Database statistics by Orphan/Rare Disease
Number of Indications: 638 Number of total Biomarkers: 33302
 
Indications(Orphan/Rare Disease) Therapeutic Area Number of Biomarkers Number of Total References
Ovarian Cancer Oncology 16375058
Pancreatic Cancer Oncology 13914261
Glioblastoma Multiforme Oncology 10132504
Kidney (Renal Cell) Cancer Oncology 9943300
Multiple Sclerosis Diseases of the nervous system 8733131
Esophageal Cancer Oncology 8721910
Leukemia, Acute Myeloid Oncology 8622821
Bladder Cancer Oncology 8521588
Ulcerative Colitis Diseases of the digestive system 6241861
Crohn's Disease Diseases of the digestive system 5922155
Oral Cancer Oncology 580947
Leukemia, Acute Lymphoblastic Oncology 5501433
Leukemia, Chronic Lymphocytic Oncology 4961756
Amyotrophic Lateral Sclerosis Diseases of the nervous system 427796
Systemic Sclerosis Diseases of the musculoskeletal system and connective tissue 403804
Idiopathic Pulmonary Fibrosis Diseases of the respiratory system 394789
Myelodysplastic Syndromes Oncology 3811503
Lung Cancer, Small Cell Oncology 364875
Autism Mental and behavioral disorders 360972
Nasopharyngeal Cancer Oncology 358615
Cystic Fibrosis Endocrine, nutritional and metabolic diseases 3371576
Mesothelioma Oncology 334852
Pulmonary Arterial Hypertension Diseases of the circulatory system 3311163
Neuroblastoma Oncology 329698
Spinal Cord Injury Injury, poisoning and certain other consequences of external causes 328664
Epilepsy Diseases of the nervous system 326785
Diffuse Large B-cell Lymphoma Oncology 321665
Ankylosing Spondylitis Diseases of the musculoskeletal system and connective tissue 3191340
Osteosarcoma Oncology 312495
Transitional Cell Carcinoma Oncology 295697
Cardiac Surgery Diseases of the circulatory system 289824
Sickle Cell Anaemia Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 260871
Polycystic Ovarian Syndrome Endocrine, nutritional and metabolic diseases 2551207
Cholangiocarcinoma Oncology 243470
Fibromyalgia Diseases of the musculoskeletal system and connective tissue 232824
Laryngeal Cancer Oncology 211549
Non-Alcoholic Steatohepatitis Diseases of the digestive system 191733
Gastrointestinal Stromal Tumor (GIST) Oncology 186521
Mantle Cell Lymphoma Oncology 185496
Acute Respiratory Distress Syndrome Diseases of the respiratory system 182577
Fallopian Tube Cancer Oncology 177934
Gallbladder Cancer Oncology 175379
Cerebral Palsy Diseases of the nervous system 171381
Haemophilia A Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 161426
Astrocytoma Oncology 160402
Follicular Lymphoma Oncology 159366
Leukemia, Chronic Myelogenous Oncology 158881
Malaria Infectious and parasitic diseases 154514
Pituitary Tumor Oncology 153342
Testicular Cancer Oncology 145335
Huntington's Disease Diseases of the nervous system 142265
Sarcoma, Soft Tissue Oncology 139413
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 132189
Behcet's Disease Diseases of the musculoskeletal system and connective tissue 131178
Lung Injury, Acute Injury, poisoning and certain other consequences of external causes 114367
Neuroendocrine Tumor, Pancreas Oncology 113290
Celiac Disease Diseases of the digestive system 109186
Rhabdomyosarcoma Oncology 108345
Sarcoma, Ewing Family of Tumors Oncology 106237
Neuroendocrine Tumor Oncology 105219
Cutaneous T-Cell Lymphoma Oncology 103232
Aortic Valve Stenosis Diseases of the circulatory system 101329
Hypopharyngeal Cancer Oncology 100340
Myelofibrosis Oncology 98283
Dermatomyositis Diseases of the musculoskeletal system and connective tissue 98227
Medulloblastoma Oncology 96179
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
Germ Cell Tumor Oncology 93205
Abdominal Aortic Aneurysm Diseases of the circulatory system 86123
Meningioma Oncology 86121
Thymic Carcinoma Oncology 85175
Adult T-cell leukemia/lymphoma Oncology 85406
Small Lymphocytic Lymphoma Oncology 84265
Biliary Tract Cancer Oncology 84304
Dilated Cardiomyopathy Diseases of the circulatory system 83180
Cushing's Syndrome Endocrine, nutritional and metabolic diseases 81293
Polycythemia Vera Oncology 81151
Oligodendroglioma Oncology 80295
Anaplastic Large-Cell Lymphoma Oncology 79179
