Existence Genetics | Genetic Testing Panels | Genetic Analysis Panels | DNA Test | Gene Tests | Genome Analysis | Predictive and Personalized Preventive Medicine

FITNESS & ATHLETIC PERFORMANCE

The most comprehensive fitness genetic testing available. This panel will empower you and your fitness trainer with valuable insights about your genetic predispositions, allowing you to maximize your athletic potential and achieve your fitness goals while also helping to prevent future disease.
COVERAGE:
- Athletic Predisposition (Power vs Endurance )
- Surmountable Exercise-induced Fatigue
- Insurmountable Exercise-induced Fatigue
- Exercise-induced Muscle Damage (Sickle Cell Trait)
- Arthritis Risk in the Wrist, Hips, and Knees
- Osteoporosis Risk (For Women Only)
- Male Pattern Baldness Risk (For Men Only)
- Preventable sudden death with exercise including
  - Long QT Syndrome
  - Hypertrophic Cardiomyopathy
  - Dilated Cardiomyopathy
  - Restrictive Cardiomyopathy
  - Brugada Syndrome
  - Arrhythmogenic Right Ventricular Dysplasia (ARVD)
  - Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
And Many More, including Reflex Analysis
PREVENTABLE SUDDEN DEATH PANEL

The most comprehensive assessment of your genetic risk for preventable sudden death. By analyzing over 50 different genes, this panel will assess your risk of preventable sudden death and provides you and your healthcare provider with clear solutions to avoiding sudden death if a risk is detected.
COVERAGE:
- Malignant Hyperthermia (sudden death during surgery)
- Severe Adverse Reactions to Medications
- Blood Clot Risk including
- Factor V Leiden
- Prothrombin 20210
- Protein C Deficiency
- Protein S Deficiency
- Antithrombin III Deficiency
- MTHFR Deficiency
- Sudden Cardiac Death including
And Many More, including Reflex Analysis
Wellness & Longevity Panel

Existence’s Full Genome Analysis This panel is a combination of many of Existence Genetics’ other panels and provides extremely comprehensive testing of hundreds of diseases and traits that are relevant to a person’s health and longevity.

Designed for use by internists, pediatricians, predictive medicine specialists, preventive medicine doctors, executive health centers, corporate health programs, and health & wellness clinics.

COVERAGE:
- Full analysis of medication reactions including medication effectiveness, adverse reactions risk, and optimal dosing
- Cancer risk and prevention (skin, breast, colon...)
COVERAGE CONTINUED:
- Heart disease risk and prevention including heart attacks and coronary artery disease (CAD)
- Blood clot risk including Factor V Leiden, Prothrombin 20210, MTHFR, Protein C, Protein S, and Antithrombin III
- Arthritis risk in the knees, hips, and wrists/hands
- Osteoporosis risk and prevention (Women)
- Male Pattern Baldness risk and prevention (Men)
- Noise-induced Hearing Loss risk and prevention
- Genetically tailored fitness & athletic performance
- Evaluation of vitamin and supplement requirements, including vitamins B, D, lycopene, and fish oil
- Infectious disease susceptibility including near immunity to HIV and sensitivity to West Nile Virus
- Preventable causes of sudden death including malignant hyperthermia and sudden cardiac death (Long QT Syndrome, Hypertrophic Cardiomyopathy, and more)
- Existence’s Rare Disease Screen, which assesses over 1,000 rare diseases, conditions, and traits
And Many More, including Existence’s patent-pending Reflex® Analysis
PRECONCEPTION SCREENING PANEL FOR COUPLES

Preconception genetic testing involves testing either one or both of the people who are thinking about or planning to have a child in the future in order to predict the future child’s risk of diseases and conditions.

The purpose is to enable you to protect the health and longevity of your future children before they are even conceived.
COVERAGE:
- Sudden Death Risk including Sudden Infant Death Syndrome (SIDS)
- Cancer Risk including Breast, Colon, Skin, and Prostate
- Heart Disease Risk including Early-onset Heart Disease
- Visual and Hearing Impairments including Deafness and Blindness
- Skeletal, Facial, and Limb Abnormalities
- Mental Retardation
- Comprehensive assessment of Diseases of the Neurological System, Muscular System, and Blood & Immune Systems
- Morbid Obesity
- Adverse Reaction Risk to a Wide-range of Medications
- Comprehensive Screen of Hundreds of Rare Diseases and Syndromes
- Pythia Approach Add-on Available
And Many More, including Reflex Analysis
Melanoma Prevention

The most comprehensive melanoma genetic risk assessment available.

This panel not only predicts your genetic risk of melanoma but also empowers you and your healthcare provider with a report focused on prevention so that you can outsmart your genes.
COVERAGE:
- Melanoma Risk (including common and rare genes)
- Multiple Sclerosis Risk with Low Vitamin D Levels
And Many More, including Reflex Analysis
MALE PATTERN BALDNESS PREVENTION PANEL

The most comprehensive male pattern baldness genetic risk assessment available. This panel allows you to predict your genetic risk of losing your hair and empowers you and your healthcare provider with a report focused on prevention, including a full analysis of the genes involved in fitness & athletic performance.

This panel is only for men as insufficient genetic studies exist that would enable us to predict risk of female hair loss.
COVERAGE:
- Male Pattern Baldness Risk
- Athletic Predisposition (Power vs Endurance)
- Surmountable Exercise-induced Fatigue
- Insurmountable Exercise-induced Fatigue
- Exercise-induced Muscle Damage (Sickle Cell Trait)
And Many More, including Reflex Analysis
Dermatology Panel

Covers a wide range of traits and diseases that affect the skin and hair Designed for use by dermatologists, plastic surgeons, and primary care physicians (internists)
COVERAGE:
ATHLETIC, FITNESS, & WEIGHT MANAGEMENT PANEL

Provides a way to refine both your fitness and nutrition regimens so that they are personalized to your genes. Designed for use by weight loss (bariatric) physicians, sports medicine physicians, fitness instructors, nutritionists, dieticians, and weight loss specialists.
COVERAGE:
- Genetically tailored fitness including athletic performance (predisposition to power-based or endurance-based sports)
- Exercise-induced fatigue (both surmountable and insurmountable)
- Exercise-induced muscle damage including sickle-cell trait
- Genetically tailored nutrition and weight loss
- Evaluation of vitamin and supplement requirements, including vitamins B, D, lycopene, and fish oil
- Skin cancer risk
- Many preventable causes of exercise-induced sudden death
- Coronary artery disease and heart attack risk
- Diabetes mellitus, type II
And Many More, including Reflex Analysis
Sperm Donor Panel

Designed for use by sperm banks or those considering donating or receiving sperm
COVERAGE:
- Hundreds of rare diseases including orphan diseases, metabolic diseases, and syndromes
- Serious Neurologic Diseases
- Skeletal & Limb Abnormalities
- Cancer
- Sudden Death including Heart Arrhythmias & Cardiomyopathies
- Pervasive Developmental Disorders including Autism
- Mental Retardation
- Psychiatric Illness
- Longevity
- Anticipated Height & Weight Ranges
And Many More, including Reflex Analysis
Egg Donor Panel

Designed for use by egg donation centers or those considering donating or receiving eggs
COVERAGE:
- Hundreds of rare diseases including orphan diseases, metabolic diseases, and syndromes
- Serious Neurologic Diseases
- Skeletal & Limb Abnormalities
- Cancer
- Sudden Death including Heart Arrhythmias & Cardiomyopathies
- Pervasive Developmental Disorders including Autism
- Mental Retardation
- Psychiatric Illness
- Longevity
- Anticipated Height & Weight Ranges
And Many More, including Reflex Analysis
Women's Health Panel

Covers a broad range of diseases and traits that are specifically applicable to women Designed for use by primary care physicians (internists), gynecologists, women's health specialists, and family medicine physicians
COVERAGE:
- Genetically Tailored Fitness & Nutrition
- Female Infertility
- Reproductive System Abnormalities
- Cancer including Breast, Ovarian, Colorectal, & Skin Cancer
- Heart Disease including Heart Attack
- Sudden Death including Heart Arrhythmias & Cardiomyopathies
- Blood Clotting Abnormalities
- Stroke
- Multiple Sclerosis
- Infectious Disease Susceptibility
- Obesity
- Migraines
- Osteoporosis
- Depression including the Winter Blues
- Effectiveness & Side Effects of a wide range of Medications
And Many More, including Reflex Analysis
Men's Health Panel

Covers a broad range of diseases and traits that are specifically applicable to men Designed for use by primary care physicians (internists), urologists, men's health specialists, and family medicine physicians
COVERAGE:
- Genetically Tailored Fitness & Nutrition
- Male-pattern Baldness
- Cancer including Skin, Colorectal, Prostate, & Testicular Cancer
- Heart Disease including Heart Attack
- Sudden Death including Heart Arrhythmias & Cardiomyopathies
- Stroke
- Blood Clotting Abnormalities
- Male Infertility
- Erectile Dysfunction Medication Effectiveness
- Obesity
- Depression including the Winter Blues
- Infectious Disease Susceptibility
- Effectiveness & Side Effects of a wide range of Medications
And Many More, including Reflex Analysis
Executive Panel

Covers a broad range of diseases and traits pertinent to the lifestyle of an executive Designed as an add-on to any executive health exam
COVERAGE:
- Personal Genetic Identifier
- Genetically Tailored Fitness & Nutrition
- Effectiveness & Side Effects of a wide range of Medications
- Heart Disease including Heart Attack
- Sudden Death including Heart Arrhythmias & Cardiomyopathies
- Cancer
- Stroke
- Blood Clotting Abnormalities
- Stomach Ulcers
- Caffeine Metabolism
- ADHD
- Infectious Disease Susceptibility including Stomach Flu & Traveler's Diarrhea
- Depression including the Winter Blues
- Personality Traits including Risk-Taking & Addiction Susceptibility
And Many More, including Reflex Analysis
Newborn's Panel

Covers a wide range of traits and diseases that affect newborns or diseases for which prevention can be started in newborns and toddlers

Designed for use by pediatricians and family medicine physicians
COVERAGE:
- Personal Genetic Identifier (Genetic sequence that exists only in this one individual & can be used for identification)
- Effect of Breast Feeding Upon Intelligence
- Sudden Death including Sudden Infant Death Syndrome (SIDS)
- Heart Disease including Cardiac Arrhythmias & Cardiomyopathies
- Cancer including Skin & Breast Cancer
- Multiple Sclerosis
- Lactose Intolerance
- Blood Clotting Abnormalities
- Full Rare Disease Screen
- Blood Group
- Effectiveness & Side Effects of a wide range of Medications
And Many More, including Reflex Analysis
Children's Panel

Covers a wide range of traits and diseases that affect children or diseases for which prevention can begin in children.

