| 1 | Beckwith-Wiedemann Syndrome | 28.8% |
| 2 | Wolf-Hirschhorn Syndrome | 28.8% |
| 3 | Abnormalities, Drug-Induced | 28.6% |
| 4 | Adenitis | 28.6% |
| 5 | Histiocytosis | 28.6% |
| 6 | Lymphadenitis | 28.6% |
| 7 | Lymphangitis | 28.6% |
| 8 | Lymphedema | 28.6% |
| 9 | Situs Inversus | 28.6% |
| 10 | Splenic Diseases | 28.6% |
| 11 | Thymus Hyperplasia | 28.6% |
| 12 | Pseudolymphoma | 28.6% |
| 13 | Lymphadenopathy | 28.6% |
| 14 | Holoprosencephaly | 26.9% |
| 15 | Smith-Magenis syndrome | 24.1% |
| 16 | Cri-du-Chat Syndrome | 23.7% |
| 17 | Down Syndrome | 23.7% |
| 18 | Trisomy 21 | 23.7% |
| 19 | Anencephaly | 22.4% |
| 20 | Eye Abnormalities | 22.2% |
| 21 | Cardiovascular Abnormalities | 22.2% |
| 22 | Aicardi's syndrome | 21.9% |
| 23 | Lymphocele | 21.4% |
| 24 | Lymphoproliferative Disorders | 21.4% |
| 25 | Skin Abnormalities | 21.4% |
| 26 | Congenital Microtia | 21.4% |
| 27 | Rubinstein-Taybi Syndrome | 21.2% |
| 28 | Thymus Neoplasms | 21.1% |
| 29 | Elephantiasis | 20.9% |
| 30 | Hypersplenism | 20.9% |
| 31 | Prune Belly Syndrome | 20.9% |
| 32 | Sarcoidosis | 20.9% |
| 33 | Twins, Conjoined | 20.9% |
| 34 | Elephantiasis Nostras Verrucosa | 20.9% |
| 35 | Waardenburg Syndrome | 20.9% |
| 36 | Congenital diaphragmatic hernia | 20.9% |
| 37 | Ectodermal Dysplasia | 20.4% |
| 38 | Aplasia Cutis Congenita | 20.4% |
| 39 | Prader-Willi Syndrome | 20.2% |
| 40 | Maxillofacial Abnormalities | 18.9% |
| 41 | Dural Arteriovenous Fistula | 18.9% |
| 42 | Dextrocardia | 18.6% |
| 43 | CHARGE Syndrome | 18.1% |
| 44 | Urogenital Abnormalities | 17.6% |
| 45 | Kartagener Syndrome | 17.6% |
| 46 | Lymphohistiocytosis, Hemophagocytic | 17.2% |
| 47 | Erdheim-Chester Disease | 17.2% |
| 48 | Agammaglobulinemia | 16.7% |
| 49 | Mucocutaneous Lymph Node Syndrome | 16.7% |
| 50 | Microcephaly | 15.9% |
| 51 | Macrocephaly | 15.9% |
| 52 | Anophthalmos | 15.8% |
| 53 | Anus, Imperforate | 15.8% |
| 54 | Granuloma | 15.8% |
| 55 | Histiocytic Disorders, Malignant | 15.8% |
| 56 | Hydranencephaly | 15.8% |
| 57 | Microphthalmos | 15.8% |
| 58 | Neural Tube Defects | 15.8% |
| 59 | Splenic Infarction | 15.8% |
| 60 | Splenic Neoplasms | 15.8% |
| 61 | Tethered Cord Syndrome | 15.8% |
| 62 | Iniencephaly | 15.8% |
| 63 | Craniorachischisis | 15.8% |
| 64 | Limb Deformities, Congenital | 15.8% |
| 65 | Exencephaly | 15.8% |
| 66 | Septo-Optic Dysplasia | 15.8% |
| 67 | Craniofacial Abnormalities | 15.8% |
| 68 | Cortical Dysplasia | 15.8% |
| 69 | Malformations of Cortical Development | 15.8% |
| 70 | Anorectal Malformations | 15.8% |
| 71 | Heavy Chain Disease | 15.6% |
| 72 | Marfan Syndrome | 15.6% |