Hypertrophic Cardiomyopathy Diseases of the circulatory system 79115
Essential Thrombocythemia Oncology 78139
Uveal Melanoma Oncology 78134
Cardiomyopathy Diseases of the circulatory system 76238
Lewy Body Dementia Diseases of the nervous system 75133
Tongue Cancer Oncology 7577
Follicular Thyroid Cancer Oncology 7481
Adrenocortical Carcinoma Oncology 74202
Granulomatosis with Polyangiitis Diseases of the musculoskeletal system and connective tissue 73158
IgA Nephropathy Diseases of the genitourinary system 73232
Uveitis Diseases of the eye and adnexa 71136
Neurofibromatosis Type I Congenital malformations, deformations and chromosomal abnormalities 71116
Amyloidosis Endocrine, nutritional and metabolic diseases 71126
Down Syndrome Congenital malformations, deformations and chromosomal abnormalities 70108
Prader-Willi Syndrome Congenital malformations, deformations and chromosomal abnormalities 69153
Myotonic Dystrophy Type 1 Diseases of the nervous system 68160
Hidradenitis Suppurativa Diseases of the skin and subcutaneous tissue 68124
Juvenile Dermatomyositis Diseases of the musculoskeletal system and connective tissue 6774
Polymyositis Diseases of the musculoskeletal system and connective tissue 66110
Oligoastrocytoma Oncology 66283
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
Leukemia, Chronic Myelomonocytic Oncology 65216
Kawasaki Disease Diseases of the musculoskeletal system and connective tissue 64112
Vulvar Cancer Oncology 6389
Pompe Disease Endocrine, nutritional and metabolic diseases 63230
Meniere's Disease Diseases of the ear and mastoid process 62101
Myasthenia Gravis Diseases of the nervous system 6187
Acromegaly Endocrine, nutritional and metabolic diseases 61184
Growth Hormone Deficiency Endocrine, nutritional and metabolic diseases 61276
Frontotemporal Dementia Diseases of the nervous system 5888
Merkel Cell Carcinoma Oncology 5872
Multiple System Atrophy Diseases of the nervous system 5795
Progressive Supranuclear Palsy Diseases of the nervous system 5794
Burkitt Lymphoma Oncology 56100
Chronic Fatigue Syndrome Diseases of the nervous system 55128
Lennox-Gastaut Syndrome Diseases of the nervous system 55108
Leiomyosarcoma Oncology 5476
Tourette Syndrome Mental and behavioral disorders 53145
Vitiligo Diseases of the skin and subcutaneous tissue 5267
Pheochromocytoma Oncology 52171
Vitamin D Deficiency Endocrine, nutritional and metabolic diseases 52130
Hemolytic-Uremic Syndrome Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 51132
Ewings Tumor Oncology 51157
Focal Segmental Glomerulosclerosis Diseases of the genitourinary system 51134
Polymyalgia Rheumatica Diseases of the musculoskeletal system and connective tissue 5095
Familial Mediterranean Fever Endocrine, nutritional and metabolic diseases 50152
Wilms Tumor Oncology 4972
Rett Syndrome Mental and behavioral disorders 4966
Dengue Fever Infectious and parasitic diseases 49101
Bile Duct Cancer Oncology 4999
Primary Sclerosing Cholangitis Diseases of the digestive system 49184
Interstitial Lung Disease Diseases of the respiratory system 4989
Facioscapulohumeral Muscular Dystrophy Diseases of the nervous system 4871
Marginal Zone Lymphoma Oncology 4895
Becker's Muscular Dystrophy Diseases of the nervous system 4756
Tuberous Sclerosis Congenital malformations, deformations and chromosomal abnormalities 47133
Juvenile Idiopathic Arthritis Diseases of the musculoskeletal system and connective tissue 4664
Chronic Thromboembolic Pulmonary Hypertension Diseases of the circulatory system 4592
Phenylketonuria Endocrine, nutritional and metabolic diseases 45116
Small Intestine Cancer Oncology 4581
Premature Ovarian Failure Diseases of the genitourinary system 45107
Acute Promyelocytic Leukemia Oncology 4472
Thymoma Oncology 44128
Interstitial Cystitis Diseases of the genitourinary system 44112
Primary Central Nervous System Lymphoma Oncology 4259
Avascular Necrosis Diseases of the musculoskeletal system and connective tissue 42106
Liposarcoma Oncology 4273
Anal Cancer Oncology 4181
Adrenoleukodystrophy Endocrine, nutritional and metabolic diseases 4045
Gaucher Disease, Type 1 Endocrine, nutritional and metabolic diseases 39143
