| 1 | Syndactyly | 57.7% |
| 2 | Craniofacial Dysostosis | 46.8% |
| 3 | Platybasia | 46.4% |
| 4 | Klippel-Feil Syndrome | 45.8% |
| 5 | Pectus excavatum | 44.7% |
| 6 | Arthrogryposis | 43.2% |
| 7 | Rubinstein-Taybi Syndrome | 42.8% |
| 8 | Poland Syndrome | 42.8% |
| 9 | Pectus carinatum | 41.6% |
| 10 | Antley-Bixler Syndrome Phenotype | 41.1% |
| 11 | Plagiocephaly | 40.3% |
| 12 | Limb Deformities, Congenital | 39% |
| 13 | Holoprosencephaly | 38.4% |
| 14 | Acrocephalosyndactylia | 38.4% |
| 15 | Maxillofacial Abnormalities | 38.3% |
| 16 | Microcephaly | 34.5% |
| 17 | Macrocephaly | 34.5% |
| 18 | Gastroschisis | 34% |
| 19 | Mandibulofacial Dysostosis | 30.5% |
| 20 | Noonan Syndrome | 29.5% |
| 21 | Jaw Abnormalities | 27.9% |
| 22 | Goldenhar Syndrome | 27.9% |
| 23 | Porencephaly | 26.4% |
| 24 | Amelia | 25.4% |
| 25 | Arachnodactyly | 25.4% |
| 26 | Ectromelia | 25.4% |
| 27 | Hemimelia | 25.4% |
| 28 | Phocomelia | 25.4% |
| 29 | Sirenomelia | 25.4% |
| 30 | Polydactyly | 25.4% |
| 31 | Brachydactyly | 25.4% |
| 32 | Lower Extremity Deformities, Congenital | 25.4% |
| 33 | Upper Extremity Deformities, Congenital | 25.4% |
| 34 | Micrognathism | 21.5% |
| 35 | Pierre Robin Syndrome | 21.5% |
| 36 | Prognathism | 20.9% |
| 37 | Craniofacial Abnormalities | 20.6% |
| 38 | Synostosis | 20.4% |
| 39 | Craniosynostosis | 20.2% |
| 40 | Brachycephaly | 20.2% |
| 41 | Osteoarthropathy, Secondary Hypertrophic | 20% |
| 42 | Retrognathia | 19.8% |
| 43 | Cleft Palate | 19.8% |
| 44 | Talipes | 19.7% |
| 45 | Laryngomalacia | 19.7% |
| 46 | Marfan Syndrome | 18.2% |
| 47 | Osteochondritis | 17.5% |
| 48 | Beckwith-Wiedemann Syndrome | 17.2% |
| 49 | Wolf-Hirschhorn Syndrome | 17.2% |
| 50 | Gigantism | 16.8% |
| 51 | Multiple Epiphyseal Dysplasia | 16.8% |
| 52 | Osteochondrodysplasias | 16.8% |
| 53 | Abnormalities, Drug-Induced | 16.5% |
| 54 | Situs Inversus | 16.5% |
| 55 | Nail-Patella Syndrome | 16.5% |
| 56 | Aicardi's syndrome | 16.3% |
| 57 | Congenital clubfoot | 16.1% |
| 58 | Vertical Talus | 16.1% |
| 59 | Fasciitis | 16.1% |
| 60 | Foot Deformities | 16.1% |
| 61 | Arthropathy | 16.1% |
| 62 | Contracture | 15.8% |
| 63 | Fasciitis, Plantar | 15.8% |
| 64 | Smith-Magenis syndrome | 15.5% |
| 65 | Cri-du-Chat Syndrome | 15.3% |
| 66 | Down Syndrome | 15.3% |
| 67 | Trisomy 21 | 15.3% |
| 68 | Dwarfism | 15.1% |
| 69 | Eye Abnormalities | 14.6% |
| 70 | Cardiovascular Abnormalities | 14.6% |
| 71 | Skin Abnormalities | 14.3% |
| 72 | Lymphatic Abnormalities | 14.3% |
| 73 | Congenital Microtia | 14.3% |
| 74 | Jaw Diseases | 14.1% |
