MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

Weismann-Netter syndrome

ORPHA:3344Malform.

Weiss-Kruszka Syndrome

ORPHA:502430Malform.
Autosomal dominant

White forelock with malformations

ORPHA:2475Malform.

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

ORPHA:3207Malform.

Wieacker-Wolff syndrome

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

Wiedemann-Rautenstrauch syndrome

ORPHA:3455Malform.
Autosomal recessive

Wiedemann-Steiner syndrome

ORPHA:319182Malform.
Autosomal dominant

Wildervanck syndrome

ORPHA:3456Malform.

Williams syndrome

ORPHA:904Malform.
Autosomal dominant

Wilson-Turner syndrome

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

Witteveen-Kolk syndrome

ORPHA:500163Malform.
Autosomal dominant

Wolf-Hirschhorn syndrome

ORPHA:280Malform.
Multigenic/multifactorial, Not applicable

Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia

ORPHA:166277Malform.
Unknown

Wormian bones-micrognathia-abnormal dentition-progeroid syndrome

ORPHA:659873Malform.
Autosomal dominant

X small rings syndrome

ORPHA:96201Malform.

X-linked alpha-thalassemia-intellectual disability syndrome

ORPHA:847Malform.
X-linked recessive

X-linked cleft palate and ankyloglossia

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

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

ORPHA:431140Malform.
X-linked recessive

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

ORPHA:500188Malform.
X-linked recessive

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

ORPHA:480880Malform.
X-linked dominant

X-linked intellectual disability, Abidi type

ORPHA:85273Malform.
X-linked recessive

X-linked intellectual disability, Armfield type

ORPHA:85276Malform.
X-linked recessive

X-linked intellectual disability, Cabezas type

ORPHA:85293Malform.
X-linked recessive

X-linked intellectual disability, Cantagrel type

ORPHA:85277Malform.
X-linked recessive