Health: Conditions and Diseases: Genetic Disorders

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: Health
: Conditions and Diseases
: Genetic Disorders (311)

Leber's Congenital Amaurosis@ (8)
Leigh's@ (3)
Lesch-Nyhan Syndrome@ (2)
Leukodystrophy@ (22)
Lissencephaly@ (3)
Loeys-Dietz Syndrome (6)
Lowe Syndrome (2)
Lymphedema@ (26)
Lysinuric Protein Intolerance@ (5)
Machado-Joseph@ (2)
Mannosidosis@ (3)
Maple Syrup Urine Disease@ (9)
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@ (54)
Myotonic Dystrophy@ (3)
Nail Patella Syndrome@ (6)
Narcolepsy@ (14)
Nasu-Hakola Disease (3)
Neurofibromatosis@ (14)
Niemann-Pick@ (7)
Noonan Syndrome (9)
Opitz Syndrome (3)
Oral-facial-digital Syndrome@ (4)
Osteogenesis Imperfecta@ (11)
Osteopetrosis@ (7)
Pallister Killian Mosaic Syndrome (6)
Pallister-Hall Syndrome (4)
PEHO Syndrome@ (5)
Phenylketonuria@ (8)
Polycystic Kidney@ (10)
Popliteal Pterygium Syndrome (1)
Porphyrias@ (12)
Prader-Willi Syndrome (14)
Progeria@ (12)
Progeria (12)
Propionic Acidemia@ (5)
Proteus Syndrome (7)
Prune Belly Syndrome@ (3)
Pseudoxanthoma Elasticum@ (6)
Raine Syndrome@ (5)
RAPADILINO Syndrome@ (4)
Refsum's@ (3)
Retinoblastoma@ (21)
Retinoschisis@ (5)
Rett's Syndrome@ (16)
Robinow Syndrome@ (3)
Rubinstein-Taybi Syndrome (8)
Russell Silver Syndrome@ (6)
Sanfilippo Syndrome@ (5)
Schizencephaly@ (3)
Shwachman Syndrome (9)
Sickle Cell@ (14)
Smith Lemli Opitz Syndrome@ (4)
Smith-Magenis Syndrome (5)
Sotos Syndrome@ (5)
Spinal Muscular Atrophy@ (15)
Stickler's Syndrome@ (10)
Sturge-Weber Syndrome@ (5)
Sturge-Weber Syndrome (4)
Tay-Sachs@ (5)
Thalassemia@ (15)
Thrombocytopenia Absent Radius Syndrome@ (4)
Tourette Syndrome@ (49)
Treacher Collins Syndrome@ (9)
Trichothiodystrophy@ (9)
Triploidy (2)
Tuberous Sclerosis@ (13)
Turner Syndrome@ (15)
Tyrosinemia@ (2)
Unverricht-Lundborg Disease@ (2)
Urea Cycle Disorders@ (1)
Usher Syndrome@ (7)
VACTERL Association (15)
VATER Syndrome@ (15)
Velo-Cardio-Facial Syndrome (4)
Von Hippel-Lindau (5)
Waardenburg Syndrome (2)
WAGR Syndrome@ (6)
Weaver Syndrome (2)
Williams Syndrome@ (17)
Wilson's Disease@ (10)
Wolf-Hirschhorn Syndrome@ (8)
Xeroderma Pigmentosum@ (9)
Zellweger Syndrome@ (6)

Cardiac@ (33)
Cardiovascular@ (6)
Metabolic@ (468)

Musculoskeletal@ (190)
Neurological@ (83)
Urological@ (13)

See also:

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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.
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.
The Center For Jewish Genetics Disorders - 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.
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: Monday, August 15, 2011 8:35:30 PM EDT - edit