| 1 |
Asperger syndrome |
34,933 |
 |
| 2 |
Crohn's disease |
16,475 |
 |
| 3 |
Huntington's disease |
11,574 |
 |
| 4 |
Cystic fibrosis |
10,012 |
 |
| 5 |
Coeliac disease |
9,838 |
 |
| 6 |
Tourette syndrome |
8,907 |
 |
| 7 |
Sickle-cell disease |
7,671 |
 |
| 8 |
Vitiligo |
7,093 |
 |
| 9 |
Marfan syndrome |
7,038 |
 |
| 10 |
Color blindness |
6,365 |
 |
| 11 |
Progeria |
6,202 |
 |
| 12 |
Thalassemia |
5,196 |
 |
| 13 |
Porphyria |
4,960 |
 |
| 14 |
Klinefelter's syndrome |
4,648 |
 |
| 15 |
Haemophilia |
4,563 |
 |
| 16 |
Ehlers–Danlos syndrome |
4,254 |
 |
| 17 |
Muscular dystrophy |
4,210 |
 |
| 18 |
Osteogenesis imperfecta |
3,823 |
 |
| 19 |
Neurofibromatosis |
3,693 |
 |
| 20 |
Prader–Willi syndrome |
3,493 |
 |
| 21 |
List of genetic disorders |
3,460 |
 |
| 22 |
Keratosis pilaris |
3,171 |
 |
| 23 |
Genetic disorder |
2,834 |
 |
| 24 |
Angelman syndrome |
2,816 |
 |
| 25 |
Gilbert's syndrome |
2,693 |
 |
| 26 |
Wolff–Parkinson–White syndrome |
2,678 |
 |
| 27 |
Leucism |
2,317 |
 |
| 28 |
Wilson's disease |
2,168 |
 |
| 29 |
Williams syndrome |
2,021 |
 |
| 30 |
Charcot–Marie–Tooth disease |
1,896 |
 |
| 31 |
Long QT syndrome |
1,823 |
 |
| 32 |
Androgen insensitivity syndrome |
1,775 |
 |
| 33 |
Androgenic alopecia |
1,684 |
 |
| 34 |
Congenital adrenal hyperplasia |
1,498 |
 |
| 35 |
Sickle cell trait |
1,493 |
 |
| 36 |
Polycystic kidney disease |
1,463 |
 |
| 37 |
Spinal muscular atrophy |
1,442 |
 |
| 38 |
Achondroplasia |
1,440 |
 |
| 39 |
Mitochondrial disease |
1,425 |
 |
| 40 |
Alpha 1-antitrypsin deficiency |
1,337 |
 |
| 41 |
Retinitis pigmentosa |
1,296 |
 |
| 42 |
Fructose malabsorption |
1,286 |
 |
| 43 |
Glycogen storage disease type II |
1,216 |
 |
| 44 |
Methemoglobinemia |
1,183 |
 |
| 45 |
Friedreich's ataxia |
1,132 |
 |
| 46 |
Nevus |
1,083 |
 |
| 47 |
Neurofibromatosis type I |
1,069 |
 |
| 48 |
Aneuploidy |
1,039 |
 |
| 49 |
Situs inversus |
1,021 |
 |
| 50 |
Adrenoleukodystrophy |
1,008 |
 |
| 51 |
Gulf War syndrome |
974 |
 |
| 52 |
Lesch–Nyhan syndrome |
949 |
 |
| 53 |
Philadelphia chromosome |
922 |
 |
| 54 |
Familial Mediterranean fever |
916 |
 |
| 55 |
Werner syndrome |
914 |
 |
| 56 |
Brugada syndrome |
913 |
 |
| 57 |
Melanism |
912 |
 |
| 58 |
Sideroblastic anemia |
898 |
 |
| 59 |
Galactosemia |
897 |
 |
| 60 |
Fanconi anemia |
871 |
 |
| 61 |
Trisomy |
852 |
 |
| 62 |
Chronic granulomatous disease |
815 |
 |
| 63 |
Photic sneeze reflex |
813 |
 |
| 64 |
Beckwith–Wiedemann syndrome |
792 |
 |
| 65 |
Kallmann syndrome |
755 |
 |
| 66 |
Chromosome abnormality |
736 |
 |
| 67 |
Erythromelalgia |
701 |
 |
| 68 |
Alport syndrome |
698 |
 |
| 69 |
Severe combined immunodeficiency |
675 |
 |
| 70 |
Primary ciliary dyskinesia |
669 |
 |
| 71 |
