Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.
- 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, see Hailey-Hailey disease
- 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 Hailey-Hailey disease
- 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
- BFNE, see Benign familial neonatal seizures
- BFNS, see Benign familial neonatal seizures
- BGS, see Baller-Gerold syndrome
- BH4 deficiency, see Tetrahydrobiopterin deficiency
- BHD, see Birt-Hogg-Dubé syndrome
- Biallelic mismatch repair deficiency syndrome, see Constitutional mismatch repair deficiency 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-(propionyl-CoA-carboxylase) ligase deficiency, see Holocarboxylase synthetase deficiency
- Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency, see Holocarboxylase synthetase 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
- 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
- Bladder carcinoma urinary, see Bladder cancer
- Bladder tumor, see 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
- BMMRD, see Constitutional mismatch repair deficiency 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 Buschke-Ollendorff syndrome
- BOS, see Bohring-Opitz 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
- Brown-Vialetto-Van Laere syndrome, see Riboflavin transporter deficiency neuronopathy
- BRRS, see Bannayan-Riley-Ruvalcaba 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
- 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
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