| 75 | Congenital diaphragmatic hernia | 14.1% |
| 76 | Hyperostosis | 14% |
| 77 | Osteitis | 14% |
| 78 | Osteitis Deformans | 14% |
| 79 | Osteochondrosis | 14% |
| 80 | Spinal Diseases | 14% |
| 81 | Bronchomalacia | 14% |
| 82 | Tracheomalacia | 14% |
| 83 | Cockayne Syndrome | 13.9% |
| 84 | Cartilage Diseases | 13.9% |
| 85 | Foot Diseases | 13.9% |
| 86 | Myopathy | 13.9% |
| 87 | Rheumatism | 13.9% |
| 88 | Chondromalacia | 13.9% |
| 89 | Ectodermal Dysplasia | 13.8% |
| 90 | Aplasia Cutis Congenita | 13.8% |
| 91 | Fibromyalgia | 13.8% |
| 92 | Polymyalgia Rheumatica | 13.8% |
| 93 | Prader-Willi Syndrome | 13.7% |
| 94 | Metatarsalgia | 13.7% |
| 95 | Gout | 13.7% |
| 96 | Basal Cell Nevus Syndrome | 13.3% |
| 97 | Urogenital Abnormalities | 12.8% |
| 98 | Spinal Neoplasms | 12.7% |
| 99 | Spondylitis | 12.7% |
| 100 | Congenital Hypothyroidism | 12.6% |
| 101 | Bone Diseases, Endocrine | 12.4% |
| 102 | Anencephaly | 12.3% |
| 103 | Bone Diseases, Infectious | 12.2% |
| 104 | Bone neoplasms | 12.2% |
| 105 | Osteopenia | 12.2% |
| 106 | Kartagener Syndrome | 12.1% |
| 107 | Osteoarthritis, Spine | 12.1% |
| 108 | Bone Resorption | 12.1% |
| 109 | Aseptic Necrosis of Bone | 12.1% |
| 110 | Temporomandibular Joint Disorders | 11.6% |
| 111 | CHARGE Syndrome | 11.6% |
| 112 | Ischemic contracture | 11.5% |
| 113 | Bone Diseases | 11.3% |
| 114 | Rheumatic Fever | 11.1% |
| 115 | Dural Arteriovenous Fistula | 11% |
| 116 | Dextrocardia | 10.9% |
| 117 | Osteogenesis Imperfecta | 10.9% |
| 118 | Xeroderma | 10.3% |
| 119 | Mobius Syndrome | 10.3% |
| 120 | Temporomandibular Joint Dysfunction Syndrome | 10.3% |
| 121 | Genetic Diseases, Inborn | 10.1% |
| 122 | Rheumatoid Arthritis | 10% |
| 123 | Juvenile arthritis | 10% |
| 124 | Abnormalities, Radiation-Induced | 9.9% |
| 125 | Hip Contracture | 9.8% |
| 126 | Periarthritis | 9.8% |
| 127 | Prune Belly Syndrome | 9.8% |
| 128 | Twins, Conjoined | 9.8% |
| 129 | Waardenburg Syndrome | 9.8% |
| 130 | Ankylosing spondylitis | 9.4% |
| 131 | Arthritis, Gouty | 9.2% |
| 132 | Scimitar Syndrome | 9.1% |
| 133 | Arthritis | 9.1% |
| 134 | Bursitis | 9.1% |
| 135 | Joint Instability | 9.1% |
| 136 | Myofascial Pain Syndromes | 9.1% |
| 137 | Rhabdomyolysis | 9.1% |
| 138 | Synovitis | 9.1% |
| 139 | Joint laxity | 9.1% |
| 140 | Polyarthritis | 9.1% |
| 141 | Frozen shoulder | 9.1% |
| 142 | Patellofemoral Pain Syndrome | 9.1% |
| 143 | Chondrodysplasia Punctata | 8.9% |
| 144 | Enchondromatosis | 8.9% |
| 145 | Osteosclerosis | 8.9% |
| 146 | Kashin-Beck Disease | 8.9% |
| 147 | Alstrom Syndrome | 8.8% |
| 148 | Fetal Diseases | 8.8% |
