MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Aymé-Gripp syndrome

ORPHA:1272Malf.
Autosomal recessive

BNAR syndrome

ORPHA:217266Malf.
Autosomal recessive

BOR syndrome

ORPHA:107Malf.
Autosomal dominant

BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome

ORPHA:686482Malf.
Autosomal dominant

BRESEK syndrome

ORPHA:85284Malf.
X-linked dominant

Baller-Gerold syndrome

ORPHA:1225Malf.
Autosomal recessive

Bamforth-Lazarus syndrome

ORPHA:1226Malf.
Autosomal recessive

Bangstad syndrome

ORPHA:1227Malf.
Autosomal recessive

Banki syndrome

ORPHA:1228Malf.
Autosomal dominant

Baraitser-Winter cerebrofrontofacial syndrome

ORPHA:2995Malf.
Autosomal dominant, Not applicable

Barber-Say syndrome

ORPHA:1231Malf.
Autosomal dominant, Autosomal recessive, Not applicable

Bartsocas-Papas syndrome

ORPHA:1234Malf.
Autosomal recessive

Basel-Vanagaite-Smirin-Yosef syndrome

ORPHA:464738Malf.
Autosomal recessive

Beckwith-Wiedemann syndrome

ORPHA:116Malf.
Autosomal dominant, Unknown

Beemer-Ertbruggen syndrome

ORPHA:1237Malf.
Autosomal recessive

Behr syndrome

ORPHA:1239Malf.
Autosomal recessive

Bencze syndrome

ORPHA:1241Malf.
Autosomal dominant

Bifid nose

ORPHA:2695Malf.
Autosomal dominant, Autosomal recessive

Bilateral microtia-deafness-cleft palate syndrome

ORPHA:140963Malf.
Autosomal dominant, Autosomal recessive

Biliary atresia with splenic malformation syndrome

ORPHA:244283Malf.
Multigenic/multifactorial

Birt-Hogg-Dubé syndrome

ORPHA:122Malf.
Autosomal dominant

Blepharo-cheilo-odontic syndrome

ORPHA:1997Malf.
Autosomal dominant

Blepharonasofacial malformation syndrome

ORPHA:1252Malf.
Autosomal dominant, X-linked dominant

Blepharophimosis-intellectual disability syndrome, MKB type

ORPHA:293707Malf.
X-linked recessive