| 73 | Bloom Syndrome | 15.5% |
| 74 | Histiocytosis, Langerhans-Cell | 15.5% |
| 75 | Tumor Lysis Syndrome | 15.5% |
| 76 | Nail-Patella Syndrome | 15.1% |
| 77 | Autoimmune Lymphoproliferative Syndrome | 15.1% |
| 78 | Genetic Diseases, Inborn | 15% |
| 79 | Xeroderma | 14.9% |
| 80 | Mobius Syndrome | 14.9% |
| 81 | Porencephaly | 14.9% |
| 82 | Classical Lissencephalies and Subcortical Band Heterotopias | 14.7% |
| 83 | Acrocephalosyndactylia | 14.6% |
| 84 | Sezary Syndrome | 14.4% |
| 85 | Craniosynostosis | 14.3% |
| 86 | Syndactyly | 14.3% |
| 87 | Brachycephaly | 14.3% |
| 88 | Scimitar Syndrome | 14.3% |
| 89 | Fragile X Syndrome | 14.2% |
| 90 | Alstrom Syndrome | 13.8% |
| 91 | Infectious Mononucleosis | 13.6% |
| 92 | Polycystic Kidney Diseases | 13.4% |
| 93 | Williams Syndrome | 13.4% |
| 94 | Turner Syndrome | 13% |
| 95 | Thrombasthenia | 13% |
| 96 | Antithrombin III Deficiency | 13% |
| 97 | Protein C Deficiency | 13% |
| 98 | POEMS Syndrome | 12.9% |
| 99 | Amelia | 12.8% |
| 100 | Arachnodactyly | 12.8% |
| 101 | Ectopia Cordis | 12.8% |
| 102 | Ectromelia | 12.8% |
| 103 | Hemimelia | 12.8% |
| 104 | Malignant histiocytosis | 12.8% |
| 105 | Meningomyelocele | 12.8% |
| 106 | Phocomelia | 12.8% |
| 107 | Sarcoidosis, Pulmonary | 12.8% |
| 108 | Sirenomelia | 12.8% |
| 109 | Spina Bifida | 12.8% |
| 110 | Polydactyly | 12.8% |
| 111 | Brachydactyly | 12.8% |
| 112 | Plagiocephaly | 12.8% |
| 113 | Histiocytic sarcoma | 12.8% |
| 114 | Lower Extremity Deformities, Congenital | 12.8% |
| 115 | Upper Extremity Deformities, Congenital | 12.8% |
| 116 | Single umbilical artery | 12.8% |
| 117 | Primary Ciliary Dyskinesia | 12.7% |
| 118 | Noonan Syndrome | 12.7% |
| 119 | Poland Syndrome | 12.7% |
| 120 | Anemia, Sickle Cell | 12.7% |
| 121 | Blepharophimosis | 12.7% |
| 122 | Laryngostenosis | 12.7% |
| 123 | Mouth Abnormalities | 12.7% |
| 124 | Splenic Rupture | 12.7% |
| 125 | Thalassemia | 12.7% |
| 126 | Cockayne Syndrome | 12.7% |
| 127 | Esophageal Atresia | 12.5% |
| 128 | Intestinal Atresia | 12.5% |
| 129 | Lymphoma | 12.5% |
| 130 | Horseshoe Kidney | 12.5% |
| 131 | Pectus excavatum | 12.5% |
| 132 | Klippel-Feil Syndrome | 12.4% |
| 133 | Gastroschisis | 12.4% |
| 134 | Synostosis | 12.4% |
| 135 | Cleft Palate | 12.4% |
| 136 | Afibrinogenemia | 12.4% |
| 137 | Factor VII Deficiency | 12.4% |
| 138 | Factor X Deficiency | 12.4% |
| 139 | Factor XII Deficiency | 12.4% |
| 140 | Hemophilia A | 12.4% |
| 141 | Activated Protein C Resistance | 12.4% |
| 142 | Factor II deficiency | 12.4% |
| 143 | Factor VIII Deficiency | 12.4% |