| 149 | Polycystic Kidney Diseases | 8.7% |
| 150 | Williams Syndrome | 8.7% |
| 151 | Discitis | 8.5% |
| 152 | Anophthalmos | 8.5% |
| 153 | Anus, Imperforate | 8.5% |
| 154 | Hydranencephaly | 8.5% |
| 155 | Microphthalmos | 8.5% |
| 156 | Neural Tube Defects | 8.5% |
| 157 | Tethered Cord Syndrome | 8.5% |
| 158 | Iniencephaly | 8.5% |
| 159 | Craniorachischisis | 8.5% |
| 160 | Exencephaly | 8.5% |
| 161 | Septo-Optic Dysplasia | 8.5% |
| 162 | Cortical Dysplasia | 8.5% |
| 163 | Malformations of Cortical Development | 8.5% |
| 164 | Anorectal Malformations | 8.5% |
| 165 | Muscular Dystrophy | 8.5% |
| 166 | Ainhum | 8.4% |
| 167 | Spinal Stenosis | 8.4% |
| 168 | Spondylosis | 8.4% |
| 169 | Intervertebral Disc Degeneration | 8.4% |
| 170 | Bloom Syndrome | 8.4% |
| 171 | Osteoarthritis, Knee | 8.4% |
| 172 | Eosinophilic Granuloma | 8.4% |
| 173 | Arthritis, Psoriatic | 8.4% |
| 174 | Myotonic Dystrophy | 8.2% |
| 175 | Retinal Dysplasia | 8.1% |
| 176 | Aniridia | 8% |
| 177 | Ichthyosis, X-Linked | 7.9% |
| 178 | Epidermolysis Bullosa | 7.9% |
| 179 | Compartment syndromes | 7.9% |
| 180 | Maxillary Diseases | 7.9% |
| 181 | Tendinitis | 7.9% |
| 182 | Tendinopathy | 7.9% |
| 183 | Hemarthrosis | 7.8% |
| 184 | Myositis | 7.8% |
| 185 | Tietze's Syndrome | 7.8% |
| 186 | Isaacs syndrome | 7.8% |
| 187 | Myotonic Disorders | 7.8% |
| 188 | Fragile X Syndrome | 7.8% |
| 189 | Smith-Lemli-Opitz Syndrome | 7.7% |
| 190 | Tuberculosis, Spinal | 7.5% |
| 191 | Turner Syndrome | 7.5% |
| 192 | Cystic Fibrosis | 7.5% |
| 193 | Blepharophimosis | 7.5% |
| 194 | Laryngostenosis | 7.5% |
| 195 | Mouth Abnormalities | 7.5% |
| 196 | Familial Periodic Paralysis | 7.5% |
| 197 | Esophageal Atresia | 7.5% |
| 198 | Intestinal Atresia | 7.5% |
| 199 | Horseshoe Kidney | 7.5% |
| 200 | Acrodermatitis | 7.4% |
| 201 | Lymphangiectasis, Intestinal | 7.4% |
| 202 | Gianotti-Crosti Syndrome | 7.4% |
| 203 | Rheumatoid Nodule | 7.3% |
| 204 | Arthritis, Reactive | 7.3% |
| 205 | Osteomyelitis | 7.3% |
| 206 | Osteoporosis | 7.3% |
| 207 | Periostitis | 7.3% |
| 208 | Bone Demineralization, Pathologic | 7.3% |
| 209 | Post-Traumatic Osteoporosis | 7.3% |
| 210 | Alveolar Bone Loss | 7.2% |
| 211 | Femur Head Necrosis | 7.2% |
| 212 | Osteolysis | 7.2% |
| 213 | Spondylarthropathies | 7.2% |
| 214 | Muscular Dystrophy, Duchenne | 7.1% |
| 215 | Medial Tibial Stress Syndrome | 6.9% |
| 216 | Primary Ciliary Dyskinesia | 6.9% |
| 217 | Mitochondrial Myopathies | 6.8% |
| 218 | Muscle Cramp | 6.8% |
| 219 | Eosinophilia-Myalgia Syndrome | 6.8% |
| 220 | Muscle Rigidity | 6.8% |
