| 1 |
Cystic fibrosis |
10,012 |
 |
| 2 |
Sickle-cell disease |
7,671 |
 |
| 3 |
Tay–Sachs disease |
6,241 |
 |
| 4 |
Thalassemia |
5,196 |
 |
| 5 |
Harlequin-type ichthyosis |
4,678 |
 |
| 6 |
Phenylketonuria |
3,578 |
 |
| 7 |
Wilson's disease |
2,168 |
 |
| 8 |
Congenital adrenal hyperplasia |
1,498 |
 |
| 9 |
Sickle cell trait |
1,493 |
 |
| 10 |
Gaucher's disease |
1,336 |
 |
| 11 |
Glycogen storage disease type II |
1,216 |
 |
| 12 |
Methemoglobinemia |
1,183 |
 |
| 13 |
Xeroderma pigmentosum |
1,139 |
 |
| 14 |
Friedreich's ataxia |
1,132 |
 |
| 15 |
Situs inversus |
1,021 |
 |
| 16 |
Familial Mediterranean fever |
916 |
 |
| 17 |
Werner syndrome |
914 |
 |
| 18 |
Maple syrup urine disease |
883 |
 |
| 19 |
Fanconi anemia |
871 |
 |
| 20 |
Niemann–Pick disease |
828 |
 |
| 21 |
Trimethylaminuria |
684 |
 |
| 22 |
Primary ciliary dyskinesia |
669 |
 |
| 23 |
Gastroschisis |
558 |
 |
| 24 |
Mucopolysaccharidosis |
532 |
 |
| 25 |
Hurler syndrome |
523 |
 |
| 26 |
Congenital insensitivity to pain with anhidrosis |
499 |
 |
| 27 |
Hemophagocytic lymphohistiocytosis |
445 |
 |
| 28 |
Alkaptonuria |
437 |
 |
| 29 |
Homocystinuria |
414 |
 |
| 30 |
Usher syndrome |
411 |
 |
| 31 |
Batten disease |
393 |
 |
| 32 |
Morquio syndrome |
377 |
 |
| 33 |
Canavan disease |
374 |
 |
| 34 |
Bloom syndrome |
369 |
 |
| 35 |
Chédiak–Higashi syndrome |
367 |
 |
| 36 |
Cockayne syndrome |
345 |
 |
| 37 |
Craniodiaphyseal dysplasia |
343 |
 |
| 38 |
Bernard–Soulier syndrome |
341 |
 |
| 39 |
Glycogen storage disease type I |
331 |
 |
| 40 |
Krabbe disease |
330 |
 |
| 41 |
Gitelman syndrome |
318 |
 |
| 42 |
Familial dysautonomia |
296 |
 |
| 43 |
Dubin–Johnson syndrome |
286 |
 |
| 44 |
Tetra-amelia syndrome |
284 |
 |
| 45 |
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
279 |
 |
| 46 |
Survival motor neuron spinal muscular atrophy |
261 |
 |
| 47 |
Glanzmann's thrombasthenia |
249 |
 |
| 48 |
Cystinuria |
232 |
 |
| 49 |
Abetalipoproteinemia |
215 |
 |
| 50 |
Sanfilippo syndrome |
214 |
 |
| 51 |
Hartnup disease |
212 |
 |
| 52 |
Cartilage–hair hypoplasia |
204 |
 |
| 53 |
Cystinosis |
203 |
 |
| 54 |
Ochronosis |
196 |
 |
| 55 |
Glycogen storage disease type V |
188 |
 |
| 56 |
Acute fatty liver of pregnancy |
182 |
 |
| 57 |
Methylmalonic acidemia |
178 |
 |
| 58 |
Acrodermatitis enteropathica |
175 |
 |
| 59 |
Pseudoxanthoma elasticum |
172 |
 |
| 60 |
Medium-chain acyl-coenzyme A dehydrogenase deficiency |
170 |
 |
| 61 |
Fumarase deficiency |
169 |
 |
| 62 |