Designed for use by pediatricians and family medicine physicians
COVERAGE:
- Personal Genetic Identifier
- Genetically Tailored Fitness & Nutrition
- Lactose Intolerance
- Learning Issues including Dyslexia
- Pervasive Developmental Disorders including Autism
- Sudden Death including Cardiac Arrhythmias & Cardiomyopathies
- Asthma
- Cancer including Breast, Skin, and Colorectal Cancer
- Blood Clotting Abnormalities
- Obesity
- Diabetes Mellitus
- Short Stature & Effectiveness of Growth Hormone Treatment
- Food Taste Preferences
And Many More, including Reflex Analysis
Learning & Education Panel

Designed for use by adults or children who are or have had trouble in school, or who have hit developmental milestones later than expected
COVERAGE:
- Pervasive Developmental Disorder including Autism
- Dyslexia
- Reading Ability
- Language Development
- Mental Retardation
- Sleep Disorders including Narcolepsy & Insomnia
- Effect of Stimulants on Cognition
And Many More, including Reflex Analysis
Carrier Screening Panel

Screens for hundreds of rare diseases including orphan diseases, metabolic diseases, and syndromes.

Identifies people who are carriers of, or are affected by them.

Designed for people who are, or are considering, having a child
COVERAGE:
- Serious Neurologic Diseases
- Cardiac Arrhythmias & Sudden Death
- Mental Retardation
- Pervasive Developmental Disorders including Autism
- Predisposition to Common & Rare Forms of Cancer
- Skeletal & Limb Abnormalities
- Diseases of the Blood & Immune System including Immunodeficiencies
- Diseases of Muscles (Myopathies) including Muscular Dystrophy
- Deafness & Hearing Impairment
- Blindness & Visual Impairment
And Many More, including Reflex Analysis
Reproduction Panel

Designed for individuals considering having a child
COVERAGE:
- Rare Diseases
- Neural Tube Defects including Spina Bifida
- Serious Neurologic Diseases
- Cancer
- Sudden Death including Cardiac Arrhythmias & Cardiomyopathies
- Pervasive Developmental Disorders including Autism
- Psychiatric Illness
- Intellectual & Athletic Ability
- Longevity
And Many More, including Reflex Analysis
Pythia Approach Add-on to Any Panel

The Pythia Approach (also known as Offspring Projections through the Combined Analysis of Different Individuals or OP-CADI) determines which diseases and traits two people's yet-to-be-conceived offspring are likely to inherit.

By conducting combined genetic analysis of two potential parents, the Pythia Approach provides information on the potential diseases and traits that may affect their offspring. Pythia Approach analysis can be added to any panel, as long as both prospective parents are screened.
COVERAGE:
Pregnancy Panel

Covers a wide range of traits and diseases that affect pregnancies

Designed for use by obstetricians & fertility specialists
COVERAGE:
- Blood Clotting Abnormalities
- Gestational Diabetes
- Risk of Preterm Birth
- Risk of Premature Rupture of Membranes
- Hypertension during Pregnancy
- Wound Healing (for Cesarean Section)
- Mother-to-child HIV Transmission Risk
- Retention of Weight Post-Pregnancy
- Depression
& Many More, including Reflex Analysis
Pregnancy Panel (the developing fetus)

Covers a wide range of traits & diseases that may affect the fetus, newborn, or child Designed for use during pregnancy

Requires a fetal genetic sample
COVERAGE:
- Personal Genetic Identifier (Genetic sequence that exists only in this one individual & can be used for identification)
- Sudden Death including Sudden Infant Death Syndrome (SIDS)
- Effect of Breast Feeding Upon Intelligence
- Gender
- Paternity
- Heart Disease including Structural Heart Defects
- Visual & Hearing Impairment
- Mental Retardation
- Pervasive Developmental Disorder including Autism
- Infectious Disease Susceptibility
- Cancer including Breast Cancer & Cancer Syndromes
- Blood Clotting Abnormalities
- Rare Diseases
And Many More, including Reflex Analysis
Female Fertility Panel

Designed for use by women considering becoming or attempting to become pregnant
COVERAGE:
- Female Infertility
- Miscarriage
- Ovulatory Problems
- Risk of Preterm Birth
- Blood Clotting Abnormalities
- Fetal Viability
- Placental Abruption
- Polycystic Ovary Syndrome
- Neural Tube Defects including Spina Bifida
- Gestational Diabetes
- Hypertension during Pregnancy
- Primary and/or Secondary Sex Characteristics
- Hypogonadism
- Rare Diseases
And Many More, including Reflex Analysis
Male Fertility Panel

Designed for use by men considering having or attempting to have a child
COVERAGE:
- Male Infertility
- Erectile Dysfunction Medication Effectiveness
- Peripheral Vascular Disease
- Fetal Viability
- Primary and/or Secondary Sex Characteristics
- Hypogonadism
- Rare Diseases
- Diabetes Mellitus
And Many More, including Reflex Analysis
Miscarriage & Difficulty Conceiving Panel

Designed for use by women who have had trouble conceiving or have miscarried
COVERAGE:
- Female Infertility
- Fetal Viability
- Ovarian Abnormalities
- Polycystic Ovary Syndrome
- Primary and/or Secondary Sex Characteristics
- Hypogonadism
- Blood Clotting Abnormalities
- Rare Diseases
And Many More, including Reflex Analysis
Weight Loss & Nutrition

Covers a wide range of traits and diseases that affect weight and health Designed for health care providers and patients who want to lose weight and/or maintain a specific weight
COVERAGE:
- Obesity
- Effects of Special Diets on Weight including Genetically Tailored Nutrition
- Effects of Physical Exercise on Weight including Genetically Tailored Fitness
- Exercise Capacity including Exercise Intolerance
- Food Taste Preference
- Eating Disorders
And Many More, including Reflex Analysis
Cardiovascular Panel

Covers a wide range of traits and diseases related to the health of the heart and blood vessels Designed for use by cardiologists, primary care physicians (internists), and family medicine physicians
COVERAGE:
- High Cholesterol Levels
- Atherosclerosis
- Sudden Death
- Heart Attack
- Arrhythmias
- High Blood Pressure
- Diabetes Mellitus
- Obesity
- Blood Clotting Abnormalities
- Cardiomyopathies
- Rare Cardiovascular Diseases
- Effects of Specific Foods on Risk of Heart Disease
- Effectiveness & Side Effects of Medications used to Prevent and/or Treat Cardiovascular Disease
And Many More, including Reflex Analysis
Heart Attack Panel

Covers a wide range of traits and diseases that affect the heart and circulatory system Designed for use by cardiologists, primary care physicians (internists), and family medicine physicians
COVERAGE:
- Heart Attack
- Effectiveness & Side Effects of Medications used to Prevent and/or Treat Heart Attacks including Statins, Warfarin, Plavix, Aspirin, & Beta Blockers
- Sudden Death due to Heart Arrhythmia
- Stress Effects
- Effects of Specific Foods & Beverages on Heart Disease Risk
- Coronary Artery Disease
- CRP Level
- Depression
- Restenosis following Angioplasty
- Cognitive Decline following Bypass Surgery
And Many More, including Reflex Analysis
Heart Arrhythmia Panel

Covers a wide range of traits and diseases that either cause or are associated with arrhythmias of the heart

Designed for use by cardiologist, primary care physicians (internists), and pathologists/medical examiners
COVERAGE:
- Atrial Fibrillation
- Long QT Syndrome
- Drug-induced Torsade de Pointes
- Ventricular Fibrillation
- Ventricular Tachycardia
- Cardiomyopathies including Hypertrophic, Dilated, & Arrhythmogenic Right Ventricular Cardiomyopathy
- Wolff-Parkinson-White Syndrome
- Brugada Syndrome
- Heart Block
- Effectiveness & Side Effects of Medications used to Prevent and/or Treat Arrhythmias
- Structural Heart Defects
And Many More, including Reflex Analysis
Cancer Panel

Covers a wide range of traits and diseases that affect risk for cancer Designed for use by oncologists, primary care physicians (internists), and those with a family history of cancer
COVERAGE:
- Melanoma & Non-melanoma Skin Cancer
- Breast & Ovarian Cancer
- Prostate Cancer
- Colorectal & Gastrointestinal Cancer
- Lung Cancer
- Leukemia & Lymphoma Cancer
- Head & Neck Cancer
- Medication Metabolism
- DNA Damage Due to Radiation Therapy
- Chemotherapy-induced Leukemia
- Wound Healing following Surgery
And Many More, including Reflex Analysis
Breast & Ovarian

Covers a wide range of traits and diseases that affect risk for breast and ovarian cancer

Designed for use by gynecologists, oncologists, women's health physicians, primary care physicians (internists), and family medicine physicians
COVERAGE:
- Breast Cancer Risk
- Ovarian Cancer Risk
- Prognosis with Breast or Ovarian Cancer
- Effectiveness & Side Effects of Medications used to Prevent and/or Treat Breast & Ovarian Cancer including Tamoxifen
- DNA Damage Due to Radiation Therapy
- Chemotherapy-induced Leukemia
- Blood Clotting Abnormalities
- Wound Healing following Surgery
- Age of Onset of Breast Cancer
- Effects of Specific Foods & Beverages on Breast Cancer Risk including Alcohol, Tea, & Coffee
And More, including Reflex Analysis
Colorectal Cancer Panel

Covers a wide range of traits and diseases that affect risk for colorectal cancer

Designed for use by oncologists, gastroenterologists, primary care physicians (internists), and family medicine physicians
COVERAGE:
- Colorectal Cancer Risk
- Prognosis with Colorectal Cancer
- DNA Damage Due to Radiation Therapy
- Chemotherapy-induced Leukemia
- Blood Clotting Abnormalities
- Wound Healing following Surgery
- Colorectal Cancer Association with Tobacco Smoke
- Colorectal Cancer Association with Foods such as Processed Meats
- Effectiveness & Side Effects of Medications used to prevent and/or Treat Colorectal Cancer
And More, including Reflex Analysis
Skin Cancer Panel

Covers a wide range of traits and diseases that affect risk for skin cancer

Designed for use by dermatologists, plastic surgeons, oncologists, primary care physicians (internists), and family medicine physicians
COVERAGE:
- Melanoma
- Non-melanoma Skin Cancer
- Prognosis with Melanoma
- Sensitivity to UV Light
- Effectiveness of & Side Effects of Medications used to Treat Melanoma
- DNA Damage Due to Radiation Therapy
- Chemotherapy-induced Leukemia
- Blood Clotting Abnormalities
- Wound Healing Following Surgery
And More, including Reflex Analysis
Prostate Cancer Panel

