| 1 | Anemia, Diamond-Blackfan | 44.9% |
| 2 | Werner Syndrome | 25.4% |
| 3 | Disseminated Intravascular Coagulation | 21.1% |
| 4 | Protein S Deficiency | 21.1% |
| 5 | Thrombasthenia | 20.9% |
| 6 | Antithrombin III Deficiency | 20.9% |
| 7 | Protein C Deficiency | 20.9% |
| 8 | Anemia, Sickle Cell | 20% |
| 9 | Thalassemia | 20% |
| 10 | Thrombocythemia, Essential | 20% |
| 11 | Bone Marrow Neoplasms | 18.8% |
| 12 | Cockayne Syndrome | 18.4% |
| 13 | Afibrinogenemia | 18.4% |
| 14 | Factor VII Deficiency | 18.4% |
| 15 | Factor X Deficiency | 18.4% |
| 16 | Factor XII Deficiency | 18.4% |
| 17 | Hemophilia A | 18.4% |
| 18 | Activated Protein C Resistance | 18.4% |
| 19 | Factor II deficiency | 18.4% |
| 20 | Factor VIII Deficiency | 18.4% |
| 21 | Factor V deficiency | 18.4% |
| 22 | Factor XI Deficiency | 18.4% |
| 23 | Hypoprothrombinemias | 18.4% |
| 24 | Pelger-Huet Anomaly | 18.2% |
| 25 | Blood Coagulation Disorders | 17.9% |
| 26 | Blood Platelet Disorders | 17.9% |
| 27 | Hemorrhagic Disorders | 17.9% |
| 28 | Leukocyte Disorders | 17.9% |
| 29 | Methemoglobinemia | 17.9% |
| 30 | Pancytopenia | 17.9% |
| 31 | Polycythemia | 17.9% |
| 32 | Sulfhemoglobinemia | 17.9% |
| 33 | Thrombophilia | 17.9% |
| 34 | Erythrocytosis | 17.9% |
| 35 | Wiskott-Aldrich Syndrome | 17.7% |
| 36 | Bloom Syndrome | 17.5% |
| 37 | Anemia, Neonatal | 17.1% |
| 38 | Anemia, Hemolytic | 16.3% |
| 39 | Anemia, Macrocytic | 16.3% |
| 40 | MYELODYSPLASTIC SYNDROME | 16.3% |
| 41 | Thrombocytosis | 16.3% |
| 42 | Hemoglobinuria, Paroxysmal | 16.2% |
| 43 | Smith-Lemli-Opitz Syndrome | 15.9% |
| 44 | Leigh Disease | 15.9% |
| 45 | Polycythemia Vera | 15.8% |
| 46 | Transfusion Reaction | 15.4% |
| 47 | Hypotensive Transfusion Reaction | 15.4% |
| 48 | Pseudohypoparathyroidism | 15.3% |
| 49 | Vitamin K Deficiency | 15.2% |
| 50 | Pregnancy Complications, Hematologic | 15.1% |
| 51 | Hematologic Neoplasms | 15.1% |
| 52 | Brain Diseases, Metabolic, Inborn | 14.8% |
| 53 | Menkes Kinky Hair Syndrome | 14.5% |
| 54 | Galactosemias | 14.5% |
| 55 | Urea Cycle Disorders, Inborn | 14.5% |
| 56 | Tyrosinemias | 14.5% |
| 57 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 14.5% |
| 58 | Glycogen storage disease type II | 14% |
| 59 | Sickle Cell Trait | 13.9% |
| 60 | Ataxia Telangiectasia | 13.9% |
| 61 | Adrenoleukodystrophy | 13.8% |
| 62 | Wasting Syndrome | 13.4% |
| 63 | Gaucher Disease | 13.4% |
| 64 | Fabry Disease | 13.3% |
| 65 | Amyloid Neuropathies, Familial | 13.3% |
| 66 | Hyperphosphaturia | 13.2% |
| 67 | Amino Acid Metabolism, Inborn Errors | 13.1% |
| 68 | Carbohydrate Metabolism, Inborn Errors | 13.1% |
| 69 | Hypercalcemia | 13.1% |
| 70 | Hypocalcemia | 13.1% |
| 71 | Metal Metabolism, Inborn Errors | 13.1% |
| 72 | Milk-Alkali Syndrome | 13.1% |
| 73 | Progeria | 13.1% |
