| 1 | Haemophilia A | 193 | 84 | 193 | 0 |
| 2 | Haemophilia B | 128 | 100 | 128 | 0 |
| 3 | Beta Thalassemia | 3663 | 26 | 328 | 3335 |
| 4 | Wilson Disease (WD) | 112 | 52 | 112 | 0 |
| 5 | Oculocutaneous Albinism type 1 (OCA1) | 72 | 18 | 72 | 0 |
| 6 | Huntington Disease (HD) | 20 | 15 | 20 | 0 |
| 7 | Myotonic Dystrophy (DM) | 12 | 12 | 12 | 0 |
| 8 | Friedreich ataxia 1 (FRDA) | 6 | 6 | 6 | 0 |
| 9 | Spinocerebellar ataxia 1 (SCA1) | 12 | 12 | 12 | 0 |
| 10 | Spinocerebellar ataxia 2 (SCA2) | 74 | 18 | 74 | 0 |
| 11 | Spinocerebellar ataxia 3 (SCA3) | 8 | 8 | 8 | 0 |
| 12 | Spinocerebellar ataxia 6 (SCA6) | 4 | 2 | 4 | 0 |
| 13 | Spinocerebellar ataxia 7 (SCA7) | 6 | 5 | 6 | 0 |
| 14 | Non-syndromic Hearing Loss (DFNB1A) | 348 | 23 | 324 | 24 |
| 15 | Usher Syndrome type I | 6 | 2 | 6 | 0 |
| 16 | Oculocutaneous Albinism type 2 (OCA2) | 13 | 8 | 13 | 0 |
| 17 | Oculocutaneous Albinism type 4 (OCA4) | 11 | 7 | 11 | 0 |
| 18 | Spinocerebellar ataxia 12 (SCA12) | 37 | 32 | 1 | 0 |
| 19 | Aniridia | 22 | 16 | 22 | 0 |
| 20 | Primary Open Angle Glaucoma (POAG) | 76 | 38 | 76 | 0 |
| 21 | Primary Congenital Glaucoma (PCG) | 168 | 64 | 168 | 0 |
| 22 | Primary Angle Closure Glaucoma (PACG) | 11 | 4 | 11 | 0 |
| 23 | Menkes Disease | 2 | 2 | 2 | 0 |
| 24 | Retinitis Pigmentosa (RP) | 26 | 17 | 26 | 0 |
| 25 | Parkinson Disease (PD) | 21 | 14 | 21 | 0 |
| 26 | Congenital Hereditary Endothelial Dystrophy 2 (CHED2) | 59 | 47 | 59 | 0 |
| 27 | Lafora Disease | 20 | 13 | 20 | 0 |
| 28 | Non-syndromic Hearing Loss (DFNB3) | 3 | 3 | 3 | 0 |
| 29 | Cystic Fibrosis | 146 | 38 | 146 | 0 |
| 30 | Achondroplasia | 63 | 3 | 63 | 0 |
| 31 | Autosomal recessive infantile malignant osteopetrosis (OPTB1) | 9 | 6 | 9 | 0 |
| 32 | Becker Muscular Dystrophy | 18 | 8 | 18 | 0 |
| 33 | Carbonic Anhydrase Deficiency II | 2 | 2 | 2 | 0 |
| 34 | Congenital cataract | 32 | 9 | 29 | 3 |
| 35 | Cystinosis nephropathic | 2 | 2 | 2 | 0 |
| 36 | Duchenne Muscular Dystrophy | 370 | 88 | 370 | 0 |
| 37 | Dyskeratosis congenita | 2 | 2 | 2 | 0 |
| 38 | Glanzmann Thrombasthenia | 61 | 50 | 61 | 0 |
| 39 | H syndrome | 2 | 2 | 2 | 0 |
| 40 | Haim Munk Syndrome | 12 | 3 | 12 | 0 |
| 41 | Hermansky-Pudlak Syndrome 1 | 4 | 3 | 4 | 0 |
| 42 | Megaloblastic Anemia | 15 | 6 | 15 | 0 |
| 43 | Microspheropakia | 4 | 2 | 4 | 0 |
| 44 | Oculocutaneous Albinism type 3 (OCA3) | 2 | 2 | 2 | 0 |
| 45 | Papillon-Lefevre syndrome | 10 | 6 | 10 | 0 |
| 46 | Peutz-Jeghers syndrome | 2 | 2 | 2 | 0 |
| 47 | Porphyria | 14 | 2 | 14 | 0 |
| 48 | Purpura | 3 | 3 | 3 | 0 |
| 49 | Rhizomelic Chondrodysplasia Punctata type 1 | 4 | 3 | 4 | 0 |
| 50 | Rett Syndrome | 6 | 6 | 6 | 0 |
| 51 | Farber lipogranulomatosis | 3 | 2 | 3 | 0 |
| 52 | Autosomal recessive infantile malignant osteopetrosis (OPTB4) | 3 | 3 | 3 | 0 |
| 53 | Hermansky-Pudlak Syndrome 9 | 1 | 1 | 1 | 0 |
| 54 | Biotidinase Deficiency | 4 | 3 | 4 | 0 |
| 55 | Costello Syndrome | 1 | 1 | 1 | 0 |
| 56 | Dyggve-Melchior-Clausen | 2 | 1 | 2 | 0 |
| 57 | Granular corneal dystrophy Type I | 4 | 1 | 2 | 2 |
| 58 | Gelatinous drop-like corneal dystrophy | 80 | 9 | 75 | 2 |
| 59 | Lattice corneal dystrophy Type I | 40 | 9 | 37 | 3 |
| 60 | Nance-Horan Syndrome | 19 | 1 | 8 | 11 |
| 61 | Permanent neonatal Diabetes Mellitus | 2 | 1 | 2 | 0 |
| 62 | Renal Cysts and Diabetes (RCAD) Syndrome | 1 | 1 | 1 | 0 |
| 63 | Distal renal tubular acidosis | 2 | 1 | 2 | 0 |
| 64 | Hereditary Hypophosphatemic Ricket with Hypercalciuria | 5 | 2 | 2 | 3 |
| 65 | X-linked hypophosphatemic rickets | 2 | 1 | 2 | 0 |
| 66 | Incontinetia pigmenti | 6 | 1 | 6 | 0 |
| 67 | Familial tumoral calcinosis | 6 | 2 | 4 | 2 |
| 68 | Frasier syndrome | 2 | 2 | 2 | 0 |
| 69 | Hypertrophic cardiomyopathy I | 26 | 3 | 24 | 2 |
