Please see also specific disorder or condition in the alphabetical listings.
Subcategories 204
- Aarskog Syndrome
- Aase Syndrome
- Ablepharon-Macrostomia Syndrome
- Acoustic Neuroma
- Adie Syndrome
- Adrenal Hyperplasia
- Adrenoleukodystrophy
- Aicardi Syndrome
- Alagille Syndrome
- Albinism
- Alfi's Syndrome
- Alkaptanuria
- Alopecia Areata
- Alpha-1 Antitrypsin Deficiency
- Angelman Syndrome
- Apert Syndrome
- Arthrogryposis
- Aspartylglucosaminuria
- Ataxia
- Autism
- Bardet-Biedl Syndrome
- Barth Syndrome
- Batten Disease
- Beckwith-Wiedemann Syndrome
- Bloom Syndrome
- Branchio-Oto-Renal Syndrome
- Brugada Syndrome
- Canavan
- Celiac
- Cerebrocostomandibular Syndrome
- Charcot-Marie-Tooth Disease
- Choroideremia
- Cleidocranial Dysplasia
- Cockayne Syndrome
- Coffin Lowry Syndrome
- Cohen Syndrome
- Congenital Lactase Deficiency
- Congenital Pain Insensitivity
- Cornea Plana Congenita
- Cornelia De Lange Syndrome
- Costello Syndrome
- Craniofrontonasal Dysplasia
- Cri du Chat Syndrome
- Crigler-Najjar Syndrome
- Currarino Syndrome
- Cystic Fibrosis
- Cystinosis
- DiGeorge Syndrome
- Down Syndrome
- Dubowitz Syndrome
- Dwarfism
- Ectodermal Dysplasia
- Ehlers-Danlos Syndrome
- Ellis-van Creveld Syndrome
- Epidermolysis Bullosa
- Factor V Leiden
- Familial Adenomatous Polyposis
- Familial Dysautonomia
- Familial Erythromelalgia
- Familial Hypercholesterolemia
- Familial Mediterranean Fever
- Fanconi Anemia
- Fatty Oxidation
- Floating-Harbor Syndrome
- Fragile X Syndrome
- Freeman-Sheldon Syndrome
- Friedreich Ataxia
- Fuchs' Dystrophy
- GRACILE Syndrome
- Galactosemia
- Gaucher's
- Gilbert's Syndrome
- Glutaricaciduria
- Glycogen Storage Disease Type II
- Hailey-Hailey Disease
- Hallervorden-Spatz Syndrome
- Hemihypertrophy
- Hemochromatosis
- Hemophilia
- Hereditary Angioedema
- Hereditary Spastic Paraplegia
- Homocystinuria
- Huntington's
- Hutchinson-Gilford Progeria Syndrome
- Hydrocephalus
- Hydrolethalus Syndrome
- Imerslund-Grasbeck Syndrome
- Incontinentia Pigmenti
- Jacobsen Syndrome
- Joubert Syndrome
- Klinefelter Syndrome
- Klippel-Feil Syndrome
- Langer-Giedion Syndrome
- Larsen Syndrome
- Laurence-Moon Syndrome
- Leber's Congenital Amaurosis
- Leigh's
- Lesch-Nyhan Syndrome
- Leukodystrophy
- Lissencephaly
- Loeys-Dietz Syndrome
- Lowe Syndrome
- Lymphedema
- Lysinuric Protein Intolerance
- MCAD
- MEB Disease
- Machado-Joseph
- Mannosidosis
- Maple Syrup Urine Disease
- Marfan Syndrome
- McArdle's
- Meckel-Gruber Syndrome
- Menkes' Syndrome
- Mobius Syndrome
- Mucolipidosis
- Mucolipidosis Type IV
- Mulibrey Nanism
- Multiple Hereditary Exostoses
- Muscular Dystrophies
- Myotonic Dystrophy
- Nail Patella Syndrome
- Narcolepsy
- Nasu-Hakola Disease
- Neurofibromatosis
- Niemann-Pick
- Noonan Syndrome
- Opitz Syndrome
- Oral-facial-digital Syndrome
- Osteogenesis Imperfecta
- Osteopetrosis
- PEHO Syndrome
- Pallister Killian Mosaic Syndrome
- Pallister-Hall Syndrome
- Phenylketonuria
- Pitt-Hopkins
- Polycystic Kidney
- Popliteal Pterygium Syndrome
- Porphyrias
- Prader-Willi Syndrome
- Progeria
- Progeria
- Propionic Acidemia
- Proteus Syndrome
- Prune Belly Syndrome
- Pseudoxanthoma Elasticum
- RAPADILINO Syndrome
- Raine Syndrome
- Refsum's
- Retinoblastoma
- Retinoschisis
- Rett's Syndrome
- Robinow Syndrome
- Rubinstein-Taybi Syndrome
- Russell Silver Syndrome
- Sanfilippo Syndrome
- Schizencephaly
- Shwachman Syndrome
- Sickle Cell
- Smith Lemli Opitz Syndrome
- Smith-Magenis Syndrome
- Sotos Syndrome
- Spinal Muscular Atrophy
- Stickler's Syndrome
- Sturge-Weber Syndrome
- Sturge-Weber Syndrome
- Tay-Sachs
- Thalassemia
- Thrombocytopenia Absent Radius Syndrome
- Tourette Syndrome
- Treacher Collins Syndrome
- Trichothiodystrophy
- Triploidy
- Tuberous Sclerosis
- Turner Syndrome
- Tyrosinemia
- Unverricht-Lundborg Disease
- Urea Cycle Disorders
- Usher Syndrome
- VACTERL Association
- VATER Syndrome
- Velo-Cardio-Facial Syndrome
- Von Hippel-Lindau
- WAGR Syndrome
- Waardenburg Syndrome
- Weaver Syndrome
- Williams Syndrome
- Wilson's Disease
- Wolf-Hirschhorn Syndrome
- Xeroderma Pigmentosum
- Zellweger Syndrome
Related categories 2
Sites 11
- What Malformation Did El Greco Paint? El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it?
- Your Genes, Your Health The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
- 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.
- 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.
- 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.
- 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.
- Information on Trisomy 13 Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease.
- Genetic Diseases Provides information on a number of genetic and rare diseases.
- GeneTests Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.
- Center for Jewish Genetics 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.