Database statistics by Orphan/Rare Disease
Number of Indications: 638 Number of total Biomarkers: 34586
 
Indications(Orphan/Rare Disease) Therapeutic Area Number of Biomarkers Number of Total References
Ovarian Cancer Oncology 16595190
Pancreatic Cancer Oncology 14354453
Kidney (Renal Cell) Cancer Oncology 10713530
Glioblastoma Multiforme Oncology 10482606
Esophageal Cancer Oncology 9352025
Bladder Cancer Oncology 9061686
Leukemia, Acute Myeloid Oncology 9022943
Multiple Sclerosis Diseases of the nervous system 8743134
Ulcerative Colitis Diseases of the digestive system 6951960
Crohn's Disease Diseases of the digestive system 6402221
Leukemia, Acute Lymphoblastic Oncology 6181536
Oral Cancer Oncology 613996
Leukemia, Chronic Lymphocytic Oncology 5271832
Amyotrophic Lateral Sclerosis Diseases of the nervous system 427796
Systemic Sclerosis Diseases of the musculoskeletal system and connective tissue 411812
Idiopathic Pulmonary Fibrosis Diseases of the respiratory system 395790
Myelodysplastic Syndromes Oncology 3871539
Nasopharyngeal Cancer Oncology 378661
Autism Mental and behavioral disorders 366980
Lung Cancer, Small Cell Oncology 364904
Ankylosing Spondylitis Diseases of the musculoskeletal system and connective tissue 3611382
Mesothelioma Oncology 360907
Diffuse Large B-cell Lymphoma Oncology 345739
Neuroblastoma Oncology 344726
Osteosarcoma Oncology 337537
Cystic Fibrosis Endocrine, nutritional and metabolic diseases 3371576
Pulmonary Arterial Hypertension Diseases of the circulatory system 3331166
Spinal Cord Injury Injury, poisoning and certain other consequences of external causes 328664
Epilepsy Diseases of the nervous system 326786
Transitional Cell Carcinoma Oncology 305754
Cardiac Surgery Diseases of the circulatory system 290825
Sickle Cell Anaemia Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 262873
Polycystic Ovarian Syndrome Endocrine, nutritional and metabolic diseases 2591211
Cholangiocarcinoma Oncology 258508
Fibromyalgia Diseases of the musculoskeletal system and connective tissue 232824
Laryngeal Cancer Oncology 215568
Gastrointestinal Stromal Tumor (GIST) Oncology 203542
Mantle Cell Lymphoma Oncology 196530
Fallopian Tube Cancer Oncology 1921006
Non-Alcoholic Steatohepatitis Diseases of the digestive system 191733
Gallbladder Cancer Oncology 191407
Acute Respiratory Distress Syndrome Diseases of the respiratory system 183578
Follicular Lymphoma Oncology 174403
Cerebral Palsy Diseases of the nervous system 171381
Leukemia, Chronic Myelogenous Oncology 169902
Astrocytoma Oncology 164410
Haemophilia A Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 161426
Malaria Infectious and parasitic diseases 160522
Pituitary Tumor Oncology 154343
Testicular Cancer Oncology 145335
Sarcoma, Soft Tissue Oncology 145430
Huntington's Disease Diseases of the nervous system 143266
Beta Thalassemia Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 139333
Tuberculosis Infectious and parasitic diseases 135243
Polycystic Kidney, Autosomal Dominant Congenital malformations, deformations and chromosomal abnormalities 135337
Duchenne Muscular Dystrophy Diseases of the nervous system 134265
Leukemia, Chronic Myeloid Oncology 133197
Behcet's Disease Diseases of the musculoskeletal system and connective tissue 132179
Rhabdomyosarcoma Oncology 117359
Neuroendocrine Tumor Oncology 117249
Lung Injury, Acute Injury, poisoning and certain other consequences of external causes 114367
Neuroendocrine Tumor, Pancreas Oncology 114291
Celiac Disease Diseases of the digestive system 111188
Sarcoma, Ewing Family of Tumors Oncology 106239
Hypopharyngeal Cancer Oncology 105358
Cutaneous T-Cell Lymphoma Oncology 104234
Medulloblastoma Oncology 104187
Myelofibrosis Oncology 103293
Aortic Valve Stenosis Diseases of the circulatory system 101329
Germ Cell Tumor Oncology 100216
Dermatomyositis Diseases of the musculoskeletal system and connective tissue 98228
Haemophilia B Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 96349
Fabry Disease Endocrine, nutritional and metabolic diseases 94329
Meningioma Oncology 94135
Biliary Tract Cancer Oncology 94321
Adult T-cell leukemia/lymphoma Oncology 87411
Abdominal Aortic Aneurysm Diseases of the circulatory system 86123
Thymic Carcinoma Oncology 86178
Small Lymphocytic Lymphoma Oncology 85266
Oligodendroglioma Oncology 84301
Dilated Cardiomyopathy Diseases of the circulatory system 83180
Polycythemia Vera Oncology 82152
Uveal Melanoma Oncology 82141
Anaplastic Large-Cell Lymphoma Oncology 81182
Follicular Thyroid Cancer Oncology 8190
Cushing's Syndrome Endocrine, nutritional and metabolic diseases 81293
Hypertrophic Cardiomyopathy Diseases of the circulatory system 79115
Essential Thrombocythemia Oncology 79141
Adrenocortical Carcinoma Oncology 78207
Lewy Body Dementia Diseases of the nervous system 77136
Tongue Cancer Oncology 7781
Cardiomyopathy Diseases of the circulatory system 76238
IgA Nephropathy Diseases of the genitourinary system 75234
Granulomatosis with Polyangiitis Diseases of the musculoskeletal system and connective tissue 73158
Amyloidosis Endocrine, nutritional and metabolic diseases 72127
Neurofibromatosis Type I Congenital malformations, deformations and chromosomal abnormalities 71116
Uveitis Diseases of the eye and adnexa 71136
Leukemia, Chronic Myelomonocytic Oncology 70224