| 221 | Muscle Spasticity | 6.8% |
| 222 | Cogwheel Rigidity | 6.8% |
| 223 | Nuchal Rigidity | 6.8% |
| 224 | Choanal Atresia | 6.7% |
| 225 | Tracheobronchomegaly | 6.7% |
| 226 | Laryngocele | 6.7% |
| 227 | Meconium Aspiration Syndrome | 6.7% |
| 228 | Choledochal Cyst | 6.7% |
| 229 | Hermaphroditism | 6.7% |
| 230 | Disorders of Sex Development | 6.7% |
| 231 | Cryptorchidism | 6.6% |
| 232 | Hypospadias | 6.6% |
| 233 | Pseudoxanthoma Elasticum | 6.6% |
| 234 | Bone Diseases, Developmental | 6.6% |
| 235 | Classical Lissencephalies and Subcortical Band Heterotopias | 6.6% |
| 236 | Central Nervous System Cysts | 6.6% |
| 237 | Dandy-Walker Syndrome | 6.6% |
| 238 | Felty Syndrome | 6.5% |
| 239 | POEMS Syndrome | 6.5% |
| 240 | Melorheostosis | 6.5% |
| 241 | Osteopetrosis | 6.5% |
| 242 | Pseudohypoparathyroidism | 6.4% |
| 243 | Acromegaly | 6.3% |
| 244 | Joint Tuberculosis | 6.3% |
| 245 | Tuberculosis, Osteoarticular | 6.3% |
| 246 | Bone Tuberculosis | 6.3% |
| 247 | Sjogren-Larsson Syndrome | 6.3% |
| 248 | Chronic Fatigue Syndrome | 6.3% |
| 249 | Xeroderma Pigmentosum | 6.1% |
| 250 | Giant Cell Epulis | 6.1% |
| 251 | Muscle Weakness | 6.1% |
| 252 | Musculoskeletal Pain | 6.1% |
| 253 | Arthralgia | 6% |
| 254 | Myotonia Congenita | 6% |
| 255 | Polyarthralgia | 6% |
| 256 | Bladder Exstrophy | 6% |
| 257 | Epispadias | 6% |
| 258 | Multicystic Dysplastic Kidney | 5.9% |
| 259 | Rheumatoid Vasculitis | 5.9% |
| 260 | Polycystic Kidney, Autosomal Dominant | 5.7% |
| 261 | Bunion | 5.7% |
| 262 | Fibrodysplasia Ossificans Progressiva | 5.7% |
| 263 | Myoglobinuria | 5.7% |
| 264 | Myositis Ossificans | 5.7% |
| 265 | Tenosynovitis | 5.7% |
| 266 | Sacroiliitis | 5.7% |
| 267 | Lordosis | 5.7% |
| 268 | Spondylolysis | 5.7% |
| 269 | kyphosis | 5.7% |
| 270 | Zellweger Syndrome | 5.7% |
| 271 | Klinefelter Syndrome | 5.7% |
| 272 | Kallmann Syndrome | 5.6% |
| 273 | Rickets | 5.6% |
| 274 | Ectopia Cordis | 5.6% |
| 275 | Meningomyelocele | 5.6% |
| 276 | Spina Bifida | 5.6% |
| 277 | Single umbilical artery | 5.6% |
| 278 | Abdominal Cramps | 5.5% |
| 279 | Amniotic Band Syndrome | 5.5% |
| 280 | Asphyxia Neonatorum | 5.5% |
| 281 | Infant, Premature, Diseases | 5.5% |
| 282 | Infantile Colic | 5.5% |
| 283 | Welander Distal Myopathy | 5.5% |
| 284 | Palatal Neoplasms | 5.5% |
| 285 | Myalgia | 5.4% |
| 286 | Sicca Syndrome | 5.3% |
| 287 | Sjogren's Syndrome | 5.3% |
| 288 | Charcot-Marie-Tooth Disease | 5.2% |
| 289 | Tuberous Sclerosis | 5% |
| 290 | Hyperkeratosis, Epidermolytic | 5% |
| 291 | Arthritis, Infectious | 5% |
| 292 | Anterior Compartment Syndrome | 4.9% |
