MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

Upington disease

ORPHA:3408Мальформация
Autosomal dominant

Upper limb defect-eye and ear abnormalities syndrome

ORPHA:2489Мальформация

Upper limb mesomelic dysplasia, type Fryns

ORPHA:2497Мальформация

Urban-Rogers-Meyer syndrome

ORPHA:3409Мальформация

Urofacial syndrome

ORPHA:2704Мальформация
Autosomal recessive

Uveal coloboma-cleft lip and palate-intellectual disability

ORPHA:1473Мальформация
Autosomal dominant

VACTERL with hydrocephalus

ORPHA:3412Мальформация
Autosomal recessive, X-linked recessive

VACTERL/VATER association

ORPHA:887Мальформация
Not applicable

Van den Ende-Gupta syndrome

ORPHA:2460Мальформация
Autosomal recessive

Van der Woude syndrome

ORPHA:888Мальформация
Autosomal dominant, Not applicable

Velo-facial-skeletal syndrome

ORPHA:3424Мальформация

Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome

ORPHA:3201Мальформация
Unknown

Verloove Vanhorick-Brubakk syndrome

ORPHA:3429Мальформация

Vici syndrome

ORPHA:1493Мальформация
Autosomal recessive

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

ORPHA:73246Мальформация
Autosomal recessive

Vitamin K antagonist embryofetopathy

ORPHA:1914Мальформация
Not applicable

Von Voss-Cherstvoy syndrome

ORPHA:3439Мальформация
Autosomal recessive

W syndrome

ORPHA:2804Мальформация
X-linked recessive

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

ORPHA:466943Мальформация
Autosomal dominant, Not applicable, Unknown

WAGR syndrome

ORPHA:893Мальформация
Autosomal dominant

Warsaw breakage syndrome

ORPHA:280558Мальформация
Autosomal recessive

Weaver syndrome

ORPHA:3447Мальформация
Autosomal dominant, Not applicable

Weaver-Williams syndrome

ORPHA:3448Мальформация
Autosomal recessive

Weill-Marchesani syndrome

ORPHA:3449Мальформация
Autosomal dominant, Autosomal recessive