| 1 | Acrocephalosyndactylia | 58.1% |
| 2 | Craniosynostosis | 42.8% |
| 3 | Brachycephaly | 42.8% |
| 4 | Klippel-Feil Syndrome | 37.4% |
| 5 | Pectus excavatum | 37.2% |
| 6 | Arthrogryposis | 36.1% |
| 7 | Pectus carinatum | 34.8% |
| 8 | Craniofacial Abnormalities | 32.2% |
| 9 | Antley-Bixler Syndrome Phenotype | 30.4% |
| 10 | Amelia | 30% |
| 11 | Arachnodactyly | 30% |
| 12 | Ectromelia | 30% |
| 13 | Hemimelia | 30% |
| 14 | Phocomelia | 30% |
| 15 | Sirenomelia | 30% |
| 16 | Polydactyly | 30% |
| 17 | Brachydactyly | 30% |
| 18 | Lower Extremity Deformities, Congenital | 30% |
| 19 | Upper Extremity Deformities, Congenital | 30% |
| 20 | Gastroschisis | 28.2% |
| 21 | Platybasia | 27.3% |
| 22 | Rubinstein-Taybi Syndrome | 26.8% |
| 23 | Craniofacial Dysostosis | 25.7% |
| 24 | Holoprosencephaly | 23.1% |
| 25 | Maxillofacial Abnormalities | 20.4% |
| 26 | Plagiocephaly | 18.9% |
| 27 | Talipes | 17.4% |
| 28 | Osteoarthropathy, Secondary Hypertrophic | 17.4% |
| 29 | Limb Deformities, Congenital | 17.1% |
| 30 | Microcephaly | 16.9% |
| 31 | Macrocephaly | 16.9% |
| 32 | Synostosis | 16.6% |
| 33 | Laryngomalacia | 16.4% |
| 34 | Osteochondritis | 15.2% |
| 35 | Marfan Syndrome | 15.1% |
| 36 | Jaw Abnormalities | 15% |
| 37 | Syndactyly | 15% |
| 38 | Noonan Syndrome | 14.9% |
| 39 | Mandibulofacial Dysostosis | 14.8% |
| 40 | Abnormalities, Drug-Induced | 14.6% |
| 41 | Situs Inversus | 14.6% |
| 42 | Fasciitis | 14.5% |
| 43 | Foot Deformities | 14.5% |
| 44 | Arthropathy | 14.5% |
| 45 | Multiple Epiphyseal Dysplasia | 14.3% |
| 46 | Osteochondrodysplasias | 14.3% |
| 47 | Beckwith-Wiedemann Syndrome | 14.2% |
| 48 | Wolf-Hirschhorn Syndrome | 14.2% |
| 49 | Nail-Patella Syndrome | 14% |
| 50 | Gigantism | 14% |
| 51 | Aicardi's syndrome | 13.8% |
| 52 | Contracture | 13.4% |
| 53 | Fasciitis, Plantar | 13.4% |
| 54 | Congenital clubfoot | 13.2% |
| 55 | Vertical Talus | 13.2% |
| 56 | Eye Abnormalities | 12.9% |
| 57 | Cardiovascular Abnormalities | 12.9% |
| 58 | Dwarfism | 12.9% |
| 59 | Jaw Diseases | 12.8% |
| 60 | Smith-Magenis syndrome | 12.7% |
| 61 | Skin Abnormalities | 12.7% |
| 62 | Lymphatic Abnormalities | 12.7% |
| 63 | Congenital Microtia | 12.7% |
| 64 | Cri-du-Chat Syndrome | 12.6% |
| 65 | Down Syndrome | 12.6% |
| 66 | Trisomy 21 | 12.6% |
| 67 | Cartilage Diseases | 12.6% |
| 68 | Foot Diseases | 12.6% |
| 69 | Myopathy | 12.6% |
| 70 | Rheumatism | 12.6% |
| 71 | Chondromalacia | 12.6% |
| 72 | Congenital diaphragmatic hernia | 12.5% |
| 73 | Hyperostosis | 12.3% |
| 74 | Osteitis | 12.3% |
| 75 | Osteitis Deformans | 12.3% |