| 293 | Enthesopathy | 4.9% |
| 294 | Arthritis, Experimental | 4.9% |
| 295 | Abdominal Compartment Syndrome | 4.9% |
| 296 | Aortic coarctation | 4.9% |
| 297 | Cor Triatriatum | 4.9% |
| 298 | Coronary Vessel Anomalies | 4.9% |
| 299 | Dental Enamel Hypoplasia | 4.9% |
| 300 | Patent ductus arteriosus | 4.9% |
| 301 | Ebstein Anomaly | 4.9% |
| 302 | Heart Septal Defects | 4.9% |
| 303 | Hypodontia | 4.9% |
| 304 | Macrostomia | 4.9% |
| 305 | Meningocele | 4.9% |
| 306 | Microstomia | 4.9% |
| 307 | Tetralogy of Fallot | 4.9% |
| 308 | Transposition of Great Vessels | 4.9% |
| 309 | Hypoplastic Left Heart Syndrome | 4.9% |
| 310 | May-Thurner Syndrome | 4.9% |
| 311 | Encephalocele | 4.9% |
| 312 | Polymyositis | 4.9% |
| 313 | Osteoporosis, Postmenopausal | 4.9% |
| 314 | Wolff-Parkinson-White Syndrome | 4.9% |
| 315 | Neoplastic Syndromes, Hereditary | 4.9% |
| 316 | Hypokalemic periodic paralysis | 4.9% |
| 317 | Refsum Disease | 4.9% |
| 318 | Anemia, Neonatal | 4.7% |
| 319 | Pelger-Huet Anomaly | 4.7% |
| 320 | Persistent Fetal Circulation Syndrome | 4.7% |
| 321 | Werner Syndrome | 4.7% |
| 322 | Myasthenic Syndromes, Congenital | 4.7% |
| 323 | Umbilical hernia | 4.7% |
| 324 | Hyperandrogenism | 4.5% |
| 325 | Albinism | 4.4% |
| 326 | Hip Dislocation | 4.4% |
| 327 | Shoulder Dislocation | 4.4% |
| 328 | Hip Dysplasia | 4.4% |
| 329 | Long QT Syndrome | 4.4% |
| 330 | Tricuspid Atresia | 4.4% |
| 331 | Arrhythmogenic Right Ventricular Dysplasia | 4.4% |
| 332 | Anemia, Sickle Cell | 4.4% |
| 333 | Thalassemia | 4.4% |
| 334 | Dysostoses | 4.4% |
| 335 | Gonadal Dysgenesis | 4.4% |
| 336 | Adrenogenital Syndrome | 4.4% |
| 337 | Ovotesticular Disorders of Sex Development | 4.4% |
| 338 | Orbital Myositis | 4.3% |
| 339 | Spondylolisthesis | 4.3% |
| 340 | Dupuytren Contracture | 4.3% |
| 341 | Pyomyositis | 4.3% |
| 342 | Mastoiditis | 4.3% |
| 343 | Petrositis | 4.3% |
| 344 | Neonatal Abstinence Syndrome | 4.2% |
| 345 | Dermal Sinus | 4.2% |
| 346 | Spina Bifida Cystica | 4.2% |
| 347 | Spina Bifida Occulta | 4.2% |
| 348 | Lissencephaly | 4.2% |
| 349 | Polymicrogyria | 4.2% |
| 350 | Pachygyria | 4.2% |
| 351 | Schizencephaly | 4.2% |
| 352 | Periventricular Nodular Heterotopia | 4.2% |
| 353 | Fetal Growth Retardation | 4.1% |
| 354 | Fetal Hypoxia | 4.1% |
| 355 | Congenital nystagmus | 4.1% |
| 356 | Fetal Alcohol Spectrum Disorders | 4.1% |
| 357 | Toxoplasmosis, Congenital | 4.1% |
| 358 | Syphilis, Congenital | 4.1% |
| 359 | Shoulder Pain | 3.8% |
| 360 | Osteomalacia | 3.8% |
| 361 | Autoimmune Lymphoproliferative Syndrome | 3.7% |
