Assessment
Questionnaire
See what questions
a doctor would ask.
Conditions here are listed
according to
prevalence, which is the estimated number
of people who have the condition at a given time.
This measure may differ from the incidence of the condition,
which refers to new annual cases,
and the rates below do not include incidence data in computations.
For comparison, see conditions by people affected (prevalence
or incidence),
and conditions by incidence.
See also details about prevalence and incidence statistics
for more information.
In most cases, rates refer to the USA
or other industrialized nations.
| Condition | Percent | Rate | US People | Data |
| 1. Respiratory conditions | 78.90% | 1 in 1 | 214.6 million | 78.9 per 100 (NHIS96) |
| 2. Nonsyndromic deafness | 70.00% | 1 in 1 | 190.4 million | 70-80% of cases of congenital hearing loss are not associated with any syndrome in the US, Genetics Home Reference website |
| 3. Cytomegalovirus | 50.00% | 1 in 2 | 136 million | 50% approximately; almost half of young adults (NIAID) |
| 4. Cold sores | 50.00% | 1 in 2 | 136 million | estimated 50 to 80% of Americans have HSV-1 |
| 5. Refractive Eye Disorders | 44.12% | 1 in 2 | 120 million | 120 million people |
| 6. High Cholesterol | 37.13% | 1 in 3 | 101 million | estimated 101 million Americans have cholesterol >= 200 mg/dL (CDC) |
| 7. Overweight | 35.70% | 1 in 3 | 97.1 million | 97.1 million American adults |
| 8. Chronic Illness | 33.09% | 1 in 3 | 90 million | 90 million people in USA (CDC) |
| 9. Tetrahydrobiopterin Deficiency | 30.00% | 1 in 3 | 81.6 million | 30% of infants born with high phenylalanine levels have tetrahydrobiopterin deficiency in China, Genetics Home Reference website |
| 10. Familial atrial fibrillation | 30.00% | 1 in 3 | 81.6 million | estimated 30% of cases of atrial fibrillation are inherited (familial), Genetics Home Reference website |
| 11. Myopia | 25.74% | 1 in 3 | 70 million | 70 million Americans; over 25 percent of all adult Americans. |
| 12. Insulin Resistance | 25.00% | 1 in 4 | 68 million | about 25% of the USA population have insulin resistance |
| 13. Metabolic Syndrome | 25.00% | 1 in 4 | 68 million | about 25% of the USA population have insulin resistance |
| 14. Genital herpes | 24.63% | 1 in 4 | 67 million | 67 million people (NIAID) |
| 15. Sexually Transmitted Diseases | 23.90% | 1 in 4 | 65 million | 65 million people living with an incurable STD (CDC) |
| 16. Cardiovascular Disease | 22.72% | 1 in 4 | 61.8 million | 61,800,000 cases in the USA (American Heart Association, 2004) |
| 17. Hyperopia | 22.40% | 1 in 4 | 60.9 million | 22.4% of population self-reported having long-sightedness in Australia 2001 (ABS 2001 National Health Survey, Australia’s Health 2004, AIHW) |
| 18. Smoking | 22.30% | 1 in 4 | 60.7 million | 22.3% of Americans smoke (CDC); 23 million American women smoke (NHLBI) |
| 19. Toxoplasmosis | 22.06% | 1 in 4 | 60 million | More than 60 million in USA but few have symptoms (DPD) |
| 20. Digestive Diseases | 22.06% | 1 in 4 | 60 million | 60 to 70 million cases in the USA 1985 (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447) |
| 21. Epstein-Barr virus | 20.00% | 1 in 5 | 54.4 million | as many as 20% of people carry the virus in their throats |
| 22. Hypertension | 18.38% | 1 in 5 | 50 million | 50 million Americans (NHLBI); 217 per 1000 (NHIS95) |
| 23. Dandruff | 18.38% | 1 in 5 | 50 million | 50 million |
| 24. Allergies | 18.38% | 1 in 5 | 50 million | 50-60 million (NIAID); 9-16% (NIAID); 50 million cases annually (NIAID); 10% of American women (NHWIC); 8,526,000 children respiratory allergies (NHIS-97); 7,304,000 children non-respiratory allergies (NHIS-97) |
| 25. Headache | 16.54% | 1 in 6 | 45 million | 45 million Americans get chronic headaches. 20 million American women (NWHIC). |
| 26. Chronic headache | 16.54% | 1 in 6 | 45 million | estimated 45 million Americans (NINDS) |
| 27. Astigmatism | 16.54% | 1 in 6 | 45 million | 45 million Americans (dubious estimate based on "two thirds of people with myopia also have astigmatism") |
| 28. Impaired glucose tolerance | 15.07% | 1 in 6 | 41 million | estimated 41 million people aged 40-74 have pre-diabetes in the US 1988-94 (National Diabetes Statistics fact sheet, NIDDK, 2003) |
| 29. Premenstrual syndrome | 15.00% | 1 in 6 | 40.8 million | 30-40% women suffer some impairment of daily activity (NWHIC); 75% women have some symptoms; 3-8% women have severe PMS (NWHIC). |
| 30. Orthopedic disorders | 14.90% | 1 in 6 | 40.5 million | 149 per 1000 - NHIS95 |
| 31. Sleep disorders | 14.71% | 1 in 6 | 40 million | approximately 40 million Americans (NHLBI) |
| 32. Obesity | 14.63% | 1 in 6 | 39.8 million | 39.8 million American adults; more than 57% of American adults are overweight (CDC) |
| 33. Arthritis | 13.60% | 1 in 7 | 37 million | 37 million Americans (NIAMS) |
| 34. Sinusitis | 13.60% | 1 in 7 | 37 million | 37 million annually in the USA; 33 million reported to CDC (NIAID) |
| 35. Hay fever | 12.87% | 1 in 7 | 35 million | 35 million Americans (NIAID: pollen allergies) |
| 36. Pollen allergy | 12.87% | 1 in 7 | 35 million | estimated 35 million Americans with pollen allergies (NIAID) |
| 37. Androgenetic alopecia | 12.87% | 1 in 7 | 35 million | estimated 35 million men suffer from androgenetic alopecia in the US, Genetics Home Reference website |
| 38. Chronic Sinusitis | 12.60% | 1 in 7 | 34.3 million | 12.6% (NIAID); 152 per 1000 - NHIS95 |
| 39. Insomnia | 11.76% | 1 in 8 | 32 million | 32 million (unreliable estimate) |
| 40. Chronic lower respiratory diseases | 11.76% | 1 in 8 | 32 million | estimated 32 million including 15 million undiagnosed |
| 41. Lung conditions | 11.03% | 1 in 9 | 30 million | more than 30 million Americans with chronic lung diseases (NWHIC) |
| 42. Impotence | 11.03% | 1 in 9 | 30 million | 30 million men (NIDDK) |
| 43. Lactose Intolerance | 11.03% | 1 in 9 | 30 million | 30 million people to 50 million people (NIDDK 1994); about 25% of population (1994/NIDDK) |
| 44. Osteoporosis | 10.29% | 1 in 9 | 28 million | 28 million Americans (10 million with osteoporosis; 18 million with low bone mass); eight million American women and 2 million men (NWHIC) |
| 45. Migraine | 10.29% | 1 in 9 | 28 million | 28 million Americans (NINDS) |
| 46. Mole | 10.00% | 1 in 10 | 27.2 million | common; most people have 10-40 moles. |
| 47. Molluscum contagiosum | 10.00% | 1 in 10 | 27.2 million | Common. |
| 48. Scabies | 10.00% | 1 in 10 | 27.2 million | common |
| 49. Retroverted uterus | 10.00% | 1 in 10 | 27.2 million | about 1 in 5 women |
| 50. Allergic rhinitis | 10.00% | 1 in 10 | 27.2 million | 10% of the population with allergic rhinitis/hay fever in the US (Mayo Clinic) |
| 51. Otosclerosis | 10.00% | 1 in 10 | 27.2 million | as many as 10% of Caucasians have the condition but most do not get symptoms; about 1 in 100 cases actually lose hearing from otosclerosis |
| 52. Extra Nipples | 10.00% | 1 in 10 | 27.2 million | about 1 in 10 people but most are small and mistaken for freckles or moles |
| 53. Glucose-6-Phosphate Dehydrogenase Deficiency | 10.00% | 1 in 10 | 27.2 million | 1 in 10 African-American males suffer from glucose-6-phosphate dehydrogenase deficiency in the US, Genetics Home Reference website |
| 54. Amyotrophic lateral sclerosis, familial | 10.00% | 1 in 10 | 27.2 million | 10% of all cases of amyotrophic lateral sclerosis are familial, Genetics Home Reference website |
| 55. Depressive disorders | 9.50% | 1 in 10 | 25.8 million | 9.5 percent of adult Americans (NIMH) |
| 56. Rare diseases | 9.19% | 1 in 10 | 25 million | about 25 million Americans (ORD); each disease less than 200,000 Americans by definition. |
| 57. Presbyopia | 9.00% | 1 in 11 | 24.5 million | 9.0% of population self-reported having presbyopia in Australia 2001 (ABS 2001 National Health Survey, Australia’s Health 2004, AIHW) |
| 58. Back Impairment | 8.50% | 1 in 11 | 23.1 million | 85 per 1000 - NHIS95 (deformity or orthopedic impairment of back) |
| 59. Heart disease | 8.09% | 1 in 12 | 22 million | 22 million adults in the US 2000 (Centers for Disease Control and Prevention) |
| 60. Hearing Impairment | 8.09% | 1 in 12 | 22 million | 22 million; 158 per 1000 (NHIS95) |
| 61. Thyroid disorders | 7.35% | 1 in 13 | 20 million | 20 million Americans (NWHIC) |
| 62. Human Papillomavirus | 7.35% | 1 in 13 | 20 million | 20 million Americans currently infected (NIAID; CDC 2001) |
| 63. Osteoarthritis | 7.35% | 1 in 13 | 20 million | 20 million people (NIAMS); more than 16 million people (NWHIC) |