| 144 | Factor V deficiency | 12.4% |
| 145 | Factor XI Deficiency | 12.4% |
| 146 | Hypoprothrombinemias | 12.4% |
| 147 | Acrodermatitis | 12.3% |
| 148 | Disseminated Intravascular Coagulation | 12.3% |
| 149 | Lymphangiectasis, Intestinal | 12.3% |
| 150 | Protein S Deficiency | 12.3% |
| 151 | Gianotti-Crosti Syndrome | 12.3% |
| 152 | Anemia, Neonatal | 12.3% |
| 153 | Pelger-Huet Anomaly | 12.3% |
| 154 | Thymoma | 12.2% |
| 155 | Jaw Abnormalities | 12.1% |
| 156 | Thrombocythemia, Essential | 12% |
| 157 | Retinal Dysplasia | 12% |
| 158 | Aniridia | 11.9% |
| 159 | Waldenstrom Macroglobulinemia | 11.8% |
| 160 | Epidermolysis Bullosa | 11.7% |
| 161 | Abnormalities, Radiation-Induced | 11.6% |
| 162 | Smith-Lemli-Opitz Syndrome | 11.6% |
| 163 | Wiskott-Aldrich Syndrome | 11.5% |
| 164 | Klinefelter Syndrome | 11.5% |
| 165 | Ichthyosis, X-Linked | 11.5% |
| 166 | Dermal Sinus | 11.4% |
| 167 | Spina Bifida Cystica | 11.4% |
| 168 | Spina Bifida Occulta | 11.4% |
| 169 | Lissencephaly | 11.4% |
| 170 | Polymicrogyria | 11.4% |
| 171 | Pachygyria | 11.4% |
| 172 | Schizencephaly | 11.4% |
| 173 | Periventricular Nodular Heterotopia | 11.4% |
| 174 | Fetal Diseases | 11.1% |
| 175 | Anemia, Diamond-Blackfan | 11.1% |
| 176 | Polycystic Kidney, Autosomal Dominant | 11% |
| 177 | Pseudoxanthoma Elasticum | 10.9% |
| 178 | Micrognathism | 10.9% |
| 179 | Pierre Robin Syndrome | 10.9% |
| 180 | Sickle Cell Trait | 10.7% |
| 181 | Arthrogryposis | 10.6% |
| 182 | Choanal Atresia | 10.6% |
| 183 | Tracheobronchomegaly | 10.6% |
| 184 | Laryngocele | 10.6% |
| 185 | Choledochal Cyst | 10.5% |
| 186 | Hermaphroditism | 10.5% |
| 187 | Disorders of Sex Development | 10.5% |
| 188 | Cryptorchidism | 10.3% |
| 189 | Hypospadias | 10.3% |
| 190 | Central Nervous System Cysts | 10.3% |
| 191 | Dandy-Walker Syndrome | 10.2% |
| 192 | Aortic coarctation | 10.2% |
| 193 | Cor Triatriatum | 10.2% |
| 194 | Coronary Vessel Anomalies | 10.2% |
| 195 | Dental Enamel Hypoplasia | 10.2% |
| 196 | Patent ductus arteriosus | 10.2% |
| 197 | Ebstein Anomaly | 10.2% |
| 198 | Heart Septal Defects | 10.2% |
| 199 | Hypodontia | 10.2% |
| 200 | Macrostomia | 10.2% |
| 201 | Meningocele | 10.2% |
| 202 | Microstomia | 10.2% |
| 203 | Tetralogy of Fallot | 10.2% |
| 204 | Transposition of Great Vessels | 10.2% |
| 205 | Hypoplastic Left Heart Syndrome | 10.2% |
| 206 | Splenosis | 10.2% |
| 207 | May-Thurner Syndrome | 10.2% |
| 208 | Encephalocele | 10.2% |
| 209 | Craniofacial Dysostosis | 10.1% |
| 210 | Hodgkin Disease | 10.1% |
| 211 | Lymphoma, Non-Hodgkin | 10.1% |
| 212 | Leukemia, T-Cell | 10.1% |