| 362 | Congenital Hyperinsulinism | 3.7% |
| 363 | Chorioamnionitis | 3.7% |
| 364 | Aortopulmonary Septal Defect | 3.6% |
| 365 | Double Outlet Right Ventricle | 3.6% |
| 366 | Endocardial Cushion Defects | 3.6% |
| 367 | Myocardial bridging | 3.6% |
| 368 | Aorticopulmonary Septal Defect | 3.6% |
| 369 | Angioedemas, Hereditary | 3.6% |
| 370 | Wiskott-Aldrich Syndrome | 3.6% |
| 371 | Mucopolysaccharidosis II | 3.5% |
| 372 | Menkes Kinky Hair Syndrome | 3.5% |
| 373 | Mitochondrial Encephalomyopathies | 3.4% |
| 374 | Familial Mediterranean Fever | 3.3% |
| 375 | Rett Syndrome | 3.2% |
| 376 | Romano-Ward Syndrome | 3.2% |
| 377 | Truncus Arteriosus, Persistent | 3% |
| 378 | Ophthalmia Neonatorum | 3% |
| 379 | Nose Neoplasms | 2.9% |
| 380 | Neuronal Ceroid-Lipofuscinoses | 2.9% |
| 381 | Adrenoleukodystrophy | 2.9% |
| 382 | Sickle Cell Trait | 2.9% |
| 383 | Hepatolenticular Degeneration | 2.9% |
| 384 | Paralysis, Obstetric | 2.8% |
| 385 | Retinopathy of Prematurity | 2.8% |
| 386 | Renal Osteodystrophy | 2.8% |
| 387 | Renal rickets | 2.8% |
| 388 | Amino Acid Metabolism, Inborn Errors | 2.8% |
| 389 | Carbohydrate Metabolism, Inborn Errors | 2.8% |
| 390 | Metal Metabolism, Inborn Errors | 2.8% |
| 391 | Progeria | 2.8% |
| 392 | Lysosomal Storage Diseases | 2.8% |
| 393 | Cytochrome-c Oxidase Deficiency | 2.8% |
| 394 | Peroxisomal Disorders | 2.8% |
| 395 | Bronchopulmonary Dysplasia | 2.8% |
| 396 | Ataxia Telangiectasia | 2.8% |
| 397 | Dermatomyositis | 2.8% |
| 398 | Amyloid Neuropathies, Familial | 2.7% |
| 399 | Arteriovenous fistula | 2.7% |
| 400 | MELAS Syndrome | 2.6% |
| 401 | Familial Hypophosphatemic Rickets | 2.6% |
| 402 | Fabry Disease | 2.5% |
| 403 | Respiratory Distress Syndrome, Newborn | 2.5% |
| 404 | Cutis Laxa | 2.5% |
| 405 | Retinitis Pigmentosa | 2.5% |
| 406 | Pigmentary retinopathy | 2.5% |
| 407 | Porokeratosis | 2.5% |
| 408 | Keratoderma, Palmoplantar | 2.5% |
| 409 | Hydrops Fetalis | 2.5% |
| 410 | Denys-Drash Syndrome | 2.5% |
| 411 | Chronic granulomatous disease | 2.5% |
| 412 | Acute Chest Syndrome | 2.4% |
| 413 | Galactosemias | 2.4% |
| 414 | Urea Cycle Disorders, Inborn | 2.4% |
| 415 | Tyrosinemias | 2.4% |
| 416 | Canavan Disease | 2.2% |
| 417 | Alexander Disease | 2.2% |
| 418 | Duane Retraction Syndrome | 2.2% |
| 419 | Glycogen storage disease type II | 2.2% |
| 420 | Porphyrias, Hepatic | 2.2% |
| 421 | Peutz-Jeghers Syndrome | 2.2% |
| 422 | Thrombasthenia | 2.2% |
| 423 | Antithrombin III Deficiency | 2.2% |
| 424 | Protein C Deficiency | 2.2% |
| 425 | Brain Diseases, Metabolic, Inborn | 2.2% |
