| 1 | Laryngostenosis | 42% |
| 2 | Tracheobronchomegaly | 40.4% |
| 3 | Choanal Atresia | 36.8% |
| 4 | Laryngitis | 36.4% |
| 5 | Vocal Cord Dysfunction | 36.4% |
| 6 | Laryngeal Edema | 32.9% |
| 7 | Granuloma, Laryngeal | 32.4% |
| 8 | Laryngeal neoplasm | 31.1% |
| 9 | Scimitar Syndrome | 29.4% |
| 10 | Kartagener Syndrome | 27.3% |
| 11 | Laryngospasm | 26.5% |
| 12 | Laryngomalacia | 26.4% |
| 13 | Voice Disorders | 24.6% |
| 14 | Voice Disturbance | 24.6% |
| 15 | Croup | 24.1% |
| 16 | Nose Diseases | 22.2% |
| 17 | Bronchitis | 22% |
| 18 | Primary Ciliary Dyskinesia | 22% |
| 19 | Vocal Cord Paralysis | 21.5% |
| 20 | Pleuropneumonia | 20.5% |
| 21 | Rhinitis | 20.2% |
| 22 | Bronchopneumonia | 19.8% |
| 23 | Hoarseness | 19.8% |
| 24 | Asthma | 19% |
| 25 | Pleurisy | 18.8% |
| 26 | Pneumonia | 18.8% |
| 27 | Lobar Pneumonia | 18.8% |
| 28 | Respiratory Distress Syndrome, Adult | 18.8% |
| 29 | Tracheitis | 18.8% |
| 30 | Pneumonitis | 18.8% |
| 31 | Bronchitis, Chronic | 18.6% |
| 32 | Laryngopharyngeal Reflux | 18.4% |
| 33 | Respiratory Distress Syndrome, Newborn | 18% |
| 34 | Aphonia | 17.9% |
| 35 | Dysphonia | 17.9% |
| 36 | Bronchial Diseases | 17.4% |
| 37 | Lung diseases | 17.4% |
| 38 | Pleural Diseases | 17.4% |
| 39 | Respiration Disorders | 17.4% |
| 40 | Thoracic Diseases | 17.4% |
| 41 | Tracheal Diseases | 17.4% |
| 42 | Sinusitis | 16.8% |
| 43 | Paranasal Sinus Neoplasms | 16.6% |
| 44 | Bronchiolitis | 16.6% |
| 45 | Lung Diseases, Fungal | 16.2% |
| 46 | Bronchial Fistula | 15.9% |
| 47 | Lung Abscess | 15.9% |
| 48 | Lung Neoplasms | 15.9% |
| 49 | Pleural Neoplasms | 15.9% |
| 50 | Tuberculosis, Pulmonary | 15.9% |
| 51 | Meconium Aspiration Syndrome | 15.5% |
| 52 | Congenital Microtia | 15.3% |
| 53 | Pleural Effusion, Malignant | 15.3% |
| 54 | Nose Neoplasms | 15% |
| 55 | Respiratory Tract Infections | 14.5% |
| 56 | Aspergillosis, Allergic Bronchopulmonary | 14.3% |
| 57 | Granuloma, Respiratory Tract | 14.3% |
| 58 | Respiratory Hypersensitivity | 14.3% |
| 59 | Respiratory Tract Fistula | 14.3% |
| 60 | Granuloma, Lethal Midline | 14.1% |
| 61 | Nose Deformities, Acquired | 14.1% |
| 62 | Holoprosencephaly | 14.1% |
| 63 | Tracheal Neoplasms | 13.9% |
| 64 | Aspiration Pneumonia | 13.8% |
| 65 | Bronchial Neoplasms | 13.8% |
| 66 | Beckwith-Wiedemann Syndrome | 13.7% |
| 67 | Wolf-Hirschhorn Syndrome | 13.7% |
| 68 | Maxillary Sinus Neoplasms | 13.6% |
| 69 | Hyaline Membrane Disease | 13.2% |
| 70 | Acute Chest Syndrome | 12.9% |
