Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Unspecified mitochondrial disorder
Autosomal recessive, X-linked recessive
Unstable alpha globin chain variant disease
Autosomal dominant
Unstable beta globin chain variant disease
Autosomal dominant
Childhood
Unstable gamma globin chain variant disease
Autosomal dominant
Upington disease
Autosomal dominant
No data available
Upper limb defect-eye and ear abnormalities syndrome
Infancy, Neonatal
Upper limb mesomelic dysplasia, type Fryns
Neonatal
Upper tract urothelial carcinoma
No data available
Urachal carcinoma
Not applicable
Urachal cyst
Not applicable
Infancy, Neonatal
Urachal diverticulum
Not applicable
Urachal sinus
Not applicable
Infancy, Neonatal
Urban-Rogers-Meyer syndrome
Infancy
Uremic pruritus
Not applicable
Adolescent, Adult, Childhood, Elderly
Urocanic aciduria
Autosomal recessive
Infancy, Neonatal
Urofacial syndrome
Autosomal recessive
Childhood
Usher syndrome
Autosomal recessive
Childhood, Infancy, Neonatal
Usher syndrome type 1
Autosomal recessive
Infancy, Neonatal
Usher syndrome type 2
Autosomal recessive
Infancy, Neonatal
Usher syndrome type 3
Autosomal recessive
Adolescent, Childhood
Uveal coloboma-cleft lip and palate-intellectual disability
Autosomal dominant
Neonatal
Uveal melanoma
Not applicable
Adult
Uveitis
VACTERL with hydrocephalus
Autosomal recessive, X-linked recessive
Infancy, Neonatal