| 70 | Keratoconus | 1 | 1 | 1 | 0 |
| 71 | Myotubular Myopathy | 6 | 3 | 6 | 0 |
| 72 | Pure Gonadal Dystrophy | 12 | 9 | 12 | 0 |
| 73 | Leber congenital amaurosis | 12 | 4 | 6 | 6 |
| 74 | Familial hypercholesterolemia (FH) | 49 | 10 | 48 | 1 |
| 75 | Familial hypertrophic cardiomyopathy -4 | 0 | 0 | 0 | 0 |
| 76 | Fragile X Syndrome | 0 | 0 | 0 | 0 |
| 77 | X-linked agammaglobulinemia | 2 | 1 | 2 | 0 |
| 78 | Allgrove syndrome | 4 | 1 | 4 | 0 |
| 79 | Venous thrombosis | 19 | 1 | 19 | 0 |
| 80 | Autosomal recessive hereditary neuropathy (Charcot-Marie-Tooth disease, type 4B1) | 1 | 1 | 1 | 0 |
| 81 | Transient neonatal diabetes | 5 | 1 | 4 | 1 |
| 82 | Neurodegeneration with Brain Iron Accumulation, Type 1 | 5 | 4 | 5 | 0 |
| 83 | Terminal 4q deletion syndrome | 1 | 1 | 1 | 0 |
| 84 | Chronic infantile neurological cutaneous articular (CINCA) syndrome | 1 | 1 | 1 | 0 |
| 85 | Congenital Generalized Lipodystrophy, Type 2 | 1 | 1 | 1 | 0 |
| 86 | Crigler-Najjar Syndrome, type I | 1 | 1 | 1 | 0 |
| 87 | Hypofibrinogenemia | 1 | 1 | 1 | 0 |
| 88 | Androgen insensitivity syndrome | 14 | 3 | 10 | 4 |
| 89 | Glycogen storage disease Ia | 9 | 1 | 5 | 4 |
| 90 | Hereditary Inclusion Body Myopathy 2 | 4 | 2 | 4 | 0 |
| 91 | Leber congenital amaurosis 2 | 9 | 2 | 5 | 4 |
| 92 | Macular Corneal Dystrophy | 135 | 65 | 135 | 0 |
| 93 | X-linked hypohidrotic ectodermal dysplasia 1 | 20 | 11 | 13 | 7 |
| 94 | Hypohidrotic-Hair-Tooth type Ectodermal Dysplasia 10B | 39 | 8 | 15 | 24 |
| 95 | Arrhythmogenic right ventricular dysplasia 2 | 1 | 1 | 1 | 0 |
| 96 | Arrhythmogenic right ventricular dysplasia 9 | 5 | 2 | 3 | 2 |
| 97 | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy | 5 | 1 | 5 | 0 |
| 98 | Chronic Pancreatitis | 421 | 19 | 414 | 7 |
| 99 | Congenital erythropoietic porphyria (Gunther disease) | 4 | 2 | 2 | 2 |
| 100 | Congenital nongoitrous hypothyroidism-4 (CHNG4) | 1 | 1 | 1 | 0 |
| 101 | Dilated cardiomyopathy with woolly hair and keratoderma (Carvajal syndrome) | 1 | 1 | 1 | 0 |
| 102 | Factor V deficiency | 5 | 3 | 5 | 0 |
| 103 | Focal dermal hypoplasia (Goltz syndrome) | 1 | 1 | 1 | 0 |
| 104 | Gilbert Syndrome | 129 | 4 | 129 | 0 |
| 105 | Isolated growth hormone deficiency (IGHD) type IA | 35 | 2 | 12 | 23 |
| 106 | Isolated growth hormone deficiency (IGHD) type IB | 29 | 1 | 17 | 12 |
| 107 | Alzheimers | 0 | 0 | 0 | 0 |
| 108 | Autism Spectrum Disorder | 8 | 8 | 8 | 0 |
| 109 | Colorectal Cancer | 0 | 0 | 0 | 0 |
| 110 | Diabetic Retinopathy | 0 | 0 | 0 | 0 |
| 111 | Esophageal Cancer | 0 | 0 | 0 | 0 |
| 112 | Gastric Cancer | 0 | 0 | 0 | 0 |
| 113 | Hepatocellur Cancer | 0 | 0 | 0 | 0 |
| 114 | Lung Cancer | 0 | 0 | 0 | 0 |
| 115 | Prostate Cancer | 0 | 0 | 0 | 0 |
| 116 | Psoriasis | 0 | 0 | 0 | 0 |
| 117 | High Altitude Pulmonary Edema | 24 | 24 | 24 | 0 |
| 118 | Intrauterine Growth Restriction (IUGR) | 21 | 7 | 21 | 0 |
| 119 | Postlingual Hearing Loss | 9 | 1 | 9 | 0 |
| 120 | Hypertrophic Cardiomyopathy | 11 | 11 | 11 | 0 |
| 121 | Myelodysplastic Syndrome | 4 | 3 | 4 | 0 |
| 122 | LHON | 25 | 5 | 25 | 0 |
| 123 | Acyl-CoA Dehydrogenase, Short-Chain | 3 | 1 | 1 | 2 |
| 124 | ADCY5-Related Dyskinesia | 2 | 2 | 2 | 0 |
| 125 | Adrenal Hypoplasia, Congenital | 3 | 3 | 3 | 0 |
| 126 | Alagille Syndrome I | 0 | 0 | 0 | 0 |
| 127 | Alkaptonuria | 0 | 0 | 0 | 0 |
| 128 | Alopecia Totalis With Vitamin D-Dependent Rickets Type 2A | 1 | 1 | 1 | 0 |
| 129 | Alpha-Thalassemiamental Retardation Syndrome, X-Linked_ ATRX | 3 | 1 | 2 | 1 |
| 130 | Alport Syndrome 3 | 1 | 1 | 1 | 0 |
| 131 | Alzheimer Disease 3 | 1 | 1 | 1 | 0 |
| 132 | Ameloblastoma | 1 | 1 | 1 | 0 |
| 133 | Andersen Disease (Gsd IV) | 4 | 3 | 4 | 0 |
| 134 | Androgen Insensitivity, Partial | 34 | 26 | 32 | 2 |
