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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

Aarskog Syndrome

Also known as: Aarskog disease, Aarskog-Scott syndrome, AAS, faciodigitogenital syndrome, faciogenital dysplasia, FGDY, Scott Aarskog syndrome


Also known as: ABL, Bassen-Kornzweig syndrome, low density lipoprotein deficiency, microsomal triglyceride transfer protein deficiency, MTP deficiency


Also known as: Acanthocheilonemiasis perstans, Dipetalonema perstans, Dipetalonemiasis, Mansonella perstans


Also known as: familial apoceruloplasmin deficiency, hereditary ceruloplasmin deficiency


Also known as: cardiospasm, dyssynergia esophagus, esophageal aperistalsis, megaesophagus


Also known as: ACH, achondroplastic dwarfism, dwarf, achondroplastic

Acoustic Neuroma

Also known as: acoustic neurilemoma, acoustic neurinoma, fibroblastoma, perineural, neurinoma of the acoustic nerve, neurofibroma of the acoustic nerve, schwannoma of the acoustic nerve, vestibular schwannoma

Acquired Neuromyotonia

Also known as: Isaacs-Merten syndrome, Isaacs' syndrome, continuous muscle fiber activity syndrome

Acrocallosal Syndrome, Schinzel Type

Also known as: Absence of Corpus Callosum, Schinzel Type, ACLS, ACS, Hallux Duplication, Postaxial Polydactyly, and Absence of Corpus Callosum, Schinzel Acrocallosal Syndrome