| 76 | Osteochondrosis | 12.3% |
| 77 | Spinal Diseases | 12.3% |
| 78 | Goldenhar Syndrome | 12% |
| 79 | Porencephaly | 11.8% |
| 80 | Fibromyalgia | 11.7% |
| 81 | Polymyalgia Rheumatica | 11.7% |
| 82 | Metatarsalgia | 11.7% |
| 83 | Ectodermal Dysplasia | 11.4% |
| 84 | Aplasia Cutis Congenita | 11.4% |
| 85 | Urogenital Abnormalities | 11.4% |
| 86 | Prader-Willi Syndrome | 11.3% |
| 87 | Cockayne Syndrome | 11.2% |
| 88 | Gout | 11% |
| 89 | Basal Cell Nevus Syndrome | 10.9% |
| 90 | Bone Diseases, Endocrine | 10.9% |
| 91 | Bone Diseases, Infectious | 10.7% |
| 92 | Bone neoplasms | 10.7% |
| 93 | Osteopenia | 10.7% |
| 94 | Prognathism | 10.6% |
| 95 | Bone Resorption | 10.6% |
| 96 | Aseptic Necrosis of Bone | 10.6% |
| 97 | Bronchomalacia | 10.5% |
| 98 | Tracheomalacia | 10.5% |
| 99 | Spinal Neoplasms | 10.3% |
| 100 | Spondylitis | 10.3% |
| 101 | Micrognathism | 10.1% |
| 102 | Pierre Robin Syndrome | 10.1% |
| 103 | Cleft Palate | 10% |
| 104 | Congenital Hypothyroidism | 10% |
| 105 | Bone Diseases | 10% |
| 106 | Poland Syndrome | 9.9% |
| 107 | CHARGE Syndrome | 9.8% |
| 108 | Anencephaly | 9.7% |
| 109 | Genetic Diseases, Inborn | 9.4% |
| 110 | Kartagener Syndrome | 9.3% |
| 111 | Retrognathia | 9.3% |
| 112 | Temporomandibular Joint Disorders | 9.2% |
| 113 | Rheumatic Fever | 9.2% |
| 114 | Ischemic contracture | 8.9% |
| 115 | Osteogenesis Imperfecta | 8.9% |
| 116 | Abnormalities, Radiation-Induced | 8.8% |
| 117 | Xeroderma | 8.7% |
| 118 | Mobius Syndrome | 8.7% |
| 119 | Dural Arteriovenous Fistula | 8.7% |
| 120 | Dextrocardia | 8.6% |
| 121 | Osteoarthritis, Spine | 8.6% |
| 122 | Rheumatoid Arthritis | 8.2% |
| 123 | Juvenile arthritis | 8.2% |
| 124 | Fetal Diseases | 8.1% |
| 125 | Prune Belly Syndrome | 8% |
| 126 | Twins, Conjoined | 8% |
| 127 | Waardenburg Syndrome | 8% |
| 128 | Arthritis | 7.7% |
| 129 | Bursitis | 7.7% |
| 130 | Joint Instability | 7.7% |
| 131 | Myofascial Pain Syndromes | 7.7% |
| 132 | Rhabdomyolysis | 7.7% |
| 133 | Synovitis | 7.7% |
| 134 | Joint laxity | 7.7% |
| 135 | Polyarthritis | 7.7% |
| 136 | Frozen shoulder | 7.7% |
| 137 | Patellofemoral Pain Syndrome | 7.7% |
| 138 | Hip Contracture | 7.6% |
| 139 | Periarthritis | 7.6% |
| 140 | Temporomandibular Joint Dysfunction Syndrome | 7.5% |
| 141 | Eosinophilic Granuloma | 7.4% |
| 142 | Scimitar Syndrome | 7.2% |
| 143 | Polycystic Kidney Diseases | 7.2% |
| 144 | Williams Syndrome | 7.2% |
| 145 | Muscular Dystrophy | 7% |
| 146 | Anophthalmos | 7% |
| 147 | Anus, Imperforate | 7% |
| 148 | Hydranencephaly | 7% |
| 149 | Microphthalmos | 7% |
