Genetic diseases-B

• B variant GM2 gangliosidosis see Tay-Sachs disease
• B. burgdorferi infection see Lyme disease
• Baller-Gerold syndrome
• Ballinger-Wallace syndrome see Maternally inherited diabetes and deafness
• Baltic myoclonic epilepsy see Unverricht-Lundborg disease
• Baltic myoclonus see Unverricht-Lundborg disease
• Baltic myoclonus epilepsy see Unverricht-Lundborg disease
• BAM syndrome see Bosma arhinia microphthalmia syndrome
• bamboo hair syndrome see Netherton syndrome
• BAMS see Bosma arhinia microphthalmia syndrome
• BANF see Neurofibromatosis type 2
• bangungut see Brugada syndrome
• Bannayan-Riley-Ruvalcaba syndrome
• Bannayan-Ruvalcaba-Riley syndrome see Bannayan-Riley-Ruvalcaba syndrome
• Bannayan-Zonana syndrome see Bannayan-Riley-Ruvalcaba syndrome
• BAP1 tumor predisposition syndrome
• BAP1-related tumor predisposition syndrome see BAP1 tumor predisposition syndrome
• BAP1-TPDS see BAP1 tumor predisposition syndrome
• Baraitser-Winter syndrome
• Bardet-Biedl syndrome
• bare lymphocyte syndrome type 2 see Bare lymphocyte syndrome type II
• Bare lymphocyte syndrome type I
• Bare lymphocyte syndrome type II
• Bart-Pumphrey syndrome
• Barth syndrome
• Bartholin-Patau syndrome see Trisomy 13
• Bartter disease see Bartter syndrome
• Bartter syndrome
• Bartter's syndrome see Bartter syndrome
• basal cell nevus syndrome see Gorlin syndrome
• basal ganglia disease, adult-onset see Neuroferritinopathy
• Basedow disease see Graves disease
• Basedow's disease see Graves disease
• Bassen-Kornzweig disease see Abetalipoproteinemia
• Bassen-Kornzweig syndrome see Abetalipoproteinemia
• Batten-Mayou disease see CLN3 disease
• Batten-Spielmeyer-Vogt disease see CLN3 disease
• BBGD see Biotin-thiamine-responsive basal ganglia disease
• BBS see Bardet-Biedl syndrome
• BCD see Bietti crystalline dystrophy
• BCD syndrome see Blepharocheilodontic syndrome
• BCDS see Blepharocheilodontic syndrome
• BCIE see Epidermolytic hyperkeratosis
• BCKD deficiency see Maple syrup urine disease
• BCNS see Gorlin syndrome
• BDA see Diamond-Blackfan anemia
• BDLS see Cornelia de Lange syndrome
• BDPLT1 see Bernard-Soulier syndrome
• BDPLT11 see Glycoprotein VI deficiency
• BDPLT4 see Gray platelet syndrome
• BDS see Diamond-Blackfan anemia
• beaded hair see Monilethrix
• Beals syndrome see Congenital contractural arachnodactyly
• Beals-Hecht syndrome see Congenital contractural arachnodactyly
• Beare-Stevenson cutis gyrata syndrome
• Bechterew disease see Ankylosing spondylitis
• Beckwith-Wiedemann syndrome
• Behcet disease see Behçet disease
• Behcet syndrome see Behçet disease
• Behcet triple symptom complex see Behçet disease
• Behcet's syndrome see Behçet disease
• Behçet disease
• Benign chronic pemphigus
• Benign essential blepharospasm
• benign essential tremor see Essential tremor
• benign familial neonatal convulsions see Benign familial neonatal seizures
• benign familial neonatal epilepsy see Benign familial neonatal seizures
• Benign familial neonatal seizures
• benign familial pemphigus see Benign chronic pemphigus
• benign familial polycythemia see Familial erythrocytosis
• benign neonatal convulsions see Benign familial neonatal seizures
• benign neonatal epilepsy see Benign familial neonatal seizures
• benign paroxysmal peritonitis see Familial Mediterranean fever
• benign pilomatricoma see Pilomatricoma
• benign pilomatrixoma see Pilomatricoma
• Benign recurrent intrahepatic cholestasis
• benign scapuloperoneal muscular dystrophy with early contractures see Emery-Dreifuss muscular dystrophy
