome Majoor-Krakauer type
* Bird-headed dwarfism with features of premature senility - See Bird headed dwarfism Montreal type
* Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency
* Birdshot chorioretinopathy
* Birk Barel mental retardation dysmorphism syndrome
* Birk-Barel syndrome - See Birk Barel mental retardation dysmorphism syndrome
* Birt Hogg Dube syndrome - See Birt-Hogg-Dube syndrome
* Birt-Hogg-Dube syndrome
* Bitemporal aplasia cutis congenita - See Focal facial dermal dysplasia
* Bitemporal forceps marks syndrome - See Facial ectodermal dysplasia
* Bixler Christian Gorlin syndrome
* Bjornstad syndrome
* BJS - See Bjornstad syndrome
*   B-K mole syndrome - See Atypical mole syndrome
* BK virus nephropathy - See BK-virus nephropathy
* BKN - See BK-virus nephropathy
* BK-virus nephropathy
* BL - See Burkitt lymphoma
* Black Baine - See Anthrax
* Black lung disease - See Coal worker's pneumoconiosis
* Blackfan Diamond syndrome - See Diamond-Blackfan anemia
* Bladder cancer childhood - See Bladder cancer, childhood
* Bladder cancer, childhood
* Bladder carcinoma, childhood - See Bladder cancer, childhood
* Bladder exstrophy - See Exstrophy of the bladder
* Blaichman syndrome
* Blaschkoid lichen planus - See Linear lichen planus
* Blaschkoid LP - See Linear lichen planus
* Blastic plasmacytoid dendritic cell
* Blastic plasmacytoid dendritic cell neoplasm - See Blastic plasmacytoid dendritic cell
* Blastoma
* Blastomycosis
* Blau syndrome
* Bleeding disorder due to primary defects in platelet release mechanism - See Primary release disorder of platelets
* Blepharo naso facial syndrome Van maldergem type
* Blepharocheilodontic syndrome - See Ectropion inferior cleft lip and or palate
* Blepharo-cheilo-dontic syndrome - See Ectropion inferior cleft lip and or palate
* Blepharofacioskeletal syndrome
* Blepharonasofacial malformation syndrome
* Blepharophimosis
* Blepharophimosis - ptosis - esotropia - syndactyly - short stature - See Blepharophimosis with ptosis, syndactyly, and short stature
* Blepharophimosis intellectual disability syndromes
* Blepharophimosis mental retardation syndromes - See Blepharophimosis intellectual disability syndromes
* Blepharophimosis radioulnar synostosis - See Jorgenson Lenz syndrome
* Blepharophimosis syndrome Ohdo type - See Blepharophimosis intellectual disability syndromes
* Blepharophimosis syndrome type 1 - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
* Blepharophimosis syndrome type 2 - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
* Blepharophimosis with ptosis, syndactyly, and short stature
* Blepharophimosis, arachnodactyly, and congenital contractures - See Marden Walker like syndrome
* Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
* Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
* Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
* Blepharophimosis, ptosis, epicanthus inversus with ovarian failure - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
* Blepharoptosis myopia ectopia lentis
* Blepharospasm
* BLM - See Bloom syndrome
* Bloch-Sulzberger syndrome - See Incontinentia pigmenti
* Blomstrand lethal osteochondrodysplasia - See Chondrodysplasia Blomstrand type
* Blomstrand's lethal chondrodysplasia - See Chondrodysplasia Blomstrand type
* Blood fluke - See Schistosomiasis
* Bloom syndrome
* Bloom-Torre-Machacek syndrome - See Bloom syndrome
* Blount disease
* Blount-Barber syndrome - See Blount disease
