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Main Categories
Aarskog Syndrome
Aase Syndrome
Ablepharon-Macrostomia Syndrome
Alagille Syndrome
Alfi's Syndrome
Alkaptonuria
Alpha-1 Antitrypsin Deficiency
Batten Disease
Beckwith-Wiedemann Syndrome
Bloom Syndrome
Branchio-Oto-Renal Syndrome
Coffin Lowry Syndrome
Cohen Syndrome
Costello Syndrome
Cowden Syndrome
Craniofrontonasal Dysplasia
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Currarino Syndrome
Cystic Fibrosis
DiGeorge Syndrome
Down Syndrome
Dubowitz Syndrome
Ectodermal Dysplasia
Epidermolysis Bullosa
Familial Hypercholesterolemia
Fatty Oxidation
Floating-Harbor Syndrome
Fragile X Syndrome
Gilbert's Syndrome
Glutaricaciduria
Hailey-Hailey Disease
Hemihypertrophy
Hemochromatosis
Hereditary Angioedema
Hereditary Spastic Paraplegia
Hydrolethalus Syndrome
Incontinentia Pigmenti
Joubert Syndrome
Klinefelter Syndrome
Laurence-Moon Syndrome
Lesch-Nyhan Syndrome
Loeys-Dietz Syndrome
Lowe Syndrome
Machado-Joseph
Mannosidosis
McArdle's
MEB Disease
Meckel-Gruber Syndrome
Mobius Syndrome
Mulibrey Nanism
Nail Patella Syndrome
Nasu-Hakola Disease
Noonan Syndrome
Opitz Syndrome
Organizations
Pallister Killian Mosaic Syndrome
Pallister-Hall Syndrome
Personal Pages
Popliteal Pterygium Syndrome
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Propionic Acidemia
Proteus Syndrome
Prune Belly Syndrome
Pseudoxanthoma Elasticum
RAPADILINO Syndrome
Robinow Syndrome
Russell Silver Syndrome
Sanfilippo Syndrome
Schizencephaly
Shwachman Syndrome
Sirenomelia
Smith Lemli Opitz Syndrome
Smith-Magenis Syndrome
Soto's Syndrome
Sturge-Weber Syndrome
Thrombocytopenia Absent Radius Syndrome
Trichothiodystrophy
Turner Syndrome
Urea Cycle
Usher Syndrome
Velo-Cardio-Facial Syndrome
Von Hippel-Lindau
Waardenburg Syndrome
Weaver Syndrome
Williams Syndrome
Wolf-Hirschhorn Syndrome
Xeroderma Pigmentosum
Zellweger Syndrome