| 74 | Lysosomal Storage Diseases | 13.1% |
| 75 | Cytochrome-c Oxidase Deficiency | 13.1% |
| 76 | Peroxisomal Disorders | 13.1% |
| 77 | Hyperhomocysteinemia | 13.1% |
| 78 | Neuronal Ceroid-Lipofuscinoses | 13% |
| 79 | Leukemoid Reaction | 13% |
| 80 | Mucopolysaccharidosis II | 12.9% |
| 81 | Hyperlipoproteinemia Type IV | 12.7% |
| 82 | Hyperlipoproteinemia Type V | 12.7% |
| 83 | Albinism | 12.6% |
| 84 | Hypolipoproteinemias | 12.5% |
| 85 | Hepatolenticular Degeneration | 12.4% |
| 86 | Homocystinuria | 12.4% |
| 87 | Familial Hypophosphatemic Rickets | 12.4% |
| 88 | Ichthyosis, X-Linked | 12.3% |
| 89 | Refsum Disease | 12.3% |
| 90 | Lactose Intolerance | 12.2% |
| 91 | Xeroderma Pigmentosum | 12.2% |
| 92 | Tay-Sachs Disease | 12.1% |
| 93 | Niemann-Pick Disease, Type C | 12.1% |
| 94 | Acid-Base Imbalance | 11.9% |
| 95 | Calcium Metabolism Disorders | 11.9% |
| 96 | Iron Metabolism Disorders | 11.9% |
| 97 | Phosphorus Metabolism Disorders | 11.9% |
| 98 | Water-Electrolyte Imbalance | 11.9% |
| 99 | Lipid Metabolism Disorders | 11.9% |
| 100 | Mitochondrial Diseases | 11.9% |
| 101 | Glucose Metabolism Disorders | 11.9% |
| 102 | Hyperlipidemia, Familial Combined | 11.8% |
| 103 | Lymphatic Diseases | 11.6% |
| 104 | Zellweger Syndrome | 11.4% |
| 105 | Hyperlipoproteinemia Type III | 11.4% |
| 106 | Acute Chest Syndrome | 11.4% |
| 107 | Lipodystrophy | 11.3% |
| 108 | Aicardi's syndrome | 11% |
| 109 | Fragile X Syndrome | 10.8% |
| 110 | Sjogren-Larsson Syndrome | 10.7% |
| 111 | Rickets | 10.7% |
| 112 | Mucopolysaccharidosis III | 10.7% |
| 113 | CHARGE Syndrome | 10.4% |
| 114 | Hypoalphalipoproteinemias | 10.3% |
| 115 | Neoplastic Syndromes, Hereditary | 10.3% |
| 116 | Kernicterus | 10.3% |
| 117 | Cystic Fibrosis | 10.2% |
| 118 | Osteopenia | 10.1% |
| 119 | Porphyrias, Hepatic | 10% |
| 120 | Congenital Hyperinsulinism | 10% |
| 121 | Brain Diseases, Metabolic | 9.9% |
| 122 | Multiple Epiphyseal Dysplasia | 9.9% |
| 123 | Osteochondrodysplasias | 9.9% |
| 124 | Myasthenic Syndromes, Congenital | 9.9% |
| 125 | Chronic granulomatous disease | 9.8% |
| 126 | Eosinophilia | 9.8% |
| 127 | Hypoproteinemia | 9.8% |
| 128 | Leukopenia | 9.8% |
| 129 | Thrombocytopenia | 9.8% |
| 130 | Leukostasis | 9.8% |
| 131 | Muscular Dystrophy, Duchenne | 9.8% |
| 132 | Primary Myelofibrosis | 9.7% |
| 133 | Anemia, Megaloblastic | 9.7% |
| 134 | Myelofibrosis | 9.7% |
| 135 | Myeloid Metaplasia | 9.7% |
| 136 | bone marrow fibrosis | 9.7% |
| 137 | Alkaptonuria | 9.7% |
| 138 | Glycogen Storage Disease | 9.7% |
| 139 | Hypophosphatasia | 9.7% |
| 140 | Propionic acidemia | 9.7% |
| 141 | Dihydropyrimidine Dehydrogenase Deficiency | 9.7% |
| 142 | Cystinosis | 9.7% |
| 143 | Hydrops Fetalis | 9.7% |
| 144 | Renal tubular acidosis | 9.7% |