| 71 | Abnormalities, Drug-Induced | 12.7% |
| 72 | Situs Inversus | 12.7% |
| 73 | Idiopathic Pulmonary Fibrosis | 12.6% |
| 74 | Rhinoscleroma | 12.4% |
| 75 | Cystic Fibrosis | 12.4% |
| 76 | Pharyngitis | 12.1% |
| 77 | Pneumoconiosis | 12.1% |
| 78 | Pneumonia, Viral | 12.1% |
| 79 | Smith-Magenis syndrome | 12.1% |
| 80 | Aicardi's syndrome | 12% |
| 81 | Nasal Polyps | 12% |
| 82 | Cri-du-Chat Syndrome | 11.9% |
| 83 | Down Syndrome | 11.9% |
| 84 | Trisomy 21 | 11.9% |
| 85 | Pneumonia, Bacterial | 11.9% |
| 86 | Asthma, Exercise-Induced | 11.7% |
| 87 | Status Asthmaticus | 11.7% |
| 88 | Multiple Pulmonary Nodules | 11.7% |
| 89 | Hay fever | 11.4% |
| 90 | Rhinitis, Allergic, Perennial | 11.4% |
| 91 | Pneumonia, Lipid | 11.4% |
| 92 | Rubinstein-Taybi Syndrome | 11.3% |
| 93 | Altitude Sickness | 11.3% |
| 94 | Atelectasis | 11.3% |
| 95 | Bronchospasm | 11.3% |
| 96 | Bronchiectasis | 11.3% |
| 97 | Chylothorax | 11.3% |
| 98 | Hydropneumothorax | 11.3% |
| 99 | Hydrothorax | 11.3% |
| 100 | Pulmonary Hypertension | 11.3% |
| 101 | Pneumothorax | 11.3% |
| 102 | Pulmonary Alveolar Proteinosis | 11.3% |
| 103 | Pulmonary Edema | 11.3% |
| 104 | Pulmonary Fibrosis | 11.3% |
| 105 | Respiratory Insufficiency | 11.3% |
| 106 | Tracheal Stenosis | 11.3% |
| 107 | Bronchial Hyperreactivity | 11.3% |
| 108 | Hamman-Rich syndrome | 11.3% |
| 109 | Lung Diseases, Interstitial | 11.3% |
| 110 | Respiratory Depression | 11.3% |
| 111 | Lung Diseases, Obstructive | 11.3% |
| 112 | Respiratory Failure | 11.3% |
| 113 | Eye Abnormalities | 10.8% |
| 114 | Cardiovascular Abnormalities | 10.8% |
| 115 | Bronchiolitis Obliterans | 10.8% |
| 116 | Ectodermal Dysplasia | 10.6% |
| 117 | Aplasia Cutis Congenita | 10.6% |
| 118 | Skin Abnormalities | 10.6% |
| 119 | Lymphatic Abnormalities | 10.6% |
| 120 | Prader-Willi Syndrome | 10.5% |
| 121 | Persistent Fetal Circulation Syndrome | 10.5% |
| 122 | Asthma, Occupational | 10.5% |
| 123 | Epistaxis | 10.4% |
| 124 | Congenital diaphragmatic hernia | 10.4% |
| 125 | Rhinitis, Vasomotor | 10.3% |
| 126 | Radiation Pneumonitis | 10.3% |
| 127 | Radiation Fibrosis | 10.3% |
| 128 | Anencephaly | 10.2% |
| 129 | Asbestosis | 9.8% |
| 130 | Berylliosis | 9.8% |
| 131 | Silicosis | 9.8% |
| 132 | Lung Injury | 9.4% |
| 133 | Hepatopulmonary Syndrome | 9.4% |
| 134 | Respiratory Aspiration | 9.4% |
| 135 | Farmer's Lung | 9.4% |
| 136 | Apnea | 9.3% |
| 137 | Cheyne-Stokes Respiration | 9.3% |
| 138 | Common Cold | 9.3% |
| 139 | Dyspnea | 9.3% |
| 140 | Hemothorax | 9.3% |
