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Rare Disease Information

Rare Disease Database

Enhancements to NORD’s Rare Disease Database and website were made possible through a grant from the Anthem Foundation, the charitable arm of Anthem, Inc.

NORD’s Rare Disease Database provides brief introductions for patients and caregivers to specific rare diseases. Medical experts and representatives of patient organizations who would like to assist NORD in developing reports on topics not currently covered in this database may write to [email protected].


Rare Disease Database

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Ventricular Septal Defects

Also known as: Congenital Ventricular Defects, Hole in the Heart, VSD
Subdivisions: Common Ventricle, Cor Triloculare Biatriatum, Eisenmenger Syndrome, Maladie de Roger, Roger Disease

Vogt-Koyanagi-Harada Disease

Also known as: alopecia-poliosis-uveitis-vitiligo-deafness-cutaneous-uveo-oto syndrome, Harada syndrome, uveomeningitis syndrome, VKH syndrome

Von Willebrand Disease

Also known as: VWD
Subdivisions: von Willebrand syndrome type 1, von Willebrand syndrome type 2A, von Willebrand syndrome type 2B, von Willebrand syndrome type 2M, von Willebrand syndrome type 2N, von Willebrand syndrome type 3

Waardenburg Syndrome

Also known as: WS
Subdivisions: Waardenburg syndrome type IIA (WS2A), Waardenburg syndrome type IIB (WS2B), Waardenburg syndrome type III (WS3), Waardenburg syndrome type II (WS2), Waardenburg syndrome type IV (WS4), Waardenburg syndrome type I (WS1)

WAGR Syndrome/11p Deletion Syndrome

Also known as: chromosome 11p deletion syndrome, WAGR complex
Subdivisions: AGR triad, aniridia-ambiguous genitalia-mental retardation, aniridia-Wilms' tumor association, aniridia-Wilms' tumor-gonadoblastoma, AWTA

Walker Warburg Syndrome

Also known as: muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type A (MDDGA), cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD syndrome), hydrocephalus, agyria, and retinal dysplasia (HARD syndrome)

Wandering Spleen

Also known as: Displaced Spleen, Drifting Spleen, Floating Spleen, Pelvic Spleen, Splenic Ptosis, Splenoptosis, Systopic Spleen, WS

WAS Related Disorders

Also known as: WAS, Wiskott Aldrich syndrome, X-linked congenital neutropenia, X-linked thrombocytopenia

Weaver Syndrome

Also known as: overgrowth syndrome with accelerated skeletal maturation, unusual facies and camptodactyly, Weaver-Smith syndrome, WS, EZH2-related overgrowth

Weil Syndrome

Also known as: Fiedler Disease, Icteric Leptospirosis, Icterohemorrhagic Leptospirosis, Infectious Jaundice, Lancereaux-Mathieu-Weil Spirochetosis, Leptospiral Jaundice, Spirochetal Jaundice, Weil Disease

Weill Marchesani Syndrome

Also known as: congenital mesodermal dysmorphodystrophy, mesodermal dysmorphodystrophy, congenital, spherophakia-brachymorphia syndrome, WMS, WM syndrome