Health Conditions
Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.
- B variant GM2 gangliosidosis, see Tay-Sachs 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
- bamboo hair syndrome, see Netherton 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
- Baraitser-Winter syndrome
- Bardet-Biedl syndrome
- 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 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
- 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
- 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
- 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-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 familial idiopathic basal ganglia 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
- Birt-Hogg-Dubé syndrome
- Bjornstad syndrome, see Björnstad syndrome
- BJS, see Björnstad syndrome
- Björnstad syndrome
- BKT, see beta-ketothiolase deficiency
- 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 disorder, platelet-type, 1, see Bernard-Soulier syndrome
- bleeding disorder, platelet-type, 4, see gray platelet 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
- 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
- BOS, see branchiootorenal/branchiootic 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
- 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
- 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 Brooke-Spiegler syndrome
- 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
- 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
- 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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