Myeloproliferative Disease Oncology 3946
Congenital Adrenal Hyperplasia Endocrine, nutritional and metabolic diseases 3991
Limb-Girdle Muscular Dystrophy Diseases of the nervous system 3941
Angiosarcoma Oncology 3963
X-linked Hypophosphatemia Endocrine, nutritional and metabolic diseases 3884
Penile Cancer Oncology 3849
Neuroendocrine Tumor, Gastroenteropancreatic Oncology 3852
Niemann-Pick Disease, Type C Endocrine, nutritional and metabolic diseases 3757
Osteomyelitis Diseases of the musculoskeletal system and connective tissue 3748
Fragile X Syndrome Congenital malformations, deformations and chromosomal abnormalities 37104
Keratoconus Diseases of the eye and adnexa 3657
Ependymoma Oncology 3691
Carcinoid Tumor Oncology 34157
Charcot-Marie-Tooth Disease Diseases of the nervous system 3446
Hashimoto's Thyroiditis Endocrine, nutritional and metabolic diseases 3485
Mucopolysaccharidosis, Type IV Endocrine, nutritional and metabolic diseases 3474
Hepatic Encephalopathy Diseases of the digestive system 3499
Friedreich's Ataxia Diseases of the nervous system 3376
Neurofibromatosis Type II Congenital malformations, deformations and chromosomal abnormalities 3343
Chagas Disease Infectious and parasitic diseases 3334
Pyoderma Gangrenosum Diseases of the skin and subcutaneous tissue 3334
Hypoparathyroidism Endocrine, nutritional and metabolic diseases 3367
Gaucher Disease Endocrine, nutritional and metabolic diseases 33147
Medullary Thyroid Cancer Oncology 32105
Bronchopulmonary Dysplasia Diseases of the respiratory system 3154
Inclusion Body Myositis Diseases of the musculoskeletal system and connective tissue 3144
Takayasu's Arteritis Diseases of the musculoskeletal system and connective tissue 3158
Hypersensitivity Pneumonitis Diseases of the respiratory system 3035
Mastocytosis Congenital malformations, deformations and chromosomal abnormalities 3037
Narcolepsy Diseases of the nervous system 3049
Retinoblastoma Oncology 3041
Peripheral T-Cell Lymphoma Oncology 2933
Hemiplegia Diseases of the nervous system 2934
Synovial Sarcoma Oncology 2952
Hepatoblastoma Oncology 2831
Retinitis Pigmentosa Diseases of the eye and adnexa 2853
Idiopathic Interstitial Pneumonia Diseases of the respiratory system 2835
Osteogenesis Imperfecta Congenital malformations, deformations and chromosomal abnormalities 2840
Uterine Sarcoma Oncology 2860
Mucopolysaccharidosis II Endocrine, nutritional and metabolic diseases 2876
Vaginal Cancer Oncology 2736
Thrombotic Thrombocytopenic Purpura Diseases of the musculoskeletal system and connective tissue 2746
Creutzfeldt-Jakob Disease Infectious and parasitic diseases 2756
Infective Endocarditis Diseases of the circulatory system 2651
Short Bowel Syndrome Diseases of the digestive system 2693
Juvenile Myelomonocytic Leukemia Oncology 2641
Myotonic Dystrophy Type 2 Diseases of the nervous system 2637
Pseudomyxoma Peritonei Oncology 2650
Aspergillosis Infectious and parasitic diseases 26120
Hirschsprung Disease Congenital malformations, deformations and chromosomal abnormalities 2536
Fibrosarcoma Oncology 2526
Brugada Syndrome Diseases of the circulatory system 2525
Dravet Syndrome Diseases of the nervous system 2529
Islet Cell Tumors Oncology 24123
Mucopolysaccharidosis I Endocrine, nutritional and metabolic diseases 2457
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
Asperger's Syndrome Mental and behavioral disorders 2346
Myotonic Dystrophy Diseases of the nervous system 2373
Cervical Dystonia Diseases of the nervous system 2358
Visceral Leishmaniasis Infectious and parasitic diseases 23110
Klinefelter Syndrome Congenital malformations, deformations and chromosomal abnormalities 2335
Postural Orthostatic Tachycardia Syndrome Diseases of the nervous system 2236
Retinopathy of Prematurity Diseases of the eye and adnexa 2233
Necrotizing Enterocolitis Certain conditions originating in the perinatal period 2232
Cutaneous Leishmaniasis Infectious and parasitic diseases 2282
Chondrosarcoma Oncology 2226
Myositis Diseases of the musculoskeletal system and connective tissue 2242
Kaposi's Sarcoma Oncology 2260
Adenomyosis Diseases of the genitourinary system 2235