| 135 | Anemia, Sideroblastic, 1 | 6 | 6 | 6 | 0 |
| 136 | Anencephaly 1 | 1 | 1 | 1 | 0 |
| 137 | Angelman Syndrome | 1 | 1 | 1 | 0 |
| 138 | Anophthalmia, Microphthalmia 3 | 1 | 1 | 1 | 0 |
| 139 | Anophthalmia, Microphthalmia 5 | 1 | 1 | 1 | 0 |
| 140 | Anophthalmia, Microphthalmia 15 | 2 | 2 | 2 | 0 |
| 141 | Anti Thrombin III Deficiency | 1 | 1 | 1 | 0 |
| 142 | Apert_S Syndrome | 4 | 2 | 4 | 0 |
| 143 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 | 1 | 1 | 1 | 0 |
| 144 | Arthrogryposis Multiplex Congenita 2, Neurogenic Type | 1 | 1 | 1 | 0 |
| 145 | Arthrogryposis, Distal, Type 5D | 4 | 3 | 4 | 0 |
| 146 | Ataxia Telangiectasia | 16 | 9 | 16 | 0 |
| 147 | Bardet-Biedl Syndrome 3 | 5 | 3 | 5 | 0 |
| 148 | Bardet-Biedl Syndrome 5 | 1 | 1 | 1 | 0 |
| 149 | Bardet-Biedl Syndrome 10 | 4 | 3 | 4 | 0 |
| 150 | Bartter Syndrome, Type 2 | 4 | 3 | 4 | 0 |
| 151 | Best Disease (Vitelliform Macular Dystrophy 2) | 3 | 1 | 3 | 0 |
| 152 | Birt-Hogg-Dubé Syndrome | 3 | 1 | 3 | 0 |
| 153 | Blackfan-Diamond Disease 1 | 0 | 0 | 0 | 0 |
| 154 | Blackfan-Diamond Disease 6 | 1 | 1 | 1 | 0 |
| 155 | Blackfan-Diamond Disease 10 | 0 | 0 | 0 | 0 |
| 156 | Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome | 1 | 1 | 0 | 0 |
| 157 | Bohring-Opitz Syndrom | 0 | 0 | 0 | 0 |
| 158 | Campomelic Dysplasia | 1 | 1 | 1 | 0 |
| 159 | Camptodactyly-Arthropathy-Coxavara-Pericarditis Syndrome (Common Mutation) | 0 | 0 | 0 | 0 |
| 160 | Canavan Disease | 5 | 5 | 0 | 0 |
| 161 | Carasil | 1 | 1 | 1 | 0 |
| 162 | Cardiomyopathy, Dilated, 1A | 0 | 0 | 0 | 0 |
| 163 | Cardiomyopathy, Dilated, 1DD | 1 | 1 | 1 | 0 |
| 164 | Cardiomyopathy, Dilated, 1I | 1 | 1 | 1 | 0 |
| 165 | Cardiomyopathy, Dilated, 1NN | 7 | 1 | 7 | 0 |
| 166 | Cardiomyopathy, Dilated, 1S | 36 | 11 | 36 | 0 |
| 167 | Cartilage Hair Hypoplasia | 1 | 1 | 0 | 0 |
| 168 | Cataract, Autosomal Recessive Congenital 2 | 1 | 1 | 1 | 0 |
| 169 | Cataract, Autosomal Recessive Congenital 4 | 1 | 1 | 0 | 0 |
| 170 | Cataract, Autosomal Recessive Congenital 1 | 9 | 3 | 9 | 0 |
| 171 | Cataract, Congenital Lamellar | 1 | 1 | 1 | 0 |
| 172 | Cataract, Congenital, Cerulean Type, 2_ CCA2 | 10 | 6 | 10 | 0 |
| 173 | Cataract, Congenital, Cerulean Type, 3_ CCA3 | 17 | 4 | 17 | 0 |
| 174 | Cataract, Congenital, Cerulean Type, 4 | 1 | 1 | 1 | 0 |
| 175 | Cataract, Congenital Nuclear, Autosomal Recessive 3 | 16 | 10 | 16 | 0 |
| 176 | CDG Syndrome | 1 | 1 | 1 | 0 |
| 177 | Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts | 1 | 1 | 1 | 0 |
| 178 | Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 | 1 | 1 | 0 | 0 |
| 179 | Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy | 1 | 1 | 0 | 0 |
| 180 | Chanarin-Dorfman Syndrome | 2 | 2 | 2 | 0 |
| 181 | Charcot-Marie-Tooth Disease, Axonal, Type 2F | 3 | 2 | 3 | 0 |
| 182 | Charcot-Marie-Tooth Disease, Recessive Intermediate C | 2 | 2 | 2 | 0 |
| 183 | Charcot-Marie-Tooth Disease, Type 4C | 4 | 4 | 4 | 0 |
| 184 | Chediak Higashi Syndrome | 1 | 1 | 0 | 0 |
| 185 | Chondrodysplasia Punctata Rhizomelic Type 1 | 2 | 1 | 2 | 0 |
| 186 | Chst3 Related Disorder (Sed- Omani) | 2 | 2 | 0 | 0 |
| 187 | Ciliary Dyskinesia, Primary, 1 | 1 | 1 | 1 | 0 |
| 188 | Ciliary Dyskinesia, Primary, 5 | 2 | 1 | 2 | 0 |
| 189 | Ciliary Dyskinesia, Primary, 21 | 1 | 1 | 1 | 0 |
| 190 | Clouston Syndrome | 2 | 2 | 2 | 0 |
| 191 | Cohen Syndrome | 1 | 1 | 0 | 0 |
| 192 | Coloboma | 2 | 2 | 2 | 0 |
| 193 | Common Variable Immunodeficiency 10 | 1 | 1 | 1 | 0 |
| 194 | Congenital Contractural Arachnodactyly | 1 | 1 | 0 | 0 |
| 195 | Congenital Dislocation Of Hip | 1 | 1 | 1 | 0 |
| 196 | Corneal Dystrophy Avellino Type | 5 | 1 | 5 | 0 |
| 197 | Creutzfeldt-Jakob Disease (CJD) | 2 | 2 | 2 | 0 |