Covers a wide range of traits and diseases that affect risk for prostate cancer

Designed for use by urologists, oncologists, and primary care physicians (internists)
COVERAGE:
- Prostate Cancer Risk
- Prognosis with Prostate Cancer
- Effectiveness & Side Effects of Medications used to Prevent and/or Treat Prostate Cancer
- Erectile Dysfunction due to Radiation Therapy
- DNA Damage Due to Radiation Therapy
- Chemotherapy-induced Leukemia
- Blood Clotting Abnormalities
- Wound Healing following Surgery
- Effects of Specific Foods and Supplements on Prostate Cancer Risk including Omega-3s
And More, including Reflex Analysis
Golden Panel (Geriatric's Panel)

Covers a broad range of diseases and traits pertinent to aging and maintaining physical and cognitive functioning

Designed for baby boomers and senior citizens
COVERAGE:
- Effectiveness & Side Effects of a wide range of Medications
- Osteoarthritis
- Osteoporosis
- Cancer
- Heart Disease including Heart Attack & Causes of Sudden Death
- Stroke
- Rheumatoid Arthritis
- Caffeine Metabolism
- Age-related Hearing Impairment
And Many More, including Reflex Analysis
Alzheimer's Disease Panel

COMING SOON.
COVERAGE:
Neurologic Disease of Unknown Cause Panel

Screens for numerous neurologic diseases

Designed to help neurologists and primary care physicians (internists) narrow down their differential diagnosis and determine appropriate treatment
COVERAGE:
- Dementia
- Seizures
- Epilepsy
- Stroke
- Headaches, including Migraine & Cluster Headaches
- Multiple Sclerosis
- Diseases of Muscles (Myopathies) including Muscular Dystrophy
- Neuropathies
- Ataxia
- Fibromyalgia
- Lou Gehrig's' Disease (ALS)
- Rare Neurologic Diseases
- Effectiveness & Side Effects of Medications used to Prevent and/or Treat Neurologic Disease
And Many More, including Reflex Analysis
Law Enforcement & Forensics Panel

Covers a wide range of traits and diseases that are useful for detecting and identifying individual suspects

Designed for use by pathologists, law enforcement personnel, and crime scene investigators in order to determine the source of a biological sample (blood, hair, etc.) found at the scene of a crime
COVERAGE:
- Personal Genetic Identifier
- Blood Group
- Physical Traits
- Ancestry/Lineage
- Anticipated Range of Person's Height & Weight
- Personality Traits including Risk Taking
- Psychiatric Illness
- Antisocial Behavior, Level of Aggression, & Likelihood of Weapons Use
And Many More, including Reflex Analysis
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:
New Existence Panel

Release Date: Early 2012
COVERAGE:

