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Aarskog Syndrome (4)
Aase Syndrome (3)
Ablepharon-Macrostomia Syndrome (4)
Acoustic Neuroma@ (15)
Adie Syndrome@ (3)
Adrenal Hyperplasia@ (6)
Adrenoleukodystrophy@ (6)
Aicardi Syndrome@ (7)
Alagille Syndrome (7)
Albinism@ (11)
Alfi's Syndrome (2)
Alkaptonuria (4)
Alopecia Areata@ (13)
Alpha-1 Antitrypsin Deficiency (11)
Alstrom Syndrome@ (3)
Angelman Syndrome@ (20)
Apert Syndrome@ (9)
Arthrogryposis@ (49)
Aspartylglucosaminuria@ (3)
Ataxia@ (8)
Autism@ (525)
Bardet-Biedl Syndrome@ (3)
Barth Syndrome@ (3)
Batten Disease (7)
Beckwith-Wiedemann Syndrome (7)
Bloom Syndrome (5)
Branchio-Oto-Renal Syndrome (6)
Canavan@ (4)
Celiac@ (58)
Cerebrocostomandibular Syndrome@ (2)
Charcot-Marie-Tooth Disease@ (7)
Choroideremia@ (3)
Cleidocranial Dysplasia@ (3)
Cockayne Syndrome@ (3)
Coffin Lowry Syndrome (4)
Cohen Syndrome (4)
Congenital Lactase Deficiency@ (2)
Congenital Pain Insensitivity@ (0)
Cornea Plana Congenita@ (2)
Cornelia De Lange Syndrome@ (4)
Costello Syndrome (2)
Cowden Syndrome (3)
Craniofrontonasal Dysplasia (3)
Cri du Chat Syndrome@ (4)
Crigler-Najjar Syndrome (7)
Currarino Syndrome (3)
Cystic Fibrosis (118)
Cystinosis@ (8)
DiGeorge Syndrome (4)
Down Syndrome (96)
Dubowitz Syndrome (3)
Dwarfism@ (29)
Ectodermal Dysplasia (5)
Ehlers-Danlos Syndrome@ (27)
Ellis-van Creveld Syndrome@ (5)
Epidermolysis Bullosa (16)
Factor V Leiden@ (4)
Familial Dysautonomia@ (8)
Familial Erythromelalgia@ (3)
Familial Hypercholesterolemia (1)
Familial Mediterranean Fever@ (8)
Fanconi Anemia@ (12)
Fatty Oxidation (5)
Floating-Harbor Syndrome (4)
Fragile X Syndrome (12)
Freeman-Sheldon Syndrome@ (5)
Friedreich Ataxia@ (12)
Fuchs' Dystrophy@ (4)
Galactosemia@ (5)
Gaucher's@ (13)
Gilbert's Syndrome (10)
Glutaricaciduria (3)
Glycogen Storage Disease Type II@ (4)
GRACILE Syndrome@ (3)
Hailey-Hailey Disease (4)
Hallervorden-Spatz Syndrome@ (3)
Hemihypertrophy (3)
Hemochromatosis (25)
Hemophilia@ (26)
Hereditary Angioedema (6)
Hereditary Spastic Paraplegia (7)
Homocystinuria@ (2)
Huntington's@ (25)
Hydrocephalus@ (42)
Hydrolethalus Syndrome (4)
Imerslund-Grasbeck Syndrome@ (2)
Incontinentia Pigmenti (7)
Jacobsen Syndrome@ (0)
Joubert Syndrome (7)
Klinefelter Syndrome (9)

