Open Directory - Health: Conditions and Diseases: Genetic Disorders

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: Conditions and Diseases
: Genetic Disorders (350)

Aarskog Syndrome (4)
Aase Syndrome (3)
Ablepharon-Macrostomia Syndrome (4)
Acoustic Neuroma@ (14)
Adie Syndrome@ (3)
Adrenal Hyperplasia@ (5)
Adrenoleukodystrophy@ (5)
Aicardi Syndrome@ (7)
Alagille Syndrome (5)
Albinism@ (7)
Alfi's Syndrome (2)
Alkaptanuria@ (7)
Alopecia Areata@ (12)
Alpha-1 Antitrypsin Deficiency@ (12)
Angelman Syndrome@ (16)
Apert Syndrome@ (8)
Arthrogryposis@ (28)
Aspartylglucosaminuria@ (2)
Ataxia@ (12)
Autism@ (393)
Bardet-Biedl Syndrome@ (3)
Barth Syndrome (4)
Batten Disease@ (7)
Beckwith-Wiedemann Syndrome (6)
Bloom Syndrome (4)
Branchio-Oto-Renal Syndrome@ (4)
Brugada Syndrome@ (4)
Canavan@ (3)
Celiac@ (43)
Cerebrocostomandibular Syndrome@ (2)
Charcot-Marie-Tooth Disease@ (15)
Choroideremia@ (3)
Cleidocranial Dysplasia@ (4)
Cockayne Syndrome@ (2)
Coffin Lowry Syndrome@ (4)
Cohen Syndrome (3)
Congenital Lactase Deficiency@ (1)
Congenital Pain Insensitivity@ (1)
Cornea Plana Congenita@ (1)
Cornelia De Lange Syndrome@ (6)
Costello Syndrome (3)
Craniofrontonasal Dysplasia@ (3)
Cri du Chat Syndrome@ (6)
Crigler-Najjar Syndrome@ (6)
Currarino Syndrome@ (3)
Cystic Fibrosis (85)
Cystinosis@ (6)
DiGeorge Syndrome (3)
Down Syndrome (89)
Dubowitz Syndrome (3)
Dwarfism@ (29)
Ectodermal Dysplasia@ (6)
Ehlers-Danlos Syndrome@ (18)
Ellis-van Creveld Syndrome@ (2)
Epidermolysis Bullosa@ (13)
Factor V Leiden@ (4)
Familial Adenomatous Polyposis@ (7)
Familial Dysautonomia@ (5)
Familial Erythromelalgia@ (3)
Familial Hypercholesterolemia@ (6)
Familial Mediterranean Fever@ (5)
Fanconi Anemia@ (11)
Fatty Oxidation@ (5)
Floating-Harbor Syndrome (2)
Fragile X Syndrome (13)
Freeman-Sheldon Syndrome@ (4)
Friedreich Ataxia@ (10)
Fuchs' Dystrophy@ (4)
Galactosemia@ (7)
Gaucher's@ (5)
Gilbert's Syndrome@ (9)
Glutaricaciduria@ (3)
Glycogen Storage Disease Type II@ (4)
GRACILE Syndrome@ (2)
Hailey-Hailey Disease@ (3)
Hallervorden-Spatz Syndrome@ (2)
Hemihypertrophy@ (4)
Hemochromatosis@ (21)
Hemophilia@ (20)
Hereditary Angioedema@ (4)
Hereditary Spastic Paraplegia (6)
Homocystinuria@ (4)
Huntington's@ (19)
Hutchinson-Gilford Progeria Syndrome (0)
Hydrocephalus@ (30)
Hydrolethalus Syndrome (2)
Imerslund-Grasbeck Syndrome@ (2)
Incontinentia Pigmenti@ (6)
Jacobsen Syndrome@ (3)
Joubert Syndrome@ (4)
Klinefelter Syndrome@ (8)
Klippel-Feil Syndrome@ (6)
Langer-Giedion Syndrome (4)
Larsen Syndrome@ (2)
Laurence-Moon Syndrome (3)

