Genetic and Rare Diseases Information Center | GARD
Navigate information throughout the diagnostic journey. Discover resources, disease experts, or clinical studies for a rare disease. Important: GARD provides information about rare diseases for your general knowledge and is not a substitute for the advice of a health care provider.
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Explore GARD's list of rare diseases. Filter by category or search by disease name, acronym, or synonym. Rare diseases found on GARD should not be used as policy statements of NCATS or the NIH.
About GARD - Genetic and Rare Diseases Information Center
Learn more about rare diseases at U.S. FDA. GARD collects data from a variety of sources to populate its website and provide accurate and reliable information on rare diseases. GARD uses data collected from Orphanet and Online Mendelian Inheritance in Man (OMIM) to interpret and provide information on rare diseases.
Meige disease | About the Disease | GARD - Genetic and Rare …
Meige disease is a primary lymphedema that results from abnormal transport of lymph fluid. Individuals with this condition usually develop swelling in the lower legs and feet during puberty. Some affected individuals develop a non-contagious skin infection called cellulitis, which can further damage the lymphatic vessels (the thin tubes that ...
Hemoglobin D disease | About the Disease | GARD - Genetic and …
Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia). Read More. Read Less. Resource(s) for Medical Professionals and Scientists on This Disease:
Myelodysplastic syndrome | About the Disease | GARD - Genetic …
Myelodysplastic syndromes (MDS) are a group of blood disorders characterized by abnormal development of blood cells within the bone marrow. People with MDS have abnormally low blood cell levels (low blood counts).
17q12 microdeletion syndrome | About the Disease | GARD
17q12 deletion syndrome is a chromosome abnormality in which there is a small missing piece (deletion) of genetic material on the long arm (q) of chromosome 17. Signs and symptoms can vary widely among people with this syndrome.
Syndromic diarrhea | About the Disease | GARD - Genetic and Rare ...
Syndromic diarrhea is a condition that affects the hair, liver, and intestines. The condition is characterized by chronic diarrhea that begins during the first six months after birth. Continued diarrhea can lead to an inability to gain weight (failure to thrive).
Estrogen resistance syndrome | About the Disease | GARD
Estrogen resistance syndrome is a rare, genetic endocrine disease characterized by estrogen-receptor insensitivity to estrogens and the presence of elevated estrogen and gonadotropin serum levels.
Tay-Sachs disease | About the Disease | GARD - Genetic and Rare ...
Tay-Sachs disease is a rare, inherited neurodegenerative disease. People with Tay-Sachs disease do not have enough of an enzyme called beta-hexosaminidase A. The less enzyme a person has, the more severe the disease and the earlier that symptoms appear.