47, XXX (Trisomy X) · 47, XXY (Klinefelter Syndrome) · 48, XXYY Syndrome · 5,10 – Methenyltetrahydrofolate Synthetase Deficiency · Aarskog Syndrome.
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Rare Disease Database · Acquired Aplastic Anemia · Acquired Hemophilia · Acquired Lipodystrophy · Acquired Neuromyotonia · Acrocallosal Syndrome, Schinzel Type.
Rare Diseases · Babesiosis · Botulism · Chagas Disease (American Trypanosomiasis) · CNS Whipple Disease · Dermatologic Manifestations of Necrotizing Fasciitis ...
B · Bachmann-Bupp syndrome · Balo concentric sclerosis · Banki syndrome · Batten disease ; D · D-Glyceric acidemia · Danon disease · Darier's disease · GLUT1 ...
Browse by Disease - Genetic and Rare Diseases Information Center
rarediseases.info.nih.gov › diseases
Browse by Disease. Explore GARD's list of rare diseases. Filter by category or search by disease name, acronym, or synonym. Rare diseases found on GARD ...
Other Rare Diseases and Disorders We Treat at UPMC Children's Hospital · Adrenoleukodystrophy · Bare Lymphocyte Syndrome (BLS) · Byler Disease · CANDLE Syndrome ...
Rare Disease List · 15q 26.2 Deletion · 48,XXYY Syndrome · Abetalipoproteinemia · Acute Hepatic Porphyria/Acute Intermittent Porphyria (AIP) · Acute Flaccid Myelitis ...
Over six to seven thousand rare diseases have been discovered and these diseases are serious, often chronic and progressive. There is no cure for most of rare ...
Orphanet maintains the Orphanet nomenclature of rare diseases, essential in improving the visibility of rare diseases in health and research information systems ...
What are the different effects of rare diseases? · Duchenne Muscular Dystrophy (DMD) is a genetic condition caused by a mutation in the dystrophin gene. Affects: ...