NORD Physician Guides

Guide Index

Latest Guides

+ Amyloidosis

+ Hereditary Angioedema

+ Homocystinurias

+ Lipodsytrophy Disorders

+ Myelofibrosis

+ Pompe Disease

+ Treacher Collins Syndrome

+ Tyrosinemia Type 1

+ Urea Cycle Disorders

For additional information on over
3,000 other rare diseases visit
NORD's Rare Disease Database >

Pompe Disease
Pompe disease is an autosomal recessively inherited metabolic disorder that affects one of more than 40 lysosomal enzymes. Pompe disease can present in infancy, childhood, adolescence or adulthood.
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Myelofibrosis
Myelofibrosis (MF) is categorized as a chronic myeloproliferative neoplasm (MPN). This is a group of heterogeneous, hematopoietic stem-cell malignancies.
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Lipodystrophy Disorders
Lipodystrophies are disorders characterized by selective loss of adipose tissue (body fat) from various regions of the body. These disorders may be either inherited or acquired.
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Urea Cycle Disorders
The urea cycle disorders are hereditary metabolic disorders caused by a deficiency of one of the enzymes in the urea cycle responsible for removing ammonia from the bloodstream.
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  • NORD is a unique federation of individuals and voluntary health organizations dedicated to helping people with rare diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment and cure of rare diseases through programs of education, advocacy, research, and patient services.
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