| 64. Mood disorders | 7.10% | 1 in 14 | 19.3 million | estimated 7.1% adults (USSG) |
| 65. Ischemic heart disease | 6.80% | 1 in 14 | 18.5 million | 68 per 1000 (NHIS95) |
| 66. Sleep apnea | 6.62% | 1 in 15 | 18 million | estimated 18 million Americans (NHLBI) |
| 67. Asthma | 6.40% | 1 in 15 | 17.4 million | 6.4% USA (NIAID); 17 million Americans (NIAID) including 5 million children; 8.1 million children (NHIS-97), 51 per 1000 - NHIS95; 14.5 million; 5% of population (NWHIC); 14.9 million in 1995 (NHLBI) |
| 68. Acne | 6.25% | 1 in 16 | 17 million | 17 million Americans, almost 85% of people 12-24 years of age. |
| 69. Diabetes | 5.88% | 1 in 17 | 16 million | 16 million Americans with 10.3 million diagnosed and 8.1 million women (NWHIC); 65 per 1000 - NHIS95; 8 million - perhaps 16 million if include not-yet-diagnosed. |
| 70. Type 2 diabetes | 5.88% | 1 in 17 | 16 million | 16 million Americans (NWHIC, includes undiagnosed); 7.2 million (actually diagnosed) |
| 71. Gallstones | 5.88% | 1 in 17 | 16 million | 16 to 22 million people in the USA 1976-87 (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, US Government Printing Office, NIDDK, 1994) |
| 72. Crouzon Syndrome | 5.88% | 1 in 17 | 16 million | 16 million newborns suffer from Crouzon syndrome, Genetics Home Reference website |
| 73. Alcoholism | 5.55% | 1 in 18 | 15.1 million | estimated 15.1 million people: 15.1 million alcohol-abusing or alcohol-dependent individuals and 4.6 million are women (NWHIC); nearly 14 million Americans (NIAAA) |
| 74. Alcohol abuse | 5.55% | 1 in 18 | 15.1 million | estimated 15.1 million people: 15.1 million alcohol-abusing or alcohol-dependent individuals and 4.6 million are women (NWHIC); nearly 14 million Americans (NIAAA) |
| 75. Eczema | 5.51% | 1 in 18 | 15 million | 15 million people (NIAMS); 10% infants/children estimated (NIAMS); 9% (NIAID); 8.5 million |
| 76. Gynecomastia | 5.51% | 1 in 18 | 15 million | 15 million - 15% of adult men to some extent (unreliable estimate) |
| 77. Heartburn | 5.51% | 1 in 18 | 15 million | 15 million Americans have it daily (NIDDK) |
| 78. Depression | 5.30% | 1 in 18 | 14.4 million | estimated 5.3% adults (USSG); 17 million people; approximately 4% of adolescents get seriously depressed (NIMH); annually 12% of women ; 7% of men; lifetime risk of an episode for women 20%. 3-4 million men USA. |
| 79. Arrhythmias | 5.30% | 1 in 18 | 14.4 million | 53 per 1000 (NHIS95: heart rhythm disorders); 21 per 1000 (NHIS95: heart murmurs) |
| 80. Urinary stones | 5.20% | 1 in 19 | 14.1 million | 5.2% of adults in the USA 1988-1994 (Weighted Analysis of 1988-1994 National Health and Nutrition Survey, 2003) |
| 81. Raynaud's phenomenon | 5.00% | 1 in 20 | 13.6 million | 5-10% (NIAMS estimate). Scleroderma-related disorders including Raynaud's phenomenon between 250,000 and 992,500. |
| 82. Uterine fibroids | 5.00% | 1 in 20 | 13.6 million | 10-20% women (NWHIC) |
| 83. Endometriosis | 5.00% | 1 in 20 | 13.6 million | 10 to 20 percent of American women of childbearing age have endometriosis (NIDCD); up to 2 million women in the UK. |
| 84. Red-green color blindness | 5.00% | 1 in 20 | 13.6 million | about 10% of males |
| 85. Congenital myotonic dystrophy | 5.00% | 1 in 20 | 13.6 million | 5 per 100 000 people suffer from myotonic dystrophy in the US |
| 86. COPD | 4.96% | 1 in 20 | 13.5 million | 13.5 million Americans (NHLBI) |
| 87. Coronary heart disease | 4.85% | 1 in 20 | 13.2 million | estimated 13,200,000 in the USA 2001 (American Heart Association, 2004) |
| 88. Urinary Incontinence | 4.78% | 1 in 20 | 13 million | 13 million adults (NIDDK); 1 in 10 over 65 (NWHIC). |
| 89. Rosacea | 4.78% | 1 in 20 | 13 million | 13 million people in the United States (NIAMS) |
| 90. Varicose veins | 4.50% | 1 in 22 | 12.2 million | 45 per 1000 (NHIS95) |
| 91. Tinnitus | 4.50% | 1 in 22 | 12.2 million | 45 per 1000 (NHIS95); 12 million Americans |
| 92. Chronic Bronchitis | 4.45% | 1 in 22 | 12.1 million | 12.1 million Americans (NHLBI) |
| 93. Obstructive sleep apnea | 4.41% | 1 in 22 | 12 million | 12 million Americans |
| 94. Genetic Disease | 4.41% | 1 in 22 | 12 million | 12 million Americans - unreliable estimate, (perhaps 2.5% births) |
| 95. Phobias | 4.23% | 1 in 23 | 11.5 million | 11.5 million adults (NIMH); 8.0% adults (NIMH) |
| 96. Cornea disorders | 4.04% | 1 in 24 | 11 million | 11,000,000 people experience corneal disorders such as herpes or dry eye in the US (Research to Prevent Blindness, NISE, NSF) |
| 97. Dysthymia | 4.01% | 1 in 24 | 10.9 million | about 10.9 million American adults (NIMH); estimated 1.6% adults (USSG) |
| 98. Presbycusis | 3.90% | 1 in 25 | 10.6 million | 30-35% over 65 have some hearing loss, 40-50% over 70. |
| 99. Hemorrhoids | 3.82% | 1 in 26 | 10.4 million | 10.4 million people in the USA 1983-87 (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, NIDDK, 1994) |
| 100. Latent tuberculosis | 3.68% | 1 in 27 | 10 million | estimated 10 to 15 million people in USA (NIAID) |
| 101. Jaw conditions | 3.68% | 1 in 27 | 10 million | estimated 10 million women in the USA (NWHIC) |
| 102. Age-related macular degeneration | 3.68% | 1 in 27 | 10 million | 10,000,000 people have reduced vision due to age-related macular degeneration in the US (Research to Prevent Blindness, NISE, NSF) |
| 103. Indigestion | 3.50% | 1 in 28 | 9.5 million | 35 per 1000 - NHIS95 (frequent indigestion) |
| 104. Dermatitis | 3.30% | 1 in 30 | 8 million | 33 per 1000 (NHIS95) |
| 105. Insect sting allergies | 3.30% | 1 in 30 | 8 million | 3.3% (NIAID); up to 5% of the population (NHWIC) |
| 106. Bursitis | 3.20% | 1 in 31 | 8.7 million | 32 per 1000 (NHIS95) |
| 107. Autoimmune diseases | 3.13% | 1 in 31 | 8.5 million | 8,511,845 people in the USA 1996 1 |
| 108. Dry skin | 3.10% | 1 in 32 | 8.4 million | 31 per 1000 - NHIS95 (trouble with dry/itching skin) |
| 109. Disc Disorders | 3.10% | 1 in 32 | 8.4 million | 31 per 1000 (NHIS95: intervertebrate disc disorders) |
| 110. Paget's disease of bone | 3.00% | 1 in 33 | 8.2 million | about 3% of people aged over 40; 10% by age 80. |
| 111. Retinoblastoma | 3.00% | 1 in 33 | 8.2 million | 3% of cancers in children under the age of 15 are due to retinoblastomas, Genetics Home Reference website |
| 112. Congenital conditions | 3.00% | 1 in 33 | 8.2 million | 3-4% of babies (NWHIC) |
| 113. Gastroesophageal Reflux Disease | 3.00% | 1 in 33 | 8.2 million | 3-7% of the population in the USA 1985 for "GERD and related esophageal disorders" (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, NIDDK, 1994) |
| 114. Urinary tract infections (child) | 3.00% | 1 in 33 | 8.2 million | 3% of girls and 1% of boys before age 11 |
| 115. Cerebrovascular Conditions | 3.00% | 1 in 33 | 8.2 million | 30 per 1000 - NHIS95 |
| 116. Amyotrophic lateral sclerosis type 1 | 3.00% | 1 in 33 | 8.2 million | 3% of sporadic cases of amyotrophic lateral sclerosis are type 1, Genetics Home Reference website |
| 117. Heart attack | 2.76% | 1 in 36 | 7.5 million | 7.5 million people with AMI (NHLBI) |
| 118. Squint | 2.76% | 1 in 36 | 7.5 million | 7,500,000 people suffer from strabismus or cross eyes in the US (Research to Prevent Blindness, NISE, NSF) |
| 119. Kidney disease | 2.72% | 1 in 36 | 7.4 million | 7.4 million adults in the USA 1988-94 (American Journal of Kidney Disease) |
| 120. Prostate conditions | 2.60% | 1 in 38 | 7.1 million | 52 per 1000 men - NHIS95; 2,803 million men (NIDDK) |
| 121. Ingrown nails | 2.60% | 1 in 38 | 7.1 million | 26 per 1000 - NHIS95 (trouble with ingrown nails) |
| 122. Callus | 2.50% | 1 in 40 | 6.8 million | 25 per 1000 - NHIS95 (trouble with corns or calluses) |
| 123. Corns | 2.50% | 1 in 40 | 6.8 million | 25 per 1000 - NHIS95 (trouble with corns or calluses) |
| 124. Polycystic ovary syndrome | 2.50% | 1 in 40 | 6.8 million | 5-10% women of childbearing age (20-40); 30% of women have some PCOS symptoms (NWHIC). |
| 125. Fecal incontinence | 2.39% | 1 in 41 | 6.5 million | 6.5 million Americans |
| 126. Angina | 2.35% | 1 in 42 | 6.4 million | 6.4 million Americans (NHLBI) |
| 127. Specific phobias | 2.32% | 1 in 43 | 6.3 million | estimated 6.3 million adult Americans (NIMH); estimated 8.3% adults (USSG) |
| 128. Cystitis | 2.28% | 1 in 43 | 6.2 million | 6.2 million adults self-reported having a bladder infection for more than 3 months in the US 1988-1994 (Weighted Analysis of 1988-1994, NHANES, NIDDK) |
| 129. Back pain | 2.21% | 1 in 45 | 6 million | 6 million cases annually (unreliable estimate) |
| 130. Nonulcer dyspepsia | 2.13% | 1 in 46 | 5.8 million | 5.8 million people in the USA 1988 (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, 1994) |
