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

Weismann-Netter syndrome

ORPHA:3344Мальформация

Weiss-Kruszka Syndrome

ORPHA:502430Мальформация
Autosomal dominant

White forelock with malformations

ORPHA:2475Мальформация

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

ORPHA:3207Мальформация

Wieacker-Wolff syndrome

ORPHA:3454Мальформация
Not applicable, X-linked recessive

Wiedemann-Rautenstrauch syndrome

ORPHA:3455Мальформация
Autosomal recessive

Wiedemann-Steiner syndrome

ORPHA:319182Мальформация
Autosomal dominant

Wildervanck syndrome

ORPHA:3456Мальформация

Williams syndrome

ORPHA:904Мальформация
Autosomal dominant

Wilson-Turner syndrome

ORPHA:3459Мальформация
X-linked dominant, X-linked recessive

Witteveen-Kolk syndrome

ORPHA:500163Мальформация
Autosomal dominant

Wolf-Hirschhorn syndrome

ORPHA:280Мальформация
Multigenic/multifactorial, Not applicable

Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

ORPHA:166277Мальформация
Unknown

Wormian bones-micrognathia-abnormal dentition-progeroid syndrome

ORPHA:659873Мальформация
Autosomal dominant

X small rings syndrome

ORPHA:96201Мальформация

X-linked alpha-thalassemia-intellectual disability syndrome

ORPHA:847Мальформация
X-linked recessive

X-linked cleft palate and ankyloglossia

ORPHA:324601Мальформация
X-linked dominant, X-linked recessive

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

ORPHA:431140Мальформация
X-linked recessive

X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome

ORPHA:500188Мальформация
X-linked recessive

X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability

ORPHA:480880Мальформация
X-linked dominant

X-linked intellectual disability, Abidi type

ORPHA:85273Мальформация
X-linked recessive

X-linked intellectual disability, Armfield type

ORPHA:85276Мальформация
X-linked recessive

X-linked intellectual disability, Cabezas type

ORPHA:85293Мальформация
X-linked recessive

X-linked intellectual disability, Cantagrel type

ORPHA:85277Мальформация
X-linked recessive