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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Weismann-Netter syndrome

ORPHA:3344Порок

Weiss-Kruszka Syndrome

ORPHA:502430Порок
Autosomal dominant

White forelock with malformations

ORPHA:2475Порок

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

ORPHA:3207Порок

Wieacker-Wolff syndrome

ORPHA:3454Порок
Not applicable, X-linked recessive

Wiedemann-Rautenstrauch syndrome

ORPHA:3455Порок
Autosomal recessive

Wiedemann-Steiner syndrome

ORPHA:319182Порок
Autosomal dominant

Wildervanck syndrome

ORPHA:3456Порок

Williams syndrome

ORPHA:904Порок
Autosomal dominant

Wilson-Turner syndrome

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

Witteveen-Kolk syndrome

ORPHA:500163Порок
Autosomal dominant

Wolf-Hirschhorn syndrome

ORPHA:280Порок
Multigenic/multifactorial, Not applicable

Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

ORPHA:166277Порок
Unknown

Wormian bones-micrognathia-abnormal dentition-progeroid syndrome

ORPHA:659873Порок
Autosomal dominant

X small rings syndrome

ORPHA:96201Порок

X-linked alpha-thalassemia-intellectual disability syndrome

ORPHA:847Порок
X-linked recessive

X-linked cleft palate and ankyloglossia

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

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

ORPHA:431140Порок
X-linked recessive

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

ORPHA:500188Порок
X-linked recessive

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

ORPHA:480880Порок
X-linked dominant

X-linked intellectual disability, Abidi type

ORPHA:85273Порок
X-linked recessive

X-linked intellectual disability, Armfield type

ORPHA:85276Порок
X-linked recessive

X-linked intellectual disability, Cabezas type

ORPHA:85293Порок
X-linked recessive

X-linked intellectual disability, Cantagrel type

ORPHA:85277Порок
X-linked recessive