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Genetic_Disorders
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Categories:
Aarskog Syndrome (6) Leigh's *(4)
Aase Syndrome (4) Lesch-Nyhan Syndrome (5)
Ablepharon-Macrostomia Syndrome (4) Leukodystrophy *(28)
Acoustic Neuroma *(13) Lissencephaly *(5)
Adie Syndrome *(6) Lowe Syndrome (5)
Adrenal Hyperplasia *(17) Lymphedema *(33)
Adrenoleukodystrophy *(11) Machado-Joseph (5)
Aicardi Syndrome *(8) Mannosidosis (2)
Alagille Syndrome (5) Marfan Syndrome *(18)
Albinism *(12) McArdle's (4)
Alkaptonuria (5) Meckel-Gruber Syndrome (5)
Alopecia Areata *(18) Menkes' Syndrome *(8)
Alpha-1 Antitrypsin Deficiency (8) Mobius Syndrome (6)
Alstrom Syndrome *(4) Multiple Hereditary Exostoses *(7)
Angelman Syndrome *(16) Muscular Dystrophies *(44)
Apert Syndrome *(10) Myotonic Dystrophy *(4)
Arthrogryposis *(79) Nail Patella Syndrome (10)
Ataxia *(9) Narcolepsy *(28)
Autism *(578) Neurofibromatosis *(17)
Bardet-Biedl Syndrome *(4) Niemann-Pick *(5)
Barth Syndrome *(3) Noonan Syndrome (5)
Batten (8) Opitz Syndrome (5)
Beckwith-Wiedemann Syndrome (6) Organizations (5)
Canavan *(4) Osteogenesis Imperfecta *(7)
Celiac *(37) Pallister-Hall Syndrome (4)
Cerebrocostomandibular Syndrome *(5) Pallister Killian Mosaic Syndrome (3)
Charcot-Marie-Tooth Disease *(4) Personal Pages (9)
Cleidocranial Dysplasia *(6) Phenylketonuria *(5)
Cockayne Syndrome *(3) Polycystic Kidney *(20)
Coffin Lowry Syndrome (6) Popliteal Pterygium Syndrome (2)
Congenital Pain Insensitivity *(3) Porphyrias *(18)
Cornelia De Lange Syndrome *(5) Prader-Willi Syndrome (9)
Costello Syndrome (3) Progeria *(10)
Cowden Syndrome (3) Propionic Acidemia (4)
Craniofrontonasal Dysplasia (4) Proteus Syndrome (4)
Cri du Chat Syndrome *(3) Prune Belly Syndrome (3)
Crigler-Najjar Syndrome (6) Pseudoxanthoma Elasticum (4)
Cystic Fibrosis (63) Refsum's *(5)
Cystinosis *(5) Retinoblastoma *(6)
DiGeorge Syndrome (5) Rett's Syndrome *(27)
Down Syndrome (63) Robinow Syndrome (4)
Dubowitz Syndrome (5) Rubinstein-Taybi Syndrome *(4)
Dwarfism *(10) Russell Silver Syndrome (3)
Ectodermal Dysplasia (5) Sanfilippo Syndrome (4)
Ehlers-Danlos Syndrome *(13) Schizencephaly (3)
Factor V Leiden *(5) Shwachman Syndrome (5)
Familial Dysautonomia *(7) Sickle Cell *(13)
Familial Erythromelalgia *(4) Smith-Magenis Syndrome (4)
Familial Hypercholesterolemia (6) Smith Lemli Opitz Syndrome (3)
Fanconi Anemia *(17) Soto's Syndrome (5)
Fatty Oxidation (4) Spina Bifida *(37)
Floating-Harbor Syndrome (4) Spinal Muscular Atrophy *(11)
Fragile X Syndrome (16) Stickler's Syndrome *(4)
Friedreich Ataxia *(4) Sturge-Weber Syndrome (4)
Galactosemia *(4) Support Groups *(12)
Gaucher's *(16) Tay-Sachs *(8)
Gene Therapy *(65) Thalassemia *(27)
Genetic Testing and Counseling *(14) Thrombocytopenia Absent Radius Syndrome (4)
Glutaricaciduria (4) Tourette Syndrome *(64)
Hallervorden-Spatz Syndrome *(6) Treacher Collins Syndrome *(5)
Hemihypertrophy (4) Tuberous Sclerosis *(12)
Hemochromatosis (14) Turner Syndrome (8)
Hemophilia *(32) Tyrosinemia *(5)
Hereditary Angioedema (5) Urea Cycle (4)
Hereditary Spastic Paraplegia (7) Usher Syndrome (5)
Homocystinuria *(4) VATER Syndrome *(12)
Huntington's *(27) Velo-Cardio-Facial Syndrome (5)
Hydrocephalus *(52) Von Hippel-Lindau (7)
Incontinentia Pigmenti (7) WAGR Syndrome *(3)
Jacobsen Syndrome *(4) Waardenburg Syndrome (5)
Joubert Syndrome (6) Weaver Syndrome (3)
Klinefelter Syndrome (13) Williams Syndrome (8)
Klippel-Feil Syndrome *(4) Wilson's Disease *(14)
Langer-Giedion Syndrome *(2) Xeroderma Pigmentosum (6)
Laurence-Moon Syndrome (4) Zellweger Syndrome (5)
 
 

whatUseek Collection Sites (submit a site ):
 
CAPS Family Connections for people with Cryopyrin-Associated Periodic Syndromes (CAPs) - Information on cryopyrin associated periodic syndromes (CAPS) and a screener survey regarding patient symptoms, including familial history of symptoms and existing diagnosis of CAPS.
 
CAPS Connect USA - CAPS Connect USA - A place to connect people suffering from CAPS and its different syndromes.
 
MS Symptoms and Multiple Sclerosis Treatment - Learn more about MS symptoms and treatment. Learn about multiple sclerosis, connect with an MS community and get MS caregiver support.
 
 

whatUseek Directory Site Listings:
 
Acid Maltase Deficiency - A brief summary of AMD along with links and news.
 
Dr. Greene's HouseCalls - A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease.
 
GeneClinics: Medical Genetics Knowledge Base - NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.
 
Genetic and Rare Conditions Site - Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
 
Primary Ciliary Dyskinesia - Information on a rare congenital disease.
 
Rare Genetic Diseases In Children: An Internet Resource Gateway - A layman's guide to genetic diseases, and a comprehensive resource for families on lysosomal storage diseases.
 
Respiratory Syndromes Associated with Congenital Abnormalities of Mucociliary Clearance - A resource providing information for physicians and patients on laboratory analyses of Primary Ciliary Dyskinesia, Immotile Cilia Syndrome, and Kartagener's Syndrome.
 
Washington University in St Louis - Family resource for individuals with Papillon Lefevre, Haim-Munk Syndrome and Prepubertal Periodontis. Interested families may participate in a registry dedicated to learning about the natural history of these three conditions.
 
Your Genes, Your Health - The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
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