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Genetic Conditions

  1. 5-Oxoprolinuria
  2. Aarskog Syndrome
  3. Aase Syndrome
  4. Abetalipoproteinemia
  5. Ablepharon-Macrostomia Syndrome
  6. Aceruloplasminemia
  7. Achondrogenesis
  8. Achondroplasia
  9. Acidemia Isovaleric
  10. Acidemia, Methylmalonic
  11. Acquired Lipodystrophy
  12. Acquired Von Willebrand's Disease
  13. Acrocallosal Syndrome, Schinzel Type
  14. Acrodermatitis Enteropathica
  15. Acromesomelic Dysplasia
  16. Acromicric Dysplasia
  17. ACTH Deficiency
  18. Adams Oliver Syndrome
  19. Adenylosuccinate Lyase Deficiency
  20. Adrenoleukodystrophy
  21. African Iron Overload
  22. Aicardi Syndrome
  23. Alkaptonuria
  24. Alopecia Areata: Psoralen With Ultraviolet A Light (PUVA) Therapy
  25. Alpha Thalassemia X-linked Intellectual Disability Syndrome
  26. Alpha-1 Antitrypsin Deficiency
  27. Alpha-1 Antitrypsin Deficiency Genetic Testing
  28. Alpha-Fetoprotein (AFP) in Blood
  29. Alport Syndrome
  30. Amniocentesis
  31. Andersen Disease (GSD IV)
  32. Androgen Insensitivity Syndrome, Partial
  33. Anemia, Blackfan Diamond
  34. Anemia, Hereditary Nonspherocytic Hemolytic
  35. Anemia, Hereditary Spherocytic Hemolytic
  36. Anemia, Megaloblastic
  37. Anemias, Sideroblastic
  38. Anesthesia: Malignant Hyperthermia Response
  39. Angelman Syndrome
  40. Aniridia
  41. Anodontia
  42. Antibiotics for Cystic Fibrosis
  43. Anticholinergics for Cystic Fibrosis
  44. Antifibrinolytic Agents for Hemophilia
  45. Antifibrinolytic Agents for Von Willebrand's Disease
  46. Antley Bixler Syndrome
  47. Apert Syndrome
  48. Aplasia Cutis Congenita
  49. Apolipoprotein E-4 Genetic (DNA) Test
  50. Arginase Deficiency
  51. Argininosuccinic Aciduria
  52. Ashkenazi Jewish Genetic Panel (AJGP)
  53. Aspartylglycosaminuria
  54. Ataxia Telangiectasia
  55. Ataxia with Vitamin E Deficiency
  56. Ataxia, Friedreich's
  57. Ataxia, Hereditary, Autosomal Dominant
  58. Atransferrinemia
  59. Atypical Hemolytic Uremic Syndrome
  60. Atypical Mole Syndrome
  61. Autosomal Dominant Interstitial Kidney Disease
  62. Autosomal Dominant Polycystic Kidney Disease
  63. Autosomal Dominant Porencephaly Type I
  64. Autosomal Recessive Disease
  65. Autosomal Recessive Hyper IgE Syndrome
  66. Baller Gerold Syndrome
  67. Barakat Syndrome
  68. Bardet Biedl Syndrome
  69. Barth Syndrome
  70. Batten Disease
  71. Beals Syndrome
  72. Beckwith Wiedemann Syndrome
  73. Benign Essential Blepharospasm
  74. Bernard Soulier syndrome
  75. Best Vitelliform Macular Dystrophy
  76. Biotinidase deficiency
  77. Birth Defects Prevention (Holistic)
  78. Birth Defects Testing
  79. Birt-Hogg-Dubé Syndrome
  80. Björnstad Syndrome
  81. Blood Transfusions for Sickle Cell Disease
  82. Bloom Syndrome
  83. Blue Diaper Syndrome
  84. Blue Rubber Bleb Nevus syndrome
  85. Börjeson-Forssman-Lehman Syndrome
  86. Bowen Hutterite Syndrome
  87. Branchio Oculo Facial Syndrome
  88. Branchio Oto Renal Syndrome
  89. Breast Cancer (BRCA) Gene Test
  90. Bronchodilators for Cystic Fibrosis
  91. Brugada Syndrome
  92. C Syndrome
  93. CADASIL
  94. Campomelic Syndrome
  95. Camurati-Engelmann Disease
  96. Canavan Disease
  97. Cancer Genetics Overview (PDQ®): Genetics - Health Professional Information [NCI]
  98. Cancer Genetics Risk Assessment and Counseling (PDQ®): Genetics - Health Professional Information [NCI]