| 198 | Criggler Najjar Syndrome_Type 2 | 1 | 1 | 1 | 0 |
| 199 | Crouzon Disease | 1 | 1 | 1 | 0 |
| 200 | Cystinosis | 1 | 1 | 0 | 0 |
| 201 | Diabetes Mellitus Permanent Neonatal (PNDM2) | 26 | 10 | 26 | 0 |
| 202 | Diabetes Mellitus, Permanent Neonatal 1 | 7 | 3 | 7 | 0 |
| 203 | Diabetes Mellitus, Transient Neonatal, 2 | 3 | 3 | 3 | 0 |
| 204 | Diabetes Mellitus,Permanent Neonatal (PNDM3) Dominant | 17 | 13 | 16 | 0 |
| 205 | Diabetes Mellitus,Permanent Neonatal(PNDM4) Dominant | 10 | 8 | 10 | 0 |
| 206 | Diabetes,Transient Neonatal 3 (TNDM3) | 5 | 2 | 4 | 1 |
| 207 | Diastrophic Dysplasia | 1 | 1 | 1 | 0 |
| 208 | Distal Myopathy 5 | 1 | 1 | 1 | 0 |
| 209 | Dominant Persistent Hyperinsulinemic Hypoglycemia Of Infancy | 9 | 7 | 9 | 0 |
| 210 | Dubin Johnson Syndrome | 1 | 1 | 1 | 0 |
| 211 | Dysferlinopathy | 2 | 1 | 2 | 0 |
| 212 | Dyskeratosis Congenita, X-Linked | 4 | 2 | 2 | 2 |
| 213 | Dystonia 1 Or Early-Onset Torsion Dystonia | 6 | 1 | 6 | 0 |
| 214 | Dystonia 6 Or Torsion Dystonia | 2 | 2 | 2 | 0 |
| 215 | Dystonia 11 Or Sarcoglycanopathy, Epsilon | 5 | 3 | 5 | 0 |
| 216 | Dystonia 12 | 7 | 7 | 7 | 0 |
| 217 | Dystonia 25 | 1 | 1 | 1 | 0 |
| 218 | Dystonia 27 | 2 | 2 | 2 | 0 |
| 219 | Dystonia, Dopa-Responsive | 6 | 3 | 6 | 0 |
| 220 | Early Onset Cutaneous Sarcoidosis Or Blau Syndrome | 1 | 1 | 1 | 0 |
| 221 | Ectopia Lentis Isolated 1 | 1 | 1 | 1 | 0 |
| 222 | Epilepsy, Progressive Myoclonic 7 | 1 | 1 | 1 | 0 |
| 223 | Factor VII Deficiency Congenital | 5 | 1 | 5 | 0 |
| 224 | Factor X Deficiency | 10 | 8 | 10 | 0 |
| 225 | Factor XI Deficiency | 3 | 3 | 3 | 0 |
| 226 | Familial Amyloid Neuropathy | 6 | 2 | 1 | 0 |
| 227 | Fibrinogen FGG | 52 | 1 | 52 | 0 |
| 228 | Fibrinogen_FGA | 2 | 1 | 2 | 0 |
| 229 | Fibrinogen_FGB | 3 | 2 | 3 | 0 |
| 230 | Focal Segmental Glomerulosclerosis 1 | 1 | 1 | 1 | 0 |
| 231 | Focal Segmental Glomerulosclerosis 3 | 1 | 1 | 1 | 0 |
| 232 | Focal Segmental Glomerulosclerosis 8 | 1 | 1 | 1 | 0 |
| 233 | Focal Segmental Glomerulosclerosis 9 | 1 | 1 | 1 | 0 |
| 234 | Foot Malformation 4 | 1 | 1 | 1 | 0 |
| 235 | Foot Malformation 6 | 1 | 1 | 1 | 0 |
| 236 | Fraser Syndrome 1 | 1 | 1 | 0 | 0 |
| 237 | Frontotemporal Dementia And_Or Amyotrophic Lateral Sclerosis 1 | 4 | 1 | 4 | 0 |
| 238 | Frontotemporal Dementia And_Or Amyotrophic Lateral Sclerosis 3 | 2 | 1 | 2 | 0 |
| 239 | Frontotemporal Dementia And_Or Amyotrophic Lateral Sclerosis 4 | 1 | 1 | 1 | 0 |
| 240 | Frontotemporal Dementia And_Or Amyotrophic Lateral Sclerosis 7 | 1 | 1 | 1 | 0 |
| 241 | Fructose-1,6-Bisphosphatase Deficiency | 13 | 5 | 13 | 0 |
| 242 | Fuchs Endothelial Corneal Dystrophy | 4 | 4 | 4 | 0 |
| 243 | Fucosidosis | 4 | 1 | 4 | 0 |
| 244 | Galactosemia_GALK | 36 | 5 | 4 | 0 |
| 245 | Galactosemia_GALT | 11 | 1 | 11 | 0 |
| 246 | Galloway-Mowat Syndrome 6 | 1 | 1 | 0 | 0 |
| 247 | Gaucher Disease Type 1 | 10 | 8 | 10 | 0 |
| 248 | Gaucher Disease Type 3 | 1 | 1 | 1 | 0 |
| 249 | Giant Axonal Neuropathy 1 | 3 | 3 | 3 | 0 |
| 250 | Gitelman Syndrome | 1 | 1 | 0 | 0 |
| 251 | Glanzmann Thrombasthenia 1 | 22 | 12 | 22 | 0 |
| 252 | Glanzmann Thrombasthenia 2 | 19 | 16 | 19 | 0 |
| 253 | Glaucoma 3, Primary Congenital, A | 55 | 16 | 55 | 0 |
| 254 | Glaucoma 3, Primary Congenital, D | 4 | 1 | 4 | 0 |
| 255 | Glaucoma, Primary Open Angle | 1 | 1 | 1 | 0 |
| 256 | Glutaric Aciduria Type I | 25 | 5 | 25 | 0 |
| 257 | Glutaryl-Coa Dehydrogenase Deficiency | 5 | 3 | 4 | 0 |
| 258 | Glycogen Storage Disease Type III | 13 | 12 | 13 | 0 |
| 259 | Glycogen Storage Disease Type VI | 1 | 1 | 1 | 0 |
| 260 | GM1 Gangliosidosis | 13 | 2 | 0 | 0 |
| 261 | GNE Myopathy | 58 | 20 | 58 | 0 |
| 262 | Granulomatous Disease, Chronic, X-Linked | 16 | 12 | 14 | 2 |
| 263 | Greig Cephalopolysyndactyly Syndrome | 22 | 5 | 22 | 0 |