Paroxysmal nocturnal hemoglobinuria |
653 |
 |
| 72 |
Ataxia telangiectasia |
652 |
 |
| 73 |
Apert syndrome |
647 |
 |
| 74 |
Cavernous hemangioma |
628 |
 |
| 75 |
Beta-thalassemia |
620 |
 |
| 76 |
Cornelia de Lange Syndrome |
608 |
 |
| 77 |
Bartter syndrome |
566 |
 |
| 78 |
CADASIL syndrome |
560 |
 |
| 79 |
Wiskott–Aldrich syndrome |
547 |
 |
| 80 |
Pfeiffer syndrome |
533 |
 |
| 81 |
Familial adenomatous polyposis |
526 |
 |
| 82 |
McCune–Albright syndrome |
518 |
 |
| 83 |
Bardet–Biedl syndrome |
503 |
 |
| 84 |
Peutz–Jeghers syndrome |
501 |
 |
| 85 |
Haemophilia A |
472 |
 |
| 86 |
Acute intermittent porphyria |
457 |
 |
| 87 |
Crigler–Najjar syndrome |
445 |
 |
| 88 |
Hemophagocytic lymphohistiocytosis |
445 |
 |
| 89 |
Osteopetrosis |
429 |
 |
| 90 |
Usher syndrome |
411 |
 |
| 91 |
Early-onset Alzheimer's disease |
385 |
 |
| 92 |
Personalized medicine |
383 |
 |
| 93 |
Rubinstein–Taybi syndrome |
382 |
 |
| 94 |
Li-Fraumeni syndrome |
371 |
 |
| 95 |
Kennedy's disease |
370 |
 |
| 96 |
Bloom syndrome |
369 |
 |
| 97 |
Chédiak–Higashi syndrome |
367 |
 |
| 98 |
Congenital muscular dystrophy |
363 |
 |
| 99 |
Trinucleotide repeat disorder |
359 |
 |
| 100 |
Zellweger syndrome |
352 |
 |
| 101 |
Cockayne syndrome |
345 |
 |
| 102 |
XXYY syndrome |
345 |
 |
| 103 |
Bernard–Soulier syndrome |
341 |
 |
| 104 |
Deletion (genetics) |
335 |
 |
| 105 |
Glycogen storage disease type I |
331 |
 |
| 106 |
Dyskeratosis congenita |
331 |
 |
| 107 |
Fibrous dysplasia of bone |
324 |
 |
| 108 |
Gitelman syndrome |
318 |
 |
| 109 |
Alexander disease |
310 |
 |
| 110 |
Nevoid basal cell carcinoma syndrome |
305 |
 |
| 111 |
Neurofibromatosis type II |
299 |
 |
| 112 |
Hereditary multiple exostoses |
297 |
 |
| 113 |
Mitochondrial myopathy–encephalopathy–lactic acidosis–stroke syndrome |
290 |
 |
| 114 |
Dubin–Johnson syndrome |
286 |
 |
| 115 |
Haemophilia in European royalty |
281 |
 |
| 116 |
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
279 |
 |
| 117 |
Diamond–Blackfan anemia |
273 |
 |
| 118 |
Survival motor neuron spinal muscular atrophy |
261 |
 |
| 119 |
Multiple endocrine neoplasia type 1 |
259 |
 |
| 120 |
Loeys–Dietz syndrome |
257 |
 |
| 121 |
Familial hemiplegic migraine |
256 |
 |
| 122 |
Hereditary spastic paraplegia |
252 |
 |
| 123 |
Glanzmann's thrombasthenia |
249 |
 |
| 124 |
Microphthalmia |
246 |
 |
| 125 |
Joubert syndrome |
243 |
 |
| 126 |
Kabuki syndrome |
240 |
 |
| 127 |
Hyperimmunoglobulin E syndrome |
239 |
 |
| 128 |
Alpha-thalassemia |
238 |
 |
| 129 |
Aarskog–Scott syndrome |
234 |
 |
| 130 |
Facioscapulohumeral muscular dystrophy |
230 |
 |
| 131 |
Treatment of Crohn's disease |
229 |
 |
| 132 |
Alagille syndrome |
225 |
 |
| 133 |
Caroli disease |
219 |
 |
| 134 |