  99. CARASIL
  100. Carbamoyl Phosphate Synthetase I Deficiency
  101. Cardiofaciocutaneous Syndrome
  102. Carnitine Deficiency Syndrome
  103. Carnitine Palmitoyltransferase 1A Deficiency
  104. Carnosinemia
  105. Caroli Disease
  106. Carpenter Syndrome
  107. Cat Eye Syndrome
  108. Cataracts in Children
  109. Catel Manzke Syndrome
  110. Cavernous Malformation
  111. CDKL5
  112. Central Core Disease
  113. Cerebellar Agenesis
  114. Cerebro Oculo Facio Skeletal Syndrome
  115. Cerebrocostomandibular Syndrome
  116. Cerebrotendinous Xanthomatosis
  117. Charcot Marie Tooth Disease
  118. CHARGE Syndrome
  119. Chediak Higashi Syndrome
  120. Cholesteryl Ester Storage Disease
  121. Chorionic Villus Sampling (CVS)
  122. Choroideremia
  123. Chromosome 10, Monosomy 10p
  124. Chromosome 11, Partial Monosomy 11q
  125. Chromosome 11, Partial Trisomy 11q
  126. Chromosome 13, Partial Monosomy 13q
  127. Chromosome 14 Ring
  128. Chromosome 14, Trisomy Mosaic
  129. Chromosome 15 Ring
  130. Chromosome 15, Distal Trisomy 15q
  131. Chromosome 18 Ring
  132. Chromosome 18, Monosomy 18p
  133. Chromosome 18q- Syndrome
  134. Chromosome 21 Ring
  135. Chromosome 22 Ring
  136. Chromosome 22, Trisomy Mosaic
  137. Chromosome 3, Monosomy 3p
  138. Chromosome 3, Trisomy 3q2
  139. Chromosome 4, Monosomy 4q
  140. Chromosome 4, Monosomy Distal 4q
  141. Chromosome 4, Partial Trisomy Distal 4q
  142. Chromosome 4, Trisomy 4p
  143. Chromosome 6 Ring
  144. Chromosome 6, Partial Trisomy 6q
  145. Chromosome 7, Partial Monosomy 7p
  146. Chromosome 8, Monosomy 8p
  147. Chromosome 9 Ring
  148. Chromosome 9, Partial Monosomy 9p
  149. Chromosome 9, Tetrasomy 9p
  150. Chromosome 9, Trisomy 9p (Multiple Variants)
  151. Chromosome 9, Trisomy Mosaic
  152. Chronic Intestinal Pseudo-obstruction
  153. Clearing Extra Mucus From the Lungs
  154. Cleidocranial Dysplasia
  155. Clotting Factor Replacement for Hemophilia
  156. Cockayne Syndrome
  157. Coffin Lowry Syndrome
  158. Coffin Siris Syndrome
  159. Cohen Syndrome
  160. Collagen Type VI-Related Disorders
  161. Colon Cancer Genetic Testing
  162. Color Blindness
  163. Common Variable Immune Deficiency
  164. Complications From Klinefelter Syndrome
  165. Complications of Hemophilia
  166. Cone Dystrophy
  167. Congenital Adrenal Hyperplasia
  168. Congenital Disorders of Glycosylation
  169. Congenital Fiber Type Disproportion
  170. Congenital Generalized Lipodystrophy
  171. Congenital Heart Defect Types
  172. Congenital Heart Defects
  173. Congenital Heart Defects in Adults
  174. Congenital Heart Defects: Caring for Your Child
  175. Congenital Heart Defects: Complications
  176. Congenital Heart Defects: Pregnancy
  177. Congenital Heart Defects: Prostaglandins and Prostaglandin Inhibitors
  178. Congenital Hyperinsulinism
  179. Congenital Lactic Acidosis
  180. Congenital Muscular Dystrophy
  181. Conradi Hünermann Syndrome
  182. Corneal Dystrophies
  183. Cornelia de Lange Syndrome
  184. Corticosteroids for Cystic Fibrosis
  185. Craniofrontonasal Dysplasia
  186. Craniometaphyseal Dysplasia
  187. Cri du Chat Syndrome
  188. Crigler Najjar Syndrome
  189. Crouzon Syndrome
  190. Cutis Laxa
  191. Cystic Fibrosis
  192. Cystic Fibrosis
  193. Cystic Fibrosis and Exercise