Carnitine palmitoyltransferase II deficiency |
166 |
 |
| 63 |
Refsum disease |
163 |
 |
| 64 |
Tyrosinemia |
159 |
 |
| 65 |
Rotor syndrome |
157 |
 |
| 66 |
Ellis–van Creveld syndrome |
156 |
 |
| 67 |
Metachromatic leukodystrophy |
153 |
 |
| 68 |
Smith-Lemli-Opitz syndrome |
151 |
 |
| 69 |
Laron syndrome |
151 |
 |
| 70 |
Nephronophthisis |
147 |
 |
| 71 |
Meckel syndrome |
142 |
 |
| 72 |
Hermansky–Pudlak syndrome |
139 |
 |
| 73 |
Shwachman–Bodian–Diamond syndrome |
136 |
 |
| 74 |
Glutaric aciduria type 1 |
132 |
 |
| 75 |
Tangier disease |
126 |
 |
| 76 |
Nemaline myopathy |
123 |
 |
| 77 |
Systemic primary carnitine deficiency |
121 |
 |
| 78 |
Chronic progressive external ophthalmoplegia |
121 |
 |
| 79 |
Leukocyte adhesion deficiency |
119 |
 |
| 80 |
Adenosine deaminase deficiency |
117 |
 |
| 81 |
Donohue syndrome |
115 |
 |
| 82 |
Sandhoff disease |
115 |
 |
| 83 |
Oculocutaneous albinism |
114 |
 |
| 84 |
Glycogen storage disease type III |
113 |
 |
| 85 |
D-Glyceric acidemia |
112 |
 |
| 86 |
Propionic acidemia |
111 |
 |
| 87 |
Griscelli syndrome |
111 |
 |
| 88 |
Neuronal ceroid lipofuscinosis |
107 |
 |
| 89 |
Citrullinemia |
106 |
 |
| 90 |
Phosphofructokinase deficiency |
104 |
 |
| 91 |
Lamellar ichthyosis |
103 |
 |
| 92 |
Carpenter syndrome |
101 |
 |
| 93 |
Walker-Warburg syndrome |
100 |
 |
| 94 |
Niemann-Pick disease, type C |
97 |
 |
| 95 |
Mismatch repair cancer syndrome |
93 |
 |
| 96 |
Lafora disease |
91 |
 |
| 97 |
Laurence–Moon syndrome |
89 |
 |
| 98 |
GM2 gangliosidoses |
85 |
 |
| 99 |
Dubowitz syndrome |
85 |
 |
| 100 |
Diastrophic dysplasia |
84 |
 |
| 101 |
Wolman disease |
82 |
 |
| 102 |
Pendred syndrome |
79 |
 |
| 103 |
Ablepharon macrostomia syndrome |
79 |
 |
| 104 |
17-beta-hydroxysteroid dehydrogenase deficiency |
78 |
 |
| 105 |
Fraser syndrome |
75 |
 |
| 106 |
Antley-Bixler syndrome |
75 |
 |
| 107 |
Mucolipidosis |
74 |
 |
| 108 |
Netherton syndrome |
74 |
 |
| 109 |
Endocardial fibroelastosis |
73 |
 |
| 110 |
Succinic semialdehyde dehydrogenase deficiency |
72 |
 |
| 111 |
Chondrodystrophy |
70 |
 |
| 112 |
Isovaleric acidemia |
69 |
 |
| 113 |
Biotinidase deficiency |
69 |
 |
| 114 |
Gangliosidosis |
66 |
 |
| 115 |
Triple-A syndrome |
65 |
 |
| 116 |
Bare lymphocyte syndrome |
65 |
 |
| 117 |
Kostmann syndrome |
64 |
 |
| 118 |
Jervell and Lange-Nielsen syndrome |
63 |
 |
| 119 |
Apparent mineralocorticoid excess syndrome |
63 |
 |
| 120 |
Dihydropyrimidine dehydrogenase deficiency |
62 |
 |
| 121 |
Compound heterozygosity |
62 |
 |
| 122 |