Dentinogenesis imperfecta |
218 |
 |
| 135 |
Abetalipoproteinemia |
215 |
 |
| 136 |
Amelogenesis imperfecta |
214 |
 |
| 137 |
Ornithine transcarbamylase deficiency |
204 |
 |
| 138 |
Cartilage–hair hypoplasia |
204 |
 |
| 139 |
Cherubism |
199 |
 |
| 140 |
Choroideremia |
197 |
 |
| 141 |
Erythropoietic protoporphyria |
196 |
 |
| 142 |
Myotonia congenita |
195 |
 |
| 143 |
Monosomy |
191 |
 |
| 144 |
Glycogen storage disease type V |
188 |
 |
| 145 |
DNA repair-deficiency disorder |
186 |
 |
| 146 |
Channelopathy |
185 |
 |
| 147 |
1p36 deletion syndrome |
184 |
 |
| 148 |
Acute fatty liver of pregnancy |
182 |
 |
| 149 |
Acrodermatitis enteropathica |
175 |
 |
| 150 |
LEOPARD syndrome |
175 |
 |
| 151 |
Pseudoxanthoma elasticum |
172 |
 |
| 152 |
Urea cycle disorder |
171 |
 |
| 153 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency |
170 |
 |
| 154 |
Juvenile myoclonic epilepsy |
167 |
 |
| 155 |
Carnitine palmitoyltransferase II deficiency |
166 |
 |
| 156 |
Ciliopathy |
162 |
 |
| 157 |
Pyruvate kinase deficiency |
160 |
 |
| 158 |
Hereditary sensory and autonomic neuropathy |
160 |
 |
| 159 |
Ellis–van Creveld syndrome |
156 |
 |
| 160 |
Hyperkalemic periodic paralysis |
151 |
 |
| 161 |
Smith-Lemli-Opitz syndrome |
151 |
 |
| 162 |
Laron syndrome |
151 |
 |
| 163 |
Costello syndrome |
150 |
 |
| 164 |
Nephronophthisis |
147 |
 |
| 165 |
Savior sibling |
145 |
 |
| 166 |
Lethal white syndrome |
144 |
 |
| 167 |
Hypokalemic periodic paralysis |
143 |
 |
| 168 |
Childhood absence epilepsy |
143 |
 |
| 169 |
Hereditary fructose intolerance |
142 |
 |
| 170 |
Meckel syndrome |
142 |
 |
| 171 |
Hypophosphatasia |
140 |
 |
| 172 |
Periodic paralysis |
139 |
 |
| 173 |
Autosomal Dominant Compelling Helioophthalmic Outburst Syndrome |
138 |
 |
| 174 |
HFE hereditary hemochromatosis |
137 |
 |
| 175 |
Antithrombin III deficiency |
137 |
 |
| 176 |
Shwachman–Bodian–Diamond syndrome |
136 |
 |
| 177 |
Fahr's syndrome |
135 |
 |
| 178 |
Thanatophoric dysplasia |
128 |
 |
| 179 |
Tangier disease |
126 |
 |
| 180 |
Pallister–Killian syndrome |
124 |
 |
| 181 |
Hyper IgM syndrome |
121 |
 |
| 182 |
Familial thoracic aortic aneurysm |
120 |
 |
| 183 |
Leukocyte adhesion deficiency |
119 |
 |
| 184 |
Generalized epilepsy with febrile seizures plus |
119 |
 |
| 185 |
Snatiation |
118 |
 |
| 186 |
Adenosine deaminase deficiency |
117 |
 |
| 187 |
Torsion dystonia |
116 |
 |
| 188 |
Donohue syndrome |
115 |
 |
| 189 |
Birt–Hogg–Dubé syndrome |
114 |
 |
| 190 |
WAGR syndrome |
114 |
 |
| 191 |
Glycogen storage disease type III |
113 |
 |
| 192 |
Rolandic epilepsy |
113 |
 |
| 193 |
Griscelli syndrome |
111 |
 |
| 194 |
X-linked severe combined immunodeficiency |
110 |
 |
| 195 |
Dent's disease |
110 |