Oligoastrocytoma Oncology 70290
Down Syndrome Congenital malformations, deformations and chromosomal abnormalities 70109
Prader-Willi Syndrome Congenital malformations, deformations and chromosomal abnormalities 69153
Bile Duct Cancer Oncology 69121
Hidradenitis Suppurativa Diseases of the skin and subcutaneous tissue 68124
Myotonic Dystrophy Type 1 Diseases of the nervous system 68160
Kawasaki Disease Diseases of the musculoskeletal system and connective tissue 67115
Juvenile Dermatomyositis Diseases of the musculoskeletal system and connective tissue 6774
Polymyositis Diseases of the musculoskeletal system and connective tissue 66111
Vulvar Cancer Oncology 6693
Spinal Muscular Atrophy Diseases of the nervous system 65163
Aplastic Anaemia Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 65161
Burkitt Lymphoma Oncology 65115
Pompe Disease Endocrine, nutritional and metabolic diseases 63230
Merkel Cell Carcinoma Oncology 6285
Meniere's Disease Diseases of the ear and mastoid process 62101
Marginal Zone Lymphoma Oncology 62116
Acromegaly Endocrine, nutritional and metabolic diseases 61184
Myasthenia Gravis Diseases of the nervous system 6187
Growth Hormone Deficiency Endocrine, nutritional and metabolic diseases 61276
Multiple System Atrophy Diseases of the nervous system 5997
Ewings Tumor Oncology 58169
Frontotemporal Dementia Diseases of the nervous system 5888
Juvenile Idiopathic Arthritis Diseases of the musculoskeletal system and connective tissue 5775
Progressive Supranuclear Palsy Diseases of the nervous system 5794
Lennox-Gastaut Syndrome Diseases of the nervous system 55108
Chronic Fatigue Syndrome Diseases of the nervous system 55128
Leiomyosarcoma Oncology 5583
Vitamin D Deficiency Endocrine, nutritional and metabolic diseases 53131
Tourette Syndrome Mental and behavioral disorders 53145
Pheochromocytoma Oncology 52171
Vitiligo Diseases of the skin and subcutaneous tissue 5267
Focal Segmental Glomerulosclerosis Diseases of the genitourinary system 51134
Hemolytic-Uremic Syndrome Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 51132
Wilms Tumor Oncology 5074
Familial Mediterranean Fever Endocrine, nutritional and metabolic diseases 50152
Polymyalgia Rheumatica Diseases of the musculoskeletal system and connective tissue 5095
Rett Syndrome Mental and behavioral disorders 4966
Interstitial Lung Disease Diseases of the respiratory system 4989
Liposarcoma Oncology 4989
Primary Sclerosing Cholangitis Diseases of the digestive system 49184
Dengue Fever Infectious and parasitic diseases 49101
Facioscapulohumeral Muscular Dystrophy Diseases of the nervous system 4871
Niemann-Pick Disease, Type C Endocrine, nutritional and metabolic diseases 4868
Becker's Muscular Dystrophy Diseases of the nervous system 4756
Tuberous Sclerosis Congenital malformations, deformations and chromosomal abnormalities 47133
Angiosarcoma Oncology 4676
Small Intestine Cancer Oncology 4684
Penile Cancer Oncology 4658
Chronic Thromboembolic Pulmonary Hypertension Diseases of the circulatory system 4592
Premature Ovarian Failure Diseases of the genitourinary system 45107
Phenylketonuria Endocrine, nutritional and metabolic diseases 45116
Interstitial Cystitis Diseases of the genitourinary system 44112
Thymoma Oncology 44130
Acute Promyelocytic Leukemia Oncology 4472
Anal Cancer Oncology 4388
Avascular Necrosis Diseases of the musculoskeletal system and connective tissue 42106
Primary Central Nervous System Lymphoma Oncology 4259
Medullary Thyroid Cancer Oncology 41116
Adrenoleukodystrophy Endocrine, nutritional and metabolic diseases 4045
Myeloproliferative Disease Oncology 4049
Limb-Girdle Muscular Dystrophy Diseases of the nervous system 3941
Congenital Adrenal Hyperplasia Endocrine, nutritional and metabolic diseases 3991
Gaucher Disease, Type 1 Endocrine, nutritional and metabolic diseases 39143
Neuroendocrine Tumor, Gastroenteropancreatic Oncology 3853
X-linked Hypophosphatemia Endocrine, nutritional and metabolic diseases 3884
Ependymoma Oncology 3894
Fragile X Syndrome Congenital malformations, deformations and chromosomal abnormalities 37104
Osteomyelitis Diseases of the musculoskeletal system and connective tissue 3748
Keratoconus Diseases of the eye and adnexa 3657
Hepatic Encephalopathy Diseases of the digestive system 3499
Charcot-Marie-Tooth Disease Diseases of the nervous system 3446
Hashimoto's Thyroiditis Endocrine, nutritional and metabolic diseases 3485
Carcinoid Tumor Oncology 34157
Mucopolysaccharidosis, Type IV Endocrine, nutritional and metabolic diseases 3474
Friedreich's Ataxia Diseases of the nervous system 3376
Gaucher Disease Endocrine, nutritional and metabolic diseases 33147
Chagas Disease Infectious and parasitic diseases 3334
Hypoparathyroidism Endocrine, nutritional and metabolic diseases 3367
Neurofibromatosis Type II Congenital malformations, deformations and chromosomal abnormalities 3343
Pyoderma Gangrenosum Diseases of the skin and subcutaneous tissue 3334
Peripheral T-Cell Lymphoma Oncology 3238
Osteonecrosis Diseases of the musculoskeletal system and connective tissue 3236
Bronchopulmonary Dysplasia Diseases of the respiratory system 3154
Inclusion Body Myositis Diseases of the musculoskeletal system and connective tissue 3144
Retinoblastoma Oncology 3142
Uterine Sarcoma Oncology 3164
