| 1 | Klippel-Feil Syndrome | 47.5% |
| 2 | Synostosis | 47.5% |
| 3 | Platybasia | 45.5% |
| 4 | Acrocephalosyndactylia | 45.3% |
| 5 | Pectus carinatum | 45.3% |
| 6 | Craniosynostosis | 44.7% |
| 7 | Syndactyly | 44.7% |
| 8 | Brachycephaly | 44.7% |
| 9 | Arthrogryposis | 42.6% |
| 10 | Limb Deformities, Congenital | 39.7% |
| 11 | Craniofacial Abnormalities | 39.7% |
| 12 | Craniofacial Dysostosis | 38.3% |
| 13 | Poland Syndrome | 37.2% |
| 14 | Gastroschisis | 32.8% |
| 15 | Rubinstein-Taybi Syndrome | 32.2% |
| 16 | Gigantism | 29.2% |
| 17 | Amelia | 28.9% |
| 18 | Arachnodactyly | 28.9% |
| 19 | Ectromelia | 28.9% |
| 20 | Hemimelia | 28.9% |
| 21 | Phocomelia | 28.9% |
| 22 | Sirenomelia | 28.9% |
| 23 | Polydactyly | 28.9% |
| 24 | Brachydactyly | 28.9% |
| 25 | Plagiocephaly | 28.9% |
| 26 | Lower Extremity Deformities, Congenital | 28.9% |
| 27 | Upper Extremity Deformities, Congenital | 28.9% |
| 28 | Dysostoses | 28.8% |
| 29 | Goldenhar Syndrome | 28.3% |
| 30 | Antley-Bixler Syndrome Phenotype | 28% |
| 31 | Osteoarthropathy, Secondary Hypertrophic | 27.8% |
| 32 | Multiple Epiphyseal Dysplasia | 27.4% |
| 33 | Osteochondrodysplasias | 27.4% |
| 34 | Mandibulofacial Dysostosis | 27.1% |
| 35 | Holoprosencephaly | 26.7% |
| 36 | Maxillofacial Abnormalities | 26.6% |
| 37 | Talipes | 24.5% |
| 38 | Microcephaly | 23.9% |
| 39 | Macrocephaly | 23.9% |
| 40 | Dwarfism | 23.5% |
| 41 | Osteochondritis | 23% |
| 42 | Hyperostosis | 22.4% |
| 43 | Osteitis | 22.4% |
| 44 | Osteitis Deformans | 22.4% |
| 45 | Osteochondrosis | 22.4% |
| 46 | Spinal Diseases | 22.4% |
| 47 | Jaw Abnormalities | 21.9% |
| 48 | Chondrodysplasia Punctata | 21.8% |
| 49 | Enchondromatosis | 21.8% |
| 50 | Osteosclerosis | 21.8% |
| 51 | Kashin-Beck Disease | 21.8% |
| 52 | Congenital clubfoot | 21.5% |
| 53 | Vertical Talus | 21.5% |
| 54 | Marfan Syndrome | 20.7% |
| 55 | Congenital Hypothyroidism | 20.3% |
| 56 | Spinal Neoplasms | 20.2% |
| 57 | Spondylitis | 20.2% |
| 58 | Porencephaly | 20.2% |
| 59 | Fasciitis | 19.6% |
| 60 | Foot Deformities | 19.6% |
| 61 | Arthropathy | 19.6% |
| 62 | Contracture | 19.4% |
| 63 | Fasciitis, Plantar | 19.4% |
| 64 | Noonan Syndrome | 19.4% |
| 65 | Bone Diseases, Endocrine | 18.6% |
| 66 | Melorheostosis | 18.4% |
| 67 | Osteopetrosis | 18.4% |
| 68 | Laryngomalacia | 18.1% |
| 69 | Osteogenesis Imperfecta | 18.1% |
| 70 | Bone Diseases, Infectious | 18.1% |
| 71 | Bone neoplasms | 18.1% |
| 72 | Osteopenia | 18.1% |
| 73 | Micrognathism | 18% |
| 74 | Pierre Robin Syndrome | 18% |
| 75 | Osteoarthritis, Spine | 18% |