| 145 | Autoimmune Lymphoproliferative Syndrome | 9.6% |
| 146 | Agammaglobulinemia | 9.5% |
| 147 | Beckwith-Wiedemann Syndrome | 9.4% |
| 148 | Wolf-Hirschhorn Syndrome | 9.4% |
| 149 | Canavan Disease | 9.3% |
| 150 | Alexander Disease | 9.3% |
| 151 | Nail-Patella Syndrome | 9.2% |
| 152 | Purpura, Thrombotic Thrombocytopenic | 9.1% |
| 153 | Alstrom Syndrome | 9% |
| 154 | Anemia | 8.9% |
| 155 | Bone Marrow Diseases | 8.9% |
| 156 | Optic Atrophy, Hereditary, Leber | 8.9% |
| 157 | Dwarfism | 8.8% |
| 158 | MELAS Syndrome | 8.5% |
| 159 | Muscular Dystrophy | 8.5% |
| 160 | Osteogenesis Imperfecta | 8.5% |
| 161 | Hemolytic-Uremic Syndrome | 8.5% |
| 162 | Lymphatic Abnormalities | 8.4% |
| 163 | Prader-Willi Syndrome | 8.4% |
| 164 | Rett Syndrome | 8.3% |
| 165 | Smith-Magenis syndrome | 8.3% |
| 166 | Leukocytosis | 8.3% |
| 167 | Paraproteinemias | 8.3% |
| 168 | Pleocytosis | 8.3% |
| 169 | Cri-du-Chat Syndrome | 8.2% |
| 170 | Down Syndrome | 8.2% |
| 171 | Infectious Mononucleosis | 8.2% |
| 172 | Trisomy 21 | 8.2% |
| 173 | Osteomalacia | 8.1% |
| 174 | Leukemia, Myelomonocytic, Chronic | 8.1% |
| 175 | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | 8.1% |
| 176 | Kartagener Syndrome | 8.1% |
| 177 | Glycogen Storage Disease Type I | 8.1% |
| 178 | Glycogen Storage Disease Type V | 8.1% |
| 179 | Glycosuria, Renal | 7.9% |
| 180 | Acidosis | 7.8% |
| 181 | Alkalosis | 7.8% |
| 182 | Amyloidosis | 7.8% |
| 183 | Calcinosis | 7.8% |
| 184 | Hyperglycemia | 7.8% |
| 185 | Hyperinsulinism | 7.8% |
| 186 | Hyperkalemia | 7.8% |
| 187 | Hypernatremia | 7.8% |
| 188 | Hypoglycemia | 7.8% |
| 189 | Hypokalemia | 7.8% |
| 190 | Hyponatremia | 7.8% |
| 191 | Familial Mediterranean Fever | 7.8% |
| 192 | Xanthomatosis | 7.8% |
| 193 | Hypophosphatemia | 7.8% |
| 194 | Metabolic acidosis | 7.8% |
| 195 | Dyslipidemias | 7.8% |
| 196 | Iron Overload | 7.8% |
| 197 | Xanthoma | 7.8% |
| 198 | Holoprosencephaly | 7.8% |
| 199 | Nesidioblastosis | 7.7% |
| 200 | Diabetic Ketoacidosis | 7.7% |
| 201 | Mitochondrial Encephalomyopathies | 7.6% |
| 202 | Autoimmune thrombocytopenia | 7.6% |
| 203 | Immune thrombocytopenic purpura | 7.6% |
| 204 | Marfan Syndrome | 7.6% |
| 205 | Friedreich Ataxia | 7.6% |
| 206 | Antley-Bixler Syndrome Phenotype | 7.6% |
| 207 | Waldenstrom Macroglobulinemia | 7.5% |
| 208 | Pseudoxanthoma Elasticum | 7.5% |
| 209 | Familial Periodic Paralysis | 7.4% |
| 210 | Angioedemas, Hereditary | 7.4% |
| 211 | Cryoglobulinemia | 7.3% |
| 212 | Monoclonal Gammopathy of Undetermined Significance | 7.3% |
| 213 | Ectodermal Dysplasia | 7.3% |
| 214 | Aplasia Cutis Congenita | 7.3% |
| 215 | Variegate Porphyria | 7.3% |
| 216 | Acute intermittent porphyria | 7.3% |
| 217 | Porphyria Cutanea Tarda | 7.3% |
| 218 | Renal Aminoacidurias | 7.3% |