Mastocytosis Congenital malformations, deformations and chromosomal abnormalities 3138
Takayasu's Arteritis Diseases of the musculoskeletal system and connective tissue 3158
Chondrosarcoma Oncology 3040
Juvenile Myelomonocytic Leukemia Oncology 3046
Narcolepsy Diseases of the nervous system 3049
Hypersensitivity Pneumonitis Diseases of the respiratory system 3035
Aspergillosis Infectious and parasitic diseases 29125
Synovial Sarcoma Oncology 2954
Hemiplegia Diseases of the nervous system 2934
Creutzfeldt-Jakob Disease Infectious and parasitic diseases 2959
Retinitis Pigmentosa Diseases of the eye and adnexa 2853
Hepatoblastoma Oncology 2831
Osteogenesis Imperfecta Congenital malformations, deformations and chromosomal abnormalities 2840
Mucopolysaccharidosis II Endocrine, nutritional and metabolic diseases 2876
Vaginal Cancer Oncology 2838
Idiopathic Interstitial Pneumonia Diseases of the respiratory system 2835
Chordoma Oncology 2733
Thrombotic Thrombocytopenic Purpura Diseases of the musculoskeletal system and connective tissue 2746
Short Bowel Syndrome Diseases of the digestive system 2693
Myotonic Dystrophy Type 2 Diseases of the nervous system 2637
Infective Endocarditis Diseases of the circulatory system 2651
Pseudomyxoma Peritonei Oncology 2650
Dravet Syndrome Diseases of the nervous system 2529
Hirschsprung Disease Congenital malformations, deformations and chromosomal abnormalities 2536
Fibrosarcoma Oncology 2527
Kaposi's Sarcoma Oncology 2563
Brugada Syndrome Diseases of the circulatory system 2525
Thalassemia Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 2471
Von Willebrand Disease Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 2438
Mucopolysaccharidosis I Endocrine, nutritional and metabolic diseases 2457
Adenomyosis Diseases of the genitourinary system 2438
Islet Cell Tumors Oncology 24123
Ampulla of Vater Carcinoma Oncology 2326
Klinefelter Syndrome Congenital malformations, deformations and chromosomal abnormalities 2335
Asperger's Syndrome Mental and behavioral disorders 2346
Visceral Leishmaniasis Infectious and parasitic diseases 23110
Cervical Dystonia Diseases of the nervous system 2358
Necrotizing Enterocolitis Certain conditions originating in the perinatal period 2333
Myotonic Dystrophy Diseases of the nervous system 2373
Postural Orthostatic Tachycardia Syndrome Diseases of the nervous system 2236
Myositis Diseases of the musculoskeletal system and connective tissue 2242
Cutaneous Leishmaniasis Infectious and parasitic diseases 2282
Retinopathy of Prematurity Diseases of the eye and adnexa 2233
Oral Submucous Fibrosis Diseases of the digestive system 2122
Noonan Syndrome Congenital malformations, deformations and chromosomal abnormalities 2154
Ebola Virus Disease Infectious and parasitic diseases 2139
Spinocerebellar Ataxia Type 3 Diseases of the nervous system 2132
Paroxysmal Nocturnal Hemoglobinuria Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 2161
Neuroendocrine Tumor, Small Intestine Oncology 2123
Malignant Peripheral Nerve Sheath Tumor Oncology 2025
Spina Bifida Congenital malformations, deformations and chromosomal abnormalities 2033
Extrahepatic Bile Duct Cancer Oncology 2053
Pulmonary Arterial Hypertension-Systemic Sclerosis Diseases of the circulatory system 2025
Hereditary Spastic Paraplegia Diseases of the nervous system 2065
Atrial Septal Defect Congenital malformations, deformations and chromosomal abnormalities 1926
Ovarian Hyperstimulation Syndrome Diseases of the genitourinary system 1935
Bacterial Meningitis Infectious and parasitic diseases 1939
Pneumoconiosis Diseases of the respiratory system 1921
Corticobasal Degeneration Diseases of the nervous system 1819
Hereditary Haemorrhagic Telangiectasia Diseases of the circulatory system 1849
Lymphoblastic Lymphoma Oncology 1821
Pseudoxanthoma Elasticum Congenital malformations, deformations and chromosomal abnormalities 1833
Normal Pressure Hydrocephalus Diseases of the nervous system 1824
Central Retinal Vein Occlusion Diseases of the eye and adnexa 1758
Oral Cancer risk-Leukoplakia Oncology 1735
Gestational Trophoblastic Tumor Oncology 1719
Localized Scleroderma Diseases of the skin and subcutaneous tissue 1726
Interstitial Lung Disease-Systemic Sclerosis Diseases of the respiratory system 1724
Primitive Neuroectodermal Tumor Oncology 1620
Ventricular Septal Defect Congenital malformations, deformations and chromosomal abnormalities 1623
Central Precocious Puberty Endocrine, nutritional and metabolic diseases 1670
AIDS-Related Lymphoma Oncology 1642
Primary Hyperparathyroidism Endocrine, nutritional and metabolic diseases 1649
Primary Systemic Amyloidosis Endocrine, nutritional and metabolic diseases 1643
Leukemia, Acute Megakaryoblastic Oncology 1515
Angioimmunoblastic T-Cell Lymphoma Oncology 1515
Ornithine Transcarbamylase Deficiency Endocrine, nutritional and metabolic diseases 1543
Haemophagocytic Lymphohistiocytosis Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 1539
Chronic Inflammatory Demyelinating Polyneuropathy Diseases of the nervous system 1529
Infant Respiratory Distress Syndrome Certain conditions originating in the perinatal period 1521
Ganglioglioma Oncology 1562
Leprosy Infectious and parasitic diseases 1516
Muckle Wells Syndrome Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 1437
Trigeminal Neuralgia Diseases of the nervous system 1417