Paroxysmal Nocturnal Hemoglobinuria Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 2161
Ebola Virus Disease Infectious and parasitic diseases 2139
Spinocerebellar Ataxia Type 3 Diseases of the nervous system 2132
Noonan Syndrome Congenital malformations, deformations and chromosomal abnormalities 2154
Neuroendocrine Tumor, Small Intestine Oncology 2123
Hereditary Spastic Paraplegia Diseases of the nervous system 2065
Ampulla of Vater Carcinoma Oncology 2023
Spina Bifida Congenital malformations, deformations and chromosomal abnormalities 2033
Malignant Peripheral Nerve Sheath Tumor Oncology 2024
Ovarian Hyperstimulation Syndrome Diseases of the genitourinary system 1935
Bacterial Meningitis Infectious and parasitic diseases 1939
Atrial Septal Defect Congenital malformations, deformations and chromosomal abnormalities 1926
Pulmonary Arterial Hypertension-Systemic Sclerosis Diseases of the circulatory system 1924
Pneumoconiosis Diseases of the respiratory system 1921
Osteonecrosis Diseases of the musculoskeletal system and connective tissue 1822
Hereditary Haemorrhagic Telangiectasia Diseases of the circulatory system 1849
Corticobasal Degeneration Diseases of the nervous system 1819
Pseudoxanthoma Elasticum Congenital malformations, deformations and chromosomal abnormalities 1833
Chordoma Oncology 1722
Localized Scleroderma Diseases of the skin and subcutaneous tissue 1726
Oral Cancer risk-Leukoplakia Oncology 1735
Central Retinal Vein Occlusion Diseases of the eye and adnexa 1758
Normal Pressure Hydrocephalus Diseases of the nervous system 1721
Central Precocious Puberty Endocrine, nutritional and metabolic diseases 1670
Primary Hyperparathyroidism Endocrine, nutritional and metabolic diseases 1649
Primitive Neuroectodermal Tumor Oncology 1620
AIDS-Related Lymphoma Oncology 1642
Oral Submucous Fibrosis Diseases of the digestive system 1616
Primary Systemic Amyloidosis Endocrine, nutritional and metabolic diseases 1643
Ganglioglioma Oncology 1561
Haemophagocytic Lymphohistiocytosis Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 1539
Leprosy Infectious and parasitic diseases 1516
Leukemia, Acute Megakaryoblastic Oncology 1515
Infant Respiratory Distress Syndrome Certain conditions originating in the perinatal period 1521
Interstitial Lung Disease-Systemic Sclerosis Diseases of the respiratory system 1522
Ornithine Transcarbamylase Deficiency Endocrine, nutritional and metabolic diseases 1543
Chronic Inflammatory Demyelinating Polyneuropathy Diseases of the nervous system 1529
Metachromatic Leukodystrophy Endocrine, nutritional and metabolic diseases 1414
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
Blepharospasm Diseases of the nervous system 1330
Metabolic Syndrome Endocrine, nutritional and metabolic diseases 1318
Extrahepatic Bile Duct Cancer Oncology 1344
Nephropathic Cystinosis Endocrine, nutritional and metabolic diseases 1317
Hypophosphatasia Endocrine, nutritional and metabolic diseases 1326
Ventricular Septal Defect Congenital malformations, deformations and chromosomal abnormalities 1320
Leptospirosis Infectious and parasitic diseases 1325
Amelogenesis Imperfecta Diseases of the digestive system 1313
Optic Neuritis Diseases of the eye and adnexa 1322
Relapsing Polychondritis Diseases of the musculoskeletal system and connective tissue 1314
Coeliac Disease Diseases of the digestive system 1314
Achalasia Diseases of the digestive system 1322
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
Bernard-Soulier Syndrome Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 1212
Kleine-Levin Syndrome Diseases of the nervous system 1212
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
Cerebral Cavernous Malformations Congenital malformations, deformations and chromosomal abnormalities 1221
Eosinophilic Fasciitis Diseases of the musculoskeletal system and connective tissue 1118
Spinal Muscular Atrophy Type II Diseases of the nervous system 1155
IgG4-Related Disease Diseases of the musculoskeletal system and connective tissue 1115
Patent Ductus Arteriosus Congenital malformations, deformations and chromosomal abnormalities 1123