1. 17 Alpha-hydroxylase / 17,20-Lyase Deficiency, Combined Complete
2. 17 Beta-hydroxysteroid Dehydrogenase 3 Deficiency
3. 25-hydroxyvitamin D Deficiency
4. 2-methyl-3-hydroxybutyryl-CoA Dehydrogenase Deficiency
5. 3-methylcrotonyl-CoA Carboxylase 1 Deficiency, Biotin Responsive
6. 3-methylcrotonyl-CoA Carboxylase 2 Deficiency
7. 3-methylglutaconic Aciduria, Type III
8. Aarskog-Scott syndrome
9. Achromatopsia
10. Achromatopsia 3
11. Acquired Idiopathic Sideroblastic Anemia
12. Acromesomelic Dysplasia, Maroteaux Type
13. Actin Myopathy
14. Acute Hepatic Porphyria, Severe Infantile-onset
15. Acute Lymphoblastic Leukemia
16. Acute Myeloid Leukemia with Complex Karyotype
17. Adenine Phosphoribosyltransferase Deficiency
18. Adenosine Deaminase Deficiency, Partial
19. Adenosine Monophosphate Deaminase Deficiency
20. Adenylosuccinase Deficiency
21. Adiponectin Deficiency
22. Adrenal Hyperplasia
23. Adrenal Hyperplasia II, Deficiency of 3-Beta-hydroxysteroid Dehydrogenase, Type II
24. Adrenal Hypoplasia, Congenital
25. Adrenal Insufficiency, Congenital
26. Adrenoleukodystrophy, Neonatal
27. Agammaglobulinemia
28. Agammaglobulinemia and Isolated Growth Hormone Deficiency
29. Alagille Syndrome
30. Albinism, Ocular, Type I
31. Albinism, Oculocutaneous, Type I, Temperature Sensitive
32. Albinism, Oculocutaneous, Type IA
33. Albinism, Oculocutaneous, Type III
34. Alexander Disease
35. Alkaptonuria
36. Allan-Herndon-Dudley Syndrome
37. Alopecia Areata
38. Alopecia Universalis Congenita
39. Alpers Syndrome
40. Alpers-like Hepatocerebral Syndrome
41. Alpha-1-Antitrypsin Deficiency
42. Alpha-B Crystallinopathy with Cataract
43. Alport Syndrome
44. Alström Syndrome
45. Alzheimer's Disease, Early-onset (Familial)
46. Amish Infantile Epilepsy Syndrome
47. Amyloid Polyneuropathy, Andrade or Portuguese Type
48. Amyloidosis I
49. Amyloidosis I, Hereditary Neuropathic
50. Amyloidosis III
51. Amyloidosis, Familial, Finnish Type
52. Amyloidosis, Familial, Visceral
53. Amyloidosis, Reactive Amyloid Systemic
54. Amyloidotic Polyneuropathy, Cardiac or Denmark Type
55. Amyloidotic Polyneuropathy, German-American Type
56. Andermann Syndrome
57. Andersen Cardiodysrhythmic Periodic Paralysis
58. Anderson Disease
59. Androgen Insensitivity Syndrome
60. Androgen Insensitivity Syndrome, Infertility, Male
61. Androgen Insensitivity, Complete
62. Androgen Insensitivity, Partial
63. Angelman Syndrome
64. Aniridia
65. Antenatal Bartter Syndrome, Type 2
66. Antiplasmin Alpha 2 Deficiency
67. Antithrombin III Deficiency
68. Aortic Aneurysm, Familial Thoracic
69. Aortic Aneurysm, Familial Thoracic 4
70. Aortic Aneurysm, Familial Thoracic 5
71. Apert Syndrome
72. Apolipoprotein A2 Deficiency
73. Apolipoprotein B Deficiency
74. Apolipoprotein H Deficiency
75. APRT Deficiency
76. APRT Deficiency, Japanese Type
77. Aquaporin-1 Deficiency Colton-Null
78. Argininemia
79. Argininosuccinic Aciduria
80. Arterial Aneurysms, Familial
81. Arthrogryposis, Distal, Type 2A
82. Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome
83. Arylsulfatase A Pseudodeficiency
84. Ascending Spastic Paralysis, Infantile-onset
85. Leber Hereditary Optic Atrophy
86. Ataxia
87. Ataxia, Episodic / Myokymia
88. Ataxia and Retinitis Pigmentosa with Isolated Vitamin E Deficiency
89. Ataxia, Isolated Vitamin E Deficiency
90. Ataxia, Spinocerebellar
91. Ataxia, Spinocerebellar, 6
92. Ataxia Telangiectasia
93. Ataxia Telangiectasia without Immunodeficiency
94. Ataxia Telangiectasia-like Disease
95. Ataxia-ocular Apraxia 2
96. Atelosteogenesis, Type IB
97. Atelosteogenesis, Type II
98. Atrial Septal Defect
99. Atrial Septal Defect with Atrioventricular Conduction Defects
100. Atrichia with Papular Lesions
101. Atrioventricular Block, Idiopathic Second-Degree
102. Atrioventricular Septal Sefect
103. ATRX Syndrome
104. Auditory Neuropathy, Nonsyndromic
105. Auditory Neuropathy, Temperature-sensitive
106. Autoimmune and Autoinflammatory Diseases
107. Autoimmune Lymphoproliferative Syndrome, Type II
108. Autoimmune Lymphoproliferative Syndrome, Type IIA
109. Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy
110. Azoospermia, Obstructive
111. Bardet-Biedl Syndrome 1
112. Bardet-Biedl Syndrome 4
113. Bardet-Biedl Syndrome 10
114. Bardet-Biedl Syndrome 13
115. Bardet-Biedl Syndrome 14
116. Bare Lymphocyte Syndrome, Type I
117. Bart Syndrome
118. Barth syndrome
119. Bartter Syndrome
120. Bartter Syndrome, Antenatal, Type 1
121. Bartter Syndrome, Type 3
122. Beare-Stevenson Cutis Gyrata Syndrome
123. Benign Familial Hematuria
124. Benign Hereditary Chorea
125. Berardinelli-Seip lipodystrophy
126. Bernard-Soulier Syndrome, Type A
127. Bernard-Soulier Syndrome, Type C
128. Beta Thalassemia
129. Beta-hexosaminidase A, Pseudodeficiency of
130. Bethlem Myopathy
131. Bilateral Striatal Necrosis, Infantile
132. Bile Acid Synthesis Defect, Congenital, 4
133. Biliary Atresia, Extrahepatic
134. Biotinidase Deficiency
135. Biotinidase Deficiency, Partial
136. Blau Syndrome
137. Blepharophimosis, Ptosis, and Epicanthus Inversus, Type I
138. Blindness
139. Color Blindness, Deutan
140. Night Blindness, Congenital Stationary, Type 1
141. Night Blindness, Congenital Stationary, Type 1B
142. Night Blindness, Congenital Stationary, Type 2
143. Night Blindness, Congenital Stationary, Type 2, Severe
144. Night Blindness, Congenital Stationary, Type 2B
145. Blood Group Variant: Auberger Au(a)/Au(b)
146. Blood Group Variant: Bombay Phenotype
147. Blood Group Variant: Colton
148. Blood Group Variant: Diego
149. Blood Group Variant: Dombrock
150. Blood Group Variant: Dombrock-null
151. Blood Group Variant: Froese
152. Blood Group Variant: Kidd
153. Blood Group Variant: Lewis Antigen, absence of
154. Blood Group Variant: p Phenotype
155. Blood Group Variant: P(k) Antigen
156. Blood Group Variant: Ralph
157. Blood Group Variant: Swann
158. Blood Group Variant: Waldner
159. Blood Group Variant: Wright
160. Bloom Syndrome
161. Borjeson-Forssman-Lehmann Syndrome
162. Bothnia Retinal Dystrophy Retinitis Punctata Albescens
163. Brachydactyly, Type A1
164. Brachydactyly, Type A2
165. Brachydactyly, Type B1
166. Brachydactyly, Type C
167. Brachydactyly, Type E
168. Brachydactyly, Type D
169. Butyrylcholinesterase Deficiency
170. Butyrylcholinesterase Deficiency, Fluoride-resistant, Japanese Type
171. C (Opitz Trigonocephaly) Syndrome
172. Cabezas Syndrome
173. Caffey Disease
174. Camurati-Engelmann Disease
175. Canavan Disease
176. Capillary Malformation-Arteriovenous Malformation
177. Carbohydrate-deficient Glycoprotein Syndrome, Type II
178. Carbonic Anhydrase Deficiency
179. Cardiac Conduction Disease
180. Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome c Oxidase Deficiency
181. Cardiofaciocutaneous Syndrome
182. Cardiomyopathy, X-linked Infantile
183. Carney Complex
184. Carney Complex Variant
185. Carnitine Deficiency, Systemic Primary
186. Carnitine Palmitoyltransferase Deficiency, Hepatic, Type IA
187. Carnitine Palmitoyltransferase II Deficiency
188. Carnitine Palmitoyltransferase II Deficiency, Infantile
189. Carnitine Palmitoyltransferase II Deficiency, Late-onset
190. Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
191. Carnitine-acylcarnitine Translocase Deficiency
192. Cartilage-Hair Hypoplasia
193. Caspase-8 Deficiency
194. Cataract, Central Nuclear
195. Cataract, Congenital
196. Cataract, Coppock-like
197. Cataract, Marner Type
198. Cataract, Ocular Anterior Dysgenesis and Coloboma
199. Cataract, Primary Congenital
200. Cataract, Congenital Lamellar
201. Caudal Regression Syndrome
202. CD36 Deficiency
203. Central Core Disease
204. Central Hypoventilation Syndrome
205. Centronuclear Myopathy
206. Centronuclear Myopathy, Becker Muscular Dystrophy
207. Cerebellar Ataxia, Cataracts, and Diabetes Mellitus
208. Cerebellar Ataxia, Cayman Type
209. Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
210. Cerebral Cavernous Malformations
211. Cerebroarterial Amyloidosis, Icelandic-type
212. Cerebrooculofacioskeletal Syndrome 4
213. Cerebrotendinous Xanthomatosis
214. Cerulean Cataract, Congenital
215. Cervical Artery Dissections, Spontaneous
216. Chanarin-Dorfman Syndrome
217. Charcot-Marie-Tooth Disease, Type 1A
218. Charcot-Marie-Tooth Disease, Type 1B
219. Charcot-Marie-Tooth Disease, Type 1D
220. Charcot-Marie-Tooth Disease, Axonal, Type 2A1
221. Charcot-Marie-Tooth Disease, Axonal, Type 2A2
222. Charcot-Marie-Tooth Disease, Axonal, Type 2B1
223. Charcot-Marie-Tooth Disease, Axonal, Type 2D
224. Charcot-Marie-Tooth Disease, Axonal, Type 2E
225. Charcot-Marie-Tooth Disease, Axonal, Type 2K
226. Charcot-Marie-Tooth Disease, Type 2F
227. Charcot-Marie-Tooth Disease, Type 2J
228. Charcot-Marie-Tooth Disease, Type 4C
229. Charcot-Marie-Tooth Disease, Type 4F
230. Charcot-Marie-Tooth Disease, Type 4H
231. Charcot-Marie-Tooth Disease, Type 4J
232. Charcot-Marie-Tooth Disease, Type 5
233. Charcot-Marie-Tooth Disease, Type 6
234. CHARGE Syndrome
235. Chediak-Higashi Syndrome, Childhood Type
236. Cherubism
237. Cholesterol Ester Storage Disease
238. Cholinesterasaemia
239. Chondrocalcinosis 2
240. Chondrodysplasia Punctata
241. Choreoacanthocytosis
242. Choroideremia
243. Chronic Granulomatous Disease, Cytochrome b-Negative
244. Chronic Granulomatous Disease, Cytochrome b-Positive, Chronic
245. Chronic Granulomatous Disease, Cytochrome b-Positive, Type II
246. Chronic Insomnia
247. Chronic Obstructive Pulmonary Disease, Severe Early-onset
248. Chylomicron Retention Disease
249. Ciliary Dyskinesia, Primary
250. Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
