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Genetic_Disorders
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Categories:
Aarskog Syndrome
(6)
Leigh's
*(4)
Aase Syndrome
(4)
Lesch-Nyhan Syndrome
(5)
Ablepharon-Macrostomia Syndrome
(4)
Leukodystrophy
*(28)
Acoustic Neuroma
*(13)
Lissencephaly
*(5)
Adie Syndrome
*(6)
Lowe Syndrome
(5)
Adrenal Hyperplasia
*(17)
Lymphedema
*(33)
Adrenoleukodystrophy
*(11)
Machado-Joseph
(5)
Aicardi Syndrome
*(8)
Mannosidosis
(2)
Alagille Syndrome
(5)
Marfan Syndrome
*(18)
Albinism
*(12)
McArdle's
(4)
Alkaptonuria
(5)
Meckel-Gruber Syndrome
(5)
Alopecia Areata
*(18)
Menkes' Syndrome
*(8)
Alpha-1 Antitrypsin Deficiency
(8)
Mobius Syndrome
(6)
Alstrom Syndrome
*(4)
Multiple Hereditary Exostoses
*(7)
Angelman Syndrome
*(16)
Muscular Dystrophies
*(44)
Apert Syndrome
*(10)
Myotonic Dystrophy
*(4)
Arthrogryposis
*(79)
Nail Patella Syndrome
(10)
Ataxia
*(9)
Narcolepsy
*(28)
Autism
*(578)
Neurofibromatosis
*(17)
Bardet-Biedl Syndrome
*(4)
Niemann-Pick
*(5)
Barth Syndrome
*(3)
Noonan Syndrome
(5)
Batten
(8)
Opitz Syndrome
(5)
Beckwith-Wiedemann Syndrome
(6)
Organizations
(5)
Canavan
*(4)
Osteogenesis Imperfecta
*(7)
Celiac
*(37)
Pallister-Hall Syndrome
(4)
Cerebrocostomandibular Syndrome
*(5)
Pallister Killian Mosaic Syndrome
(3)
Charcot-Marie-Tooth Disease
*(4)
Personal Pages
(9)
Cleidocranial Dysplasia
*(6)
Phenylketonuria
*(5)
Cockayne Syndrome
*(3)
Polycystic Kidney
*(20)
Coffin Lowry Syndrome
(6)
Popliteal Pterygium Syndrome
(2)
Congenital Pain Insensitivity
*(3)
Porphyrias
*(18)
Cornelia De Lange Syndrome
*(5)
Prader-Willi Syndrome
(9)
Costello Syndrome
(3)
Progeria
*(10)
Cowden Syndrome
(3)
Propionic Acidemia
(4)
Craniofrontonasal Dysplasia
(4)
Proteus Syndrome
(4)
Cri du Chat Syndrome
*(3)
Prune Belly Syndrome
(3)
Crigler-Najjar Syndrome
(6)
Pseudoxanthoma Elasticum
(4)
Cystic Fibrosis
(63)
Refsum's
*(5)
Cystinosis
*(5)
Retinoblastoma
*(6)
DiGeorge Syndrome
(5)
Rett's Syndrome
*(27)
Down Syndrome
(63)
Robinow Syndrome
(4)
Dubowitz Syndrome
(5)
Rubinstein-Taybi Syndrome
*(4)
Dwarfism
*(10)
Russell Silver Syndrome
(3)
Ectodermal Dysplasia
(5)
Sanfilippo Syndrome
(4)
Ehlers-Danlos Syndrome
*(13)
Schizencephaly
(3)
Factor V Leiden
*(5)
Shwachman Syndrome
(5)
Familial Dysautonomia
*(7)
Sickle Cell
*(13)
Familial Erythromelalgia
*(4)
Smith-Magenis Syndrome
(4)
Familial Hypercholesterolemia
(6)
Smith Lemli Opitz Syndrome
(3)
Fanconi Anemia
*(17)
Soto's Syndrome
(5)
Fatty Oxidation
(4)
Spina Bifida
*(37)
Floating-Harbor Syndrome
(4)
Spinal Muscular Atrophy
*(11)
Fragile X Syndrome
(16)
Stickler's Syndrome
*(4)
Friedreich Ataxia
*(4)
Sturge-Weber Syndrome
(4)
Galactosemia
*(4)
Support Groups
*(12)
Gaucher's
*(16)
Tay-Sachs
*(8)
Gene Therapy
*(65)
Thalassemia
*(27)
Genetic Testing and Counseling
*(14)
Thrombocytopenia Absent Radius Syndrome
(4)
Glutaricaciduria
(4)
Tourette Syndrome
*(64)
Hallervorden-Spatz Syndrome
*(6)
Treacher Collins Syndrome
*(5)
Hemihypertrophy
(4)
Tuberous Sclerosis
*(12)
Hemochromatosis
(14)
Turner Syndrome
(8)
Hemophilia
*(32)
Tyrosinemia
*(5)
Hereditary Angioedema
(5)
Urea Cycle
(4)
Hereditary Spastic Paraplegia
(7)
Usher Syndrome
(5)
Homocystinuria
*(4)
VATER Syndrome
*(12)
Huntington's
*(27)
Velo-Cardio-Facial Syndrome
(5)
Hydrocephalus
*(52)
Von Hippel-Lindau
(7)
Incontinentia Pigmenti
(7)
WAGR Syndrome
*(3)
Jacobsen Syndrome
*(4)
Waardenburg Syndrome
(5)
Joubert Syndrome
(6)
Weaver Syndrome
(3)
Klinefelter Syndrome
(13)
Williams Syndrome
(8)
Klippel-Feil Syndrome
*(4)
Wilson's Disease
*(14)
Langer-Giedion Syndrome
*(2)
Xeroderma Pigmentosum
(6)
Laurence-Moon Syndrome
(4)
Zellweger Syndrome
(5)
whatUseek Collection Sites
(
submit a site
)
:
CAPS Family Connections for people with Cryopyrin-Associated Periodic Syndromes (CAPs)
- Information on cryopyrin associated periodic syndromes (CAPS) and a screener survey regarding patient symptoms, including familial history of symptoms and existing diagnosis of CAPS.
CAPS Connect USA
- CAPS Connect USA - A place to connect people suffering from CAPS and its different syndromes.
MS Symptoms and Multiple Sclerosis Treatment
- Learn more about MS symptoms and treatment. Learn about multiple sclerosis, connect with an MS community and get MS caregiver support.
whatUseek Directory Site Listings:
Acid Maltase Deficiency
- A brief summary of AMD along with links and news.
Dr. Greene's HouseCalls
- A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease.
GeneClinics: Medical Genetics Knowledge Base
- NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.
Genetic and Rare Conditions Site
- Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
Primary Ciliary Dyskinesia
- Information on a rare congenital disease.
Rare Genetic Diseases In Children: An Internet Resource Gateway
- A layman's guide to genetic diseases, and a comprehensive resource for families on lysosomal storage diseases.
Respiratory Syndromes Associated with Congenital Abnormalities of Mucociliary Clearance
- A resource providing information for physicians and patients on laboratory analyses of Primary Ciliary Dyskinesia, Immotile Cilia Syndrome, and Kartagener's Syndrome.
Washington University in St Louis
- Family resource for individuals with Papillon Lefevre, Haim-Munk Syndrome and Prepubertal Periodontis. Interested families may participate in a registry dedicated to learning about the natural history of these three conditions.
Your Genes, Your Health
- The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
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