Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Aymé-Gripp syndrome
Autosomal recessive
Infancy, Neonatal
BNAR syndrome
Autosomal recessive
Antenatal, Neonatal
BOR syndrome
Autosomal dominant
Antenatal, Childhood, Infancy, Neonatal
BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome
Autosomal dominant
BRESEK syndrome
X-linked dominant
Childhood
Baller-Gerold syndrome
Autosomal recessive
Antenatal, Neonatal
Bamforth-Lazarus syndrome
Autosomal recessive
Antenatal, Neonatal
Bangstad syndrome
Autosomal recessive
Neonatal
Banki syndrome
Autosomal dominant
Neonatal
Baraitser-Winter cerebrofrontofacial syndrome
Autosomal dominant, Not applicable
Antenatal, Infancy, Neonatal
Barber-Say syndrome
Autosomal dominant, Autosomal recessive, Not applicable
Neonatal
Bartsocas-Papas syndrome
Autosomal recessive
Antenatal, Neonatal
Basel-Vanagaite-Smirin-Yosef syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
Beckwith-Wiedemann syndrome
Autosomal dominant, Unknown
Antenatal, Neonatal
Beemer-Ertbruggen syndrome
Autosomal recessive
Neonatal
Behr syndrome
Autosomal recessive
Bencze syndrome
Autosomal dominant
Childhood
Bifid nose
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Bilateral microtia-deafness-cleft palate syndrome
Autosomal dominant, Autosomal recessive
Neonatal
Biliary atresia with splenic malformation syndrome
Multigenic/multifactorial
Infancy, Neonatal
Birt-Hogg-Dubé syndrome
Autosomal dominant
Adolescent, Adult, Childhood, Elderly
Blepharo-cheilo-odontic syndrome
Autosomal dominant
Neonatal
Blepharonasofacial malformation syndrome
Autosomal dominant, X-linked dominant
Childhood
Blepharophimosis-intellectual disability syndrome, MKB type
X-linked recessive
Infancy, Neonatal