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Genetic Disorders

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@ (12)
Alfi's Syndrome (2)
Alkaptonuria (4)
Alopecia Areata@ (13)
Alpha-1 Antitrypsin Deficiency (11)
Alstrom Syndrome@ (3)
Angelman Syndrome@ (20)
Apert Syndrome@ (10)
Arthrogryposis@ (64)
Aspartylglucosaminuria@ (3)
Ataxia@ (8)
Autism@ (541)
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@ (56)
Cerebrocostomandibular Syndrome@ (2)
Charcot-Marie-Tooth Disease@ (7)
Choroideremia@ (4)
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 (127)
Cystinosis@ (8)
DiGeorge Syndrome (4)
Down Syndrome (101)
Dubowitz Syndrome (3)
Dwarfism@ (29)
Ectodermal Dysplasia (6)
Ehlers-Danlos Syndrome@ (28)
Ellis-van Creveld Syndrome@ (5)
Epidermolysis Bullosa (17)
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@ (5)
GRACILE Syndrome@ (3)
Hailey-Hailey Disease (4)
Hallervorden-Spatz Syndrome@ (3)
Hemihypertrophy (3)
Hemochromatosis (25)
Hemophilia@ (27)
Hereditary Angioedema (6)
Hereditary Spastic Paraplegia (7)
Homocystinuria@ (2)
Huntington's@ (27)
Hydrocephalus@ (41)
Hydrolethalus Syndrome (4)
Imerslund-Grasbeck Syndrome@ (2)
Incontinentia Pigmenti (7)
Jacobsen Syndrome@ (0)
Joubert Syndrome (7)
Klinefelter Syndrome (9)

Klippel-Feil Syndrome@ (7)
Langer-Giedion Syndrome@ (2)
Larsen Syndrome@ (4)
Laurence-Moon Syndrome (3)
Leber's Congenital Amaurosis@ (10)
Leigh's@ (4)
Lesch-Nyhan Syndrome (1)
Leukodystrophy@ (26)
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@ (25)
McArdle's (1)
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@ (64)
Myotonic Dystrophy@ (4)
Nail Patella Syndrome (5)
Narcolepsy@ (20)
Nasu-Hakola Disease (3)
Neurofibromatosis@ (16)
Niemann-Pick@ (4)
Noonan Syndrome (8)
Opitz Syndrome (5)
Osteogenesis Imperfecta@ (14)
Pallister Killian Mosaic Syndrome (9)
Pallister-Hall Syndrome (3)
PEHO Syndrome@ (5)
Phenylketonuria@ (9)
Polycystic Kidney@ (14)
Popliteal Pterygium Syndrome (1)
Porphyrias@ (14)
Prader-Willi Syndrome (9)
Progeria@ (10)
Propionic Acidemia (5)
Proteus Syndrome (5)
Prune Belly Syndrome (2)
Pseudoxanthoma Elasticum (5)
RAPADILINO Syndrome (3)
Refsum's@ (3)
Retinoblastoma@ (24)
Retinoschisis@ (7)
Rett's Syndrome@ (19)
Robinow Syndrome (4)
Rubinstein-Taybi Syndrome@ (4)
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@ (4)
Sturge-Weber Syndrome (4)
Tay-Sachs@ (4)
Thalassemia@ (21)
Thrombocytopenia Absent Radius Syndrome (3)
Tourette Syndrome@ (57)
Treacher Collins Syndrome@ (4)
Trichothiodystrophy (10)
Tuberous Sclerosis@ (12)
Turner Syndrome (13)
Tyrosinemia@ (2)
Unverricht-Lundborg Disease@ (3)
Urea Cycle (2)
Usher Syndrome (2)
VATER Syndrome@ (18)
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 (8)
Xeroderma Pigmentosum (6)
Zellweger Syndrome (7)

Gene Therapy@ (69)
Genetic Testing and Counseling@ (24)
Genetics Education@ (17)
Human Genetics@ (227)

See also:

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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