| 141 | Hyperventilation | 9.3% |
| 142 | Influenza | 9.3% |
| 143 | Mouth Breathing | 9.3% |
| 144 | Tachypnea | 9.3% |
| 145 | Catarrh | 9.3% |
| 146 | Urogenital Abnormalities | 9.3% |
| 147 | Pulmonary Embolism | 9.2% |
| 148 | Pulmonary Eosinophilia | 9.2% |
| 149 | Severe Acute Respiratory Syndrome | 9.2% |
| 150 | Eosinophilic Pneumonia | 9.2% |
| 151 | Nasopharyngitis | 9.1% |
| 152 | Asthma, Aspirin-Induced | 9.1% |
| 153 | Maxillofacial Abnormalities | 9% |
| 154 | Dural Arteriovenous Fistula | 9% |
| 155 | Dextrocardia | 8.9% |
| 156 | CHARGE Syndrome | 8.9% |
| 157 | Bronchomalacia | 8.9% |
| 158 | Tracheomalacia | 8.9% |
| 159 | Tonsillitis | 8.8% |
| 160 | Ear Diseases | 8.7% |
| 161 | Marfan Syndrome | 8.4% |
| 162 | Airway Obstruction | 8.3% |
| 163 | Choking | 8.3% |
| 164 | Epiglottitis | 8.3% |
| 165 | Chronic Obstructive Airway Disease | 8.3% |
| 166 | Mediastinitis | 8.3% |
| 167 | Middle Lobe Syndrome | 8.3% |
| 168 | Prune Belly Syndrome | 8.3% |
| 169 | Twins, Conjoined | 8.3% |
| 170 | Acute Lung Injury | 8.3% |
| 171 | Waardenburg Syndrome | 8.3% |
| 172 | Blastomycosis | 8.1% |
| 173 | Bronchopulmonary Dysplasia | 8% |
| 174 | Ear Neoplasms | 8% |
| 175 | Hemoptysis | 7.9% |
| 176 | Pertussis | 7.9% |
| 177 | Nail-Patella Syndrome | 7.8% |
| 178 | Xeroderma | 7.8% |
| 179 | Mobius Syndrome | 7.8% |
| 180 | Retropharyngeal Abscess | 7.7% |
| 181 | Laryngeal Diseases | 7.4% |
| 182 | Pharyngeal Diseases | 7.4% |
| 183 | Genetic Diseases, Inborn | 7.2% |
| 184 | Alstrom Syndrome | 7.2% |
| 185 | Acrocephalosyndactylia | 7% |
| 186 | Laryngocele | 7% |
| 187 | Pharyngeal Neoplasms | 7% |
| 188 | Anophthalmos | 7% |
| 189 | Anus, Imperforate | 7% |
| 190 | Hydranencephaly | 7% |
| 191 | Mediastinal Cyst | 7% |
| 192 | Microphthalmos | 7% |
| 193 | Neural Tube Defects | 7% |
| 194 | Pericardial Cyst | 7% |
| 195 | Thymic Cyst | 7% |
| 196 | Tethered Cord Syndrome | 7% |
| 197 | Iniencephaly | 7% |
| 198 | Craniorachischisis | 7% |
| 199 | Limb Deformities, Congenital | 7% |
| 200 | Exencephaly | 7% |
| 201 | Septo-Optic Dysplasia | 7% |
| 202 | Craniofacial Abnormalities | 7% |
| 203 | Cortical Dysplasia | 7% |
| 204 | Malformations of Cortical Development | 7% |
| 205 | Anorectal Malformations | 7% |
| 206 | Microcephaly | 6.9% |
| 207 | Macrocephaly | 6.9% |
| 208 | Bloom Syndrome | 6.9% |
| 209 | Histiocytosis, Langerhans-Cell | 6.9% |
| 210 | Labyrinthitis | 6.9% |
| 211 | Mediastinal Emphysema | 6.9% |
| 212 | Pulmonary Emphysema | 6.9% |
