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Conditions and Diseases: Genetic Disorders

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Home: Conditions and Diseases: Genetic Disorders
  Aarskog Syndrome Aarskog Syndrome (5)
  Aase Syndrome Aase Syndrome (2)
  Ablepharon-Macrostomia Syndrome Ablepharon-Macrostomia Syndrome (4)
  Alagille Syndrome Alagille Syndrome (6)
  Alkaptonuria Alkaptonuria (5)
  Alpha-1 Antitrypsin Deficiency Alpha-1 Antitrypsin Deficiency (11)
  Batten Batten (6)
  Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome (9)
  Coffin Lowry Syndrome Coffin Lowry Syndrome (4)
  Costello Syndrome Costello Syndrome (2)
  Cowden Syndrome Cowden Syndrome (3)
  Craniofrontonasal Dysplasia Craniofrontonasal Dysplasia (3)
  Crigler-Najjar Syndrome Crigler-Najjar Syndrome (3)
  Cystic Fibrosis Cystic Fibrosis (154)
  DiGeorge Syndrome DiGeorge Syndrome (4)
  Down Syndrome Down Syndrome (103)
  Dubowitz Syndrome Dubowitz Syndrome (2)
  Ectodermal Dysplasia Ectodermal Dysplasia (6)
  Familial Hypercholesterolemia Familial Hypercholesterolemia (1)
  Fatty Oxidation Fatty Oxidation (6)
  Floating-Harbor Syndrome Floating-Harbor Syndrome (4)
  Fragile X Syndrome Fragile X Syndrome (16)
  Glutaricaciduria Glutaricaciduria (3)
  Hailey-Hailey Disease Hailey-Hailey Disease (1)
  Hemihypertrophy Hemihypertrophy (3)
  Hemochromatosis Hemochromatosis (18)
  Hereditary Angioedema Hereditary Angioedema (6)
  Hereditary Spastic Paraplegia Hereditary Spastic Paraplegia (6)
  Incontinentia Pigmenti Incontinentia Pigmenti (8)
  Joubert Syndrome Joubert Syndrome (7)
  Klinefelter Syndrome Klinefelter Syndrome (13)
  Laurence-Moon Syndrome Laurence-Moon Syndrome (3)
  Lesch-Nyhan Syndrome Lesch-Nyhan Syndrome (1)
  Lowe Syndrome Lowe Syndrome (2)
  Machado-Joseph Machado-Joseph (3)
  Mannosidosis Mannosidosis (2)
  McArdle's McArdle's (1)
  Meckel-Gruber Syndrome Meckel-Gruber Syndrome (3)
  Mobius Syndrome Mobius Syndrome (5)
  Nail Patella Syndrome Nail Patella Syndrome (6)
  Noonan Syndrome Noonan Syndrome (8)
  Opitz Syndrome Opitz Syndrome (6)
  Organizations Organizations (9)
  Pallister Killian Mosaic Syndrome Pallister Killian Mosaic Syndrome (2)
  Pallister-Hall Syndrome Pallister-Hall Syndrome (4)
  Personal Pages Personal Pages (13)
  Popliteal Pterygium Syndrome Popliteal Pterygium Syndrome (2)
  Prader-Willi Syndrome Prader-Willi Syndrome (11)
  Propionic Acidemia Propionic Acidemia (4)
  Proteus Syndrome Proteus Syndrome (4)
  Prune Belly Syndrome Prune Belly Syndrome (2)
  Pseudoxanthoma Elasticum Pseudoxanthoma Elasticum (3)
  Robinow Syndrome Robinow Syndrome (4)
  Russell Silver Syndrome Russell Silver Syndrome (2)
  Sanfilippo Syndrome Sanfilippo Syndrome (5)
  Schizencephaly Schizencephaly (2)
  Shwachman Syndrome Shwachman Syndrome (7)
  Smith Lemli Opitz Syndrome Smith Lemli Opitz Syndrome (3)
  Smith-Magenis Syndrome Smith-Magenis Syndrome (3)
  Soto's Syndrome Soto's Syndrome (5)
  Sturge-Weber Syndrome Sturge-Weber Syndrome (4)
  Thrombocytopenia Absent Radius Syndrome Thrombocytopenia Absent Radius Syndrome (3)
  Turner Syndrome Turner Syndrome (10)
  Urea Cycle Urea Cycle (2)
  Usher Syndrome Usher Syndrome (2)
  Velo-Cardio-Facial Syndrome Velo-Cardio-Facial Syndrome (5)
  Von Hippel-Lindau Von Hippel-Lindau (4)
  Waardenburg Syndrome Waardenburg Syndrome (2)
  Weaver Syndrome Weaver Syndrome (3)
  Williams Syndrome Williams Syndrome (9)
  Xeroderma Pigmentosum Xeroderma Pigmentosum (7)
  Zellweger Syndrome Zellweger Syndrome (4)
  • Gene Clinics
    Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.

  • XLH Network
    Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.


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