| 264 | Growth Hormone Deficiency IV | 17 | 1 | 17 | 0 |
| 265 | Harlequin Ichthyosis | 1 | 1 | 0 | 0 |
| 266 | Hemolytic Anemia Due To Glucose Phosphate Isomerase Deficiency | 17 | 2 | 17 | 0 |
| 267 | Hemolytic Anemia Due To Hexokinase Deficiency | 2 | 2 | 2 | 0 |
| 268 | Hemolytic Anemia, G6PD Deficient | 24 | 12 | 22 | 2 |
| 269 | Hemophagocytic Lymphohistiocytosis, Familial, 2 | 6 | 4 | 6 | 0 |
| 270 | Hemophagocytic Lymphohistiocytosis, Familial, 3 | 1 | 1 | 1 | 0 |
| 271 | Hemophagocytic Lymphohistiocytosis, Familial, 4 | 2 | 1 | 2 | 0 |
| 272 | Hereditary Fructose Intolerance | 3 | 2 | 3 | 0 |
| 273 | Hermansky_3 | 1 | 1 | 0 | 0 |
| 274 | Hermansky_4 | 2 | 2 | 2 | 0 |
| 275 | Homocystinuria | 11 | 9 | 11 | 0 |
| 276 | Hyperkalemic Periodic Paralysis_Type 2 | 1 | 1 | 0 | 0 |
| 277 | Hyperlipidemia_LPL | 1 | 1 | 1 | 0 |
| 278 | Hyperlipoproteinemia_APOA5 | 2 | 1 | 2 | 0 |
| 279 | Hyperoxaluria 1 | 4 | 3 | 4 | 0 |
| 280 | Hyperparathyroidism 1 | 4 | 3 | 4 | 0 |
| 281 | Hyperparathyroidism 2 With Jaw Tumors | 5 | 3 | 5 | 0 |
| 282 | Hyperparathyroidism, Neonatal Severe AD | 2 | 1 | 2 | 0 |
| 283 | Hyperparathyroidism, Neonatal Severe AR | 3 | 3 | 3 | 0 |
| 284 | Hyperprolinemia Type II | 1 | 1 | 1 | 0 |
| 285 | Hypochondroplasia | 1 | 1 | 1 | 0 |
| 286 | Hypokalemic Periodic Paralysis | 1 | 1 | 1 | 0 |
| 287 | Hypophosphatasia | 3 | 1 | 3 | 0 |
| 288 | Hypothyroidism 1 | 6 | 6 | 0 | 0 |
| 289 | Hypothyroidism Type 4 | 2 | 2 | 2 | 0 |
| 290 | Ichthyosis, Congenital, Autosomal Recessive 1 | 4 | 4 | 4 | 0 |
| 291 | Ichthyosis, Congenital, Autosomal Recessive 2 | 1 | 1 | 1 | 0 |
| 292 | Ichthyosis, Congenital, Autosomal Recessive 4A | 1 | 1 | 0 | 0 |
| 293 | Ichthyosis, Congenital, Autosomal Recessive 4B | 1 | 1 | 0 | 0 |
| 294 | Immunodeficiency With Hyper-Igm, Type 3 | 1 | 1 | 0 | 0 |
| 295 | Jansen’s Metaphyseal Chondrodysplasia (JMC) | 3 | 1 | 3 | 0 |
| 296 | Johanson Blizzard Syndrome | 1 | 1 | 0 | 0 |
| 297 | Jouberrt Syndrome 1_INPP5E | 3 | 3 | 3 | 0 |
| 298 | Jouberrt Syndrome 3_AHI1 | 1 | 1 | 1 | 0 |
| 299 | Jouberrt Syndrome 6_TMEM67 | 2 | 1 | 1 | 1 |
| 300 | Jouberrt Syndrome 9_CC2D2A | 1 | 1 | 1 | 0 |
| 301 | Jouberrt Syndrome 14_TMEM237 | 1 | 1 | 1 | 0 |
| 302 | Jouberrt Syndrome 18_TCTN3 | 2 | 2 | 2 | 0 |
| 303 | Jouberrt Syndrome 21_CSPP1 | 2 | 1 | 2 | 0 |
| 304 | Jouberrt Syndrome 24_TCTN2 | 1 | 1 | 0 | 0 |
| 305 | Jouberrt Syndrome 26_KATNIP_KIAA0556 | 1 | 1 | 0 | 0 |
| 306 | Jouberrt Syndrome 30_ARMC9 | 3 | 1 | 3 | 0 |
| 307 | Jouberrt Syndrome 33_PIBF1 | 1 | 1 | 0 | 0 |
| 308 | Jouberrt Syndrome 38_KIAA | 1 | 1 | 1 | 0 |
| 309 | Kallmann Syndrome 2 | 1 | 1 | 1 | 0 |
| 310 | Krabbe Disease | 3 | 3 | 3 | 0 |
| 311 | Kufor Rakeb Syndrome | 4 | 4 | 4 | 0 |
| 312 | Larsen Syndrome | 4 | 4 | 4 | 0 |
| 313 | Lattice Corneal Distrophy Tpye 1 | 41 | 12 | 39 | 2 |
| 314 | Leber Congenital Amaurosis 1 | 19 | 2 | 19 | 0 |
| 315 | Leber Congenital Amaurosis 4 | 9 | 2 | 9 | 0 |
| 316 | Leber Congenital Amaurosis 5 | 6 | 3 | 6 | 0 |
| 317 | Leber Congenital Amaurosis 6 | 5 | 2 | 5 | 0 |
| 318 | Leber Congenital Amaurosis 7 | 5 | 2 | 5 | 0 |
| 319 | Leber Congenital Amaurosis 8 | 18 | 1 | 18 | 0 |
| 320 | Leber Congenital Amaurosis 12 | 1 | 1 | 0 | 0 |
| 321 | Leber Congenital Amaurosis 13 | 11 | 2 | 11 | 0 |
| 322 | Leber Congenital Amaurosis 10 | 1 | 1 | 1 | 0 |
| 323 | Lesch-Nyhan Syndrome | 1 | 1 | 1 | 0 |
| 324 | Leukocyte Adhesion Deficiency, Type I | 27 | 19 | 27 | 0 |
| 325 | Leukodystrophy 6 | 1 | 1 | 1 | 0 |
| 326 | Leukodystrophy 7 | 1 | 1 | 1 | 0 |
| 327 | Leukodystrophy 11 | 1 | 1 | 1 | 0 |
| 328 | Leukodystrophy 17 | 3 | 1 | 3 | 0 |
| 329 | Limb Girdle Muscular Dystrophy 1 Or Type 2A | 22 | 6 | 20 | 2 |
| 330 | Limb Girdle Muscular Dystrophy 7 | 3 | 1 | 3 | 0 |
