Rare Disease Database

Rare Disease Database

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Rare Disease Database Reports Additional Rare Disease Briefs
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What Is the NORD Rare Disease Database?

The NORD Rare Disease Database has over 1,300 reports on rare disorders. These reports provide detailed information about symptoms, causes, diagnosis, treatments, clinical trials, and support resources, including patient advocacy organizations. Each report includes references from textbooks, articles, websites, and government agencies.

NORD also provides many reports in Spanish, and additional translations can be requested by contacting us at [email protected].

WHAT IS A RARE DISEASE?

A rare disorder is a condition that affects fewer than 200,000 Americans. There are over 10,000 rare diseases that together affect more than 30 million Americans. NORD is dedicated to the identification, treatment, and cure of these diseases through comprehensive education, advocacy, research, and service programs.

ADDITIONAL RESOURCES AND SUPPORT

While many rare conditions in our database have detailed reports, some do not have much detail yet. You can click on the disease name to find information about that condition from well-respected sources. Some of the information from these additional resources has technical language, so you may want to talk to your healthcare provider about it.

NEED MORE HELP?

If you cannot find the information you need, our Information and Resource Services team is always available to help, and our team can be reached by phone at (800) 469-0283 or email: [email protected].

NORD Rare Disease Report
47, XXX (Trisomy X)

Also known as: 47, XXX 47, XXX karyotype 47, XXX syndrome triple X syndrome triple X XXX syndrome

NORD Rare Disease Report
48, XXYY Syndrome

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

* También disponible en español

NORD Rare Disease Report
Aarskog Syndrome

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

* También disponible en español

NORD Rare Disease Report
Abetalipoproteinemia

Also known as: ABL Bassen-Kornzweig syndrome low density lipoprotein deficiency microsomal triglyceride transfer protein deficiency MTP deficiency familial hypobetalipoproteinemia due to secretion defect 1 (FHBL-SD1)

* También disponible en español

NORD Rare Disease Report
Acanthocheilonemiasis

Also known as: Acanthocheilonemiasis perstans Dipetalonema perstans Dipetalonemiasis Mansonella perstans

NORD Rare Disease Report
Aceruloplasminemia

Also known as: familial apoceruloplasmin deficiency hereditary ceruloplasmin deficiency

NORD Rare Disease Report
Achalasia

Also known as: cardiospasm dyssynergia esophagus esophageal aperistalsis megaesophagus

NORD Rare Disease Report
Achondroplasia

Also known as: ACH achondroplastic dwarfism dwarf, achondroplastic

* También disponible en español

NORD Rare Disease Report
Acid Sphingomyelinase Deficiency

Also known as: ASMD ASM Deficiency Acid Sphingomyelinase-deficient Niemann-Pick Disease ASM-deficient Niemann-Pick Disease

NORD Rare Disease Report
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

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