  194. Cystic Fibrosis Carrier Screening
  195. Cystic Fibrosis: Getting Enough Calories and Nutrients
  196. Cystic Fibrosis: Helping Your Child Cough Up Mucus
  197. Cystic Fibrosis: Ways to Clear the Airways
  198. Cystinosis
  199. Cystinuria
  200. Cytochrome C Oxidase Deficiency
  201. Danon Disease
  202. De Barsy Syndrome
  203. Dejerine Sottas Disease
  204. Dentin Dysplasia Type I
  205. Dentinogenesis Imperfecta Type III
  206. Disaccharide Intolerance I
  207. Distal Myopathy
  208. DNA Fingerprinting
  209. DNase (Dornase Alfa) for Cystic Fibrosis
  210. Down Syndrome
  211. Down Syndrome
  212. Down Syndrome, Ages 1 Month to 1 Year
  213. Down Syndrome, Ages 1 to 5
  214. Down Syndrome, Ages 13 to 21
  215. Down Syndrome, Ages 5 to 13
  216. Down Syndrome, Ages Birth to 1 Month
  217. Down Syndrome: Grooming and Hygiene
  218. Down Syndrome: Helping Your Child Avoid Social Problems
  219. Down Syndrome: Helping Your Child Dress Independently
  220. Down Syndrome: Helping Your Child Eat Independently
  221. Down Syndrome: Helping Your Child Learn to Communicate
  222. Down Syndrome: Helping Your Child Learn to Walk and Use Other Motor Skills
  223. Down Syndrome: Training and Therapy for Young People
  224. Dravet Syndrome Spectrum
  225. Dubin Johnson Syndrome
  226. Dubowitz Syndrome
  227. Duchenne Muscular Dystrophy
  228. Dupuytren's Disease
  229. Dupuytren's Disease: Surgery Complications
  230. Dyggve Melchior Clausen syndrome
  231. Dyschondrosteosis
  232. Dyskeratosis Congenita
  233. Dystrophy, Asphyxiating Thoracic
  234. Dystrophy, Myotonic
  235. Ear, Patella, Short Stature Syndrome
  236. Ectodermal Dysplasias
  237. Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate
  238. Ehlers Danlos Syndrome
  239. Ellis Van Creveld Syndrome
  240. Emery Dreifuss Muscular Dystrophy
  241. Endocardial Fibroelastosis
  242. Enzyme Replacement Therapy for Cystic Fibrosis
  243. Epidermolysis Bullosa
  244. Epidermolytic Ichthyosis
  245. Erythrokeratodermia with Ataxia
  246. Erythropoietic Protoporphyria
  247. Esophageal Atresia and/or Tracheoesophageal Fistula
  248. Fabry Disease
  249. Factor VII Deficiency
  250. Factor XI Deficiency
  251. Familial Adenomatous Polyposis
  252. Familial Cold Autoinflammatory Syndrome
  253. Familial Encephalopathy with Neuroserpin Inclusion Bodies
  254. Familial Hypercholesterolemia
  255. Familial Hypophosphatemia
  256. Familial Idiopathic Basal Ganglia Calcification
  257. Familial Isolated Hypoparathyroidism
  258. Familial Lipoprotein Lipase Deficiency
  259. Familial Mediterranean Fever
  260. Familial Partial Lipodystrophy
  261. Family History and the Risk for Breast or Ovarian Cancer
  262. Family History of Heart Disease
  263. Fanconi Anemia
  264. Farber's Disease
  265. Ferroportin Disease
  266. Fetal Retinoid Syndrome
  267. FG Syndrome Type 1
  268. Fibrodysplasia Ossificans Progressiva (FOP)
  269. First-Trimester Screening for Birth Defects
  270. Focal Dermal Hypoplasia
  271. Forbes Disease
  272. Fountain Syndrome
  273. Fragile X Syndrome
  274. Fraser Syndrome
  275. Freeman Sheldon Syndrome
  276. Frontofacionasal Dysplasia
  277. Frontonasal Dysplasia
  278. Fructose Intolerance, Hereditary
  279. Fructosuria
  280. Fukuyama Type Congenital Muscular Dystrophy
  281. Galactosemia
  282. Galactosemia Test
  283. Galloway-Mowat Syndrome