| 213 | Wolff-Parkinson-White Syndrome | 10.1% |
| 214 | Leukemia, B-Cell | 10.1% |
| 215 | Eosinophilic Granuloma | 9.7% |
| 216 | Retrognathia | 9.7% |
| 217 | Hyperkeratosis, Epidermolytic | 9.7% |
| 218 | Abdominal Cramps | 9.5% |
| 219 | Amniotic Band Syndrome | 9.5% |
| 220 | Anemia | 9.5% |
| 221 | Asphyxia Neonatorum | 9.5% |
| 222 | Blood Coagulation Disorders | 9.5% |
| 223 | Blood Platelet Disorders | 9.5% |
| 224 | Bone Marrow Diseases | 9.5% |
| 225 | Cystic Fibrosis | 9.5% |
| 226 | Hemorrhagic Disorders | 9.5% |
| 227 | Infant, Premature, Diseases | 9.5% |
| 228 | Leukocyte Disorders | 9.5% |
| 229 | Methemoglobinemia | 9.5% |
| 230 | Pancytopenia | 9.5% |
| 231 | Polycythemia | 9.5% |
| 232 | Sulfhemoglobinemia | 9.5% |
| 233 | Infantile Colic | 9.5% |
| 234 | Thrombophilia | 9.5% |
| 235 | Erythrocytosis | 9.5% |
| 236 | Charcot-Marie-Tooth Disease | 9.5% |
| 237 | Antley-Bixler Syndrome Phenotype | 9.5% |
| 238 | Sjogren-Larsson Syndrome | 9.5% |
| 239 | Thrombocytosis | 9.4% |
| 240 | Aortopulmonary Septal Defect | 9% |
| 241 | Double Outlet Right Ventricle | 9% |
| 242 | Endocardial Cushion Defects | 9% |
| 243 | Myocardial bridging | 9% |
| 244 | Aorticopulmonary Septal Defect | 9% |
| 245 | Lymphoma, Follicular | 9% |
| 246 | T-Cell Lymphoma | 9% |
| 247 | Laryngomalacia | 9% |
| 248 | Mantle cell lymphoma | 9% |
| 249 | Kallmann Syndrome | 9% |
| 250 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 9% |
| 251 | Leukemia, Large Granular Lymphocytic | 9% |
| 252 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 9% |
| 253 | Pectus carinatum | 8.9% |
| 254 | Hyperandrogenism | 8.8% |
| 255 | Bladder Exstrophy | 8.8% |
| 256 | Epispadias | 8.8% |
| 257 | Multicystic Dysplastic Kidney | 8.7% |
| 258 | Prognathism | 8.7% |
| 259 | Hemoglobinuria, Paroxysmal | 8.5% |
| 260 | Leukemoid Reaction | 8.5% |
| 261 | Long QT Syndrome | 8.5% |
| 262 | Platybasia | 8.5% |
| 263 | Tricuspid Atresia | 8.5% |
| 264 | Arrhythmogenic Right Ventricular Dysplasia | 8.5% |
| 265 | Truncus Arteriosus, Persistent | 8.5% |
| 266 | Lymphoma, T-Cell, Cutaneous | 8.4% |
| 267 | Lymphoma, AIDS-Related | 8.4% |
| 268 | Goldenhar Syndrome | 8.4% |
| 269 | Enteropathy-Associated T-Cell Lymphoma | 8.4% |
| 270 | Primary Effusion Lymphoma | 8.4% |
| 271 | Gonadal Dysgenesis | 8.4% |
| 272 | Bronchomalacia | 8.4% |
| 273 | Adrenogenital Syndrome | 8.4% |
| 274 | Composite Lymphoma | 8.4% |
| 275 | Tracheomalacia | 8.4% |
| 276 | Ovotesticular Disorders of Sex Development | 8.4% |
| 277 | Fanconi Anemia | 8.4% |
| 278 | Polycythemia Vera | 8.3% |
| 279 | Lymphangioleiomyomatosis | 8.3% |
| 280 | Bone Marrow Neoplasms | 8.2% |
