Genetic diseases-B
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- 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
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