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: eHDSI Rare Disease - XML Representation

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<ValueSet xmlns="http://hl7.org/fhir">
  <id value="eHDSIRareDisease"/>
  <text>
    <status value="generated"/>
    <div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: ValueSet eHDSIRareDisease</b></p><a name="eHDSIRareDisease"> </a><a name="hceHDSIRareDisease"> </a><a name="eHDSIRareDisease-en-US"> </a><ul><li>Include these codes as defined in <code>urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.44.5</code><table class="none"><tr><td style="white-space:nowrap"><b>Code</b></td><td><b>Display</b></td></tr><tr><td>5</td><td>Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency</td></tr><tr><td>6</td><td>3-methylcrotonyl-CoA carboxylase deficiency</td></tr><tr><td>7</td><td>3C syndrome</td></tr><tr><td>8</td><td>47,XYY syndrome</td></tr><tr><td>9</td><td>Tetrasomy X</td></tr><tr><td>10</td><td>48,XXYY syndrome</td></tr><tr><td>11</td><td>Pentasomy X</td></tr><tr><td>13</td><td>6-pyruvoyl-tetrahydropterin synthase deficiency</td></tr><tr><td>14</td><td>Abetalipoproteinemia</td></tr><tr><td>15</td><td>Achondroplasia</td></tr><tr><td>16</td><td>Blue cone monochromatism</td></tr><tr><td>17</td><td>Fatal infantile lactic acidosis with methylmalonic aciduria</td></tr><tr><td>18</td><td>Distal renal tubular acidosis</td></tr><tr><td>20</td><td>3-hydroxy-3-methylglutaric aciduria</td></tr><tr><td>22</td><td>Succinic semialdehyde dehydrogenase deficiency</td></tr><tr><td>23</td><td>Argininosuccinic aciduria</td></tr><tr><td>24</td><td>Fumaric aciduria</td></tr><tr><td>25</td><td>Glutaryl-CoA dehydrogenase deficiency</td></tr><tr><td>26</td><td>Methylmalonic acidemia with homocystinuria</td></tr><tr><td>27</td><td>Vitamin B12-unresponsive methylmalonic acidemia</td></tr><tr><td>28</td><td>Vitamin B12-responsive methylmalonic acidemia</td></tr><tr><td>29</td><td>Mevalonic aciduria</td></tr><tr><td>30</td><td>Hereditary orotic aciduria</td></tr><tr><td>31</td><td>Oxoglutaric aciduria</td></tr><tr><td>32</td><td>Glutathione synthetase deficiency</td></tr><tr><td>33</td><td>Isovaleric acidemia</td></tr><tr><td>35</td><td>Propionic acidemia</td></tr><tr><td>36</td><td>Acrocallosal syndrome</td></tr><tr><td>37</td><td>Acrodermatitis enteropathica</td></tr><tr><td>38</td><td>Acrokeratoelastoidosis of Costa</td></tr><tr><td>39</td><td>Acromelanosis</td></tr><tr><td>40</td><td>Acromesomelic dysplasia, Maroteaux type</td></tr><tr><td>41</td><td>Dyschromatosis symmetrica hereditaria</td></tr><tr><td>42</td><td>Medium chain acyl-CoA dehydrogenase deficiency</td></tr><tr><td>43</td><td>X-linked adrenoleukodystrophy</td></tr><tr><td>44</td><td>Neonatal adrenoleukodystrophy</td></tr><tr><td>45</td><td>Adenosine monophosphate deaminase deficiency</td></tr><tr><td>46</td><td>Adenylosuccinate lyase deficiency</td></tr><tr><td>47</td><td>X-linked agammaglobulinemia</td></tr><tr><td>48</td><td>Congenital bilateral absence of vas deferens</td></tr><tr><td>49</td><td>Penile agenesis</td></tr><tr><td>50</td><td>Aicardi syndrome</td></tr><tr><td>51</td><td>Aicardi-Goutières syndrome</td></tr><tr><td>52</td><td>Alagille syndrome</td></tr><tr><td>53</td><td>Albers-Schönberg osteopetrosis</td></tr><tr><td>54</td><td>X-linked recessive ocular albinism</td></tr><tr><td>56</td><td>Alkaptonuria</td></tr><tr><td>57</td><td>Glycogen storage disease due to aldolase A deficiency</td></tr><tr><td>58</td><td>Alexander disease</td></tr><tr><td>59</td><td>Allan-Herndon-Dudley syndrome</td></tr><tr><td>60</td><td>Alpha-1-antitrypsin deficiency</td></tr><tr><td>61</td><td>Alpha-mannosidosis</td></tr><tr><td>62</td><td>Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3</td></tr><tr><td>63</td><td>Alport syndrome</td></tr><tr><td>64</td><td>Alström syndrome</td></tr><tr><td>65</td><td>Leber congenital amaurosis</td></tr><tr><td>67</td><td>Amoebiasis due to Entamoeba histolytica</td></tr><tr><td>68</td><td>Amoebiasis due to free-living amoebae</td></tr><tr><td>70</td><td>Proximal spinal muscular atrophy</td></tr><tr><td>71</td><td>Chylomicron retention disease</td></tr><tr><td>72</td><td>Angelman syndrome</td></tr><tr><td>73</td><td>Gorham-Stout disease</td></tr><tr><td>74</td><td>Angiostrongyliasis</td></tr><tr><td>76</td><td>Strongyloidiasis</td></tr><tr><td>78</td><td>Ankylostomiasis</td></tr><tr><td>79</td><td>Congenital alpha2-antiplasmin deficiency</td></tr><tr><td>80</td><td>Antiphospholipid syndrome</td></tr><tr><td>81</td><td>Antisynthetase syndrome</td></tr><tr><td>82</td><td>Hereditary thrombophilia due to congenital antithrombin deficiency</td></tr><tr><td>83</td><td>Antley-Bixler syndrome</td></tr><tr><td>84</td><td>Fanconi anemia</td></tr><tr><td>86</td><td>Familial abdominal aortic aneurysm</td></tr><tr><td>87</td><td>Apert syndrome</td></tr><tr><td>88</td><td>Idiopathic aplastic anemia</td></tr><tr><td>90</td><td>Argininemia</td></tr><tr><td>91</td><td>Aromatase deficiency</td></tr><tr><td>93</td><td>Aspartylglucosaminuria</td></tr><tr><td>95</td><td>Friedreich ataxia</td></tr><tr><td>96</td><td>Ataxia with vitamin E deficiency</td></tr><tr><td>97</td><td>Familial paroxysmal ataxia</td></tr><tr><td>98</td><td>Autosomal recessive spastic ataxia of Charlevoix-Saguenay</td></tr><tr><td>100</td><td>Ataxia-telangiectasia</td></tr><tr><td>101</td><td>Dentatorubral pallidoluysian atrophy</td></tr><tr><td>102</td><td>Multiple system atrophy</td></tr><tr><td>104</td><td>Leber hereditary optic neuropathy</td></tr><tr><td>105</td><td>Atresia of urethra</td></tr><tr><td>107</td><td>BOR syndrome</td></tr><tr><td>108</td><td>Babesiosis</td></tr><tr><td>109</td><td>Bannayan-Riley-Ruvalcaba syndrome</td></tr><tr><td>110</td><td>Bardet-Biedl syndrome</td></tr><tr><td>111</td><td>Barth syndrome</td></tr><tr><td>112</td><td>Bartter syndrome</td></tr><tr><td>113</td><td>Bazex-Dupré-Christol syndrome</td></tr><tr><td>114</td><td>Auriculoosteodysplasia</td></tr><tr><td>115</td><td>Congenital contractural arachnodactyly</td></tr><tr><td>116</td><td>Beckwith-Wiedemann syndrome</td></tr><tr><td>117</td><td>Behçet disease</td></tr><tr><td>118</td><td>Beta-mannosidosis</td></tr><tr><td>119</td><td>Beta-sarcoglycan-related limb-girdle muscular dystrophy R4</td></tr><tr><td>122</td><td>Birt-Hogg-Dubé syndrome</td></tr><tr><td>123</td><td>Björnstad syndrome</td></tr><tr><td>124</td><td>Diamond-Blackfan anemia</td></tr><tr><td>125</td><td>Bloom syndrome</td></tr><tr><td>126</td><td>Blepharophimosis-ptosis-epicanthus inversus syndrome</td></tr><tr><td>127</td><td>Borjeson-Forssman-Lehmann syndrome</td></tr><tr><td>128</td><td>Diphyllobothriasis</td></tr><tr><td>129</td><td>Pseudopelade of Brocq</td></tr><tr><td>130</td><td>Brugada syndrome</td></tr><tr><td>131</td><td>Budd-Chiari syndrome</td></tr><tr><td>132</td><td>Hereditary butyrylcholinesterase deficiency</td></tr><tr><td>133</td><td>Chronic beryllium disease</td></tr><tr><td>134</td><td>Beta-ketothiolase deficiency</td></tr><tr><td>135</td><td>CACH syndrome</td></tr><tr><td>136</td><td>Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy</td></tr><tr><td>138</td><td>CHARGE syndrome</td></tr><tr><td>139</td><td>CHILD syndrome</td></tr><tr><td>140</td><td>Campomelic dysplasia</td></tr><tr><td>141</td><td>Canavan disease</td></tr><tr><td>142</td><td>Anaplastic thyroid carcinoma</td></tr><tr><td>143</td><td>Parathyroid carcinoma</td></tr><tr><td>144</td><td>Lynch syndrome</td></tr><tr><td>145</td><td>Hereditary breast and/or ovarian cancer syndrome</td></tr><tr><td>146</td><td>Differentiated thyroid carcinoma</td></tr><tr><td>147</td><td>Carbamoyl-phosphate synthetase 1 deficiency</td></tr><tr><td>150</td><td>Nasopharyngeal carcinoma</td></tr><tr><td>154</td><td>Familial isolated dilated cardiomyopathy</td></tr><tr><td>156</td><td>Carnitine palmitoyl transferase 1A deficiency</td></tr><tr><td>157</td><td>Carnitine palmitoyltransferase II deficiency</td></tr><tr><td>158</td><td>Systemic primary carnitine deficiency</td></tr><tr><td>159</td><td>Carnitine-acylcarnitine translocase deficiency</td></tr><tr><td>160</td><td>Castleman disease</td></tr><tr><td>162</td><td>Congenital cataract-anterior segment dysgenesis syndrome</td></tr><tr><td>163</td><td>Hereditary hyperferritinemia-cataract syndrome</td></tr><tr><td>167</td><td>Chédiak-Higashi syndrome</td></tr><tr><td>168</td><td>Loose anagen syndrome</td></tr><tr><td>169</td><td>Ringed hair disease</td></tr><tr><td>170</td><td>Woolly hair</td></tr><tr><td>171</td><td>Primary sclerosing cholangitis</td></tr><tr><td>172</td><td>Progressive familial intrahepatic cholestasis</td></tr><tr><td>173</td><td>Cholera</td></tr><tr><td>174</td><td>Metaphyseal chondrodysplasia, Schmid type</td></tr><tr><td>175</td><td>Cartilage-hair hypoplasia</td></tr><tr><td>177</td><td>Rhizomelic chondrodysplasia punctata</td></tr><tr><td>178</td><td>Chordoma</td></tr><tr><td>179</td><td>Birdshot chorioretinopathy</td></tr><tr><td>180</td><td>Choroideremia</td></tr><tr><td>181</td><td>X-linked hypohidrotic ectodermal dysplasia</td></tr><tr><td>182</td><td>Chromomycosis</td></tr><tr><td>183</td><td>Eosinophilic granulomatosis with polyangiitis</td></tr><tr><td>184</td><td>Cherubism</td></tr><tr><td>185</td><td>Scimitar syndrome</td></tr><tr><td>186</td><td>Primary biliary cholangitis</td></tr><tr><td>188</td><td>Systemic capillary leak syndrome</td></tr><tr><td>189</td><td>Hidrotic ectodermal dysplasia</td></tr><tr><td>190</td><td>Coats disease</td></tr><tr><td>191</td><td>Cockayne syndrome</td></tr><tr><td>192</td><td>Coffin-Lowry syndrome</td></tr><tr><td>193</td><td>Cohen syndrome</td></tr><tr><td>195</td><td>Cat-eye syndrome</td></tr><tr><td>198</td><td>Occipital horn syndrome</td></tr><tr><td>199</td><td>Cornelia de Lange syndrome</td></tr><tr><td>200</td><td>Isolated corpus callosum agenesis</td></tr><tr><td>201</td><td>Cowden syndrome</td></tr><tr><td>202</td><td>Crandall syndrome</td></tr><tr><td>204</td><td>Sporadic Creutzfeldt-Jakob disease</td></tr><tr><td>205</td><td>Crigler-Najjar syndrome</td></tr><tr><td>207</td><td>Crouzon syndrome</td></tr><tr><td>210</td><td>Cyclosporiasis</td></tr><tr><td>211</td><td>Familial cylindromatosis</td></tr><tr><td>212</td><td>Cystathioninuria</td></tr><tr><td>213</td><td>Cystinosis</td></tr><tr><td>214</td><td>Cystinuria</td></tr><tr><td>215</td><td>Congenital stationary night