| 219 | Fanconi Syndrome | 7.3% |
| 220 | Pseudohypoaldosteronism | 7.3% |
| 221 | Liddle Syndrome | 7.3% |
| 222 | Hypergammaglobulinemia | 7.2% |
| 223 | Myotonic Dystrophy | 7.1% |
| 224 | Transfusion-Related Acute Lung Injury | 7.1% |
| 225 | Ecchymosis | 7% |
| 226 | Petechiae | 7% |
| 227 | Purpura | 7% |
| 228 | Rubinstein-Taybi Syndrome | 6.8% |
| 229 | Tuberous Sclerosis | 6.8% |
| 230 | Deformity | 6.8% |
| 231 | Nutrition Disorders | 6.8% |
| 232 | Diabetes Mellitus | 6.8% |
| 233 | Kallmann Syndrome | 6.7% |
| 234 | Dehydration | 6.6% |
| 235 | Lipomatosis | 6.6% |
| 236 | Water Intoxication | 6.6% |
| 237 | Gout | 6.6% |
| 238 | Lymphangiectasis, Intestinal | 6.6% |
| 239 | Achlorhydria | 6.6% |
| 240 | Osteoporosis | 6.6% |
| 241 | Bone Demineralization, Pathologic | 6.6% |
| 242 | Post-Traumatic Osteoporosis | 6.6% |
| 243 | Heavy Chain Disease | 6.5% |
| 244 | Celiac Disease | 6.5% |
| 245 | Sprue, Tropical | 6.5% |
| 246 | Steatorrhea | 6.5% |
| 247 | Sprue | 6.5% |
| 248 | Polycystic Kidney Diseases | 6.5% |
| 249 | Williams Syndrome | 6.5% |
| 250 | Anemia, Pernicious | 6.5% |
| 251 | Purpura, Hyperglobulinemic | 6.5% |
| 252 | Primary Ciliary Dyskinesia | 6.5% |
| 253 | Hypokalemic periodic paralysis | 6.1% |
| 254 | Cystinuria | 6% |
| 255 | Retinal Dysplasia | 6% |
| 256 | Waterhouse-Friderichsen Syndrome | 6% |
| 257 | Adenitis | 6% |
| 258 | Histiocytosis | 6% |
| 259 | Lymphadenitis | 6% |
| 260 | Lymphangitis | 6% |
| 261 | Lymphedema | 6% |
| 262 | Splenic Diseases | 6% |
| 263 | Thymus Hyperplasia | 6% |
| 264 | Pseudolymphoma | 6% |
| 265 | Lymphadenopathy | 6% |
| 266 | Aniridia | 5.9% |
| 267 | Renal Osteodystrophy | 5.9% |
| 268 | Renal rickets | 5.9% |
| 269 | Multiple Myeloma | 5.9% |
| 270 | Epidermolysis Bullosa | 5.9% |
| 271 | Acidosis, Lactic | 5.8% |
| 272 | Agranulocytosis | 5.8% |
| 273 | Calciphylaxis | 5.8% |
| 274 | Hemosiderosis | 5.8% |
| 275 | Ketosis | 5.8% |
| 276 | Lymphocytosis | 5.8% |
| 277 | Ketonuria | 5.8% |
| 278 | Ketoacidosis | 5.8% |
| 279 | Ketonemia | 5.8% |
| 280 | Hypoalbuminemia | 5.8% |
| 281 | Vascular calcification | 5.8% |
| 282 | Hypereosinophilic syndrome | 5.8% |
| 283 | Thrombotic Microangiopathies | 5.8% |
| 284 | HIV-Associated Lipodystrophy Syndrome | 5.8% |
| 285 | Atypical Hemolytic Uremic Syndrome | 5.8% |
| 286 | HIV Wasting Syndrome | 5.8% |
| 287 | Fetal Diseases | 5.7% |
| 288 | Cutis Laxa | 5.7% |
| 289 | Mitochondrial Myopathies | 5.7% |
| 290 | Retinitis Pigmentosa | 5.7% |
| 291 | Myelinolysis, Central Pontine | 5.7% |
| 292 | Pigmentary retinopathy | 5.7% |
| 293 | Porokeratosis | 5.6% |
| 294 | Keratoderma, Palmoplantar | 5.6% |
| 295 | Glycosuria | 5.6% |
| 296 | Reye Syndrome | 5.6% |
| 297 | Hepatic Encephalopathy | 5.6% |
| 298 | Welander Distal Myopathy | 5.6% |