Leber Hereditary Optic Neuropathy Diseases of the eye and adnexa 1117
Pilocytic Astrocytoma Oncology 1112
Night Blindness Diseases of the eye and adnexa 1123
Interstitial Lung Disease-Rheumatoid Arthritis Diseases of the respiratory system 1113
Myeloproliferative Disorders, Chronic Oncology 1124
Angioimmunoblastic T-Cell Lymphoma Oncology 1111
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
Pigmented Villonodular Synovitis Diseases of the musculoskeletal system and connective tissue 1122
Polycystic Kidney, Autosomal Recessive Congenital malformations, deformations and chromosomal abnormalities 1111
Osteopetrosis Congenital malformations, deformations and chromosomal abnormalities 1127
Encephalitis Infectious and parasitic diseases 1015
Homocystinuria Endocrine, nutritional and metabolic diseases 1021
Alkaptonuria Endocrine, nutritional and metabolic diseases 1021
Melioidosis Infectious and parasitic diseases 1010
Congenital Diaphragmatic Hernia Congenital malformations, deformations and chromosomal abnormalities 1016
Natural Killer T Cell Lymphoma Oncology 1011
Schistosomiasis Infectious and parasitic diseases 1037
Kallmann Syndrome Endocrine, nutritional and metabolic diseases 1010
Achondroplasia Congenital malformations, deformations and chromosomal abnormalities 1016
Hydrocephalus Diseases of the nervous system 1026
Oculopharyngeal Muscular Dystrophy Diseases of the nervous system 1010
Spinocerebellar Ataxia Type 2 Diseases of the nervous system 1010
Gestational Trophoblastic Tumor Oncology 911
Generalized Pustular Psoriasis Diseases of the skin and subcutaneous tissue 99
Primary Hypertrophic Osteoarthropathy Diseases of the musculoskeletal system and connective tissue 99
Myocarditis Diseases of the circulatory system 917
Dyskeratosis Congenita Congenital malformations, deformations and chromosomal abnormalities 916
Cold Urticaria Diseases of the skin and subcutaneous tissue 99
Idiopathic Membranous Nephropathy Diseases of the genitourinary system 914
Lesch-Nyhan Syndrome Endocrine, nutritional and metabolic diseases 910
Lymphoblastic Lymphoma Oncology 910
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
Hypereosinophilic Syndrome Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 920
Pseudohypoparathyroidism Endocrine, nutritional and metabolic diseases 99
Erythema Multiforme Diseases of the skin and subcutaneous tissue 99
Glossodynia Diseases of the digestive system 912
Ehlers-Danlos Syndrome Congenital malformations, deformations and chromosomal abnormalities 910
Fibrous Dysplasia Diseases of the musculoskeletal system and connective tissue 917
Stargardt Disease Diseases of the eye and adnexa 911
Myasthenia Gravis-Thymoma Diseases of the nervous system 99
Mucopolysaccharidosis III Endocrine, nutritional and metabolic diseases 922
Pulmonary Arterial Hypertension-Systemic Lupus Erythematosus Diseases of the circulatory system 99
de Quervain Syndrome Diseases of the musculoskeletal system and connective tissue 933
Interstitial Lung Disease-Common Variable Immunodeficiency Diseases of the respiratory system 99
Alexander Disease Endocrine, nutritional and metabolic diseases 99
Hermansky-Pudlak Syndrome Endocrine, nutritional and metabolic diseases 820
Angelman Syndrome Congenital malformations, deformations and chromosomal abnormalities 822
Alopecia Totalis Diseases of the skin and subcutaneous tissue 89
Leber's Congenital Amaurosis Diseases of the eye and adnexa 812
Lichen Sclerosus Diseases of the skin and subcutaneous tissue 88
Niemann-Pick Disease, Type A Endocrine, nutritional and metabolic diseases 88
Lyme Disease Infectious and parasitic diseases 88
Alport Syndrome Congenital malformations, deformations and chromosomal abnormalities 829
Tetralogy of Fallot Congenital malformations, deformations and chromosomal abnormalities 816
Polyarteritis Nodosa Diseases of the musculoskeletal system and connective tissue 825
Fibrodysplasia Ossificans Progressiva Diseases of the musculoskeletal system and connective tissue 811
Myotonia Congenita Diseases of the nervous system 89
Fetal Alcohol Syndrome Congenital malformations, deformations and chromosomal abnormalities 88