251. Cleft Palate and Ankyloglossia
252. Cleidocranial Dysplasia
253. Coagulation Defect, Vitamin K-Dependent
254. Cohen Syndrome
255. Combined Deficiency of Vitamin K-dependent Clotting Factors, Type 2
256. Combined Oxidative Phosphorylation Deficiency
257. Combined SAP Deficiency
258. Complement C2 Deficiency, Type II
259. Complement C3 Deficiency
260. Complement C5 Deficiency
261. Complete Adenine Phosphoribosyltransferase Deficiency, Icelandic Type
262. Complex 1 Deficiency
263. Complex 3 Deficiency
264. Cone-rod Dystrophy
265. Cone-rod Dystrophy 3
266. Cone-rod Dystrophy 3
267. Cone-rod Dystrophy 6
268. Cone-rod Dystrophy 9
269. Congenital Adrenal Hyperplasia
270. Congenital Adrenal Hyperplasia due to Steroid-11 Beta-hydroxylase Deficiency
271. Congenital Adrenal Hyperplasia, Non-classic
272. Congenital Afibrinogenemia, Congenital Hypofibrinogenemia
273. Congenital Cataract
274. Congenital Central Hypoventilation Syndrome
275. Congenital Disorder of Glycosylation, Type Ia
276. Congenital Disorder of Glycosylation, Type Ib
277. Congenital Disorder of Glycosylation, Type Ic
278. Congenital Disorder of Glycosylation, Type Id
279. Congenital Disorder of Glycosylation, Type Ig
280. Congenital Disorder of Glycosylation, Type Ik
281. Congenital Disorder of Glycosylation, Type IIc
282. Congenital Erythropoietic Porphyria
283. Congenital Erythropoietic Porphyria, Mild, Cutaneous-only
284. Congenital Fast Channel Myasthenic Syndrome
285. Congenital Heart Defects
286. Congenital Heart Disease Heterotaxy
287. Congenital Insensitivity to Pain Syndrome
288. Congenital Lipoid Adrenal Hyperplasia
289. Congenital Merosin Deficient Muscular Dystrophy
290. Congenital Muscular Dystrophy, Type 1C, with Neurologic Abnormalities
291. Congenital Myasthenic Syndrome
292. Congenital Myasthenic Syndrome associated with Acetylcholine Receptor Deficiency
293. Congenital Nephrosis 1, Finnish Type
294. Congenital Sick Sinus Syndrome
295. Congenital Slow Channel Myasthenic Syndrome
296. Conjunctivitis, Ligneous
297. Connatal Pelizaeus-Merzbacher Disease
298. Contractural Arachnodactyly, Congenital
299. Coproporphyria
300. Corticosteroid-binding Globulin Deficiency
301. Costello Syndrome
302. Cowden Disease Bannayan-Riley-Ruvalcaba Syndrome
303. Cowden Disease Bannayan-Riley-Ruvalcaba Syndrome, Macrocephaly/Autism Syndrome
304. Craniofrontonasal Syndrome
305. Craniometaphyseal Dysplasia
306. Craniosynostosis Muenke Syndrome
307. Creutzfeldt-Jakob Syndrome
308. Crigler-Najjar Syndrome 1
309. Crigler-Najjar Syndrome 2
310. Crouzon syndrome
311. Crouzon Syndrome with Acanthosis Nigricans
312. Crouzonodermoskeletal Syndrome
313. Cutis Laxa
314. Cystathioninuria
315. Cystic Fibrosis
316. Cystic Fibrosis, Non-classic
317. Cystinuria
318. Cystinuria, Non-type I
319. Cytochrome c Oxidase Deficiency
320. Cytochrome P450 Deficiency
321. Danon Disease
322. Darier Disease
323. Deafness, Childhood-onset
324. Deafness, Aminoglycoside-induced
325. Deafness, Congenital Heart Defects, and Posterior Embryotoxon
326. Deafness, Congenital, Neurosensory
327. Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
328. Deafness, Neurosensory
329. Deafness, Neurosensory 21
330. Deafness, Neurosensory without Vestibular Involvement
331. Deafness, Nonsyndromic
332. Deafness, Nonsyndromic Sensorineural
333. Deafness, Autosomal Recessive 1
334. Deafness, Nonsyndromic Sensorineural 3
335. Deafness, Nonsyndromic Sensorineural 8
336. Deafness, Nonsyndromic Sensorineural 12
337. Deafness, Autosomal Dominant 12
338. Deafness, Nonsyndromic Sensorineural with Dentinogenesis Imperfecta, Type I
339. Deafness, Progressive
340. Deafness, Sensorineural, with Migraine
341. Deafness, Sensorineural, with Mild Renal Dysfunction
342. Decreased Androgen (DHEA) Secretion
343. Deficiency of 3-Beta-hydroxysteroid Dehydrogenase, Type II
344. Deficiency of Factor XIII, A Subunit
345. Dejerine-Sottas Neuropathy
346. Delayed Sleep Phase Syndrome
347. Demyelinating Charcot-Marie-Tooth Disease 4A Axonal Neuropathy with Vocal Cord Paresis, Axonal Charcot-Marie-Tooth Disease, Type 2K
348. Dent Disease
349. Dentinogenesis Imperfecta, Severe, with Very Mild Osteogenesis Imperfecta
350. Dentinogenesis Imperfecta, Type I
351. Dentinogenesis Imperfecta, Shields Type II
352. Dentinogenesis Imperfecta, Shields Type III
353. Denys-Drash Syndrome
354. Denys-Drash Syndrome Mesangial Sclerosis, Isolated Diffuse
355. Desmosterolosis
356. Diabetes Insipidus, Central
357. Diabetes Insipidus, Nephrogenic
358. Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
359. Diabetes Mellitus, Permanent Neonatal
360. Diarrhea, Malabsorptive, Congenital
361. Diastrophic Dysplasia
362. Dihydropteridine Reductase Deficiency
363. Dihydropyrimidine Dehydrogenase Deficiency
364. Dihydropyrimidine Dehydrogenase Deficiency, Possible 5-FU Toxicity
365. Dihydropyrimidine Dehydrogenase Deficiency, Partial
366. Dilatative Myopathy
367. Disordered Steroidogenesis
368. Distal Arthrogryposis Syndrome 1
369. Distal Arthrogryposis Syndrome 2b
370. Distal Renal Tubular Acidosis
371. Distal Renal Tubular Acidosis with Late-onset Sensorineural Hearing Loss
372. Distal Renal Tubular Acidosis with Progressive Deafness
373. Dopamine Beta Hydroxylase Deficiency
374. Drug-induced Hemolysis Haemoglobin Variant
375. Dubin-Johnson Syndrome
376. Dysalbuminemic Hyperthyroxinaemia, Familial
377. Dysautonomia, Familial
378. Dysfibrinogenaemia
379. Fibrinogen Amiens 1
380. Fibrinogen Amiens 2
381. Fibrinogen Bergamo 3
382. Fibrinogen Bern 2
383. Fibrinogen Bicetre 1
384. Fibrinogen Birmingham 1
385. Fibrinogen Chapel Hill 2
386. Fibrinogen Clermont-Ferrand 1
387. Fibrinogen Giessen 1
388. Fibrinogen Leitchfield
389. Fibrinogen Long Beach 1
390. Fibrinogen Louisville 1
391. Fibrinogen Manchester 1
392. Fibrinogen Paris 6
393. Fibrinogen Petoskey 1
394. Fibrinogen Seattle 2
395. Fibrinogen Sheffield 2
396. Fibrinogen Sydney 1
397. Fibrinogen Sydney 2
398. Fibrinogen White Marsh 1
399. Dysfibrinogenemia
400. Dysfibrinogenemia, Fibrinogen Bergamo 1
401. Dysfibrinogenemia Thrombophilia, Dysfibrinogenemic
402. Fibrinogen Hershey 2
403. Fibrinogen Homburg 2
404. Fibrinogen Homburg 3
405. Fibrinogen Kawaguchi 1
406. Fibrinogen Leogan
407. Fibrinogen Metz 1
408. Fibrinogen New Albany
409. Fibrinogen Osaka 1
410. Fibrinogen Schwarzach 1
411. Fibrinogen Stony Brook 1
412. Fibrinogen Zurich 1
413. Fibrinogen Torino 1
414. Fibrinogen Ledyard
415. Fibrinogen Hershey 3
416. Fibrinogen Milano XII, Digenic
417. Dyskeratosis Congenita
418. Dystonia 12
419. Dystonia, Adult-onset
420. Dystonia, Dopa-responsive
421. Dystonia, Torsion
422. Ehlers-Danlos Syndrome
423. Ehlers-Danlos Syndrome, Cardiac Valvular Form
424. Ehlers-Danlos Syndrome, Hypermobility Type
425. Ehlers-Danlos Syndrome, Progeroid Form
426. Ehlers-Danlos Syndrome, Spondylocheiro Dysplastic Form
427. Ehlers-Danlos Syndrome, Type I
428. Ehlers-Danlos Syndrome, Type II
429. Ehlers-Danlos Syndrome, Type IV
430. Ehlers-Danlos Syndrome, Type VI-A
431. Ehlers-Danlos Syndrome, Type VI-A, Nevo Syndrome
432. Ehlers-Danlos Syndrome, Type VII
433. Ehlers-Danlos Syndrome, Type VII-A
434. Ehlers-Danlos Syndrome, Type VII-B
435. Elliptocytosis
436. Elliptocytosis, Hemolytic Anemia, Neonatal Nonimmune, Fatal and Near-fatal
437. Elliptocytosis, Rhesus-Unlinked Type
438. Elliptocytosis, Rhesus-Unlinked Type, Pyropoikilocytosis, Hereditary
439. Encephalopathy, Ethylmalonic
440. Encephalopathy, Familial, with Neuroserpin Inclusion Bodies
441. Enhanced S-cone Syndrome
442. Enhanced S-cone Syndrome, Retinitis Pigmentosa
443. Epidermolysis Bullosa Dystrophica
444. Epidermolysis Bullosa Dystrophica, Localisata Variant
445. Epidermolysis Bullosa Simplex
446. Epidermolysis Bullosa Simplex, Ogna Type
447. Epidermolysis Bullosa with Pyloric Atresia
448. Epidermolysis Bullosa without Pyloric Atresia, Generalized Atrophic Benign
449. Epidermolysis Bullosa, Dowling-Meara
450. Epidermolysis Bullosa, Generalized Atrophic Benign
451. Epidermolysis Bullosa, Herlitz
452. Epidermolysis Bullosa, Junctional
453. Epidermolysis Bullosa, Junctional, Herlitz Type
454. Epidermolysis Bullosa, Junctional, with Pyloric Atresia
455. Epidermolysis Bullosa, Koebner
456. Epidermolysis Bullosa, Lethal Acantholytic
457. Epidermolysis Bullosa, Pretibial
458. Epidermolysis Bullosa, Weber-Cockayne
459. Epidermolytic Hyperkeratosis
460. Epidermolytic Palmoplantar Keratoderma associated with Knuckle Pads
461. Epilepsy, Benign Neonatal
462. Epilepsy, Childhood Absence
463. Epilepsy, Nocturnal Frontal Lobe
464. Epilepsy, Progressive Myoclonus
465. Epilepsy, Juvenile Absence
466. Epilepsy, Juvenile Myoclonic
467. Epilepsy, Severe Myoclonic, of Infancy (Dravet Syndrome)
468. Epilepsy, Myoclonic, of Lafora
469. Epilepsy, Myoclonic, with Mental Retardation and Spasticity
470. Epiphyseal Dysplasia
471. Epoxide Hydrolase Deficiency, Susceptibility to Lymphoproliferative Disorder
472. Epstein Syndrome
473. Erythermalgia, Primary
474. Erythrocyte Lactate Transporter Defect
475. Escobar Syndrome
476. Essential Fructosuria
477. Ethylmalonic Aciduria
478. Excessive Daytime Sleepiness
479. Exostoses, Multiple, Type II
480. Extrapyramidal Movement Disorder
481. Fabry Disease
482. Faciogenital Dysplasia with Attention Deficit Hyperactivity Disorder
483. Factor H Deficiency
484. Factor V and Factor VIII Deficiency, Combined
485. Factor V Deficiency
486. Factor VII Deficiency
487. Factor X Deficiency
488. Factor XI Deficiency
489. Factor XII Deficiency
490. Familial Advanced Sleep Phase Syndrome
491. Familial Cold Autoinflammatory Syndrome