| 299 | Thrombocytopenic purpura | 5.5% |
| 300 | Arthritis, Gouty | 5.4% |
| 301 | Leukemia, Myeloid, Chronic-Phase | 5.4% |
| 302 | POEMS Syndrome | 5.3% |
| 303 | Scurvy | 5.2% |
| 304 | Wernicke Encephalopathy | 5.1% |
| 305 | Lymphocele | 5% |
| 306 | Lymphoproliferative Disorders | 5% |
| 307 | Duane Retraction Syndrome | 5% |
| 308 | Thymus Neoplasms | 5% |
| 309 | Lymphopenia | 4.9% |
| 310 | Peutz-Jeghers Syndrome | 4.9% |
| 311 | Myotonia Congenita | 4.9% |
| 312 | Necrobiosis Lipoidica Diabeticorum | 4.9% |
| 313 | Classical Lissencephalies and Subcortical Band Heterotopias | 4.9% |
| 314 | Dystonia Musculorum Deformans | 4.9% |
| 315 | Acidosis, Respiratory | 4.9% |
| 316 | Adiposis Dolorosa | 4.9% |
| 317 | Alkalosis, Respiratory | 4.9% |
| 318 | Job Syndrome | 4.9% |
| 319 | Insulin Resistance | 4.9% |
| 320 | Osteoporosis, Postmenopausal | 4.9% |
| 321 | Lafora Disease | 4.9% |
| 322 | Unverricht-Lundborg Syndrome | 4.9% |
| 323 | Hypercholesterolemia | 4.9% |
| 324 | Hyperlipoproteinemias | 4.9% |
| 325 | Hypertriglyceridemia | 4.9% |
| 326 | Polycystic Kidney, Autosomal Dominant | 4.8% |
| 327 | Hyperkeratosis, Epidermolytic | 4.7% |
| 328 | Meconium Aspiration Syndrome | 4.5% |
| 329 | Multiple Endocrine Neoplasia | 4.5% |
| 330 | Kearns-Sayre syndrome | 4.5% |
| 331 | Congenital Hypothyroidism | 4.4% |
| 332 | Dermatitis, Atopic | 4.4% |
| 333 | Eosinophilic Granuloma | 4.4% |
| 334 | Charcot-Marie-Tooth Disease | 4.3% |
| 335 | Gestational Diabetes | 4.3% |
| 336 | Latent Autoimmune Diabetes in Adults | 4.3% |
| 337 | Mucocutaneous Lymph Node Syndrome | 4.3% |
| 338 | Diabetes Mellitus, Experimental | 4.2% |
| 339 | Eosinophilia-Myalgia Syndrome | 4.2% |
| 340 | Shwartzman Phenomenon | 4.2% |
| 341 | Hemangioma, Cavernous | 4.2% |
| 342 | Nephrocalcinosis | 4.2% |
| 343 | Tetany | 4.2% |
| 344 | Papillon-Lefevre Disease | 4.2% |
| 345 | Purpura Fulminans | 4.2% |
| 346 | Xeroderma | 4.1% |
| 347 | Mobius Syndrome | 4.1% |
| 348 | Cerebral Amyloid Angiopathy | 4.1% |
| 349 | Basal Cell Nevus Syndrome | 4% |
| 350 | Abdominal Cramps | 4% |
| 351 | Abnormalities, Drug-Induced | 4% |
| 352 | Amniotic Band Syndrome | 4% |
| 353 | Asphyxia Neonatorum | 4% |
| 354 | Child Nutrition Disorders | 4% |
| 355 | Hypervitaminosis A | 4% |
| 356 | Infant Nutrition Disorders | 4% |
| 357 | Infant, Premature, Diseases | 4% |
| 358 | Situs Inversus | 4% |
| 359 | Malnutrition | 4% |
| 360 | Infantile Colic | 4% |
| 361 | Behcet Syndrome | 4% |
| 362 | Neutropenia | 3.9% |
| 363 | Primary amyloidosis | 3.7% |
| 364 | Klinefelter Syndrome | 3.7% |
| 365 | Huntington Disease | 3.6% |
| 366 | Eye Abnormalities | 3.4% |
| 367 | Cardiovascular Abnormalities | 3.4% |
| 368 | Turner Syndrome | 3.4% |
| 369 | Skin Abnormalities | 3.4% |
| 370 | Congenital Microtia | 3.4% |