Persistent Mullerian duct syndrome |
61 |
 |
| 123 |
IBIDS syndrome |
59 |
 |
| 124 |
Congenital ichthyosiform erythroderma |
58 |
 |
| 125 |
Pycnodysostosis |
56 |
 |
| 126 |
Omenn syndrome |
55 |
 |
| 127 |
Urbach–Wiethe disease |
54 |
 |
| 128 |
GM1 gangliosidoses |
53 |
 |
| 129 |
Johanson–Blizzard syndrome |
53 |
 |
| 130 |
Farber disease |
52 |
 |
| 131 |
3-Methylcrotonyl-CoA carboxylase deficiency |
51 |
 |
| 132 |
Mitochondrial neurogastrointestinal encephalopathy syndrome |
50 |
 |
| 133 |
Rothmund–Thomson syndrome |
50 |
 |
| 134 |
Mucolipidosis type IV |
49 |
 |
| 135 |
Lipoid congenital adrenal hyperplasia |
48 |
 |
| 136 |
Carnitine-acylcarnitine translocase deficiency |
48 |
 |
| 137 |
Aceruloplasminemia |
48 |
 |
| 138 |
Purine nucleoside phosphorylase deficiency |
48 |
 |
| 139 |
Type I tyrosinemia |
47 |
 |
| 140 |
Tetrahydrobiopterin deficiency |
46 |
 |
| 141 |
Letterer–Siwe disease |
46 |
 |
| 142 |
Roberts syndrome |
46 |
 |
| 143 |
Nijmegen breakage syndrome |
45 |
 |
| 144 |
Papillon–Lefèvre syndrome |
45 |
 |
| 145 |
Galactose-1-phosphate uridylyltransferase galactosemia |
45 |
 |
| 146 |
Woodhouse–Sakati syndrome |
45 |
 |
| 147 |
Adducted thumb syndrome |
44 |
 |
| 148 |
Essential fructosuria |
43 |
 |
| 149 |
Cholesteryl ester storage disease |
42 |
 |
| 150 |
Acatalasia |
42 |
 |
| 151 |
Glutathione synthetase deficiency |
41 |
 |
| 152 |
Senior-Løken syndrome |
41 |
 |
| 153 |
Finnish heritage disease |
41 |
 |
| 154 |
Gunther disease |
40 |
 |
| 155 |
Carnitine palmitoyltransferase I deficiency |
40 |
 |
| 156 |
Mitochondrial trifunctional protein deficiency |
40 |
 |
| 157 |
Lucey-Driscoll syndrome |
40 |
 |
| 158 |
Pseudodominance |
40 |
 |
| 159 |
Tyrosinemia type II |
40 |
 |
| 160 |
Orotic aciduria |
39 |
 |
| 161 |
Fucosidosis |
38 |
 |
| 162 |
Rabson–Mendenhall syndrome |
38 |
 |
| 163 |
Galactokinase deficiency |
38 |
 |
| 164 |
Tyrosinemia type III |
38 |
 |
| 165 |
Marden–Walker syndrome |
38 |
 |
| 166 |
Argininosuccinic aciduria |
37 |
 |
| 167 |
Lecithin cholesterol acyltransferase deficiency |
36 |
 |
| 168 |
Glutaric acidemia type 2 |
35 |
 |
| 169 |
Immunodeficiency–centromeric instability–facial anomalies syndrome |
34 |
 |
| 170 |
Lysinuric protein intolerance |
34 |
 |
| 171 |
Microvillous inclusion disease |
34 |
 |
| 172 |
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency |
33 |
 |
| 173 |
Mulibrey nanism |
33 |
 |
| 174 |
Oguchi disease |
32 |
 |
| 175 |
Salla disease |
31 |
 |
| 176 |
Ochoa syndrome |
31 |
 |
| 177 |