| 131. Anti-Social Personality Disorder | 2.10% | 1 in 47 | 5.7 million | estimated 2.1% adults (USSG) |
| 132. Cataracts | 2.02% | 1 in 49 | 5.5 million | 5,500,000 people have a cataract interfering with their vision in the US (Research to Prevent Blindness, NISE, NSF) |
| 133. Psoriasis | 2.02% | 1 in 49 | 5.5 million | 5.5 million people in the USA (NIAMS) |
| 134. Autoimmune thyroid diseases | 2.00% | 1 in 50 | 5.4 million | 4 out of 100 women some type of autoimmune thyroid disease |
| 135. Borderline Personality Disorder | 2.00% | 1 in 50 | 5.4 million | 2 percent of adults (NIMH) |
| 136. Cyclic vomiting syndrome | 2.00% | 1 in 50 | 5.4 million | 1 in 50 children (perhaps) |
| 137. Penicillin allergy | 2.00% | 1 in 50 | 5.4 million | 2-3% of people (2-3% of hospitalized patients) |
| 138. Mitral-valve prolapse | 2.00% | 1 in 50 | 5.4 million | 2% of the adult population (NHLBI estimate) |
| 139. Hereditary nonpolyposis colon cancer | 2.00% | 1 in 50 | 5.4 million | 2-7% of all colorectal cancers are due to hereditary nonpolyposis colorectal cancer |
| 140. Social phobia | 1.95% | 1 in 51 | 5.3 million | 5.3 million adult Americans (NIMH); 3.7% adults (NIMH); 2.0% adults (USSG) |
| 141. Bunions | 1.92% | 1 in 51 | 5.2 million | 19.25 per 1000 - NHIS95 (trouble with bunions) |
| 142. Post-traumatic stress disorder | 1.91% | 1 in 52 | 5.2 million | 5.2 million adult Americans (NIMH); 3.6% adults (NIMH); about 30% of war veterans. |
| 143. Female genital disorders | 1.90% | 1 in 52 | 5.2 million | 38 per 1000 women (NHIS95) |
| 144. Irritable bowel syndrome | 1.84% | 1 in 54 | 5 million | 5 million in the USA 1987 (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, US Government Printing Office, 1994); 11 per 1000 (NHIS95) |
| 145. Peptic Ulcer | 1.84% | 1 in 54 | 5 million | 5 million in the USA 1987 (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, 1994) |
| 146. Eating disorders | 1.84% | 1 in 54 | 5 million | 5 million women (NWHIC); 1-4% of young women |
| 147. Heart failure | 1.76% | 1 in 56 | 4.8 million | 4.8 million (NHLBI); 2 to 3 million Americans (NHLBI) |
| 148. Congestive Heart Failure | 1.76% | 1 in 56 | 4.8 million | 4.8 million Americans (NHLBI); 2% age 40-59; 5% age 60-69; 10% over 70's |
| 149. Atherosclerosis | 1.70% | 1 in 58 | 4.6 million | 17 per 1000 - NHIS95 |
| 150. Learning disabilities | 1.69% | 1 in 59 | 4.6 million | 4.6 million children (NHIS-97) |
| 151. Stroke | 1.69% | 1 in 59 | 4.6 million | estimated 4.6 million (NHLBI) |
| 152. Abdominal Hernia | 1.65% | 1 in 60 | 4.5 million | 4.5 million people in the USA 1988-90 (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, NIDDK, 1994) |
| 153. Constipation | 1.62% | 1 in 61 | 4.4 million | 4.4 million people in the USA 1983-87 (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, NIDDK, 1994) |
| 154. Edema | 1.60% | 1 in 62 | 4.4 million | 1.6% of population self-reported having oedema in Australia 2001 (ABS 2001 National Health Survey, Australia’s Health 2004, AIHW) |
| 155. Tachycardia | 1.60% | 1 in 62 | 4.4 million | 16 per 1000 (NHIS95) |
| 156. Kidney conditions | 1.50% | 1 in 66 | 4.1 million | 15 per 1000 (NHIS95: "kidney trouble") |
| 157. Alzheimer's Disease | 1.47% | 1 in 68 | 4 million | more than 4 million Americans (CDC); estimated 4 million people in the U.S (NHWIC) |
| 158. Drug abuse | 1.47% | 1 in 68 | 4 million | more than 4 million women need treatment for drug abuse (NWHIC) |
| 159. Generalized anxiety disorder | 1.47% | 1 in 68 | 4 million | 4 million adult Americans (NIMH); 2.8% adults (NIMH); estimated 3.4% adults (USSG) |
| 160. Chronic Hepatitis C | 1.47% | 1 in 68 | 4 million | Almost 4 million Americans have antibodies indicating infection or prior exposure (NIDDK). |
| 161. Deafness | 1.47% | 1 in 68 | 4 million | 4 million people (unreliable estimate) |
| 162. Thrombotic thrombocytopenic purpura, acquired | 1.47% | 1 in 68 | 4 million | estimated 4-7 million people are diagnosed with thrombotic thrombocytopenic purpura each year in the US, Genetics Home Reference website |
| 163. Fibromyalgia | 1.36% | 1 in 73 | 3.7 million | 3.7 million Americans (NIAMS) |
| 164. Color blindness | 1.30% | 1 in 76 | 3.5 million | 13 per 1000 - NHIS95 |
| 165. Anemia | 1.29% | 1 in 77 | 3.5 million | 3.5 million (NHLBI) |
| 166. ADD | 1.21% | 1 in 82 | 3.3 million | 3.3 million children have ADD in the USA (NHIS-97); estimated 2 million American children; 3 to 5 percent of all children (NIMH). |
| 167. ADHD | 1.21% | 1 in 82 | 3.3 million | 3.3 million children have ADD in the USA (NHIS-97); estimated 2 million American children; 3 to 5 percent of all children (NIMH). |
| 168. Attention Deficit Hyperactivity Disorder | 1.21% | 1 in 82 | 3.3 million | 3.3 million children have ADD in USA (NHIS-97); estimated 2 million American children; 3 to 5 percent of all children (NIMH). |
| 169. Obsessive-compulsive disorder | 1.21% | 1 in 82 | 3.3 million | 3.3 million adult Americans (NIMH); 2.3% adults (NIMH); 1 in 50 people (NWHIC); 2.4% adults (USSG) |
| 170. Bipolar disorder | 1.20% | 1 in 83 | 3.3 million | 1.2 percent of the population; 2.3 million adult Americans (NIMH) |
| 171. Agoraphobia | 1.18% | 1 in 84 | 3.2 million | approximately 3.2 million American adults ages 18 to 54 (NIMH); estimated 4.9% adults (USSG) |
| 172. Graves Disease | 1.12% | 1 in 89 | 3 million | 3,048,636 people in the USA 1996 1; 1.3 million people (NWHIC) |
| 173. Von Willebrand disease | 1.10% | 1 in 90 | 3 million | estimated 3 million mostly undiagnosed |
| 174. Open-angle glaucoma | 1.10% | 1 in 90 | 3 million | about 3 million Americans, many not yet diagnosed. |
| 175. Peanut allergies | 1.10% | 1 in 90 | 3 million | 3 million Americans (peanut and tree nut combined; NIAID) |
| 176. Dental conditions | 1.10% | 1 in 90 | 2 million | 1.1 per 100 (NHIS96: acute dental conditions) |
| 177. Stuttering | 1.00% | 1 in 100 | 2.7 million | about 1% of adults |
| 178. Deuteranopia | 1.00% | 1 in 100 | 2.7 million | about 1% of white males |
| 179. Protanopia | 1.00% | 1 in 100 | 2.7 million | about 1% of white males |
| 180. Food allergies | 1.00% | 1 in 100 | 2.7 million | 1% of the adult population have a true immune reaction to food (NHWIC) |
| 181. Latex allergies | 1.00% | 1 in 100 | 2.7 million | 1-6% (NIAID) |
| 182. Speech impairment | 1.00% | 1 in 100 | 2.7 million | 10 per 1000 (NHIS95) |
| 183. Glomus vagale tumors | 1.00% | 1 in 100 | 2.7 million | 1% of glomus tumors are malignant |
| 184. Gastritis | 0.99% | 1 in 100 | 2.7 million | 2.7 million people in the USA 1988 (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, NIDDK, 1994) |
| 185. Rheumatoid arthritis | 0.92% | 1 in 108 | 2.5 million | 2.5 million Americans (NWHIC); 1% of US population (NIAMS) |
| 186. Paralysis | 0.90% | 1 in 111 | 2.4 million | 9 per 1000 - NHIS95 (paralysis of extremeties complete/partial) |
| 187. Panic disorder | 0.88% | 1 in 113 | 2.4 million | approximately 2.4 million Americans (NIMH) |
| 188. Vision Impairment | 0.88% | 1 in 113 | 2.4 million | 2.4 million Americans |
| 189. Epilepsy | 0.85% | 1 in 118 | 2.3 million | 2.3 million Americans (CDC) |
| 190. Uveitis | 0.85% | 1 in 118 | 2.3 million | 2,300,000 people suffer uveitis in the US (Research to Prevent Blindness, NISE, NSF) |
| 191. Schizophrenia | 0.81% | 1 in 123 | 2.2 million | Approximately 2.2 million American adults (NIMH); estimated 1.3% adults (USSG); more than 2 million Americans |
| 192. Deviated Septum | 0.80% | 1 in 124 | 2.2 million | 8 per 1000 - NHIS95 |
| 193. Glaucoma | 0.74% | 1 in 136 | 2 million | 2,000,000 people are visually impaired by glaucoma in the US (Research to Prevent Blindness, NISE, NSF) |
| 194. Vitiligo | 0.74% | 1 in 136 | 2 million | 2 to 5 million people in the USA (1-2% worldwide); 1,059,560 people in the USA 1996 1 |
| 195. Diverticular Disease | 0.74% | 1 in 136 | 2 million | 2 million people in the USA 1983-87 (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, NIDDK, 1994) |
| 196. Hepatitis C | 0.74% | 1 in 136 | 2 million | estimated 2 to 5 million HCV chronic carriers |
| 197. Alcoholic liver disease | 0.74% | 1 in 136 | 2 million | More than 2 million Americans (NIAAA) |
| 198. Emphysema | 0.74% | 1 in 136 | 2 million | 2 million Americans (NHLBI); 17 per 1000 - NHIS95; 2 million annually |
| 199. Atrial Fibrillation | 0.74% | 1 in 136 | 2 million | 2 million (NHLBI) |
| 200. Polymyalgia rheumatica | 0.70% | 1 in 142 | 1.9 million | 700 per 100,000 people over 50. |