* Blount's disease - See Blount disease
* BLS - See Bloom syndrome
* BLS 2 - See Bare lymphocyte syndrome 2
* BLS type 1 - See Bare lymphocyte syndrome
* Blue cone monochromatism
* Blue diaper syndrome
* Blue neuronevus - See Tièche-Jadassohn nevus
* Blue nevus - See Tièche-Jadassohn nevus
* Blue rubber bleb nevus - See Blue rubber bleb nevus syndrome
* Blue rubber bleb nevus syndrome
*   BMFS - See Inherited bone marrow failure syndromes
* BMPM - See Benign multicystic peritoneal mesothelioma
* BMRS - See Blepharophimosis intellectual disability syndromes
*   BMS - See Burning mouth syndrome
* BMS-3 - See Burning mouth syndrome type 3
* BNAR syndrome - See Bifid nose with or without anorectal and renal anomalies
* BO syndrome 1 - See Branchiootic syndrome
* Bobble head doll syndrome - See Bobble-head doll syndrome
* Bobble-head doll syndrome
* BOCD - See Chondrodysplasia Blomstrand type
* BOD syndrome
* Boder syndrome - See Odontoma dysphagia syndrome
* Body stalk anomaly - See Limb-body wall complex
* BOE - See Epilepsy, benign occipital
* Boerhaave syndrome
* Boerhaave's syndrome - See Boerhaave syndrome
* Boerhave syndrome - See Boerhaave syndrome
* BOFS syndrome - See Branchiooculofacial syndrome
* Bohring syndrome - See C-like syndrome
* Bohring-Opitz syndrome - See C-like syndrome
* Bone cancer
* Bone dysplasia Azouz type
* Bone dysplasia corpus callosum agenesis
* Bone dysplasia lethal Holmgren type
* Bone dysplasia Moore type
* Bone dysplasia with malignant fibrous histiocytoma - See Diaphyseal medullary stenosis with malignant fibrous histiocytoma
* Bone dysplasia with medullary fibrosarcoma - See Diaphyseal medullary stenosis with malignant fibrous histiocytoma
* Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features - See Cole Carpenter syndrome
*   Bone marrow necrosis
* Bonneau-Beaumont syndrome - See Hyperferritinemia cataract syndrome
* Bonneman Meinecke Reich syndrome - See Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration
* Bonnemann Meinecke syndrome - See Porencephaly cerebellar hypoplasia internal malformations
* Bonnet-Decaume-Blanc syndrome - See Wyburn Mason's syndrome
* Bonnevie-Ulrich syndrome - See Turner syndrome
* Book syndrome
* Boomerang dysplasia
* Boomerang-like skeletal dysplasia - See Boomerang dysplasia
* BOOP - See Bronchiolitis obliterans organizing pneumonia
* BOR syndrome - See Branchiootorenal syndrome
* Bordetella pertussis infection - See Whooping cough
* BOR-Duane hydrocephalus contiguous gene syndrome
* BORJ - See Borjeson-Forssman-Lehmann syndrome
* Borjeson Syndrome - See Borjeson-Forssman-Lehmann syndrome
* Borjeson-Forssman-Lehmann syndrome
* Bork Stender Schmidt syndrome
* Bork syndrome - See Bork Stender Schmidt syndrome
* Borrone dermatocardioskeletal syndrome - See Borrone Di Rocco Crovato syndrome
* Borrone Di Rocco Crovato syndrome
* BOS - See Buschke Ollendorff syndrome
* BOS syndrome - See C-like syndrome
* BOS1 - See Branchiootic syndrome
* Bosley Salih Alorainy syndrome - See Athabaskan brainstem dysgenesis
* Bosma arhinia microphthalmia syndrome - See Arhinia choanal atresia microphthalmia
* Bosma Henkin Christiansen syndrome - See Arhinia choanal atresia microphthalmia
* Bothriocephalosis
* Botryoid rhabdomyosarcoma (type of ERMS) - See Rhabdomyosarcoma embryonal
* Botulism
* Boucher Neuhauser syndrome
* Boudhina Yedes Khiari syndrome
* Bourneville syndrome
* Bourneville's syndrome - See Bourneville syndrome