| 76 | Bone Resorption | 17.8% |
| 77 | Aseptic Necrosis of Bone | 17.8% |
| 78 | Prognathism | 17.8% |
| 79 | Cockayne Syndrome | 17.1% |
| 80 | Retrognathia | 16.2% |
| 81 | Jaw Diseases | 16.2% |
| 82 | Fibromyalgia | 16.1% |
| 83 | Polymyalgia Rheumatica | 16.1% |
| 84 | Basal Cell Nevus Syndrome | 16% |
| 85 | Metatarsalgia | 16% |
| 86 | Cleft Palate | 16% |
| 87 | Beckwith-Wiedemann Syndrome | 15.7% |
| 88 | Wolf-Hirschhorn Syndrome | 15.7% |
| 89 | Cartilage Diseases | 15.7% |
| 90 | Foot Diseases | 15.7% |
| 91 | Myopathy | 15.7% |
| 92 | Rheumatism | 15.7% |
| 93 | Chondromalacia | 15.7% |
| 94 | Nail-Patella Syndrome | 15.7% |
| 95 | Gout | 15.5% |
| 96 | Abnormalities, Drug-Induced | 15.5% |
| 97 | Situs Inversus | 15.5% |
| 98 | Discitis | 15.5% |
| 99 | Ankylosing spondylitis | 15.4% |
| 100 | Ainhum | 15.3% |
| 101 | Spinal Stenosis | 15.3% |
| 102 | Spondylosis | 15.3% |
| 103 | Intervertebral Disc Degeneration | 15.3% |
| 104 | Bronchomalacia | 14.8% |
| 105 | Tracheomalacia | 14.8% |
| 106 | Ischemic contracture | 14.4% |
| 107 | Temporomandibular Joint Disorders | 13.8% |
| 108 | Smith-Magenis syndrome | 13.6% |
| 109 | Rheumatic Fever | 13.6% |
| 110 | Hip Contracture | 13.5% |
| 111 | Periarthritis | 13.5% |
| 112 | Cri-du-Chat Syndrome | 13.4% |
| 113 | Down Syndrome | 13.4% |
| 114 | Trisomy 21 | 13.4% |
| 115 | Spondylarthropathies | 13.3% |
| 116 | Aicardi's syndrome | 13.2% |
| 117 | Arthritis, Psoriatic | 13.2% |
| 118 | Tuberculosis, Spinal | 13.2% |
| 119 | Temporomandibular Joint Dysfunction Syndrome | 13% |
| 120 | Eye Abnormalities | 12.9% |
| 121 | Cardiovascular Abnormalities | 12.9% |
| 122 | Skin Abnormalities | 12.5% |
| 123 | Lymphatic Abnormalities | 12.5% |
| 124 | Congenital Microtia | 12.5% |
| 125 | Arthritis, Reactive | 12.2% |
| 126 | Congenital diaphragmatic hernia | 12.2% |
| 127 | Osteomyelitis | 12.2% |
| 128 | Osteoporosis | 12.2% |
| 129 | Periostitis | 12.2% |
| 130 | Bone Demineralization, Pathologic | 12.2% |
| 131 | Post-Traumatic Osteoporosis | 12.2% |
| 132 | Alveolar Bone Loss | 12.1% |
| 133 | Femur Head Necrosis | 12.1% |
| 134 | Osteoarthritis, Knee | 12.1% |
| 135 | Osteolysis | 12.1% |
| 136 | Arthritis | 12.1% |
| 137 | Bursitis | 12.1% |
| 138 | Joint Instability | 12.1% |
| 139 | Myofascial Pain Syndromes | 12.1% |
| 140 | Rhabdomyolysis | 12.1% |
| 141 | Synovitis | 12.1% |
| 142 | Joint laxity | 12.1% |
| 143 | Polyarthritis | 12.1% |
| 144 | Frozen shoulder | 12.1% |
| 145 | Patellofemoral Pain Syndrome | 12.1% |
| 146 | Rheumatoid Arthritis | 11.8% |
| 147 | Ectodermal Dysplasia | 11.8% |
| 148 | Lordosis | 11.8% |
