MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

Weismann-Netter syndrome

ORPHA:3344Malf.

Weiss-Kruszka Syndrome

ORPHA:502430Malf.
Autosomal dominant

White forelock with malformations

ORPHA:2475Malf.

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

ORPHA:3207Malf.

Wieacker-Wolff syndrome

ORPHA:3454Malf.
Not applicable, X-linked recessive

Wiedemann-Rautenstrauch syndrome

ORPHA:3455Malf.
Autosomal recessive

Wiedemann-Steiner syndrome

ORPHA:319182Malf.
Autosomal dominant

Wildervanck syndrome

ORPHA:3456Malf.

Williams syndrome

ORPHA:904Malf.
Autosomal dominant

Wilson-Turner syndrome

ORPHA:3459Malf.
X-linked dominant, X-linked recessive

Witteveen-Kolk syndrome

ORPHA:500163Malf.
Autosomal dominant

Wolf-Hirschhorn syndrome

ORPHA:280Malf.
Multigenic/multifactorial, Not applicable

Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

ORPHA:166277Malf.
Unknown

Wormian bones-micrognathia-abnormal dentition-progeroid syndrome

ORPHA:659873Malf.
Autosomal dominant

X small rings syndrome

ORPHA:96201Malf.

X-linked alpha-thalassemia-intellectual disability syndrome

ORPHA:847Malf.
X-linked recessive

X-linked cleft palate and ankyloglossia

ORPHA:324601Malf.
X-linked dominant, X-linked recessive

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

ORPHA:431140Malf.
X-linked recessive

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

ORPHA:500188Malf.
X-linked recessive

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

ORPHA:480880Malf.
X-linked dominant

X-linked intellectual disability, Abidi type

ORPHA:85273Malf.
X-linked recessive

X-linked intellectual disability, Armfield type

ORPHA:85276Malf.
X-linked recessive

X-linked intellectual disability, Cabezas type

ORPHA:85293Malf.
X-linked recessive

X-linked intellectual disability, Cantagrel type

ORPHA:85277Malf.
X-linked recessive