| 150 | Neural Tube Defects | 7% |
| 151 | Tethered Cord Syndrome | 7% |
| 152 | Iniencephaly | 7% |
| 153 | Craniorachischisis | 7% |
| 154 | Exencephaly | 7% |
| 155 | Septo-Optic Dysplasia | 7% |
| 156 | Cortical Dysplasia | 7% |
| 157 | Malformations of Cortical Development | 7% |
| 158 | Anorectal Malformations | 7% |
| 159 | Bloom Syndrome | 6.9% |
| 160 | Ainhum | 6.8% |
| 161 | Spinal Stenosis | 6.8% |
| 162 | Spondylosis | 6.8% |
| 163 | Intervertebral Disc Degeneration | 6.8% |
| 164 | Chondrodysplasia Punctata | 6.8% |
| 165 | Enchondromatosis | 6.8% |
| 166 | Osteosclerosis | 6.8% |
| 167 | Kashin-Beck Disease | 6.8% |
| 168 | Compartment syndromes | 6.7% |
| 169 | Maxillary Diseases | 6.7% |
| 170 | Tendinitis | 6.7% |
| 171 | Tendinopathy | 6.7% |
| 172 | Cystic Fibrosis | 6.7% |
| 173 | Alstrom Syndrome | 6.7% |
| 174 | Arthritis, Gouty | 6.7% |
| 175 | Retinal Dysplasia | 6.7% |
| 176 | Hemarthrosis | 6.6% |
| 177 | Myositis | 6.6% |
| 178 | Tietze's Syndrome | 6.6% |
| 179 | Isaacs syndrome | 6.6% |
| 180 | Myotonic Disorders | 6.6% |
| 181 | Aniridia | 6.6% |
| 182 | Epidermolysis Bullosa | 6.5% |
| 183 | Ankylosing spondylitis | 6.4% |
| 184 | Myotonic Dystrophy | 6.3% |
| 185 | Ichthyosis, X-Linked | 6.3% |
| 186 | Familial Periodic Paralysis | 6.2% |
| 187 | Discitis | 6.2% |
| 188 | Osteoarthritis, Knee | 6.2% |
| 189 | Blepharophimosis | 6.2% |
| 190 | Laryngostenosis | 6.2% |
| 191 | Mouth Abnormalities | 6.2% |
| 192 | Smith-Lemli-Opitz Syndrome | 6.1% |
| 193 | Esophageal Atresia | 6.1% |
| 194 | Intestinal Atresia | 6.1% |
| 195 | Horseshoe Kidney | 6.1% |
| 196 | Acrodermatitis | 6.1% |
| 197 | Lymphangiectasis, Intestinal | 6.1% |
| 198 | Gianotti-Crosti Syndrome | 6.1% |
| 199 | Meconium Aspiration Syndrome | 6% |
| 200 | Osteomyelitis | 5.9% |
| 201 | Osteoporosis | 5.9% |
| 202 | Periostitis | 5.9% |
| 203 | Bone Demineralization, Pathologic | 5.9% |
| 204 | Post-Traumatic Osteoporosis | 5.9% |
| 205 | Medial Tibial Stress Syndrome | 5.9% |
| 206 | Alveolar Bone Loss | 5.9% |
| 207 | Femur Head Necrosis | 5.9% |
| 208 | Osteolysis | 5.9% |
| 209 | Mitochondrial Myopathies | 5.8% |
| 210 | Muscle Cramp | 5.8% |
| 211 | Eosinophilia-Myalgia Syndrome | 5.8% |
| 212 | Fragile X Syndrome | 5.8% |
| 213 | Muscle Rigidity | 5.8% |
| 214 | Muscle Spasticity | 5.8% |
| 215 | Cogwheel Rigidity | 5.8% |
| 216 | Nuchal Rigidity | 5.8% |
| 217 | Arthritis, Psoriatic | 5.7% |
| 218 | Choanal Atresia | 5.5% |
| 219 | Tracheobronchomegaly | 5.5% |
| 220 | Laryngocele | 5.5% |
| 221 | Tuberculosis, Spinal | 5.5% |
| 222 | Choledochal Cyst | 5.5% |
