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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

48, XXYY Syndrome

Also known as: XXYY syndrome, 48, XXYY variant of Klinefelter syndrome, 48, XXYY Klinefelter syndrome

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

Acanthosis Nigricans

Also known as: AN
Subdivisions: Acanthosis Nigricans With Insulin Resistance Type A, Acanthosis Nigricans With Insulin Resistance Type B, Benign Acanthosis Nigricans, Drug-induced Acanthosis Nigricans, Hereditary Benign Acanthosis Nigricans, Malignant Acanthosis Nigricans, Pseudoacanthosis Nigricans


Also known as: familial apoceruloplasmin deficiency, hereditary ceruloplasmin deficiency


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


Subdivisions: achondrogenesis type IA (Houston-Harris type), achondrogenesis type IB (Fraccaro type), achondrogenesis type II (Langer-Saldino type)


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

Acid Sphingomyelinase Deficiency

Also known as: ASMD, ASM Deficiency, Acid Sphingomyelinase-deficient Niemann-Pick Disease, ASM-deficient Niemann-Pick Disease
Subdivisions: Niemann-Pick disease type A (NPD-A), Niemann-Pick disease type B (NPD-B)

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 Lipodystrophy

Subdivisions: acquired generalized lipodystrophy (AGL; Lawrence syndrome), acquired partial lipodystrophy (APL; Barraquer-Simons syndrome), high active antiretroviral therapy (HAART) induced lipodystrophy (LD-HIV), localized lipodystrophy

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