  284. Gaucher Disease
  285. Genetic Influences on Weight
  286. Genetic Test
  287. Genetic Test for Clopidogrel
  288. Genetic Testing: Ethical, Legal, and Religious Issues
  289. Genetics
  290. Genetics of Prostate Cancer (PDQ®): Genetics - Health Professional Information [NCI]
  291. Genetics of Skin Cancer (PDQ®): Genetics - Health Professional Information [NCI]
  292. Giant Axonal Neuropathy
  293. Giant Congenital Melanocytic Nevus
  294. Gilbert syndrome
  295. Glanzmann Thrombasthenia
  296. Glucose Transporter Type 1 Deficiency Syndrome
  297. Glucose-6-Phosphate Dehydrogenase Deficiency
  298. Glucose-Galactose Malabsorption
  299. Glutaricaciduria I
  300. Glutaricaciduria II
  301. Glycogen Storage Disease Type I
  302. Glycogen Storage Disease Type V
  303. Glycogen Storage Disease Type VII
  304. Goodman Syndrome
  305. Gordon Syndrome
  306. Gorlin-Chaudhry-Moss Syndrome
  307. Gottron Syndrome
  308. Greig Cephalopolysyndactyly Syndrome
  309. Growth Hormone Insensitivity
  310. Hailey-Hailey Disease
  311. Haim-Munk Syndrome
  312. Hair Analysis
  313. Hair Loss
  314. Hair Loss: Should I Take Medicine to Regrow Hair?
  315. Hajdu Cheney Syndrome
  316. Hartnup Disease
  317. Hay-Wells Syndrome
  318. Hematuria, Benign, Familial
  319. Hemochromatosis
  320. Hemochromatosis Gene Test (HFE Test)
  321. Hemochromatosis Genetic Screening
  322. Hemophilia
  323. Hemophilia: Preventing Bleeding Episodes
  324. Hemophilia: Treatment for People Who Have Inhibitors
  325. Hemophilia: Understanding Genetic Risk
  326. Hepatic Fibrosis, Congenital
  327. Hereditary Hyperphosphatasia
  328. Hereditary Lymphedema
  329. Hereditary Multiple Osteochondromas
  330. Hereditary Spastic Paraplegia
  331. Hermansky Pudlak syndrome
  332. Hers Disease
  333. Hirschsprung's Disease
  334. Histidinemia
  335. Homocystinuria
  336. Homocystinuria due to Cystathionine Beta-Synthase Deficiency
  337. Hormone Inhibin A
  338. How Cystic Fibrosis Affects Breathing and the Lungs
  1. How Cystic Fibrosis Affects Digestion and the Pancreas
  2. How Cystic Fibrosis Affects the Bones
  3. How Cystic Fibrosis Affects the Reproductive System
  4. How Cystic Fibrosis Affects the Sweat Glands
  5. Human Chorionic Gonadotropin (HCG)
  6. Human HOXA1 Syndromes
  7. Hunter Syndrome
  8. Huntington's Disease
  9. Huntington's Disease Genetic Test
  10. Hydroxyurea for Sickle Cell Disease
  11. Hyper IgD syndrome
  12. Hyper IgM Syndrome
  13. Hyperekplexia
  14. Hyperferritinemia Cataract Syndrome
  15. Hyperlipoproteinemia Type III
  16. Hyperoxaluria, Primary (Type I)
  17. Hyperprolinemia Type I
  18. Hyperprolinemia Type II
  19. Hyperthyroidism
  20. Hypertrophic Cardiomyopathy
  21. Hypochondroplasia
  22. Hypohidrotic Ectodermal Dysplasia
  23. Hypothalamic Hamartoma
  24. I Cell Disease
  25. Ichthyosis
  26. Ichthyosis Hystrix, Curth Macklin Type
  27. Ichthyosis Vulgaris
  28. Ichthyosis, Chanarin Dorfman Syndrome
  29. Ichthyosis, CHILD Syndrome
  30. Ichthyosis, Erythrokeratodermia Variabilis
  31. Ichthyosis, Erythrokeratolysis Hiemalis
  32. Ichthyosis, Harlequin Type
  33. Ichthyosis, Lamellar
  34. Ichthyosis, Netherton Syndrome
  35. Ichthyosis, Sjögren Larsson Syndrome
  36. Ichthyosis, Trichothiodystrophy
  37. Ichthyosis, X Linked
  38. Incontinentia Pigmenti
  39. Infertility: Problems With the Man's Reproductive System
