1 - 15 of 1,250,769 for genetic disorders
Sub-Categories
- Aarskog Syndrome
- Aase Syndrome
- Ablepharon-Macrostomia Syndrome
- Alagille Syndrome
- Alfi's Syndrome
- Alkaptonuria
- Alpha-1 Antitrypsin Deficiency
- Batten Disease
- Beckwith-Wiedemann Syndrome
- Bloom Syndrome
- Branchio-Oto-Renal Syndrome
- Coffin Lowry Syndrome
- Cohen Syndrome
- Costello Syndrome
- Cowden Syndrome
- Craniofrontonasal Dysplasia
- Crigler-Najjar Syndrome
- Currarino Syndrome
- Cystic Fibrosis
- DiGeorge Syndrome
- Down Syndrome
- Dubowitz Syndrome
- Ectodermal Dysplasia
- Epidermolysis Bullosa
- Familial Hypercholesterolemia
- Fatty Oxidation
- Floating-Harbor Syndrome
- Fragile X Syndrome
- Gilbert's Syndrome
- Glutaricaciduria
- Hailey-Hailey Disease
- Hemihypertrophy
- Hemochromatosis
- Hereditary Angioedema
- Hereditary Spastic Paraplegia
- Hydrolethalus Syndrome
- Incontinentia Pigmenti
- Joubert Syndrome
- Klinefelter Syndrome
- Laurence-Moon Syndrome
- Lesch-Nyhan Syndrome
- Loeys-Dietz Syndrome
- Lowe Syndrome
- Machado-Joseph
- Mannosidosis
- McArdle's
- MEB Disease
- Meckel-Gruber Syndrome
- Mobius Syndrome
- Mulibrey Nanism
- Nail Patella Syndrome
- Nasu-Hakola Disease
- Noonan Syndrome
- Opitz Syndrome
- Pallister Killian Mosaic Syndrome
- Pallister-Hall Syndrome
- Popliteal Pterygium Syndrome
- Prader-Willi Syndrome
- Propionic Acidemia
- Proteus Syndrome
- Prune Belly Syndrome
- Pseudoxanthoma Elasticum
- RAPADILINO Syndrome
- Robinow Syndrome
- Russell Silver Syndrome
- Sanfilippo Syndrome
- Schizencephaly
- Shwachman Syndrome
- Sirenomelia
- Smith Lemli Opitz Syndrome
- Smith-Magenis Syndrome
- Soto's Syndrome
- Sturge-Weber Syndrome
- Thrombocytopenia Absent Radius Syndrome
- Trichothiodystrophy
- Turner Syndrome
- Urea Cycle
- Usher Syndrome
- Velo-Cardio-Facial Syndrome
- Von Hippel-Lindau
- Waardenburg Syndrome
- Weaver Syndrome
- Williams Syndrome
- Wolf-Hirschhorn Syndrome
- Xeroderma Pigmentosum
- Zellweger Syndrome
Related Categories
- Acoustic Neuroma
- Adie Syndrome
- Adrenal Hyperplasia
- Adrenoleukodystrophy
- Aicardi Syndrome
- Albinism
- Alopecia Areata
- Alstrom Syndrome
- Angelman Syndrome
- Apert Syndrome
- Arthrogryposis
- Aspartylglucosaminuria
- Ataxia
- Autism
- Bardet-Biedl Syndrome
- Barth Syndrome
- Canavan
- Celiac
- Cerebrocostomandibular Syndrome
- Charcot-Marie-Tooth Disease
- Choroideremia
- Cleidocranial Dysplasia
- Cockayne Syndrome
- Congenital Lactase Deficiency
- Congenital Pain Insensitivity
- Cornea Plana Congenita
- Cornelia De Lange Syndrome
- Cri du Chat Syndrome
- Cystinosis
- Dwarfism
- Ehlers-Danlos Syndrome
- Ellis-van Creveld Syndrome
- Factor V Leiden
- Familial Dysautonomia
- Familial Erythromelalgia
- Familial Mediterranean Fever
- Fanconi Anemia
- Freeman-Sheldon Syndrome
- Friedreich Ataxia
- Fuchs' Dystrophy
- Galactosemia
- Gaucher's
- Glycogen Storage Disease Type II
- GRACILE Syndrome
- Hallervorden-Spatz Syndrome
- Hemophilia
- Homocystinuria
- Huntington's
- Hydrocephalus
- Imerslund-Grasbeck Syndrome
- Jacobsen Syndrome
- Klippel-Feil Syndrome
- Langer-Giedion Syndrome
- Larsen Syndrome
- Leber's Congenital Amaurosis
- Leigh's
- Leukodystrophy
- Lissencephaly
- Lymphedema
- Lysinuric Protein Intolerance
- Maple Syrup Urine Disease
- Marfan Syndrome
- Menkes' Syndrome
- Mucolipidosis Type IV
- Multiple Hereditary Exostoses
- Muscular Dystrophies
- Myotonic Dystrophy
- Narcolepsy
- Neurofibromatosis
- Niemann-Pick
- Osteogenesis Imperfecta
- PEHO Syndrome
- Phenylketonuria
- Polycystic Kidney
- Porphyrias
- Progeria
- Refsum's
- Retinoblastoma
- Retinoschisis
- Rett's Syndrome
- Rubinstein-Taybi Syndrome
- Sickle Cell
- Spinal Muscular Atrophy
- Stickler's Syndrome
- Tay-Sachs
- Thalassemia
- Tourette Syndrome
- Treacher Collins Syndrome
- Tuberous Sclerosis
- Tyrosinemia
- Unverricht-Lundborg Disease
- VATER Syndrome
- WAGR Syndrome
- Wilson's Disease
- Cardiac
- Cardiovascular
- Metabolic
- Musculoskeletal
- Neurological
- Urological
- Gene Therapy
- Genetic Testing and Counseling
- Genetics Education
- Human Genetics
- Support Groups
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Explains a gene defect of mitochondrial DNA which causes several diseases, including maternally inherited diabetes with deafness. Features a newsletter, patient forum and definitions.
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.
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.
Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
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.
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.
Discusses medical information on this chromosome abnormality, including the doctor's personal experience with this rare disease.
El Greco’s faces are modelled on a child with a distinctive malformation. But what condition is it?
Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
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