 |
| 196 |
Bannayan–Riley–Ruvalcaba syndrome |
109 |
 |
| 197 |
List of human genes |
106 |
 |
| 198 |
Phosphofructokinase deficiency |
104 |
 |
| 199 |
Anticipation (genetics) |
104 |
 |
| 200 |
Lamellar ichthyosis |
103 |
 |
| 201 |
22q13 deletion syndrome |
103 |
 |
| 202 |
Hereditary coproporphyria |
101 |
 |
| 203 |
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency |
101 |
 |
| 204 |
Carpenter syndrome |
101 |
 |
| 205 |
McLeod syndrome |
100 |
 |
| 206 |
Machado–Joseph disease |
99 |
 |
| 207 |
Severe combined immunodeficiency (non-human) |
99 |
 |
| 208 |
Robinow syndrome |
97 |
 |
| 209 |
Up Syndrome |
96 |
 |
| 210 |
May-Hegglin anomaly |
95 |
 |
| 211 |
Parry–Romberg syndrome |
94 |
 |
| 212 |
Barth syndrome |
92 |
 |
| 213 |
Collagen disease |
92 |
 |
| 214 |
Lafora disease |
91 |
 |
| 215 |
TAR syndrome |
91 |
 |
| 216 |
Alström syndrome |
91 |
 |
| 217 |
Paroxysmal extreme pain disorder |
90 |
 |
| 218 |
Erythrism |
90 |
 |
| 219 |
Pyruvate dehydrogenase deficiency |
88 |
 |
| 220 |
Cohen syndrome |
87 |
 |
| 221 |
Episodic ataxia |
87 |
 |
| 222 |
Laminopathy |
87 |
 |
| 223 |
Autosomal dominant polycystic kidney |
86 |
 |
| 224 |
Congenital disorder of glycosylation |
86 |
 |
| 225 |
Ponseti method |
86 |
 |
| 226 |
Haemophilia C |
85 |
 |
| 227 |
Emery-Dreifuss muscular dystrophy |
85 |
 |
| 228 |
Dubowitz syndrome |
85 |
 |
| 229 |
Thyroid hormone resistance |
84 |
 |
| 230 |
Diastrophic dysplasia |
84 |
 |
| 231 |
XX gonadal dysgenesis |
83 |
 |
| 232 |
Multiple epiphyseal dysplasia |
83 |
 |
| 233 |
Microorchidism |
81 |
 |
| 234 |
Dejerine-Sottas disease |
80 |
 |
| 235 |
Polycystic liver disease |
80 |
 |
| 236 |
Pendred syndrome |
79 |
 |
| 237 |
Ablepharon macrostomia syndrome |
79 |
 |
| 238 |
Organic acidemia |
79 |
 |
| 239 |
Glycogen storage disease type IV |
78 |
 |
| 240 |
17-beta-hydroxysteroid dehydrogenase deficiency |
78 |
 |
| 241 |
Xanthochromism |
77 |
 |
| 242 |
Hypochondroplasia |
76 |
 |
| 243 |
Fraser syndrome |
75 |
 |
| 244 |
Pearson syndrome |
75 |
 |
| 245 |
Antley-Bixler syndrome |
75 |
 |
| 246 |
Hereditary motor and sensory neuropathy |
75 |
 |
| 247 |
Tetrasomy |
75 |
 |
| 248 |
Activated protein C resistance |
73 |
 |
| 249 |
Coffin-Lowry syndrome |
71 |
 |
| 250 |
Mowat-Wilson syndrome |
71 |
 |
| 251 |
Autosomal dominant nocturnal frontal lobe epilepsy |
71 |
 |
| 252 |
Chondrodystrophy |
70 |
 |
| 253 |
Paramyotonia congenita |
70 |
 |
| 254 |
Juvenile polyposis syndrome |
70 |
 |
| 255 |
Ichthyosis bullosa of Siemens |
69 |
 |
| 256 |
Autosomal recessive polycystic kidney |
67 |
 |
| 257 |
Hyperphenylalanemia |
67 |
 |
| 258 |
Neuroacanthocytosis |
66 |
 |
| 259 |
Cerebellar hypoplasia |
65 |
 |
| 260 |
Bare lymphocyte syndrome |
65 |