  40. Inherited Blood-Clotting Problems
  41. IRF6-Related Disorders
  42. Jackson-Weiss Syndrome
  43. Jarcho-Levin Syndrome
  44. Jejunal Atresia
  45. Jervell and Lange-Nielsen Syndrome
  46. Johanson-Blizzard Syndrome
  47. Joubert Syndrome
  48. Juberg-Marsidi Syndrome
  49. Kabuki Syndrome
  50. Kallmann Syndrome
  51. Karyotype Test
  52. KBG Syndrome
  53. Kennedy Disease
  54. Kenny-Caffey Syndrome
  55. Keratitis Ichthyosis Deafness Syndrome
  56. Klinefelter Syndrome
  57. Klippel-Trénaunay Syndrome
  58. Kniest Dysplasia
  59. Kufs Disease
  60. Kugelberg Welander Syndrome
  61. L1 Syndrome
  62. Laband Syndrome
  63. LADD syndrome
  64. Leber Congenital Amaurosis
  65. Leber Hereditary Optic Neuropathy
  66. Leigh Syndrome
  67. Leiomyosarcoma
  68. Lenz Microphthalmia Syndrome
  69. LEOPARD Syndrome
  70. Leri Pleonosteosis
  71. Lesch Nyhan Syndrome
  72. Leukodystrophy
  73. Leukodystrophy, Metachromatic
  74. Levels of Evidence for Cancer Genetics Studies (PDQ®): Genetics - Health Professional Information [NCI]
  75. Levy-Yeboa Syndrome
  76. Limb-Girdle Muscular Dystrophies
  77. Lissencephaly
  78. Løken Senior Syndrome
  79. Lung Transplant for Cystic Fibrosis
  80. Lymphedema-Distichiasis Syndrome
  81. Lynch Syndrome
  82. Lysosomal Free Sialic Acid Storage Disorders
  83. Lysosomal Storage Disorders
  84. Machado-Joseph Disease
  85. Malignant Hyperthermia
  86. Mandibuloacral Dysplasia
  87. Maple Syrup Urine Disease
  88. Marden Walker Syndrome
  89. Marfan Syndrome
  90. Maroteaux Lamy Syndrome
  91. Marshall Syndrome
  92. Maternally Inherited Leigh Syndrome and NARP Syndrome
  93. Maxillofacial Dysostosis
  94. May Hegglin Anomaly
  95. McCune Albright Syndrome
  96. McKusick Type Metaphyseal Chondrodysplasia
  97. MCT8-specific thyroid hormone cell transporter deficiency
  98. MDR3 Deficiency
  99. MECP2 Duplication Syndrome
  100. Medium Chain Acyl CoA Dehydrogenase Deficiency
  101. Megalencephaly-Capillary Malformation
  102. Megalocornea Mental Retardation Syndrome
  103. Meleda Disease
  104. Melnick Needles Syndrome
  105. Melorheostosis
  106. Menkes Disease
  107. Menkes’ Disease (Holistic)
  108. Metatropic Dysplasia I
  109. Miller Syndrome
  110. Mitochondrial Neurogastrointestinal Encephalopathy
  111. Monilethrix
  112. Morquio Syndrome
  113. Mowat-Wilson Syndrome
  114. Muckle-Wells Syndrome
  115. Mucolipidosis IV
  116. Mucopolysaccharidoses
  117. Mucopolysaccharidosis Type I
  118. Mucopolysaccharidosis Type III
  119. Mulibrey Nanism
  120. Multiple Endocrine Neoplasia Type 1
  121. Multiple Endocrine Neoplasia Type 2
  122. Multiple Epiphyseal Dysplasia
  123. Multiple Pregnancy: Genetic Disorders and Birth Defects
  124. Multiple Sulfatase Deficiency
  125. Mulvihill Smith Syndrome
  126. Muscular Dystrophy, Becker
  127. Myhre Syndrome
  128. Myopathy, Congenital, Batten Turner Type
  129. Myopathy, Myofibrillar
  130. Myopathy, Scapuloperoneal
  131. Myotonia Congenita
  132. N-Acetylglutamate Synthetase Deficiency
  133. Nail Patella Syndrome
  134. Nance-Horan Syndrome
  135. Nasal Potential Difference Test for Cystic Fibrosis
  136. Nearsightedness: Related Inherited Diseases
  137. Needle Aponeurotomy for Dupuytren's Disease
  138. Nemaline Myopathy
  139. Neonatal Hemochromatosis
  140. Neonatal-onset Multisystem Inflammatory Disease