blindness</td></tr><tr><td>217</td><td>Isolated Dandy-Walker malformation</td></tr><tr><td>218</td><td>Darier disease</td></tr><tr><td>219</td><td>Delta-sarcoglycan-related limb-girdle muscular dystrophy R6</td></tr><tr><td>220</td><td>Denys-Drash syndrome</td></tr><tr><td>221</td><td>Dermatomyositis</td></tr><tr><td>222</td><td>Erosive pustular dermatosis of the scalp</td></tr><tr><td>223</td><td>Arginine vasopressin resistance</td></tr><tr><td>226</td><td>Dihydropteridine reductase deficiency</td></tr><tr><td>227</td><td>Diphallia</td></tr><tr><td>229</td><td>Familial aortic dissection</td></tr><tr><td>230</td><td>Dopamine beta-hydroxylase deficiency</td></tr><tr><td>231</td><td>Dracunculiasis</td></tr><tr><td>232</td><td>Sickle cell anemia</td></tr><tr><td>233</td><td>Duane retraction syndrome</td></tr><tr><td>234</td><td>Dubin-Johnson syndrome</td></tr><tr><td>235</td><td>Dubowitz syndrome</td></tr><tr><td>236</td><td>Trisomy 9p</td></tr><tr><td>237</td><td>Duplication of urethra</td></tr><tr><td>239</td><td>Dyggve-Melchior-Clausen disease</td></tr><tr><td>240</td><td>Léri-Weill dyschondrosteosis</td></tr><tr><td>241</td><td>Dyschromatosis universalis hereditaria</td></tr><tr><td>242</td><td>46,XY complete gonadal dysgenesis</td></tr><tr><td>243</td><td>46,XX gonadal dysgenesis</td></tr><tr><td>244</td><td>Primary ciliary dyskinesia</td></tr><tr><td>245</td><td>Nager syndrome</td></tr><tr><td>246</td><td>Postaxial acrofacial dysostosis</td></tr><tr><td>248</td><td>Autosomal recessive hypohidrotic ectodermal dysplasia</td></tr><tr><td>249</td><td>Fibrous dysplasia of bone</td></tr><tr><td>256</td><td>Early-onset generalized limb-onset dystonia</td></tr><tr><td>257</td><td>Epidermolysis bullosa simplex with muscular dystrophy</td></tr><tr><td>258</td><td>Laminin subunit alpha 2-related congenital muscular dystrophy</td></tr><tr><td>261</td><td>Emery-Dreifuss muscular dystrophy</td></tr><tr><td>266</td><td>Autosomal dominant limb-girdle muscular dystrophy type 1A</td></tr><tr><td>267</td><td>Calpain-3-related limb-girdle muscular dystrophy R1</td></tr><tr><td>268</td><td>Dysferlin-related limb-girdle muscular dystrophy R2</td></tr><tr><td>269</td><td>Facioscapulohumeral dystrophy</td></tr><tr><td>270</td><td>Oculopharyngeal muscular dystrophy</td></tr><tr><td>272</td><td>Congenital muscular dystrophy, Fukuyama type</td></tr><tr><td>273</td><td>Steinert myotonic dystrophy</td></tr><tr><td>274</td><td>Bernard-Soulier syndrome</td></tr><tr><td>275</td><td>Severe combined immunodeficiency due to DCLRE1C deficiency</td></tr><tr><td>276</td><td>T-B+ severe combined immunodeficiency due to gamma chain deficiency</td></tr><tr><td>277</td><td>Severe combined immunodeficiency due to adenosine deaminase deficiency</td></tr><tr><td>280</td><td>Wolf-Hirschhorn syndrome</td></tr><tr><td>281</td><td>Monosomy 5p</td></tr><tr><td>283</td><td>Demodicidosis</td></tr><tr><td>284</td><td>Alveolar echinococcosis</td></tr><tr><td>285</td><td>Hypermobile Ehlers-Danlos syndrome</td></tr><tr><td>286</td><td>Vascular Ehlers-Danlos syndrome</td></tr><tr><td>287</td><td>Classical Ehlers-Danlos syndrome</td></tr><tr><td>288</td><td>Hereditary elliptocytosis</td></tr><tr><td>289</td><td>Ellis Van Creveld syndrome</td></tr><tr><td>290</td><td>Congenital rubella syndrome</td></tr><tr><td>291</td><td>Congenital varicella syndrome</td></tr><tr><td>292</td><td>Congenital enterovirus infection</td></tr><tr><td>293</td><td>Congenital herpes simplex virus infection</td></tr><tr><td>294</td><td>Fetal cytomegalovirus syndrome</td></tr><tr><td>295</td><td>Fetal parvovirus syndrome</td></tr><tr><td>296</td><td>Ollier disease</td></tr><tr><td>297</td><td>Tick-borne encephalitis</td></tr><tr><td>298</td><td>Mitochondrial neurogastrointestinal encephalomyopathy</td></tr><tr><td>300</td><td>Bifunctional enzyme deficiency</td></tr><tr><td>302</td><td>Inherited epidermodysplasia verruciformis</td></tr><tr><td>306</td><td>Benign familial infantile epilepsy</td></tr><tr><td>307</td><td>Juvenile myoclonic epilepsy</td></tr><tr><td>308</td><td>Progressive myoclonic epilepsy type 1</td></tr><tr><td>312</td><td>Autosomal dominant epidermolytic ichthyosis</td></tr><tr><td>313</td><td>Lamellar ichthyosis</td></tr><tr><td>314</td><td>Erythroderma desquamativum</td></tr><tr><td>315</td><td>Erythrokeratoderma ''en cocardes''</td></tr><tr><td>316</td><td>Progressive symmetric erythrokeratodermia</td></tr><tr><td>317</td><td>Erythrokeratodermia variabilis</td></tr><tr><td>318</td><td>Acute erythroid leukemia</td></tr><tr><td>319</td><td>Skeletal Ewing sarcoma</td></tr><tr><td>320</td><td>Apparent mineralocorticoid excess</td></tr><tr><td>321</td><td>Multiple osteochondromas</td></tr><tr><td>322</td><td>Exstrophy-epispadias complex</td></tr><tr><td>324</td><td>Fabry disease</td></tr><tr><td>325</td><td>Congenital factor II deficiency</td></tr><tr><td>326</td><td>Congenital factor V deficiency</td></tr><tr><td>327</td><td>Congenital factor VII deficiency</td></tr><tr><td>328</td><td>Congenital factor X deficiency</td></tr><tr><td>329</td><td>Congenital factor XI deficiency</td></tr><tr><td>330</td><td>Congenital factor XII deficiency</td></tr><tr><td>331</td><td>Congenital factor XIII deficiency</td></tr><tr><td>332</td><td>Congenital intrinsic factor deficiency</td></tr><tr><td>333</td><td>Farber disease</td></tr><tr><td>334</td><td>Familial atrial fibrillation</td></tr><tr><td>335</td><td>Congenital fibrinogen deficiency</td></tr><tr><td>337</td><td>Fibrodysplasia ossificans progressiva</td></tr><tr><td>340</td><td>Hemorrhagic fever-renal syndrome</td></tr><tr><td>342</td><td>Familial Mediterranean fever</td></tr><tr><td>343</td><td>Hyperimmunoglobulinemia D with periodic fever</td></tr><tr><td>345</td><td>Dissecting cellulitis of the scalp</td></tr><tr><td>346</td><td>Quinquaud folliculitis decalvans</td></tr><tr><td>347</td><td>Frasier syndrome</td></tr><tr><td>348</td><td>Fructose-1,6-bisphosphatase deficiency</td></tr><tr><td>349</td><td>Fucosidosis</td></tr><tr><td>351</td><td>Galactosialidosis</td></tr><tr><td>353</td><td>Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5</td></tr><tr><td>354</td><td>GM1 gangliosidosis</td></tr><tr><td>355</td><td>Gaucher disease</td></tr><tr><td>356</td><td>Gerstmann-Straussler-Scheinker syndrome</td></tr><tr><td>358</td><td>Gitelman syndrome</td></tr><tr><td>360</td><td>Glioblastoma</td></tr><tr><td>361</td><td>Familial glucocorticoid deficiency</td></tr><tr><td>364</td><td>Glycogen storage disease due to glucose-6-phosphatase deficiency</td></tr><tr><td>365</td><td>Glycogen storage disease due to acid maltase deficiency</td></tr><tr><td>366</td><td>Glycogen storage disease due to glycogen debranching enzyme deficiency</td></tr><tr><td>367</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency</td></tr><tr><td>368</td><td>Glycogen storage disease due to muscle glycogen phosphorylase deficiency</td></tr><tr><td>369</td><td>Glycogen storage disease due to liver glycogen phosphorylase deficiency</td></tr><tr><td>371</td><td>Glycogen storage disease due to muscle phosphofructokinase deficiency</td></tr><tr><td>373</td><td>Simpson-Golabi-Behmel syndrome</td></tr><tr><td>375</td><td>Anti-glomerular basement membrane disease</td></tr><tr><td>376</td><td>Gordon syndrome</td></tr><tr><td>377</td><td>Gorlin syndrome</td></tr><tr><td>379</td><td>Chronic granulomatous disease</td></tr><tr><td>380</td><td>Greig cephalopolysyndactyly syndrome</td></tr><tr><td>381</td><td>Griscelli syndrome</td></tr><tr><td>382</td><td>Guanidinoacetate methyltransferase deficiency</td></tr><tr><td>384</td><td>Huriez syndrome</td></tr><tr><td>386</td><td>Hepatic cystic hamartoma</td></tr><tr><td>388</td><td>Hirschsprung disease</td></tr><tr><td>389</td><td>Langerhans cell histiocytosis</td></tr><tr><td>390</td><td>Histoplasmosis</td></tr><tr><td>391</td><td>Classic Hodgkin lymphoma</td></tr><tr><td>392</td><td>Holt-Oram syndrome</td></tr><tr><td>393</td><td>46,XX testicular difference of sex development</td></tr><tr><td>394</td><td>Homocystinuria due to cystathionine beta-synthase deficiency</td></tr><tr><td>395</td><td>Homocystinuria due to methylene tetrahydrofolate reductase deficiency</td></tr><tr><td>396</td><td>Chronic hiccup</td></tr><tr><td>397</td><td>Giant cell arteritis</td></tr><tr><td>399</td><td>Huntington disease</td></tr><tr><td>400</td><td>Cystic echinococcosis</td></tr><tr><td>401</td><td>Hymenolepiasis</td></tr><tr><td>403</td><td>Familial hyperaldosteronism type I</td></tr><tr><td>404</td><td>Familial hyperaldosteronism type II</td></tr><tr><td>405</td><td>Familial hypocalciuric hypercalcemia</td></tr><tr><td>407</td><td>Glycine encephalopathy</td></tr><tr><td>408</td><td>Isolated glycerol kinase deficiency</td></tr><tr><td>409</td><td>Hyperkeratosis lenticularis perstans</td></tr><tr><td>412</td><td>Dysbetalipoproteinemia</td></tr><tr><td>414</td><td>Gyrate atrophy of choroid and retina</td></tr><tr><td>415</td><td>Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome</td></tr><tr><td>416</td><td>Primary hyperoxaluria</td></tr><tr><td>417</td><td>Neonatal severe primary hyperparathyroidism</td></tr><tr><td>419</td><td>Hyperprolinemia type 1</td></tr><tr><td>422</td><td>Idiopathic/heritable pulmonary arterial hypertension</td></tr><tr><td>423</td><td>Malignant hyperthermia of anesthesia</td></tr><tr><td>424</td><td>Familial hyperthyroidism due to mutations in TSH receptor</td></tr><tr><td>425</td><td>Apolipoprotein A-I deficiency</td></tr><tr><td>427</td><td>Familial hypoaldosteronism</td></tr><tr><td>428</td><td>Autosomal dominant hypocalcemia</td></tr><tr><td>429</td><td>Hypochondroplasia</td></tr><tr><td>432</td><td>Normosmic congenital hypogonadotropic hypogonadism</td></tr><tr><td>436</td><td>Hypophosphatasia</td></tr><tr><td>439</td><td>Isolated right ventricular hypoplasia</td></tr><tr><td>441</td><td>Pure autonomic failure</td></tr><tr><td>444</td><td>Marie Unna hereditary hypotrichosis</td></tr><tr><td>446</td><td>Neonatal hemochromatosis</td></tr><tr><td>447</td><td>Paroxysmal nocturnal hemoglobinuria</td></tr><tr><td>449</td><td>Hepatoblastoma</td></tr><tr><td>452</td><td>X-linked lissencephaly with abnormal genitalia</td></tr><tr><td>454</td><td>Acquired ichthyosis</td></tr><tr><td>455</td><td>Superficial epidermolytic ichthyosis</td></tr><tr><td>457</td><td>Harlequin ichthyosis</td></tr><tr><td>461</td><td>Recessive X-linked