[A] [B-C] [D-E-F] [G-H-I] [J-K-L] [M-N-O] [P-Q-R] [S-T-U] [W-X-Y-Z]
- Beare-Stevenson Syndrom
- Beckwith-Wiedemann-Syndrom
- Bernard-Soulier-Syndrom Typ A
- Bernard-Soulier-Syndrom Typ B
- Bernard-Soulier-Syndrom Typ C
- Beta-Thalassämie
- BFNC 1 Neugeborenenkrämpfe, benigne familiäre; EBN1
- BFNC 2 Neugeborenenkrämpfe, benigne familiäre; EBN2
- BFNIS Anfälle, benigne familiäre neonatal-infantile
- BOR-Syndrom
- BOR-Syndrom 2
- Budd-Chiari-Syndrom
- Bruck-Syndrom 2
- Brustkrebsrisiko, familiäres
- CADASIL
- CBAVD
- Charcot-Marie-Tooth Typ1A
- Charcot-Marie-Tooth Typ1B
- Charcot-Marie-Tooth Typ1C
- Charcot-Marie-Tooth Typ1D
- Charcot-Marie-Tooth Typ1E
- Charcot-Marie-Tooth Typ2A
- Charcot-Marie-Tooth Typ2B1
- Charcot-Marie-Tooth TypX1
- CHARGE-Syndrom
- Cherubismus
- Chondrodysplasia punctata 1
- Chondrodysplasia punctata 2
- Chondrodysplasia punctata, rhizomele Form
- Chorea Huntington
- Cockayne-Syndrom Typ A
- Cockayne-Syndrom Typ B
- Cornelia-de-Lange Syndrom 1
- Cornelia-de-Lange Syndrom 2
- Costello-Syndrom
- CPT II Mangel Carnitin-Palmitoyltransferase-II-Mangel
- Crigler-Najjar-Syndrom Typ 1+2
- Crouzon Syndrom
- Currarino Syndrom