Congenital hepatic fibrosis |
31 |
 |
| 178 |
Aicardi–Goutieres syndrome |
31 |
 |
| 179 |
Alpha-mannosidosis |
30 |
 |
| 180 |
Glucose-galactose malabsorption |
30 |
 |
| 181 |
GM2-gangliosidosis, AB variant |
28 |
 |
| 182 |
Giant axonal neuropathy |
28 |
 |
| 183 |
Cerebrotendineous xanthomatosis |
28 |
 |
| 184 |
CAMFAK syndrome |
28 |
 |
| 185 |
Sly syndrome |
27 |
 |
| 186 |
Chorea acanthocytosis |
27 |
 |
| 187 |
Beta-ketothiolase deficiency |
27 |
 |
| 188 |
N-Acetylglutamate synthase deficiency |
27 |
 |
| 189 |
Carbamoyl phosphate synthetase I deficiency |
27 |
 |
| 190 |
Unverricht–Lundborg disease |
27 |
 |
| 191 |
Atransferrinemia |
27 |
 |
| 192 |
Keutel syndrome |
27 |
 |
| 193 |
Aminolevulinic acid dehydratase deficiency porphyria |
27 |
 |
| 194 |
Renal-hepatic-pancreatic dysplasia |
27 |
 |
| 195 |
Iminoglycinuria |
27 |
 |
| 196 |
Berdon syndrome |
26 |
 |
| 197 |
Abdallat Davis Farrage syndrome |
26 |
 |
| 198 |
Argininemia |
26 |
 |
| 199 |
Carnosinemia |
26 |
 |
| 200 |
BIDS syndrome |
26 |
 |
| 201 |
Cenani Lenz syndactylism |
25 |
 |
| 202 |
Fukuyama congenital muscular dystrophy |
24 |
 |
| 203 |
Guanidinoacetate methyltransferase deficiency |
24 |
 |
| 204 |
Galactosialidosis |
24 |
 |
| 205 |
Oculocutaneous albinism type I |
24 |
 |
| 206 |
Acheiropodia |
23 |
 |
| 207 |
Otospondylomegaepiphyseal dysplasia |
23 |
 |
| 208 |
Ornithine translocase deficiency |
23 |
 |
| 209 |
Hyperprolinemia |
23 |
 |
| 210 |
Weissenbacher-Zweymüller syndrome |
22 |
 |
| 211 |
Blue diaper syndrome |
22 |
 |
| 212 |
Bietti's crystalline dystrophy |
22 |
 |
| 213 |
Very long-chain acyl-coenzyme A dehydrogenase deficiency |
21 |
 |
| 214 |
Behr syndrome |
21 |
 |
| 215 |
2-Hydroxyglutaric aciduria |
21 |
 |
| 216 |
Histidinemia |
21 |
 |
| 217 |
Nezelof syndrome |
21 |
 |
| 218 |
Rapadilino syndrome |
21 |
 |
| 219 |
Arterial tortuosity syndrome |
21 |
 |
| 220 |
Micro syndrome |
21 |
 |
| 221 |
Multiple sulfatase deficiency |
21 |
 |
| 222 |
Adenylosuccinate lyase deficiency |
20 |
 |
| 223 |
Pseudo-Hurler polydystrophy |
20 |
 |
| 224 |
Aspartylglucosaminuria |
20 |
 |
| 225 |
Raine syndrome |
20 |
 |
| 226 |
Triosephosphate isomerase deficiency |
20 |
 |
| 227 |
Hereditary pyropoikilocytosis |
19 |
 |
| 228 |
Adenine phosphoribosyltransferase deficiency |
19 |
 |
| 229 |
Short-chain acyl-coenzyme A dehydrogenase deficiency |
19 |
 |
| 230 |
Pipecolic acidemia |
19 |
 |
| 231 |
Hypermethioninemia |
19 |
 |
| 232 |
Acrocallosal syndrome |
19 |
 |
| 233 |