Shwachman-Diamond Syndrome Congenital malformations, deformations and chromosomal abnormalities 88
Obliterative Bronchiolitis Diseases of the respiratory system 88
Leigh Disease Diseases of the nervous system 88
Anterior Ischemic Optic Neuropathy Diseases of the eye and adnexa 89
Trichotillomania Mental and behavioral disorders 812
Diamond-Blackfan Anemia Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 817
Familial Dysautonomia Diseases of the nervous system 810
Idiopathic Basal Ganglia Calcification Diseases of the nervous system 88
Keshan Disease Endocrine, nutritional and metabolic diseases 88
Alopecia Universalis Diseases of the skin and subcutaneous tissue 89
Alpha-1-Antitrypsin Deficiency Endocrine, nutritional and metabolic diseases 818
Propionic Acidemia Endocrine, nutritional and metabolic diseases 811
Menkes Disease Endocrine, nutritional and metabolic diseases 821
Benign Intracranial Hypertension Diseases of the nervous system 813
Thrombotic Thrombocytopenic Purpura-Systemic Lupus Erythematosus Diseases of the musculoskeletal system and connective tissue 810
Fibromyalgia-Rheumatoid Arthritis Diseases of the musculoskeletal system and connective tissue 810
Achromatopsia Diseases of the eye and adnexa 77
Pulmonary Arterial Hypertension-Congenital Heart Disease Diseases of the circulatory system 77
Machado-Joseph Disease Diseases of the nervous system 77
Meconium Aspiration Syndrome Certain conditions originating in the perinatal period 77
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
Burning Mouth Syndrome Diseases of the digestive system 78
Wolfram Syndrome Endocrine, nutritional and metabolic diseases 77
Acute Intermittent Porphyria Endocrine, nutritional and metabolic diseases 79
Craniosynostosis Congenital malformations, deformations and chromosomal abnormalities 717
Castleman's Disease Oncology 714
Precocious Puberty Endocrine, nutritional and metabolic diseases 632
Barth Syndrome Endocrine, nutritional and metabolic diseases 66
Pure Autonomic Failure Diseases of the nervous system 611
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
Phelan-McDermid Syndrome Congenital malformations, deformations and chromosomal abnormalities 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
Tuberculous Meningitis Infectious and parasitic diseases 66
Medulloblastoma, Childhood Oncology 613
Progressive Multifocal Leukoencephalopathy Infectious and parasitic diseases 66
Brucellosis Infectious and parasitic diseases 614
Bartter Syndrome Endocrine, nutritional and metabolic diseases 619
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
Crimean-Congo Hemorrhagic Fever Infectious and parasitic diseases 55
Embryonal Carcinoma Oncology 57
Congenital Hypopituitarism Congenital malformations, deformations and chromosomal abnormalities 55
Pineoblastoma Oncology 55
Progeria Endocrine, nutritional and metabolic diseases 57
Carcinoid Syndrome Endocrine, nutritional and metabolic diseases 515
Spinal and Bulbar Muscular Atrophy Diseases of the nervous system 514
Lafora Disease Diseases of the nervous system 55
Schopf-Schulz-Passarge Syndrome Congenital malformations, deformations and chromosomal abnormalities 55
Sitosterolemia Endocrine, nutritional and metabolic diseases 57
Osgood Schlatter Disease Diseases of the musculoskeletal system and connective tissue 55
Spinocerebellar Ataxia Diseases of the nervous system 55
Langerhans Cell Histiocytosis Oncology 511
Batten Disease Endocrine, nutritional and metabolic diseases 56
Centronuclear Myopathy Diseases of the nervous system 55
Sandhoff Disease Endocrine, nutritional and metabolic diseases 55
Cluster Headache Diseases of the nervous system 55
Filariasis Infectious and parasitic diseases 58
Chronic Graft Versus Host Disease Injury, poisoning and certain other consequences of external causes 55
West Syndrome Diseases of the nervous system 55
Leukemia, Acute Erythroid Oncology 55
Gaucher Disease, Type 3 Endocrine, nutritional and metabolic diseases 58
Cleft Lip-Cleft Palate Congenital malformations, deformations and chromosomal abnormalities 55
Fibromyalgia-Hashimoto's Thyroiditis Diseases of the musculoskeletal system and connective tissue 59
