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

Upington disease

ORPHA:3408Malf.
Autosomal dominant

Upper limb defect-eye and ear abnormalities syndrome

ORPHA:2489Malf.

Upper limb mesomelic dysplasia, type Fryns

ORPHA:2497Malf.

Urban-Rogers-Meyer syndrome

ORPHA:3409Malf.

Urofacial syndrome

ORPHA:2704Malf.
Autosomal recessive

Uveal coloboma-cleft lip and palate-intellectual disability

ORPHA:1473Malf.
Autosomal dominant

VACTERL with hydrocephalus

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

VACTERL/VATER association

ORPHA:887Malf.
Not applicable

Van den Ende-Gupta syndrome

ORPHA:2460Malf.
Autosomal recessive

Van der Woude syndrome

ORPHA:888Malf.
Autosomal dominant, Not applicable

Velo-facial-skeletal syndrome

ORPHA:3424Malf.

Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome

ORPHA:3201Malf.
Unknown

Verloove Vanhorick-Brubakk syndrome

ORPHA:3429Malf.

Vici syndrome

ORPHA:1493Malf.
Autosomal recessive

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

ORPHA:73246Malf.
Autosomal recessive

Vitamin K antagonist embryofetopathy

ORPHA:1914Malf.
Not applicable

Von Voss-Cherstvoy syndrome

ORPHA:3439Malf.
Autosomal recessive

W syndrome

ORPHA:2804Malf.
X-linked recessive

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

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

WAGR syndrome

ORPHA:893Malf.
Autosomal dominant

Warsaw breakage syndrome

ORPHA:280558Malf.
Autosomal recessive

Weaver syndrome

ORPHA:3447Malf.
Autosomal dominant, Not applicable

Weaver-Williams syndrome

ORPHA:3448Malf.
Autosomal recessive

Weill-Marchesani syndrome

ORPHA:3449Malf.
Autosomal dominant, Autosomal recessive