Metachromatic Leukodystrophy Endocrine, nutritional and metabolic diseases 1414
Relapsing Polychondritis Diseases of the musculoskeletal system and connective tissue 1314
Coeliac Disease Diseases of the digestive system 1314
Leptospirosis Infectious and parasitic diseases 1325
Amelogenesis Imperfecta Diseases of the digestive system 1313
Metabolic Syndrome Endocrine, nutritional and metabolic diseases 1318
Nephropathic Cystinosis Endocrine, nutritional and metabolic diseases 1317
Hypophosphatasia Endocrine, nutritional and metabolic diseases 1326
Achalasia Diseases of the digestive system 1322
Blepharospasm Diseases of the nervous system 1330
Optic Neuritis Diseases of the eye and adnexa 1322
Kleine-Levin Syndrome Diseases of the nervous system 1212
Natural Killer T Cell Lymphoma Oncology 1215
Leukemia, Acute Myeloid-Myelodysplastic Syndromes Oncology 1212
Central Serous Retinopathy Diseases of the eye and adnexa 1257
Mixed Connective Tissue Disease Diseases of the musculoskeletal system and connective tissue 1222
Pineoblastoma Oncology 1212
Cerebral Cavernous Malformations Congenital malformations, deformations and chromosomal abnormalities 1221
Bernard-Soulier Syndrome Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 1212
Interstitial Lung Disease-Rheumatoid Arthritis Diseases of the respiratory system 1214
Oculocutaneous Albinism Endocrine, nutritional and metabolic diseases 1212
Spinal Muscular Atrophy Type I Diseases of the nervous system 1253
Familial Cold Autoinflammatory Syndrome Diseases of the skin and subcutaneous tissue 1240
Polycystic Kidney, Autosomal Recessive Congenital malformations, deformations and chromosomal abnormalities 1111
IgG4-Related Disease Diseases of the musculoskeletal system and connective tissue 1115
Pigmented Villonodular Synovitis Diseases of the musculoskeletal system and connective tissue 1122
Myeloproliferative Disorders, Chronic Oncology 1124
Cardiomyopathy-Cushing's Syndrome Diseases of the circulatory system 1111
Spinal Muscular Atrophy Type III Diseases of the nervous system 1155
Follicular Dendritic Cell Sarcoma Oncology 1111
Syringomyelia Diseases of the nervous system 1111
Leber Hereditary Optic Neuropathy Diseases of the eye and adnexa 1117
Patent Ductus Arteriosus Congenital malformations, deformations and chromosomal abnormalities 1123
Tetralogy of Fallot Congenital malformations, deformations and chromosomal abnormalities 1119
Pilocytic Astrocytoma Oncology 1113
Night Blindness Diseases of the eye and adnexa 1123
Eosinophilic Fasciitis Diseases of the musculoskeletal system and connective tissue 1118
Osteopetrosis Congenital malformations, deformations and chromosomal abnormalities 1127
Spinal Muscular Atrophy Type II Diseases of the nervous system 1155
Hydrocephalus Diseases of the nervous system 1026
Oculopharyngeal Muscular Dystrophy Diseases of the nervous system 1010
Pulmonary Arterial Hypertension-Systemic Lupus Erythematosus Diseases of the circulatory system 1010
Spinocerebellar Ataxia Type 2 Diseases of the nervous system 1010
Congenital Diaphragmatic Hernia Congenital malformations, deformations and chromosomal abnormalities 1016
Encephalitis Infectious and parasitic diseases 1015
Kallmann Syndrome Endocrine, nutritional and metabolic diseases 1010
Achondroplasia Congenital malformations, deformations and chromosomal abnormalities 1016
Homocystinuria Endocrine, nutritional and metabolic diseases 1021
Alkaptonuria Endocrine, nutritional and metabolic diseases 1021
Melioidosis Infectious and parasitic diseases 1010
Schistosomiasis Infectious and parasitic diseases 1037
Myasthenia Gravis-Thymoma Diseases of the nervous system 99
Dyskeratosis Congenita Congenital malformations, deformations and chromosomal abnormalities 916
de Quervain Syndrome Diseases of the musculoskeletal system and connective tissue 933
Interstitial Lung Disease-Common Variable Immunodeficiency Diseases of the respiratory system 99
Mucopolysaccharidosis III Endocrine, nutritional and metabolic diseases 922
Generalized Pustular Psoriasis Diseases of the skin and subcutaneous tissue 99
Pseudohypoparathyroidism Endocrine, nutritional and metabolic diseases 99
Erythema Multiforme Diseases of the skin and subcutaneous tissue 99
Hypereosinophilic Syndrome Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 920
Glossodynia Diseases of the digestive system 912
Ehlers-Danlos Syndrome Congenital malformations, deformations and chromosomal abnormalities 910
Stargardt Disease Diseases of the eye and adnexa 911
Fibrous Dysplasia Diseases of the musculoskeletal system and connective tissue 917
Epidermolysis Bullosa Dystrophica Congenital malformations, deformations and chromosomal abnormalities 912
Melanoma, Intraocular (Eye) Oncology 922
Fanconi Anaemia Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 915
Idiopathic Membranous Nephropathy Diseases of the genitourinary system 914
Lesch-Nyhan Syndrome Endocrine, nutritional and metabolic diseases 910
Alexander Disease Endocrine, nutritional and metabolic diseases 99
Primary Hypertrophic Osteoarthropathy Diseases of the musculoskeletal system and connective tissue 99
Myocarditis Diseases of the circulatory system 917
Cold Urticaria Diseases of the skin and subcutaneous tissue 99
Moyamoya Disease Diseases of the circulatory system 99