| 213 | Pulmonary Aspergillosis | 6.9% |
| 214 | Bronchopulmonary Aspergillosis | 6.9% |
| 215 | Hypoventilation | 6.9% |
| 216 | Acidosis, Respiratory | 6.9% |
| 217 | Alkalosis, Respiratory | 6.9% |
| 218 | Sarcoidosis, Pulmonary | 6.9% |
| 219 | Sleep Apnea Syndromes | 6.9% |
| 220 | Pulmonary Infarction | 6.8% |
| 221 | Abnormalities, Radiation-Induced | 6.8% |
| 222 | Cockayne Syndrome | 6.8% |
| 223 | Polycystic Kidney Diseases | 6.8% |
| 224 | Williams Syndrome | 6.8% |
| 225 | Craniosynostosis | 6.7% |
| 226 | Syndactyly | 6.7% |
| 227 | Brachycephaly | 6.7% |
| 228 | Fragile X Syndrome | 6.7% |
| 229 | Turner Syndrome | 6.6% |
| 230 | Classical Lissencephalies and Subcortical Band Heterotopias | 6.4% |
| 231 | Peritonsillar Abscess | 6.3% |
| 232 | Porencephaly | 6.3% |
| 233 | Retinal Dysplasia | 6.2% |
| 234 | Ichthyosis, X-Linked | 6.2% |
| 235 | Aniridia | 6.2% |
| 236 | Noonan Syndrome | 6.1% |
| 237 | Nasopharyngeal Neoplasms | 6.1% |
| 238 | Epidermolysis Bullosa | 6.1% |
| 239 | Fetal Diseases | 6% |
| 240 | Smith-Lemli-Opitz Syndrome | 6% |
| 241 | Blepharophimosis | 6% |
| 242 | Mouth Abnormalities | 6% |
| 243 | Cleft Palate | 6% |
| 244 | Esophageal Atresia | 5.9% |
| 245 | Intestinal Atresia | 5.9% |
| 246 | Horseshoe Kidney | 5.9% |
| 247 | Pectus excavatum | 5.9% |
| 248 | Klippel-Feil Syndrome | 5.9% |
| 249 | Gastroschisis | 5.9% |
| 250 | Synostosis | 5.9% |
| 251 | Acrodermatitis | 5.9% |
| 252 | Lymphangiectasis, Intestinal | 5.9% |
| 253 | Gianotti-Crosti Syndrome | 5.9% |
| 254 | Dyspnea, Paroxysmal | 5.9% |
| 255 | Respiratory Paralysis | 5.9% |
| 256 | Granulomatosis with polyangiitis | 5.8% |
| 257 | Sleep Apnea, Obstructive | 5.7% |
| 258 | Sleep Apnea, Central | 5.7% |
| 259 | Otosclerosis | 5.6% |
| 260 | Tympanosclerosis | 5.6% |
| 261 | Jaw Abnormalities | 5.6% |
| 262 | Poland Syndrome | 5.5% |
| 263 | Klinefelter Syndrome | 5.3% |
| 264 | Arthrogryposis | 5.3% |
| 265 | Choledochal Cyst | 5.2% |
| 266 | Hermaphroditism | 5.2% |
| 267 | Disorders of Sex Development | 5.2% |
| 268 | Cryptorchidism | 5.2% |
| 269 | Hypospadias | 5.2% |
| 270 | Central Nervous System Cysts | 5.2% |
| 271 | Amelia | 5.1% |
| 272 | Arachnodactyly | 5.1% |
| 273 | Ectopia Cordis | 5.1% |
| 274 | Ectromelia | 5.1% |
| 275 | Hemimelia | 5.1% |
| 276 | Meningomyelocele | 5.1% |
| 277 | Phocomelia | 5.1% |
| 278 | Sirenomelia | 5.1% |
| 279 | Spina Bifida | 5.1% |
| 280 | Polydactyly | 5.1% |
| 281 | Brachydactyly | 5.1% |
| 282 | Plagiocephaly | 5.1% |
| 283 | Lower Extremity Deformities, Congenital | 5.1% |
