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Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
- 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 cancer childhood - See Bladder cancer, childhood
- Bladder cancer, childhood
- Bladder carcinoma, childhood - See Bladder cancer, childhood
- 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 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
- Blepharophimosis,epicanthus inversus, and ptosis 3 (formerly) - See Saethre-Chotzen 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
- 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-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
- 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
- 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 holoprosencephaly
- 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 - 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 - SeeBrachydactyly-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 auditory evoked responses - not a rare disease
- 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 - SeeBranchiooculofacial 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, childhood
- 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-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
- 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 type 2
- 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
- Burnett Schwartz Berberian 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 Kniest-like dysplasia with pursed lips and ectopia lentis
- Burton syndrome - See Schwartz Jampel syndrome
- 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
- 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
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