Trichotillomania Mental and behavioral disorders 812
Lichen Sclerosus Diseases of the skin and subcutaneous tissue 88
Alopecia Universalis Diseases of the skin and subcutaneous tissue 89
Propionic Acidemia Endocrine, nutritional and metabolic diseases 811
Benign Intracranial Hypertension Diseases of the nervous system 813
Thrombotic Thrombocytopenic Purpura-Systemic Lupus Erythematosus Diseases of the musculoskeletal system and connective tissue 810
Menkes Disease Endocrine, nutritional and metabolic diseases 821
Angelman Syndrome Congenital malformations, deformations and chromosomal abnormalities 822
Leigh Disease Diseases of the nervous system 88
Obliterative Bronchiolitis Diseases of the respiratory system 88
Anterior Ischemic Optic Neuropathy Diseases of the eye and adnexa 89
Cleft Lip-Cleft Palate Congenital malformations, deformations and chromosomal abnormalities 88
Keshan Disease Endocrine, nutritional and metabolic diseases 88
Familial Dysautonomia Diseases of the nervous system 810
Idiopathic Basal Ganglia Calcification Diseases of the nervous system 88
Diamond-Blackfan Anemia Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 817
Fetal Alcohol Syndrome Congenital malformations, deformations and chromosomal abnormalities 88
Myotonia Congenita Diseases of the nervous system 89
Shwachman-Diamond Syndrome Congenital malformations, deformations and chromosomal abnormalities 88
Leber's Congenital Amaurosis Diseases of the eye and adnexa 812
Lyme Disease Infectious and parasitic diseases 88
Polyarteritis Nodosa Diseases of the musculoskeletal system and connective tissue 825
Alport Syndrome Congenital malformations, deformations and chromosomal abnormalities 829
Ganglioneuroblastoma Oncology 89
Fibrodysplasia Ossificans Progressiva Diseases of the musculoskeletal system and connective tissue 811
Hermansky-Pudlak Syndrome Endocrine, nutritional and metabolic diseases 820
Niemann-Pick Disease, Type A Endocrine, nutritional and metabolic diseases 88
Alopecia Totalis Diseases of the skin and subcutaneous tissue 89
Fibromyalgia-Rheumatoid Arthritis Diseases of the musculoskeletal system and connective tissue 810
Alpha-1-Antitrypsin Deficiency Endocrine, nutritional and metabolic diseases 818
Gliosarcoma Oncology 77
Achromatopsia Diseases of the eye and adnexa 77
Pure Autonomic Failure Diseases of the nervous system 712
Meconium Aspiration Syndrome Certain conditions originating in the perinatal period 77
Castleman's Disease Oncology 714
Machado-Joseph Disease Diseases of the nervous system 77
Methylmalonic Acidemia Endocrine, nutritional and metabolic diseases 712
Aicardi-Goutieres Syndrome Diseases of the nervous system 79
Syndrome of Inappropriate Antidiuretic Hormone Secretion Endocrine, nutritional and metabolic diseases 710
Marfan Syndrome Congenital malformations, deformations and chromosomal abnormalities 726
Ohtahara Syndrome Diseases of the nervous system 78
Congenital Myasthenic Syndrome Diseases of the nervous system 77
Legionnaires Disease Infectious and parasitic diseases 719
Wolfram Syndrome Endocrine, nutritional and metabolic diseases 77
Burning Mouth Syndrome Diseases of the digestive system 78
Acute Intermittent Porphyria Endocrine, nutritional and metabolic diseases 79
Craniosynostosis Congenital malformations, deformations and chromosomal abnormalities 717
Pulmonary Arterial Hypertension-Congenital Heart Disease Diseases of the circulatory system 77
Precocious Puberty Endocrine, nutritional and metabolic diseases 632
Barth Syndrome Endocrine, nutritional and metabolic diseases 66
Niemann-Pick Disease, Type B Endocrine, nutritional and metabolic diseases 66
Hereditary Nonpolyposis Colorectal Cancer Oncology 67
Primary Ciliary Dyskinesia Congenital malformations, deformations and chromosomal abnormalities 69
Van Der Woude Syndrome Congenital malformations, deformations and chromosomal abnormalities 616
Spinocerebellar Ataxia Diseases of the nervous system 66
Phelan-McDermid Syndrome Congenital malformations, deformations and chromosomal abnormalities 66
Cluster Headache Diseases of the nervous system 66
Erythromelalgia Diseases of the circulatory system 67
Mucopolysaccharidosis VI Endocrine, nutritional and metabolic diseases 610
Motor Neuron Disease Diseases of the nervous system 66
Atypical Teratoid Rhabdoid Tumor Oncology 66
Tuberculous Meningitis Infectious and parasitic diseases 66
Progressive Multifocal Leukoencephalopathy Infectious and parasitic diseases 66
Medulloblastoma, Childhood Oncology 613
Bartter Syndrome Endocrine, nutritional and metabolic diseases 619
Brucellosis Infectious and parasitic diseases 614
Turner's Syndrome Congenital malformations, deformations and chromosomal abnormalities 610
Chronic Traumatic Encephalopathy Diseases of the nervous system 66
Atrioventricular Septal Defect Congenital malformations, deformations and chromosomal abnormalities 69
Bicuspid Aortic Valve Congenital malformations, deformations and chromosomal abnormalities 610
Pelizaeus-Merzbacher Disease Endocrine, nutritional and metabolic diseases 66
Ovarian Germ Cell Tumor Oncology 518
Rheumatic Fever Diseases of the circulatory system 55
Choroideremia Diseases of the eye and adnexa 56
Embryonal Carcinoma Oncology 57
Congenital Hypopituitarism Congenital malformations, deformations and chromosomal abnormalities 55