Anal Fistula Diseases of the digestive system 56
Recurrent Respiratory Papillomatosis Diseases of the respiratory system 517
Moyamoya Disease Diseases of the circulatory system 55
Status Epilepticus Diseases of the nervous system 56
Choroideremia Diseases of the eye and adnexa 56
Krabbe Disease Endocrine, nutritional and metabolic diseases 44
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
Methylmalonic Acidemia Endocrine, nutritional and metabolic diseases 48
Pulmonary Anthrax Infectious and parasitic diseases 44
Familial Hypobetalipoproteinemia Endocrine, nutritional and metabolic diseases 45
Mucolipidosis Type III Endocrine, nutritional and metabolic diseases 44
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
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
Cholesteatoma Diseases of the ear and mastoid process 45
Spinocerebellar Ataxia Type 7 Diseases of the nervous system 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
Atypical Teratoid Rhabdoid Tumor Oncology 44
Usher Syndrome Diseases of the eye and adnexa 44
Toxic Epidermal Necrolysis Diseases of the skin and subcutaneous tissue 44
Crigler-Najjar Syndrome Endocrine, nutritional and metabolic diseases 46
Arrhythmogenic Right Ventricular Dysplasia Diseases of the circulatory system 46
Brain Tumor, Childhood Oncology 49
Von Hippel-lindau Syndrome Congenital malformations, deformations and chromosomal abnormalities 36
Congenital Central Hypoventilation Syndrome Diseases of the nervous system 33
Congenital Hypothyroidism Endocrine, nutritional and metabolic diseases 313
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
Spinocerebellar Ataxia Type 36 Diseases of the nervous system 33
Blastomycosis Infectious and parasitic diseases 33
Primary Lateral Sclerosis Diseases of the nervous system 35
Pyruvate Dehydrogenase Deficiency Endocrine, nutritional and metabolic diseases 33
Multiple Endocrine Neoplasia 1 and 2 Oncology 317
Cleidocranial Dysostosis Congenital malformations, deformations and chromosomal abnormalities 34
Ganglioneuroblastoma Oncology 34
Porphyria Cutanea Tarda Endocrine, nutritional and metabolic diseases 324
Dermatofibrosarcoma Protuberans Oncology 33
Leukodystrophy Endocrine, nutritional and metabolic diseases 33
CINCA Syndrome Endocrine, nutritional and metabolic diseases 34
Uveitis-Juvenile Rheumatoid Arthritis Diseases of the eye and adnexa 33
Non-24-Hour Sleep-Wake Disorder Diseases of the nervous system 36
Paramyotonia Congenita Diseases of the nervous system 33
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
Primary Hyperoxaluria Endocrine, nutritional and metabolic diseases 312
Cryptogenic Organizing Pneumonia Diseases of the respiratory system 33
Budd-Chiari Syndrome Diseases of the circulatory system 33
Myoepithelial Carcinoma Oncology 33
Hyperlipoproteinemia, Type I Endocrine, nutritional and metabolic diseases 33
Subacute Cutaneous Lupus Erythematosus Diseases of the skin and subcutaneous tissue 37
Depersonalization Disorder Mental and behavioral disorders 34
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
Spasmodic Torticollis Diseases of the nervous system 315
Adrenal Cancer Oncology 36
Hepatorenal Syndrome Diseases of the digestive system 36
Netherton Syndrome Congenital malformations, deformations and chromosomal abnormalities 33
Cardiomyopathy-Amyloidosis Diseases of the circulatory system 33
Gitelman Syndrome Diseases of the genitourinary system 33
Andersen-Tawil Syndrome Diseases of the circulatory system 33
Esophageal Atresia Congenital malformations, deformations and chromosomal abnormalities 37
Orotic aciduria Endocrine, nutritional and metabolic diseases 33
Erdheim-Chester Disease Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 35
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
Gliosarcoma Oncology 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
Joubert Syndrome Congenital malformations, deformations and chromosomal abnormalities 23
Xeroderma Pigmentosum Congenital malformations, deformations and chromosomal abnormalities 26
Mucolipidosis Type IV Endocrine, nutritional and metabolic diseases 29
Takotsubo Cardiomyopathy Diseases of the circulatory system 22