| 149 | Spondylolysis | 11.8% |
| 150 | Aplasia Cutis Congenita | 11.8% |
| 151 | kyphosis | 11.8% |
| 152 | Juvenile arthritis | 11.8% |
| 153 | Anencephaly | 11.7% |
| 154 | Arthritis, Gouty | 11.7% |
| 155 | Prader-Willi Syndrome | 11.7% |
| 156 | Eosinophilic Granuloma | 10.9% |
| 157 | Bone Diseases | 10.7% |
| 158 | Urogenital Abnormalities | 10.7% |
| 159 | CHARGE Syndrome | 10.2% |
| 160 | Prune Belly Syndrome | 10.2% |
| 161 | Twins, Conjoined | 10.2% |
| 162 | Waardenburg Syndrome | 10.2% |
| 163 | Dural Arteriovenous Fistula | 10.1% |
| 164 | Kartagener Syndrome | 10.1% |
| 165 | Dextrocardia | 10% |
| 166 | Spondylolisthesis | 10% |
| 167 | Acromegaly | 10% |
| 168 | Joint Tuberculosis | 10% |
| 169 | Tuberculosis, Osteoarticular | 10% |
| 170 | Bone Tuberculosis | 10% |
| 171 | Rheumatoid Nodule | 10% |
| 172 | Compartment syndromes | 9.7% |
| 173 | Maxillary Diseases | 9.7% |
| 174 | Tendinitis | 9.7% |
| 175 | Tendinopathy | 9.7% |
| 176 | Hemarthrosis | 9.6% |
| 177 | Myositis | 9.6% |
| 178 | Tietze's Syndrome | 9.6% |
| 179 | Isaacs syndrome | 9.6% |
| 180 | Myotonic Disorders | 9.6% |
| 181 | Osteoporosis, Postmenopausal | 9.3% |
| 182 | Muscular Dystrophy | 9% |
| 183 | Genetic Diseases, Inborn | 8.9% |
| 184 | Pseudohypoparathyroidism | 8.7% |
| 185 | Xeroderma | 8.7% |
| 186 | Mobius Syndrome | 8.7% |
| 187 | Myotonic Dystrophy | 8.6% |
| 188 | Rickets | 8.6% |
| 189 | Felty Syndrome | 8.6% |
| 190 | Bunion | 8.5% |
| 191 | Fibrodysplasia Ossificans Progressiva | 8.5% |
| 192 | Myoglobinuria | 8.5% |
| 193 | Myositis Ossificans | 8.5% |
| 194 | Tenosynovitis | 8.5% |
| 195 | Sacroiliitis | 8.5% |
| 196 | Anophthalmos | 8.2% |
| 197 | Anus, Imperforate | 8.2% |
| 198 | Hydranencephaly | 8.2% |
| 199 | Microphthalmos | 8.2% |
| 200 | Neural Tube Defects | 8.2% |
| 201 | Tethered Cord Syndrome | 8.2% |
| 202 | Iniencephaly | 8.2% |
| 203 | Craniorachischisis | 8.2% |
| 204 | Exencephaly | 8.2% |
| 205 | Septo-Optic Dysplasia | 8.2% |
| 206 | Cortical Dysplasia | 8.2% |
| 207 | Malformations of Cortical Development | 8.2% |
| 208 | Anorectal Malformations | 8.2% |
| 209 | Familial Periodic Paralysis | 8.2% |
| 210 | Bloom Syndrome | 8.1% |
| 211 | Palatal Neoplasms | 8.1% |
| 212 | Medial Tibial Stress Syndrome | 8% |
| 213 | Scimitar Syndrome | 8% |
| 214 | Mitochondrial Myopathies | 8% |
| 215 | Muscle Cramp | 7.9% |
| 216 | Eosinophilia-Myalgia Syndrome | 7.9% |
| 217 | Muscle Rigidity | 7.8% |
| 218 | Muscle Spasticity | 7.8% |
| 219 | Cogwheel Rigidity | 7.8% |
| 220 | Nuchal Rigidity | 7.8% |
| 221 | Mastoiditis | 7.7% |