| 223 | Hermaphroditism | 5.5% |
| 224 | Disorders of Sex Development | 5.5% |
| 225 | Pseudoxanthoma Elasticum | 5.5% |
| 226 | Muscular Dystrophy, Duchenne | 5.5% |
| 227 | Cryptorchidism | 5.5% |
| 228 | Hypospadias | 5.5% |
| 229 | Central Nervous System Cysts | 5.4% |
| 230 | Rheumatoid Nodule | 5.4% |
| 231 | Dandy-Walker Syndrome | 5.4% |
| 232 | Bone Diseases, Developmental | 5.4% |
| 233 | POEMS Syndrome | 5.4% |
| 234 | Chronic Fatigue Syndrome | 5.3% |
| 235 | Primary Ciliary Dyskinesia | 5.3% |
| 236 | Giant Cell Epulis | 5.2% |
| 237 | Muscle Weakness | 5.2% |
| 238 | Turner Syndrome | 5.2% |
| 239 | Musculoskeletal Pain | 5.2% |
| 240 | Acromegaly | 5.1% |
| 241 | Joint Tuberculosis | 5.1% |
| 242 | Tuberculosis, Osteoarticular | 5.1% |
| 243 | Bone Tuberculosis | 5.1% |
| 244 | Arthralgia | 5.1% |
| 245 | Polyarthralgia | 5.1% |
| 246 | Pseudohypoparathyroidism | 5.1% |
| 247 | Xeroderma Pigmentosum | 5.1% |
| 248 | Bladder Exstrophy | 4.9% |
| 249 | Epispadias | 4.9% |
| 250 | Multicystic Dysplastic Kidney | 4.9% |
| 251 | Abdominal Cramps | 4.9% |
| 252 | Amniotic Band Syndrome | 4.9% |
| 253 | Asphyxia Neonatorum | 4.9% |
| 254 | Infant, Premature, Diseases | 4.9% |
| 255 | Infantile Colic | 4.9% |
| 256 | Felty Syndrome | 4.8% |
| 257 | Sjogren-Larsson Syndrome | 4.8% |
| 258 | Spondylarthropathies | 4.8% |
| 259 | Myotonia Congenita | 4.8% |
| 260 | Arthritis, Reactive | 4.6% |
| 261 | Myalgia | 4.6% |
| 262 | Rickets | 4.6% |
| 263 | Zellweger Syndrome | 4.5% |
| 264 | Bunion | 4.4% |
| 265 | Fibrodysplasia Ossificans Progressiva | 4.4% |
| 266 | Myoglobinuria | 4.4% |
| 267 | Myositis Ossificans | 4.4% |
| 268 | Tenosynovitis | 4.4% |
| 269 | Sacroiliitis | 4.4% |
| 270 | Kallmann Syndrome | 4.4% |
| 271 | Melorheostosis | 4.4% |
| 272 | Osteopetrosis | 4.4% |
| 273 | Rheumatoid Vasculitis | 4.4% |
| 274 | Neoplastic Syndromes, Hereditary | 4.3% |
| 275 | Classical Lissencephalies and Subcortical Band Heterotopias | 4.3% |
| 276 | Polycystic Kidney, Autosomal Dominant | 4.3% |
| 277 | Anemia, Neonatal | 4.2% |
| 278 | Pelger-Huet Anomaly | 4.2% |
| 279 | Persistent Fetal Circulation Syndrome | 4.2% |
| 280 | Werner Syndrome | 4.2% |
| 281 | Myasthenic Syndromes, Congenital | 4.2% |
| 282 | Umbilical hernia | 4.2% |
| 283 | Ectopia Cordis | 4.1% |
| 284 | Meningomyelocele | 4.1% |
| 285 | Spina Bifida | 4.1% |
| 286 | Single umbilical artery | 4.1% |
| 287 | Lordosis | 4.1% |
| 288 | Spondylolysis | 4.1% |
| 289 | kyphosis | 4.1% |
| 290 | Welander Distal Myopathy | 4.1% |
| 291 | Sicca Syndrome | 4% |
| 292 | Sjogren's Syndrome | 4% |
