Rare Disease Database

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What Is the NORD Rare Disease Database?

With more than 1,200 rare disorders, you can explore rare disease reports that include information on symptoms, causes, treatments, clinical trials, and sources of help such as patient advocacy organizations. Each report has a list of references, such as textbooks, articles, and government agency reports.

What Is a Rare Disease?

A rare disorder is a disease or condition that affects fewer than 200,000 Americans. Cumulatively, there are more than 7,000 rare diseases affecting more than 30 million Americans. NORD is committed to the identification, treatment, and cure of rare diseases through education, advocacy, research, and service programs.

Need more help?

One of the first places many newly diagnosed rare disease patients and their families turn to is the NORD Rare Disease Database. If you didn’t find what you’re looking for, NORD can help.

NORD Rare Disease Report
48, XXYY Syndrome

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

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NORD Rare Disease Report
Aarskog Syndrome

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

NORD Rare Disease Report

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)

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NORD Rare Disease Report

Also known as: Acanthocheilonemiasis perstans Dipetalonema perstans Dipetalonemiasis Mansonella perstans

NORD Rare Disease Report

Also known as: familial apoceruloplasmin deficiency hereditary ceruloplasmin deficiency

NORD Rare Disease Report

Also known as: cardiospasm dyssynergia esophagus esophageal aperistalsis megaesophagus

NORD Rare Disease Report

Also known as: ACH achondroplastic dwarfism dwarf, achondroplastic

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