* Bouwes Bavinck Weaver Ellis syndrome - See Mental retardation short stature microcephaly eye
* Bow hunter's stroke
* Bow hunter's syndrome - See Bow hunter's stroke
* Bowed tibiae, radial anomalies, osteopenia, multiple fractures and developmental delay - See Chitty Hall Webb syndrome
* Bowen Hutterite syndrome (formerly) - See Bowen-Conradi syndrome
* Bowen syndrome
* Bowen syndrome of multiple malformations - See Bowen syndrome
* Bowen-Conradi Hutterite syndrome - See Bowen-Conradi syndrome
* Bowen-Conradi syndrome
* Bowenoid papulosis
* Bowen's disease
* Bowing of legs, anterior with dwarfism
* Bowing of long bones congenital
* Bowing of the femurs, aplasia or hypoplasia of the fibula, and digital anomalies - See Fuhrmann syndrome
* Bowing, congenital, with short bones - See Kyphomelic dysplasia
* Boylan Dew Greco syndrome
* BP - See Bowenoid papulosis
* BPD - See Bronchopulmonary dysplasia
* BPDCN - See Blastic plasmacytoid dendritic cell
* BPES type 1 - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
* BPES type 2 - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
* BPES with premature ovarian failure - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1
* BPES without premature ovarian failure - See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2
* BPNH - See X-linked periventricular heterotopia
* BPPV - See Benign paroxysmal positional vertigo
* BPS - See Popliteal pterygium syndrome lethal type
* BRA - See Urogenital adysplasia, hereditary
* Brachial amelia, forebrain defects and facial clefts
* Brachial plexus neuropathy, hereditary - See Hereditary neuralgic amyotrophy
* Brachioskeletogenital syndrome
* Brachmann de Lange syndrome - See Cornelia de Lange syndrome
* Brachycephalofrontonasal dysplasia
* Brachycephaly, deafness, cataract and mental retardation - See Fine-Lubinsky syndrome
* Brachydactylous dwarfism Mseleni type
* Brachydactylous dwarfs of Mseleni - See Brachydactylous dwarfism Mseleni type
*   Brachydactyly
* Brachydactyly - mesomelia - intellectual deficit - heart defects - See Stratton-Garcia-Young syndrome
* Brachydactyly absence of distal phalanges
* Brachydactyly and intraventricular conduction defect - See Heart-hand syndrome,Spanish type
* Brachydactyly anonychia
* Brachydactyly Ballard type - See Brachydactyly types B and E combined
* Brachydactyly combined B and E types - See Brachydactyly types B and E combined
* Brachydactyly dwarfism mental retardation
* Brachydactyly elbow wrist dysplasia
* Brachydactyly Farabee type - See Brachydactyly type A1
* Brachydactyly Haws type - See Brachydactyly type C
* Brachydactyly long thumb type
* Brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face - See Stratton-Garcia-Young syndrome
* Brachydactyly mesomelia mental retardation heart defects
* Brachydactyly Mononen type
* Brachydactyly of the hands and feet with duplication of the first toes - See Sugarman brachydactyly
* Brachydactyly preaxial with hallux varus and thumb abduction
* Brachydactyly small stature face anomalies
* Brachydactyly Smorgasbord type - See Brachydactyly type A7
* Brachydactyly Temtamy type - See Brachydactyly type A4
* Brachydactyly tibial hypoplasia
* Brachydactyly type A1
* Brachydactyly type A2
* Brachydactyly type A3
* Brachydactyly type A4
* Brachydactyly type A5
* Brachydactyly type A5 nail dysplasia - See Brachydactyly type A5
* Brachydactyly type A6
* Brachydactyly type A7
* Brachydactyly type B
* Brachydactyly type C