| 331 | Limb Girdle Muscular Dystrophy 8 | 1 | 1 | 0 | 0 |
| 332 | Limb Girdle Muscular Dystrophy C, 14 | 12 | 1 | 12 | 0 |
| 333 | Lipodystrophy, Berardinelli Type Type 2 | 1 | 1 | 1 | 0 |
| 334 | Long QT Syndrome 3 | 4 | 1 | 4 | 0 |
| 335 | Maple Syrup Urine Disease, Type 1A | 7 | 7 | 7 | 0 |
| 336 | Maple Syrup Urine Disease, Type 1B | 6 | 4 | 6 | 0 |
| 337 | Maple Syrup Urine Disease, Type 2 | 3 | 2 | 3 | 0 |
| 338 | Marfan Syndrome | 9 | 9 | 9 | 0 |
| 339 | Maroteaux-Lamy Syndrome (Mps VI) | 14 | 11 | 14 | 0 |
| 340 | Meckel Syndrome, Type 1 | 1 | 1 | 0 | 0 |
| 341 | Meckel Syndrome, Type 4 | 5 | 3 | 3 | 2 |
| 342 | Meckel Syndrome, Type 6 | 4 | 2 | 2 | 2 |
| 343 | Meckel Syndrome, Type 10 | 1 | 1 | 1 | 0 |
| 344 | Meckel Syndrome, Type 14 | 1 | 1 | 1 | 0 |
| 345 | Meleda Disease | 1 | 1 | 0 | 0 |
| 346 | Menkes Diseases | 3 | 3 | 3 | 0 |
| 347 | Metachromatic Leukodystrophy | 3 | 3 | 0 | 0 |
| 348 | Metachromatic Leukoencephalopathy | 8 | 8 | 8 | 0 |
| 349 | Metaphyseal Dysplasia- Osteosclerotic | 1 | 1 | 0 | 0 |
| 350 | Metatropic Dysplasia | 1 | 1 | 1 | 0 |
| 351 | Methylmalonic_MMAA | 2 | 1 | 2 | 0 |
| 352 | Methylmalonic_MMAB | 4 | 1 | 4 | 0 |
| 353 | Microspherophakia | 5 | 1 | 3 | 2 |
| 354 | Migraine_CACNA1A | 1 | 1 | 1 | 0 |
| 355 | Mitochondrial Complex Iii Deficiency, Nuclear Type 8 | 3 | 2 | 3 | 0 |
| 356 | Mitochondrial Neurogastrointestinalencephalomyopathy (MNGIE) | 2 | 1 | 2 | 0 |
| 357 | MODY1 | 3 | 3 | 3 | 0 |
| 358 | MODY2 | 9 | 8 | 9 | 0 |
| 359 | MODY3 | 13 | 12 | 13 | 0 |
| 360 | MODY4 | 4 | 3 | 4 | 0 |
| 361 | MODY6 | 6 | 5 | 6 | 0 |
| 362 | MODY9 | 1 | 1 | 1 | 0 |
| 363 | MODY10 | 1 | 1 | 1 | 0 |
| 364 | MPS IV Amorquio A | 18 | 1 | 0 | 0 |
| 365 | Muckle-Wells Syndrome | 4 | 3 | 4 | 0 |
| 366 | Mucolipidosis IV | 1 | 1 | 0 | 0 |
| 367 | Mucopolysaccharidoses IVA | 37 | 24 | 19 | 0 |
| 368 | Mucopolysaccharidoses Type I--Hurler | 14 | 8 | 14 | 0 |
| 369 | Mucopolysaccharidoses Type I--Hurler–Scheie | 14 | 9 | 14 | 0 |
| 370 | Mucopolysaccharidosis Type II | 124 | 60 | 107 | 17 |
| 371 | Mucopolysaccharidosis Type III A | 1 | 1 | 1 | 0 |
| 372 | Mucopolysaccharidosis Type VI | 21 | 11 | 21 | 0 |
| 373 | Multiple Endocrine Neoplasia Type 1 | 10 | 8 | 10 | 0 |
| 374 | Multiple Endocrine Neoplasia Type 2 | 12 | 1 | 12 | 0 |
| 375 | Myotonia Congenita | 1 | 1 | 0 | 0 |
| 376 | Myotubulat Myopathy | 1 | 1 | 1 | 0 |
| 377 | Nail-Patella Syndrome | 1 | 1 | 1 | 0 |
| 378 | Nephrotic Syndrome, Type 1 | 13 | 9 | 13 | 0 |
| 379 | Nephrotic Syndrome, Type 3 | 1 | 1 | 1 | 0 |
| 380 | Nephrotic Syndrome, Type 4 | 1 | 1 | 0 | 0 |
| 381 | Nephrotic Syndrome, Type 9 | 1 | 1 | 1 | 0 |
| 382 | Netherton Syndrome | 1 | 1 | 0 | 0 |
| 383 | Neurofibromatosis 1 | 6 | 1 | 6 | 0 |
| 384 | Neurofibromatosis-Noonan Syndrome | 5 | 5 | 5 | 0 |
| 385 | Neutropenia, Type 1 | 7 | 7 | 7 | 0 |
| 386 | Neutropenia, Type 6 | 1 | 1 | 1 | 0 |
| 387 | Niemann-Pick Disease, Type C2 | 1 | 1 | 0 | 0 |
| 388 | Night Blindness, Congenital Stationary, Type 1B | 1 | 1 | 1 | 0 |
| 389 | Night Blindness, Congenital Stationary, Type 1C | 3 | 3 | 3 | 0 |
| 390 | Night Blindness, Congenital Stationary, Type 1D | 2 | 2 | 2 | 0 |
| 391 | Night Blindness, Congenital Stationary, Type 1E | 1 | 1 | 1 | 0 |
| 392 | Nomid | 1 | 1 | 1 | 0 |
| 393 | Non Syndromic Hearing Loss (DFNB1A) | 53 | 37 | 53 | 0 |
| 394 | Noonan Syndrome 1 | 118 | 39 | 118 | 0 |
| 395 | Noonan Syndrome 8 | 33 | 1 | 33 | 0 |
| 396 | Norrie Disease | 14 | 7 | 13 | 1 |
| 397 | Oculo Dentodigital Dysplasia | 1 | 1 | 1 | 0 |
| 398 | Optic Nerve Hypoplasia | 1 | 1 | 1 | 0 |
| 399 | Ornithine Transcarbamylase Deficiency | 13 | 10 | 13 | 0 |
| 400 | Osteogenesis Imperfecta, Type 1 | 12 | 11 | 12 | 0 |