| 371 | Persistent Fetal Circulation Syndrome | 3.3% |
| 372 | Congenital diaphragmatic hernia | 3.3% |
| 373 | Umbilical hernia | 3.3% |
| 374 | Pulmonary Eosinophilia | 3.3% |
| 375 | Eosinophilic Pneumonia | 3.3% |
| 376 | Amyotrophic Lateral Sclerosis | 3.3% |
| 377 | Multiple Endocrine Neoplasia Type 1 | 3.3% |
| 378 | Anencephaly | 3.3% |
| 379 | Elephantiasis | 3.3% |
| 380 | Hypersplenism | 3.3% |
| 381 | Sarcoidosis | 3.3% |
| 382 | Elephantiasis Nostras Verrucosa | 3.3% |
| 383 | Nephroblastoma | 3.3% |
| 384 | Frontotemporal dementia | 3% |
| 385 | Adenomatous Polyposis Coli | 3% |
| 386 | Urogenital Abnormalities | 3% |
| 387 | CREST Syndrome | 2.9% |
| 388 | Febrile Neutropenia | 2.9% |
| 389 | Neonatal Abstinence Syndrome | 2.9% |
| 390 | Maxillofacial Abnormalities | 2.9% |
| 391 | Dural Arteriovenous Fistula | 2.9% |
| 392 | Dextrocardia | 2.9% |
| 393 | Fetal Growth Retardation | 2.8% |
| 394 | Fetal Hypoxia | 2.8% |
| 395 | Congenital nystagmus | 2.8% |
| 396 | Fetal Alcohol Spectrum Disorders | 2.8% |
| 397 | Toxoplasmosis, Congenital | 2.8% |
| 398 | Syphilis, Congenital | 2.8% |
| 399 | Granuloma | 2.8% |
| 400 | Histiocytic Disorders, Malignant | 2.8% |
| 401 | Splenic Infarction | 2.8% |
| 402 | Splenic Neoplasms | 2.8% |
| 403 | Histiocytosis, Langerhans-Cell | 2.7% |
| 404 | Tumor Lysis Syndrome | 2.7% |
| 405 | Deficiency Diseases | 2.6% |
| 406 | Prune Belly Syndrome | 2.6% |
| 407 | Starvation | 2.6% |
| 408 | Twins, Conjoined | 2.6% |
| 409 | Refeeding Syndrome | 2.6% |
| 410 | Waardenburg Syndrome | 2.6% |
| 411 | Chorioamnionitis | 2.5% |
| 412 | Fanconi Anemia | 2.4% |
| 413 | Splenic Rupture | 2.4% |
| 414 | Lymphoma | 2.4% |
| 415 | Scimitar Syndrome | 2.3% |
| 416 | Thymoma | 2.3% |
| 417 | Denys-Drash Syndrome | 2.3% |
| 418 | Acrocephalosyndactylia | 2.3% |
| 419 | Sezary Syndrome | 2.2% |
| 420 | Microcephaly | 2.2% |
| 421 | Macrocephaly | 2.2% |
| 422 | Anophthalmos | 2.2% |
| 423 | Anus, Imperforate | 2.2% |
| 424 | Hydranencephaly | 2.2% |
| 425 | Microphthalmos | 2.2% |
| 426 | Neural Tube Defects | 2.2% |
| 427 | Paralysis, Obstetric | 2.2% |
| 428 | Retinopathy of Prematurity | 2.2% |
| 429 | Tethered Cord Syndrome | 2.2% |
| 430 | Iniencephaly | 2.2% |
| 431 | Craniorachischisis | 2.2% |
| 432 | Limb Deformities, Congenital | 2.2% |
| 433 | Exencephaly | 2.2% |
| 434 | Septo-Optic Dysplasia | 2.2% |
| 435 | Craniofacial Abnormalities | 2.2% |
| 436 | Cortical Dysplasia | 2.2% |
| 437 | Malformations of Cortical Development | 2.2% |
| 438 | Anorectal Malformations | 2.2% |
| 439 | Abnormalities, Radiation-Induced | 2.2% |
| 440 | Bronchopulmonary Dysplasia | 2.2% |
| 441 | Craniosynostosis | 2.2% |
| 442 | Syndactyly | 2.2% |
| 443 | Brachycephaly | 2.2% |
| 444 | Porencephaly | 2% |
| 445 | Noonan Syndrome | 2% |