492. Familial Dysautonomia
493. Familial Mediterranean Fever
494. Fanconi Anemia, Complementation Group A
495. Fanconi Anemia, Complementation Group C
496. Fanconi Anemia, Complementation Group D1
497. Fanconi Anemia, Complementation Group E
498. Fanconi Anemia, Complementation Group J
499. Fanconi Anemia, Complementation Group N
500. Farber Lipogranulomatosis
501. Fechtner Syndrome
502. Fibromatosis, Juvenile Hyaline
503. Fish-eye Disease
504. Focal Segmental Glomerulosclerosis
505. Foveomacular Dystrophy, Adult-onset, with Choroidal Neovascularization
506. Fragile X Mental Retardation Syndrome
507. Frasier Syndrome
508. Friedreich Ataxia
509. Friedreich-Like Ataxia with Isolated Vitamin E Deficiency
510. Frontotemporal Dementia
511. Frontotemporal Dementia, with Parkinsonism
512. Frontotemporal Lobar Dementia, Ubiquitin-Positive
513. Fuchs Endothelial Corneal Dystrophy, Polymorphous Posterior
514. Fucosidosis
515. Fucosyltransferase-6 Deficiency
516. Fumarylacetoacetase Pseudodeficiency
517. Galactosemia
518. Galactosialidosis, Adult, Japanese Type
519. Galactosialidosis, Late Infantile
520. Gangliosidosis GM1
521. Gangliosidosis GM1, Late Infantile/Juvenile Type
522. Gaucher Disease, Type I
523. Gaucher Disease, Type II
524. Gaucher Disease, Type II, Perinatal Lethal Form
525. Gaucher Disease, Type III
526. Gaucher Disease, Type IIIC
527. Gelatinous Drop-like Corneal Dystrophy
528. Generalized Epilepsy and Paroxysmal Dyskinesia
529. Generalized Idiopathic Epilepsy Episodic Ataxia, Type 5
530. Gerstmann-Straeussler Syndrome
531. Giant Axonal Neuropathy
532. Gilbert Syndrome
533. Gitelman Syndrome
534. Glanzmann Thrombasthenia
535. Glaucoma, Primary Congenital
536. Glaucoma 1, Open Angle, E
537. Glaucoma 1, Open Angle, E, Glaucoma, Normal Tension
538. Glaucoma 1A, Open Angle
539. Glaucoma 1A, Primary Open Angle
540. Glaucoma 1A, Primary Open Angle, Digenic
541. Glaucoma 3A, Primary Congenital, Digenic
542. Glucocorticoid Deficiency
543. Glucose-6-phosphate Dehydrogenase Deficiency
544. Glutamate Formiminotransferase Deficiency
545. Glycine N-methyltransferase Deficiency
546. Glycogen Storage Disease, Type 0
547. Glycogen Storage Disease, Type Ia
548. Glycogen Storage Disease, Type Ib
549. Glycogen Storage Disease, Type II
550. Glycogen Storage Disease, Type II, Adult Form
551. Glycogen Storage Disease, Type II, Infantile Form
552. Glycogen Storage Disease, Type IIIa
553. Glycogen Storage Disease, Type IV, Classic Hepatic
554. Glycogen Storage Disease, Type IV, Childhood Neuromuscular
555. Glycogen Storage Disease, Type IV, Nonprogressive Hepatic
556. Glycogen Storage Disease, Type VI
557. Glycogen Storage Disease, Type VII
558. GM1-Gangliosidosis, Adult/Chronic Type
559. GM2-Gangliosidosis, Adult
560. Goiter, Familial, with Hypothyroidism
561. Goiter, Nonendemic Simple
562. Gout, HPRT-related
563. GRACILE Syndrome
564. Greater Agonists Promoted Contractility
565. Greig Cephalopolysyndactyly Syndrome
566. Griscelli Syndrome, Type 2
567. Growth Hormone Deficiency
568. Growth Hormone Deficiency, Isolated
569. Growth Hormone Deficiency, Isolated, Type 2
570. Growth Retardation due to IGF1R
571. Gyrate Atrophy
572. Gyrate Atrophy with Pyridoxine-responsive Ornithinemia
573. Haemoglobin H Disease
574. Haemorrhagic Telangiectasia 1
575. Hailey-Hailey Disease
576. Haim-Munk Syndrome
577. Harderoporphyria
578. Harlequin Ichthyosis
579. HARP Syndrome
580. Hartnup Disorder
581. Hawkinsinsuria
582. Hearing Impairment, Nonsyndromic Sensorineural
583. Hemochromatosis
584. Hemochromatosis, Type 2A
585. Hemochromatosis, Type 3
586. Hemochromatosis, Type 4
587. Hemolytic Anemia
588. Hemolytic Anemia due to Adenylate Kinase Deficiency
589. Hemolytic Anemia due to Glutathione Synthetase Deficiency of Erythrocytes
590. Hemolytic Anemia due to Triosephosphate Isomerase Deficiency
591. Hemolytic Anemia, Rh-Null, Regulator Type
592. Hemolytic Uremic Syndrome
593. Hemophagocytic Lymphohistiocytosis, Familial
594. Hemophilia A
595. Hemophilia B
596. Hemophilia B, Leyden
597. Hemophilia B, Brandenburg
598. Hemorrhagic Diathesis due to Antithrombin Pittsburgh
599. Heparin Cofactor II Deficiency
600. Hepatic Lipase Deficiency
601. Hereditary Angioedema, Type II
602. Hereditary Haemorrhagic Telangiectasia, Type 2
603. Hereditary Hypophosphatemic Rickets with Hypercalciuria
604. Hereditary Myopathy with Early Respiratory Failure
605. Hereditary Nonpolyposis Colorectal Cancer, Type 1
606. Hereditary Nonpolyposis Colorectal Cancer, Type 2
607. Hereditary Nonpolyposis Colorectal Cancer, Type 5
608. Hereditary Nonpolyposis Colorectal Cancer, Type 7
609. Hereditary Nonployposis Colorectal Cancer, Type 9
610. Hereditary Nonployposis Colorectal Cancer, Type 10
611. Hereditary Persistence of Fetal Hemoglobin
612. Hermansky-Pudlak Syndrome
613. Heterotaxy
614. Hidrotic Ectodermal Dysplasia
615. High Myopia
616. Hirschsprung Disease
617. Hirschsprung Disease, Congenital Hypoventilation Syndrome
618. Hirschsprung Disease, Waardenburg-Shah Syndrome
619. HLA Class I Deficiency
620. HMG-CoA Lyase Deficiency
621. HMG-CoA Synthase Deficiency
622. Holocarboxylase Synthetase Deficiency
623. Holoprosencephaly 2
624. Holoprosencephaly 3
625. Holoprosencephaly 5
626. Holoprosencephaly 7
627. Holoprosencephaly 9
628. Homocystinuria
629. Hurler Syndrome
630. Hutchinson-Gilford Progeria Syndrome, Restrictive Dermatopathy, Lethal
631. Hydatidiform Mole, Recurrent
632. Hydrocephalus, X-linked
633. Hyperbilirubinemia, Transient Familial Neonatal
634. Hypercholanemia, Familial
635. Hypercholesterolemia, Familial
636. Hyperekplexia
637. Hyperglycerolemia
638. Hyperglycinemia, Non-ketotic Glycine Encephalopathy
639. Hypergonadotrophic Hypogonadism, Female
640. Hyperhomocysteinemia due to MTHFR Deficiency, Folate Responsive
641. Hyper-IgD Syndrome
642. Hyper-IgE Syndrome
643. Hyperinsulinism-hyperammonemia Syndrome
644. Hyperkalaemic Periodic Paralysis, Paramyotonia Congenita
645. Hyperlipidemia, Familial Combined
646. Hyperornithinemia-hyperammonemia-homocitrullinemia Syndrome
647. Hyperostosis-Hyperphosphatemia Syndrome
648. Hyperphenylalaninemia
649. Hyperphenylalaninemia, Non-PKU
650. Hyperproinsulinaemia, Familial
651. Hyperprolinemia, Type 1 Schizophrenia
652. Hypertriglyceridemia, Hereditary
653. Hypocalciuric Hypercalcaemia, Familial, Hypoparathyrodism, Familial Isolated
654. Hypocholesterolaemia
655. Hypocholinesterasaemia
656. Hypochondroplasia
657. Hypogammaglobulinemia
658. Hypoglycaemia, Persistent Hyperinsulinaemic
659. Hypoglycemia
660. Hypogonadotropic Hypogonadism
661. Hypogonadotropic Hypogonadism, Fertile Eunuch Syndrome
662. Hypokalaemic Periodic Paralysis
663. Hypomagnesaemia with Secondary Hypocalcaemia
664. Hypomagnesaemia, Primary
665. Hypomagnesaemia, Renal
666. Hypoparathyroidism, Familial Isolated
667. Hypoparathyroidism, Familial Isolated, Hypocalemia with Bartter Syndrome
668. Hypoparathyroidism-retardation-dysmorphism Syndrome
669. Hypophosphatasia, Infantile
670. Hypophosphatasia, Infantile, Mild
671. Hypophosphatemia
672. Hypophosphatemic Rickets
673. Hypoplastic Left Heart Syndrome, Atrioventricular Septal Defect
674. Hypothyroidism, Thyroid Hormonogenesis, Genetic Defect in
675. Hypothyroidism, Congenital, Nongoitrous
676. Hypotrichosis
677. Hypotrichosis Simplex
678. Hypotrichosis Simplex of Scalp
679. Hypoxanthine Guanine Phosphoribosyltransferase Deficiency
680. Hystrix-Like Ichthyosis with Deafness, Keratitis-ichthyosis-deafness Syndrome
681. Ichthyosis Vulgaris
682. Ichthyosis with Hypotrichosis
683. Ichthyosis, Harlequin
684. Ichthyosis, Lamellar
685. Idiopathic Infantile Nystagmus
686. Idiopathic Pulmonary Fibrosis
687. Idiopathic Restrictive Cardiomyopathy
688. Immunodeficiency with Hyper-IgM, Type 2
689. Immunodeficiency with Hyper-IgM, Type 3
690. Immunodeficiency with Hyper-IgM, Type 5
691. Immunologically Anomalous Variant
692. Inclusion Body Myopathy
693. Infantile Nephronophthisis
694. Intrahepatic Cholestasis of Pregnancy
695. Intrahepatic Cholestasis, Familial Progressive 2
696. Intrauterine and Postnatal Growth Retardation (Short Stature)
697. Iodide Transport Defect, Thyroid Hormonogenesis, Genetic Defect in
698. IPEX syndrome
699. Iris Flocculi
700. Isolated Lissencephaly Sequence
701. Isolated Partial Atrioventricular Septal Defect
702. Isovaleric Acidemia
703. ITPase Deficiency
704. Jervell and Lange-Nielsen Syndrome
705. JK-Null Variant, Finnish Type
706. Joubert Syndrome
707. Joubert Syndrome 2
708. Joubert Syndrome 3
709. Joubert Syndrome, Leber Congenital Amaurosis, Type X
710. Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
711. Kallmann Syndrome
712. Kallmann Syndrome 2
713. Kartagener Syndrome
714. Hemolytic Disease of the Newborn due to Anti-K
715. Keratitis-ichthyosis-deafness Syndrome
716. Keratoderma, palmoplantar
717. Keratoderma, Palmoplantar, with Deafness, Nonsyndromic Sensorineural
718. Knuckle pads, Leukonychia, Sensorineural Deafness
719. Kowarski Syndrome
720. Larsen Syndrome
721. Late Infantile Metachromatic Leukodystrophy
722. Lateral Temporal Lobe Epilepsy
723. Lead Poisoning, Increased Susceptibility to
724. Leber Congenital Amaurosis, Type I
725. Leber Congenital Amaurosis, Type III
726. Leber Congenital Amaurosis, Type VI
727. Leber Congenital Amaurosis, Type VII
728. Leber Congenital Amaurosis, Type X
729. Leber Hereditary Optic Neuropathy
730. Leber Hereditary Optic Neuropathy, Severe
731. Leber Optic Atrophy
732. Leigh Syndrome
733. Leigh Syndrome due to Mitochondrial Complex I Deficiency
734. Leigh Syndrome, French-Canadian Type