| 281 | Mycosis Fungoides | 8.2% |
| 282 | Lymphomatoid Papulosis | 8.2% |
| 283 | Plasmablastic lymphoma | 8.2% |
| 284 | Xeroderma Pigmentosum | 8.2% |
| 285 | Vitamin K Deficiency | 8.1% |
| 286 | Acute Chest Syndrome | 8.1% |
| 287 | Meconium Aspiration Syndrome | 8% |
| 288 | Tuberous Sclerosis | 8% |
| 289 | Hydrops Fetalis | 7.8% |
| 290 | Zellweger Syndrome | 7.7% |
| 291 | Refsum Disease | 7.6% |
| 292 | Mandibulofacial Dysostosis | 7.5% |
| 293 | Chronic granulomatous disease | 7.5% |
| 294 | Romano-Ward Syndrome | 7.5% |
| 295 | Neoplastic Syndromes, Hereditary | 7.4% |
| 296 | Transfusion Reaction | 7.4% |
| 297 | Hypotensive Transfusion Reaction | 7.4% |
| 298 | Basal Cell Nevus Syndrome | 7.3% |
| 299 | Pregnancy Complications, Hematologic | 7.1% |
| 300 | Hematologic Neoplasms | 7.1% |
| 301 | Lymphomatoid Granulomatosis | 7.1% |
| 302 | Talipes | 7.1% |
| 303 | Multiple Epiphyseal Dysplasia | 7% |
| 304 | Osteochondrodysplasias | 7% |
| 305 | Persistent Fetal Circulation Syndrome | 7% |
| 306 | Werner Syndrome | 7% |
| 307 | Myasthenic Syndromes, Congenital | 7% |
| 308 | Anemia, Hemolytic | 7% |
| 309 | Anemia, Macrocytic | 7% |
| 310 | Eosinophilia | 7% |
| 311 | Hypoproteinemia | 7% |
| 312 | Leukopenia | 7% |
| 313 | Familial Mediterranean Fever | 7% |
| 314 | Thrombocytopenia | 7% |
| 315 | Leukostasis | 7% |
| 316 | MYELODYSPLASTIC SYNDROME | 7% |
| 317 | Purpura, Thrombotic Thrombocytopenic | 6.9% |
| 318 | Umbilical hernia | 6.9% |
| 319 | Niemann-Pick Disease, Type C | 6.9% |
| 320 | Congenital clubfoot | 6.8% |
| 321 | Vertical Talus | 6.8% |
| 322 | Muscular Dystrophy, Duchenne | 6.7% |
| 323 | Rett Syndrome | 6.7% |
| 324 | Albinism | 6.4% |
| 325 | Mucopolysaccharidosis II | 6.2% |
| 326 | Burkitt Lymphoma | 6% |
| 327 | Dwarfism | 5.8% |
| 328 | Primary Myelofibrosis | 5.7% |
| 329 | Agranulocytosis | 5.7% |
| 330 | Anemia, Megaloblastic | 5.7% |
| 331 | Lymphocytosis | 5.7% |
| 332 | Myelofibrosis | 5.7% |
| 333 | Myeloid Metaplasia | 5.7% |
| 334 | Hypoalbuminemia | 5.7% |
| 335 | Hypereosinophilic syndrome | 5.7% |
| 336 | bone marrow fibrosis | 5.7% |
| 337 | Thrombotic Microangiopathies | 5.7% |
| 338 | Neonatal Abstinence Syndrome | 5.7% |
| 339 | Cryoglobulinemia | 5.6% |
| 340 | Monoclonal Gammopathy of Undetermined Significance | 5.6% |
| 341 | Arteriovenous fistula | 5.6% |
| 342 | Fetal Growth Retardation | 5.6% |
| 343 | Muscular Dystrophy | 5.5% |
| 344 | Osteogenesis Imperfecta | 5.5% |
| 345 | Fetal Hypoxia | 5.5% |
| 346 | Congenital nystagmus | 5.5% |
| 347 | Fetal Alcohol Spectrum Disorders | 5.5% |
| 348 | Autoimmune thrombocytopenia | 5.5% |