| 446 | Ophthalmia Neonatorum | 2% |
| 447 | Kwashiorkor | 1.9% |
| 448 | Lymphohistiocytosis, Hemophagocytic | 1.9% |
| 449 | Magnesium Deficiency | 1.9% |
| 450 | Potassium Deficiency | 1.9% |
| 451 | Protein Deficiency | 1.9% |
| 452 | Avitaminosis | 1.9% |
| 453 | Erdheim-Chester Disease | 1.9% |
| 454 | Cleft Palate | 1.9% |
| 455 | Blepharophimosis | 1.9% |
| 456 | Laryngostenosis | 1.9% |
| 457 | Mouth Abnormalities | 1.9% |
| 458 | Respiratory Distress Syndrome, Newborn | 1.9% |
| 459 | Esophageal Atresia | 1.9% |
| 460 | Intestinal Atresia | 1.9% |
| 461 | Horseshoe Kidney | 1.9% |
| 462 | Pectus excavatum | 1.9% |
| 463 | Klippel-Feil Syndrome | 1.9% |
| 464 | Gastroschisis | 1.9% |
| 465 | Synostosis | 1.9% |
| 466 | Acrodermatitis | 1.9% |
| 467 | Gianotti-Crosti Syndrome | 1.9% |
| 468 | Jaw Abnormalities | 1.8% |
| 469 | Poland Syndrome | 1.8% |
| 470 | Arthrogryposis | 1.7% |
| 471 | Choanal Atresia | 1.7% |
| 472 | Tracheobronchomegaly | 1.7% |
| 473 | Laryngocele | 1.7% |
| 474 | Choledochal Cyst | 1.7% |
| 475 | Hermaphroditism | 1.7% |
| 476 | Disorders of Sex Development | 1.7% |
| 477 | Cryptorchidism | 1.7% |
| 478 | Hypospadias | 1.7% |
| 479 | Central Nervous System Cysts | 1.7% |
| 480 | Dandy-Walker Syndrome | 1.6% |
| 481 | Leukomalacia, Periventricular | 1.6% |
| 482 | Amelia | 1.6% |
| 483 | Arachnodactyly | 1.6% |
| 484 | Ectopia Cordis | 1.6% |
| 485 | Ectromelia | 1.6% |
| 486 | Hemimelia | 1.6% |
| 487 | Malignant histiocytosis | 1.6% |
| 488 | Meningomyelocele | 1.6% |
| 489 | Phocomelia | 1.6% |
| 490 | Sarcoidosis, Pulmonary | 1.6% |
| 491 | Sirenomelia | 1.6% |
| 492 | Spina Bifida | 1.6% |
| 493 | Polydactyly | 1.6% |
| 494 | Brachydactyly | 1.6% |
| 495 | Plagiocephaly | 1.6% |
| 496 | Histiocytic sarcoma | 1.6% |
| 497 | Lower Extremity Deformities, Congenital | 1.6% |
| 498 | Upper Extremity Deformities, Congenital | 1.6% |
| 499 | Single umbilical artery | 1.6% |
| 500 | Ascorbic Acid Deficiency | 1.6% |
| 501 | Vitamin A Deficiency | 1.6% |
| 502 | Vitamin D Deficiency | 1.6% |
| 503 | Vitamin E Deficiency | 1.6% |
| 504 | Marasmus | 1.6% |
| 505 | Obesity | 1.6% |
| 506 | Micrognathism | 1.5% |
| 507 | Pierre Robin Syndrome | 1.5% |
| 508 | Laryngomalacia | 1.5% |
| 509 | Pectus carinatum | 1.5% |
| 510 | Bladder Exstrophy | 1.5% |
| 511 | Epispadias | 1.5% |
| 512 | Multicystic Dysplastic Kidney | 1.5% |
| 513 | Folic Acid Deficiency | 1.5% |
| 514 | Pellagra | 1.5% |
| 515 | Thiamine Deficiency | 1.5% |
| 516 | Vitamin B 12 Deficiency | 1.5% |
| 517 | Vitamin B 6 Deficiency | 1.5% |
| 518 | Pyridoxine Deficiency | 1.5% |
| 519 | Retrognathia | 1.4% |
| 520 | Aortic coarctation | 1.4% |
| 521 | Cor Triatriatum | 1.4% |
| 522 | Coronary Vessel Anomalies | 1.4% |
| 523 | Dental Enamel Hypoplasia | 1.4% |
| 524 | Patent ductus arteriosus | 1.4% |