 |
| 261 |
Progressive familial intrahepatic cholestasis |
64 |
 |
| 262 |
Adrenomyeloneuropathy |
64 |
 |
| 263 |
Congenital hyperinsulinism |
63 |
 |
| 264 |
Jervell and Lange-Nielsen syndrome |
63 |
 |
| 265 |
Apparent mineralocorticoid excess syndrome |
63 |
 |
| 266 |
Dihydropyrimidine dehydrogenase deficiency |
62 |
 |
| 267 |
Campomelic dysplasia |
62 |
 |
| 268 |
Compound heterozygosity |
62 |
 |
| 269 |
Persistent Mullerian duct syndrome |
61 |
 |
| 270 |
Denys–Drash syndrome |
61 |
 |
| 271 |
Dentatorubral-pallidoluysian atrophy |
58 |
 |
| 272 |
Congenital ichthyosiform erythroderma |
58 |
 |
| 273 |
Amelanism |
58 |
 |
| 274 |
Cardiofaciocutaneous syndrome |
57 |
 |
| 275 |
Muenke syndrome |
57 |
 |
| 276 |
Isodicentric 15 |
56 |
 |
| 277 |
Pycnodysostosis |
56 |
 |
| 278 |
Omenn syndrome |
55 |
 |
| 279 |
Howel–Evans syndrome |
54 |
 |
| 280 |
Myeloperoxidase deficiency |
53 |
 |
| 281 |
Spinocerebellar ataxia type-6 |
53 |
 |
| 282 |
Pseudoachondroplasia |
53 |
 |
| 283 |
Johanson–Blizzard syndrome |
53 |
 |
| 284 |
Andersen–Tawil syndrome |
52 |
 |
| 285 |
ABCD syndrome |
52 |
 |
| 286 |
Diffuse panbronchiolitis |
52 |
 |
| 287 |
Hyper-IgD syndrome |
51 |
 |
| 288 |
Sertoli cell-only syndrome |
50 |
 |
| 289 |
Camurati-Engelmann disease |
50 |
 |
| 290 |
Norrie disease |
49 |
 |
| 291 |
Thomsen disease |
49 |
 |
| 292 |
Lipoid congenital adrenal hyperplasia |
48 |
 |
| 293 |
Carnitine-acylcarnitine translocase deficiency |
48 |
 |
| 294 |
Aceruloplasminemia |
48 |
 |
| 295 |
Asymmetric crying facies |
48 |
 |
| 296 |
1q21.1 deletion syndrome |
47 |
 |
| 297 |
Letterer–Siwe disease |
46 |
 |
| 298 |
Pseudohypoaldosteronism |
46 |
 |
| 299 |
Townes–Brocks syndrome |
46 |
 |
| 300 |
Roberts syndrome |
46 |
 |
| 301 |
Galactose-1-phosphate uridylyltransferase galactosemia |
45 |
 |
| 302 |
Adducted thumb syndrome |
44 |
 |
| 303 |
Xanthinuria |
44 |
 |
| 304 |
Adrenocorticotropic hormone deficiency |
44 |
 |
| 305 |
Nonsyndromic deafness |
43 |
 |
| 306 |
Essential fructosuria |
43 |
 |
| 307 |
Acatalasia |
42 |
 |
| 308 |
Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency |
41 |
 |
| 309 |
Collagenopathy, types II and XI |
41 |
 |
| 310 |
MASS phenotype |
41 |
 |
| 311 |
De Grouchy syndrome |
41 |
 |
| 312 |
Finnish heritage disease |
41 |
 |
| 313 |
Chromosome 15q partial deletion |
40 |
 |
| 314 |
Carnitine palmitoyltransferase I deficiency |
40 |
 |
| 315 |
Mitochondrial trifunctional protein deficiency |
40 |
 |
| 316 |
Lucey-Driscoll syndrome |
40 |
 |
| 317 |
Hypomagnesemia with secondary hypocalcemia |
40 |
 |
| 318 |
Neuropathy, ataxia, and retinitis pigmentosa |
40 |
 |
| 319 |
Barraquer–Simons syndrome |
40 |
 |
| 320 |
Celiac Awareness Month |
40 |
 |
| 321 |