| 201. Chronic tonsilitis | 0.70% | 1 in 142 | 1.9 million | 7 per 1000 - NHIS95 (chronic disease of tonsils or adenoids) |
| 202. Amputation | 0.70% | 1 in 142 | 1.9 million | 7 per 1000 (NHIS95: excludes toes/fingers only) |
| 203. Binge eating disorder | 0.70% | 1 in 142 | 1.9 million | 0.7% to 4% of the general population (NWHIC); 2-5% of adults (NIMH); 2% of adults (NIDDK); 2% adults or 1-2 million adults (NWHIC) |
| 204. Retina Conditions | 0.66% | 1 in 151 | 1.8 million | 1,800,000 people have severely impaired vision because of retinal disease in the US (Research to Prevent Blindness, NISE, NSF) |
| 205. Hepatitis B | 0.55% | 1 in 181 | 1.5 million | estimated 1.5 million HBV carriers in the U.S. (NWHIC); 417,000 people currently infected (CDC 2001) |
| 206. Bulimia nervosa | 0.55% | 1 in 181 | 1.5 million | estimated 1.1 to 4.2 percent of females (NIMH); 2-3% of young women (NWHIC) |
| 207. Hashimoto's Thyroiditis | 0.55% | 1 in 182 | 1.5 million | 1,490,371 adults and 205,159 children in the USA 1996 1 |
| 208. Lupus | 0.51% | 1 in 194 | 1.4 million | 1.4 million people in the United States, 1 in 85 (NWHIC) |
| 209. Wegener's granulomatosis | 0.50% | 1 in 200 | 1.4 million | uncommon |
| 210. HTLV | 0.50% | 1 in 200 | 1.4 million | uncommon |
| 211. HTLV-1 | 0.50% | 1 in 200 | 1.4 million | uncommon |
| 212. Peyronie's disease | 0.50% | 1 in 200 | 1.4 million | 1 per 100 men |
| 213. Sebaceous cyst | 0.50% | 1 in 200 | 1.4 million | 5 per 1000 - NHIS95 |
| 214. Cerebral cavernous malformations | 0.50% | 1 in 200 | 1.4 million | 0.5% of people suffer from cerebral cavernous malformations worldwide, Genetics Home Reference website |
| 215. Bladder Incontinence (Pregnancy) | 0.49% | 1 in 203 | 1.3 million | 1-in-3 pregnant women approximately |
| 216. Blindness | 0.40% | 1 in 247 | 1.1 million | 1,100,000 people are legally blind in the US (Research to Prevent Blindness, NISE, NSF) |
| 217. Celiac Disease | 0.40% | 1 in 249 | 1.1 million | 1 in 250 Americans estimated rate; actual diagnosis rate is 1 in 4,700 Americans; 1 in 250 in Italy; 1 in 300 in Ireland; 20,000 diagnosed (Reader's Digest Feb 2004) |
| 218. 2-methylbutyryl-coenzyme A dehydrogenase deficiency | 0.40% | 1 in 249 | 1.1 million | 1 per 250 - 500 people from Hmong populations in southeast Asia and America suffer from 2-methylbutyryl-coenzyme A dehydrogenase deficiency though many are asymptomatic, Genetics Home Reference website |
| 219. Familial Mediterranean fever | 0.40% | 1 in 249 | 1.1 million | estimated 1 per 250 - 1,000 people of Armenian, Arabic, Turkish, Jewish and Mediterranean ancestry suffer from Familial Mediterranean Fever, Genetics Home Reverence website |
| 220. Sjogren's Syndrome | 0.37% | 1 in 272 | 1 million | 1 to 4 million people with Sjogren’s Syndrome (NIAMS) |
| 221. Connective tissue disorders | 0.37% | 1 in 272 | 1 million | estimated 1 million people in USA with heritable connective tissue disorder (NIAMS) |
| 222. Congenital heart defects | 0.37% | 1 in 272 | 1 million | 1 million (NHLBI) |
| 223. Aphasia | 0.37% | 1 in 272 | 1 million | 1 million Americans (NINDS) |
| 224. Hemochromatosis | 0.37% | 1 in 272 | 1 million | more than 1 million Americans (CDC); 5 per 1000 in Caucasians (NIDDK); 1-in-200 to 1-in-300 |
| 225. Parkinson's Disease | 0.37% | 1 in 272 | 1 million | 1 million people (unreliable estimate) |
| 226. Heritable Disorders of Connective Tissue | 0.37% | 1 in 272 | 1 million | estimated 1 million people in USA with heritable connective tissue disorder (NIAMS) |
| 227. Hemochromatosis type 1 | 0.37% | 1 in 272 | 1 million | 1 million people suffer from hemochromatosis type 1 in the US, Genetics Home Reference website |
| 228. Selective IgA Deficiency | 0.33% | 1 in 300 | 906,666 | 1 in 300 (NIDCD); 1 in 600 (NIAID); 1 in 333 Caucasians. |
| 229. Multiple endocrine neoplasia type 2 | 0.33% | 1 in 300 | 906,666 | about 1 per 300 000 people suffer from multiple endocrine neoplasia type 1 in the US, Genetics Home Reference website |
| 230. Glutaricaciduria I | 0.33% | 1 in 300 | 906,666 | estimated 1 per 300 people from the Ojibwa population of Canada suffer from glutaric academia type I, Genetics Home Reference website |
| 231. HIV/AIDS | 0.33% | 1 in 302 | 900,000 | 900,000 Americans (NIAID, quarter are unaware) |
| 232. Interstitial cystitis | 0.31% | 1 in 321 | 847,000 | 847,000 in the USA 1988-1994 (Weighted Analysis of 1988-1994 National Health and Nutrition Survey, 2003) |
| 233. Neuralgia | 0.30% | 1 in 333 | 816,000 | 3 per 1000 - NHIS95 (neuralgia or neuritis unspecified) |
| 234. Scoliosis | 0.30% | 1 in 333 | 816,000 | 3-per-1,000 to 5-per-1000 children (NIAMS) |
| 235. Variegate porphyria | 0.30% | 1 in 333 | 816,000 | approximately 3 per 1,000 white South Africans suffer from variegate porphyria, Genetics Home Reference website |
| 236. Chronic Hepatitis B | 0.28% | 1 in 362 | 750,000 | 750,000 people in the United States (NIAID) |
| 237. Gout | 0.28% | 1 in 363 | 748,000 | 275 per 100,000 people (NIAMS) |
| 238. Maple syrup urine disease | 0.26% | 1 in 384 | 706,493 | estimated 1 per 385 infants suffer from maple syrup urine disease in the Old Order Mennonite population, Genetics Home Reference website |
| 239. Red-green color vision defects | 0.25% | 1 in 400 | 680,000 | estimated 0.5% of females of Northern European ancestry suffer from red-green color vision defects, Genetics Home Reference website |
| 240. Bacterial vaginosis | 0.24% | 1 in 424 | 640,000 | 16% of pregnant women (DSTD) |
| 241. Polycystic kidney disease | 0.22% | 1 in 453 | 600,000 | 600,000 Americans |
| 242. Inflammatory bowel disease | 0.20% | 1 in 500 | 544,000 | 1 in 500 (NIAID); 300,000 people to 500,000 people NIDDK |
| 243. Klinefelter syndrome | 0.20% | 1 in 500 | 544,000 | 1 per 500 - 1,000 males are affected by Klinefelter syndrome, Genetics Home Reference website |
| 244. Autism | 0.20% | 1 in 500 | 544,000 | 1 in 500 to 1 in 2,500 (NIMH); 1-in-1000 to 2-in-1000, depending on diagnostic criteria |
| 245. Nonaffective Psychosis | 0.20% | 1 in 500 | 544,000 | estimated 0.2% adults (USSG) |
| 246. Somatization Disorder | 0.20% | 1 in 500 | 544,000 | estimated 0.2% adults (USSG) |
| 247. Traumatic Brain Injury | 0.20% | 1 in 500 | 544,000 | 0.2% of population has an acquired brain injury in Australia 1998 (Australia’s Health 2004, AIHW) |
| 248. Temporal arteritis | 0.20% | 1 in 500 | 544,000 | 200 per 100,000 people over 50. |
| 249. Hypertrophic cardiomyopathy | 0.20% | 1 in 500 | 544,000 | 0.2 percent of the U.S. population |
| 250. Gaucher disease type 1 | 0.20% | 1 in 500 | 544,000 | 1 per 500 - 1,000 people of Ashkenazi Jewish heritage are affected by type 1 Gaucher disease, Genetics Home Reference website |
| 251. Heterozygous Familial Hypercholesterolemia | 0.20% | 1 in 500 | 544,000 | 1 per 500 US people suffer from Heterozygous familial hypercholesterolemia. |
| 252. Autosomal dominant polycystic kidney disease | 0.20% | 1 in 503 | 540,000 | 540,000 Americans approximately (90% of PKD) |
| 253. Crohn's disease | 0.18% | 1 in 544 | 500,000 | 500,000 Americans |
| 254. Chronic Fatigue Syndrome | 0.18% | 1 in 544 | 500,000 | 500,000 Americans (CDC/NIAID) |
| 255. Liver conditions | 0.15% | 1 in 679 | 400,000 | 400,000 people in the USA 1976-80 for "chronic liver disease and cirrhosis" (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, NIDDK, 1994) |
| 256. Chronic liver disease | 0.15% | 1 in 679 | 400,000 | 400,000 people |
| 257. Cirrhosis of the liver | 0.15% | 1 in 679 | 400,000 | 400,000 people in the USA 1976-80 for "chronic liver disease and cirrhosis" (Digestive diseases in the United States: Epidemiology and Impact – NIH Publication No. 94-1447, NIDDK, 1994) |
| 258. Ocular Herpes | 0.15% | 1 in 679 | 400,000 | 400,000 Americans have had some form |
| 259. Pernicious anemia | 0.15% | 1 in 680 | 399,454 | 399,455 people in the USA 1996 1 |
| 260. End-stage renal disease | 0.14% | 1 in 693 | 392,022 | 392,023 people in the USA 2001 (United States Renal Data System 2003 Annual Data Report, 2003) |
| 261. Multiple Sclerosis | 0.14% | 1 in 700 | 388,571 | 1-in-700 (NIAID) |
| 262. Ankylosing Spondylitis | 0.13% | 1 in 775 | 350,879 | 129 of every 100,000 people in the US (Mayo Clinic) |
| 263. Type 1 diabetes | 0.12% | 1 in 800 | 340,000 | 1-in-800 (NIAID) |
| 264. Scleroderma | 0.11% | 1 in 906 | 300,000 | estimated 300,000 Americans (NWHIC) |
| 265. Kidney Dialysis | 0.11% | 1 in 946 | 287,493 | 287,494 people in the USA 2001 (United States Renal Data System 2003 Annual Data Report, 2003) |
| 266. Triple-X syndrome | 0.10% | 1 in 1,000 | 272,000 | 1 per 1,000 newborn girls suffer from triple X syndrome, Genetics Home Reference website |