735. Leiomyomatosis and Renal Cell Cancer
736. Leprechaunism
737. Lesch-Nyhan Syndrome
738. Lethal Arthrogryposis with Anterior Horn Cell Disease
739. Lethal Congenital Contracture Syndrome
740. Lethal Contractural Syndrome, Type 3
741. Leukocyte Adhesion Deficiency
742. Leukoencephalopathy with Vanishing White Matter
743. Leukoencephalopathy with Vanishing White Matter, Ovarioleukodystrophy
744. Leydig Cell Hypoplasia with Male Pseudohermaphroditism
745. Liddle Syndrome
746. Li-Fraumeni Syndrome
747. Lipodystrophy with Diabetes
748. Lipodystrophy, Familial Partial, Type II (Dunnigan)
749. Lipoprotein Lipase Deficiency
750. Lissencephaly, Subcortical Laminar Heterotopia
751. Liver Glycogenosis, Type I
752. Liver Glycogenosis, Type II
753. Lujan-Fryns Syndrome
754. Lymphangioleiomyomatosis
755. Lymphoedema, Hereditary
756. Lymphoedema-distichiasis Syndrome
757. Macrocephaly/Autism Syndrome
758. Macular Degeneration, Juvenile
759. Macular Dystrophy
760. Macular Dystrophy, Best
761. Macular Dystrophy, Vitelliform
762. Majeed Syndrome
763. Mal de Meleda
764. Malignant Hyperthermia
765. Malonyl-CoA Decarboxylase Deficiency
766. Mannose-binding Protein Deficiency
767. Maple Syrup Urine Disease, Type IA
768. Maple Syrup Urine Disease, Type IB
769. Maple Syrup Urine Disease, Type II, Thiamine-response
770. Maple Syrup Urine Disease, Type III
771. Marfan Syndrome
772. Marfan Syndrome, Atypical
773. Marfan Syndrome, Neonatal
774. Marfan Syndrome, Severe Classic
775. Marfan Syndrome, Type II
776. Marfanoid Skeletal Syndrome
777. MASA syndrome
778. Mast Cell Leukemia
779. Mastocytosis, Sporadic, Childhood-onset
780. Maturity-onset Diabetes of the Young, Type III
781. Maximum Parasitemia, Mild Malaria Attack
782. May-Hegglin Anomaly
783. McArdle Disease
784. McCune-Albright Syndrome
785. McKusick-Kaufman Syndrome
786. Meckel Syndrome
787. Meckel Syndrome, Type 3
788. Mediterranean Macrothrombocytopenia
789. Medium Chain Acyl CoA Dehydrogenase Deficiency
790. Meesmann Corneal Dystrophy
791. Megablastic Anemia, Norwegian
792. Megalencephalic Leukoencephalopathy with Subcortical Cysts
793. Megaloblastic Anemia, Finnish Type
794. Megaloblastic Anemia, Thiamine-Responsive
795. MELAS Syndrome
796. Melnick-Needles syndrome
797. Membranoproliferative Glomerulonephritis, Type II and Dense Deposit Disease
798. Meningioma, Li-Fraumeni Syndrome
799. Menkes Disease, Mild
800. MERRF Syndrome
801. MERRF/MELAS Overlap Syndrome
802. Metachromatic Leukodystrophy, Atypical
803. Metachromatic Leukodystrophy, Adult
804. Metachromatic Leukodystrophy, Juvenile
805. Metaphyseal Dysplasia without Hypotrichosis
806. Methionine Synthase Reductase Deficiency
807. Methylmalonic Aciduria, cblB type
808. Methylmalonic Aciduria and Homocystinuria, cblC Type
809. Methylmalonic Aciduria, mut(0) Type
810. Mevalonic Aciduria
811. Microhaematuria and Protinuria
812. Microphthalmia with Associated Anomalies
813. Microphthalmia, Posterior, with Retinitis Pigmentosa, Foveoschisis and Optic Disc Drusen
814. Migraine, Familial Hemiplegic
815. Migraine, Familial Hemiplegic with Progressive Cerebellar Ataxia
816. Migraine, Sporadic Hemiplegic with Progressive Cerebellar Ataxia
817. Mitochondrial Complex 1 Deficiency
818. Mitochondrial Cytochrome c Oxidase Deficiency
819. Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form
820. Mitochondrial Myopathy and Sideroblastic Anemia
821. Mitochondrial Neurogastrointestinal Encephalopathy
822. Mitochondrial Neurogastrointestinal Encephalopathy without Leukoencephalopathy
823. Miyoshi Myopathy
824. ML / LEOPARD Syndrome
825. Monilethrix
826. Mucolipidosis, Type II
827. Mucolipidosis, Type II, Alpha/Beta
828. Mucolipidosis, Type III
829. Mucolipidosis, Type III, Alpha/Beta
830. Mucolipidosis, Type III, Gamma
831. Mucolipidosis, Type IIIC
832. Mucolipidosis, Type IV
833. Mucopolysaccharidosis, Type II, Severe Form
834. Mucopolysaccharidosis, Type IVA
835. Mucopolysaccharidosis, Type IVA, Mild
836. Mucopolysaccharidosis, Type VI
837. Multi-minicore Disease
838. Multiple Acyl-CoA Dehydrogenase Deficiency
839. Multiple Carboxylase Deficiency, Biotin-responsive
840. Multiple Cutaneous and Uterine Leiomyomata
841. Multiple Diastrophic Dysplasia
842. Multiple Endocrine Neoplasia, Type I
843. Multiple Endocrine Neoplasia, Type I, Burin Variant, Prolactinoma, Hyperparathyroid, Carcinoid Syndrome
844. Multiple Endocrine Neoplasia, Type IIA, Pheochromocytoma
845. Multiple Endocrine Neoplasia, Type IV
846. Multiple Epiphyseal Dysplasia
847. Muscle Weakness, Atrial Fibrilation, Hypertriglyceridaemia
848. Muscle-eye-brain Disease
849. Muscle-eye-brain Like Disease
850. Muscular Dystrophy, Becker
851. Muscular Dystrophy, Duchenne
852. Muscular Dystrophy, Emery-Dreifuss
853. Muscular Dystrophy, Limb Girdle, Type 1A, Myotilinopathy
854. Muscular Dystrophy, Limb Girdle, Type 1B
855. Muscular Dystrophy, Limb Girdle, Type 1C
856. Muscular Dystrophy, Limb Girdle, Type 2B
857. Muscular Dystrophy, Limb Girdle, Type 2D
858. Muscular Dystrophy, Limb Girdle, Type 2E
859. Muscular Dystrophy, Limb Girdle, Type 2I
860. Muscular Dystrophy, Limb Girdle, Type 2K
861. Muscular Dystrophy, Merosin Deficient
862. Myasthenic Syndrome
863. Myeloperoxidase Deficiency
864. Myoclonus-Dystonia Syndrome
865. Myofibrillar Myopathy, ZASP related
866. Myopathy
867. Myopathy due to Muscle Phosphoglycerate Mutase Deficiency
868. Myopathy, Desmin related
869. Myopathy, Distal, with Rimmed Vacuoles
870. Myopathy, Early-onset and Progeria
871. Myopathy, Mitochondrial, Late-onset
872. Myopathy, Mitochondrial, with Diabetes Mellitus
873. Myopathy, Variable, Inducable with Anesthesia
874. Myotilinopathy
875. Myotonia Fluctuans
876. Myotonic Dystrophy, Type 1
877. Nail-Patella Syndrome
878. Naxos Disease
879. Nemaline Myopathy
880. Neonatal Adrenoleukodystrophy
881. Neonatal Alloimmune Thrombocytopenic Purpura, Posttransfusion Purpura
882. Neonatal Death, Leigh Syndrome
883. Nephrolithiasis, Hypercalciuric
884. Nephronophthisis
885. Nephronophthisis 1
886. Nephronophthisis, Familial Juvenile
887. Nephrotic Syndrome, Steroid Resistant
888. Netherton Syndrome
889. Neural Tube Defects
890. Neuroblastoma
891. Neurofibromatosis, Type I
892. Neurofibromatosis 1-like Phenotype
893. Neurofibromatosis, Type II
894. Neuronal Ceroid Lipofuscinosis
895. Neuronal Ceroid Lipofuscinosis, Late Infantile
896. Neuropathy, Axonal, with Vocal Cord Paresis
897. Neuropathy, Axonal, Distal Hereditary Motor, Type IIB
898. Neuropathy, Distal Hereditary Motor, Type V
899. Neuropathy, Hereditary Sensory, Type I
900. Neuropathy, Hereditary Sensory, Type II
901. Neuropathy, Hereditary Sensory and Autonomic, Type V, Loss of Pain & Temperature Perception
902. Neuropathy with Liability to Pressure Palsies
903. Neutropenia, Congenital
904. Neutropenia, Cyclic
905. Neutropenia, Nonimmune Chronic Idiopathic, of Adults
906. Neutropenia, Severe Congenital
907. Nevus, Epidermal, Epidermolytic Hyerkeratotic Type
908. Niemann-Pick Disease, Type A
909. Niemann-Pick Disease, Type B
910. Niemann-Pick Disease, Type C1
911. Niemann-Pick Disease, Type C2
912. Niemann-Pick Disease, Variant Type C1
913. Nijmegen Breakage Syndrome
914. Nocturnal Frontal Lobe Epilepsy, Type 4, with Nocturnal Wandering and Ictal Fear
915. Noncompaction, Left Ventricular, associated with Congenital Heart Defects
916. Noncompaction, Left Ventricular, Isolated
917. Noncompaction, Left Ventricular Myocardium, Familial Isolated
918. Non-heterotaxy Cardiac Malformation
919. Nonsyndromic Hearing Impairment
920. Noonan Syndrome
921. Noonan Syndrome 3
922. Noonan Syndrome, LEOPARD Syndrome
923. Normal Tension Glaucoma
924. Norrie Disease
925. Nucleoside Phosphorylase Deficiency
926. Obesity, Hyperphagia, and Developmental Delay
927. Obesity, Severe
928. Obesity, Morbid, with Hypogonadism
929. Occlusive Cerebrovascular Disease
930. Oculofaciocardiodental Syndrome
931. Odontoonychodermal Dysplasia
932. Omenn Syndrome
933. Ophthalmoplegia, Progressive External with Hypogonadism
934. Opitz-Kaveggia Syndrome
935. Optic Atrophy 1
936. Optic Atrophy 1 with Deafness
937. Optic Atrophy, Deafness, Opthalmoplegia, and Myopathy
938. Optic Atrophy and Cataract
939. Ornithine Transcarbamylase Deficiency
940. Osteogenesis Imperfecta, Type I
941. Osteogenesis Imperfecta, Type II
942. Osteogenesis Imperfecta, Type III
943. Osteogenesis Imperfecta, Type IV
944. Osteogenesis Imperfecta/Ehlers-Danlos Crossover Syndrome
945. Osteopetrosis
946. Osteopetrosis, Type 2
947. Osteoporosis-pseudoglioma Syndrome
948. Otopalatodigital Syndrome 2
949. Pachyonychia Congenita, Type 1
950. Pachyonychia Congenita, Type 2
951. Palmoplantar Keratoderma, Epidermolytic
952. Pancreatitis, Chronic
953. Pantothenate Kinase-associated Neurodegeneration, Atypical Pantothenate Kinase-associated Neurodegeneration
954. PAPA syndrome
955. Papillon-Lefevre Syndrome
956. Paragangliomas, Phaeochromocytoma
957. Paramyotonia congenital
958. Parkinson Disease
959. Parkinson Disease, Early-onset
960. Parkinsonism, Juvenile, Autosomal Recessive
961. Paroxysmal Extreme Pain Disorder
962. Partial Atrioventricular Septal Defect and Heterotaxy Syndrome
963. Peeling Skin Syndrome
964. Pelizaeus-Merzbacher Disease, Mild
965. Pendred Syndrome
966. Periodic Fever, Autosomal Dominant
967. Periodontitis, Juvenile
968. Periventricular Heterotopia with Microcephaly
969. Peroxisome Biogenesis Disorder
970. Peroxisome Biogenesis Disorder, Complementation Group 3
971. Peroxisome Biogenesis Disorder, Complementation Group 8
972. Peroxisome Biogenesis Disorder, Complementation Group 9