• Berardinelli-Seip congenital lipodystrophy see Congenital generalized lipodystrophy
• Berardinelli-Seip syndrome see Congenital generalized lipodystrophy
• Berdon syndrome see Megacystis-microcolon-intestinal hypoperistalsis syndrome
• Berlin breakage syndrome see Nijmegen breakage syndrome
• Bernard-Horner syndrome see Horner syndrome
• Bernard-Soulier syndrome
• Bessel-Hagen disease see Hereditary multiple osteochondromas
• Beta thalassemia
• beta-alanine synthase deficiency see Beta-ureidopropionase deficiency
• beta-D-mannosidosis see Beta-mannosidosis
• beta-galactosidase-1 (GLB1) deficiency see GM1 gangliosidosis
• beta-glucuronidase deficiency see Mucopolysaccharidosis type VII
• Beta-hexosaminidase-beta-subunit deficiency see Sandhoff disease
• Beta-ketothiolase deficiency
• beta-mannosidase deficiency see Beta-mannosidosis
• Beta-mannosidosis
• Beta-propeller protein-associated neurodegeneration
• beta-sitosterolemia see Sitosterolemia
• Beta-ureidopropionase deficiency
• betalipoprotein deficiency disease see Abetalipoproteinemia
• Beuren syndrome see Williams syndrome
• BFNS see Benign familial neonatal seizures
• BGS see Baller-Gerold syndrome
• BH4 deficiency see Tetrahydrobiopterin deficiency
• BHD see Birt-Hogg-Dubé syndrome
• Biason-Lauber syndrome see Müllerian aplasia and hyperandrogenism
• Biber-Haab-Dimmer dystrophy see Lattice corneal dystrophy type I
• bidirectional tachycardia induced by catecholamines see Catecholaminergic polymorphic ventricular tachycardia
• BIDS syndrome see Trichothiodystrophy
• BIE see Epidermolytic hyperkeratosis
• Bietti crystalline corneoretinal dystrophy see Bietti crystalline dystrophy
• Bietti crystalline dystrophy
• Bietti crystalline retinopathy see Bietti crystalline dystrophy
• Bietti tapetoretinal degeneration with marginal corneal dystrophy see Bietti crystalline dystrophy
• bifunctional peroxisomal enzyme deficiency see D-bifunctional protein deficiency
• bilateral acoustic neurofibromatosis see Neurofibromatosis type 2
• bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance see Burn-McKeown syndrome
• bilateral striopallidodentate calcinosis see Primary familial brain calcification
• bimanual synergia see Congenital mirror movement disorder
• bimanual synkinesis see Congenital mirror movement disorder
• BIOT see Biotinidase deficiency
• biotin-responsive basal ganglia disease see Biotin-thiamine-responsive basal ganglia disease
• Biotin-thiamine-responsive basal ganglia disease
• Biotinidase deficiency
• bipolar affective disorder see Bipolar disorder
• bipolar affective psychosis see Bipolar disorder
• Bipolar disorder
• bipolar spectrum disorder see Bipolar disorder
• Birk-Barel mental retardation dysmorphism syndrome see KCNK9 imprinting syndrome
• Birk-Barel syndrome see KCNK9 imprinting syndrome
• Birt-Hogg-Dubé syndrome
• Bjornstad syndrome see Björnstad syndrome
• BJS see Björnstad syndrome
• Björnstad syndrome
• BKT see Beta-ketothiolase deficiency
• black liver-jaundice syndrome see Dubin-Johnson syndrome
• Blackfan Diamond anemia see Diamond-Blackfan anemia
• Blackfan-Diamond disease see Diamond-Blackfan anemia
• Blackfan-Diamond syndrome see Diamond-Blackfan anemia
• Bladder cancer
• Blau syndrome
• bleeding diathesis due to a collagen receptor defect see Glycoprotein VI deficiency
• bleeding disorder, platelet-type, 1 see Bernard-Soulier syndrome
• bleeding disorder, platelet-type, 11 see Glycoprotein VI deficiency