| 267. Sickle Cell Anemia | 0.10% | 1 in 1,000 | 272,000 | estimated 1 per 1,000 Hispanic Americans are affected by sickle cell disease in the US, Genetics Home Reference website |
| 268. Tourette Syndrome | 0.10% | 1 in 1,000 | 272,000 | estimated 1-10 per 1,000 children have Tourette syndrome, Genetics Home Reference website |
| 269. Anorexia Nervosa | 0.10% | 1 in 1,000 | 272,000 | estimated 0.1% adults (USSG); estimated 0.5 to 3.7 percent females (NIMH); 1% of adolescent girls (NWHIC) |
| 270. Wolf-Parkinson-White syndrome | 0.10% | 1 in 1,000 | 272,000 | 1-3 per 1,000 people suffer from Wolff-Parkinson-White syndrome worldwide, Genetics Home Reference website |
| 271. Noonan Syndrome | 0.10% | 1 in 1,000 | 272,000 | estimated 1 per 1,000 - 2,500 people are affected by Noonan syndrome, Genetics Home Reference website |
| 272. Von Hippel-Lindau Disease | 0.07% | 1 in 1,359 | 200,000 | rare |
| 273. Zollinger-Ellison syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 274. Lichen sclerosis | 0.07% | 1 in 1,359 | 200,000 | rare |
| 275. Immune Thrombocytopenic Purpura | 0.07% | 1 in 1,359 | 200,000 | rare. |
| 276. Behcet's Disease | 0.07% | 1 in 1,359 | 200,000 | rare in the USA; more common in Middle East, Asia, and Japan. |
| 277. Penile candidiasis | 0.07% | 1 in 1,359 | 200,000 | rare |
| 278. Ascariasis | 0.07% | 1 in 1,359 | 200,000 | rare |
| 279. Zellweger Syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 280. Congenital SMA with arthrogryposis | 0.07% | 1 in 1,359 | 200,000 | rare |
| 281. Agenesis of the corpus callosum | 0.07% | 1 in 1,359 | 200,000 | rare |
| 282. Aicardi syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 283. Empty Sella Syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 284. Hydranencephaly | 0.07% | 1 in 1,359 | 200,000 | rare |
| 285. Klippel Feil Syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 286. Mobius syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 287. Chediak-Higashi Syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 288. Machado-Joseph Disease | 0.07% | 1 in 1,359 | 200,000 | rare |
| 289. Kearns-Sayre Syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 290. Alpers Syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 291. Agnosia | 0.07% | 1 in 1,359 | 200,000 | rare |
| 292. Alexander Syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 293. Alternating Hemiplegia | 0.07% | 1 in 1,359 | 200,000 | rare |
| 294. Binswanger's Disease | 0.07% | 1 in 1,359 | 200,000 | rare |
| 295. Brown-Sequard Syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 296. Fabry's Disease | 0.07% | 1 in 1,359 | 200,000 | rare |
| 297. Fahr's Syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 298. Hallervorden-Spatz disease | 0.07% | 1 in 1,359 | 200,000 | rare |
| 299. Joubert Syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 300. Krabbé Disease | 0.07% | 1 in 1,359 | 200,000 | rare |
| 301. Landau-Kleffner Syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 302. Microcephaly | 0.07% | 1 in 1,359 | 200,000 | rare |
| 303. Miller Fisher Syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 304. Moyamoya Disease | 0.07% | 1 in 1,359 | 200,000 | rare |
| 305. Parry Romberg Syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 306. Pelizaeus-Merzbacher Disease | 0.07% | 1 in 1,359 | 200,000 | rare |
| 307. Primary Lateral Sclerosis | 0.07% | 1 in 1,359 | 200,000 | rare |
| 308. Progressive Supranuclear Palsy | 0.07% | 1 in 1,359 | 200,000 | rare |
| 309. Rasmussen's Encephalitis | 0.07% | 1 in 1,359 | 200,000 | rare |
| 310. Sandhoff Disease | 0.07% | 1 in 1,359 | 200,000 | rare |
| 311. Schilder's Disease | 0.07% | 1 in 1,359 | 200,000 | rare |
| 312. Septo-Optic Dysplasia | 0.07% | 1 in 1,359 | 200,000 | rare |
| 313. Soto's Syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 314. Stiff-Person Syndrome | 0.07% | 1 in 1,359 | 200,000 | rare |
| 315. Subacute Sclerosing Panencephalitis | 0.07% | 1 in 1,359 | 200,000 | rare - because of the rarity of measles due to vaccination programs. |
| 316. Ménétrier's disease | 0.07% | 1 in 1,359 | 200,000 | rare |
| 317. Goodpasture syndrome | 0.07% | 1 in 1,359 | 200,000 | rare. |
| 318. Encephaloceles | 0.07% | 1 in 1,359 | 200,000 | rare |
| 319. Narcolepsy | 0.07% | 1 in 1,359 | 200,000 | 200,000 Americans (NHLBI estimate); 50,000 diagnosed. |
| 320. Mastocytosis | 0.07% | 1 in 1,359 | 200,000 | rare |
| 321. Cutaneous mastocytosis | 0.07% | 1 in 1,359 | 200,000 | rare |
| 322. Restrictive cardiomyopathy | 0.07% | 1 in 1,359 | 200,000 | rare |
| 323. Charcot-Marie-Tooth Disorder | 0.06% | 1 in 1,813 | 150,000 | 150,000 people are affected by Charcot-Marie-Tooth disease in the US, Genetics Home Reference website |
| 324. Hepatorenal tyrosinemia | 0.05% | 1 in 1,845 | 147,345 | 1 per 1,846 people from the Saguenay-La St. Jean region of Quebec suffer from tyrosinemia type 1, Genetics Home Reference website |
| 325. Ménière's disease | 0.05% | 1 in 1,973 | 137,847 | about 10,000 people in Australia |
| 326. Jacobs syndrome | 0.05% | 1 in 2,000 | 136,000 | 1-in-2000 approximately. |
| 327. Keratoconus | 0.05% | 1 in 2,000 | 136,000 | 1-in-2000 Americans |
| 328. Brugada Syndrome | 0.05% | 1 in 2,000 | 136,000 | estimated 5 per 10,000 people suffer from Brugada syndrome worldwide, Genetic Home Reference website |
| 329. 47 XYY syndrome | 0.05% | 1 in 2,000 | 136,000 | 1 per 1,000 males are born with 47,XYY syndrome, Genetics Home Reference website |
| 330. Turner Syndrome | 0.04% | 1 in 2,500 | 108,800 | 1 per 2,500 live female births are affected by Turner syndrome, Genetics Home Reference website |
| 331. Autoimmune Lymphoproliferative Syndrome | 0.04% | 1 in 2,719 | 100,000 | very rare; NIAID mentions 58 individuals |
| 332. Neonatal lupus | 0.04% | 1 in 2,719 | 100,000 | very rare |
| 333. Androgen Insensitivity Syndrome | 0.04% | 1 in 2,719 | 100,000 | very rare |
| 334. Porencephaly | 0.04% | 1 in 2,719 | 100,000 | extremely rare |
| 335. Schizencephaly | 0.04% | 1 in 2,719 | 100,000 | extremely rare |
| 336. Retinitis Pigmentosa | 0.04% | 1 in 2,719 | 100,000 | 100,000 people have retinitis pigmentosa which can cause retinal deterioration and blindness in the US (Research to Prevent Blindness, NISE, NSF) |
| 337. Neurofibromatosis-1 | 0.03% | 1 in 3,000 | 90,666 | 1 per 3,000 - 4,000 people suffer from neurofibromatosis type 1 worldwide, Genetics Home Reference website |
| 338. Congenital hypothyroidsim | 0.03% | 1 in 3,000 | 90,666 | 1 per 3,000 - 4,000 newborns are affected by congenital hypothyroidsim in North America, Europe, Japan and Australia, Genetics Home Reference website |
| 339. Vagina cancer | 0.03% | 1 in 3,333 | 81,600 | 3 in 10,000 for DES-related cases of vaginal cancer. |
| 340. Diethylstilbestrol | 0.03% | 1 in 3,333 | 81,600 | 3 per 10,000 with a risk of vaginal cancer; probably higher if include other complications of DES |
| 341. Muscular dystrophy, Duchenne and Becker type | 0.03% | 1 in 3,500 | 77,714 | 1 per 3,500 - 5,000 male newborns suffer from muscular dystrophy, Duchenne and Becker types, Genetics Home Reference website |
| 342. Hereditary sensory and autonomic neuropathy 3 | 0.03% | 1 in 3,700 | 73,513 | estimated 1 per 3,700 people of Ashkenazi Jewish ancestry suffer from familial dysautonomia, Genetics Home Reference website |
| 343. Familial emphysema | 0.03% | 1 in 3,885 | 70,000 | 70,000 Americans |
| 344. Chromosome 22q11.2 deletion syndrome | 0.03% | 1 in 4,000 | 68,000 | estimated 1 per 4,000 newborns are affected by chromosome 22q11.2 deletion syndrome, Genetics Home Reference website |
| 345. Multiple Myeloma | 0.02% | 1 in 4,317 | 63,000 | about 63,000 people affected by multiple myeloma ("Orphan Products: Hope for People With Rare Diseases", By Carol Rados, FDA Consumer magazine, November-December 2003 Issue) |
| 346. Primary Glomerulonephritis | 0.02% | 1 in 4,428 | 61,422 | 61,423 people with Primary Glomerulonephritis in the USA 1996 1 |
| 347. IgA nephropathy | 0.02% | 1 in 4,428 | 61,422 | 61,423 people in the USA 1996 1 |
| 348. Edwards Syndrome | 0.02% | 1 in 5,000 | 54,400 | 1 per 5,000 - 6,000 newborns are affected by Trisomy 18, Genetics Home Reference website |
| 349. Sarcoidosis | 0.02% | 1 in 5,000 | 54,400 | 20 per 100,000 overall; 5 in 100,000 white people; 40 out of 100,000 black people; Scandinavia 64 out of 100,000 people |
| 350. Marfan syndrome | 0.02% | 1 in 5,000 | 54,400 | 1 per 5,000 people are affected by Marfan syndrome worldwide, Genetics Home Reference website |