ichthyosis</td></tr><tr><td>464</td><td>Incontinentia pigmenti</td></tr><tr><td>465</td><td>Congenital plasminogen activator inhibitor type 1 deficiency</td></tr><tr><td>466</td><td>Fatal familial insomnia</td></tr><tr><td>469</td><td>Hereditary fructose intolerance</td></tr><tr><td>470</td><td>Lysinuric protein intolerance</td></tr><tr><td>472</td><td>Isosporiasis</td></tr><tr><td>474</td><td>Jeune syndrome</td></tr><tr><td>475</td><td>Joubert syndrome</td></tr><tr><td>477</td><td>KID syndrome</td></tr><tr><td>478</td><td>Kallmann syndrome</td></tr><tr><td>480</td><td>Kearns-Sayre syndrome</td></tr><tr><td>481</td><td>Kennedy disease</td></tr><tr><td>482</td><td>Kimura disease</td></tr><tr><td>483</td><td>Congenital high-molecular-weight kininogen deficiency</td></tr><tr><td>485</td><td>Kniest dysplasia</td></tr><tr><td>486</td><td>Autosomal dominant severe congenital neutropenia</td></tr><tr><td>487</td><td>Krabbe disease</td></tr><tr><td>488</td><td>Urachal cyst</td></tr><tr><td>490</td><td>Omphalomesenteric cyst</td></tr><tr><td>492</td><td>Proliferating trichilemmal cyst</td></tr><tr><td>493</td><td>Familial keratoacanthoma</td></tr><tr><td>494</td><td>Keratoderma hereditarium mutilans</td></tr><tr><td>495</td><td>Transgrediens et progrediens palmoplantar keratoderma</td></tr><tr><td>499</td><td>Kerion celsi</td></tr><tr><td>500</td><td>Noonan syndrome with multiple lentigines</td></tr><tr><td>501</td><td>Lafora disease</td></tr><tr><td>502</td><td>Trichorhinophalangeal syndrome type 2</td></tr><tr><td>503</td><td>Larsen syndrome</td></tr><tr><td>504</td><td>Creeping myiasis</td></tr><tr><td>505</td><td>Graham Little-Piccardi-Lassueur syndrome</td></tr><tr><td>506</td><td>Leigh syndrome</td></tr><tr><td>507</td><td>Leishmaniasis</td></tr><tr><td>508</td><td>Leprechaunism</td></tr><tr><td>509</td><td>Leptospirosis</td></tr><tr><td>510</td><td>Lesch-Nyhan syndrome</td></tr><tr><td>511</td><td>Maple syrup urine disease</td></tr><tr><td>512</td><td>Metachromatic leukodystrophy</td></tr><tr><td>514</td><td>Acute monoblastic/monocytic leukemia</td></tr><tr><td>517</td><td>Acute myelomonocytic leukemia</td></tr><tr><td>518</td><td>Acute megakaryoblastic leukemia</td></tr><tr><td>520</td><td>Acute promyelocytic leukemia</td></tr><tr><td>521</td><td>Chronic myeloid leukemia</td></tr><tr><td>523</td><td>Hereditary leiomyomatosis and renal cell cancer</td></tr><tr><td>524</td><td>Li-Fraumeni syndrome</td></tr><tr><td>525</td><td>Lichen planopilaris</td></tr><tr><td>526</td><td>Liddle syndrome</td></tr><tr><td>528</td><td>Congenital generalized lipodystrophy</td></tr><tr><td>529</td><td>Roch-Leri mesosomatous lipomatosis</td></tr><tr><td>530</td><td>Lipoid proteinosis</td></tr><tr><td>531</td><td>Miller-Dieker syndrome</td></tr><tr><td>533</td><td>Listeriosis</td></tr><tr><td>534</td><td>Oculocerebrorenal syndrome of Lowe</td></tr><tr><td>536</td><td>Systemic lupus erythematosus</td></tr><tr><td>537</td><td>Toxic epidermal necrolysis</td></tr><tr><td>538</td><td>Lymphangioleiomyomatosis</td></tr><tr><td>540</td><td>Familial hemophagocytic lymphohistiocytosis</td></tr><tr><td>543</td><td>Burkitt lymphoma</td></tr><tr><td>545</td><td>Follicular lymphoma</td></tr><tr><td>548</td><td>Leprosy</td></tr><tr><td>549</td><td>Legionnaires disease</td></tr><tr><td>550</td><td>MELAS</td></tr><tr><td>551</td><td>MERRF</td></tr><tr><td>552</td><td>MODY</td></tr><tr><td>556</td><td>Malakoplakia</td></tr><tr><td>558</td><td>Marfan syndrome</td></tr><tr><td>559</td><td>Marinesco-Sjögren syndrome</td></tr><tr><td>560</td><td>Marshall syndrome</td></tr><tr><td>561</td><td>Marshall-Smith syndrome</td></tr><tr><td>562</td><td>McCune-Albright syndrome</td></tr><tr><td>563</td><td>Peripartum cardiomyopathy</td></tr><tr><td>564</td><td>Meckel syndrome</td></tr><tr><td>565</td><td>Menkes disease</td></tr><tr><td>566</td><td>Congenital microcoria</td></tr><tr><td>567</td><td>22q11.2 deletion syndrome</td></tr><tr><td>568</td><td>Microphthalmia, Lenz type</td></tr><tr><td>569</td><td>Familial or sporadic hemiplegic migraine</td></tr><tr><td>570</td><td>Moebius syndrome</td></tr><tr><td>572</td><td>Immunodeficiency by defective expression of MHC class II</td></tr><tr><td>573</td><td>Monilethrix</td></tr><tr><td>574</td><td>21q deletion syndrome</td></tr><tr><td>575</td><td>Muckle-Wells syndrome</td></tr><tr><td>576</td><td>Mucolipidosis type II</td></tr><tr><td>577</td><td>Mucolipidosis type III</td></tr><tr><td>578</td><td>Mucolipidosis type IV</td></tr><tr><td>579</td><td>Mucopolysaccharidosis type 1</td></tr><tr><td>580</td><td>Mucopolysaccharidosis type 2</td></tr><tr><td>581</td><td>Mucopolysaccharidosis type 3</td></tr><tr><td>582</td><td>Mucopolysaccharidosis type 4</td></tr><tr><td>583</td><td>Mucopolysaccharidosis type 6</td></tr><tr><td>584</td><td>Mucopolysaccharidosis type 7</td></tr><tr><td>585</td><td>Multiple sulfatase deficiency</td></tr><tr><td>586</td><td>Cystic fibrosis</td></tr><tr><td>588</td><td>Muscle-eye-brain disease</td></tr><tr><td>589</td><td>Myasthenia gravis</td></tr><tr><td>590</td><td>Congenital myasthenic syndrome</td></tr><tr><td>591</td><td>Furuncular myiasis</td></tr><tr><td>592</td><td>Macrophagic myofasciitis</td></tr><tr><td>596</td><td>X-linked centronuclear myopathy</td></tr><tr><td>597</td><td>Central core disease</td></tr><tr><td>598</td><td>Multiminicore myopathy</td></tr><tr><td>600</td><td>Vocal cord and pharyngeal distal myopathy</td></tr><tr><td>602</td><td>GNE myopathy</td></tr><tr><td>603</td><td>Distal myopathy, Welander type</td></tr><tr><td>606</td><td>Proximal myotonic myopathy</td></tr><tr><td>609</td><td>Tibial muscular dystrophy</td></tr><tr><td>610</td><td>Bethlem muscular dystrophy</td></tr><tr><td>611</td><td>Inclusion body myositis</td></tr><tr><td>614</td><td>Thomsen and Becker disease</td></tr><tr><td>615</td><td>Familial atrial myxoma</td></tr><tr><td>616</td><td>Medulloblastoma</td></tr><tr><td>617</td><td>Congenital primary megaureter</td></tr><tr><td>618</td><td>Familial melanoma</td></tr><tr><td>621</td><td>Hereditary methemoglobinemia</td></tr><tr><td>622</td><td>Homocystinuria without methylmalonic aciduria</td></tr><tr><td>624</td><td>Familial multiple nevi flammei</td></tr><tr><td>626</td><td>Large congenital melanocytic nevus</td></tr><tr><td>627</td><td>Nance-Horan syndrome</td></tr><tr><td>628</td><td>Diastrophic dysplasia</td></tr><tr><td>629</td><td>Short stature due to growth hormone qualitative anomaly</td></tr><tr><td>631</td><td>Non-acquired isolated growth hormone deficiency</td></tr><tr><td>632</td><td>Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia</td></tr><tr><td>633</td><td>Laron syndrome</td></tr><tr><td>634</td><td>Netherton syndrome</td></tr><tr><td>635</td><td>Neuroblastoma</td></tr><tr><td>636</td><td>Neurofibromatosis type 1</td></tr><tr><td>637</td><td>Full NF2-related schwannomatosis</td></tr><tr><td>638</td><td>Neurofibromatosis-Noonan syndrome</td></tr><tr><td>639</td><td>Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG</td></tr><tr><td>640</td><td>Hereditary neuropathy with liability to pressure palsies</td></tr><tr><td>641</td><td>Multifocal motor neuropathy</td></tr><tr><td>642</td><td>Hereditary sensory and autonomic neuropathy type 4</td></tr><tr><td>643</td><td>Giant axonal neuropathy</td></tr><tr><td>644</td><td>NARP syndrome</td></tr><tr><td>646</td><td>Niemann-Pick disease type C</td></tr><tr><td>647</td><td>Nijmegen breakage syndrome</td></tr><tr><td>648</td><td>Noonan syndrome</td></tr><tr><td>649</td><td>Norrie disease</td></tr><tr><td>650</td><td>LCAT deficiency</td></tr><tr><td>652</td><td>Multiple endocrine neoplasia type 1</td></tr><tr><td>653</td><td>Multiple endocrine neoplasia type 2</td></tr><tr><td>654</td><td>Nephroblastoma</td></tr><tr><td>655</td><td>Nephronophthisis</td></tr><tr><td>656</td><td>Genetic steroid-resistant nephrotic syndrome</td></tr><tr><td>659</td><td>Mutilating palmoplantar keratoderma with periorificial keratotic plaques</td></tr><tr><td>660</td><td>Omphalocele</td></tr><tr><td>661</td><td>Congenital central hypoventilation syndrome</td></tr><tr><td>662</td><td>Yellow nail syndrome</td></tr><tr><td>663</td><td>Mitochondrial DNA-related progressive external ophthalmoplegia</td></tr><tr><td>664</td><td>Ornithine transcarbamylase deficiency</td></tr><tr><td>666</td><td>Osteogenesis imperfecta</td></tr><tr><td>667</td><td>Autosomal recessive malignant osteopetrosis</td></tr><tr><td>668</td><td>Osteosarcoma</td></tr><tr><td>672</td><td>Pallister-Hall syndrome</td></tr><tr><td>673</td><td>Malaria</td></tr><tr><td>674</td><td>Accessory pancreas</td></tr><tr><td>675</td><td>Annular pancreas</td></tr><tr><td>676</td><td>Hereditary chronic pancreatitis</td></tr><tr><td>677</td><td>Pancreatoblastoma</td></tr><tr><td>678</td><td>Papillon-Lefèvre syndrome</td></tr><tr><td>679</td><td>Malignant atrophic papulosis</td></tr><tr><td>681</td><td>Hypokalemic periodic paralysis</td></tr><tr><td>682</td><td>Hyperkalemic periodic paralysis</td></tr><tr><td>683</td><td>Progressive supranuclear palsy</td></tr><tr><td>684</td><td>Paramyotonia congenita of Von Eulenburg</td></tr><tr><td>699</td><td>Pearson syndrome</td></tr><tr><td>700</td><td>Alopecia totalis</td></tr><tr><td>701</td><td>Alopecia universalis</td></tr><tr><td>702</td><td>Pelizaeus-Merzbacher disease</td></tr><tr><td>703</td><td>Bullous pemphigoid</td></tr><tr><td>704</td><td>Pemphigus vulgaris</td></tr><tr><td>705</td><td>Pendred syndrome</td></tr><tr><td>707</td><td>Plague</td></tr><tr><td>708</td><td>Peters anomaly</td></tr><tr><td>709</td><td>Peters plus syndrome</td></tr><tr><td>710</td><td>Pfeiffer syndrome</td></tr><tr><td>712</td><td>Hemolytic anemia due to glucophosphate isomerase deficiency</td></tr><tr><td>713</td><td>Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</td></tr><tr><td>714</td><td>Hemolytic anemia due to diphosphoglycerate mutase deficiency</td></tr><tr><td>715</td><td>Glycogen storage disease due to muscle phosphorylase kinase deficiency</td></tr><tr><td>716</td><td>Phenylketonuria</td></tr><tr><td>718</td><td>Isolated Pierre Robin syndrome</td></tr><tr><td>720</td><td>Pili bifurcati</td></tr><tr><td>721</td><td>Gray platelet syndrome</td></tr><tr><td>722</td><td>Hypoplasminogenemia</td></tr><tr><td>723</td><td>Pneumocystosis</td></tr><tr><td>724</td><td>Idiopathic acute eosinophilic pneumonia</td></tr><tr><td>725</td><td>Continuous