3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
39 |
 |
| 322 |
Orotic aciduria |
39 |
 |
| 323 |
Orofaciodigital syndrome 1 |
39 |
 |
| 324 |
Rabson–Mendenhall syndrome |
38 |
 |
| 325 |
Galactokinase deficiency |
38 |
 |
| 326 |
Weill-Marchesani syndrome |
38 |
 |
| 327 |
Congenital myopathy |
37 |
 |
| 328 |
Banti's syndrome |
36 |
 |
| 329 |
Léri-Weill dyschondrosteosis |
36 |
 |
| 330 |
Lecithin cholesterol acyltransferase deficiency |
36 |
 |
| 331 |
Brunner syndrome |
35 |
 |
| 332 |
Congenital absence of the fibula |
35 |
 |
| 333 |
Danon disease |
35 |
 |
| 334 |
1q21.1 duplication syndrome |
35 |
 |
| 335 |
Disaccharidase |
34 |
 |
| 336 |
Infantile cortical hyperostosis |
34 |
 |
| 337 |
Microvillous inclusion disease |
34 |
 |
| 338 |
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency |
33 |
 |
| 339 |
African iron overload |
33 |
 |
| 340 |
SADDAN |
33 |
 |
| 341 |
Jarcho-Levin syndrome |
33 |
 |
| 342 |
Ichthyosis hystrix |
33 |
 |
| 343 |
Benign familial neonatal convulsions |
32 |
 |
| 344 |
Congenital generalized lipodystrophy |
32 |
 |
| 345 |
Delta-thalassemia |
32 |
 |
| 346 |
Crouzonodermoskeletal syndrome |
31 |
 |
| 347 |
Adams–Oliver syndrome |
31 |
 |
| 348 |
Fazio-Londe disease |
31 |
 |
| 349 |
X-linked congenital stationary night blindness |
31 |
 |
| 350 |
Congenital hepatic fibrosis |
31 |
 |
| 351 |
Alternating hemiplegia of childhood |
30 |
 |
| 352 |
Glucose-galactose malabsorption |
30 |
 |
| 353 |
Scott syndrome |
30 |
 |
| 354 |
Hemoglobin variants |
29 |
 |
| 355 |
Giant axonal neuropathy |
28 |
 |
| 356 |
Craniofrontonasal syndrome |
28 |
 |
| 357 |
Potassium-aggravated myotonia |
28 |
 |
| 358 |
CAMFAK syndrome |
28 |
 |
| 359 |
Chorea acanthocytosis |
27 |
 |
| 360 |
Atransferrinemia |
27 |
 |
| 361 |
Aminolevulinic acid dehydratase deficiency porphyria |
27 |
 |
| 362 |
Renal-hepatic-pancreatic dysplasia |
27 |
 |
| 363 |
Berdon syndrome |
26 |
 |
| 364 |
Hypochondrogenesis |
26 |
 |
| 365 |
Abdallat Davis Farrage syndrome |
26 |
 |
| 366 |
Congenital contractural arachnodactyly |
26 |
 |
| 367 |
Coffin–Siris syndrome |
26 |
 |
| 368 |
Barakat syndrome |
25 |
 |
| 369 |
3-Methylglutaconic aciduria |
25 |
 |
| 370 |
Schindler disease |
25 |
 |
| 371 |
Aase syndrome |
24 |
 |
| 372 |
Fitzsimmons-Guilbert syndrome |
24 |
 |
| 373 |
Miller syndrome |
24 |
 |
| 374 |
Otospondylomegaepiphyseal dysplasia |
23 |
 |
| 375 |
Sakati-Nyhan-Tisdale syndrome |
23 |
 |
| 376 |
Chromosome 15q trisomy |
22 |
 |
| 377 |
X-linked adrenal hypoplasia congenita |
22 |
 |
| 378 |
Blue diaper syndrome |
22 |
 |
| 379 |
Kathryn McGee |
22 |
 |
| 380 |
Very long-chain acyl-coenzyme A dehydrogenase deficiency |
21 |
 |
| 381 |
Behr syndrome |
21 |
 |
| 382 |
Nezelof syndrome |