| 351. Alpha 1-Antitrypsin Deficiency | 0.02% | 1 in 5,000 | 54,400 | 1 per 5,000 - 7,000 people suffer from alpha-1 antitrypsin deficiency in North America, Genetics Home Reference website |
| 352. Hereditary hemorrhagic telangiectasia | 0.02% | 1 in 5,000 | 54,400 | estimated 1 per 5,000 - 10,000 people suffer from hereditary hemorrhagic telangiectasia worldwide, Genetics Home Reference website |
| 353. Cardiomyopathy | 0.02% | 1 in 5,439 | 50,000 | 50,000 Americans (NHLBI) |
| 354. Spinal Muscular Atrophy | 0.02% | 1 in 6,000 | 45,333 | 1 per 6,000 - 10,000 people suffer from spinal muscular atrophy, Genetics Home Reference website |
| 355. Dentinogenesis | 0.02% | 1 in 6,000 | 45,333 | estimated 1 per 6,000 - 8,000 people suffer from dentinogenesis imperfecta, Genetics Home Reference website |
| 356. Canavan disease | 0.02% | 1 in 6,400 | 42,500 | 1 per 6,400 - 13,500 people of Ashkenazi Jewish heritage suffer from Canavan disease, Genetics Home Reference website |
| 357. Neonatal Respiratory Distress Syndrome | 0.01% | 1 in 6,800 | 40,000 | 40,000 infants and 150,000 adults with adult RDS (NHLBI) |
| 358. Romano-Ward syndrome | 0.01% | 1 in 7,000 | 38,857 | estimated 1 per 7,000 people suffer from Romano-Ward syndrome worldwide, Genetics Home Reference website |
| 359. Williams Syndrome | 0.01% | 1 in 7,500 | 36,266 | estimated 1 per 7,500 - 20,000 people suffer from Williams syndrome, Genetics Home Reference website |
| 360. Stickler Syndrome | 0.01% | 1 in 7,500 | 36,266 | estimated 1 per 7,500 - 9,000 newborns suffer from Stickler syndrome, Genetics Home Reference website |
| 361. Tuberous sclerosis | 0.01% | 1 in 10,000 | 27,200 | less than 1 in 10,000 |
| 362. Prader-Willi syndrome | 0.01% | 1 in 10,000 | 27,200 | estimated 1 per 10,000 - 25,000 people suffer from Prader-Willi syndrome, Genetics Home Reference website |
| 363. Phenylketonuria | 0.01% | 1 in 10,000 | 27,200 | 1 per 10,000 - 15,000 newborns are diagnosed with phenylketonuria in the US, Genetics Home Reference website |
| 364. Rett's syndrome | 0.01% | 1 in 10,000 | 27,200 | estimated 1 per 10,000 - 22,000 females suffer from Rett syndrome, Genetics Home Reference website |
| 365. Cornelia de Lange Syndrome | 0.01% | 1 in 10,000 | 27,200 | estimated 1 per 10,000 - 30,000 newborns suffer from Cornelia de Lange syndrome, Genetics Home Reference website |
| 366. Cystinuria | 0.01% | 1 in 10,000 | 27,200 | approximately 1 per 10,000 people are affected by cystinuria, Genetics Home Reference website |
| 367. Chromosome 13 trisomy syndrome | 0.01% | 1 in 10,000 | 27,200 | estimated 1 per 10,000 newborns are affected by Trisomy 13, Genetics Home Reference website |
| 368. Congenital myopathy | 0.01% | 1 in 10,000 | 27,200 | estimated 1 per 10,000 people from Scandinavia suffer from myotonia congenita worldwide, Genetics Home Reference website |
| 369. Blue-yellow color vision defects | 0.01% | 1 in 10,000 | 27,200 | estimated 1 per 10,000 people suffer from blue-yellow color vision defects worldwide, Genetics Home Reference website |
| 370. 2-methylglutaconic aciduria type 3 | 0.01% | 1 in 10,000 | 27,200 | 1 per 10,000 newborns from Iraqi Jewish populations suffer from 2-methylglutaconic aciduria type 3, Genetics Home Reference website |
| 371. Waardenburg syndrome | 0.01% | 1 in 10,000 | 27,200 | estimated 1 per 10,000 - 20,000 people suffer from Waardenburg syndrome, Genetics Home Reference website |
| 372. Angelman syndrome | 0.01% | 1 in 12,000 | 22,666 | 1 per 12,000 - 20,000 people are affected by Angelman syndrome, Genetics Home Reference website |
| 373. Adrenal hypoplasia congenital, X-linked | 0.01% | 1 in 12,500 | 21,760 | 1 per 12,500 newborns suffer from adrenal hypoplasia congenita in the US, Genetics Home Reference website |
| 374. Uterine Cancer | 0.01% | 1 in 13,333 | 20,400 | 4,500 women in the UK 2001 (National Statistics, UK Government Census, 2001) |
| 375. Hemophilia | 0.01% | 1 in 13,600 | 20,000 | 20,000 people in the United States (NHLBI) |
| 376. Amelogenesis Imperfecta | 0.01% | 1 in 14,000 | 19,428 | estimated 1 per 14,000 people suffer from amelogenesis imperfecta in the US, Genetics Home Reference website |
| 377. Coffin-Lowry syndrome | 0.01% | 1 in 14,285 | 19,040 | estimated 7 per 100,000 people have Coffin-Lowry syndrome in western Europe and North America, Genetics Home Reference website |
| 378. Smith-Magenis Syndrome | 0.01% | 1 in 15,000 | 18,133 | 1 per 15,000 undiagnosed and diagnosed people are affected by Smith-Magenis syndrome worldwide , Genetics Home Reference website |
| 379. Hypochondroplasia | 0.01% | 1 in 15,000 | 18,133 | estimated 1 per 15,000 - 40,000 newborns suffer from hypochondroplasia, Genetics Home Reference website |
| 380. Fragile-X Syndrome | 0.01% | 1 in 16,000 | 17,000 | approximately 1 per 8,000 females suffer from fragile X syndrome, Genetics Home Reference website |
| 381. Osteogenesis imperfecta | 0.01% | 1 in 16,666 | 16,320 | 6-7 per 100,000 people are affected by osteogenesis imperfecta worldwide, Genetics Home Reference website |
| 382. Usher Syndrome | 0.01% | 1 in 17,000 | 16,000 | 16,000 Americans |
| 383. Medium-Chain Acyl-CoA Dehydrogenase Deficiency | 0.01% | 1 in 17,000 | 16,000 | 1 per 17,000 people suffer from medium-chain acyl-CoA dehydrogenase deficiency in the US, Genetics Home Reference website |
| 384. Alkaptonuria | 0.01% | 1 in 19,000 | 14,315 | 1 per 19,000 people suffer from alkaptonuria in parts of Slovakia, Genetics Home Reference website |
| 385. Myasthenia Gravis | 0.00% | 1 in 20,000 | 13,600 | about 5 per 100,000 to 14 per 100,000 (NWHIC) |
| 386. Adrenoleukodystrophy | 0.00% | 1 in 20,000 | 13,600 | 1 per 20,000 people suffer from X-linked adrenoleukodystrophy, Genetics Home reference website |
| 387. Autosomal Recessive Polycystic Kidney Disease | 0.00% | 1 in 20,000 | 13,600 | estimated 1 per 20,000 - 40,000 people suffer from the autosomal recessive type of polycystic kidney disease, Genetics Home Reference website |
| 388. Werner syndrome | 0.00% | 1 in 20,000 | 13,600 | 1 per 20,000 - 40,000 people suffer from Werner syndrome in Japan, Genetics Home Reference website |
| 389. Smith-Lemli-Opitz Syndrome | 0.00% | 1 in 20,000 | 13,600 | estimated 1 per 20,000 - 40,000 newborns suffer from Smith-Lemli-Opitz syndrome, Genetics Home Reference website |
| 390. Alagille Syndrome | 0.00% | 1 in 20,000 | 13,600 | 1 per 20,000 - 70,000 people suffer from Alagille syndrome, Genetics Home Reference website |
| 391. Polycystic kidney disease type 1 | 0.00% | 1 in 20,000 | 13,600 | estimated 1 per 20,000 - 40,000 people are affected by autosomal dominant polycystic kidney disease, Genetics Home Reference website |
| 392. Oculocutaneous albinism | 0.00% | 1 in 20,000 | 13,600 | estimated 1 per 20,000 people suffer from oculocutaneous albinism, Genetic Home Reference website |
| 393. Thanatophoric dysplasia | 0.00% | 1 in 20,000 | 13,600 | 1 per 20,000 - 50,000 newborns are affected by Thanatophoric dysplasia, Genetics Home Reference website |
| 394. Dermatomyositis | 0.00% | 1 in 20,205 | 13,461 | 13,462 people with polymyositis/dermatomyositis in the USA 1996 1 |
| 395. Acromegaly | 0.00% | 1 in 25,000 | 10,880 | 40-60 per million affected people at any time |
| 396. Pseudoxanthoma elasticum | 0.00% | 1 in 25,000 | 10,880 | 1 per 25,000 - 100,000 people are affected by pseudoxanthoma elasticum, Genetics Home Reference website |
| 397. Neurofibromatosis-2 | 0.00% | 1 in 25,000 | 10,880 | 1 per 25,000 people suffer from neurofibromatosis type 2, Genetics Home Reference website |
| 398. Usher Syndrome Type 1 | 0.00% | 1 in 25,000 | 10,880 | more than 4 per 100,000 people suffer from Usher syndrome type I, Genetics Home Reference website |
| 399. Cystinosis | 0.00% | 1 in 26,000 | 10,461 | 1 per 26,000 newborns suffer from cystinosis in the Brittany province in France, Genetics Home Reference website |
| 400. Primary biliary cirrhosis | 0.00% | 1 in 29,462 | 9,231 | 9,232 people in the USA 1996 1 |
| 401. Wilson's Disease | 0.00% | 1 in 30,000 | 9,066 | approximately 1 per 30,000 people suffer from Wilson disease, Genetics Home Reference website |
| 402. Muenke Syndrome | 0.00% | 1 in 30,000 | 9,066 | estimated 1 per 30,000 newborns suffer from Muenke syndrome, Genetics Home Reference website |
| 403. Galactosemia I | 0.00% | 1 in 30,000 | 9,066 | 1 per 30,000 liver births are affected by inherited galactosemia, Genetics Home Reference website |
| 404. Achromatopsia type 1 | 0.00% | 1 in 30,000 | 9,066 | estimated 1 per 30,000 people suffer from complete achromatopsia, Genetics Home Reference website |