spikes and waves during sleep</td></tr><tr><td>726</td><td>Alpers-Huttenlocher syndrome</td></tr><tr><td>727</td><td>Microscopic polyangiitis</td></tr><tr><td>728</td><td>Relapsing polychondritis</td></tr><tr><td>729</td><td>Polycythemia vera</td></tr><tr><td>730</td><td>Autosomal dominant polycystic kidney disease</td></tr><tr><td>731</td><td>Autosomal recessive polycystic kidney disease</td></tr><tr><td>732</td><td>Polymyositis</td></tr><tr><td>733</td><td>Familial adenomatous polyposis</td></tr><tr><td>734</td><td>Alpha delta granule deficiency</td></tr><tr><td>735</td><td>Porokeratosis of Mibelli</td></tr><tr><td>737</td><td>Porokeratosis plantaris palmaris et disseminata</td></tr><tr><td>739</td><td>Prader-Willi syndrome</td></tr><tr><td>740</td><td>Hutchinson-Gilford progeria syndrome</td></tr><tr><td>741</td><td>Familial mitral valve prolapse</td></tr><tr><td>742</td><td>Prolidase deficiency</td></tr><tr><td>743</td><td>Severe hereditary thrombophilia due to congenital protein S deficiency</td></tr><tr><td>744</td><td>Proteus syndrome</td></tr><tr><td>745</td><td>Severe hereditary thrombophilia due to congenital protein C deficiency</td></tr><tr><td>746</td><td>Mitochondrial trifunctional protein deficiency</td></tr><tr><td>747</td><td>Autoimmune pulmonary alveolar proteinosis</td></tr><tr><td>749</td><td>Congenital prekallikrein deficiency</td></tr><tr><td>750</td><td>Pseudoachondroplasia</td></tr><tr><td>752</td><td>46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency</td></tr><tr><td>753</td><td>46,XY difference of sex development due to 5-alpha-reductase 2 deficiency</td></tr><tr><td>755</td><td>Leydig cell hypoplasia</td></tr><tr><td>756</td><td>Pseudohypoaldosteronism type 1</td></tr><tr><td>757</td><td>Pseudohypoaldosteronism type 2</td></tr><tr><td>758</td><td>Pseudoxanthoma elasticum</td></tr><tr><td>760</td><td>Purine nucleoside phosphorylase deficiency</td></tr><tr><td>761</td><td>Immunoglobulin A vasculitis</td></tr><tr><td>763</td><td>Pycnodysostosis</td></tr><tr><td>764</td><td>Pyomyositis</td></tr><tr><td>765</td><td>Pyruvate dehydrogenase deficiency</td></tr><tr><td>766</td><td>Hemolytic anemia due to red cell pyruvate kinase deficiency</td></tr><tr><td>767</td><td>Polyarteritis nodosa</td></tr><tr><td>769</td><td>Rabson-Mendenhall syndrome</td></tr><tr><td>770</td><td>Rabies</td></tr><tr><td>772</td><td>Infantile Refsum disease</td></tr><tr><td>773</td><td>Refsum disease</td></tr><tr><td>774</td><td>Hereditary hemorrhagic telangiectasia</td></tr><tr><td>776</td><td>Lujan-Fryns syndrome</td></tr><tr><td>777</td><td>X-linked non-syndromic intellectual disability</td></tr><tr><td>778</td><td>Rett syndrome</td></tr><tr><td>779</td><td>Reynolds syndrome</td></tr><tr><td>780</td><td>Rhabdomyosarcoma</td></tr><tr><td>781</td><td>Q fever</td></tr><tr><td>782</td><td>Axenfeld-Rieger syndrome</td></tr><tr><td>783</td><td>Rubinstein-Taybi syndrome</td></tr><tr><td>785</td><td>Estrogen resistance syndrome</td></tr><tr><td>786</td><td>Generalized glucocorticoid resistance syndrome</td></tr><tr><td>790</td><td>Retinoblastoma</td></tr><tr><td>791</td><td>Retinitis pigmentosa</td></tr><tr><td>792</td><td>X-linked retinoschisis</td></tr><tr><td>793</td><td>SAPHO syndrome</td></tr><tr><td>794</td><td>Saethre-Chotzen syndrome</td></tr><tr><td>796</td><td>Sandhoff disease</td></tr><tr><td>797</td><td>Sarcoidosis</td></tr><tr><td>798</td><td>Schinzel-Giedion syndrome</td></tr><tr><td>799</td><td>Schizencephaly</td></tr><tr><td>800</td><td>Schwartz-Jampel syndrome</td></tr><tr><td>803</td><td>Amyotrophic lateral sclerosis</td></tr><tr><td>805</td><td>Tuberous sclerosis complex</td></tr><tr><td>806</td><td>Scott syndrome</td></tr><tr><td>808</td><td>Seckel syndrome</td></tr><tr><td>809</td><td>Mixed connective tissue disease</td></tr><tr><td>810</td><td>Shigellosis</td></tr><tr><td>811</td><td>Shwachman-Diamond syndrome</td></tr><tr><td>812</td><td>Sialidosis type 1</td></tr><tr><td>813</td><td>Silver-Russell syndrome</td></tr><tr><td>816</td><td>Sjögren-Larsson syndrome</td></tr><tr><td>818</td><td>Smith-Lemli-Opitz syndrome</td></tr><tr><td>819</td><td>Smith-Magenis syndrome</td></tr><tr><td>820</td><td>Sneddon syndrome</td></tr><tr><td>821</td><td>Sotos syndrome</td></tr><tr><td>822</td><td>Hereditary spherocytosis</td></tr><tr><td>824</td><td>Primary myelofibrosis</td></tr><tr><td>826</td><td>Sporotrichosis</td></tr><tr><td>827</td><td>Stargardt disease</td></tr><tr><td>828</td><td>Stickler syndrome</td></tr><tr><td>829</td><td>Adult-onset Still disease</td></tr><tr><td>831</td><td>Congenital cervical spinal stenosis</td></tr><tr><td>832</td><td>Succinyl-CoA:3-oxoacid CoA transferase deficiency</td></tr><tr><td>833</td><td>Encephalopathy due to sulfite oxidase deficiency</td></tr><tr><td>834</td><td>Free sialic acid storage disease</td></tr><tr><td>838</td><td>Susac syndrome</td></tr><tr><td>839</td><td>Congenital nephrotic syndrome, Finnish type</td></tr><tr><td>840</td><td>Syringocystadenoma papilliferum</td></tr><tr><td>841</td><td>Sebocystomatosis</td></tr><tr><td>842</td><td>Testicular seminomatous germ cell tumor</td></tr><tr><td>844</td><td>Lown-Ganong-Levine syndrome</td></tr><tr><td>845</td><td>Tay-Sachs disease</td></tr><tr><td>846</td><td>Alpha-thalassemia</td></tr><tr><td>847</td><td>X-linked alpha-thalassemia-intellectual disability syndrome</td></tr><tr><td>848</td><td>Beta-thalassemia</td></tr><tr><td>849</td><td>Glanzmann thrombasthenia</td></tr><tr><td>851</td><td>Paris-Trousseau thrombocytopenia</td></tr><tr><td>852</td><td>X-linked thrombocytopenia with normal platelets</td></tr><tr><td>853</td><td>Fetal and neonatal alloimmune thrombocytopenia</td></tr><tr><td>854</td><td>Primitive portal vein thrombosis</td></tr><tr><td>857</td><td>Townes-Brocks syndrome</td></tr><tr><td>858</td><td>Congenital toxoplasmosis</td></tr><tr><td>859</td><td>Transcobalamin deficiency</td></tr><tr><td>860</td><td>Congenitally uncorrected transposition of the great arteries</td></tr><tr><td>861</td><td>Treacher-Collins syndrome</td></tr><tr><td>863</td><td>Trichinellosis</td></tr><tr><td>864</td><td>Trichofolliculoma</td></tr><tr><td>867</td><td>Familial multiple trichoepithelioma</td></tr><tr><td>868</td><td>Triose phosphate-isomerase deficiency</td></tr><tr><td>869</td><td>Triple A syndrome</td></tr><tr><td>870</td><td>Down syndrome</td></tr><tr><td>871</td><td>Familial progressive cardiac conduction defect</td></tr><tr><td>873</td><td>Desmoid tumor</td></tr><tr><td>874</td><td>Primary adult heart tumor</td></tr><tr><td>875</td><td>Primary pediatric heart tumor</td></tr><tr><td>876</td><td>Yolk sac tumor</td></tr><tr><td>879</td><td>Tungiasis</td></tr><tr><td>881</td><td>Turner syndrome</td></tr><tr><td>882</td><td>Tyrosinemia type 1</td></tr><tr><td>883</td><td>Extragonadal teratoma</td></tr><tr><td>884</td><td>Tetrasomy 12p</td></tr><tr><td>886</td><td>Usher syndrome</td></tr><tr><td>887</td><td>VACTERL/VATER association</td></tr><tr><td>888</td><td>Van der Woude syndrome</td></tr><tr><td>889</td><td>Cutaneous small vessel vasculitis</td></tr><tr><td>890</td><td>Hepatic veno-occlusive disease</td></tr><tr><td>891</td><td>Familial exudative vitreoretinopathy</td></tr><tr><td>892</td><td>Von Hippel-Lindau disease</td></tr><tr><td>893</td><td>WAGR syndrome</td></tr><tr><td>894</td><td>Waardenburg syndrome type 1</td></tr><tr><td>895</td><td>Waardenburg syndrome type 2</td></tr><tr><td>896</td><td>Waardenburg syndrome type 3</td></tr><tr><td>897</td><td>Waardenburg-Shah syndrome</td></tr><tr><td>898</td><td>Wagner disease</td></tr><tr><td>899</td><td>Walker-Warburg syndrome</td></tr><tr><td>900</td><td>Granulomatosis with polyangiitis</td></tr><tr><td>901</td><td>Wells syndrome</td></tr><tr><td>902</td><td>Werner syndrome</td></tr><tr><td>903</td><td>Von Willebrand disease</td></tr><tr><td>904</td><td>Williams syndrome</td></tr><tr><td>905</td><td>Wilson disease</td></tr><tr><td>906</td><td>Wiskott-Aldrich syndrome</td></tr><tr><td>908</td><td>Fragile X syndrome</td></tr><tr><td>909</td><td>Cerebrotendinous xanthomatosis</td></tr><tr><td>910</td><td>Xeroderma pigmentosum</td></tr><tr><td>911</td><td>Combined immunodeficiency due to ZAP70 deficiency</td></tr><tr><td>912</td><td>Zellweger syndrome</td></tr><tr><td>913</td><td>Zollinger-Ellison syndrome</td></tr><tr><td>915</td><td>Aarskog-Scott syndrome</td></tr><tr><td>916</td><td>Aase-Smith syndrome</td></tr><tr><td>920</td><td>Ablepharon macrostomia syndrome</td></tr><tr><td>921</td><td>Abruzzo-Erickson syndrome</td></tr><tr><td>922</td><td>Familial nasal acilia</td></tr><tr><td>926</td><td>Acatalasemia</td></tr><tr><td>927</td><td>Hyperammonemia due to N-acetylglutamate synthase deficiency</td></tr><tr><td>929</td><td>Achalasia-microcephaly syndrome</td></tr><tr><td>930</td><td>Idiopathic achalasia</td></tr><tr><td>931</td><td>Isolated acheiropodia</td></tr><tr><td>932</td><td>Achondrogenesis</td></tr><tr><td>935</td><td>Short-limb skeletal dysplasia with severe combined immunodeficiency</td></tr><tr><td>939</td><td>3-hydroxyisobutyric aciduria</td></tr><tr><td>941</td><td>D-glyceric aciduria</td></tr><tr><td>943</td><td>Malonic aciduria</td></tr><tr><td>945</td><td>Acalvaria</td></tr><tr><td>949</td><td>Acrocraniofacial dysostosis</td></tr><tr><td>950</td><td>Acrodysostosis</td></tr><tr><td>952</td><td>Acrofacial dysostosis, Weyers type</td></tr><tr><td>955</td><td>Hajdu-Cheney syndrome</td></tr><tr><td>957</td><td>Acropectorovertebral dysplasia</td></tr><tr><td>958</td><td>Acro-renal-mandibular syndrome</td></tr><tr><td>959</td><td>Acro-renal-ocular syndrome</td></tr><tr><td>963</td><td>Acromegaly</td></tr><tr><td>968</td><td>Acromesomelic dysplasia, Hunter-Thompson type</td></tr><tr><td>969</td><td>Acromicric dysplasia</td></tr><tr><td>970</td><td>Hereditary sensory and autonomic neuropathy type 2</td></tr><tr><td>971</td><td>Acrorenal syndrome</td></tr><tr><td>972</td><td>Hereditary continuous muscle fiber activity</td></tr><tr><td>973</td><td>Isolated absence/hypoplasia of fingers excluding thumb, unilateral</td></tr><tr><td>974</td><td>Adams-Oliver syndrome</td></tr><tr><td>976</td><td>Adenine phosphoribosyltransferase deficiency</td></tr><tr><td>977</td><td>Adrenomyodystrophy</td></tr><tr><td>978</td><td>ADULT syndrome</td></tr><tr><td>980</td><td>Absence of the pulmonary artery</td></tr><tr><td>981</td><td>Internal carotid