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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

X linked Lymphoproliferative Syndrome

Also known as: Duncan Disease, EBV Susceptibility (EBVS), Epstein-Barr Virus-Induced Lymphoproliferative Disease in Males, Immunodeficiency-5 (IMD5), Purtilo Syndrome, X-Linked Progressive Combined Variable Immunodeficiency, XLP

X-Linked Adrenoleukodystrophy

Also known as: ALD, X-ALD
Subdivisions: adrenomyeloneuropathy (AMN), adult cerebral ALD, childhood cerebral ALD, Addison’s-only ALD

X-linked Opitz G/BBB Syndrome

Also known as: hypertelorism-hypospadius syndrome (obsolete), Opitz BBBG syndrome, Opitz-G syndrome, telecanthus-hypospadius syndrome (obsolete), XLOS

XYY Syndrome

Also known as: 47, XYY syndrome, Jacob's syndrome, XYY karyotype, YY syndrome

Yunis Varon Syndrome

Also known as: cleidocranial dysplasia with micrognathia, absent thumbs, distal aphalangia

Zellweger Spectrum Disorders

Also known as: peroxisomal biogenesis disorders, Zellweger syndrome spectrum (ZSS), ZSD
Subdivisions: Heimler syndrome, infantile Refsum disease, neonatal adrenoleukodystrophy, Zellweger syndrome