Abderhalden–Kaufmann–Lignac syndrome |
18 |
 |
| 234 |
Mevalonate kinase deficiency |
18 |
 |
| 235 |
Restrictive dermopathy |
18 |
 |
| 236 |
Oculodentodigital dysplasia |
18 |
 |
| 237 |
Jansky-Bielschowsky disease |
18 |
 |
| 238 |
Holocarboxylase synthetase deficiency |
17 |
 |
| 239 |
Impossible syndrome |
16 |
 |
| 240 |
Vici syndrome |
16 |
 |
| 241 |
Infantile neuroaxonal dystrophy |
16 |
 |
| 242 |
Gillespie syndrome |
16 |
 |
| 243 |
Sabinas brittle hair syndrome |
15 |
 |
| 244 |
Autosomal recessive multiple epiphyseal dysplasia |
15 |
 |
| 245 |
Beta-mannosidosis |
15 |
 |
| 246 |
Gerodermia osteodysplastica |
15 |
 |
| 247 |
Kindler syndrome |
14 |
 |
| 248 |
Pyruvate carboxylase deficiency |
14 |
 |
| 249 |
Aldolase A deficiency |
14 |
 |
| 250 |
Meleda disease |
13 |
 |
| 251 |
ZAP70 deficiency |
13 |
 |
| 252 |
Malonyl-CoA decarboxylase deficiency |
13 |
 |
| 253 |
Galloway Mowat syndrome |
13 |
 |
| 254 |
Zunich–Kaye syndrome |
13 |
 |
| 255 |
Lethal congenital contracture syndrome |
13 |
 |
| 256 |
Zazam Sheriff Phillips syndrome |
12 |
 |
| 257 |
Urocanic aciduria |
12 |
 |
| 258 |
Fibrochondrogenesis |
12 |
 |
| 259 |
Niemann-Pick disease, SMPD1-associated |
12 |
 |
| 260 |
Sugarman syndrome |
11 |
 |
| 261 |
Yunis-Varon syndrome |
11 |
 |
| 262 |
Infantile Refsum disease |
11 |
 |
| 263 |
Hyperlysinemia |
10 |
 |
| 264 |
Cystathioninuria |
10 |
 |
| 265 |
MORM syndrome |
10 |
 |
| 266 |
Hypertryptophanemia |
10 |
 |
| 267 |
Juvenile Primary Lateral Sclerosis |
9 |
 |
| 268 |
Prolidase deficiency |
9 |
 |
| 269 |
Galactose epimerase deficiency |
9 |
 |
| 270 |
EEM syndrome |
9 |
 |
| 271 |
Atelosteogenesis, type II |
8 |
 |
| 272 |
Reproductive compensation |
8 |
 |
| 273 |
Rudiger syndrome |
8 |
 |
| 274 |
Isobutyryl-coenzyme A dehydrogenase deficiency |
7 |
 |
| 275 |
DOOR syndrome |
7 |
 |
| 276 |
Wolcott-Rallison syndrome |
7 |
 |
| 277 |
EAST syndrome |
7 |
 |
| 278 |
Fountain syndrome |
6 |
 |
| 279 |
GAPO syndrome |
6 |
 |
| 280 |
Familial isolated vitamin E deficiency |
6 |
 |
| 281 |
Renal dysplasia-limb defects syndrome |
6 |
 |
| 282 |
Hypervalinemia |
6 |
 |
| 283 |
Kapur-Toriello syndrome |
6 |
 |
| 284 |
6-Pyruvoyltetrahydropterin synthase deficiency |
less than 5 views |
|
| 285 |
Kaufman oculocerebrofacial syndrome |
less than 5 views |
|
| 286 |
Ethylmalonic encephalopathy |
less than 5 views |
|
| 287 |
Sarcosinemia |
less than 5 views |
|
| 288 |
Infantile free sialic acid storage disease |
less than 5 views |
|
| 289 |
Nakajo syndrome |
less than 5 views |
|