21 |
 |
| 383 |
Arterial tortuosity syndrome |
21 |
 |
| 384 |
Confluent and reticulated papillomatosis of Gougerot and Carteaud |
21 |
 |
| 385 |
Huntington's disease clinical research |
21 |
 |
| 386 |
Polysomy |
20 |
 |
| 387 |
Adenylosuccinate lyase deficiency |
20 |
 |
| 388 |
Estrogen insensitivity syndrome |
20 |
 |
| 389 |
3-hydroxyacyl-coenzyme A dehydrogenase deficiency |
20 |
 |
| 390 |
Hereditary pyropoikilocytosis |
19 |
 |
| 391 |
Adenine phosphoribosyltransferase deficiency |
19 |
 |
| 392 |
Young Simpson syndrome |
19 |
 |
| 393 |
Acrocallosal syndrome |
19 |
 |
| 394 |
Pitt-Hopkins syndrome |
19 |
 |
| 395 |
Abderhalden–Kaufmann–Lignac syndrome |
18 |
 |
| 396 |
Mevalonate kinase deficiency |
18 |
 |
| 397 |
Oculodentodigital dysplasia |
18 |
 |
| 398 |
X-linked alpha thalassemia mental retardation syndrome |
17 |
 |
| 399 |
Exinct |
17 |
 |
| 400 |
Impossible syndrome |
16 |
 |
| 401 |
Vici syndrome |
16 |
 |
| 402 |
Infantile neuroaxonal dystrophy |
16 |
 |
| 403 |
Bazex–Dupré–Christol syndrome |
16 |
 |
| 404 |
Tetrasomy 9p |
16 |
 |
| 405 |
Congenital fibrosis of the extraocular muscles |
16 |
 |
| 406 |
Sabinas brittle hair syndrome |
15 |
 |
| 407 |
Autosomal recessive multiple epiphyseal dysplasia |
15 |
 |
| 408 |
Duane-radial ray syndrome |
15 |
 |
| 409 |
Tetrasomy 18p |
15 |
 |
| 410 |
Revesz syndrome |
15 |
 |
| 411 |
Rud syndrome |
15 |
 |
| 412 |
Gerodermia osteodysplastica |
15 |
 |
| 413 |
Ichthyosis follicularis with alopecia and photophobia syndrome |
15 |
 |
| 414 |
Nullisomic |
14 |
 |
| 415 |
Catel–Manzke syndrome |
14 |
 |
| 416 |
Frontotemporal dementia and parkinsonism linked to chromosome 17 |
14 |
 |
| 417 |
Kindler syndrome |
14 |
 |
| 418 |
Pyruvate carboxylase deficiency |
14 |
 |
| 419 |
Guevodoces |
14 |
 |
| 420 |
Aldolase A deficiency |
14 |
 |
| 421 |
Paroxysmal nonkinesigenic dyskinesia |
14 |
 |
| 422 |
Schinzel–Giedion syndrome |
14 |
 |
| 423 |
Lentiginosis |
14 |
 |
| 424 |
Congenital dyserythropoietic anemia |
14 |
 |
| 425 |
ZAP70 deficiency |
13 |
 |
| 426 |
Threshold expression |
13 |
 |
| 427 |
Galloway Mowat syndrome |
13 |
 |
| 428 |
Bare lymphocyte syndrome 2 |
13 |
 |
| 429 |
Acrodysostosis |
13 |
 |
| 430 |
Zunich–Kaye syndrome |
13 |
 |
| 431 |
Urban-Rogers-Meyer syndrome |
13 |
 |
| 432 |
Winchester syndrome |
13 |
 |
| 433 |
Lethal congenital contracture syndrome |
13 |
 |
| 434 |
Patterson syndrome |
12 |
 |
| 435 |
Dyschromatosis universalis hereditaria |
12 |
 |
| 436 |
Distal Trisomy 10q |
12 |
 |
| 437 |
Zazam Sheriff Phillips syndrome |
12 |
 |
| 438 |
Fibrochondrogenesis |
12 |
 |
| 439 |
Saccharopinuria |
11 |
 |
| 440 |
Sugarman syndrome |
11 |
 |
| 441 |
Polychromia |
11 |
 |
| 442 |
Yunis-Varon syndrome |
11 |