| 293 | Palatal Neoplasms | 4% |
| 294 | Charcot-Marie-Tooth Disease | 3.9% |
| 295 | Arthritis, Infectious | 3.8% |
| 296 | Anterior Compartment Syndrome | 3.8% |
| 297 | Enthesopathy | 3.8% |
| 298 | Arthritis, Experimental | 3.8% |
| 299 | Abdominal Compartment Syndrome | 3.8% |
| 300 | Tuberous Sclerosis | 3.8% |
| 301 | Polymyositis | 3.8% |
| 302 | Neonatal Abstinence Syndrome | 3.7% |
| 303 | Klinefelter Syndrome | 3.7% |
| 304 | Fetal Growth Retardation | 3.7% |
| 305 | Fetal Hypoxia | 3.7% |
| 306 | Congenital nystagmus | 3.7% |
| 307 | Fetal Alcohol Spectrum Disorders | 3.7% |
| 308 | Hypokalemic periodic paralysis | 3.7% |
| 309 | Toxoplasmosis, Congenital | 3.6% |
| 310 | Aortic coarctation | 3.6% |
| 311 | Cor Triatriatum | 3.6% |
| 312 | Coronary Vessel Anomalies | 3.6% |
| 313 | Dental Enamel Hypoplasia | 3.6% |
| 314 | Patent ductus arteriosus | 3.6% |
| 315 | Ebstein Anomaly | 3.6% |
| 316 | Heart Septal Defects | 3.6% |
| 317 | Hypodontia | 3.6% |
| 318 | Macrostomia | 3.6% |
| 319 | Meningocele | 3.6% |
| 320 | Microstomia | 3.6% |
| 321 | Syphilis, Congenital | 3.6% |
| 322 | Tetralogy of Fallot | 3.6% |
| 323 | Transposition of Great Vessels | 3.6% |
| 324 | Hypoplastic Left Heart Syndrome | 3.6% |
| 325 | May-Thurner Syndrome | 3.6% |
| 326 | Encephalocele | 3.6% |
| 327 | Refsum Disease | 3.6% |
| 328 | Wolff-Parkinson-White Syndrome | 3.6% |
| 329 | Anemia, Sickle Cell | 3.6% |
| 330 | Thalassemia | 3.6% |
| 331 | Osteoporosis, Postmenopausal | 3.5% |
| 332 | Albinism | 3.5% |
| 333 | Hyperkeratosis, Epidermolytic | 3.5% |
| 334 | Hip Dislocation | 3.4% |
| 335 | Shoulder Dislocation | 3.4% |
| 336 | Hip Dysplasia | 3.4% |
| 337 | Orbital Myositis | 3.4% |
| 338 | Dupuytren Contracture | 3.3% |
| 339 | Pyomyositis | 3.3% |
| 340 | Autoimmune Lymphoproliferative Syndrome | 3.3% |
| 341 | Congenital Hyperinsulinism | 3.3% |
| 342 | Chorioamnionitis | 3.3% |
| 343 | Angioedemas, Hereditary | 3.2% |
| 344 | Long QT Syndrome | 3.2% |
| 345 | Tricuspid Atresia | 3.2% |
| 346 | Arrhythmogenic Right Ventricular Dysplasia | 3.2% |
| 347 | Gonadal Dysgenesis | 3.2% |
| 348 | Adrenogenital Syndrome | 3.2% |
| 349 | Ovotesticular Disorders of Sex Development | 3.2% |
| 350 | Dysostoses | 3.2% |
| 351 | Mastoiditis | 3.1% |
| 352 | Petrositis | 3.1% |
| 353 | Hyperandrogenism | 3% |
| 354 | Wiskott-Aldrich Syndrome | 2.9% |
| 355 | Shoulder Pain | 2.9% |
| 356 | Spondylolisthesis | 2.8% |
| 357 | Osteomalacia | 2.8% |
| 358 | Dermal Sinus | 2.7% |
| 359 | Spina Bifida Cystica | 2.7% |
| 360 | Spina Bifida Occulta | 2.7% |
