Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [B]

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• Bilginturan syndrome - See Brachydactyly with hypertension
• Bilharzia - See Schistosomiasis
• Biliary atresia
• Biliary atresia intrahepatic non syndromic form
• Biliary atresia intrahepatic syndromic form
• Biliary hypoplasia
• Biliary tract cancer
• Bilirubin encephalopathy - See Kernicterus
• Billet Bear syndrome
• Bimanual synergia - See Congenital mirror movement disorder
• Bimanual synkinesis - See Congenital mirror movement disorder
• 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 Biotin-thiamine-responsive basal ganglia disease
• Biotin-thiamine-responsive basal ganglia disease
• Biphenotypic acute leukemia - See Acute leukemia of ambiguous lineage
• Bipolar affective disorder - See Bipolar disorder - not a rare disease
• Bipolar disorder - not a rare disease
• Bipolar illness - See Bipolar disorder - not a rare disease
• 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 Microcephalic primordial dwarfism, Montreal type
• Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter and primary gonadal insufficiency - See Bangstad syndrome
• Birdshot chorioretinitis - See Birdshot chorioretinopathy
• Birdshot chorioretinopathy
• Birdshot retinochoroiditis - See Birdshot chorioretinopathy
• Birdshot retinochoroidopathy - See Birdshot chorioretinopathy
• Birk Barel mental retardation dysmorphism syndrome - See Birk-Barel syndrome
• Birk-Barel 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
• Bizzare parosteal osteochondromatous proliferation
• Bjornstad syndrome
• BJS - See Bjornstad syndrome
• B-K mole syndrome - See Familial atypical multiple mole melanoma syndrome - not a rare disease
• BK virus nephropathy - See BK-virus nephropathy
• BKN - See BK-virus nephropathy
• BK-virus nephropathy
• BL - See Burkitt lymphoma
• Black Baine - See Anthrax
• Black hairy tongue - not a rare disease
• Black lung disease - See Coal worker's pneumoconiosis
• Blackfan Diamond syndrome - See Diamond-Blackfan anemia
• Blackfan-Diamond anemia - See Diamond-Blackfan anemia
• Bladder cancer - not a rare disease
• Bladder exstrophy - See Exstrophy of the bladder
• Bladder exstrophy-epispadias-cloacal extrophy complex - See Exstrophy-epispadias complex
• Bladder pain syndrome - See Interstitial cystitis - not a rare disease
• Blaschkoid lichen planus - See Linear lichen planus
• Blaschkoid LP - See Linear lichen planus
• Blastic NK-cell lymphoma - See Blastic plasmacytoid dendritic cell
• Blastic plasmacytoid dendritic cell
• Blastic plasmacytoid dendritic cell neoplasm - See Blastic plasmacytoid dendritic cell
• Blastomycosis
• Blau syndrome
• BLC-PMG - See Congenital intrauterine infection-like syndrome
• BLCPMG - See Congenital intrauterine infection-like syndrome
• Bleeding diathesis due to a collagen receptor defect - See Glycoprotein VI deficiency
• Bleeding diathesis due to glycoprotein VI deficiency - See Glycoprotein VI deficiency
• Bleeding disorder due to ADP platelet receptor P2Y12 defect - See Bleeding disorder due to P2RY12 defect
• Bleeding disorder due to P2RX1 defect, somatic - See Bleeding disorder due to P2RY12 defect
• Bleeding disorder due to P2RY12 defect
• Bleeding disorder due to P2Y12 defect - See Bleeding disorder due to P2RY12 defect
• Bleeding disorder due to primary defects in platelet release mechanism - See Primary release disorder of platelets
• Bleeding disorder, platelet-type 8 - See Bleeding disorder due to P2RY12 defect
• Blepharo naso facial syndrome Van maldergem type
• Blepharochalasis - double lip - See Ascher Syndrome
• Blepharochalasis and double lip - See Ascher Syndrome
• Blepharochalasis-double lip syndrome - See Ascher Syndrome
• Blepharocheilodontic syndrome - See Ectropion inferior cleft lip and or palate
• Blepharo-cheilo-dontic syndrome - See Ectropion inferior cleft lip and or palate
• Blepharofacioskeletal syndrome - See Hypotelorism cleft palate hypospadias
• 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 types 1 and 2 - See Blepharophimosis-epicanthus inversus-ptosis syndrome
• Blepharophimosis with ptosis, syndactyly, and short stature
• Blepharophimosis, arachnodactyly, and congenital contractures - See Marden Walker like syndrome
• Blepharophimosis,epicanthus inversus, and ptosis 3 (formerly) - See Saethre-Chotzen syndrome
• Blepharophimosis-epicanthus inversus-ptosis syndrome
• Blepharophimosis-intellectual disability syndrome - See Blepharophimosis intellectual disability syndromes
• Blepharoptosis myopia ectopia lentis
• Blepharospasm - See Benign essential blepharospasm
• Blepharospasm - oromandibular dystonia - See Meige syndrome