| 525 | Ebstein Anomaly | 1.4% |
| 526 | Heart Septal Defects | 1.4% |
| 527 | Hyaline Membrane Disease | 1.4% |
| 528 | Hypodontia | 1.4% |
| 529 | Macrostomia | 1.4% |
| 530 | Meningocele | 1.4% |
| 531 | Microstomia | 1.4% |
| 532 | Tetralogy of Fallot | 1.4% |
| 533 | Transposition of Great Vessels | 1.4% |
| 534 | Hypoplastic Left Heart Syndrome | 1.4% |
| 535 | Splenosis | 1.4% |
| 536 | May-Thurner Syndrome | 1.4% |
| 537 | Encephalocele | 1.4% |
| 538 | Craniofacial Dysostosis | 1.4% |
| 539 | Hodgkin Disease | 1.4% |
| 540 | Lymphoma, Non-Hodgkin | 1.4% |
| 541 | Leukemia, T-Cell | 1.4% |
| 542 | Wolff-Parkinson-White Syndrome | 1.4% |
| 543 | Leukemia, B-Cell | 1.4% |
| 544 | Obesity, Abdominal | 1.4% |
| 545 | Beriberi | 1.4% |
| 546 | Dermal Sinus | 1.3% |
| 547 | Spina Bifida Cystica | 1.3% |
| 548 | Spina Bifida Occulta | 1.3% |
| 549 | Lissencephaly | 1.3% |
| 550 | Polymicrogyria | 1.3% |
| 551 | Pachygyria | 1.3% |
| 552 | Schizencephaly | 1.3% |
| 553 | Periventricular Nodular Heterotopia | 1.3% |
| 554 | Hyperandrogenism | 1.3% |
| 555 | Prognathism | 1.3% |
| 556 | Long QT Syndrome | 1.2% |
| 557 | Platybasia | 1.2% |
| 558 | Tricuspid Atresia | 1.2% |
| 559 | Arrhythmogenic Right Ventricular Dysplasia | 1.2% |
| 560 | Gonadal Dysgenesis | 1.2% |
| 561 | Bronchomalacia | 1.2% |
| 562 | Adrenogenital Syndrome | 1.2% |
| 563 | Composite Lymphoma | 1.2% |
| 564 | Tracheomalacia | 1.2% |
| 565 | Ovotesticular Disorders of Sex Development | 1.2% |
| 566 | Lymphangioleiomyomatosis | 1.2% |
| 567 | Pediatric Obesity | 1.2% |
| 568 | Aortopulmonary Septal Defect | 1.2% |
| 569 | Double Outlet Right Ventricle | 1.2% |
| 570 | Endocardial Cushion Defects | 1.2% |
| 571 | Myocardial bridging | 1.2% |
| 572 | Aorticopulmonary Septal Defect | 1.2% |
| 573 | Truncus Arteriosus, Persistent | 1% |
| 574 | Goldenhar Syndrome | 1% |
| 575 | Mandibulofacial Dysostosis | 1% |
| 576 | Romano-Ward Syndrome | 1% |
| 577 | Lymphoma, Follicular | 0.9% |
| 578 | T-Cell Lymphoma | 0.9% |
| 579 | Mantle cell lymphoma | 0.9% |
| 580 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 0.9% |
| 581 | Leukemia, Large Granular Lymphocytic | 0.9% |
| 582 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.9% |
| 583 | Talipes | 0.9% |
| 584 | Congenital clubfoot | 0.9% |
| 585 | Vertical Talus | 0.9% |
| 586 | Arteriovenous fistula | 0.8% |
| 587 | Subacute Combined Degeneration | 0.8% |
| 588 | Lymphoma, T-Cell, Cutaneous | 0.7% |
| 589 | Lymphoma, AIDS-Related | 0.7% |
| 590 | Enteropathy-Associated T-Cell Lymphoma | 0.7% |
| 591 | Primary Effusion Lymphoma | 0.7% |
| 592 | Lymphomatoid Granulomatosis | 0.6% |
| 593 | Mycosis Fungoides | 0.6% |
| 594 | Lymphomatoid Papulosis | 0.6% |
| 595 | Plasmablastic lymphoma | 0.6% |
| 596 | Burkitt Lymphoma | 0.5% |