* Brachydactyly type E
* Brachydactyly type E with short stature and hypertension - See Brachydactyly with hypertension
* Brachydactyly types B and E combined
* Brachydactyly with absence of middle phalanges and hypoplastic nails - See Brachydactyly type A5
* Brachydactyly with hypertension
* Brachydactyly with major proximal phalangeal shortening - See Sugarman brachydactyly
* Brachydactyly, absent pectoral muscles and agenesis/hypoplasia of kidneys - See Acro-pectoro-renal field defect
* Brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature and abnormal clavicle - See Cleidorhizomelic syndrome
* Brachydactyly, nystagmus and cerebellar ataxia - See Biemond syndrome
* Brachydactyly, scoliosis, spina bifida occulta, and carpal synostosis - See Prata Libéral Gonçalves syndrome
* Brachydactyly-clinodactyly - See Brachydactyly type A3
* Brachydactyly-distal symphalangism syndrome - See Sillence syndrome
* Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia - See Fibular aplasia ectrodactyly
* Brachydactyly-Mental Retardation syndrome - See 2q37 deletion syndrome
* Brachymelic primordial dwarfism - See Microcephalic osteodysplastic primordial dwarfism type 1
* Brachymesomelia renal syndrome
* Brachymesomelia-renal syndrome - See Langer Nishino Yamaguchi syndrome
* Brachymesophalangy 2 - See Brachydactyly type A2
* Brachymesophalangy 5 - See Brachydactyly type A3
* Brachymesophalangy II and V - See Brachydactyly type A4
* Brachymesophalangy type 2
* Brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities - See Brachydactyly type A6
* Brachymetapody anodontia hypotrichosis albinoidism
* Brachymorphism onychodysplasia dysphalangism syndrome - See BOD syndrome
* Brachymorphism-onychodysplasia-dysphalangism syndrome - See BOD syndrome
* Brachyolmia
* Brachyolmia autosomal dominant - See Brachyolmia type 3
* Brachyolmia Maroteaux type - See Spondyloepiphyseal dysplasia Maroteaux type
* Brachyolmia recessive type of Hobaek - See Brachyolmia type 1 Hobaek type
* Brachyolmia type 1 Hobaek type
* Brachyolmia type 1, Toledo type - See Spondyloepiphyseal dysplasia tarda Toledo type
* Brachyolmia type 2 - See Spondyloepiphyseal dysplasia Maroteaux type
* Brachyolmia type 3
* Brachyphalangy, polydactyly and absent tibiae - See Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
* Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
* Brachyrachia - See Brachyolmia type 3
* Bradbury Eggleston syndrome - See Pure autonomic failure
* Bradbury-Eggleston syndrome - See Pure autonomic failure
* Braddock Carey syndrome - See Thrombocytopenia Robin sequence
* Braddock Jones Superneau syndrome
* Brain lung thyroid syndrome
* Brain stem cancer
* Brain stem glioma, childhood
* Brain tumor, adult
* Brain tumor, childhood
* Brain tumor-polyposis syndrome - See Turcot syndrome
* Brain-bone-fat disease - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
* Brain-lung-thyroid syndrome - See Brain lung thyroid syndrome
*   Brainstem auditory evoked responses
* Brainstem migraine - See Basilar migraine
* Branched chain ketoaciduria - See Maple syrup urine disease
* Branched-chain alpha-keto acid dehydrogenase deficiency - See Maple syrup urine disease
* Brancher deficiency - See Glycogen storage disease type 4
* Branchial arch defects
* Branchial arch syndrome X-linked
* Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging - See Branchiooculofacial syndrome
* Branchial dysplasia clubfoot inguinal hernia and biliary atresia - See Lambert syndrome
