Genetic Disorders Conditions and Diseases Health

Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.

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Genetic Disorders

Metabolic@ Lesch-Nyhan Syndrome Cockayne Syndrome@ Gilbert's Syndrome Spinal Muscular Atrophy@ WAGR Syndrome@ Treacher Collins Syndrome@ Menkes' Syndrome@ Alkaptonuria Incontinentia Pigmenti Leukodystrophy@ Fatty Oxidation MEB Disease Autism@ Congenital Lactase Deficiency@ Support Groups@ Tourette Syndrome@ Genetics Education@ Niemann-Pick@ Retinoblastoma@ Sickle Cell@ Arthrogryposis@ Zellweger Syndrome McArdle's Dwarfism@ Currarino Syndrome Thrombocytopenia Absent Radius Syndrome Dubowitz Syndrome Alpha-1 Antitrypsin Deficiency Huntington's@ Down Syndrome Glycogen Storage Disease Type II@ Klinefelter Syndrome Hemihypertrophy Thalassemia@ Familial Hypercholesterolemia Cohen Syndrome Bloom Syndrome Von Hippel-Lindau Cowden Syndrome Pallister Killian Mosaic Syndrome Aarskog Syndrome Cystinosis@ Albinism@ Rubinstein-Taybi Syndrome@ Myotonic Dystrophy@ Stickler's Syndrome@ Cornea Plana Congenita@ Tuberous Sclerosis@ Alfi's Syndrome Maple Syrup Urine Disease@ Alstrom Syndrome@ Waardenburg Syndrome Wilson's Disease@ Choroideremia@ Lysinuric Protein Intolerance@ Sanfilippo Syndrome Beckwith-Wiedemann Syndrome Mucolipidosis Type IV@ Costello Syndrome Hydrolethalus Syndrome Congenital Pain Insensitivity@ Sturge-Weber Syndrome Aspartylglucosaminuria@ Aicardi Syndrome@ Meckel-Gruber Syndrome Cardiac@ Opitz Syndrome Gene Therapy@ Familial Dysautonomia@ Glutaricaciduria Freeman-Sheldon Syndrome@ Propionic Acidemia Cleidocranial Dysplasia@ Alagille Syndrome Xeroderma Pigmentosum Organizations GRACILE Syndrome@ Pseudoxanthoma Elasticum Osteogenesis Imperfecta@ Smith-Magenis Syndrome Ellis-van Creveld Syndrome@ Langer-Giedion Syndrome@ Alopecia Areata@ Robinow Syndrome Tay-Sachs@ Aase Syndrome Noonan Syndrome RAPADILINO Syndrome Usher Syndrome Musculoskeletal@ Gaucher's@ Nasu-Hakola Disease Bardet-Biedl Syndrome@ Hemochromatosis PEHO Syndrome@ Imerslund-Grasbeck Syndrome@

Imerslund-Grasbeck Syndrome@ Multiple Hereditary Exostoses@ Leber's Congenital Amaurosis@ Ehlers-Danlos Syndrome@ Cri du Chat Syndrome@ Muscular Dystrophies@ Hereditary Spastic Paraplegia Floating-Harbor Syndrome Cerebrocostomandibular Syndrome@ Polycystic Kidney@ Mobius Syndrome Hydrocephalus@ Familial Mediterranean Fever@ Adie Syndrome@ Genetic Testing and Counseling@ Ataxia@ Porphyrias@ Phenylketonuria@ Neurofibromatosis@ Neurological@ Rett's Syndrome@ Machado-Joseph Acoustic Neuroma@ Prader-Willi Syndrome Fragile X Syndrome Refsum's@ Velo-Cardio-Facial Syndrome Lowe Syndrome Urea Cycle Prune Belly Syndrome Russell Silver Syndrome Shwachman Syndrome Wolf-Hirschhorn Syndrome Mulibrey Nanism Turner Syndrome Lymphedema@ Celiac@ Hemophilia@ Retinoschisis@ Fanconi Anemia@ Human Genetics@ Pallister-Hall Syndrome Barth Syndrome@ Ectodermal Dysplasia Personal Pages Canavan@ Adrenal Hyperplasia@ Fuchs' Dystrophy@ Joubert Syndrome Cardiovascular@ Hailey-Hailey Disease Weaver Syndrome Epidermolysis Bullosa Charcot-Marie-Tooth Disease@ Laurence-Moon Syndrome Schizencephaly Hallervorden-Spatz Syndrome@ Klippel-Feil Syndrome@ Leigh's@ Popliteal Pterygium Syndrome Branchio-Oto-Renal Syndrome Craniofrontonasal Dysplasia Unverricht-Lundborg Disease@ Cystic Fibrosis Williams Syndrome Apert Syndrome@ Coffin Lowry Syndrome Narcolepsy@ Sirenomelia Larsen Syndrome@ DiGeorge Syndrome Cornelia De Lange Syndrome@ Ablepharon-Macrostomia Syndrome Trichothiodystrophy Familial Erythromelalgia@ Homocystinuria@ Jacobsen Syndrome@ Proteus Syndrome Soto's Syndrome Galactosemia@ Progeria@ Factor V Leiden@ Lissencephaly@ Urological@ Nail Patella Syndrome VATER Syndrome@ Adrenoleukodystrophy@ Marfan Syndrome@ Hereditary Angioedema Friedreich Ataxia@ Crigler-Najjar Syndrome Smith Lemli Opitz Syndrome Mannosidosis Loeys-Dietz Syndrome Angelman Syndrome@ Tyrosinemia@ Batten Disease

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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.

• Information on Trisomy 13 - Discusses medical information on this chromosome abnormality, including the doctor\'s conditions and diseases personal experience with this rare disease.
• 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.
• Your Genes, Your Health - The DNA Learning Center\\'s multimedia guide to genetic health disorders. Complete health in depth articles about each disease health listed.
• Genetic Disorders: The Links to Diet - Explores the role of diet in birth defects genetic disorders and genetic disorders genetic disorders. Includes nutritional links to disorders genetic disorders such as genetic disorders Down syndrome, cerebral palsy, homocystinuria, and genetic disorders cystic fibrosis.
• What malformation did El Greco paint? - El Greco’s faces are modelled on a child with a conditions and diseases distinctive malformation. But what condition is it?
• The Center For Jewish Genetics Disorders - A critical effort to provide public and professional education for conditions and diseases many of the identified Jewish genetic disorders. Find info on conditions and diseases screening and counseling, advocacy, events and community resources.
• 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.
• Genetic and Rare Conditions - Lay advocacy groups, support groups, information on genetic health conditions and health birth defects for professionals, educators and health individuals. Disorders from A-Z.
• XLH Network - Patient support group for XLH, a genetic condition conditions and diseases genetic disorders also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, conditions and diseases genetic disorders Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
• 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.
• Primary Ciliary Dyskinesia - Information on a rare congenital disease.
• Blepharophimosis Ptosis Epicanthus Inversus Syndrome - The BPEI (BPES) Family Network encourages people to get in genetic disorders touch with each other, share information and ask questions. Explanation genetic disorders of this rare eye disorder.

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