 |
| 443 |
Erondu–Cymet syndrome |
11 |
 |
| 444 |
Hemoglobin Lepore syndrome |
11 |
 |
| 445 |
2q37 deletion syndrome |
10 |
 |
| 446 |
Hyper-IgM syndrome type 3 |
10 |
 |
| 447 |
Paris-Trousseau syndrome |
10 |
 |
| 448 |
Van Goethem syndrome |
9 |
 |
| 449 |
Juvenile Primary Lateral Sclerosis |
9 |
 |
| 450 |
Quebec Platelet Disorder |
9 |
 |
| 451 |
EEM syndrome |
9 |
 |
| 452 |
Cooks syndrome |
9 |
 |
| 453 |
3q29 microdeletion syndrome |
9 |
 |
| 454 |
Atelosteogenesis, type II |
8 |
 |
| 455 |
Bangstad syndrome |
8 |
 |
| 456 |
Neonatal hemochromatosis |
8 |
 |
| 457 |
Keppen-Lubinsky Syndrome |
8 |
 |
| 458 |
Reproductive compensation |
8 |
 |
| 459 |
Hyper-IgM syndrome type 4 |
8 |
 |
| 460 |
Ayazi syndrome |
7 |
 |
| 461 |
3 methylcrotonic aciduria |
7 |
 |
| 462 |
2-Methylbutyryl-CoA dehydrogenase deficiency |
7 |
 |
| 463 |
Alpha-thalassemia mental retardation syndrome |
7 |
 |
| 464 |
Obligate carrier |
7 |
 |
| 465 |
Penta X syndrome |
7 |
 |
| 466 |
DOOR syndrome |
7 |
 |
| 467 |
EAST syndrome |
7 |
 |
| 468 |
Singleton Merten syndrome |
7 |
 |
| 469 |
Fountain syndrome |
6 |
 |
| 470 |
Familial isolated vitamin E deficiency |
6 |
 |
| 471 |
Ring chromosome 18 syndrome |
6 |
 |
| 472 |
Celiac Sprue Association (CSA) |
6 |
 |
| 473 |
Rombo syndrome |
6 |
 |
| 474 |
Exner syndrome |
6 |
 |
| 475 |
Enolase deficiency |
6 |
 |
| 476 |
Dunnigan familial partial lipodystrophy |
6 |
 |
| 477 |
GMS syndrome |
6 |
 |
| 478 |
Kaufman oculocerebrofacial syndrome |
less than 5 views |
|
| 479 |
Spinocerebellar ataxia type-13 |
less than 5 views |
|
| 480 |
Partial monosomy 13q |
less than 5 views |
|
| 481 |
Calciumopathy |
less than 5 views |
|
| 482 |
Acytosiosis |
less than 5 views |
|
| 483 |
Batten mayou |
less than 5 views |
|
| 484 |
Genetic disorders |
less than 5 views |
|
| 485 |
Human genes |
less than 5 views |
|
| 486 |
3 hydroxyisobutyric aciduria |
less than 5 views |
|
| 487 |
Bhaskar Jagannathan syndrome |
less than 5 views |
|
| 488 |
Ethylmalonic encephalopathy |
less than 5 views |
|
| 489 |
Allan-Herndon-Dudley syndrome |
less than 5 views |
|
| 490 |
Lelis syndrome |
less than 5 views |
|
| 491 |
Infantile free sialic acid storage disease |
less than 5 views |
|
| 492 |
Hemophilia organizations |
less than 5 views |
|
| 493 |
Haploid-relative-risk |
less than 5 views |
|
| 494 |
Lethal arthrogryposis with anterior horn cell disease |
less than 5 views |
|
| 495 |
Bamforth–Lazarus syndrome |
less than 5 views |
|
| 496 |
Monosomy 14 |
less than 5 views |
|
| 497 |
Aniridia ataxia renal agenesis psychomotor retardation |
less than 5 views |
|
| 498 |
17q21.3 recurrent microdeletion syndrome |
less than 5 views |
|
| 499 |
8p23.1 duplication syndrome |
less than 5 views |
|