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Y-Z
B variant GM2 gangliosidosis
see
Tay-Sachs disease
Baller-Gerold syndrome
Baltic myoclonic epilepsy
see
Unverricht-Lundborg disease
Baltic myoclonus
see
Unverricht-Lundborg disease
BANF
see
neurofibromatosis type 2
Bartholin-Patau syndrome
see
trisomy 13
Basal Cell Nevus Syndrome
see
Gorlin syndrome
basal ganglia disease, adult-onset
see
neuroferritinopathy
Bassen-Kornzweig Syndrome
see
abetalipoproteinemia
BCKD deficiency
see
maple syrup urine disease
BCNS
see
Gorlin syndrome
BDLS
see
Cornelia de Lange syndrome
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
benign essential tremor
see
essential tremor
Benign paroxysmal peritonitis
see
familial Mediterranean fever
Benign scapuloperoneal muscular dystrophy with early contractures
see
Emery-Dreifuss muscular dystrophy
Benign Tumors
Berardinelli-Seip congenital lipodystrophy
Bessel-Hagen disease
see
hereditary multiple exostoses
17-beta hydroxysteroid dehydrogenase 3 deficiency
Beta-hexosaminidase-beta-subunit deficiency
see
Sandhoff disease
beta-ketothiolase deficiency
beta-mannosidase deficiency
see
beta-mannosidosis
beta-mannosidosis
beta thalassemia
Betalipoprotein Deficiency Disease
see
abetalipoproteinemia
Beuren syndrome
see
Williams syndrome
BGS
see
Baller-Gerold syndrome
BH4 Deficiency
see
tetrahydrobiopterin deficiency
BHD
see
Birt-Hogg-Dubé syndrome
Bilateral Acoustic Neurofibromatosis
see
neurofibromatosis type 2
Bile Duct Diseases
see
Alagille syndrome
BIOT
see
biotinidase deficiency
biotinidase deficiency
Birt-Hogg-Dubé syndrome
BKT
see
beta-ketothiolase deficiency
bladder cancer
Bleeding Disorders
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 and Blood Disorders
Blood Protein Disorders
Bloom syndrome
blue baby syndrome
see
methemoglobinemia, beta-globin type
BMCC deficiency
see
3-methylcrotonyl-coenzyme A carboxylase deficiency
Bone Cancer
see
Li-Fraumeni syndrome
Bone Diseases
Bone Marrow Diseases
BOR
see
branchiootorenal syndrome
Bourneville Disease
see
tuberous sclerosis
Bourneville Phakomatosis
see
tuberous sclerosis
BPES
see
blepharophimosis, ptosis, and epicanthus inversus syndrome
Brachmann-De Lange Syndrome
see
Cornelia de Lange syndrome
Brain Diseases
Branched-chain alpha-keto acid dehydrogenase deficiency
see
maple syrup urine disease
Branched-Chain Ketoaciduria
see
maple syrup urine disease
Branchio-Oculo-Facial Syndrome
see
branchiootorenal syndrome
Branchio-Oto-Renal Syndrome
see
branchiootorenal syndrome
Branchio-Otorenal Dysplasia
see
branchiootorenal syndrome
Branchio-Otorenal Syndrome
see
branchiootorenal syndrome
branchiootorenal syndrome
breast cancer
see
breast cancer
;
Li-Fraumeni syndrome
Brittle bone disease
see
osteogenesis imperfecta
Broad Thumb-Hallux Syndrome
see
Rubinstein-Taybi syndrome
Bronze Diabetes
see
hemochromatosis
Bronzed cirrhosis
see
hemochromatosis
Brugada syndrome
Brunzell syndrome (with bone cysts)
see
Berardinelli-Seip congenital lipodystrophy
Bruton's agammaglobulinemia
see
X-linked agammaglobulinemia
BSCL
see
Berardinelli-Seip congenital lipodystrophy
BTD deficiency
see
biotinidase deficiency
Buckley syndrome
see
Job syndrome
Bulbospinal muscular atrophy, X-linked
see
spinal and bulbar muscular atrophy
Burger-Grutz syndrome
see
familial lipoprotein lipase deficiency
BWS
see
Beckwith-Wiedemann syndrome
Published: January 23, 2009