• bleeding disorder, platelet-type, 4 see Gray platelet syndrome
• blepharo-cheilo-dontic syndrome see Blepharocheilodontic syndrome
• blepharo-cheilo-odontic syndrome see Blepharocheilodontic syndrome
• Blepharocheilodontic syndrome
• blepharophimosis and mental retardation syndrome, Say-Barber/Biesecker/Young-Simpson type see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• blepharophimosis syndrome see Blepharophimosis, ptosis, and epicanthus inversus syndrome
• blepharophimosis, ptosis, and epicanthus inversus see Blepharophimosis, ptosis, and epicanthus inversus syndrome
• Blepharophimosis, ptosis, and epicanthus inversus syndrome
• blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type see Ohdo syndrome, Maat-Kievit-Brunner type
• blepharophimosis-ptosis-intellectual disability syndrome see Kaufman oculocerebrofacial syndrome
• Bloch-Siemens syndrome see Incontinentia pigmenti
• Bloch-Siemens-Sulzberger Syndrome see Incontinentia pigmenti
• Bloch-Sulzberger Syndrome see Incontinentia pigmenti
• Bloom syndrome
• Bloom's syndrome see Bloom syndrome
• Bloom-Torre-Machacek syndrome see Bloom syndrome
• BLS type II see Bare lymphocyte syndrome type II
• BLT syndrome see Brain-lung-thyroid syndrome
• blue baby syndrome see Methemoglobinemia, beta-globin type
• BMCC deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
• BMKS see Burn-McKeown syndrome
• BMRS SBBYS see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• BMRS, MKB type see Ohdo syndrome, Maat-Kievit-Brunner type
• BNHS see Boucher-Neuhäuser syndrome
• BNS see Boucher-Neuhäuser syndrome
• BO syndrome see Branchiootorenal/branchiootic syndrome
• BOFS see Branchio-oculo-facial syndrome
• Bohring syndrome see Bohring-Opitz syndrome
• Bohring-Opitz syndrome
• Bonneau-Beaumont syndrome see Hyperferritinemia-cataract syndrome
• Boomerang dysplasia
• BOPS see Bohring-Opitz syndrome
• BOR see Branchiootorenal/branchiootic syndrome
• BOR syndrome see Branchiootorenal/branchiootic syndrome
• Borrelia burgdorferi infection see Lyme disease
• borreliosis, Lyme see Lyme disease
• BOS see Bohring-Opitz syndrome
• BOS see Buschke-Ollendorff syndrome
• BOS see Branchiootorenal/branchiootic syndrome
• Bosma arhinia microphthalmia syndrome
• Bosma syndrome see Bosma arhinia microphthalmia syndrome
• Boucher-Neuhäuser syndrome
• Bourneville disease see Tuberous sclerosis complex
• Bourneville phakomatosis see Tuberous sclerosis complex
• Bowen Hutterite syndrome see Bowen-Conradi syndrome
• Bowen syndrome, Hutterite type see Bowen-Conradi syndrome
• Bowen-Conradi Hutterite syndrome see Bowen-Conradi syndrome
• Bowen-Conradi syndrome
• BPAN see Beta-propeller protein-associated neurodegeneration
• BPES see Blepharophimosis, ptosis, and epicanthus inversus syndrome
• BPIDS see Kaufman oculocerebrofacial syndrome
• Brachial Neuralgia see Hereditary neuralgic amyotrophy
• Brachial Neuritis see Hereditary neuralgic amyotrophy
• Brachial Plexus Neuritis see Hereditary neuralgic amyotrophy
• Brachmann-de Lange syndrome see Cornelia de Lange syndrome
• brachydactyly with joint dysplasia see Liebenberg syndrome
• brachydactyly-elbow wrist dysplasia syndrome see Liebenberg syndrome
• brachydactyly-mental retardation syndrome see 2q37 deletion syndrome
• brachydactyly-spherophakia syndrome see Weill-Marchesani syndrome
• brachymorphy with spherophakia syndrome see Weill-Marchesani syndrome
• Bradyopsia
• brain small-vessel disease with hemorrhage see COL4A1-related brain small-vessel disease
• Brain-lung-thyroid syndrome