| 284 | Upper Extremity Deformities, Congenital | 5.1% |
| 285 | Single umbilical artery | 5.1% |
| 286 | Dandy-Walker Syndrome | 5.1% |
| 287 | Anti-Glomerular Basement Membrane Disease | 5.1% |
| 288 | Hypopharyngeal Neoplasms | 5.1% |
| 289 | Hypopharyngeal Cancer | 5.1% |
| 290 | POEMS Syndrome | 5.1% |
| 291 | Polycystic Kidney, Autosomal Dominant | 5% |
| 292 | Sjogren-Larsson Syndrome | 5% |
| 293 | Pseudoxanthoma Elasticum | 5% |
| 294 | Transfusion-Related Acute Lung Injury | 4.9% |
| 295 | Invasive Pulmonary Aspergillosis | 4.9% |
| 296 | Tympanic Membrane Perforation | 4.8% |
| 297 | Micrognathism | 4.8% |
| 298 | Pierre Robin Syndrome | 4.8% |
| 299 | Otomycosis | 4.7% |
| 300 | Deglutition Disorders | 4.7% |
| 301 | Pectus carinatum | 4.6% |
| 302 | Bladder Exstrophy | 4.6% |
| 303 | Epispadias | 4.6% |
| 304 | Xeroderma Pigmentosum | 4.5% |
| 305 | Kallmann Syndrome | 4.5% |
| 306 | Multicystic Dysplastic Kidney | 4.5% |
| 307 | Nasopharyngeal carcinoma | 4.5% |
| 308 | Hyperkeratosis, Epidermolytic | 4.5% |
| 309 | Charcot-Marie-Tooth Disease | 4.5% |
| 310 | Antley-Bixler Syndrome Phenotype | 4.5% |
| 311 | Aortic coarctation | 4.4% |
| 312 | Cor Triatriatum | 4.4% |
| 313 | Coronary Vessel Anomalies | 4.4% |
| 314 | Dental Enamel Hypoplasia | 4.4% |
| 315 | Patent ductus arteriosus | 4.4% |
| 316 | Ebstein Anomaly | 4.4% |
| 317 | Heart Septal Defects | 4.4% |
| 318 | Hypodontia | 4.4% |
| 319 | Macrostomia | 4.4% |
| 320 | Meningocele | 4.4% |
| 321 | Microstomia | 4.4% |
| 322 | Tetralogy of Fallot | 4.4% |
| 323 | Transposition of Great Vessels | 4.4% |
| 324 | Hypoplastic Left Heart Syndrome | 4.4% |
| 325 | May-Thurner Syndrome | 4.4% |
| 326 | Encephalocele | 4.4% |
| 327 | Craniofacial Dysostosis | 4.4% |
| 328 | Wolff-Parkinson-White Syndrome | 4.3% |
| 329 | Retrognathia | 4.3% |
| 330 | Zellweger Syndrome | 4.3% |
| 331 | Dermal Sinus | 4.2% |
| 332 | Spina Bifida Cystica | 4.2% |
| 333 | Spina Bifida Occulta | 4.2% |
| 334 | Lissencephaly | 4.2% |
| 335 | Polymicrogyria | 4.2% |
| 336 | Pachygyria | 4.2% |
| 337 | Schizencephaly | 4.2% |
| 338 | Periventricular Nodular Heterotopia | 4.2% |
| 339 | Abdominal Cramps | 4.2% |
| 340 | Amniotic Band Syndrome | 4.2% |
| 341 | Asphyxia Neonatorum | 4.2% |
| 342 | Infant, Premature, Diseases | 4.2% |
| 343 | Infantile Colic | 4.2% |
| 344 | Tonsillar Neoplasms | 4.2% |
| 345 | Cochlear Diseases | 4.2% |
| 346 | Otitis Externa | 4.2% |
| 347 | Otitis Media | 4.2% |
| 348 | Vestibular Diseases | 4.2% |