| 349 | Immune thrombocytopenic purpura | 5.5% |
| 350 | Menkes Kinky Hair Syndrome | 5.5% |
| 351 | Toxoplasmosis, Congenital | 5.5% |
| 352 | Syphilis, Congenital | 5.4% |
| 353 | Leukocytosis | 5.3% |
| 354 | Paralysis, Obstetric | 5.3% |
| 355 | Paraproteinemias | 5.3% |
| 356 | Retinopathy of Prematurity | 5.3% |
| 357 | Pleocytosis | 5.3% |
| 358 | Hemolytic-Uremic Syndrome | 5.2% |
| 359 | Amino Acid Metabolism, Inborn Errors | 5.2% |
| 360 | Carbohydrate Metabolism, Inborn Errors | 5.2% |
| 361 | Metal Metabolism, Inborn Errors | 5.2% |
| 362 | Progeria | 5.2% |
| 363 | Lysosomal Storage Diseases | 5.2% |
| 364 | Cytochrome-c Oxidase Deficiency | 5.2% |
| 365 | Peroxisomal Disorders | 5.2% |
| 366 | Neutropenia | 5.1% |
| 367 | Bronchopulmonary Dysplasia | 5.1% |
| 368 | Kernicterus | 5.1% |
| 369 | Neuronal Ceroid-Lipofuscinoses | 5% |
| 370 | Febrile Neutropenia | 4.8% |
| 371 | Atypical Hemolytic Uremic Syndrome | 4.8% |
| 372 | Purpura, Hyperglobulinemic | 4.8% |
| 373 | Thrombocytopenic purpura | 4.6% |
| 374 | Congenital Hyperinsulinism | 4.6% |
| 375 | Chorioamnionitis | 4.6% |
| 376 | Angioedemas, Hereditary | 4.5% |
| 377 | Myotonic Dystrophy | 4.5% |
| 378 | Adrenoleukodystrophy | 4.4% |
| 379 | Glycogen storage disease type II | 4.4% |
| 380 | Lymphopenia | 4.3% |
| 381 | Fabry Disease | 4.3% |
| 382 | Denys-Drash Syndrome | 4.3% |
| 383 | Job Syndrome | 4.3% |
| 384 | Alkaptonuria | 4.2% |
| 385 | Glycogen Storage Disease | 4.2% |
| 386 | Hypophosphatasia | 4.2% |
| 387 | Leukemia, Myelomonocytic, Chronic | 4.2% |
| 388 | Propionic acidemia | 4.2% |
| 389 | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | 4.2% |
| 390 | Dihydropyrimidine Dehydrogenase Deficiency | 4.2% |
| 391 | Cystinosis | 4.2% |
| 392 | Hypergammaglobulinemia | 4.2% |
| 393 | Mucopolysaccharidosis III | 4.2% |
| 394 | Respiratory Distress Syndrome, Newborn | 4.2% |
| 395 | Multiple Myeloma | 4.2% |
| 396 | Cutis Laxa | 4.2% |
| 397 | Retinitis Pigmentosa | 4.1% |
| 398 | Transfusion-Related Acute Lung Injury | 4.1% |
| 399 | Pigmentary retinopathy | 4.1% |
| 400 | Galactosemias | 4.1% |
| 401 | Urea Cycle Disorders, Inborn | 4.1% |
| 402 | Tyrosinemias | 4.1% |
| 403 | Ecchymosis | 4.1% |
| 404 | Petechiae | 4.1% |
| 405 | Purpura | 4.1% |
| 406 | Porokeratosis | 4.1% |
| 407 | Keratoderma, Palmoplantar | 4.1% |
| 408 | Hepatolenticular Degeneration | 4.1% |
| 409 | Amyloid Neuropathies, Familial | 4% |
| 410 | Welander Distal Myopathy | 4% |
| 411 | Pulmonary Eosinophilia | 3.9% |
| 412 | Eosinophilic Pneumonia | 3.9% |
| 413 | Glycogen Storage Disease Type I | 3.8% |