Systemic Vasculitis Diseases of the musculoskeletal system and connective tissue 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
Typhoid Fever Infectious and parasitic diseases 213
Eisenmenger Syndrome Congenital malformations, deformations and chromosomal abnormalities 22
Acanthosis Nigricans-Polycystic Ovarian Syndrome Diseases of the skin and subcutaneous tissue 22
Hypodontia Diseases of the digestive system 22
Pneumococcal Meningitis Diseases of the nervous system 23
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
Cone Dystrophy Diseases of the ear and mastoid process 22
Kleefstra Syndrome Congenital malformations, deformations and chromosomal abnormalities 22
Palmoplantar Keratoderma Diseases of the skin and subcutaneous tissue 22
Non-Hodgkin lymphoma Risk-Sicca Syndrome (Sjogren) Oncology 22
Hypertrichosis Congenital malformations, deformations and chromosomal abnormalities 26
TNF receptor Associated Periodic Syndrome Endocrine, nutritional and metabolic diseases 22
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
Adams-Oliver Syndrome Congenital malformations, deformations and chromosomal abnormalities 13
Hereditary Coproporphyria Endocrine, nutritional and metabolic diseases 11
Dubin-Johnson Syndrome Endocrine, nutritional and metabolic diseases 11
Variegate Porphyria Endocrine, nutritional and metabolic diseases 11
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Diseases of the nervous system 11
Wegener's Granulomatosis Diseases of the musculoskeletal system and connective tissue 11
Rabson-Mendenhall Syndrome Endocrine, nutritional and metabolic diseases 17
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
3-M Syndrome Congenital malformations, deformations and chromosomal abnormalities 11
Cutis Laxa 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
Hepatic Veno-Occlusive Disease Diseases of the digestive system 19
Cerebrotendineous Xanthomatosis Endocrine, nutritional and metabolic diseases 11
Yunis-Varon Syndrome Congenital malformations, deformations and chromosomal abnormalities 13
Marinesco-Sjogren Syndrome Diseases of the nervous system 11
KID Syndrome Congenital malformations, deformations and chromosomal abnormalities 11
Teratoma Oncology 11
Microcephaly Congenital malformations, deformations and chromosomal abnormalities 11
Glomus Tumor Oncology 11
Polymyositis-Interstitial Lung Disease Diseases of the musculoskeletal system and connective tissue 11
Asbestosis Diseases of the respiratory system 11
Langer Mesomelic Dysplasia Congenital malformations, deformations and chromosomal abnormalities 11
Mucolipidosis Type I Endocrine, nutritional and metabolic diseases 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
Eosinophilic Colitis Diseases of the digestive system 11
Peutz-Jeghers Syndrome Congenital malformations, deformations and chromosomal abnormalities 14
Pouchitis Diseases of the digestive system 11
Freeman-Sheldon Syndrome Congenital malformations, deformations and chromosomal abnormalities 11
Germ Cell Tumor, Extragonadal Oncology 11
Cystinosis Endocrine, nutritional and metabolic diseases 11
Pendred Syndrome Endocrine, nutritional and metabolic diseases 11
Oculotrichoanal Syndrome Congenital malformations, deformations and chromosomal abnormalities 11
Hemophagocytic Syndrome-Adult Onset Still's Disease Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 11
Dermatofibroma Oncology 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
Hepatosplenic T-cell Lymphoma Oncology 11
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
Wolff-Hirschorn Syndrome Congenital malformations, deformations and chromosomal abnormalities 13
Metaphyseal Dysplasia Congenital malformations, deformations and chromosomal abnormalities 11
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
Microcytic Anemia 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
Enteropathy-associated T-cell Lymphoma Oncology 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
Endophthalmitis Diseases of the eye and adnexa 11
Kasabach-Merritt Syndrome Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism 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
Total : 33302 86101