  141. Nephrogenic Diabetes Insipidus
  142. Neu Laxova Syndrome
  143. Neuroacanthocytosis
  144. Neurodegeneration with Brain Iron Accumulation Type 1
  145. Neurofibromatosis Type 1 (NF1)
  146. Neurofibromatosis Type 2 (NF2)
  147. Neuropathy, Hereditary Sensory, Type I
  148. Neuropathy, Hereditary Sensory, Type II
  149. Neuropathy, Hereditary Sensory, Type IV
  150. Nevoid Basal Cell Carcinoma Syndrome
  151. Nonketotic Hyperglycinemia
  152. Noonan Syndrome
  153. Norrie Disease
  154. Nuchal Translucency Screening Test
  155. Ocular Albinism
  156. Oculocerebral Syndrome with Hypopigmentation
  157. Oculocerebrocutaneous Syndrome
  158. Oculo-Dento-Digital Dysplasia
  159. Oculopharyngeal Muscular Dystrophy
  160. Olivopontocerebellar Atrophy
  161. Oral-Facial-Digital Syndrome
  162. Ornithine Transcarbamylase Deficiency
  163. Orocraniodigital Syndrome
  164. OSMED, Homozygous
  165. Osteopetrosis
  166. Otopalatodigital Syndrome Type I and II
  167. Ovotesticular Disorder of Sex Development
  168. Pachydermoperiostosis
  169. Pachyonychia Congenita
  170. Pain Management
  171. Pallister Hall Syndrome
  172. Pallister Killian Mosaic Syndrome
  173. Pallister W Syndrome
  174. Papillon Lefèvre Syndrome
  175. Paramyotonia Congenita
  176. Peeling Skin Syndrome
  177. Pelizaeus Merzbacher disease
  178. Penta X Syndrome
  179. Pentalogy of Cantrell
  180. PEPCK Deficiency
  181. Peutz Jeghers Syndrome
  182. Pfeiffer Syndrome
  183. Phelan-McDermid Syndrome
  184. Phenylketonuria
  185. Phenylketonuria (Holistic)
  186. Phenylketonuria (PKU)
  187. Phenylketonuria (PKU) Test
  188. Phocomelia Syndrome
  189. Phosphoglycerate Kinase Deficiency
  190. PMM2-CDG
  191. POEMS Syndrome
  192. Polycystic Kidney Disease, Autosomal Recessive
  193. Polycystic Liver Disease
  194. Polycystic Ovary Syndrome (PCOS)
  195. Polycythemia Vera
  196. Pompe Disease
  197. Porphyria Cutanea Tarda
  198. Porphyria, Acute Intermittent
  199. Porphyria, ALA-D
  200. Porphyria, Hereditary Coproporphyria
  201. Pregnancy: Should I Have Amniocentesis?
  202. Pregnancy: Should I Have CVS (Chorionic Villus Sampling)?
  203. Pregnancy: Should I Have Screening Tests for Birth Defects?
  204. Primary Ciliary Dyskinesia
  205. Progressive Symmetric Erythrokeratodermia
  206. Pseudo Hurler Polydystrophy
  207. Pseudoachondroplastic Dysplasia
  208. Pseudocholinesterase Deficiency
  209. Pseudohypoparathyroidism
  210. Pseudoxanthoma Elasticum (PXE)
  211. PTEN Hamartoma Tumor Syndrome
  212. Pyknodysostosis
  213. Pyruvate Carboxylase Deficiency
  214. Pyruvate Kinase Deficiency
  215. Rabson-Mendenhall Syndrome
  216. Radiation Sickness
  217. Rapp Hodgkin Syndrome
  218. Reducing Cancer Risk When You Are BRCA-Positive
  219. Refsum Disease
  220. Replacement Therapy for Von Willebrand's Disease
  221. Rieger Syndrome
  222. Ring Chromosome 4
  223. Roberts Syndrome
  224. Robinow Syndrome
  225. Romano Ward Syndrome
  226. Rosenberg Chutorian Syndrome
  227. Rothmund Thomson Syndrome
  228. Roussy Lévy Syndrome
  229. Rubinstein Taybi Syndrome
  230. Russell Silver Syndrome (RSS)
  231. Ruvalcaba Syndrome
  232. Saethre Chotzen Syndrome
  233. Sakati Syndrome
  234. Santavuori Disease
  235. Schimke Immuno-osseous Dysplasia
  236. Schimmelpenning Syndrome
  237. Schindler disease
  238. Schinzel Syndrome
