47, XXX (Trisomy X) · 47, XXY (Klinefelter Syndrome) · 48, XXYY Syndrome · 5,10 – Methenyltetrahydrofolate Synthetase Deficiency · Aarskog Syndrome.
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Rare Diseases · Achondrogenesis · Aicardi Syndrome · Asphyxiating Thoracic Dystrophy (Jeune Syndrome) · Bloom Syndrome (Congenital Telangiectatic Erythema) · Chediak ...
Rare Disease Database · Acquired Aplastic Anemia · Acquired Hemophilia · Acquired Lipodystrophy · Acquired Neuromyotonia · Acrocallosal Syndrome, Schinzel Type.
Other Rare Diseases and Disorders We Treat at UPMC Children's Hospital · Adrenoleukodystrophy · Bare Lymphocyte Syndrome (BLS) · Byler Disease · CANDLE Syndrome ...
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 ...
It may seem unfair to be diagnosed with a rare disease, but learning as much as you can will help you cope with your illness.
Rare Disease List · 15q 26.2 Deletion · 48,XXYY Syndrome · Abetalipoproteinemia · Acute Hepatic Porphyria/Acute Intermittent Porphyria (AIP) · Acute Flaccid Myelitis ...
Rare diseases present a wide variety of symptoms, which often appear unrelated on the surface. Rare medical conditions can touch a person's life at any moment; ...
Feb 29, 2024 · 1. Stoneman Syndrome · 2. Alice In Wonderland Syndrome (AIWS) · 3. Hutchinson-Gilford Progeria Syndrome (HGPS) · 4. Alkaptonuria · 5. Chronic Focal ...
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