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B variant GM2 gangliosidosis see Tay-Sachs disease
Balance Problems
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
BANF see neurofibromatosis type 2
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
Bartholin-Patau syndrome see trisomy 13
Bartter syndrome
basal cell nevus syndrome see Gorlin syndrome
basal ganglia disease, adult-onset see neuroferritinopathy
Bassen-Kornzweig Syndrome see abetalipoproteinemia
Batten disease see juvenile Batten disease
Batten-Mayou disease see juvenile Batten disease
Batten-Spielmeyer-Vogt disease see juvenile Batten 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
BDS see Diamond-Blackfan anemia
Beals-Hecht syndrome see congenital contractural arachnodactyly
Beals syndrome see congenital contractural arachnodactyly
Beare-Stevenson cutis gyrata syndrome
Bechterew Disease see ankylosing spondylitis
Beckwith-Wiedemann syndrome
Behçet disease
Behcet's Syndrome see Behçet disease
benign congenital muscular dystrophy see Bethlem myopathy
benign congenital myopathy with contractures see Bethlem myopathy
benign essential blepharospasm
benign essential tremor see essential tremor
benign familial neonatal seizures
benign familial polycythemia see familial erythrocytosis
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
Benign Tumors
Berardinelli-Seip congenital lipodystrophy
Berlin breakage syndrome see Nijmegen breakage syndrome
Bernard-Horner syndrome see Horner syndrome
Bessel-Hagen disease see hereditary multiple exostoses
3 beta-HSD deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
3-beta-hydroxysteroid dehydrogenase deficiency
3 beta-ol dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
11 beta hydroxylase deficiency see congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
17-beta hydroxysteroid dehydrogenase 3 deficiency
17β-hydroxysteroid dehydrogenase type 10 deficiency
beta-galactosidase-1 (GLB1) deficiency see GM1 gangliosidosis
Beta-galactosidosis 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 thalassemia
Betalipoprotein Deficiency Disease see abetalipoproteinemia
Bethlem myopathy
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 WNT4 Müllerian aplasia and ovarian dysfunction
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 dystrophy
Bilateral Acoustic Neurofibromatosis see neurofibromatosis type 2
bilateral striopallidodentate calcinosis see familial idiopathic basal ganglia calcification
Bile Duct Diseases
BIOT see biotinidase deficiency
biotinidase deficiency
Bipolar Disorder see PPM-X syndrome
Birt-Hogg-Dubé syndrome
Birth Defects
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 Disorders
blepharophimosis and mental retardation syndrome, Say-Barber/Biesecker/Young-Simpson type see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
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, and epicanthus inversus syndrome
Bloch-Siemens-Sulzberger Syndrome see incontinentia pigmenti
Bloch-Siemens syndrome see incontinentia pigmenti
Bloch-Sulzberger Syndrome see incontinentia pigmenti
Blood Clots
Blood Disorders
Bloom syndrome
blue baby syndrome see methemoglobinemia, beta-globin type
BMCC deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
BMPR1A-related juvenile polyposis see juvenile polyposis syndrome
BMRS, MKB type see Ohdo syndrome, Maat-Kievit-Brunner type
BMRS SBBYS see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
BOFS see branchio-oculo-facial syndrome
Bone Cancer
Bone Density
Bone Diseases
Bone Marrow Diseases
Bonneau-Beaumont syndrome see hyperferritinemia-cataract syndrome
boomerang dysplasia
BOR see branchiootorenal syndrome
Bourneville Disease see tuberous sclerosis complex
Bourneville Phakomatosis see tuberous sclerosis complex
BPES see blepharophimosis, ptosis, and epicanthus inversus 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-mental retardation syndrome see 2q37 deletion syndrome
Brain Diseases
Brain Malformations
brain small-vessel disease with hemorrhage see COL4A1-related brain small-vessel disease
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 syndrome
Branchio-Otorenal Dysplasia see branchiootorenal syndrome
Branchio-Otorenal Syndrome see branchiootorenal syndrome
branchiootorenal syndrome
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 myopathy
Bronze Diabetes see hemochromatosis
Bronzed cirrhosis see hemochromatosis
Brooke-Fordyce trichoepitheliomas see multiple familial trichoepithelioma
Brooke-Spiegler syndrome
Brown-Vialetto-Van Laere syndrome
BRRS see Bannayan-Riley-Ruvalcaba syndrome
BRSS see Brooke-Spiegler syndrome
Brugada syndrome
Brunzell syndrome (with bone cysts) see Berardinelli-Seip congenital lipodystrophy
Bruton's agammaglobulinemia see X-linked agammaglobulinemia
BRWS see Baraitser-Winter syndrome
BSCL see Berardinelli-Seip congenital lipodystrophy
BSEP deficiency see progressive familial intrahepatic cholestasis
BSS see Brooke-Spiegler syndrome
BTD deficiency see biotinidase deficiency
Buckley syndrome see Job 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
Burger-Grutz syndrome see familial lipoprotein lipase deficiency
butyrylcholinesterase deficiency see pseudocholinesterase deficiency
BVVLS see Brown-Vialetto-Van Laere 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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