Progeria Endocrine, nutritional and metabolic diseases 57
Spinal and Bulbar Muscular Atrophy Diseases of the nervous system 514
Lafora Disease Diseases of the nervous system 55
Carcinoid Syndrome Endocrine, nutritional and metabolic diseases 515
Sitosterolemia Endocrine, nutritional and metabolic diseases 57
Schopf-Schulz-Passarge Syndrome Congenital malformations, deformations and chromosomal abnormalities 55
Osgood Schlatter Disease Diseases of the musculoskeletal system and connective tissue 55
Langerhans Cell Histiocytosis Oncology 511
Batten Disease Endocrine, nutritional and metabolic diseases 56
Filariasis Infectious and parasitic diseases 58
Sandhoff Disease Endocrine, nutritional and metabolic diseases 55
Centronuclear Myopathy Diseases of the nervous system 55
Chronic Graft Versus Host Disease Injury, poisoning and certain other consequences of external causes 55
Leukemia, Acute Erythroid Oncology 55
West Syndrome Diseases of the nervous system 55
Gaucher Disease, Type 3 Endocrine, nutritional and metabolic diseases 58
Fibromyalgia-Hashimoto's Thyroiditis Diseases of the musculoskeletal system and connective tissue 59
Recurrent Respiratory Papillomatosis Diseases of the respiratory system 517
Anal Fistula Diseases of the digestive system 56
Status Epilepticus Diseases of the nervous system 56
Crimean-Congo Hemorrhagic Fever Infectious and parasitic diseases 55
Brain Tumor, Childhood Oncology 49
Opsoclonus Myoclonus Syndrome Diseases of the nervous system 44
Alveolar Echinococcosis Infectious and parasitic diseases 46
Coccidioidomycosis Infectious and parasitic diseases 412
Lowe Syndrome Endocrine, nutritional and metabolic diseases 44
Subacute Sclerosing Panencephalitis Infectious and parasitic diseases 44
Congenital Generalized Lipodystrophy Endocrine, nutritional and metabolic diseases 410
Haemophilia Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 44
Pulmonary Anthrax Infectious and parasitic diseases 44
Mucolipidosis Type III Endocrine, nutritional and metabolic diseases 44
Familial Hypobetalipoproteinemia Endocrine, nutritional and metabolic diseases 45
Pure Red Cell Aplasia Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 44
Darier's Disease Congenital malformations, deformations and chromosomal abnormalities 44
Alpha Thalassemia Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 410
Smith-Lemli-Opitz Syndrome Endocrine, nutritional and metabolic diseases 49
Occult Macular Dystrophy Diseases of the eye and adnexa 44
Hepatosplenic T-cell Lymphoma Oncology 44
Hypochondroplasia Congenital malformations, deformations and chromosomal abnormalities 413
Spinocerebellar Ataxia Type 1 Diseases of the nervous system 44
Neuronal Ceroid Lipofuscinosis Endocrine, nutritional and metabolic diseases 49
Cardiofaciocutaneous Syndrome Congenital malformations, deformations and chromosomal abnormalities 45
Tropical Spastic Paraparesis Diseases of the nervous system 48
Spinocerebellar Ataxia Type 7 Diseases of the nervous system 44
Cholesteatoma Diseases of the ear and mastoid process 45
Enteropathy-associated T-cell Lymphoma Oncology 44
Lipoprotein Lipase Deficiency Endocrine, nutritional and metabolic diseases 412
Rheumatoid Arthritis-Systemic Lupus Erythematosus Diseases of the musculoskeletal system and connective tissue 47
Alagille Syndrome Congenital malformations, deformations and chromosomal abnormalities 47
Polycystic Liver Disease, Autosomal Dominant Congenital malformations, deformations and chromosomal abnormalities 44
Toxic Epidermal Necrolysis Diseases of the skin and subcutaneous tissue 44
Usher Syndrome Diseases of the eye and adnexa 44
Crigler-Najjar Syndrome Endocrine, nutritional and metabolic diseases 46
Arrhythmogenic Right Ventricular Dysplasia Diseases of the circulatory system 46
Krabbe Disease Endocrine, nutritional and metabolic diseases 44
Von Hippel-lindau Syndrome Congenital malformations, deformations and chromosomal abnormalities 36
Congenital Central Hypoventilation Syndrome Diseases of the nervous system 33
Erdheim-Chester Disease Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 35
Gastroschisis Congenital malformations, deformations and chromosomal abnormalities 327
Bowen's Disease Oncology 33
Sickle Cell Anaemia-Avascular Necrosis Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 34
Hoyeraal-Hreidarsson Syndrome Congenital malformations, deformations and chromosomal abnormalities 33
Nasu-Hakola Disease Endocrine, nutritional and metabolic diseases 33
Pyruvate Dehydrogenase Deficiency Endocrine, nutritional and metabolic diseases 33
Primary Lateral Sclerosis Diseases of the nervous system 35
Spinocerebellar Ataxia Type 36 Diseases of the nervous system 33
Blastomycosis Infectious and parasitic diseases 33
Multiple Endocrine Neoplasia 1 and 2 Oncology 317
Cleidocranial Dysostosis Congenital malformations, deformations and chromosomal abnormalities 34
Porphyria Cutanea Tarda Endocrine, nutritional and metabolic diseases 324
Dermatofibrosarcoma Protuberans Oncology 33
CINCA Syndrome Endocrine, nutritional and metabolic diseases 34
Leukodystrophy Endocrine, nutritional and metabolic diseases 33
Paramyotonia Congenita Diseases of the nervous system 33
Uveitis-Juvenile Rheumatoid Arthritis Diseases of the eye and adnexa 33
Non-24-Hour Sleep-Wake Disorder Diseases of the nervous system 36