absence</td></tr><tr><td>983</td><td>Testicular regression syndrome</td></tr><tr><td>984</td><td>Pulmonary agenesis</td></tr><tr><td>988</td><td>Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome</td></tr><tr><td>989</td><td>Hypoglossia-hypodactyly syndrome</td></tr><tr><td>990</td><td>Agnathia-holoprosencephaly-situs inversus syndrome</td></tr><tr><td>991</td><td>PAGOD syndrome</td></tr><tr><td>994</td><td>Fetal akinesia deformation sequence</td></tr><tr><td>998</td><td>Albinism-deafness syndrome</td></tr><tr><td>999</td><td>Ermine phenotype</td></tr><tr><td>1000</td><td>Ocular albinism with late-onset sensorineural deafness</td></tr><tr><td>1001</td><td>2q37 microdeletion syndrome</td></tr><tr><td>1003</td><td>Scalp defects-postaxial polydactyly syndrome</td></tr><tr><td>1005</td><td>Alopecia-contractures-dwarfism-intellectual disability syndrome</td></tr><tr><td>1006</td><td>Alopecia antibody deficiency</td></tr><tr><td>1008</td><td>Alopecia-epilepsy-pyorrhea-intellectual disability syndrome</td></tr><tr><td>1010</td><td>Autosomal dominant palmoplantar keratoderma and congenital alopecia</td></tr><tr><td>1014</td><td>Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome</td></tr><tr><td>1018</td><td>X-linked Alport syndrome-diffuse leiomyomatosis</td></tr><tr><td>1020</td><td>Early-onset autosomal dominant Alzheimer disease</td></tr><tr><td>1021</td><td>Amaurosis-hypertrichosis syndrome</td></tr><tr><td>1023</td><td>Congenital generalized hypertrichosis, Ambras type</td></tr><tr><td>1027</td><td>Autosomal recessive amelia</td></tr><tr><td>1028</td><td>Amelo-onycho-hypohidrotic syndrome</td></tr><tr><td>1031</td><td>Enamel-renal syndrome</td></tr><tr><td>1035</td><td>Beta-mercaptolactate cysteine disulfiduria</td></tr><tr><td>1040</td><td>Metaphyseal anadysplasia</td></tr><tr><td>1041</td><td>Hydrops fetalis</td></tr><tr><td>1046</td><td>Lethal hemolytic anemia-genital anomalies syndrome</td></tr><tr><td>1048</td><td>Isolated anencephaly/exencephaly</td></tr><tr><td>1051</td><td>Ramos-Arroyo syndrome</td></tr><tr><td>1052</td><td>Mosaic variegated aneuploidy syndrome</td></tr><tr><td>1053</td><td>Vein of Galen aneurysmal malformation</td></tr><tr><td>1054</td><td>Aneurysm of sinus of Valsalva</td></tr><tr><td>1055</td><td>Congenital left ventricular aneurysm</td></tr><tr><td>1059</td><td>Blue rubber bleb nevus</td></tr><tr><td>1062</td><td>Hereditary neurocutaneous malformation</td></tr><tr><td>1063</td><td>Tufted angioma</td></tr><tr><td>1064</td><td>Aniridia-renal agenesis-psychomotor retardation syndrome</td></tr><tr><td>1065</td><td>Aniridia-cerebellar ataxia-intellectual disability syndrome</td></tr><tr><td>1067</td><td>Aniridia-ptosis-intellectual disability-familial obesity syndrome</td></tr><tr><td>1068</td><td>Aniridia-intellectual disability syndrome</td></tr><tr><td>1069</td><td>Aniridia-absent patella syndrome</td></tr><tr><td>1070</td><td>Anisakiasis</td></tr><tr><td>1071</td><td>Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome</td></tr><tr><td>1072</td><td>Ankyloblepharon filiforme adnatum-cleft palate syndrome</td></tr><tr><td>1074</td><td>Ankyloblepharon filiforme adnatum-imperforate anus syndrome</td></tr><tr><td>1077</td><td>Dental ankylosis</td></tr><tr><td>1078</td><td>Thumb stiffness-brachydactyly-intellectual disability syndrome</td></tr><tr><td>1083</td><td>Microlissencephaly</td></tr><tr><td>1084</td><td>Isolated lissencephaly type 1 without known genetic defects</td></tr><tr><td>1094</td><td>Anonychia-microcephaly syndrome</td></tr><tr><td>1101</td><td>Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome</td></tr><tr><td>1104</td><td>Anophthalmia plus syndrome</td></tr><tr><td>1106</td><td>Microphthalmia with limb anomalies</td></tr><tr><td>1110</td><td>Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome</td></tr><tr><td>1112</td><td>Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome</td></tr><tr><td>1113</td><td>Aphalangy-syndactyly-microcephaly syndrome</td></tr><tr><td>1114</td><td>Aplasia cutis congenita</td></tr><tr><td>1116</td><td>Aplasia cutis congenita-intestinal lymphangiectasia syndrome</td></tr><tr><td>1117</td><td>Aplasia cutis-myopia syndrome</td></tr><tr><td>1118</td><td>Fibular aplasia-ectrodactyly syndrome</td></tr><tr><td>1120</td><td>Lung agenesis-heart defect-thumb anomalies syndrome</td></tr><tr><td>1121</td><td>Radial deficiency-tibial hypoplasia syndrome</td></tr><tr><td>1122</td><td>Ulnar hypoplasia-split foot syndrome</td></tr><tr><td>1123</td><td>Caudal appendage-deafness syndrome</td></tr><tr><td>1125</td><td>Ocular motor apraxia, Cogan type</td></tr><tr><td>1126</td><td>Aprosencephaly cerebellar dysgenesis</td></tr><tr><td>1129</td><td>Arachnodactyly-abnormal ossification-intellectual disability syndrome</td></tr><tr><td>1130</td><td>Arachnodactyly-intellectual disability-dysmorphism syndrome</td></tr><tr><td>1131</td><td>X-linked mandibulofacial dysostosis</td></tr><tr><td>1133</td><td>AREDYLD syndrome</td></tr><tr><td>1134</td><td>Isolated arrhinia</td></tr><tr><td>1135</td><td>Arrhinia-choanal atresia-microphthalmia syndrome</td></tr><tr><td>1143</td><td>Neurogenic arthrogryposis multiplex congenita</td></tr><tr><td>1144</td><td>Arthrogryposis-like hand anomaly-sensorineural deafness syndrome</td></tr><tr><td>1145</td><td>Infantile-onset X-linked spinal muscular atrophy</td></tr><tr><td>1146</td><td>Distal arthrogryposis type 1</td></tr><tr><td>1147</td><td>Sheldon-Hall syndrome</td></tr><tr><td>1149</td><td>Kuskokwim syndrome</td></tr><tr><td>1150</td><td>Arthrogryposis multiplex congenita-whistling face syndrome</td></tr><tr><td>1154</td><td>Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome</td></tr><tr><td>1159</td><td>Progressive pseudorheumatoid arthropathy of childhood</td></tr><tr><td>1160</td><td>Chylous ascites</td></tr><tr><td>1163</td><td>Aspergillosis</td></tr><tr><td>1164</td><td>Allergic bronchopulmonary aspergillosis</td></tr><tr><td>1166</td><td>Congenital unilateral hypoplasia of depressor anguli oris</td></tr><tr><td>1168</td><td>Ataxia-oculomotor apraxia type 1</td></tr><tr><td>1170</td><td>Autosomal recessive cerebelloparenchymal disorder type 3</td></tr><tr><td>1171</td><td>Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome</td></tr><tr><td>1173</td><td>Cerebellar ataxia-hypogonadism syndrome</td></tr><tr><td>1174</td><td>Cerebellar ataxia-ectodermal dysplasia syndrome</td></tr><tr><td>1175</td><td>X-linked progressive cerebellar ataxia</td></tr><tr><td>1177</td><td>Early-onset cerebellar ataxia with retained tendon reflexes</td></tr><tr><td>1178</td><td>Ataxia-tapetoretinal degeneration syndrome</td></tr><tr><td>1179</td><td>Benign paroxysmal tonic upgaze of childhood with ataxia</td></tr><tr><td>1180</td><td>Ataxia-hypogonadism-choroidal dystrophy syndrome</td></tr><tr><td>1182</td><td>Spastic ataxia with congenital miosis</td></tr><tr><td>1183</td><td>Opsoclonus-myoclonus syndrome</td></tr><tr><td>1184</td><td>Ataxia-photosensitivity-short stature syndrome</td></tr><tr><td>1185</td><td>Spinocerebellar ataxia-dysmorphism syndrome</td></tr><tr><td>1186</td><td>Infantile-onset spinocerebellar ataxia</td></tr><tr><td>1187</td><td>Lethal ataxia with deafness and optic atrophy</td></tr><tr><td>1188</td><td>Ataxia-deafness-intellectual disability syndrome</td></tr><tr><td>1190</td><td>Atelosteogenesis type I</td></tr><tr><td>1192</td><td>Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome</td></tr><tr><td>1193</td><td>Atkin-Flaitz syndrome</td></tr><tr><td>1194</td><td>TMEM70-related mitochondrial encephalo-cardio-myopathy</td></tr><tr><td>1195</td><td>Congenital atransferrinemia</td></tr><tr><td>1198</td><td>Colonic atresia</td></tr><tr><td>1199</td><td>Esophageal atresia</td></tr><tr><td>1200</td><td>Burn-McKeown syndrome</td></tr><tr><td>1201</td><td>Small bowel atresia</td></tr><tr><td>1202</td><td>Larynx atresia</td></tr><tr><td>1203</td><td>Duodenal atresia</td></tr><tr><td>1205</td><td>Mitral atresia</td></tr><tr><td>1207</td><td>Pulmonary atresia with ventricular septal defect</td></tr><tr><td>1208</td><td>Pulmonary atresia-intact ventricular septum syndrome</td></tr><tr><td>1209</td><td>Tricuspid atresia</td></tr><tr><td>1214</td><td>Progressive hemifacial atrophy</td></tr><tr><td>1215</td><td>Autosomal dominant optic atrophy plus syndrome</td></tr><tr><td>1216</td><td>Autosomal dominant congenital benign spinal muscular atrophy</td></tr><tr><td>1217</td><td>Spinal atrophy-ophthalmoplegia-pyramidal syndrome</td></tr><tr><td>1221</td><td>Cheilitis glandularis</td></tr><tr><td>1223</td><td>Balantidiasis</td></tr><tr><td>1225</td><td>Baller-Gerold syndrome</td></tr><tr><td>1226</td><td>Bamforth-Lazarus syndrome</td></tr><tr><td>1227</td><td>Bangstad syndrome</td></tr><tr><td>1228</td><td>Banki syndrome</td></tr><tr><td>1229</td><td>Congenital intrauterine infection-like syndrome</td></tr><tr><td>1231</td><td>Barber-Say syndrome</td></tr><tr><td>1234</td><td>Bartsocas-Papas syndrome</td></tr><tr><td>1236</td><td>Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome</td></tr><tr><td>1237</td><td>Beemer-Ertbruggen syndrome</td></tr><tr><td>1239</td><td>Behr syndrome</td></tr><tr><td>1241</td><td>Bencze syndrome</td></tr><tr><td>1243</td><td>Best vitelliform macular dystrophy</td></tr><tr><td>1246</td><td>Brachydactyly-nystagmus-cerebellar ataxia syndrome</td></tr><tr><td>1247</td><td>Schistosomiasis</td></tr><tr><td>1248</td><td>Maxillonasal dysplasia</td></tr><tr><td>1252</td><td>Blepharonasofacial malformation syndrome</td></tr><tr><td>1253</td><td>Ascher syndrome</td></tr><tr><td>1259</td><td>Blepharoptosis-myopia-ectopia lentis syndrome</td></tr><tr><td>1261</td><td>Bonnemann-Meinecke-Reich syndrome</td></tr><tr><td>1262</td><td>Böök syndrome</td></tr><tr><td>1263</td><td>Boomerang dysplasia</td></tr><tr><td>1264</td><td>Tricho-retino-dento-digital syndrome</td></tr><tr><td>1267</td><td>Botulism</td></tr><tr><td>1270</td><td>Bowen-Conradi syndrome</td></tr><tr><td>1272</td><td>Aymé-Gripp syndrome</td></tr><tr><td>1275</td><td>Brachydactyly-elbow wrist dysplasia syndrome</td></tr><tr><td>1276</td><td>Brachydactyly-arterial hypertension syndrome</td></tr><tr><td>1277</td><td>Brachydactyly-mesomelia-intellectual disability-heart defects syndrome</td></tr><tr><td>1278</td><td>Brachydactyly-preaxial hallux varus syndrome</td></tr><tr><td>1292</td><td>Brachymorphism-onychodysplasia-dysphalangism