* Branchio oculo facial syndrome Hing type - See Oculootofacial dysplasia
* Branchio oto renal syndrome - See Branchiootorenal syndrome
* Branchiooculofacial syndrome
* Branchiootic dysplasia - See Branchiootic syndrome
* Branchiootic syndrome
* Branchio-Oto-Renal Duane hydrocephalus contiguous gene syndrome - See BOR-Duane hydrocephalus contiguous gene syndrome
* Branchiootorenal dysplasia - See Branchiootorenal syndrome
* Branchiootorenal syndrome
* Brandt syndrome - See Acrodermatitis enteropathica
* Brandywine type dentinogenesis imperfecta - See Dentinogenesis imperfecta Shields type 3
* Brauer syndrome - See Focal facial dermal dysplasia
* Brazilian achondrogenesis - See Chondrodysplasia, Grebe type
* Brazilian pemphigus - See Pemphigus and fogo selvagem
* Brazilian pemphigus foliaceus - See Pemphigus and fogo selvagem
* BRBNS - See Blue rubber bleb nevus syndrome
* Breast angiosarcoma - See Angiosarcoma of the breast
* Breast cancer in men - See Breast cancer, male
* Breast cancer, childhood
*   Breast cancer, familial - See Familial breast cancer
* Breast cancer, inflammatory - See Inflammatory breast cancer
* Breast cancer, male
* Brenner tumor of ovary
* Brenner tumor of the vagina
* BRIC1 - See Benign recurrent intrahepatic cholestasis 1
* BRIC2 - See Benign recurrent intrahepatic cholestasis 2
* Brill-Zinsser disease - See Typhus
* Brittle bone disease - See Osteogenesis imperfecta
* Brittle bone syndrome lethal type
* Brittle cornea syndrome
* Brittle diabetes
* Brittle diabetes mellitus - See Brittle diabetes
* Brittle hair and mental deficit - See Sabinas brittle hair syndrome
* Brittle type 1 diabetes - See Brittle diabetes
* BRKS1 - See Bruck syndrome 1
* BRKS2 - See Bruck syndrome 2
* Broad beta disease - See Hyperlipidemia type 3
* Broad gyri of cerebrum - See Pachygyria
* Broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic beaked noses - See Rubinstein Taybi like syndrome
* Broad thumb-hallux syndrome - See Rubinstein-Taybi syndrome
* Broad thumbs and great toes, characteristic facies, and mental retardation - See Rubinstein-Taybi syndrome
* Broad-betalipoproteinemia - See Hyperlipidemia type 3
* Brocq pseudopelade - See Pseudopelade of Brocq
* Brocq-Duhring disease - See Duhring Brocq disease
* Brodie Chole Griffin syndrome - See Macrothrombocytopenia progressive deafness
* Brody disease - See Brody myopathy
* Brody myopathy
* Broken-heart syndrome - See Stress cardiomyopathy
* Bronchial adenomas/carcinoids childhood
* Bronchial carcinoids - See Bronchial adenomas/carcinoids childhood
* Bronchiectasis oligospermia
* Bronchiolitis obliterans
* Bronchiolitis obliterans organizing pneumonia
* Bronchogenic cyst
* Bronchopulmonary dysplasia
* Brooke-Fordyce trichoepitheliomas - See Multiple familial trichoepithelioma
* Brooke-Spiegler syndrome
* Brooks Wisniewski Brown syndrome
* Brown syndrome
* Brown-Sequard syndrome
* Brown-Vialetto-Van Laere syndrome
* BRRS - See Bannayan-Riley-Ruvalcaba syndrome
* BRSS - See Brooke-Spiegler syndrome
* Bruce Winship syndrome - See Radial defect Robin sequence
* Brucellosis
* Bruck syndrome 1
* Bruck syndrome 2
* Brugada syndrome
* Brugada syndrome 3
* Brugada syndrome 4
* Brunner-Winter syndrome - See Feingold syndrome
* Brunoni syndrome
* Brunsting Perry syndrome - See Brunsting-Perry syndrome
* Brunsting-Perry syndrome
* Brunzell syndrome - See Congenital generalized lipodystrophy type 2