| 222 | Petrositis | 7.7% |
| 223 | Alstrom Syndrome | 7.7% |
| 224 | Muscular Dystrophy, Duchenne | 7.6% |
| 225 | Polycystic Kidney Diseases | 7.6% |
| 226 | Williams Syndrome | 7.6% |
| 227 | Abnormalities, Radiation-Induced | 7.6% |
| 228 | Rheumatoid Vasculitis | 7.5% |
| 229 | Fragile X Syndrome | 7.4% |
| 230 | Fetal Diseases | 7.1% |
| 231 | Chronic Fatigue Syndrome | 7.1% |
| 232 | Classical Lissencephalies and Subcortical Band Heterotopias | 7% |
| 233 | Turner Syndrome | 6.9% |
| 234 | Blepharophimosis | 6.9% |
| 235 | Bone Diseases, Developmental | 6.9% |
| 236 | Laryngostenosis | 6.9% |
| 237 | Mouth Abnormalities | 6.9% |
| 238 | Retinal Dysplasia | 6.9% |
| 239 | Arthritis, Infectious | 6.8% |
| 240 | Aniridia | 6.8% |
| 241 | Giant Cell Epulis | 6.8% |
| 242 | Muscle Weakness | 6.8% |
| 243 | Esophageal Atresia | 6.8% |
| 244 | Intestinal Atresia | 6.8% |
| 245 | Horseshoe Kidney | 6.8% |
| 246 | Pectus excavatum | 6.8% |
| 247 | Musculoskeletal Pain | 6.8% |
| 248 | Anterior Compartment Syndrome | 6.8% |
| 249 | Enthesopathy | 6.8% |
| 250 | Arthritis, Experimental | 6.8% |
| 251 | Abdominal Compartment Syndrome | 6.8% |
| 252 | Acrodermatitis | 6.7% |
| 253 | Lymphangiectasis, Intestinal | 6.7% |
| 254 | Gianotti-Crosti Syndrome | 6.7% |
| 255 | Epidermolysis Bullosa | 6.7% |
| 256 | Polymyositis | 6.7% |
| 257 | Arthralgia | 6.7% |
| 258 | Myotonia Congenita | 6.7% |
| 259 | Polyarthralgia | 6.7% |
| 260 | Welander Distal Myopathy | 6.6% |
| 261 | Sicca Syndrome | 6.6% |
| 262 | Sjogren's Syndrome | 6.6% |
| 263 | Ichthyosis, X-Linked | 6.6% |
| 264 | Primary Ciliary Dyskinesia | 6.6% |
| 265 | Smith-Lemli-Opitz Syndrome | 6.6% |
| 266 | Osteomalacia | 6.6% |
| 267 | Ectopia Cordis | 6% |
| 268 | Meningomyelocele | 6% |
| 269 | Spina Bifida | 6% |
| 270 | Single umbilical artery | 6% |
| 271 | Cystic Fibrosis | 6% |
| 272 | Choanal Atresia | 5.9% |
| 273 | Tracheobronchomegaly | 5.9% |
| 274 | Laryngocele | 5.9% |
| 275 | Hypokalemic periodic paralysis | 5.9% |
| 276 | Choledochal Cyst | 5.9% |
| 277 | Hermaphroditism | 5.9% |
| 278 | Disorders of Sex Development | 5.9% |
| 279 | Myalgia | 5.8% |
| 280 | Cryptorchidism | 5.8% |
| 281 | Hypospadias | 5.8% |
| 282 | Central Nervous System Cysts | 5.8% |
| 283 | Dandy-Walker Syndrome | 5.8% |
| 284 | Hip Dislocation | 5.7% |
| 285 | Shoulder Dislocation | 5.7% |
| 286 | Hip Dysplasia | 5.7% |
| 287 | Klinefelter Syndrome | 5.7% |
| 288 | POEMS Syndrome | 5.7% |
| 289 | Orbital Myositis | 5.6% |
| 290 | Polycystic Kidney, Autosomal Dominant | 5.6% |
| 291 | Dupuytren Contracture | 5.6% |
| 292 | Pyomyositis | 5.6% |