| 414 | Glycogen Storage Disease Type V | 3.8% |
| 415 | Leukemia, Myeloid, Chronic-Phase | 3.8% |
| 416 | Anemia, Pernicious | 3.8% |
| 417 | Gaucher Disease | 3.7% |
| 418 | Optic Atrophy, Hereditary, Leber | 3.7% |
| 419 | Hyperphosphaturia | 3.7% |
| 420 | Tay-Sachs Disease | 3.5% |
| 421 | Homocystinuria | 3.5% |
| 422 | Duane Retraction Syndrome | 3.5% |
| 423 | Leigh Disease | 3.5% |
| 424 | Canavan Disease | 3.5% |
| 425 | Alexander Disease | 3.5% |
| 426 | Eosinophilia-Myalgia Syndrome | 3.4% |
| 427 | Porphyrias, Hepatic | 3.4% |
| 428 | Hyaline Membrane Disease | 3.4% |
| 429 | Shwartzman Phenomenon | 3.4% |
| 430 | Peutz-Jeghers Syndrome | 3.4% |
| 431 | Myotonia Congenita | 3.4% |
| 432 | Brain Diseases, Metabolic, Inborn | 3.4% |
| 433 | Hemangioma, Cavernous | 3.4% |
| 434 | Dystonia Musculorum Deformans | 3.4% |
| 435 | Leukomalacia, Periventricular | 3.4% |
| 436 | Scurvy | 3.4% |
| 437 | Hypolipoproteinemias | 3.4% |
| 438 | Papillon-Lefevre Disease | 3.4% |
| 439 | Purpura Fulminans | 3.4% |
| 440 | Nesidioblastosis | 3.4% |
| 441 | Hyperlipidemia, Familial Combined | 3.3% |
| 442 | Hyperlipoproteinemia Type III | 3.3% |
| 443 | Lafora Disease | 3.3% |
| 444 | Unverricht-Lundborg Syndrome | 3.3% |
| 445 | Ophthalmia Neonatorum | 3.3% |
| 446 | Waterhouse-Friderichsen Syndrome | 3.3% |
| 447 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 3.3% |
| 448 | Ataxia Telangiectasia | 3% |
| 449 | Multiple Endocrine Neoplasia | 3% |
| 450 | Hypoalphalipoproteinemias | 3% |
| 451 | Congenital Hypothyroidism | 2.9% |
| 452 | Dermatitis, Atopic | 2.9% |
| 453 | Familial Periodic Paralysis | 2.8% |
| 454 | Lactose Intolerance | 2.8% |
| 455 | Variegate Porphyria | 2.8% |
| 456 | Acute intermittent porphyria | 2.8% |
| 457 | Porphyria Cutanea Tarda | 2.8% |
| 458 | Hyperhomocysteinemia | 2.8% |
| 459 | Renal Aminoacidurias | 2.8% |
| 460 | Fanconi Syndrome | 2.8% |
| 461 | Pseudohypoaldosteronism | 2.8% |
| 462 | Liddle Syndrome | 2.8% |
| 463 | Hyperlipoproteinemia Type IV | 2.8% |
| 464 | Hyperlipoproteinemia Type V | 2.8% |
| 465 | Behcet Syndrome | 2.5% |
| 466 | Hypokalemic periodic paralysis | 2.5% |
| 467 | Cystinuria | 2.5% |
| 468 | Gout | 2.4% |
| 469 | Multiple Endocrine Neoplasia Type 1 | 2.4% |
| 470 | Pseudohypoparathyroidism | 2.4% |
| 471 | Friedreich Ataxia | 2.4% |
| 472 | Renal tubular acidosis | 2.4% |
| 473 | Huntington Disease | 2.2% |
| 474 | Arthritis, Gouty | 2.1% |
| 475 | Familial Hypophosphatemic Rickets | 2.1% |
| 476 | Nephroblastoma | 2% |
| 477 | Glycosuria, Renal | 1.8% |
| 478 | Adenomatous Polyposis Coli | 1.8% |
| 479 | MELAS Syndrome | 1.5% |