MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Upington disease

ORPHA:3408Порок
Autosomal dominant

Upper limb defect-eye and ear abnormalities syndrome

ORPHA:2489Порок

Upper limb mesomelic dysplasia, type Fryns

ORPHA:2497Порок

Urban-Rogers-Meyer syndrome

ORPHA:3409Порок

Urofacial syndrome

ORPHA:2704Порок
Autosomal recessive

Uveal coloboma-cleft lip and palate-intellectual disability

ORPHA:1473Порок
Autosomal dominant

VACTERL with hydrocephalus

ORPHA:3412Порок
Autosomal recessive, X-linked recessive

VACTERL/VATER association

ORPHA:887Порок
Not applicable

Van den Ende-Gupta syndrome

ORPHA:2460Порок
Autosomal recessive

Van der Woude syndrome

ORPHA:888Порок
Autosomal dominant, Not applicable

Velo-facial-skeletal syndrome

ORPHA:3424Порок

Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome

ORPHA:3201Порок
Unknown

Verloove Vanhorick-Brubakk syndrome

ORPHA:3429Порок

Vici syndrome

ORPHA:1493Порок
Autosomal recessive

Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

ORPHA:73246Порок
Autosomal recessive

Vitamin K antagonist embryofetopathy

ORPHA:1914Порок
Not applicable

Von Voss-Cherstvoy syndrome

ORPHA:3439Порок
Autosomal recessive

W syndrome

ORPHA:2804Порок
X-linked recessive

WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome

ORPHA:466943Порок
Autosomal dominant, Not applicable, Unknown

WAGR syndrome

ORPHA:893Порок
Autosomal dominant

Warsaw breakage syndrome

ORPHA:280558Порок
Autosomal recessive

Weaver syndrome

ORPHA:3447Порок
Autosomal dominant, Not applicable

Weaver-Williams syndrome

ORPHA:3448Порок
Autosomal recessive

Weill-Marchesani syndrome

ORPHA:3449Порок
Autosomal dominant, Autosomal recessive