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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 ...
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 ...
Rare Disease List · 15q 26.2 Deletion · 48,XXYY Syndrome · Abetalipoproteinemia · Acute Hepatic Porphyria/Acute Intermittent Porphyria (AIP) · Acute Flaccid ...
B · Bachmann-Bupp syndrome · Balo concentric sclerosis · Banki syndrome · Batten disease ; D · D-Glyceric acidemia · Danon disease · Darier's disease · GLUT1 ...
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 most common rare diseases? · Ehlers –Danlos Syndrome (EDS) · Sickle Cell · Cystic Fibrosis · Duchenne Muscular Dystrophy (DMD) · Haemophilia.