  239. Schwartz Jampel Syndrome
  240. Scott Craniodigital Syndrome
  241. Seckel Syndrome
  242. Segawa Syndrome
  243. Setleis Syndrome
  244. Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)
  245. SHORT Syndrome
  246. Shwachman Diamond Syndrome
  247. Sickle Cell Crisis
  248. Sickle Cell Disease
  249. Sickle Cell Disease: Acute Chest Syndrome
  250. Sickle Cell Disease: Aplastic Crisis
  251. Sickle Cell Disease: Dactylitis (Hand-Foot Syndrome)
  252. Sickle Cell Disease: Home Treatment for Priapism
  253. Sickle Cell Disease: Pain Management
  254. Sickle Cell Disease: Preventing Problems and Staying Healthy
  255. Sickle Cell Disease: Splenic Sequestration
  256. Sickle Cell Disease: Vision Problems
  257. Sickle Cell Disorders
  258. Sickle Cell Test
  259. Sickle Cell Trait
  260. Simpson Dysmorphia Syndrome
  261. Sly Syndrome
  262. Smith Lemli Opitz Syndrome
  263. Smith Magenis Syndrome
  264. Sotos Syndrome
  265. Spinal Muscular Atrophy
  266. Spinocerebellar Ataxia with Axonal Neuropathy
  267. Spondyloepiphyseal Dysplasia Tarda
  268. Spondyloepiphyseal Dysplasia, Congenital
  269. Stem Cell Transplant for Sickle Cell Disease
  270. Stool Analysis for Cystic Fibrosis
  271. Sturge Weber Syndrome
  272. Stuve-Wiedemann Syndrome
  273. Succinic Semialdehyde Dehydrogenase Deficiency
  274. Summitt Syndrome
  275. Sweat Test
  276. Swyer syndrome
  277. Tangier Disease
  278. Tay Sachs Disease
  279. Tay-Sachs Disease
  280. Tay-Sachs Test
  281. Tetrahydrobiopterin Deficiency
  282. Thalassemia
  283. Thalassemia Major
  284. Three M Syndrome
  285. Thrombocytopenia Absent Radius Syndrome
  286. Thyroid Hormone Replacement for Hypothyroidism
  287. Timothy Syndrome
  288. Tongue-Tie
  289. Tooth and Nail Syndrome
  290. Tourette's Disorder
  291. Townes Brocks Syndrome
  292. Treacher Collins Syndrome
  293. Tricho Dento Osseous Syndrome
  294. Trichorhinophalangeal Syndrome Type II
  295. Trichorhinophalangeal Syndrome Type III
  296. Trimethylaminuria
  297. Triosephosphate Isomerase Deficiency
  298. Triple or Quad Screening for Birth Defects
  299. Triploid Syndrome
  300. Trisomy 13 Syndrome
  301. Trisomy 18 Syndrome
  302. Trisomy X
  303. Tuberous Sclerosis
  304. Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
  305. Turcot Syndrome
  306. Turner Syndrome
  307. Types of Hair Loss
  308. Tyrosine Hydroxylase Deficiency
  309. Usher Syndrome
  310. Valinemia
  311. Variegate Porphyria
  312. Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)
  313. Von Hippel-Lindau Syndrome
  314. Von Willebrand Disease
  315. Von Willebrand's Disease
  316. Waardenburg Syndrome
  317. WAGR Syndrome/11p Deletion Syndrome
  318. Walker Warburg Syndrome
  319. WAS Related Disorders
  320. Weill Marchesani syndrome
  321. Werner Syndrome
  322. Wieacker Syndrome
  323. Wiedemann Rautenstrauch Syndrome
  324. Wildervanck Syndrome
  325. Williams Syndrome
  326. Wilson’s Disease (Holistic)
  327. Wilson's Disease
  328. WNT4 Deficiency
  329. Wolf Hirschhorn Syndrome
  330. X linked Juvenile Retinoschisis
  331. Xeroderma Pigmentosum
  332. X-Linked Myopathy with Excessive Autophagy
  333. X-Linked Myotubular Myopathy
  334. X-linked Opitz G/BBB syndrome
  335. X-Linked Protoporphyria
  336. XYY Syndrome
  337. Zellweger Spectrum Disorders

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