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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

0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Weismann Netter Stuhl Syndrome

Also known as: anterior bowing of the legs with dwarfism, skeletal dysplasia, Weismann Netter Stuhl type, toxopachyosteose diaphysaire tibio-peroniere, Weismann-Netter syndrome

Werdnig-Hoffmann Disease

Also known as: infantile spinal muscular atrophy, SMA 1, SMA, infantile acute form, spinal muscular atrophy type 1, Werdnig-Hoffman paralysis

Werner Syndrome

Also known as: Werner’s syndrome, progeria of adults, WS

West Nile Encephalitis

Also known as: Eastern equine encephalitis, EEE, Japanese encephalitis, Kunjin fever, Venezuelan encephalitis, Viral encephalitis, WEE, Western equine encephalitis, West Nile Fever, West Nile virus, WNE

West Syndrome

Also known as: epileptic spasms, infantile spasms
Subdivisions: x linked infantile spasms

WHIM Syndrome

Also known as: warts, hypogammaglobulinemia, infections and myelokathexis syndrome

Whipple Disease

Also known as: Intestinal Lipodystrophy, Intestinal Lipophagic Granulomatosis, Malabsorption Syndrome, Secondary Non-tropical Sprue

Wieacker Syndrome

Also known as: Apraxia, Oculomotor, with Congenital Contractures and Muscle Atrophy, Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia, Wieacker-Wolff Syndrome, WRWF, intellectual disability-developmental delay-contractures syndrome
Subdivisions: No subdivisions found

Wiedemann Rautenstrauch Syndrome

Also known as: neonatal progeroid syndrome, neonatal pseudo-hydrocephalic progeroid syndrome of WRS, Rautenstrauch-Wiedemann syndrome

Williams Syndrome

Also known as: Beuren Syndrome, Early Hypercalcemia Syndrome with Elfin Facies, Elfin Facies with Hypercalcemia, Hypercalcemia-Supravalvar Aortic Stenosis, WBS, Williams-Beuren Syndrome, WMS

Wilson Disease

Also known as: hepatolenticular degeneration, lenticular degeneration, progressive

Winchester Syndrome

Also known as: Winchester-Grossman syndrome, Torg-Winchester syndrome, Winchester disease, MONA (multicentric osteolysis, nodulosis, and arthropathy)

WNT4 Deficiency

Also known as: Biason-Lauber syndrome, Mullerian aplasia and hyperandrogenism, WNT4 Mullerian aplasia, WNT4 syndrome

Wolfram Syndrome

Also known as: diabetes insipidus, diabetes mellitus, optic atrophy and deafness, DIDMOAD

Wolman Disease

Also known as: acid cholesteryl ester hydrolase deficiency, Wolman type, lysosomal acid lipase deficiency, Wolman type, LAL deficiency, Wolman type
Subdivisions: No subdivisions found