Disease List
- Bannayan-Riley-Ruvalcaba syndrome
- Bardet-Biedl Syndrome
- Barrett syndrome - See Barrett's esophagus
- Barrett ulcer - See Barrett's esophagus
- Barrett's esophagus
- Barth syndrome
- Bartholin-Patau syndrome - See Trisomy 13
- Batten disease - See Neuronal ceroid lipofuscinosis
- Beckwith-wiedemann syndrome
- beta-glucuronidase Deficiency - See Mucopolysaccharidosis Type VII
- Beta-thalassemia
- Bethlem Myopathy
- Bifid nose
- Bilateral renal agenesis
- Biotinidase deficiency
- Bloom syndrome
- BMCC deficiency - See 3-methylcrotonyl-coa carboxylase deficiency (3-MCC)
- BOR syndrome - See Branchiootorenal syndrome
- BOS - See Branchiootic syndrome
- Bourneville disease - See Tuberous sclerosis
- Brain Tumor-Polyposis Syndrome 1 - See Turcot syndrome
- branchiootic dysplasia - See Branchiootic syndrome
- Branchiootic syndrome
- Branchiootorenal syndrome
- BRCA1, familial breast-ovarian cancer susceptibility 1
- BRCA2, familial breast-ovarian cancer susceptibility 2
- Bronze Schilder Disease - See Adrenoleukodystrophy
- Brown-Vialetto-Van Laere syndrome
- Brugada syndrome
- BTP1 Syndrome - See Turcot syndrome
- BTPS1 - See Turcot syndrome
