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

Upington disease

ORPHA:3408Malform.
Autosomal dominant

Upper limb defect-eye and ear abnormalities syndrome

ORPHA:2489Malform.

Upper limb mesomelic dysplasia, type Fryns

ORPHA:2497Malform.

Urban-Rogers-Meyer syndrome

ORPHA:3409Malform.

Urofacial syndrome

ORPHA:2704Malform.
Autosomal recessive

Uveal coloboma-cleft lip and palate-intellectual disability

ORPHA:1473Malform.
Autosomal dominant

VACTERL with hydrocephalus

ORPHA:3412Malform.
Autosomal recessive, X-linked recessive

VACTERL/VATER association

ORPHA:887Malform.
Not applicable

Van den Ende-Gupta syndrome

ORPHA:2460Malform.
Autosomal recessive

Van der Woude syndrome

ORPHA:888Malform.
Autosomal dominant, Not applicable

Velo-facial-skeletal syndrome

ORPHA:3424Malform.

Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome

ORPHA:3201Malform.
Unknown

Verloove Vanhorick-Brubakk syndrome

ORPHA:3429Malform.

Vici syndrome

ORPHA:1493Malform.
Autosomal recessive

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

ORPHA:73246Malform.
Autosomal recessive

Vitamin K antagonist embryofetopathy

ORPHA:1914Malform.
Not applicable

Von Voss-Cherstvoy syndrome

ORPHA:3439Malform.
Autosomal recessive

W syndrome

ORPHA:2804Malform.
X-linked recessive

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

ORPHA:466943Malform.
Autosomal dominant, Not applicable, Unknown

WAGR syndrome

ORPHA:893Malform.
Autosomal dominant

Warsaw breakage syndrome

ORPHA:280558Malform.
Autosomal recessive

Weaver syndrome

ORPHA:3447Malform.
Autosomal dominant, Not applicable

Weaver-Williams syndrome

ORPHA:3448Malform.
Autosomal recessive

Weill-Marchesani syndrome

ORPHA:3449Malform.
Autosomal dominant, Autosomal recessive