• Blepharospasm-oromandibular dystonia - See Meige syndrome
• Blepharospasm-oromandibular dystonia syndrome - See Meige syndrome
• 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
• BLT syndrome - See Brain-lung-thyroid syndrome
• Blue baby syndrome - See Methemoglobinemia, beta-globin type
• 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 - not a rare disease
• BMPM - See Benign multicystic peritoneal mesothelioma
• BMRS - See Blepharophimosis intellectual disability syndromes
• BMS - See Burning mouth syndrome - not a rare disease
• 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
• Bockenheimer syndrome - See Genuine diffuse phlebectasia
• 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 Bohring-Opitz syndrome
• Bohring-Opitz syndrome
• 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 - not a rare disease
• Bonneau-Beaumont syndrome - See Hyperferritinemia cataract syndrome
• Bonnemann 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 syndrome
• Bonnevie-Ulrich syndrome - See Turner syndrome
• Book syndrome
• Boomerang dysplasia
• Boomerang-like skeletal dysplasia - See Boomerang dysplasia
• BOOP - See Bronchiolitis obliterans organizing pneumonia
• Booth-Haworth-Dilling syndrome - See Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
• 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
• Borreliosis - See Lyme disease - not a rare disease
• Borrone dermatocardioskeletal syndrome - See Borrone Di Rocco Crovato syndrome
• Borrone Di Rocco Crovato syndrome
• BOS - See Buschke Ollendorff syndrome
• BOS syndrome - See Bohring-Opitz 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-Neuhäuser syndrome - See Ataxia - hypogonadism - choroidal dystrophy
• Boudhina Yedes Khiari syndrome
• 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-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
• BPAN - See Beta-Propeller Protein-Associated Neurodegeneration
• BPD - See Bronchopulmonary dysplasia
• BPDCN - See Blastic plasmacytoid dendritic cell
• BPNH - See X-linked periventricular heterotopia
• BPOP - See Bizzare parosteal osteochondromatous proliferation
• BPPV - See Benign paroxysmal positional vertigo
• BPS - See Popliteal pterygium syndrome, Bartsocas-Papas type
• Brachial amelia, cleft lip, and forebrain defects - See Brachial amelia, cleft lip, and holoprosencephaly
• Brachial amelia, cleft lip, and holoprosencephaly
• 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 - not a rare disease
• Brachydactyly - nystagmus - cerebellar ataxia - See Biemond 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 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 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
• 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 joint dysplasia - See Brachydactyly elbow wrist dysplasia
• 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-clinodactyly - See Brachydactyly type A3
• Brachydactyly-distal symphalangism syndrome - See Sillence syndrome
• Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia - See Fibular aplasia ectrodactyly
• Brachydactyly-Intellectual disability syndrome - See 2q37 deletion syndrome
• Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
• Brachydactyly-nystagmus-cerebellar ataxia syndrome - See Biemond syndrome
• Brachydactyly-scoliosis-carpal fusion syndrome - See Acrodysplasia scoliosis
• 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 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
• Braddock-Jones-Superneau syndrome - See Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus
• Bradyopsia
• Bradyopsia - See Bradyopsia
• Brain dopamine-serotonin vesicular transport disease
• Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome - See ZTTK syndrome
• Brain stem cancer
• Brain tumor, adult
• Brain tumor, childhood
• BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL - See Rhabdoid tumor
• Brain tumor-polyposis syndrome - See Turcot syndrome
• Brain-bone-fat disease - See Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
• Brain-lung-thyroid syndrome
• Brainstem migraine - See Migraine with brainstem aura
• 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 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
• Branchioskeletogenital syndrome - See Brachioskeletogenital syndrome
• Branchio-skeleto-genital syndrome - See Brachioskeletogenital syndrome
• Brandt syndrome - See Acrodermatitis enteropathica
• Brandywine type dentinogenesis imperfecta - See Dentinogenesis imperfecta type 3
• Brauer syndrome - See Focal facial dermal dysplasia
• Brauer-Buschke-Fischer syndrome - See Punctate palmoplantar keratoderma type I