syndrome</td></tr><tr><td>1295</td><td>Brachytelephalangy-dysmorphism-Kallmann syndrome</td></tr><tr><td>1296</td><td>Lambert syndrome</td></tr><tr><td>1297</td><td>Branchio-oculo-facial syndrome</td></tr><tr><td>1299</td><td>Branchioskeletogenital syndrome</td></tr><tr><td>1300</td><td>Autosomal dominant popliteal pterygium syndrome</td></tr><tr><td>1302</td><td>Cryptogenic organizing pneumonia</td></tr><tr><td>1304</td><td>Brucellosis</td></tr><tr><td>1305</td><td>Feingold syndrome</td></tr><tr><td>1307</td><td>Distal limb deficiencies-micrognathia syndrome</td></tr><tr><td>1308</td><td>C syndrome</td></tr><tr><td>1309</td><td>Medullary sponge kidney</td></tr><tr><td>1310</td><td>Caffey disease</td></tr><tr><td>1313</td><td>Infantile choroidocerebral calcification syndrome</td></tr><tr><td>1314</td><td>Symmetrical thalamic calcifications</td></tr><tr><td>1318</td><td>Campomelia, Cumming type</td></tr><tr><td>1319</td><td>Camptobrachydactyly</td></tr><tr><td>1320</td><td>Idiopathic camptocormia</td></tr><tr><td>1321</td><td>Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome</td></tr><tr><td>1323</td><td>Camptodactyly-joint contractures-facial skeletal defects syndrome</td></tr><tr><td>1325</td><td>Camptodactyly-taurinuria syndrome</td></tr><tr><td>1326</td><td>Camptodactyly syndrome, Guadalajara type 2</td></tr><tr><td>1327</td><td>Camptodactyly syndrome, Guadalajara type 1</td></tr><tr><td>1328</td><td>Camurati-Engelmann disease</td></tr><tr><td>1329</td><td>Complete atrioventricular septal defect</td></tr><tr><td>1330</td><td>Partial atrioventricular septal defect</td></tr><tr><td>1331</td><td>Familial prostate cancer</td></tr><tr><td>1332</td><td>Medullary thyroid carcinoma</td></tr><tr><td>1333</td><td>Familial pancreatic carcinoma</td></tr><tr><td>1334</td><td>Chronic mucocutaneous candidiasis</td></tr><tr><td>1335</td><td>Pentalogy of Cantrell</td></tr><tr><td>1336</td><td>Hyperkeratosis-hyperpigmentation syndrome</td></tr><tr><td>1338</td><td>Heart defect-tongue hamartoma-polysyndactyly syndrome</td></tr><tr><td>1340</td><td>Cardiofaciocutaneous syndrome</td></tr><tr><td>1342</td><td>Heart-hand syndrome type 3</td></tr><tr><td>1344</td><td>Atrial standstill</td></tr><tr><td>1345</td><td>Cardiomyopathy-cataract-hip spine disease syndrome</td></tr><tr><td>1349</td><td>Mitochondrial DNA-related cardiomyopathy and hearing loss</td></tr><tr><td>1350</td><td>Heart-hand syndrome type 2</td></tr><tr><td>1352</td><td>Atrioventricular defect-blepharophimosis-radial and anal defect syndrome</td></tr><tr><td>1354</td><td>Heart defects-limb shortening syndrome</td></tr><tr><td>1355</td><td>Congenital heart defect-round face-developmental delay syndrome</td></tr><tr><td>1358</td><td>Carey-Fineman-Ziter syndrome</td></tr><tr><td>1359</td><td>Carney complex</td></tr><tr><td>1361</td><td>Carnosinase deficiency</td></tr><tr><td>1366</td><td>Autosomal recessive palmoplantar keratoderma and congenital alopecia</td></tr><tr><td>1368</td><td>Cataract-ataxia-deafness syndrome</td></tr><tr><td>1369</td><td>Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome</td></tr><tr><td>1373</td><td>Cataract-aberrant oral frenula-growth delay syndrome</td></tr><tr><td>1375</td><td>Cataract-hypertrichosis-intellectual disability syndrome</td></tr><tr><td>1377</td><td>Cataract-microcornea syndrome</td></tr><tr><td>1380</td><td>Cataract-nephropathy-encephalopathy syndrome</td></tr><tr><td>1381</td><td>Cataract-intellectual disability-anal atresia-urinary defects syndrome</td></tr><tr><td>1383</td><td>Cataract-deafness-hypogonadism syndrome</td></tr><tr><td>1387</td><td>Cataract-intellectual disability-hypogonadism syndrome</td></tr><tr><td>1388</td><td>Catel-Manzke syndrome</td></tr><tr><td>1389</td><td>Cortical blindness-intellectual disability-polydactyly syndrome</td></tr><tr><td>1390</td><td>Night blindness-skeletal anomalies-dysmorphism syndrome</td></tr><tr><td>1393</td><td>Cerebrocostomandibular syndrome</td></tr><tr><td>1394</td><td>Cerebrofaciothoracic dysplasia</td></tr><tr><td>1397</td><td>Hydrocephaly-cerebellar agenesis syndrome</td></tr><tr><td>1398</td><td>Isolated cerebellar agenesis</td></tr><tr><td>1399</td><td>Richards-Rundle syndrome</td></tr><tr><td>1401</td><td>CHAND syndrome</td></tr><tr><td>1406</td><td>Charlie M syndrome</td></tr><tr><td>1410</td><td>Uncombable hair syndrome</td></tr><tr><td>1412</td><td>Tarsal-carpal coalition syndrome</td></tr><tr><td>1414</td><td>Cholestasis-lymphedema syndrome</td></tr><tr><td>1415</td><td>Hardikar syndrome</td></tr><tr><td>1416</td><td>Familial calcium pyrophosphate deposition</td></tr><tr><td>1422</td><td>Chondrodysplasia-difference of sex development syndrome</td></tr><tr><td>1423</td><td>Lethal recessive chondrodysplasia</td></tr><tr><td>1425</td><td>Desbuquois syndrome</td></tr><tr><td>1426</td><td>Greenberg dysplasia</td></tr><tr><td>1427</td><td>Otospondylomegaepiphyseal dysplasia</td></tr><tr><td>1429</td><td>Benign hereditary chorea</td></tr><tr><td>1433</td><td>Choroidal atrophy-alopecia syndrome</td></tr><tr><td>1435</td><td>Xq21 microdeletion syndrome</td></tr><tr><td>1436</td><td>X-linked skeletal dysplasia-intellectual disability syndrome</td></tr><tr><td>1437</td><td>Ring chromosome 1 syndrome</td></tr><tr><td>1438</td><td>Ring chromosome 10 syndrome</td></tr><tr><td>1439</td><td>Ring chromosome 12 syndrome</td></tr><tr><td>1440</td><td>Ring chromosome 14 syndrome</td></tr><tr><td>1441</td><td>Ring chromosome 17 syndrome</td></tr><tr><td>1442</td><td>Ring chromosome 18 syndrome</td></tr><tr><td>1443</td><td>Ring chromosome 19 syndrome</td></tr><tr><td>1444</td><td>Ring chromosome 20 syndrome</td></tr><tr><td>1445</td><td>Ring chromosome 21 syndrome</td></tr><tr><td>1446</td><td>Ring chromosome 22 syndrome</td></tr><tr><td>1447</td><td>Ring chromosome 4 syndrome</td></tr><tr><td>1448</td><td>Ring chromosome 6 syndrome</td></tr><tr><td>1449</td><td>Ring chromosome 7 syndrome</td></tr><tr><td>1450</td><td>Ring chromosome 8 syndrome</td></tr><tr><td>1451</td><td>CINCA syndrome</td></tr><tr><td>1452</td><td>Cleidocranial dysplasia</td></tr><tr><td>1453</td><td>Cleidorhizomelic syndrome</td></tr><tr><td>1454</td><td>Joubert syndrome with hepatic defect</td></tr><tr><td>1456</td><td>Middle aortic syndrome</td></tr><tr><td>1457</td><td>Aorta coarctation</td></tr><tr><td>1458</td><td>CODAS syndrome</td></tr><tr><td>1459</td><td>Celiac disease-epilepsy-cerebral calcification syndrome</td></tr><tr><td>1460</td><td>Isolated complex III deficiency</td></tr><tr><td>1461</td><td>Criss-cross heart</td></tr><tr><td>1464</td><td>Univentricular heart</td></tr><tr><td>1465</td><td>Coffin-Siris syndrome</td></tr><tr><td>1466</td><td>COFS syndrome</td></tr><tr><td>1467</td><td>Cogan syndrome</td></tr><tr><td>1471</td><td>Coloboma of macula-brachydactyly type B syndrome</td></tr><tr><td>1473</td><td>Uveal coloboma-cleft lip and palate-intellectual disability</td></tr><tr><td>1475</td><td>Renal coloboma syndrome</td></tr><tr><td>1478</td><td>Interatrial communication</td></tr><tr><td>1479</td><td>Atrial septal defect-atrioventricular conduction defects syndrome</td></tr><tr><td>1482</td><td>Gonococcal conjunctivitis</td></tr><tr><td>1484</td><td>Contractures-ectodermal dysplasia-cleft lip/palate syndrome</td></tr><tr><td>1485</td><td>Arthrogryposis-hyperkeratosis syndrome, lethal form</td></tr><tr><td>1486</td><td>Lethal congenital contracture syndrome type 1</td></tr><tr><td>1487</td><td>Cooks syndrome</td></tr><tr><td>1488</td><td>Cooper-Jabs syndrome</td></tr><tr><td>1489</td><td>Whooping cough</td></tr><tr><td>1490</td><td>Corneal dystrophy-perceptive deafness syndrome</td></tr><tr><td>1493</td><td>Vici syndrome</td></tr><tr><td>1495</td><td>Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome</td></tr><tr><td>1496</td><td>Corpus callosum agenesis-neuronopathy syndrome</td></tr><tr><td>1497</td><td>X-linked complicated corpus callosum dysgenesis</td></tr><tr><td>1501</td><td>Adrenocortical carcinoma</td></tr><tr><td>1506</td><td>Thin ribs-tubular bones-dysmorphism syndrome</td></tr><tr><td>1507</td><td>Autosomal recessive Robinow syndrome</td></tr><tr><td>1508</td><td>Coxoauricular syndrome</td></tr><tr><td>1509</td><td>Coxopodopatellar syndrome</td></tr><tr><td>1512</td><td>Crane-Heise syndrome</td></tr><tr><td>1513</td><td>Craniodiaphyseal dysplasia</td></tr><tr><td>1514</td><td>Craniodigital-intellectual disability syndrome</td></tr><tr><td>1515</td><td>Cranioectodermal dysplasia</td></tr><tr><td>1516</td><td>Non-syndromic bilambdoid and sagittal craniosynostosis</td></tr><tr><td>1517</td><td>Cantú syndrome</td></tr><tr><td>1519</td><td>SPECC1L-related hypertelorism syndrome</td></tr><tr><td>1520</td><td>Craniofrontonasal dysplasia</td></tr><tr><td>1521</td><td>Craniofrontonasal dysplasia-Poland anomaly syndrome</td></tr><tr><td>1522</td><td>Craniometaphyseal dysplasia</td></tr><tr><td>1524</td><td>Craniomicromelic syndrome</td></tr><tr><td>1525</td><td>Cranio-osteoarthropathy</td></tr><tr><td>1527</td><td>Craniosynostosis, Philadelphia type</td></tr><tr><td>1528</td><td>Craniotelencephalic dysplasia</td></tr><tr><td>1529</td><td>Craniofacial-deafness-hand syndrome</td></tr><tr><td>1532</td><td>Gómez-López-Hernández syndrome</td></tr><tr><td>1538</td><td>Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome</td></tr><tr><td>1540</td><td>Jackson-Weiss syndrome</td></tr><tr><td>1541</td><td>Craniosynostosis, Boston type</td></tr><tr><td>1544</td><td>Benign focal seizures of adolescence</td></tr><tr><td>1545</td><td>Crisponi syndrome</td></tr><tr><td>1546</td><td>Cryptococcosis</td></tr><tr><td>1547</td><td>Cryptomicrotia-brachydactyly-excess fingertip arch syndrome</td></tr><tr><td>1548</td><td>Cryptorchidism-arachnodactyly-intellectual disability syndrome</td></tr><tr><td>1551</td><td>Familial benign copper deficiency</td></tr><tr><td>1552</td><td>Currarino syndrome</td></tr><tr><td>1553</td><td>Curry-Jones syndrome</td></tr><tr><td>1555</td><td>Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome</td></tr><tr><td>1556</td><td>Cutis marmorata telangiectatica congenita</td></tr><tr><td>1560</td><td>Cysticercosis</td></tr><tr><td>1561</td><td>Fatal infantile cytochrome C oxidase deficiency</td></tr><tr><td>1563</td><td>Dahlberg-Borer-Newcomer syndrome</td></tr><tr><td>1566</td><td>Dandy-Walker malformation-postaxial polydactyly