Klippel-Feil Syndrome@ (6)
Langer-Giedion Syndrome@ (2)
Larsen Syndrome@ (4)
Laurence-Moon Syndrome (3)
Leber's Congenital Amaurosis@ (9)
Leigh's@ (4)
Lesch-Nyhan Syndrome (1)
Leukodystrophy@ (25)
Lissencephaly@ (5)
Loeys-Dietz Syndrome (5)
Lowe Syndrome (2)
Lymphedema@ (25)
Lysinuric Protein Intolerance@ (5)
Machado-Joseph (3)
Mannosidosis (2)
Maple Syrup Urine Disease@ (10)
Marfan Syndrome@ (24)
McArdle's (0)
MEB Disease (3)
Meckel-Gruber Syndrome (2)
Menkes' Syndrome@ (6)
Mobius Syndrome (5)
Mucolipidosis Type IV@ (4)
Mulibrey Nanism (2)
Multiple Hereditary Exostoses@ (6)
Muscular Dystrophies@ (63)
Myotonic Dystrophy@ (4)
Nail Patella Syndrome (4)
Narcolepsy@ (18)
Nasu-Hakola Disease (3)
Neurofibromatosis@ (15)
Niemann-Pick@ (4)
Noonan Syndrome (8)
Opitz Syndrome (4)
Osteogenesis Imperfecta@ (14)
Pallister Killian Mosaic Syndrome (9)
Pallister-Hall Syndrome (3)
PEHO Syndrome@ (5)
Phenylketonuria@ (9)
Polycystic Kidney@ (13)
Popliteal Pterygium Syndrome (1)
Porphyrias@ (13)
Prader-Willi Syndrome (9)
Progeria@ (10)
Propionic Acidemia (5)
Proteus Syndrome (5)
Prune Belly Syndrome (2)
Pseudoxanthoma Elasticum (5)
RAPADILINO Syndrome (2)
Refsum's@ (3)
Retinoblastoma@ (24)
Retinoschisis@ (6)
Rett's Syndrome@ (19)
Robinow Syndrome (4)
Rubinstein-Taybi Syndrome@ (6)
Russell Silver Syndrome (3)
Sanfilippo Syndrome (7)
Schizencephaly (1)
Shwachman Syndrome (7)
Sickle Cell@ (19)
Sirenomelia (6)
Smith Lemli Opitz Syndrome (3)
Smith-Magenis Syndrome (3)
Soto's Syndrome (5)
Spinal Muscular Atrophy@ (16)
Stickler's Syndrome@ (3)
Sturge-Weber Syndrome (4)
Tay-Sachs@ (4)
Thalassemia@ (21)
Thrombocytopenia Absent Radius Syndrome (3)
Tourette Syndrome@ (56)
Treacher Collins Syndrome@ (4)
Trichothiodystrophy (10)
Tuberous Sclerosis@ (11)
Turner Syndrome (13)
Tyrosinemia@ (2)
Unverricht-Lundborg Disease@ (3)
Urea Cycle (2)
Usher Syndrome (2)
VATER Syndrome@ (17)
Velo-Cardio-Facial Syndrome (5)
Von Hippel-Lindau (4)
Waardenburg Syndrome (2)
WAGR Syndrome@ (3)
Weaver Syndrome (2)
Williams Syndrome (17)
Wilson's Disease@ (11)
Wolf-Hirschhorn Syndrome (7)
Xeroderma Pigmentosum (6)
Zellweger Syndrome (7)

Gene Therapy@ (69)
Genetic Testing and Counseling@ (30)
Genetics Education@ (19)
Human Genetics@ (246)

See also:

This category in other languages:

Danish (12) Dutch (25) French (56)
German (89) Italian (39) Japanese (29)
Polish (18) Spanish (51) Swedish (2)
Turkish (3)

» 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.

» A3243G - Explains a gene defect of mitochondrial DNA which causes several diseases, including maternally inherited diabetes with deafness. Features a newsletter, patient forum and definitions.

» Blepharophimosis Ptosis Epicanthus Inversus Syndrome - The BPEI (BPES) Family Network encourages people to get in touch with each other, share information and ask questions. Explanation of this rare eye disorder.

» 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.

» 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.

» 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.

» 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.

» 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.

» 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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