• 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
• BRCA1 hereditary breast and ovarian cancer syndrome
• BRCA2 hereditary breast and ovarian cancer syndrome
• Breast angiosarcoma - See Angiosarcoma of the breast
• Breast cancer in men - See Breast cancer, male
• Breast cancer, familial - See Familial breast cancer - not a rare disease
• Breast cancer, inflammatory - See Inflammatory breast cancer
• Breast cancer, male
• Brenner tumor of ovary
• Brenner tumor of the vagina
• Bri amyloidosis - See Dementia familial British
• BRIC - See Benign recurrent intrahepatic cholestasis
• BRIC1 - See Benign recurrent intrahepatic cholestasis 1
• BRIC2 - See Benign recurrent intrahepatic cholestasis 2
• Bright's disease - See Glomerulonephritis
• 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 Trichothiodystrophy
• 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 thumbs-halluces syndrome - See Rubinstein-Taybi syndrome
• Broad-betalipoproteinemia - See Hyperlipidemia type 3
• Brocq pseudopelade - See Pseudopelade of Brocq
• Brocq-Duhring disease - See Dermatitis herpetiformis
• Brodie Chole Griffin syndrome - See Macrothrombocytopenia progressive deafness
• Brody disease - See Brody myopathy
• Brody myopathy
• Broken heart syndrome
• Broken-heart syndrome - See Broken heart syndrome
• 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
• BROVCA1 - See BRCA1 hereditary breast and ovarian cancer syndrome
• BROVCA2 - See BRCA2 hereditary breast and ovarian cancer syndrome
• Brown syndrome
• Brown-Sequard syndrome
• Brown-Vialetto-van Laere syndrome - See Riboflavin transporter deficiency
• Brown-Vialetto-Van Laere syndrome 2
• 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
• Bruck syndrome-1 - See Kuskokwim disease
• Brueghel syndrome - See Meige syndrome
• Brugada syndrome
• Brugada syndrome 3
• Brugada syndrome 4
• Brunner syndrome - See Monoamine oxidase A deficiency
• Brunner-Winter syndrome - See Feingold syndrome
• Brunsting Perry syndrome - See Brunsting-Perry syndrome
• Brunsting-Perry syndrome
• Brunzell syndrome - See Congenital generalized lipodystrophy
• 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
• BSCL - See Congenital generalized lipodystrophy
• BSCL1 - See Congenital generalized lipodystrophy type 1
• BSCL2-Related Brunzell syndrome - See Congenital generalized lipodystrophy
• BSCR - See Birdshot chorioretinopathy
• BSG syndrome - See Brachioskeletogenital syndrome
• BSND - See Bartter syndrome type 4
• BSPDC - See Primary Familial Brain Calcification
• BSS - See Giant platelet syndrome
• BTD deficiency - See Biotinidase deficiency
• BTHS - See Barth syndrome
• BTK-deficiency - See X-linked agammaglobulinemia
• Bubonic plague
• BUD - See Buruli ulcer
• Budd-Chiari syndrome
• Buerger disease
• Buerger's disease - See Buerger disease
• 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 ichthyosis
• Bullous dystrophy hereditary macular type
• Bullous erythroderma ichthyosiformis congenita of Brocq - See Epidermolytic ichthyosis
• Bullous ichthyosiform erythroderma - See Epidermolytic ichthyosis
• Bullous ichthyosiform erythroderma congenita - See Epidermolytic ichthyosis
• Bullous papular urticaria - type - See Papular urticaria
• Bullous pemphigoid
• Bullous type of ichthyosis - See Ichthyosis bullosa of Siemens
• Burger-Grutz syndrome - See Familial lipoprotein lipase deficiency
• Burkholderia mallei - See Glanders
• Burkholderia mallei infection - See Glanders
• Burkholderia pseudomallei infection - See Melioidosis
• Burkitt lymphoma
• Burkitt's lymphoma - See Burkitt lymphoma
• Burn Goodship syndrome
• Burning mouth disorder - See Burning mouth syndrome - not a rare disease
• Burning mouth syndrome - not a rare disease
• Burn-McKeown syndrome - See Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
• Burton skeletal dysplasia - See Schwartz Jampel syndrome
• Burton syndrome - See Schwartz Jampel syndrome
• Burton syndrome - See Kniest-like dysplasia with pursed lips and ectopia lentis
• Buruli ulcer
• Buruli ulcer disease - See Buruli ulcer
• 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
• bvFTD - See Behavioral variant of frontotemporal dementia
• BVMD - See Best vitelliform macular dystrophy
• BVVLS - See Riboflavin transporter deficiency
• BWCNS - See Bowen-Conradi syndrome
• BXL4-Related Early-Onset Mitochondrial Encephalopathy - See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
• Byler disease - See Progressive familial intrahepatic cholestasis 1
• Byler's disease - See Progressive familial intrahepatic cholestasis 1
• Byssinosis
• BZS - See Bannayan-Riley-Ruvalcaba syndrome
• BZX - See Bazex-Dupre-Christol syndrome