* Brunzell syndrome, AGPAT2-related - See Congenital generalized lipodystrophy type 1
* Bruton type agammaglobulinemia - See X-linked agammaglobulinemia
* Bruton's agammaglobulinemia - See X-linked agammaglobulinemia
* Bruyn Scheltens syndrome
* BRWS - See Baraitser-Winter syndrome
* BS - See Bloom syndrome
* BS2 - See Biemond syndrome 2
* BSAS - See Athabaskan brainstem dysgenesis
* BSCL1 - See Congenital generalized lipodystrophy type 1
* BSCR - See Birdshot chorioretinopathy
* BSG syndrome - See Brachioskeletogenital syndrome
* BSND - See Bartter syndrome type 4
* BSPDC - See Familial idiopathic basal ganglia calcification
* BSS - See Giant platelet syndrome
* BTD deficiency - See Biotinidase deficiency
* BTHS - See Barth syndrome
* BTK-deficiency - See X-linked agammaglobulinemia
* Bubble boy disease - See Severe combined immunodeficiency
* Bubonic plague
* BUD - See Buruli ulcer
* Budd-Chiari syndrome
* Buerger disease
* Buerger's disease - See Buerger disease
* Bulbar hereditary motor neuronopathy (HMN) type II - See Fazio Londe syndrome
* Bulbar HMN II - See Fazio Londe syndrome
* Bulbospinal muscular atrophy - See Kennedy disease
* Bull teeth - See Taurodontism
* Bulldog syndrome - See Simpson-Golabi-Behmel syndrome
* Bull-Nixon syndrome - See Primary basilar impression
* Bullous acrokeratotic poikiloderma of kindler and weary - See Kindler syndrome
* Bullous cellulitis with eosinophilia - See Wells syndrome
* Bullous congenital ichthyosiform erythroderma - See Epidermolytic hyperkeratosis
* Bullous dystrophy hereditary macular type
* Bullous erythroderma ichthyosiformis congenita of Brocq - See Epidermolytic hyperkeratosis
* Bullous ichthyosiform erythroderma - See Epidermolytic hyperkeratosis
* Bullous ichthyosiform erythroderma congenita - See Epidermolytic hyperkeratosis
* Bullous papular urticaria - type - See Papular urticaria
* Bullous pemphigoid
* Bullous type of ichthyosis - See Ichthyosis bullosa of Siemens
* Buntinx Lormans Martin syndrome - See Radioulnar synostosis retinal pigment abnormalities
* Burkholderia mallei - See Glanders
* Burkholderia mallei infection - See Glanders
* Burkholderia pseudomallei infection - See Meliodosis
* Burkitt lymphoma
* Burkitt's lymphoma - See Burkitt lymphoma
* Burn Goodship syndrome
* Burnett Schwartz Berberian syndrome
*   Burning mouth disorder - See Burning mouth syndrome
*   Burning mouth syndrome
* Burning mouth syndrome type 3
* Burn-Mckeown syndrome
* Burton syndrome - See Kniest-like dysplasia with pursed lips and ectopia lentis
* Buruli ulcer
* Buruli ulcer disease - See Buruli ulcer
* Buschke fischer brauer syndrome - See Keratosis palmoplantaris papulosa
* Buschke Lowenstein tumor
* Buschke Ollendorff syndrome
* Buschke's scleredema - See Scleredema
* Bustos Simosa Pinto Cisternas syndrome
* Butterfly dystrophy of retinal pigment epithelium - See Patterned dystrophy of retinal pigment epithelium
* Butterfly-shaped pigment dystrophy of the fovea - See Patterned dystrophy of retinal pigment epithelium
* Buttiens Fryns syndrome - See Limb deficiencies distal with micrognathia
* Butyrylcholinesterase deficiency - See Pseudocholinesterase deficiency
* BWCNS - See Bowen-Conradi syndrome
* Byler disease - See Cholestasis, progressive familial intrahepatic 1
* Byler's disease - See Cholestasis, progressive familial intrahepatic 1
* Byssinosis
* BZS - See Bannayan-Riley-Ruvalcaba syndrome
* BZX - See Bazex-Dupre-Christol syndrome