| 361 | Lissencephaly | 2.7% |
| 362 | Polymicrogyria | 2.7% |
| 363 | Pachygyria | 2.7% |
| 364 | Schizencephaly | 2.7% |
| 365 | Periventricular Nodular Heterotopia | 2.7% |
| 366 | Familial Mediterranean Fever | 2.7% |
| 367 | Mitochondrial Encephalomyopathies | 2.7% |
| 368 | Ophthalmia Neonatorum | 2.6% |
| 369 | Menkes Kinky Hair Syndrome | 2.6% |
| 370 | Ataxia Telangiectasia | 2.5% |
| 371 | Mucopolysaccharidosis II | 2.5% |
| 372 | Aortopulmonary Septal Defect | 2.4% |
| 373 | Double Outlet Right Ventricle | 2.4% |
| 374 | Endocardial Cushion Defects | 2.4% |
| 375 | Rett Syndrome | 2.4% |
| 376 | Myocardial bridging | 2.4% |
| 377 | Aorticopulmonary Septal Defect | 2.4% |
| 378 | Paralysis, Obstetric | 2.3% |
| 379 | Retinopathy of Prematurity | 2.3% |
| 380 | Amino Acid Metabolism, Inborn Errors | 2.3% |
| 381 | Carbohydrate Metabolism, Inborn Errors | 2.3% |
| 382 | Metal Metabolism, Inborn Errors | 2.3% |
| 383 | Progeria | 2.3% |
| 384 | Lysosomal Storage Diseases | 2.3% |
| 385 | Cytochrome-c Oxidase Deficiency | 2.3% |
| 386 | Peroxisomal Disorders | 2.3% |
| 387 | Bronchopulmonary Dysplasia | 2.3% |
| 388 | Neuronal Ceroid-Lipofuscinoses | 2.3% |
| 389 | Hepatolenticular Degeneration | 2.2% |
| 390 | Amyloid Neuropathies, Familial | 2.1% |
| 391 | Nose Neoplasms | 2.1% |
| 392 | Adrenoleukodystrophy | 2.1% |
| 393 | Romano-Ward Syndrome | 2.1% |
| 394 | Sickle Cell Trait | 2.1% |
| 395 | Renal Osteodystrophy | 2.1% |
| 396 | Renal rickets | 2.1% |
| 397 | Respiratory Distress Syndrome, Newborn | 2.1% |
| 398 | Cutis Laxa | 2% |
| 399 | Retinitis Pigmentosa | 2% |
| 400 | Pigmentary retinopathy | 2% |
| 401 | Porokeratosis | 2% |
| 402 | Keratoderma, Palmoplantar | 2% |
| 403 | Chronic granulomatous disease | 2% |
| 404 | Dermatomyositis | 1.9% |
| 405 | Hydrops Fetalis | 1.9% |
| 406 | MELAS Syndrome | 1.9% |
| 407 | Duane Retraction Syndrome | 1.8% |
| 408 | Porphyrias, Hepatic | 1.8% |
| 409 | Peutz-Jeghers Syndrome | 1.8% |
| 410 | Thrombasthenia | 1.8% |
| 411 | Antithrombin III Deficiency | 1.8% |
| 412 | Protein C Deficiency | 1.8% |
| 413 | Brain Diseases, Metabolic, Inborn | 1.8% |
| 414 | Afibrinogenemia | 1.8% |
| 415 | Dystonia Musculorum Deformans | 1.8% |
| 416 | Factor VII Deficiency | 1.8% |
| 417 | Factor X Deficiency | 1.8% |
| 418 | Factor XII Deficiency | 1.8% |
| 419 | Hemophilia A | 1.8% |
| 420 | Leukomalacia, Periventricular | 1.8% |
| 421 | Activated Protein C Resistance | 1.8% |
| 422 | Factor II deficiency | 1.8% |
| 423 | Factor VIII Deficiency | 1.8% |
| 424 | Factor V deficiency | 1.8% |
| 425 | Factor XI Deficiency | 1.8% |