| 349 | Endolymphatic Hydrops | 4.2% |
| 350 | Hyperandrogenism | 4.1% |
| 351 | Basal Cell Nevus Syndrome | 4.1% |
| 352 | Tuberous Sclerosis | 4.1% |
| 353 | Prognathism | 4% |
| 354 | Refsum Disease | 4% |
| 355 | Dysacusis | 3.9% |
| 356 | Long QT Syndrome | 3.8% |
| 357 | Platybasia | 3.8% |
| 358 | Tricuspid Atresia | 3.8% |
| 359 | Arrhythmogenic Right Ventricular Dysplasia | 3.8% |
| 360 | Gonadal Dysgenesis | 3.8% |
| 361 | Adrenogenital Syndrome | 3.8% |
| 362 | Ovotesticular Disorders of Sex Development | 3.8% |
| 363 | Eosinophilic Granuloma | 3.8% |
| 364 | Aortopulmonary Septal Defect | 3.6% |
| 365 | Double Outlet Right Ventricle | 3.6% |
| 366 | Endocardial Cushion Defects | 3.6% |
| 367 | Neoplastic Syndromes, Hereditary | 3.6% |
| 368 | Myocardial bridging | 3.6% |
| 369 | Aorticopulmonary Septal Defect | 3.6% |
| 370 | Vestibulocochlear Nerve Diseases | 3.5% |
| 371 | Anemia, Neonatal | 3.5% |
| 372 | Multiple Epiphyseal Dysplasia | 3.5% |
| 373 | Osteochondrodysplasias | 3.5% |
| 374 | Pelger-Huet Anomaly | 3.5% |
| 375 | Werner Syndrome | 3.5% |
| 376 | Myasthenic Syndromes, Congenital | 3.5% |
| 377 | Umbilical hernia | 3.5% |
| 378 | Meniere Disease | 3.4% |
| 379 | Otitis Media with Effusion | 3.4% |
| 380 | Herpes Zoster Oticus | 3.4% |
| 381 | Anemia, Sickle Cell | 3.4% |
| 382 | Thalassemia | 3.4% |
| 383 | Albinism | 3.4% |
| 384 | Muscular Dystrophy, Duchenne | 3.4% |
| 385 | Acoustic Neuroma | 3.3% |
| 386 | Truncus Arteriosus, Persistent | 3.2% |
| 387 | Goldenhar Syndrome | 3.2% |
| 388 | Mandibulofacial Dysostosis | 3.2% |
| 389 | Romano-Ward Syndrome | 3.1% |
| 390 | Dwarfism | 3.1% |
| 391 | Neonatal Abstinence Syndrome | 3% |
| 392 | Mucopolysaccharidosis II | 3% |
| 393 | Fetal Growth Retardation | 3% |
| 394 | Muscular Dystrophy | 3% |
| 395 | Osteogenesis Imperfecta | 3% |
| 396 | Fetal Hypoxia | 3% |
| 397 | Congenital nystagmus | 3% |
| 398 | Fetal Alcohol Spectrum Disorders | 3% |
| 399 | Toxoplasmosis, Congenital | 2.9% |
| 400 | Syphilis, Congenital | 2.9% |
| 401 | Hyperacusis | 2.9% |
| 402 | Tinnitus | 2.9% |
| 403 | Phonophobia | 2.9% |
| 404 | Hearing Loss | 2.9% |
| 405 | Rett Syndrome | 2.9% |
| 406 | Vestibular Neuronitis | 2.9% |
| 407 | Talipes | 2.8% |
| 408 | Menkes Kinky Hair Syndrome | 2.8% |
| 409 | Familial Mediterranean Fever | 2.8% |
| 410 | Lemierre Syndrome | 2.7% |
| 411 | Wiskott-Aldrich Syndrome | 2.7% |
| 412 | Congenital clubfoot | 2.7% |
| 413 | Vertical Talus | 2.7% |
| 414 | Autoimmune Lymphoproliferative Syndrome | 2.6% |