| 401 | Osteogenesis Imperfecta, Type IX | 1 | 1 | 1 | 0 |
| 402 | Osteogenesis Imperfecta, Type VII | 1 | 1 | 1 | 0 |
| 403 | Osteogenesis Imperfecta, Type XI | 1 | 1 | 0 | 0 |
| 404 | Osteogenesis Imperfecta, Type XV | 1 | 1 | 0 | 0 |
| 405 | Osteopetrosis 3 | 1 | 1 | 0 | 0 |
| 406 | Pachyonychia Congenita 2 | 5 | 4 | 5 | 0 |
| 407 | Pachyonychia Congenita 3 | 5 | 3 | 5 | 0 |
| 408 | Palmoplantar Keratoderma 2 | 1 | 1 | 0 | 0 |
| 409 | Palmoplantar Keratoderma With Deafness | 1 | 1 | 1 | 0 |
| 410 | Pantothenate Kinase-Associated Neurodegeneration (PKAN) | 3 | 3 | 3 | 0 |
| 411 | Parkinson Disease 4_ And_Parkinson Disease 1 | 1 | 1 | 1 | 0 |
| 412 | Parkinson Disease 6, Autosomal Recessive Early-Onset | 8 | 8 | 8 | 0 |
| 413 | Parkinson Disease 7, Autosomal Recessive Early-Onset | 18 | 4 | 18 | 0 |
| 414 | Parkinson Disease 20 | 7 | 5 | 7 | 0 |
| 415 | Permanent Neonatal Diabetes Mellitus (PNDM3) Recessive | 5 | 4 | 5 | 0 |
| 416 | Permanent Neonatal Diabetes Mellitus (PNDM4) Recessive | 4 | 3 | 3 | 1 |
| 417 | Persistent Hyperinsulinemic Hypoglycemia In Infants 2 | 3 | 3 | 3 | 0 |
| 418 | Persistent Hyperinsulinemic Hypoglycemia Of Infancy (PHHI) | 5 | 5 | 5 | 0 |
| 419 | PFIC 1 | 2 | 2 | 2 | 0 |
| 420 | PFIC 2 | 15 | 8 | 15 | 0 |
| 421 | PFIC 3 | 2 | 2 | 2 | 0 |
| 422 | PFIC 5 | 1 | 1 | 1 | 0 |
| 423 | Phenylketonuria | 2 | 2 | 2 | 0 |
| 424 | PLA2G6-Associated Neurodegeneration | 1 | 1 | 1 | 0 |
| 425 | Pompe Diseasegsd Type II | 1 | 1 | 1 | 0 |
| 426 | Pontocerebellar Hypoplasia, Type 9 | 1 | 1 | 1 | 0 |
| 427 | Progeria, Hutchinson-Gilford | 4 | 1 | 4 | 0 |
| 428 | Progressive Pseudorheumatoid Dysplasia | 8 | 8 | 1 | 0 |
| 429 | Protein C Deficiency | 2 | 2 | 2 | 0 |
| 430 | Prothrombin Deficiency | 3 | 3 | 3 | 0 |
| 431 | Pyknodysostosis | 5 | 5 | 5 | 0 |
| 432 | Pyridoxinedependent Epilepsy | 4 | 3 | 4 | 0 |
| 433 | Pyruvate Kinase Deficiency | 39 | 21 | 39 | 0 |
| 434 | Rabson-Mendenhall Syndrome | 1 | 1 | 1 | 0 |
| 435 | Recessive Persistent Hyperinsulinemic Hypoglycemia Of Infancy | 21 | 14 | 21 | 0 |
| 436 | Refsum_S Disease | 2 | 1 | 2 | 0 |
| 437 | Renal Agenesis, Bilateral | 10 | 10 | 10 | 0 |
| 438 | Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss | 10 | 9 | 10 | 0 |
| 439 | Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia | 18 | 1 | 18 | 0 |
| 440 | Retinitis Pigmentosa 11 | 10 | 1 | 10 | 0 |
| 441 | Retinitis Pigmentosa 14 | 4 | 2 | 4 | 0 |
| 442 | Retinitis Pigmentosa 19 | 3 | 2 | 3 | 0 |
| 443 | Retinitis Pigmentosa 20 | 1 | 1 | 1 | 0 |
| 444 | Retinitis Pigmentosa 25 | 11 | 11 | 11 | 0 |
| 445 | Retinitis Pigmentosa 28 | 3 | 1 | 3 | 0 |
| 446 | Retinitis Pigmentosa 38 | 3 | 1 | 3 | 0 |
| 447 | Retinitis Pigmentosa 51 | 3 | 1 | 3 | 0 |
| 448 | Retinitis Pigmentosa 85 | 1 | 1 | 0 | 0 |
| 449 | Retinoschisis | 9 | 8 | 9 | 0 |
| 450 | Rett Syndrom | 80 | 39 | 70 | 10 |
| 451 | Roberts Syndrome | 1 | 1 | 0 | 0 |
| 452 | Robinow Syndrome, Autosomal Dominant 2 | 1 | 1 | 0 | 0 |
| 453 | Robinow Syndrome, Autosomal Dominant 3 | 1 | 1 | 1 | 0 |
| 454 | Robinow Syndrome, Autosomal Recessive 1 | 4 | 4 | 4 | 0 |
| 455 | Rothmund Thomson | 1 | 1 | 0 | 0 |
| 456 | Rubinstein-Taybi Syndrome Type 1 | 1 | 1 | 1 | 0 |
| 457 | Rubinstein-Taybi Syndrome Type 2 | 3 | 2 | 3 | 0 |
| 458 | Sakati Syndrome | 1 | 1 | 0 | 0 |
| 459 | Sandhoff Disease | 5 | 5 | 1 | 0 |
| 460 | Schwartz-Jampel Syndrome, Type 1 | 1 | 1 | 0 | 0 |
| 461 | Setleis Syndrome | 1 | 1 | 0 | 0 |
| 462 | Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency | 1 | 1 | 0 | 0 |
| 463 | Severe Combined Immunodeficiency, X-Linked | 2 | 2 | 2 | 0 |
| 464 | Sialidosis 1 | 3 | 3 | 3 | 0 |
| 465 | Sialidosis, Type II | 1 | 1 | 1 | 0 |
| 466 | Sickle Cell Anemia | 1 | 1 | 1 | 0 |
| 467 | Spastic Paraplegia 2, X-Linked | 2 | 1 | 2 | 0 |