| 405. Familial polyposis, autosomal recessive | 0.00% | 1 in 30,000 | 9,066 | 1 per 30,000 people are affected by familial adenomatous polyposis in the US, Genetics Home Reference website |
| 406. Leber hereditary optic neuropathy | 0.00% | 1 in 30,000 | 9,066 | 1 per 30,000 - 50,000 people suffer from Leber hereditary optic neuropathy in northeast England and Finland, Genetics Home Reference website |
| 407. Cystic Fibrosis | 0.00% | 1 in 31,000 | 8,774 | 1 per 31,000 Asian American newborns suffer from cystic fibrosis in the US, genetics Home Reference website |
| 408. Huntington's Disease | 0.00% | 1 in 33,333 | 8,160 | estimated 3-7 per 100,000 people of European ancestry suffer from Huntington disease, Genetics Home Reference website |
| 409. Multiple endocrine neoplasia type 1 | 0.00% | 1 in 33,333 | 8,160 | 3 per 100,000 up to 20 per 100,000 (NIDDK) |
| 410. Osteogenesis imperfecta Type I | 0.00% | 1 in 33,333 | 8,160 | 3-4 per 100,000 people are affected by osteogenesis imperfecta type I worldwide, Genetics Home Reference website |
| 411. Osteogenesis imperfecta type IV | 0.00% | 1 in 33,333 | 8,160 | 3-4 per 100,000 people are affected by osteogenesis imperfecta type IV worldwide, Genetics Home Reference website |
| 412. Ataxia Telangiectasia | 0.00% | 1 in 40,000 | 6,800 | 1 per 40,000 - 100,000 people worldwide suffer from ataxia-telangiectasia, Genetics Home Reference website |
| 413. Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency | 0.00% | 1 in 40,000 | 6,800 | 1 per 40,000 - 120,000 people suffer from very long-chain acyl-CoA dehydrogenase deficiency, Genetics Home Reference website |
| 414. Short-Chain Acyl-CoA Dehydrogenase Deficiency | 0.00% | 1 in 40,000 | 6,800 | 1 per 40,000 - 100, 000 newborns suffer from short-chain acyl-CoA dehydrogenase deficiency in the US, Genetics Home Reference website |
| 415. Pompe disease | 0.00% | 1 in 40,000 | 6,800 | 1 per 40,000 people suffer from Pompe disease, Genetics Home Reference website |
| 416. Carnitine transporter deficiency | 0.00% | 1 in 40,000 | 6,800 | 1 per 40,000 newborns suffer from primary carnitine deficiency in Japan, Genetics Home Reference website |
| 417. Achondrogenesis | 0.00% | 1 in 40,000 | 6,800 | 1 per 40,000 - 60,000 people are affected by achondrogenesis type 2 and hypochondrogenesis, Genetics Home Reference website |
| 418. Niemann-Pick disease, type A | 0.00% | 1 in 40,000 | 6,800 | approximately 1 per 40,000 people of Ashkenazi Jewish descent have Niemann-Pick disease type A, Genetics Home Reference website |
| 419. Friedreich ataxia | 0.00% | 1 in 40,000 | 6,800 | estimated 1 per 40,000 people are affected by Friedreich ataxia, Genetics Home Reference website |
| 420. Bloom Syndrome | 0.00% | 1 in 48,000 | 5,666 | 1 per 48,000 people of Ashkenazi Jewish descent suffer from Bloom syndrome, Genetics Home Reference website |
| 421. Gaucher Disease | 0.00% | 1 in 50,000 | 5,440 | 1 per 50,000 - 100,000 people are affected by Gaucher disease, Genetics Home Reference website |
| 422. Alport Syndrome | 0.00% | 1 in 50,000 | 5,440 | 1 per 50,000 newborns suffer from Alport syndrome, Genetics Home Reference website |
| 423. Treacher-Collins Syndrome | 0.00% | 1 in 50,000 | 5,440 | estimated 1 per 50,000 people suffer from Treacher Collins syndrome, Genetics Home Reference website |
| 424. Acidemia, methylmalonic | 0.00% | 1 in 50,000 | 5,440 | estimated 1 per 50,000 - 100,000 suffer from Methylmalonic acidemia, Genetics Home Reference website |
| 425. 3-methylcrotonyl-CoA carboxylase deficiency | 0.00% | 1 in 50,000 | 5,440 | estimated 1 per 50,000 people suffer from 3-methylcrotonyl-CoA carboxylase deficiency, Genetics Home Reference website |
| 426. Severe combined immunodeficiency, X-linked | 0.00% | 1 in 50,000 | 5,440 | 1 per 50,000 - 100,000 births are affected by X-linked severe combined immunodeficiency, Genetics Home Reference website |
| 427. Hereditary neuropathy with liability to pressure palsies | 0.00% | 1 in 50,000 | 5,440 | 2-5 per 100,000 people suffer from hereditary neuropathy with liability to pressure palsies, Genetics Home Reference website |
| 428. Citrullinemia I | 0.00% | 1 in 57,000 | 4,771 | 1 per 57,000 people have citrullinemia I worldwide , Genetics Home Reference website |
| 429. Autoimmune uveitis | 0.00% | 1 in 58,658 | 4,637 | 4,637 people in the USA 1996 1 |
| 430. Biotinidase deficiency | 0.00% | 1 in 60,000 | 4,533 | about 1 per 60,000 newborns suffer from profound or partial biotinidase deficiency, Genetics Home Reference website |
| 431. Oxalosis, type I | 0.00% | 1 in 60,000 | 4,533 | estimated 1 per 60,000 - 120,000 births are affected by primary hyperoxaluria, type I, Genetics Home Reference website |
| 432. Ellis-van Creveld syndrome | 0.00% | 1 in 60,000 | 4,533 | 1 per 60,000 - 200,000 newborns are affected by Ellis-van Creveld syndrome worldwide, Genetics Home Reference website |
| 433. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | 0.00% | 1 in 62,000 | 4,387 | estimated 1 per 62,000 people suffer from long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency in Finland, Genetics Home Reference website |
| 434. Corneal Dystrophies | 0.00% | 1 in 64,761 | 4,200 | 4,200 people have reduced vision because of corneal dystrophies in the US (Research to Prevent Blindness, NISE, NSF) |
| 435. Ornithine transcarbamylase (OTC) Deficiency | 0.00% | 1 in 80,000 | 3,400 | estimated 1 per 80,000 people suffer fro ornithine transcarbamylase deficiency, Genetics Home Reference website |
| 436. Holocarboxylase synthetase deficiency | 0.00% | 1 in 87,000 | 3,126 | estimated 1 per 87,000 people are affected by holocarboxylase synthetase deficiency, Genetics Home Reference website |
| 437. Amyloidosis | 0.00% | 1 in 90,666 | 3,000 | less than 3,000 people in the US (Mayo Clinic) |
| 438. Addison's Disease | 0.00% | 1 in 100,000 | 2,720 | 1 in 100,000; 13,335 people in the USA 1996 1 |
| 439. Guillain-Barre Syndrome | 0.00% | 1 in 100,000 | 2,720 | about 1 in 100,000 (NWHIC) |
| 440. X-Linked Agammaglobulinemia | 0.00% | 1 in 100,000 | 2,720 | 1-in-100,000 |
| 441. Menkes Disease | 0.00% | 1 in 100,000 | 2,720 | estimated 1 per 100,000 people suffer Menkes syndrome, Genetics Home Reference website |
| 442. Hypokalemic periodic paralysis | 0.00% | 1 in 100,000 | 2,720 | 1 per 100,000 people suffer from hypokalemic periodic paralysis, Genetics Home Reference website |
| 443. Apert syndrome | 0.00% | 1 in 100,000 | 2,720 | 1 per 100,000 people suffer from Apert syndrome, Genetics Home Reference website |
| 444. Pfeiffer syndrome | 0.00% | 1 in 100,000 | 2,720 | 1 per 100,000 people suffer from Pfeiffer syndrome, Genetics Home Reference website |
| 445. Rubinstein-Taybi Syndrome | 0.00% | 1 in 100,000 | 2,720 | estimated 1 per 100,000 - 125,000 newborns suffer from Rubinstein-Taybi syndrome, Genetics Home Reference website |
| 446. Holt-Oram Syndrome | 0.00% | 1 in 100,000 | 2,720 | estimated 1 per 100,000 people suffer from Holt-Oram disease, Genetics Home Reference website |
| 447. Diastrophic dysplasia | 0.00% | 1 in 100,000 | 2,720 | estimated 1 per 100,000 newborns are affected by diastrophic dysplasia, Genetics Home Reference website |
| 448. Krabbe leukodystrophy | 0.00% | 1 in 100,000 | 2,720 | 1 per 100,000 people are affected by Krabbe disease in the US, Genetics Home Reference website |
| 449. Gaucher disease type 3 | 0.00% | 1 in 100,000 | 2,720 | less than 1 per 100,000 births are affected by Gaucher disease type 3, Genetics Home Reference website |
| 450. Emery-Dreifuss muscular dystrophy, X-linked | 0.00% | 1 in 100,000 | 2,720 | estimated 1 per 100,000 people suffer from X-linked Emery-Dreifuss muscular dystrophy, Genetics Home Reference website |
| 451. Citrullinemia II | 0.00% | 1 in 100,000 | 2,720 | 1 per 100,000 - 230,000 people have citrullinemia II in Japan , Genetics Home Reference website |
| 452. Paramyotonia congenita | 0.00% | 1 in 100,000 | 2,720 | less than 1 per 100,000 people are affected by paramyotonia congenital, Genetics Home Reference website |
| 453. Porphyria cutanea tarda, familial type | 0.00% | 1 in 100,000 | 2,720 | 1-2 per 100,000 people are affected by porphyria cutanea tarda, Genetics Home Reference website |
| 454. Osteogenesis imperfecta type IIII | 0.00% | 1 in 100,000 | 2,720 | 1-2 per 100,000 people are affected by osteogenesis imperfecta type IIII worldwide, Genetics Home Reference website |
| 455. Osteogenesis imperfecta type II | 0.00% | 1 in 100,000 | 2,720 | 1-2 per 100,000 people are affected by osteogenesis imperfecta type II worldwide, Genetics Home Reference website |