| 426 | Afibrinogenemia | 2.2% |
| 427 | Dystonia Musculorum Deformans | 2.2% |
| 428 | Factor VII Deficiency | 2.2% |
| 429 | Factor X Deficiency | 2.2% |
| 430 | Factor XII Deficiency | 2.2% |
| 431 | Hemophilia A | 2.2% |
| 432 | Leukomalacia, Periventricular | 2.2% |
| 433 | Activated Protein C Resistance | 2.2% |
| 434 | Factor II deficiency | 2.2% |
| 435 | Factor VIII Deficiency | 2.2% |
| 436 | Factor V deficiency | 2.2% |
| 437 | Factor XI Deficiency | 2.2% |
| 438 | Hypoprothrombinemias | 2.2% |
| 439 | Fanconi Anemia | 2.2% |
| 440 | Nesidioblastosis | 2.2% |
| 441 | Optic Atrophy, Hereditary, Leber | 2.2% |
| 442 | Lafora Disease | 2.2% |
| 443 | Unverricht-Lundborg Syndrome | 2.2% |
| 444 | Anemia, Diamond-Blackfan | 2.2% |
| 445 | Hyperphosphaturia | 2.2% |
| 446 | Multiple Endocrine Neoplasia | 2% |
| 447 | Dermatitis, Atopic | 2% |
| 448 | Radicular Cyst | 1.9% |
| 449 | Mucopolysaccharidosis III | 1.9% |
| 450 | Homocystinuria | 1.9% |
| 451 | Leigh Disease | 1.9% |
| 452 | Alkaptonuria | 1.9% |
| 453 | Glycogen Storage Disease | 1.9% |
| 454 | Hypophosphatasia | 1.9% |
| 455 | Propionic acidemia | 1.9% |
| 456 | Dihydropyrimidine Dehydrogenase Deficiency | 1.9% |
| 457 | Cystinosis | 1.9% |
| 458 | Kernicterus | 1.8% |
| 459 | Behcet Syndrome | 1.8% |
| 460 | Gaucher Disease | 1.7% |
| 461 | Hyaline Membrane Disease | 1.6% |
| 462 | Huntington Disease | 1.6% |
| 463 | Hypolipoproteinemias | 1.6% |
| 464 | Papillon-Lefevre Disease | 1.6% |
| 465 | Hyperlipidemia, Familial Combined | 1.6% |
| 466 | Hyperlipoproteinemia Type III | 1.6% |
| 467 | Kearns-Sayre syndrome | 1.6% |
| 468 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 1.6% |
| 469 | Nephroblastoma | 1.5% |
| 470 | Lactose Intolerance | 1.4% |
| 471 | Variegate Porphyria | 1.4% |
| 472 | Acute intermittent porphyria | 1.4% |
| 473 | Porphyria Cutanea Tarda | 1.4% |
| 474 | Tay-Sachs Disease | 1.4% |
| 475 | Hyperhomocysteinemia | 1.4% |
| 476 | Renal Aminoacidurias | 1.4% |
| 477 | Fanconi Syndrome | 1.4% |
| 478 | Pseudohypoaldosteronism | 1.4% |
| 479 | Liddle Syndrome | 1.4% |
| 480 | Hyperlipoproteinemia Type IV | 1.4% |
| 481 | Hyperlipoproteinemia Type V | 1.4% |
| 482 | Niemann-Pick Disease, Type C | 1.4% |
| 483 | Adenomatous Polyposis Coli | 1.4% |
| 484 | Glycogen Storage Disease Type I | 1.4% |
| 485 | Glycogen Storage Disease Type V | 1.4% |
| 486 | Multiple Endocrine Neoplasia Type 1 | 1.3% |
| 487 | Friedreich Ataxia | 1.3% |
| 488 | Renal tubular acidosis | 1.3% |
| 489 | Hypoalphalipoproteinemias | 1.2% |
| 490 | Glycosuria, Renal | 1.1% |
| 491 | Cystinuria | 1.1% |