Rare Genetic Diseases List — Diagnose Rare Genetic Diseases with Genome Sequencing. Get Help Today. Help a Child Fight...
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Rare Diseases
- Agammaglobulinemia.
- Goodpasture Syndrome.
- Granulomatosis with Polyangiitis (GPA, formerly Wegener Granulomatosis)
- Leukocyte Adhesion Deficiency.
- Pediatric Bruton Agammaglobulinemia.
- Pediatric Severe Combined Immunodeficiency.
- Schnitzler Syndrome.
- X-Linked (Bruton) Agammaglobulinemia.
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Need more help? · 47, XXX (Trisomy X) · 47, XXY (Klinefelter Syndrome) · 48, XXYY Syndrome · 5,10 – Methenyltetrahydrofolate Synthetase Deficiency · Aarskog ...
Other Rare Diseases and Disorders We Treat at UPMC Children's Hospital · Adrenoleukodystrophy · Bare Lymphocyte Syndrome (BLS) · Byler Disease · CANDLE Syndrome ...
Rare Disease Database · Acquired Aplastic Anemia · Acquired Hemophilia · Acquired Lipodystrophy · Acquired Neuromyotonia · Acrocallosal Syndrome, Schinzel Type.
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 ...
Rare Disease: Pioneering the Science of Breakthroughs - Pfizer
www.pfizer.com › science › focus-areas
Gene Therapy · Acromegaly · Duchenne Muscular Dystrophy · Gaucher Disease · Growth Hormone Deficiency · Hemophilia · Sickle Cell Disease ...
Rare Disease List · 15q 26.2 Deletion · 48,XXYY Syndrome · Abetalipoproteinemia · Acute Hepatic Porphyria/Acute Intermittent Porphyria (AIP) · Acute Flaccid ...
What are the most common rare diseases? · Ehlers –Danlos Syndrome (EDS) · Sickle Cell · Cystic Fibrosis · Duchenne Muscular Dystrophy (DMD) · Haemophilia.
Feb 29, 2024 · Learn about these five rare diseases to support governments, scientists and healthcare professionals to find treatments · 1. Stoneman Syndrome · 2 ...