| 426 | Hypoprothrombinemias | 1.8% |
| 427 | Truncus Arteriosus, Persistent | 1.8% |
| 428 | Fanconi Anemia | 1.8% |
| 429 | Nesidioblastosis | 1.8% |
| 430 | Lafora Disease | 1.8% |
| 431 | Unverricht-Lundborg Syndrome | 1.8% |
| 432 | Anemia, Diamond-Blackfan | 1.8% |
| 433 | Acute Chest Syndrome | 1.8% |
| 434 | Fabry Disease | 1.8% |
| 435 | Arteriovenous fistula | 1.8% |
| 436 | Galactosemias | 1.7% |
| 437 | Urea Cycle Disorders, Inborn | 1.7% |
| 438 | Tyrosinemias | 1.7% |
| 439 | Canavan Disease | 1.7% |
| 440 | Alexander Disease | 1.7% |
| 441 | Familial Hypophosphatemic Rickets | 1.7% |
| 442 | Denys-Drash Syndrome | 1.7% |
| 443 | Multiple Endocrine Neoplasia | 1.7% |
| 444 | Dermatitis, Atopic | 1.6% |
| 445 | Optic Atrophy, Hereditary, Leber | 1.6% |
| 446 | Hyperphosphaturia | 1.6% |
| 447 | Kernicterus | 1.5% |
| 448 | Behcet Syndrome | 1.5% |
| 449 | Glycogen storage disease type II | 1.5% |
| 450 | Alkaptonuria | 1.4% |
| 451 | Glycogen Storage Disease | 1.4% |
| 452 | Hypophosphatasia | 1.4% |
| 453 | Propionic acidemia | 1.4% |
| 454 | Dihydropyrimidine Dehydrogenase Deficiency | 1.4% |
| 455 | Cystinosis | 1.4% |
| 456 | Huntington Disease | 1.4% |
| 457 | Homocystinuria | 1.3% |
| 458 | Leigh Disease | 1.3% |
| 459 | Mucopolysaccharidosis III | 1.3% |
| 460 | Nephroblastoma | 1.2% |
| 461 | Hyaline Membrane Disease | 1.2% |
| 462 | Hypolipoproteinemias | 1.2% |
| 463 | Papillon-Lefevre Disease | 1.2% |
| 464 | Radicular Cyst | 1.2% |
| 465 | Hyperlipidemia, Familial Combined | 1.2% |
| 466 | Hyperlipoproteinemia Type III | 1.2% |
| 467 | Adenomatous Polyposis Coli | 1.1% |
| 468 | Kearns-Sayre syndrome | 1.1% |
| 469 | Lactose Intolerance | 1.1% |
| 470 | Variegate Porphyria | 1.1% |
| 471 | Acute intermittent porphyria | 1.1% |
| 472 | Porphyria Cutanea Tarda | 1.1% |
| 473 | Hyperhomocysteinemia | 1.1% |
| 474 | Renal Aminoacidurias | 1.1% |
| 475 | Fanconi Syndrome | 1.1% |
| 476 | Pseudohypoaldosteronism | 1.1% |
| 477 | Liddle Syndrome | 1.1% |
| 478 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 1.1% |
| 479 | Hyperlipoproteinemia Type IV | 1.1% |
| 480 | Hyperlipoproteinemia Type V | 1.1% |
| 481 | Gaucher Disease | 1% |
| 482 | Multiple Endocrine Neoplasia Type 1 | 1% |
| 483 | Friedreich Ataxia | 1% |
| 484 | Renal tubular acidosis | 1% |
| 485 | Glycogen Storage Disease Type I | 0.9% |
| 486 | Glycogen Storage Disease Type V | 0.9% |
| 487 | Glycosuria, Renal | 0.8% |
| 488 | Hypoalphalipoproteinemias | 0.8% |
| 489 | Niemann-Pick Disease, Type C | 0.8% |
| 490 | Tay-Sachs Disease | 0.8% |
| 491 | Cystinuria | 0.7% |