| 456. Klinefelter syndrome variant | 0.00% | 1 in 100,000 | 2,720 | 1 per 50,000 males are affected by Klinefelter syndrome variants, Genetics Home Reference website |
| 457. Propionic academia | 0.00% | 1 in 100,000 | 2,720 | estimated 1 per 100,000 live births suffer from propionic academia in the US, Genetics Home Reference website |
| 458. Niemann-Pick disease, type C2 | 0.00% | 1 in 150,000 | 1,813 | approximately 1 per 150,000 people have Niemann-Pick disease type C, Genetics Home Reference website |
| 459. Cri-du-chat syndrome | 0.00% | 1 in 200,000 | 1,360 | 1 per 200,000-500,000 newborns are affected by Cri-du-chat syndrome, Genetics Home Reference website |
| 460. Hyperkalemic periodic paralysis | 0.00% | 1 in 200,000 | 1,360 | 1 per 200,000 people are affected by hyperkalemic periodic paralysis, Genetics Home Reference website |
| 461. Homocystinuria | 0.00% | 1 in 200,000 | 1,360 | at least 1 per 200,000 - 335,000 people are affected by homocystinuria worldwide, Genetics Home Reference website |
| 462. Jervell and Lange-Nielsen Syndrome | 0.00% | 1 in 200,000 | 1,360 | at least 1 per 200,00 people suffer from Jervell and Lange-Nielsen syndrome in Denmark, Genetics Home Reference website |
| 463. Cowden's syndrome | 0.00% | 1 in 200,000 | 1,360 | estimated 1 per 200,000 people are affected by Cowden's syndrome, Genetic Home Reference website |
| 464. Autoimmune Hepatitis | 0.00% | 1 in 235,294 | 1,156 | 1,156 people in the USA 1996 1 |
| 465. Amyotrophic lateral sclerosis | 0.00% | 1 in 250,000 | 1,087 | 4-8 per 1000,000 people suffer from amyotrophic lateral sclerosis worldwide, Genetics Home Reference website |
| 466. Ehlers-Danlos syndrome | 0.00% | 1 in 250,000 | 1,087 | estimated 1 per 250,000 people suffer from the vascular type of Ehlers-Danlos syndrome, Genetics Home Reference website |
| 467. Peutz-Jeghers Syndrome | 0.00% | 1 in 250,000 | 1,087 | estimated 1 per 250,000 - 300,000 people suffer from Peutz-Jeghers syndrome, Genetics Home Reference website |
| 468. Oculocutaneous tyrosinemia | 0.00% | 1 in 250,000 | 1,087 | 1 per 250,000 people suffer from tyrosinemia type 2, Genetics Home Reference website |
| 469. Pyruvate carboxylase deficiency | 0.00% | 1 in 250,000 | 1,087 | estimated 1 per 250,000 births are affected by pyruvate carboxylase deficiency, Genetics Home Reference website |
| 470. Isovaleric academia | 0.00% | 1 in 250,000 | 1,087 | 1 per 250,000 births are affected by isovaleric academia in the US, Genetics Home Reference website |
| 471. Thalassemia | 0.00% | 1 in 272,000 | 1,000 | 1,000 people with Cooley's anemia (NHLBI) |
| 472. Secondary pulmonary hypertension | 0.00% | 1 in 272,000 | 1,000 | about 1,000 new cases of pulmonary arterial hypertension are diagnosed each year in the US, Genetics Home Reference website |
| 473. Arginase deficiency | 0.00% | 1 in 300,000 | 906 | estimated 1 per 300,000 - 1,000,000 people suffer from arginase deficiency, Genetics Home Reference website |
| 474. Lesch-Nyhan syndrome | 0.00% | 1 in 380,000 | 715 | 1 per 380,000 people are affected by Lesch-Nyhan syndrome worldwide, Genetics Home Reference website |
| 475. Incontinentia Pigmenti | 0.00% | 1 in 388,571 | 700 | 700 - 1,000 cases of incontinentia pigmenti have been reported, Genetics Home Reference website |
| 476. Barth Syndrome | 0.00% | 1 in 400,000 | 680 | 1 per 200,000 male infants suffer from 2-methylglutaconic aciduria type 2, Genetics Home Reference website |
| 477. Cryptococcosis | 0.00% | 1 in 500,000 | 544 | 0.2-0.9 cases per 100,000 in the general population (DBMD) |
| 478. SCID | 0.00% | 1 in 500,000 | 543 | approximately 1-per-500,000 (NIDCD); 1-per-million |
| 479. Cushing's syndrome | 0.00% | 1 in 500,000 | 543 | 2-5 per million (NIDCD); 10 per million; 10-15 per million |
| 480. Gaucher disease type 2 | 0.00% | 1 in 500,000 | 543 | less than 1 per 500,000 births are affected by Gaucher disease type 2, Genetics Home Reference website |
| 481. Lymphangioleiomyomatosis | 0.00% | 1 in 544,000 | 500 | Several hundred people in the USA (NHLBI) |
| 482. Carbamoyl-phosphate synthase 1 deficiency | 0.00% | 1 in 800,000 | 340 | estimated 1 per 800,000 newborns suffer from carbamoyl phosphate synthetase I deficiency in Japan, Genetics Home Reference website |
| 483. Familial hyperchylomicronemia | 0.00% | 1 in 1 million | 271 | 1 per 1 million suffer from familial lipoprotein lipase deficiency worldwide, Genetics Home Reference website |
| 484. Crouzonodermoskeletal syndrome | 0.00% | 1 in 1 million | 271 | 1 per 1 million people are affected by Crouzonodermoskeletal syndrome, Genetics Home Reference website |
| 485. Pantothenate kinase-associated neurodegeneration | 0.00% | 1 in 1 million | 271 | estimated 1-3 per 1 million people are affected by Hallervorden-Spatz disease worldwide, Genetics Home Reference website |
| 486. Homozygous Familial Hypercholesterolemia | 0.00% | 1 in 1 million | 271 | 1 per 1 million US people suffer from Homozygous familial hypercholesterolemia. |
| 487. Mucopolysaccharidosis type I Hurler-Scheie syndrome | 0.00% | 1 in 1.4 million | 200 | about 200 people ("Orphan Products: Hope for People With Rare Diseases", By Carol Rados, FDA Consumer magazine, November-December 2003 Issue) |
| 488. Myositis ossificans | 0.00% | 1 in 2 million | 135 | estimated 1 per 2 million people are affected by fibrodysplasia ossificans progressiva, Genetics Home Reference website |
| 489. Glucagonoma | 0.00% | 1 in 2.7 million | 100 | only 100 cases since 1974 (Ganda, 1997) |
| 490. POEMS | 0.00% | 1 in 2.7 million | 100 | about 100 known cases (Ganda [1997]) |
| 491. Chronic Granulomatous Disease | 0.00% | 1 in 4 million | 67 | 1-in-4 million to 5 million (NIAID) |
| 492. Beta ketothiolase deficiency | 0.00% | 1 in 5.4 million | 49 | 50 - 60 cases of beta-ketothiolase deficiency have been reported worldwide, Genetics Home Reference website |
| 493. Rheumatic conditions | 0.00% | 1 in 6.3 million | 43 | nearly 43 Americans have arthritis or a rheumatic disease (CDC); 40 million people in the United States (NIAMS) |
| 494. Carnitine-acylcarnitine translocase deficiency | 0.00% | 1 in 9.1 million | 29 | about 30 cases of carnitine-acylcarnitine translocase deficiency have been confirmed, Genetics Home Reference website |
| 495. Short QT syndrome | 0.00% | 1 in 9.1 million | 29 | less than 30 cases of short QT syndrome have been reported, Genetics Home Reference website |
| 496. X-linked sideroblastic anemia | 0.00% | 1 in 12 million | 22 | several hundred cases of X-linked sideroblastic anemia have been reported worldwide, Genetics Home Reference website |
| 497. Somatostatinoma | 0.00% | 1 in 13.6 million | 20 | 20 known cases in the literature (Ganda, 1997) |
| 498. Malonic aciduria | 0.00% | 1 in 13.6 million | 20 | less than 20 cases of malonic aciduria have been reported, Genetics Home Reference website |
| 499. 3-methylglutaconic aciduria, type 1 | 0.00% | 1 in 13.6 million | 20 | less than 20 cases of 2-methylglutaconic aciduria type 1 have been reported, Genetics Home Reference website |
| 500. Alstrom disease | 0.00% | 1 in 14.1 million | 19 | about 425 cases of Alstrom disease reported worldwide, Genetics Home Reference website |
| 501. Cadasil | 0.00% | 1 in 15 million | 18 | about 400 people have been diagnosed with CADASIL worldwide, Genetics Home Reference website |
| 502. Isobutyryl-coenzyme A dehydrogenase deficiency | 0.00% | 1 in 54.4 million | 5 | less than 5 cases of isobutyryl-coenzyme A dehydrogenase deficiency have been reported, Genetics Home Reference website |
| 503. HMG-CoA lyase deficiency | 0.00% | 1 in 60 million | 4 | less than 100 people have been diagnosed with HMG-CoA lyase deficiency worldwide, Genetics Home Reference website |
| 504. Andersen-Tawil syndrome | 0.00% | 1 in 60 million | 4 | 100 people have been reported with Andersen-Tawil syndrome worldwide, Genetics Home Reference |
| 505. Tangier disease | 0.00% | 1 in 120 million | 2 | about 50 cases of Tangier disease have been diagnosed worldwide, Genetics Home Reference website |
| 506. Carnitine palmitoyl transferase 1 deficiency | 0.00% | 1 in 120 million | 2 | less than 50 people suffer from Jervell and Lange-Nielsen syndrome worldwide, Genetics Home Reference website |
| 507. Ethylmalonic aciduria | 0.00% | 1 in 200 million | 1 | about 30 cases of ethylmalonic encephalopathy have been reported worldwide, Genetics Home Reference website |
| 508. Pseudotumor Cerebri | 0.00% | 1 in 272 million | 1 | about 1-2 people per 100,000 population have benign intracranial hypertension in the US (Association for Spina Bifida and Hydrocephalus) |
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