| 415 | Congenital Hyperinsulinism | 2.6% |
| 416 | Chorioamnionitis | 2.6% |
| 417 | Angioedemas, Hereditary | 2.6% |
| 418 | Sickle Cell Trait | 2.5% |
| 419 | Arteriovenous fistula | 2.5% |
| 420 | Vertigo | 2.5% |
| 421 | Myotonic Dystrophy | 2.4% |
| 422 | Neuronal Ceroid-Lipofuscinoses | 2.4% |
| 423 | Mastoiditis | 2.4% |
| 424 | Petrositis | 2.4% |
| 425 | Deafness | 2.4% |
| 426 | Hearing Loss, Sudden | 2.4% |
| 427 | Hearing Loss, Bilateral | 2.4% |
| 428 | Hearing Loss, High-Frequency | 2.4% |
| 429 | Hearing Loss, Mixed Conductive-Sensorineural | 2.4% |
| 430 | Hearing Loss, Unilateral | 2.4% |
| 431 | Complete Hearing Loss | 2.4% |
| 432 | Deaf Mutism | 2.4% |
| 433 | Adrenoleukodystrophy | 2.4% |
| 434 | Paralysis, Obstetric | 2.3% |
| 435 | Retinopathy of Prematurity | 2.3% |
| 436 | Amino Acid Metabolism, Inborn Errors | 2.3% |
| 437 | Carbohydrate Metabolism, Inborn Errors | 2.3% |
| 438 | Metal Metabolism, Inborn Errors | 2.3% |
| 439 | Progeria | 2.3% |
| 440 | Lysosomal Storage Diseases | 2.3% |
| 441 | Cytochrome-c Oxidase Deficiency | 2.3% |
| 442 | Peroxisomal Disorders | 2.3% |
| 443 | Hepatolenticular Degeneration | 2.2% |
| 444 | Fabry Disease | 2.2% |
| 445 | Denys-Drash Syndrome | 2.1% |
| 446 | Amyloid Neuropathies, Familial | 2.1% |
| 447 | Glycogen storage disease type II | 2% |
| 448 | Ophthalmia Neonatorum | 2% |
| 449 | Galactosemias | 2% |
| 450 | Urea Cycle Disorders, Inborn | 2% |
| 451 | Tyrosinemias | 2% |
| 452 | Hydrops Fetalis | 2% |
| 453 | Cutis Laxa | 2% |
| 454 | Retinitis Pigmentosa | 2% |
| 455 | Pigmentary retinopathy | 2% |
| 456 | Porokeratosis | 2% |
| 457 | Keratoderma, Palmoplantar | 2% |
| 458 | Chronic granulomatous disease | 2% |
| 459 | Welander Distal Myopathy | 1.9% |
| 460 | Ataxia Telangiectasia | 1.9% |
| 461 | Mucopolysaccharidosis III | 1.8% |
| 462 | Optic Atrophy, Hereditary, Leber | 1.8% |
| 463 | Hyperphosphaturia | 1.8% |
| 464 | Canavan Disease | 1.8% |
| 465 | Alexander Disease | 1.8% |
| 466 | Duane Retraction Syndrome | 1.7% |
| 467 | Porphyrias, Hepatic | 1.7% |
| 468 | Alkaptonuria | 1.7% |
| 469 | Glycogen Storage Disease | 1.7% |
| 470 | Hypophosphatasia | 1.7% |
| 471 | Propionic acidemia | 1.7% |
| 472 | Dihydropyrimidine Dehydrogenase Deficiency | 1.7% |
| 473 | Cystinosis | 1.7% |
| 474 | Peutz-Jeghers Syndrome | 1.7% |
| 475 | Myotonia Congenita | 1.7% |
| 476 | Thrombasthenia | 1.7% |
| 477 | Antithrombin III Deficiency | 1.7% |
| 478 | Protein C Deficiency | 1.7% |