syndrome</td></tr><tr><td>1568</td><td>X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome</td></tr><tr><td>1570</td><td>Symbrachydactyly of hands and feet</td></tr><tr><td>1571</td><td>Knobloch syndrome</td></tr><tr><td>1572</td><td>Common variable immunodeficiency</td></tr><tr><td>1573</td><td>Hypotrichosis with juvenile macular degeneration</td></tr><tr><td>1574</td><td>Retinal degeneration-nanophthalmos-glaucoma syndrome</td></tr><tr><td>1578</td><td>Pterin-4 alpha-carbinolamine dehydratase deficiency</td></tr><tr><td>1580</td><td>Distal deletion 10p</td></tr><tr><td>1581</td><td>Non-distal deletion 10q</td></tr><tr><td>1587</td><td>Monosomy 13q14</td></tr><tr><td>1590</td><td>Distal deletion 13q</td></tr><tr><td>1596</td><td>Distal deletion 15q</td></tr><tr><td>1597</td><td>Distal deletion 17q</td></tr><tr><td>1598</td><td>Monosomy 18p</td></tr><tr><td>1600</td><td>Monosomy 18q</td></tr><tr><td>1606</td><td>1p36 deletion syndrome</td></tr><tr><td>1617</td><td>Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion</td></tr><tr><td>1620</td><td>Distal deletion 3p</td></tr><tr><td>1621</td><td>3q13 microdeletion syndrome</td></tr><tr><td>1627</td><td>Deletion 5q35</td></tr><tr><td>1636</td><td>Distal monosomy 7q36</td></tr><tr><td>1642</td><td>Distal deletion 9p</td></tr><tr><td>1643</td><td>Xp22.3 microdeletion syndrome</td></tr><tr><td>1646</td><td>Chromosome Y microdeletion</td></tr><tr><td>1647</td><td>Oculocerebrocutaneous syndrome</td></tr><tr><td>1652</td><td>Dent disease</td></tr><tr><td>1653</td><td>Dentin dysplasia</td></tr><tr><td>1655</td><td>Müllerian derivatives-lymphangiectasia-polydactyly syndrome</td></tr><tr><td>1656</td><td>Dermatitis herpetiformis</td></tr><tr><td>1657</td><td>Dermatoosteolysis, Kirghizian type</td></tr><tr><td>1658</td><td>Absence of fingerprints-congenital milia syndrome</td></tr><tr><td>1659</td><td>Dermatoleukodystrophy</td></tr><tr><td>1660</td><td>Dermoodontodysplasia</td></tr><tr><td>1661</td><td>X-linked corneal dermoid</td></tr><tr><td>1662</td><td>Restrictive dermopathy</td></tr><tr><td>1665</td><td>Sporadic fetal brain disruption sequence</td></tr><tr><td>1666</td><td>Dextrocardia</td></tr><tr><td>1667</td><td>Wolcott-Rallison syndrome</td></tr><tr><td>1670</td><td>Chronic diarrhea with villous atrophy</td></tr><tr><td>1671</td><td>Split cord malformation type I</td></tr><tr><td>1672</td><td>Diencephalic syndrome</td></tr><tr><td>1675</td><td>Dihydropyrimidine dehydrogenase deficiency</td></tr><tr><td>1676</td><td>Idiopathic pulmonary artery dilatation</td></tr><tr><td>1677</td><td>Familial idiopathic dilatation of the right atrium</td></tr><tr><td>1679</td><td>Diphtheria</td></tr><tr><td>1681</td><td>Diprosopus</td></tr><tr><td>1682</td><td>Arterial dissection-lentiginosis syndrome</td></tr><tr><td>1686</td><td>Cardiac diverticulum</td></tr><tr><td>1692</td><td>Mosaic trisomy 1</td></tr><tr><td>1695</td><td>Non-distal duplication 10q</td></tr><tr><td>1698</td><td>Mosaic trisomy 12</td></tr><tr><td>1699</td><td>Trisomy 12p</td></tr><tr><td>1702</td><td>Non-distal duplication 13q</td></tr><tr><td>1703</td><td>Mosaic trisomy 14</td></tr><tr><td>1705</td><td>Distal duplication 14q</td></tr><tr><td>1706</td><td>Mosaic trisomy 15</td></tr><tr><td>1707</td><td>Distal duplication 15q</td></tr><tr><td>1708</td><td>Mosaic trisomy 16</td></tr><tr><td>1711</td><td>Mosaic trisomy 17</td></tr><tr><td>1713</td><td>17p11.2 microduplication syndrome</td></tr><tr><td>1715</td><td>Trisomy 18p</td></tr><tr><td>1716</td><td>Distal duplication 18q</td></tr><tr><td>1717</td><td>Distal duplication 19q</td></tr><tr><td>1723</td><td>Mosaic trisomy 2</td></tr><tr><td>1724</td><td>Mosaic trisomy 20</td></tr><tr><td>1727</td><td>22q11.2 duplication syndrome</td></tr><tr><td>1738</td><td>Trisomy 4p</td></tr><tr><td>1742</td><td>Trisomy 5p</td></tr><tr><td>1745</td><td>Distal duplication 6p</td></tr><tr><td>1747</td><td>Mosaic trisomy 7</td></tr><tr><td>1752</td><td>Trisomy 8q</td></tr><tr><td>1756</td><td>Caudal duplication</td></tr><tr><td>1757</td><td>Fibular dimelia-diplopodia syndrome</td></tr><tr><td>1759</td><td>Thoraco-abdominal enteric duplication</td></tr><tr><td>1762</td><td>Proximal Xq28 duplication syndrome</td></tr><tr><td>1764</td><td>Familial dysautonomia</td></tr><tr><td>1766</td><td>Dysequilibrium syndrome</td></tr><tr><td>1768</td><td>Familial caudal dysgenesis</td></tr><tr><td>1770</td><td>XY type gonadal dysgenesis-associated anomalies syndrome</td></tr><tr><td>1772</td><td>45,X/46,XY mixed gonadal dysgenesis</td></tr><tr><td>1775</td><td>Dyskeratosis congenita</td></tr><tr><td>1777</td><td>Temtamy syndrome</td></tr><tr><td>1778</td><td>Facial dysmorphism-shawl scrotum-joint laxity syndrome</td></tr><tr><td>1779</td><td>Dysmorphism-cleft palate-loose skin syndrome</td></tr><tr><td>1780</td><td>Thakker-Donnai syndrome</td></tr><tr><td>1782</td><td>Dysosteosclerosis</td></tr><tr><td>1784</td><td>Acrofrontofacionasal dysostosis</td></tr><tr><td>1786</td><td>Acrofacial dysostosis, Catania type</td></tr><tr><td>1787</td><td>Acrofacial dysostosis, Palagonia type</td></tr><tr><td>1788</td><td>Acrofacial dysostosis, Rodríguez type</td></tr><tr><td>1790</td><td>Hypomandibular faciocranial dysostosis</td></tr><tr><td>1791</td><td>Frontofacionasal dysplasia</td></tr><tr><td>1794</td><td>Oculomaxillofacial dysostosis</td></tr><tr><td>1797</td><td>Autosomal dominant spondylocostal dysostosis</td></tr><tr><td>1798</td><td>Craniofacial dysostosis-diaphyseal hyperplasia syndrome</td></tr><tr><td>1799</td><td>Familial developmental dysphasia</td></tr><tr><td>1801</td><td>Kyphomelic dysplasia</td></tr><tr><td>1802</td><td>Ghosal hematodiaphyseal dysplasia</td></tr><tr><td>1803</td><td>Thoracomelic dysplasia</td></tr><tr><td>1806</td><td>Ectodermal dysplasia-blindness syndrome</td></tr><tr><td>1807</td><td>Focal facial dermal dysplasia type III</td></tr><tr><td>1808</td><td>Hidrotic ectodermal dysplasia, Christianson-Fourie type</td></tr><tr><td>1809</td><td>Hidrotic ectodermal dysplasia, Halal type</td></tr><tr><td>1810</td><td>Autosomal dominant hypohidrotic ectodermal dysplasia</td></tr><tr><td>1811</td><td>Odontomicronychial dysplasia</td></tr><tr><td>1812</td><td>Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome</td></tr><tr><td>1816</td><td>Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome</td></tr><tr><td>1818</td><td>Ectodermal dysplasia, trichoodontoonychial type</td></tr><tr><td>1822</td><td>Dysplasia epiphysealis hemimelica</td></tr><tr><td>1824</td><td>Lowry-Wood syndrome</td></tr><tr><td>1825</td><td>Epiphyseal dysplasia-hearing loss-dysmorphism syndrome</td></tr><tr><td>1826</td><td>Frontometaphyseal dysplasia</td></tr><tr><td>1827</td><td>Acromelic frontonasal dysplasia</td></tr><tr><td>1830</td><td>Schimke immuno-osseous dysplasia</td></tr><tr><td>1832</td><td>Osteosclerotic bone dysplasia</td></tr><tr><td>1834</td><td>Axial mesodermal dysplasia spectrum</td></tr><tr><td>1836</td><td>Mesomelic dysplasia, Kantaputra type</td></tr><tr><td>1837</td><td>Metaphyseal chondrodysplasia, Rosenberg type</td></tr><tr><td>1839</td><td>Hereditary mucoepithelial dysplasia</td></tr><tr><td>1842</td><td>Bone dysplasia, lethal Holmgren type</td></tr><tr><td>1848</td><td>Renal agenesis, bilateral</td></tr><tr><td>1851</td><td>Multicystic dysplastic kidney</td></tr><tr><td>1852</td><td>X-linked retinal dysplasia</td></tr><tr><td>1855</td><td>Spondyloenchondrodysplasia</td></tr><tr><td>1856</td><td>Spondyloperipheral dysplasia-short ulna syndrome</td></tr><tr><td>1858</td><td>Skeletal dysplasia-epilepsy-short stature syndrome</td></tr><tr><td>1860</td><td>Thanatophoric dysplasia type 1</td></tr><tr><td>1861</td><td>Thoracic dysplasia-hydrocephalus syndrome</td></tr><tr><td>1865</td><td>Dyssegmental dysplasia, Silverman-Handmaker type</td></tr><tr><td>1867</td><td>Hereditary bullous dystrophy, macular type</td></tr><tr><td>1871</td><td>Progressive cone dystrophy</td></tr><tr><td>1872</td><td>Cone rod dystrophy</td></tr><tr><td>1873</td><td>Jalili syndrome</td></tr><tr><td>1875</td><td>Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome</td></tr><tr><td>1876</td><td>Oculogastrointestinal muscular dystrophy</td></tr><tr><td>1878</td><td>TRIM32-related limb-girdle muscular dystrophy R8</td></tr><tr><td>1879</td><td>Melorheostosis with osteopoikilosis</td></tr><tr><td>1880</td><td>Ebstein malformation of the tricuspid valve</td></tr><tr><td>1882</td><td>Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome</td></tr><tr><td>1883</td><td>Ectodermal dysplasia-sensorineural deafness syndrome</td></tr><tr><td>1884</td><td>Ectopia lentis-chorioretinal dystrophy-myopia syndrome</td></tr><tr><td>1885</td><td>Isolated ectopia lentis</td></tr><tr><td>1891</td><td>Intellectual disability-spasticity-ectrodactyly syndrome</td></tr><tr><td>1892</td><td>Ectrodactyly-polydactyly syndrome</td></tr><tr><td>1895</td><td>Edinburgh malformation syndrome</td></tr><tr><td>1896</td><td>EEC syndrome</td></tr><tr><td>1897</td><td>EEM syndrome</td></tr><tr><td>1899</td><td>Arthrochalasia Ehlers-Danlos syndrome</td></tr><tr><td>1900</td><td>Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency</td></tr><tr><td>1901</td><td>Dermatosparaxis Ehlers-Danlos syndrome</td></tr><tr><td>1902</td><td>Ehrlichiosis</td></tr><tr><td>1906</td><td>Fetal valproate spectrum disorder</td></tr><tr><td>1908</td><td>Aminopterin/methotrexate embryofetopathy</td></tr><tr><td>1909</td><td>Indomethacin embryofetopathy</td></tr><tr><td>1910</td><td>Fetal iodine syndrome</td></tr><tr><td>1911</td><td>Cocaine embryofetopathy</td></tr><tr><td>1912</td><td>Fetal hydantoin syndrome</td></tr><tr><td>1913</td><td>Fetal trimethadione syndrome</td></tr><tr><td>1914</td><td>Vitamin K antagonist embryofetopathy</td></tr><tr><td>1915</td><td>Fetal alcohol syndrome</td></tr><tr><td>1916</td><td>Diethylstilbestrol syndrome</td></tr><tr><td>1917</td><td>Fetal methylmercury syndrome</td></tr><tr><td>1918</td><td>Fetal minoxidil syndrome</td></tr><tr><td>1919</td><td>Phenobarbital embryopathy</td></tr><tr><td>1920</td><td>Toluene embryopathy</td></tr><tr><td>1923</td><td>Methimazole embryofetopathy</td></tr><tr><td>1926</td><td>Diabetic embryopathy</td></tr><tr><td>1927</td><td>Emery-Nelson syndrome</td></tr><tr><td>1928</td><td>Congenital lobar emphysema</td></tr><tr><td>1929</td><td>Rasmussen subacute encephalitis</td></tr><tr><td>1930</td><td>Herpes simplex virus