Aarskog Syndrome  (4) Aase Syndrome  (3) Ablepharon-Macrostomia Syndrome  (3) Acoustic Neuroma@  (8) Adie Syndrome@  (3) Adrenal Hyperplasia@  (5) Adrenoleukodystrophy@  (4) Aicardi Syndrome@  (6) Alagille Syndrome  (4) Albinism@  (9) Alfi's Syndrome  (2) Alkaptonuria  (3) Alopecia Areata@  (10) Alpha-1 Antitrypsin Deficiency  (11) Alstrom Syndrome@  (3) Angelman Syndrome@  (18) Apert Syndrome@  (10) Arthrogryposis@  (27) Aspartylglucosaminuria@  (3) Ataxia@  (6) Autism@  (471) Bardet-Biedl Syndrome@  (3) Barth Syndrome@  (3) Batten Disease  (7) Beckwith-Wiedemann Syndrome  (6) Bloom Syndrome  (4) Branchio-Oto-Renal Syndrome  (4) Canavan@  (3) Celiac@  (53) 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@  (1) Congenital Pain Insensitivity@  (0) Cornea Plana Congenita@  (2) Cornelia De Lange Syndrome@  (2) Costello Syndrome  (2) Cowden Syndrome  (2) Craniofrontonasal Dysplasia  (3) Cri du Chat Syndrome@  (3) Crigler-Najjar Syndrome  (6) Currarino Syndrome  (3) Cystic Fibrosis  (92) Cystinosis@  (6) DiGeorge Syndrome  (4) Down Syndrome  (90) Dubowitz Syndrome  (3) Dwarfism@  (25) Ectodermal Dysplasia  (5) Ehlers-Danlos Syndrome@  (24) Ellis-van Creveld Syndrome@  (4) Epidermolysis Bullosa  (13) Factor V Leiden@  (4) Familial Dysautonomia@  (7) Familial Erythromelalgia@  (3) Familial Hypercholesterolemia  (1) Familial Mediterranean Fever@  (8) Fanconi Anemia@  (14) Fatty Oxidation  (4) Floating-Harbor Syndrome  (4) Fragile X Syndrome  (10) Freeman-Sheldon Syndrome@  (5) Friedreich Ataxia@  (12) Fuchs' Dystrophy@  (4) Galactosemia@  (4) Gaucher's@  (7) Gilbert's Syndrome  (7) Glutaricaciduria  (2) Glycogen Storage Disease Type II@  (4) GRACILE Syndrome@  (3) Hailey-Hailey Disease  (3) Hallervorden-Spatz Syndrome@  (2) Hemihypertrophy  (2) Hemochromatosis  (21) Hemophilia@  (19) Hereditary Angioedema  (6) Hereditary Spastic Paraplegia  (6) Homocystinuria@  (2) Huntington's@  (26) Hydrocephalus@  (35) Hydrolethalus Syndrome  (4) Imerslund-Grasbeck Syndrome@  (2) Incontinentia Pigmenti  (5) Jacobsen Syndrome@  (0) Joubert Syndrome  (6) Klinefelter Syndrome  (8) Klippel-Feil Syndrome@  (6)

Langer-Giedion Syndrome@  (1) Larsen Syndrome@  (3) Laurence-Moon Syndrome  (3) Leber's Congenital Amaurosis@  (9) Leigh's@  (3) Lesch-Nyhan Syndrome  (1) Leukodystrophy@  (21) Lissencephaly@  (3) Loeys-Dietz Syndrome  (4) Lowe Syndrome  (2) Lymphedema@  (22) Lysinuric Protein Intolerance@  (5) Machado-Joseph  (2) Mannosidosis  (2) Maple Syrup Urine Disease@  (10) Marfan Syndrome@  (20) McArdle's  (0) MEB Disease  (3) Meckel-Gruber Syndrome  (2) Menkes' Syndrome@  (5) Mobius Syndrome  (2) Mucolipidosis Type IV@  (4) Mulibrey Nanism  (2) Multiple Hereditary Exostoses@  (6) Muscular Dystrophies@  (52) Myotonic Dystrophy@  (4) Nail Patella Syndrome  (3) Narcolepsy@  (16) Nasu-Hakola Disease  (3) Neurofibromatosis@  (13) Niemann-Pick@  (4) Noonan Syndrome  (7) Opitz Syndrome  (4) Oral-facial-digital Syndrome@  (5) Osteogenesis Imperfecta@  (12) Pallister Killian Mosaic Syndrome  (8) Pallister-Hall Syndrome  (3) PEHO Syndrome@  (5) Phenylketonuria@  (8) Polycystic Kidney@  (10) Popliteal Pterygium Syndrome  (1) Porphyrias@  (14) Prader-Willi Syndrome  (6) Progeria@  (9) Propionic Acidemia  (5) Proteus Syndrome  (4) Prune Belly Syndrome  (2) Pseudoxanthoma Elasticum  (5) RAPADILINO Syndrome  (2) Refsum's@  (2) Retinoblastoma@  (20) Retinoschisis@  (5) Rett's Syndrome@  (15) Robinow Syndrome  (4) Rubinstein-Taybi Syndrome@  (6) Russell Silver Syndrome  (3) Sanfilippo Syndrome  (6) Schizencephaly  (1) Shwachman Syndrome  (7) Sickle Cell@  (13) Sirenomelia  (6) Smith Lemli Opitz Syndrome  (3) Smith-Magenis Syndrome  (3) Soto's Syndrome  (2) Spinal Muscular Atrophy@  (13) Stickler's Syndrome@  (13) Sturge-Weber Syndrome  (3) Tay-Sachs@  (4) Thalassemia@  (20) Thrombocytopenia Absent Radius Syndrome  (2) Tourette Syndrome@  (47) Treacher Collins Syndrome@  (6) Trichothiodystrophy  (10) Tuberous Sclerosis@  (11) Turner Syndrome  (12) Tyrosinemia@  (1) Unverricht-Lundborg Disease@  (3) Urea Cycle  (2) Usher Syndrome  (10) VATER Syndrome@  (15) Velo-Cardio-Facial Syndrome  (5) Von Hippel-Lindau  (4) Waardenburg Syndrome  (2) WAGR Syndrome@  (3) Weaver Syndrome  (2) Williams Syndrome  (18) Wilson's Disease@  (9) Wolf-Hirschhorn Syndrome  (7) Xeroderma Pigmentosum  (6) Zellweger Syndrome  (4)

See also:

• Health: Conditions and Diseases: Congenital Anomalies  (89)
• Health: Conditions and Diseases: Rare Disorders  (110)

This category in other languages:
	Danish  (9)   Dutch  (23)   French  (59)   German  (84)   Italian  (43)   Japanese  (28)   Polish  (14)   Spanish  (45)   Swedish  (1)   Turkish  (4)

• 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.

• 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.
• 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)

Help build the largest human-edited directory on the web. Submit a Site - Open Directory Project - Become an Editor