| 468 | Spastic Paraplegia 4, Autosomal Dominant | 1 | 1 | 1 | 0 |
| 469 | Spastic Paraplegia 10, Autosomal Dominant | 1 | 1 | 0 | 0 |
| 470 | Spastic Paraplegia 11, Autosomal Recessive | 1 | 1 | 0 | 0 |
| 471 | Spastic Paraplegia 15, Autosomal Recessive | 1 | 1 | 1 | 0 |
| 472 | Spastic Paraplegia 39, Autosomal Recessive | 2 | 2 | 2 | 0 |
| 473 | Spastic Paraplegia 43, Autosomal Recessive | 1 | 1 | 1 | 0 |
| 474 | Spastic Paraplegia 46, Autosomal Recessive | 1 | 1 | 1 | 0 |
| 475 | Spastic Paraplegia 47, Autosomal Recessive | 4 | 2 | 4 | 0 |
| 476 | Spastic Paraplegia 50 | 1 | 1 | 0 | 0 |
| 477 | Spastic Paraplegia 54, Autosomal Recessive | 1 | 1 | 0 | 0 |
| 478 | Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum | 1 | 1 | 0 | 0 |
| 479 | Spherocytosis, Type 1 | 13 | 12 | 13 | 0 |
| 480 | Spherocytosis, Type 2 | 11 | 10 | 11 | 0 |
| 481 | Spherocytosis, Type 3 | 2 | 2 | 2 | 0 |
| 482 | Spherocytosis, Type 4 | 1 | 1 | 0 | 0 |
| 483 | Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 | 1 | 1 | 0 | 0 |
| 484 | Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 | 1 | 1 | 0 | 0 |
| 485 | Spondyloepiphyseal Dysplasia Tarda, X-Linked | 6 | 1 | 3 | 3 |
| 486 | Spondyloepiphyseal Dysplasia, Congenital | 4 | 3 | 4 | 0 |
| 487 | Spondylometaphyseal Dysplasia | 1 | 1 | 0 | 0 |
| 488 | Stargardt Disease 1 | 7 | 7 | 7 | 0 |
| 489 | Stickler Syndrome I | 1 | 1 | 1 | 0 |
| 490 | Tay-Sachs Disease | 29 | 22 | 29 | 0 |
| 491 | Tetralogy Of Fallot | 4 | 4 | 4 | 0 |
| 492 | Three M Syndrome 1 | 1 | 1 | 0 | 0 |
| 493 | Three M Syndrome 2 | 1 | 1 | 0 | 0 |
| 494 | Thrombocytopenic Purpura | 8 | 7 | 5 | 3 |
| 495 | Tooth Agenesis, Selective, 1 | 54 | 2 | 54 | 0 |
| 496 | Tooth Agenesis, Selective, 3 | 9 | 2 | 9 | 0 |
| 497 | Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 | 4 | 2 | 4 | 0 |
| 498 | Tyrosinemia 1 | 6 | 2 | 2 | 4 |
| 499 | Urolithiasis, 2,8-Dihydroxyadenine | 1 | 1 | 1 | 0 |
| 500 | Usher Syndrome, Type I | 1 | 1 | 0 | 0 |
| 501 | Venous Thrombosis (Factor V Leiden) | 2 | 2 | 2 | 0 |
| 502 | Vitamin D-Dependent Rickets (VDDR) Type 1 | 1 | 1 | 1 | 0 |
| 503 | Von Hippel-Lindau Disease | 14 | 11 | 14 | 0 |
| 504 | Von Willebrand Disease | 51 | 34 | 51 | 0 |
| 505 | Waardenburg Syndrome 4B | 2 | 1 | 2 | 0 |
| 506 | Waardenburg Syndrome Type2A | 1 | 1 | 1 | 0 |
| 507 | Warburg Micro Syndrome 1 | 2 | 2 | 2 | 0 |
| 508 | Weill-Marchesani Syndrome 4 | 1 | 1 | 0 | 0 |
| 509 | Werner Syndrome | 2 | 2 | 2 | 0 |
| 510 | Wiedemann Rautenstrauch Syndrome | 1 | 1 | 1 | 0 |
| 511 | Xanthomatosis Cerebrotendinous | 2 | 1 | 2 | 0 |
| 512 | X-Linked Hypophosphatemic Rickets Dominant | 1 | 1 | 1 | 0 |
| 513 | 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome | 1 | 1 | 1 | 0 |
| 514 | 3-Methylglutaconic Aciduria Viii | 1 | 1 | 1 | 0 |
| 515 | Acanthocytosis Chorea | 1 | 1 | 0 | 0 |
| 516 | Achalasia | 1 | 1 | 0 | 0 |
| 517 | Achondrogenesis Type 1A | 1 | 1 | 0 | 0 |
| 518 | Acquired Autoimmune Hemolytic Anemia | 1 | 1 | 1 | 0 |
| 519 | Acrocephalosyndactyly Type V | 5 | 4 | 4 | 0 |
| 520 | Acromesomelic Dysplasia 1 | 2 | 2 | 0 | 0 |
| 521 | Acromesomelic Dysplasia 4 | 1 | 1 | 0 | 0 |
| 522 | A-Isolated growth hormone deficiency (IGHD) type IA | 1 | 1 | 0 | 0 |
| 523 | Aniridia 1 | 1 | 1 | 1 | 0 |
| 524 | Arrhythmogenic right ventricular dysplasia 9 (ARVD9) | 1 | 1 | 1 | 0 |
| 525 | Congenital endothelial dystrophy 2 (CHED) | 17 | 3 | 10 | 7 |
| 526 | Haim-Munk syndrome (HMS) | 1 | 1 | 1 | 0 |
| 527 | Hyperekplexia 3 | 1 | 1 | 0 | 0 |
| 528 | Keratoconus 1 | 12 | 5 | 12 | 0 |
| 529 | Oculocutaneous albinism (OCA)1 | 12 | 12 | 12 | 0 |
| 530 | Oculocutaneous albinism (OCA)4 | 1 | 1 | 0 | 0 |
| 531 | Peutz–Jeghers syndrome | 2 | 1 | 2 | 0 |
| 532 | WILLSON DISEASES | 27 | 18 | 0 | 0 |