973. Persistence of Fetal Hemoglobin
974. Peters' Anomaly
975. Peutz-Jeghers Syndrome
976. Pfeiffer Syndrome, Jackson-Weiss Syndrome
977. Pfeiffer Syndrome, Type III
978. Phenylketonuria
979. Pheochromocytoma
980. Phosphoserine Phosphatase Deficiency
981. Piebaldism with Sensorineural Deafness
982. Pigmentary Retinopathy and Sensorineural Deafness
983. Pigmented Nodular Adrenocortical Disease, Primary
984. Pigmented Paravenous Chorioretinal Atrophy
985. Pitt-Hopkins Syndrome
986. Placental Aromatase deficiency
987. Platelet Glycoprotein IV Deficiency
988. Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
989. Polycythemia Vera
990. Polycythemia, Chuvash Type
991. Polymicrogyria, Bilateral Frontoparietal
992. POR Deficiency
993. Porphyria Cutanea Tarda
994. Porphyria, Acute Hepatic, Delta-aminolevulinate Dehydratase Porphyria
995. Porphyria, Acute Intermittent
996. Porphyria, Acute Intermittent, Nonerythroid Variant
997. Porphyria, Hepatoerythropoietic
998. Porphyria, Variegate
999. Postanesthetic Apnea
1000. Posterior Polymorphons Corneal Dystrophy 1
1001. Prealbumin Chicago, Euthyroid Dystransthyretinemic Hyperthyroxinemia
1002. Precocious Puberty, Male-Limited
1003. Premature Ovarian Failure
1004. Primary Congenital Glaucoma
1005. Primary Spontaneous Pneumothorax
1006. Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions
1007. Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Type 2
1008. Progressive Familial Intrahepatic Cholestasis, Benign Recurrent Intrahepatic Cholestasis
1009. Progressive Supranuclear Palsy
1010. Progressive Supranuclear Palsy, Parkinson Disease
1011. Prolonged Bleeding Time due to Plasminogen Activator Inhibitor 1 Deficiency
1012. Properdin Deficiency, Type I
1013. Properdin Deficiency, Type II
1014. Propionic Acidemia
1015. Protoporphyria, Erythropoietic
1016. Pseudoachondroplasia
1017. Pseudohermaphroditism, Leydig Cell Hypoplasia
1018. Pseudohermaphroditism, Male
1019. Pseudohypoaldosteronism, Type 1
1020. Pseudohypoparathyroidism 1a, with Testotoxicosis
1021. Pseudorheumatoid Dysplasia, Progressive
1022. Pseudovaginal Perineoscrotal Hypospadias
1023. Pseudoxanthoma Elasticum
1024. Pulmonary Arterial Hypertension, Primary, Dexfenfluramine-associated
1025. Pulmonary Hypertension, Primary
1026. Pulmonary Surfactant Metabolism Dysfunction, Type 2, Respiratory Insufficiency, Infantile-onset Progressive
1027. Pulmonary Toxicity when Exposed to Thioureas
1028. Pycnodysostosis
1029. Pyridoxine Responsive Homocystinuria
1030. Pyruvate Carboxylase Deficiency
1031. Pyruvate Dehydrogenase E1-alpha Deficiency
1032. Pyruvate Dehydrogenase E1-beta Deficiency
1033. Pyruvate Kinase Deficiency
1034. Pyruvate Kinase Deficiency, Amish Type
1035. RAPADILINO Syndrome
1036. Refsum Disease
1037. Refsum Disease, Infantile Form
1038. Reifenstein Syndrome
1039. Renal Glucosuria
1040. Renal Tubular Dysgenesis
1041. Restrictive Cardiomyopathy
1042. Retinal Degeneration in Ciliopathies
1043. Retinal Degeneration with Early Macular Involvement
1044. Retinitis Pigmentosa
1045. Retinitis Pigmentosa 1
1046. Retinitis Pigmentosa 2
1047. Retinitis Pigmentosa 4
1048. Retinitis Pigmentosa 19
1049. Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy
1050. Retinitis Pigmentosa without Hearing Loss
1051. Retinitis Pigmentosa, Digenic
1052. Retinitis Pigmentosa, Late-onset
1053. Retinitis Punctata Albescens
1054. Retinitis Punctata Albescens, Newfoundland Rod-cone Dystrophy
1055. Retinoblastoma
1056. Retinoblastoma, Incomplete Penetrance Type
1057. Rheumatoid Arthritis, Juvenile, Systemic Onset
1058. Rhizomelic Chondrodysplasia Punctata, Type 2
1059. Rhizomelic Chondrodysplasia Punctata, Type 3
1060. Rickets, Vitamin D-dependent, Type I
1061. Rickets, Vitamin D-dependent, Type II
1062. Rickets, Vitamin D-resistant, Type I
1063. Ring Dermoid of the Cornea
1064. Rippling Muscle Disease 2
1065. Robinow Syndrome
1066. Rod Monochromacy
1067. Romano-Ward Syndrome
1068. Rothmund-Thomson Syndrome
1069. Roussy-Levy Syndrome
1070. Rubinstein-Taybi Syndrome
1071. Saddan Dysplasia
1072. Salt-Wasting Congenital Adrenal Hyperplasia
1073. Sandhoff Disease, Infantile Type
1074. Scheie Syndrome
1075. Schnyder Crystalline Corneal Dystrophy
1076. Schwannomatosis
1077. Scott Syndrome
1078. Seckel Syndrome
1079. Segawa Syndrome
1080. Senile Amyloidosis Inclusion Body Myositis
1081. Senior-Loken Syndrome
1082. Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis
1083. Severe Combined Immunodeficiency (SCID), Athabascan-Type
1084. Severe Combined Immunodeficiency (SCID), B Cell-negative
1085. Severe Combined Immunodeficiency (SCID), B Cell-negative, T Cell-negative, NK Cell-negative
1086. Severe Combined Immunodeficiency (SCID), B Cell-positive T Cell-negative, NK Cell-positive
1087. Severe Metachromatic Leukodystrophy
1088. Shah-Waardenburg Syndrome
1089. Short Chain Acyl-CoA-dehydrogenase Deficiency
1090. Shwachman-Diamond Syndrome
1091. Sialidosis, Type II
1092. Sialuria
1093. Sickle Cell Disease (Sickle Cell Anemia)
1094. Sickle Cell Trait
1095. Sideroblastic Anemia and Spinocerebellar Ataxia
1096. Sideroblastic Anemia, Hereditary
1097. Simple Virilizing Congenital Adrenal Hyperplasia
1098. Simpson-Golabi-Behmel Syndrome
1099. Sinus Bradycardia Syndrome, Familial
1100. Sinus Node Disease
1101. Sitosterolemia
1102. Sjogren-Larsson Syndrome
1103. Skeleton-Skin-Brain Syndrome
1104. Skin Fragility-Woolly Hair Syndrome
1105. Small Patella Syndrome
1106. Smith-Lemli-Opitz Syndrome
1107. Spastic Paralysis, Infantile-onset
1108. Spastic Paraplegia
1109. Spastic Paraplegia 3
1110. Spastic Paraplegia 10
1111. Spastic Paraplegia, Autosomal Dominant
1112. Spherocytosis, Hereditary
1113. Spherocytosis, Hereditary, due to Protein 4.2-Notame
1114. Spherocytosis, Hereditary, Japanese Type
1115. Spinal Muscular Atrophy, Distal, Childhood-onset
1116. Spinal Muscular Atrophy, Type I
1117. Spondyloepiphyseal Dysplasia Tarda
1118. Spondyloepiphyseal Dysplasia Tarda and Arthropathy
1119. Spondyloepiphyseal Dysplasia, Omani Type
1120. Spongiform Encephalopathy with Neuropsychiatric Features
1121. Stargardt Disease
1122. Stargardt Disease, Cone-rod Dystrophy 3
1123. Stargardt Disease, Mild
1124. Steroid-5 Alpha-reductase Deficiency
1125. Stiff Skin Syndrome
1126. Subcortical Laminar Heterotopia/Pachygyria
1127. Superoxide Dismutase, Elevated Extracellular
1128. Supravalvular Aortic Stenosis
1129. Symphalangism
1130. Symphalangism, Proximal
1131. Symphalangism, Type 1
1132. Synpolydactyly 1
1133. Tangier Disease
1134. Tarsal-Carpal Coalition Syndrome
1135. Tay-Sachs Disease
1136. Tay-Sachs Disease, AB Variant
1137. Tay-Sachs Disease, B1 Variant
1138. Thalassemia Beta
1139. Thalassemia Beta-Plus
1140. Thalassemia Delta
1141. Thanatophoric Dysplasia, Type I
1142. Thanatophoric Dysplasia, Type II
1143. Thin Basement Membrane Disease
1144. Thoracic Aortic Aneurysm and Dissection
1145. Thrombocythemia, Essential
1146. Thrombocytopenia
1147. Thrombocytopenia 1
1148. Thrombocytopenia with associated Acute Myeloid Leukemia
1149. Thrombocytosis
1150. Thrombophilia due to Heparin Cofactor II Deficiency
1151. Thrombophilia due to Plasminogen Deficiency
1152. Thrombotic Thrombocytopenic Purpura, Congenital
1153. Thyroid Hormone Resistance, Generalized
1154. Thyroxine-binding Globulin Deficiency, Partial
1155. Thyroxine-binding Globulin Deficiency, Slow
1156. Tibial Muscular Dystrophy, Tardive
1157. Timothy Syndome
1158. Tolbutamide Poor Metabolizer
1159. Total Iodide Organification Defect
1160. Tourette Syndrome
1161. Tourette Syndrome Facial Tic
1162. TPMT Deficiency
1163. Transcobalamin II Deficiency
1164. Transient Bullous Dermolysis of the Newborn
1165. Transposition of the Great Arteries, Dextro-looped
1166. Treacher-Collins Syndrome
1167. Trichorhinophalangeal Syndrome, Type I
1168. Trichothiodystrophy Xeroderma Pigmentosum, Group D
1169. Trichotillomania
1170. Trigonocephaly Antley-Bixler Syndrome
1171. Trimethylaminuria
1172. Troyer Syndrome
1173. Tuberculoid Leprosy versus Lepromatous Leprosy
1174. Tuberous Sclerosis
1175. Tumoral Calcinosis, Hyperphasphatemic
1176. Tyrosinemia, Type I
1177. Tyrosinemia, Type II
1178. Tyrosinemia, Type III
1179. Unna-Thost Disease
1180. Urea Transport Defect JK-Null Variant
1181. Usher Syndrome, Type 1B
1182. Usher Syndrome, Type 1C
1183. Usher Syndrome, Type 1D
1184. Usher Syndrome, Type 1F
1185. Usher Syndrome, Type 1G
1186. Usher Syndrome, Type 2A
1187. Usher Syndrome, Type 2C
1188. Usher Syndrome, Type 3
1189. UV-sensitive Syndrome
1190. Vohwinkel Syndrome
1191. Von Hippel-Lindau syndrome
1192. Von Willebrand Disease, Type I
1193. Von Willebrand Disease, Type IIB
1194. Von Willebrand Disease, Type IIM
1195. Von Willebrand Disease, Type III
1196. Waardenburg Syndrome, Type IIA
1197. Waardenburg Syndrome, Type III
1198. Waardenburg Syndrome, Type IVA
1199. Walker-Warburg Syndrome
1200. Werner Syndrome
1201. Werner Syndrome, Atypical
1202. WHIM Syndrome
1203. Wilson Disease
1204. Wiskott-Aldrich Syndrome
1205. Wiskott-Aldrich Syndrome, Attenuated
1206. Wolff-Parkinson-White Syndrome, Hereditary
1207. Wolman Disease
1208. Xanthinuria, Type I
1209. Xeroderma Pigmentosum, Complementation Group C
1210. Xeroderma Pigmentosum, Complementation Group D
1211. Xeroderma Pigmentosum, Complementation Group E
1212. Xeroderma Pigmentosum, Complementation Group G
1213. XRCC3 Deficiency
1214. XY Sex Reversal with Adrenal Insufficiency
1215. XY Sex Reversal without Adrenal Insufficiency
1216. Zellweger Syndrome
1217. Zellweger Syndrome, Complementation Group G