| 293 | Pseudoxanthoma Elasticum | 5.4% |
| 294 | Sjogren-Larsson Syndrome | 5.3% |
| 295 | Abdominal Cramps | 5.2% |
| 296 | Amniotic Band Syndrome | 5.2% |
| 297 | Asphyxia Neonatorum | 5.2% |
| 298 | Infant, Premature, Diseases | 5.2% |
| 299 | Meconium Aspiration Syndrome | 5.2% |
| 300 | Infantile Colic | 5.2% |
| 301 | Bladder Exstrophy | 5.1% |
| 302 | Epispadias | 5.1% |
| 303 | Multicystic Dysplastic Kidney | 5% |
| 304 | Aortic coarctation | 5% |
| 305 | Cor Triatriatum | 5% |
| 306 | Coronary Vessel Anomalies | 5% |
| 307 | Dental Enamel Hypoplasia | 5% |
| 308 | Patent ductus arteriosus | 5% |
| 309 | Ebstein Anomaly | 5% |
| 310 | Heart Septal Defects | 5% |
| 311 | Hypodontia | 5% |
| 312 | Macrostomia | 5% |
| 313 | Meningocele | 5% |
| 314 | Microstomia | 5% |
| 315 | Tetralogy of Fallot | 5% |
| 316 | Transposition of Great Vessels | 5% |
| 317 | Hypoplastic Left Heart Syndrome | 5% |
| 318 | May-Thurner Syndrome | 5% |
| 319 | Encephalocele | 5% |
| 320 | Dermal Sinus | 5% |
| 321 | Spina Bifida Cystica | 5% |
| 322 | Spina Bifida Occulta | 5% |
| 323 | Lissencephaly | 5% |
| 324 | Polymicrogyria | 5% |
| 325 | Pachygyria | 5% |
| 326 | Schizencephaly | 5% |
| 327 | Periventricular Nodular Heterotopia | 5% |
| 328 | Kallmann Syndrome | 5% |
| 329 | Wolff-Parkinson-White Syndrome | 5% |
| 330 | Charcot-Marie-Tooth Disease | 4.9% |
| 331 | Xeroderma Pigmentosum | 4.9% |
| 332 | Hyperkeratosis, Epidermolytic | 4.9% |
| 333 | Nose Neoplasms | 4.8% |
| 334 | Shoulder Pain | 4.7% |
| 335 | Renal Osteodystrophy | 4.6% |
| 336 | Renal rickets | 4.6% |
| 337 | Zellweger Syndrome | 4.6% |
| 338 | Hyperandrogenism | 4.4% |
| 339 | Tuberous Sclerosis | 4.4% |
| 340 | Long QT Syndrome | 4.3% |
| 341 | Tricuspid Atresia | 4.3% |
| 342 | Arrhythmogenic Right Ventricular Dysplasia | 4.3% |
| 343 | Gonadal Dysgenesis | 4.3% |
| 344 | Neoplastic Syndromes, Hereditary | 4.3% |
| 345 | Adrenogenital Syndrome | 4.3% |
| 346 | Ovotesticular Disorders of Sex Development | 4.3% |
| 347 | Refsum Disease | 4.2% |
| 348 | Mitochondrial Encephalomyopathies | 4.1% |
| 349 | Aortopulmonary Septal Defect | 4.1% |
| 350 | Double Outlet Right Ventricle | 4.1% |
| 351 | Endocardial Cushion Defects | 4.1% |
| 352 | Myocardial bridging | 4.1% |
| 353 | Aorticopulmonary Septal Defect | 4.1% |
| 354 | Anemia, Neonatal | 4.1% |
| 355 | Pelger-Huet Anomaly | 4.1% |
| 356 | Persistent Fetal Circulation Syndrome | 4.1% |
| 357 | Werner Syndrome | 4.1% |
| 358 | Myasthenic Syndromes, Congenital | 4.1% |
| 359 | Umbilical hernia | 4.1% |
| 360 | Dermatomyositis | 3.9% |
