Browse by Disease - Genetic and Rare Diseases Information Center
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.
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.
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 ...
Immune thrombocytopenia | About the Disease | GARD - Genetic …
Disease at a Glance. Summary. Immune thrombocytopenia, also known as Idiopathic thrombocytopenic purpura (ITP) is a bleeding disorder characterized by too few platelets in the blood. This is because platelets are being destroyed by the immune system.
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 4, also known as congenital insensitivity to pain with anhidrosis (CIPA), is an inherited disease where there is an inability to feel pain and temperature, and decreased or absent sweating (anhidrosis).
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).
Rosaï-Dorfman disease | About the Disease | GARD - Genetic and …
Rosai-Dorfman disease is a benign disease which is characterized by over-production and accumulation of a specific type of white blood cell (histiocyte) in the lymph nodes of the body, most often those of the neck (cervical).
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:
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.