Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Upington disease
Autosomal dominant
No data available
Upper limb defect-eye and ear abnormalities syndrome
Infancy, Neonatal
Upper limb mesomelic dysplasia, type Fryns
Neonatal
Urban-Rogers-Meyer syndrome
Infancy
Urofacial syndrome
Autosomal recessive
Childhood
Uveal coloboma-cleft lip and palate-intellectual disability
Autosomal dominant
Neonatal
VACTERL with hydrocephalus
Autosomal recessive, X-linked recessive
Infancy, Neonatal
VACTERL/VATER association
Not applicable
Antenatal, Neonatal
Van den Ende-Gupta syndrome
Autosomal recessive
Infancy, Neonatal
Van der Woude syndrome
Autosomal dominant, Not applicable
Antenatal, Neonatal
Velo-facial-skeletal syndrome
Neonatal
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
Unknown
Infancy, Neonatal
Verloove Vanhorick-Brubakk syndrome
Neonatal
Vici syndrome
Autosomal recessive
Antenatal, Neonatal
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
Autosomal recessive
Antenatal, Neonatal
Vitamin K antagonist embryofetopathy
Not applicable
Antenatal, Neonatal
Von Voss-Cherstvoy syndrome
Autosomal recessive
Antenatal, Infancy, Neonatal
W syndrome
X-linked recessive
Infancy, Neonatal
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Autosomal dominant, Not applicable, Unknown
Childhood, Infancy
WAGR syndrome
Autosomal dominant
Antenatal, Neonatal
Warsaw breakage syndrome
Autosomal recessive
Infancy, Neonatal
Weaver syndrome
Autosomal dominant, Not applicable
Antenatal, Neonatal
Weaver-Williams syndrome
Autosomal recessive
Infancy, Neonatal
Weill-Marchesani syndrome
Autosomal dominant, Autosomal recessive
Infancy, Neonatal