Nemaline Myopathy Diseases of the nervous system 33
Zollinger-Ellison Syndrome Endocrine, nutritional and metabolic diseases 34
Familial Hypocalciuric Hypercalcemia Endocrine, nutritional and metabolic diseases 36
Lymphomatoid Papulosis Oncology 33
Cryptogenic Organizing Pneumonia Diseases of the respiratory system 33
Primary Hyperoxaluria Endocrine, nutritional and metabolic diseases 312
Typhoid Fever Infectious and parasitic diseases 314
Budd-Chiari Syndrome Diseases of the circulatory system 33
Myoepithelial Carcinoma Oncology 33
Hyperlipoproteinemia, Type I Endocrine, nutritional and metabolic diseases 33
Depersonalization Disorder Mental and behavioral disorders 34
Subacute Cutaneous Lupus Erythematosus Diseases of the skin and subcutaneous tissue 37
Histiocytic Sarcoma Oncology 33
Congenital Afibrinogenemia Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 38
Malignant Hyperthermia Injury, poisoning and certain other consequences of external causes 33
Gerstmann-Straussler-Scheinker Syndrome Infectious and parasitic diseases 33
Adrenal Cancer Oncology 36
Spasmodic Torticollis Diseases of the nervous system 315
Hepatorenal Syndrome Diseases of the digestive system 36
Netherton Syndrome Congenital malformations, deformations and chromosomal abnormalities 33
Gitelman Syndrome Diseases of the genitourinary system 33
Andersen-Tawil Syndrome Diseases of the circulatory system 33
Cardiomyopathy-Amyloidosis Diseases of the circulatory system 33
Esophageal Atresia Congenital malformations, deformations and chromosomal abnormalities 37
Orotic aciduria Endocrine, nutritional and metabolic diseases 33
Congenital Hypothyroidism Endocrine, nutritional and metabolic diseases 313
Congenital Dyserythropoietic Anaemia Type I Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 22
Hyperimmunoglobulinemia D Syndrome Endocrine, nutritional and metabolic diseases 22
Central Serous Chorioretinopathy Diseases of the eye and adnexa 23
Idiopathic Hypersomnia Diseases of the nervous system 22
Maple Syrup Urine Disease Endocrine, nutritional and metabolic diseases 22
Chronic Beryllium Disease Diseases of the respiratory system 22
Osteochondritis Dissecans Diseases of the musculoskeletal system and connective tissue 22
Goodpasture Syndrome Diseases of the musculoskeletal system and connective tissue 22
Xeroderma Pigmentosum Congenital malformations, deformations and chromosomal abnormalities 26
Joubert Syndrome Congenital malformations, deformations and chromosomal abnormalities 23
Mucolipidosis Type IV Endocrine, nutritional and metabolic diseases 29
Systemic Vasculitis Diseases of the musculoskeletal system and connective tissue 22
Takotsubo Cardiomyopathy Diseases of the circulatory system 22
Algoneurodystrophy Diseases of the musculoskeletal system and connective tissue 24
Bardet-Biedl Syndrome Congenital malformations, deformations and chromosomal abnormalities 24
Mucolipidosis Type II Endocrine, nutritional and metabolic diseases 22
Epidermolytic Hyperkeratosis Congenital malformations, deformations and chromosomal abnormalities 22
Unverricht-Lundborg Disease Diseases of the nervous system 22
Choriocarcinoma Oncology 22
Mixed Connective Tissue Disease-Systemic Lupus Erythematosus Diseases of the musculoskeletal system and connective tissue 22
Hereditary Sensory and Autonomic Neuropathy Diseases of the nervous system 22
Nevoid Basal-Cell Carcinoma Syndrome Congenital malformations, deformations and chromosomal abnormalities 26
Eisenmenger Syndrome Congenital malformations, deformations and chromosomal abnormalities 22
Acanthosis Nigricans-Polycystic Ovarian Syndrome Diseases of the skin and subcutaneous tissue 22
Pneumococcal Meningitis Diseases of the nervous system 23
Hypodontia Diseases of the digestive system 22
Progressive External Ophthalmoplegia Diseases of the eye and adnexa 22
Portal Vein Thrombosis Diseases of the circulatory system 22
Cockayne Syndrome Congenital malformations, deformations and chromosomal abnormalities 26
Kleefstra Syndrome Congenital malformations, deformations and chromosomal abnormalities 22
Palmoplantar Keratoderma Diseases of the skin and subcutaneous tissue 22
Cone Dystrophy Diseases of the ear and mastoid process 22
Non-Hodgkin lymphoma Risk-Sicca Syndrome (Sjogren) Oncology 22
TNF receptor Associated Periodic Syndrome Endocrine, nutritional and metabolic diseases 22
Hypertrichosis Congenital malformations, deformations and chromosomal abnormalities 26
Ectodermal Dysplasia Congenital malformations, deformations and chromosomal abnormalities 22
Leri-Weill Dyschondrosteosis Congenital malformations, deformations and chromosomal abnormalities 22
Systemic Lupus Erythematosus-CREST syndrome Diseases of the musculoskeletal system and connective tissue 22
Apert Syndrome Congenital malformations, deformations and chromosomal abnormalities 22
Variegate Porphyria Endocrine, nutritional and metabolic diseases 11
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Diseases of the nervous system 11
Dubin-Johnson Syndrome Endocrine, nutritional and metabolic diseases 11
Rabson-Mendenhall Syndrome Endocrine, nutritional and metabolic diseases 17
Wegener's Granulomatosis Diseases of the musculoskeletal system and connective tissue 11
Grey Platelet Syndrome Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 11
Posterior Polymorphous Corneal Dystrophy Diseases of the eye and adnexa 11