• brain-thyroid-lung syndrome see Brain-lung-thyroid syndrome
• branched-chain alpha-keto acid dehydrogenase deficiency see Maple syrup urine disease
• branched-chain ketoaciduria see Maple syrup urine disease
• brancher deficiency see Glycogen storage disease type IV
• branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging see Branchio-oculo-facial syndrome
• branching enzyme deficiency see Glycogen storage disease type IV
• Branchio-oculo-facial syndrome
• branchio-oto-renal syndrome see Branchiootorenal/branchiootic syndrome
• branchio-otorenal dysplasia see Branchiootorenal/branchiootic syndrome
• branchio-otorenal syndrome see Branchiootorenal/branchiootic syndrome
• branchiootic syndrome see Branchiootorenal/branchiootic syndrome
• branchiootorenal dysplasia see Branchiootorenal/branchiootic syndrome
• branchiootorenal spectrum disorders see Branchiootorenal/branchiootic syndrome
• branchiootorenal syndrome see Branchiootorenal/branchiootic syndrome
• Branchiootorenal/branchiootic syndrome
• Breast cancer
• breast cancer, familial see Breast cancer
• breast carcinoma see Breast cancer
• BRIC see Benign recurrent intrahepatic cholestasis
• Brittle bone disease see Osteogenesis imperfecta
• brittle hair-intellectual impairment-decreased fertility-short stature syndrome see Trichothiodystrophy
• Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
• Brody disease see Brody myopathy
• Brody myopathy
• bronze diabetes see Hereditary hemochromatosis
• bronzed cirrhosis see Hereditary hemochromatosis
• Brooke-Fordyce trichoepitheliomas see Multiple familial trichoepithelioma
• Brooke-Spiegler syndrome
• Brown-Vialetto-Van Laere syndrome see Riboflavin transporter deficiency neuronopathy
• BRRS see Bannayan-Riley-Ruvalcaba syndrome
• BRSS see Brooke-Spiegler syndrome
• Bruck syndrome 1 see Kuskokwim syndrome
• Brugada syndrome
• Brunner syndrome see Monoamine oxidase A deficiency
• Brunner-Winter syndrome see Feingold syndrome
• Brunzell syndrome (with bone cysts) see Congenital generalized lipodystrophy
• Bruton's agammaglobulinemia see X-linked agammaglobulinemia
• BRWS see Baraitser-Winter syndrome
• BSCL see Congenital generalized lipodystrophy
• BSEP deficiency see Progressive familial intrahepatic cholestasis
• BSS see Bernard-Soulier syndrome
• BSS see Brooke-Spiegler syndrome
• BTBGD see Biotin-thiamine-responsive basal ganglia disease
• BTD deficiency see Biotinidase deficiency
• BTHS see Barth syndrome
• Buckley syndrome see Autosomal dominant hyper-IgE syndrome
• bulbospinal muscular atrophy, X-linked see Spinal and bulbar muscular atrophy
• bulging cornea see Keratoconus
• bullous congenital ichthyosiform erythroderma see Epidermolytic hyperkeratosis
• bullous erythroderma ichthyosiforme see Epidermolytic hyperkeratosis
• bullous erythroderma ichthyosiformis congenita of Brocq see Epidermolytic hyperkeratosis
• bullous ichthyosiform erythroderma see Epidermolytic hyperkeratosis
• bundle branch block see Progressive familial heart block
• Bunion
• bunion of great toe see Bunion
• Burger-Grutz syndrome see Familial lipoprotein lipase deficiency
• Burn-McKeown syndrome
• Buschke-Ollendorff syndrome
• butyrylcholinesterase deficiency see Pseudocholinesterase deficiency
• BVVLS see Riboflavin transporter deficiency neuronopathy
• BWCNS see Bowen-Conradi syndrome
• BWS see Beckwith-Wiedemann syndrome
• Byler disease see Progressive familial intrahepatic cholestasis
• Byler syndrome see Progressive familial intrahepatic cholestasis
• BZS see Bannayan-Riley-Ruvalcaba syndrome