Leber's Congenital Amaurosis@ (7)
Leigh's@ (4)
Lesch-Nyhan Syndrome@ (2)
Leukodystrophy@ (22)
Lissencephaly@ (3)
Loeys-Dietz Syndrome (6)
Lowe Syndrome (3)
Lymphedema@ (25)
Lysinuric Protein Intolerance@ (4)
Machado-Joseph@ (2)
Mannosidosis@ (3)
Maple Syrup Urine Disease@ (8)
Marfan Syndrome@ (19)
MCAD@ (6)
McArdle's@ (2)
MEB Disease@ (3)
Meckel-Gruber Syndrome (2)
Menkes' Syndrome@ (5)
Mobius Syndrome@ (2)
Mucolipidosis@ (3)
Mucolipidosis Type IV@ (3)
Mulibrey Nanism@ (3)
Multiple Hereditary Exostoses@ (5)
Muscular Dystrophies@ (53)
Myotonic Dystrophy@ (1)
Nail Patella Syndrome@ (6)
Narcolepsy@ (11)
Nasu-Hakola Disease (3)
Neurofibromatosis@ (13)
Niemann-Pick@ (7)
Noonan Syndrome (6)
Opitz Syndrome (3)
Oral-facial-digital Syndrome@ (3)
Osteogenesis Imperfecta@ (11)
Osteopetrosis@ (7)
Pallister Killian Mosaic Syndrome (5)
Pallister-Hall Syndrome (4)
PEHO Syndrome@ (5)
Phenylketonuria@ (6)
Pitt-Hopkins (0)
Polycystic Kidney@ (9)
Popliteal Pterygium Syndrome (1)
Porphyrias@ (10)
Prader-Willi Syndrome (13)
Progeria@ (12)
Progeria (12)
Propionic Acidemia@ (5)
Proteus Syndrome (6)
Prune Belly Syndrome@ (3)
Pseudoxanthoma Elasticum@ (6)
Raine Syndrome@ (5)
RAPADILINO Syndrome@ (4)
Refsum's@ (3)
Retinoblastoma@ (21)
Retinoschisis@ (5)
Rett's Syndrome@ (15)
Robinow Syndrome@ (3)
Rubinstein-Taybi Syndrome (7)
Russell Silver Syndrome@ (5)
Sanfilippo Syndrome@ (5)
Schizencephaly@ (3)
Shwachman Syndrome (8)
Sickle Cell@ (14)
Smith Lemli Opitz Syndrome@ (4)
Smith-Magenis Syndrome (4)
Sotos Syndrome@ (5)
Spinal Muscular Atrophy@ (14)
Stickler's Syndrome@ (10)
Sturge-Weber Syndrome@ (5)
Sturge-Weber Syndrome (4)
Tay-Sachs@ (5)
Thalassemia@ (15)
Thrombocytopenia Absent Radius Syndrome@ (4)
Tourette Syndrome@ (44)
Treacher Collins Syndrome@ (7)
Trichothiodystrophy@ (7)
Triploidy (2)
Tuberous Sclerosis@ (13)
Turner Syndrome@ (15)
Tyrosinemia@ (2)
Unverricht-Lundborg Disease@ (2)
Urea Cycle Disorders@ (1)
Usher Syndrome@ (5)
VACTERL Association (14)
VATER Syndrome@ (14)
Velo-Cardio-Facial Syndrome (4)
Von Hippel-Lindau (5)
Waardenburg Syndrome (2)
WAGR Syndrome@ (6)
Weaver Syndrome (2)
Williams Syndrome@ (16)
Wilson's Disease@ (10)
Wolf-Hirschhorn Syndrome@ (6)
Xeroderma Pigmentosum@ (9)
Zellweger Syndrome@ (6)

Cardiac@ (31)
Cardiovascular@ (5)
Metabolic@ (458)

Musculoskeletal@ (168)
Neurological@ (91)
Urological@ (12)

See also:

This category in other languages:

Danish (6)
Dutch (27)
French (170)
German (84)
Italian (34)
Japanese (23)
Polish (7)
Spanish (46)
Swedish (2)
Turkish (2)

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.
Center for Jewish Genetics - A critical effort to provide public and professional education for many of the identified Jewish genetic disorders. Find info on screening and counseling, advocacy, events and community resources.
Genetic Diseases - Provides information on a number of genetic and rare diseases.
Genetic Disorders: The Links to Diet - Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis.
Genetic and Rare Conditions - Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
IMMD Institute of Medical Molecular Diagnostics Ltd. - The IMMD is a genetic testing laboratory located in Germany. Provides genetic tests for hereditary breast cancer, various cardiovascular diseases or diseases with onset in childhood.
Information on Trisomy 13 - Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease.
MECP2 Duplication Syndrome - Provides information and support for families affected by this genetic condition first discovered in 2005.
Mitoblog - Blog about mitochondrial disease.
Primary Ciliary Dyskinesia - Information on a rare congenital disease.
What Malformation Did El Greco Paint? - El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it?
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.
Your Genes, Your Health - The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
Who was Peter the Wild Boy? - The BBC reports that on Peter, who had been found living alone and naked in a German forest in 1725, was brought to London by George I where he became a ‘human pet’ at Kensington Palace. In 2011 his cases was retrospectively diagnosed as Pitt-Hopkins. (August 08, 2011)
New Scientist: Heroin Addiction Gene Identified and Blocked - Scientists have not only identified a critical gene involved in heroin addiction relapse, but they have also successfully blocked it, eliminating cravings for the drug. (May 31, 2005)

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Last update: Tuesday, March 12, 2013 5:06:13 PM EDT - edit