| 361 | Anemia, Sickle Cell | 3.8% |
| 362 | Thalassemia | 3.8% |
| 363 | Truncus Arteriosus, Persistent | 3.7% |
| 364 | Albinism | 3.7% |
| 365 | Familial Hypophosphatemic Rickets | 3.6% |
| 366 | Romano-Ward Syndrome | 3.5% |
| 367 | Neonatal Abstinence Syndrome | 3.5% |
| 368 | Fetal Growth Retardation | 3.4% |
| 369 | Familial Mediterranean Fever | 3.4% |
| 370 | Fetal Hypoxia | 3.4% |
| 371 | Congenital nystagmus | 3.4% |
| 372 | Fetal Alcohol Spectrum Disorders | 3.4% |
| 373 | Toxoplasmosis, Congenital | 3.4% |
| 374 | Syphilis, Congenital | 3.4% |
| 375 | Rett Syndrome | 3.3% |
| 376 | Mucopolysaccharidosis II | 3.2% |
| 377 | Menkes Kinky Hair Syndrome | 3% |
| 378 | MELAS Syndrome | 3% |
| 379 | Wiskott-Aldrich Syndrome | 3% |
| 380 | Autoimmune Lymphoproliferative Syndrome | 2.9% |
| 381 | Congenital Hyperinsulinism | 2.9% |
| 382 | Chorioamnionitis | 2.9% |
| 383 | Radicular Cyst | 2.9% |
| 384 | Angioedemas, Hereditary | 2.9% |
| 385 | Sickle Cell Trait | 2.8% |
| 386 | Arteriovenous fistula | 2.8% |
| 387 | Paralysis, Obstetric | 2.7% |
| 388 | Retinopathy of Prematurity | 2.7% |
| 389 | Amino Acid Metabolism, Inborn Errors | 2.7% |
| 390 | Carbohydrate Metabolism, Inborn Errors | 2.7% |
| 391 | Metal Metabolism, Inborn Errors | 2.7% |
| 392 | Progeria | 2.7% |
| 393 | Lysosomal Storage Diseases | 2.7% |
| 394 | Cytochrome-c Oxidase Deficiency | 2.7% |
| 395 | Peroxisomal Disorders | 2.7% |
| 396 | Neuronal Ceroid-Lipofuscinoses | 2.7% |
| 397 | Bronchopulmonary Dysplasia | 2.7% |
| 398 | Adrenoleukodystrophy | 2.5% |
| 399 | Hepatolenticular Degeneration | 2.4% |
| 400 | Fabry Disease | 2.3% |
| 401 | Amyloid Neuropathies, Familial | 2.3% |
| 402 | Respiratory Distress Syndrome, Newborn | 2.3% |
| 403 | Cutis Laxa | 2.3% |
| 404 | Denys-Drash Syndrome | 2.3% |
| 405 | Retinitis Pigmentosa | 2.3% |
| 406 | Pigmentary retinopathy | 2.3% |
| 407 | Porokeratosis | 2.2% |
| 408 | Keratoderma, Palmoplantar | 2.2% |
| 409 | Chronic granulomatous disease | 2.2% |
| 410 | Acute Chest Syndrome | 2.2% |
| 411 | Ophthalmia Neonatorum | 2.2% |
| 412 | Glycogen storage disease type II | 2.2% |
| 413 | Galactosemias | 2.2% |
| 414 | Urea Cycle Disorders, Inborn | 2.2% |
| 415 | Tyrosinemias | 2.2% |
| 416 | Hydrops Fetalis | 2.2% |
| 417 | Mucopolysaccharidosis III | 2% |
| 418 | Ataxia Telangiectasia | 2% |
| 419 | Kearns-Sayre syndrome | 2% |
| 420 | Alkaptonuria | 2% |
| 421 | Glycogen Storage Disease | 2% |
| 422 | Hypophosphatasia | 2% |
| 423 | Propionic acidemia | 2% |
| 424 | Dihydropyrimidine Dehydrogenase Deficiency | 2% |
| 425 | Cystinosis | 2% |