| 479 | Brain Diseases, Metabolic, Inborn | 1.7% |
| 480 | Afibrinogenemia | 1.7% |
| 481 | Dystonia Musculorum Deformans | 1.7% |
| 482 | Factor VII Deficiency | 1.7% |
| 483 | Factor X Deficiency | 1.7% |
| 484 | Factor XII Deficiency | 1.7% |
| 485 | Hemophilia A | 1.7% |
| 486 | Leukomalacia, Periventricular | 1.7% |
| 487 | Activated Protein C Resistance | 1.7% |
| 488 | Factor II deficiency | 1.7% |
| 489 | Factor VIII Deficiency | 1.7% |
| 490 | Factor V deficiency | 1.7% |
| 491 | Factor XI Deficiency | 1.7% |
| 492 | Hypoprothrombinemias | 1.7% |
| 493 | Gaucher Disease | 1.7% |
| 494 | Fanconi Anemia | 1.7% |
| 495 | Nesidioblastosis | 1.7% |
| 496 | Lafora Disease | 1.7% |
| 497 | Unverricht-Lundborg Syndrome | 1.7% |
| 498 | Anemia, Diamond-Blackfan | 1.7% |
| 499 | Auditory Perceptual Disorders | 1.7% |
| 500 | Homocystinuria | 1.7% |
| 501 | Leigh Disease | 1.7% |
| 502 | Multiple Endocrine Neoplasia | 1.6% |
| 503 | Tay-Sachs Disease | 1.5% |
| 504 | Congenital Hypothyroidism | 1.5% |
| 505 | Dermatitis, Atopic | 1.5% |
| 506 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 1.5% |
| 507 | Niemann-Pick Disease, Type C | 1.5% |
| 508 | Hypolipoproteinemias | 1.4% |
| 509 | Papillon-Lefevre Disease | 1.4% |
| 510 | Hyperlipidemia, Familial Combined | 1.4% |
| 511 | Hyperlipoproteinemia Type III | 1.4% |
| 512 | Glycogen Storage Disease Type I | 1.4% |
| 513 | Glycogen Storage Disease Type V | 1.4% |
| 514 | Kernicterus | 1.4% |
| 515 | Behcet Syndrome | 1.4% |
| 516 | Familial Periodic Paralysis | 1.3% |
| 517 | Lactose Intolerance | 1.3% |
| 518 | Variegate Porphyria | 1.3% |
| 519 | Acute intermittent porphyria | 1.3% |
| 520 | Porphyria Cutanea Tarda | 1.3% |
| 521 | Hyperhomocysteinemia | 1.3% |
| 522 | Renal Aminoacidurias | 1.3% |
| 523 | Fanconi Syndrome | 1.3% |
| 524 | Pseudohypoaldosteronism | 1.3% |
| 525 | Liddle Syndrome | 1.3% |
| 526 | Hyperlipoproteinemia Type IV | 1.3% |
| 527 | Hyperlipoproteinemia Type V | 1.3% |
| 528 | Huntington Disease | 1.2% |
| 529 | Hypoalphalipoproteinemias | 1.2% |
| 530 | Gout | 1.1% |
| 531 | Multiple Endocrine Neoplasia Type 1 | 1.1% |
| 532 | Pseudohypoparathyroidism | 1.1% |
| 533 | Friedreich Ataxia | 1.1% |
| 534 | Nephroblastoma | 1.1% |
| 535 | Renal tubular acidosis | 1.1% |
| 536 | Hypokalemic periodic paralysis | 1.1% |
| 537 | Cystinuria | 1% |
| 538 | Adenomatous Polyposis Coli | 1% |
| 539 | Familial Hypophosphatemic Rickets | 1% |
| 540 | Arthritis, Gouty | 0.9% |
| 541 | Glycosuria, Renal | 0.9% |
| 542 | MELAS Syndrome | 0.8% |