Dilated Cardiomyopathy risk-Healthy Diseases of the circulatory system 11
Omphalocele Congenital malformations, deformations and chromosomal abnormalities 11
Charge Syndrome Congenital malformations, deformations and chromosomal abnormalities 13
Fraser Syndrome Congenital malformations, deformations and chromosomal abnormalities 13
Cutis Laxa Congenital malformations, deformations and chromosomal abnormalities 11
3-M Syndrome Congenital malformations, deformations and chromosomal abnormalities 11
Di George's syndrome Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 11
Yunis-Varon Syndrome Congenital malformations, deformations and chromosomal abnormalities 13
Hepatic Veno-Occlusive Disease Diseases of the digestive system 19
Cerebrotendineous Xanthomatosis Endocrine, nutritional and metabolic diseases 11
Teratoma Oncology 11
Marinesco-Sjogren Syndrome Diseases of the nervous system 11
KID Syndrome Congenital malformations, deformations and chromosomal abnormalities 11
Microcephaly Congenital malformations, deformations and chromosomal abnormalities 11
Glomus Tumor Oncology 11
Asbestosis Diseases of the respiratory system 11
Polymyositis-Interstitial Lung Disease Diseases of the musculoskeletal system and connective tissue 11
Mucolipidosis Type I Endocrine, nutritional and metabolic diseases 11
Langer Mesomelic Dysplasia Congenital malformations, deformations and chromosomal abnormalities 11
Helminthiasis Infectious and parasitic diseases 11
Leukemia, Chronic Neutrophilic Oncology 11
Aplasia Cutis Congenita Congenital malformations, deformations and chromosomal abnormalities 11
Lymphoedema Diseases of the circulatory system 11
Congenital Dyserythropoietic Anaemia Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 11
Neovascular Glaucoma Diseases of the eye and adnexa 11
Necrotizing Fasciitis Diseases of the musculoskeletal system and connective tissue 11
Extramammary Paget Disease Oncology 11
Hemophagocytic Syndrome-Juvenile Idiopathic Arthritis Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 11
Malignant Mesenchymal Tumor Oncology 12
Lymphomatous Meningitis Oncology 11
Freeman-Sheldon Syndrome Congenital malformations, deformations and chromosomal abnormalities 11
Peutz-Jeghers Syndrome Congenital malformations, deformations and chromosomal abnormalities 14
Pouchitis Diseases of the digestive system 11
Eosinophilic Colitis Diseases of the digestive system 11
Germ Cell Tumor, Extragonadal Oncology 11
Pendred Syndrome Endocrine, nutritional and metabolic diseases 11
Cystinosis Endocrine, nutritional and metabolic diseases 11
Oculotrichoanal Syndrome Congenital malformations, deformations and chromosomal abnormalities 11
Dermatofibroma Oncology 11
Hemophagocytic Syndrome-Adult Onset Still's Disease Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 11
Tick Borne Encephalitis Infectious and parasitic diseases 11
Hemophagocytic Syndrome-Systemic Lupus Erythematosus Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 11
Dent Disease Type 2 Diseases of the genitourinary system 11
Osteonecrosis-Systemic Lupus Erythematosus Diseases of the musculoskeletal system and connective tissue 11
Arthrogryposis Multiplex Congenita Congenital malformations, deformations and chromosomal abnormalities 13
Thiamine Deficiency Endocrine, nutritional and metabolic diseases 11
Sturge-Weber Syndrome Congenital malformations, deformations and chromosomal abnormalities 13
Hereditary Sensory And Autonomic Neuropathy Type 1 Diseases of the nervous system 11
Acute Rheumatic Fever Diseases of the circulatory system 11
Mucopolysaccharidosis VII Endocrine, nutritional and metabolic diseases 11
Hypoplastic Left Heart Syndrome Congenital malformations, deformations and chromosomal abnormalities 13
Metaphyseal Dysplasia Congenital malformations, deformations and chromosomal abnormalities 11
Wolff-Hirschorn Syndrome Congenital malformations, deformations and chromosomal abnormalities 13
Acrodermatitis Enteropathica Endocrine, nutritional and metabolic diseases 11
Oligodontia Diseases of the digestive system 11
Fructose Malabsorption Endocrine, nutritional and metabolic diseases 12
Toxic Encephalopathy Diseases of the nervous system 13
Beta-Thalassemia Intermedia Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 11
Rubinstein-Taybi Syndrome Congenital malformations, deformations and chromosomal abnormalities 13
Microcytic Anemia Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 11
Cornelia De Lange Syndrome Congenital malformations, deformations and chromosomal abnormalities 11
Onchocerciasis Infectious and parasitic diseases 11
Pigment Dispersion Syndrome Diseases of the eye and adnexa 14
Kasabach-Merritt Syndrome Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 11
Endophthalmitis Diseases of the eye and adnexa 11
5-Alpha-Reductase Deficiency Endocrine, nutritional and metabolic diseases 11
Benign Rolandic Epilepsy Diseases of the nervous system 11
Renal Agenesis, Bilateral Congenital malformations, deformations and chromosomal abnormalities 11
Norrie Disease Congenital malformations, deformations and chromosomal abnormalities 11
Hereditary Coproporphyria Endocrine, nutritional and metabolic diseases 11
Adams-Oliver Syndrome Congenital malformations, deformations and chromosomal abnormalities 13
Total : 34586 88808