| 426 | Optic Atrophy, Hereditary, Leber | 2% |
| 427 | Hyperphosphaturia | 2% |
| 428 | Duane Retraction Syndrome | 2% |
| 429 | Porphyrias, Hepatic | 1.9% |
| 430 | Canavan Disease | 1.9% |
| 431 | Alexander Disease | 1.9% |
| 432 | Peutz-Jeghers Syndrome | 1.9% |
| 433 | Thrombasthenia | 1.9% |
| 434 | Antithrombin III Deficiency | 1.9% |
| 435 | Protein C Deficiency | 1.9% |
| 436 | Brain Diseases, Metabolic, Inborn | 1.9% |
| 437 | Afibrinogenemia | 1.9% |
| 438 | Dystonia Musculorum Deformans | 1.9% |
| 439 | Factor VII Deficiency | 1.9% |
| 440 | Factor X Deficiency | 1.9% |
| 441 | Factor XII Deficiency | 1.9% |
| 442 | Hemophilia A | 1.9% |
| 443 | Leukomalacia, Periventricular | 1.9% |
| 444 | Activated Protein C Resistance | 1.9% |
| 445 | Factor II deficiency | 1.9% |
| 446 | Factor VIII Deficiency | 1.9% |
| 447 | Factor V deficiency | 1.9% |
| 448 | Factor XI Deficiency | 1.9% |
| 449 | Hypoprothrombinemias | 1.9% |
| 450 | Fanconi Anemia | 1.9% |
| 451 | Nesidioblastosis | 1.9% |
| 452 | Lafora Disease | 1.9% |
| 453 | Unverricht-Lundborg Syndrome | 1.9% |
| 454 | Anemia, Diamond-Blackfan | 1.9% |
| 455 | Homocystinuria | 1.8% |
| 456 | Gaucher Disease | 1.8% |
| 457 | Leigh Disease | 1.8% |
| 458 | Multiple Endocrine Neoplasia | 1.7% |
| 459 | Dermatitis, Atopic | 1.7% |
| 460 | Hyaline Membrane Disease | 1.7% |
| 461 | Hypolipoproteinemias | 1.7% |
| 462 | Papillon-Lefevre Disease | 1.7% |
| 463 | Glycogen Storage Disease Type I | 1.7% |
| 464 | Glycogen Storage Disease Type V | 1.7% |
| 465 | Hyperlipidemia, Familial Combined | 1.7% |
| 466 | Hyperlipoproteinemia Type III | 1.7% |
| 467 | Tay-Sachs Disease | 1.6% |
| 468 | Carbamoyl-Phosphate Synthase I Deficiency Disease | 1.6% |
| 469 | Niemann-Pick Disease, Type C | 1.6% |
| 470 | Kernicterus | 1.5% |
| 471 | Behcet Syndrome | 1.5% |
| 472 | Lactose Intolerance | 1.4% |
| 473 | Variegate Porphyria | 1.4% |
| 474 | Acute intermittent porphyria | 1.4% |
| 475 | Porphyria Cutanea Tarda | 1.4% |
| 476 | Hyperhomocysteinemia | 1.4% |
| 477 | Renal Aminoacidurias | 1.4% |
| 478 | Fanconi Syndrome | 1.4% |
| 479 | Pseudohypoaldosteronism | 1.4% |
| 480 | Liddle Syndrome | 1.4% |
| 481 | Hyperlipoproteinemia Type IV | 1.4% |
| 482 | Hyperlipoproteinemia Type V | 1.4% |
| 483 | Hypoalphalipoproteinemias | 1.4% |
| 484 | Huntington Disease | 1.3% |
| 485 | Multiple Endocrine Neoplasia Type 1 | 1.3% |
| 486 | Friedreich Ataxia | 1.2% |
| 487 | Renal tubular acidosis | 1.2% |
| 488 | Nephroblastoma | 1.2% |
| 489 | Cystinuria | 1.2% |
| 490 | Adenomatous Polyposis Coli | 1.1% |
| 491 | Glycosuria, Renal | 1% |