encephalitis</td></tr><tr><td>1931</td><td>Frontal encephalocele</td></tr><tr><td>1933</td><td>Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria</td></tr><tr><td>1934</td><td>Early infantile epileptic encephalopathy</td></tr><tr><td>1935</td><td>Early myoclonic encephalopathy</td></tr><tr><td>1937</td><td>Eng-Strom syndrome</td></tr><tr><td>1941</td><td>Juvenile absence epilepsy</td></tr><tr><td>1942</td><td>Myoclonic-astatic epilepsy</td></tr><tr><td>1943</td><td>Early-onset progressive encephalopathy with migrant continuous myoclonus</td></tr><tr><td>1945</td><td>Rolandic epilepsy</td></tr><tr><td>1946</td><td>Amelocerebrohypohidrotic syndrome</td></tr><tr><td>1947</td><td>Progressive epilepsy-intellectual disability syndrome, Finnish type</td></tr><tr><td>1948</td><td>Epilepsy-microcephaly-skeletal dysplasia syndrome</td></tr><tr><td>1949</td><td>Benign familial neonatal epilepsy</td></tr><tr><td>1951</td><td>Epilepsy-telangiectasia syndrome</td></tr><tr><td>1952</td><td>Epiphyseal stippling-osteoclastic hyperplasia syndrome</td></tr><tr><td>1954</td><td>Congenital lethal erythroderma</td></tr><tr><td>1955</td><td>Spinocerebellar ataxia type 34</td></tr><tr><td>1957</td><td>Esthesioneuroblastoma</td></tr><tr><td>1959</td><td>Evans syndrome</td></tr><tr><td>1962</td><td>Exostoses-anetodermia-brachydactyly type E syndrome</td></tr><tr><td>1964</td><td>Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome</td></tr><tr><td>1968</td><td>Flat face-microstomia-ear anomaly syndrome</td></tr><tr><td>1969</td><td>Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome</td></tr><tr><td>1970</td><td>Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome</td></tr><tr><td>1972</td><td>Lethal faciocardiomelic dysplasia</td></tr><tr><td>1973</td><td>Faciocardiorenal syndrome</td></tr><tr><td>1974</td><td>Autosomal recessive faciodigitogenital syndrome</td></tr><tr><td>1979</td><td>Lipodystrophy due to peptidic growth factors deficiency</td></tr><tr><td>1980</td><td>Bilateral striopallidodentate calcinosis</td></tr><tr><td>1986</td><td>Gollop-Wolfgang complex</td></tr><tr><td>1987</td><td>Isolated femoral agenesis/hypoplasia</td></tr><tr><td>1988</td><td>Femoral-facial syndrome</td></tr><tr><td>1993</td><td>Pai syndrome</td></tr><tr><td>1995</td><td>Cleft lip-retinopathy syndrome</td></tr><tr><td>1997</td><td>Blepharo-cheilo-odontic syndrome</td></tr><tr><td>2001</td><td>Cleft lip/palate-intestinal malrotation-cardiopathy syndrome</td></tr><tr><td>2003</td><td>Cleft lip/palate-deafness-sacral lipoma syndrome</td></tr><tr><td>2004</td><td>Laryngotracheoesophageal cleft</td></tr><tr><td>2006</td><td>Median cleft lip/mandible</td></tr><tr><td>2007</td><td>Alar cartilages hypoplasia-coloboma-telecanthus syndrome</td></tr><tr><td>2008</td><td>Acrocardiofacial syndrome</td></tr><tr><td>2010</td><td>Cleft palate-stapes fixation-oligodontia syndrome</td></tr><tr><td>2013</td><td>Cleft palate-large ears-small head syndrome</td></tr><tr><td>2015</td><td>Cleft palate-short stature-vertebral anomalies syndrome</td></tr><tr><td>2016</td><td>Cleft palate-lateral synechia syndrome</td></tr><tr><td>2017</td><td>Sternal cleft</td></tr><tr><td>2019</td><td>Femur-fibula-ulna complex</td></tr><tr><td>2020</td><td>Congenital fiber-type disproportion myopathy</td></tr><tr><td>2021</td><td>Fibrochondrogenesis</td></tr><tr><td>2022</td><td>Endocardial fibroelastosis</td></tr><tr><td>2023</td><td>Undifferentiated pleomorphic sarcoma</td></tr><tr><td>2024</td><td>Hereditary gingival fibromatosis</td></tr><tr><td>2025</td><td>Gingival fibromatosis-facial dysmorphism syndrome</td></tr><tr><td>2026</td><td>Gingival fibromatosis-hypertrichosis syndrome</td></tr><tr><td>2027</td><td>Gingival fibromatosis-progressive deafness syndrome</td></tr><tr><td>2028</td><td>Juvenile hyaline fibromatosis</td></tr><tr><td>2030</td><td>Fibrosarcoma</td></tr><tr><td>2031</td><td>Hepatic fibrosis-renal cysts-intellectual disability syndrome</td></tr><tr><td>2032</td><td>Idiopathic pulmonary fibrosis</td></tr><tr><td>2035</td><td>Lymphatic filariasis</td></tr><tr><td>2036</td><td>Scalp-ear-nipple syndrome</td></tr><tr><td>2037</td><td>Congenital aortopulmonary window</td></tr><tr><td>2038</td><td>Pulmonary arteriovenous malformation</td></tr><tr><td>2039</td><td>Congenital systemic arteriovenous fistula</td></tr><tr><td>2040</td><td>Congenital respiratory-biliary fistula</td></tr><tr><td>2041</td><td>Coronary arterial fistula</td></tr><tr><td>2044</td><td>Floating-Harbor syndrome</td></tr><tr><td>2045</td><td>FLOTCH syndrome</td></tr><tr><td>2047</td><td>Flynn-Aird syndrome</td></tr><tr><td>2048</td><td>Foix-Chavany-Marie syndrome</td></tr><tr><td>2050</td><td>Cole-Carpenter syndrome</td></tr><tr><td>2052</td><td>Fraser syndrome</td></tr><tr><td>2053</td><td>Freeman-Sheldon syndrome</td></tr><tr><td>2056</td><td>Essential fructosuria</td></tr><tr><td>2057</td><td>Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome</td></tr><tr><td>2058</td><td>Fryns-Smeets-Thiry syndrome</td></tr><tr><td>2059</td><td>Fryns syndrome</td></tr><tr><td>2062</td><td>Progressive non-infectious anterior vertebral fusion</td></tr><tr><td>2063</td><td>Splenogonadal fusion-limb defects-micrognathia syndrome</td></tr><tr><td>2064</td><td>Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome</td></tr><tr><td>2065</td><td>Galloway-Mowat syndrome</td></tr><tr><td>2066</td><td>Gamma-aminobutyric acid transaminase deficiency</td></tr><tr><td>2067</td><td>GAPO syndrome</td></tr><tr><td>2069</td><td>Gastrocutaneous syndrome</td></tr><tr><td>2070</td><td>Eosinophilic gastroenteritis</td></tr><tr><td>2072</td><td>Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome</td></tr><tr><td>2073</td><td>Narcolepsy type 1</td></tr><tr><td>2074</td><td>Gemignani syndrome</td></tr><tr><td>2075</td><td>Genitopalatocardiac syndrome</td></tr><tr><td>2077</td><td>German syndrome</td></tr><tr><td>2078</td><td>Geroderma osteodysplastica</td></tr><tr><td>2083</td><td>Prominent glabella-microcephaly-hypogenitalism syndrome</td></tr><tr><td>2084</td><td>Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome</td></tr><tr><td>2085</td><td>Glaucoma-sleep apnea syndrome</td></tr><tr><td>2086</td><td>Optic pathway glioma</td></tr><tr><td>2088</td><td>Fanconi-Bickel syndrome</td></tr><tr><td>2089</td><td>Glycogen storage disease due to hepatic glycogen synthase deficiency</td></tr><tr><td>2090</td><td>GMS syndrome</td></tr><tr><td>2091</td><td>Multinodular goiter-cystic kidney-polydactyly syndrome</td></tr><tr><td>2092</td><td>Focal dermal hypoplasia</td></tr><tr><td>2095</td><td>Gorlin-Chaudhry-Moss syndrome</td></tr><tr><td>2097</td><td>Grant syndrome</td></tr><tr><td>2098</td><td>Acromesomelic dysplasia, Grebe type</td></tr><tr><td>2101</td><td>Grubben-de Cock-Borghgraef syndrome</td></tr><tr><td>2102</td><td>GTP cyclohydrolase I deficiency</td></tr><tr><td>2104</td><td>Dysmorphism-pectus carinatum-joint laxity syndrome</td></tr><tr><td>2107</td><td>Hall-Riggs syndrome</td></tr><tr><td>2108</td><td>Hallermann-Streiff syndrome</td></tr><tr><td>2109</td><td>Hallermann-Streiff-like syndrome</td></tr><tr><td>2110</td><td>Hallux varus-preaxial polysyndactyly syndrome</td></tr><tr><td>2111</td><td>Cystic hamartoma of lung and kidney</td></tr><tr><td>2114</td><td>Hip dysplasia, Beukes type</td></tr><tr><td>2115</td><td>Harrod syndrome</td></tr><tr><td>2116</td><td>Hartnup disease</td></tr><tr><td>2117</td><td>Hartsfield syndrome</td></tr><tr><td>2118</td><td>Hawkinsinuria</td></tr><tr><td>2119</td><td>HEC syndrome</td></tr><tr><td>2122</td><td>Kaposiform hemangioendothelioma</td></tr><tr><td>2123</td><td>Multifocal infantile hemangioma with extracutenous involvement</td></tr><tr><td>2126</td><td>Solitary fibrous tumor</td></tr><tr><td>2128</td><td>Isolated hemihyperplasia</td></tr><tr><td>2131</td><td>Alternating hemiplegia of childhood</td></tr><tr><td>2132</td><td>Hemoglobin C disease</td></tr><tr><td>2133</td><td>Hemoglobin E disease</td></tr><tr><td>2134</td><td>Atypical hemolytic uremic syndrome</td></tr><tr><td>2135</td><td>Hennekam-Beemer syndrome</td></tr><tr><td>2136</td><td>Hennekam syndrome</td></tr><tr><td>2137</td><td>Autoimmune hepatitis</td></tr><tr><td>2138</td><td>46,XX ovotesticular difference of sex development</td></tr><tr><td>2139</td><td>Hernández-Aguirre Negrete syndrome</td></tr><tr><td>2140</td><td>Congenital diaphragmatic hernia</td></tr><tr><td>2141</td><td>Diaphragmatic defect-limb deficiency-skull defect syndrome</td></tr><tr><td>2143</td><td>Donnai-Barrow syndrome</td></tr><tr><td>2145</td><td>Craniosynostosis, Herrmann-Opitz type</td></tr><tr><td>2148</td><td>Lissencephaly type 1 due to doublecortin gene mutation</td></tr><tr><td>2149</td><td>Nodular neuronal heterotopia</td></tr><tr><td>2150</td><td>Hirschsprung disease-type D brachydactyly syndrome</td></tr><tr><td>2151</td><td>Hirschsprung disease-ganglioneuroblastoma syndrome</td></tr><tr><td>2152</td><td>Mowat-Wilson syndrome</td></tr><tr><td>2153</td><td>Hirschsprung disease-nail hypoplasia-dysmorphism syndrome</td></tr><tr><td>2155</td><td>Hirschsprung disease-deafness-polydactyly syndrome</td></tr><tr><td>2157</td><td>Histidinemia</td></tr><tr><td>2158</td><td>Histidinuria-renal tubular defect syndrome</td></tr><tr><td>2162</td><td>Holoprosencephaly</td></tr><tr><td>2163</td><td>Holoprosencephaly-craniosynostosis syndrome</td></tr><tr><td>2165</td><td>Holoprosencephaly-caudal dysgenesis syndrome</td></tr><tr><td>2166</td><td>Holoprosencephaly-postaxial polydactyly syndrome</td></tr><tr><td>2167</td><td>Holzgreve syndrome</td></tr><tr><td>2169</td><td>Methylcobalamin deficiency type cblE</td></tr><tr><td>2170</td><td>Methylcobalamin deficiency type cblG</td></tr><tr><td>2172</td><td>Microcephaly-glomerulonephritis-marfanoid habitus syndrome</td></tr><tr><td>2176</td><td>Infantile systemic hyalinosis</td></tr><tr><td>2177</td><td>Hydranencephaly</td></tr><tr><td>2180</td><td>Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome</td></tr><tr><td>2181</td><td>Hydrocephaly-tall stature-joint laxity syndrome</td></tr><tr><td>2182</td><td>Hydrocephalus with stenosis of the aqueduct of Sylvius</td></tr><tr><td>2183</td><td>Hydrocephalus-obesity-hypogonadism syndrome</td></tr><tr><td>2184</td><td>Hydrocephaly-low insertion umbilicus syndrome</td></tr><tr><td>2185</td><td>Congenital hydrocephalus</td></tr><tr><td>2186</td><td>Hydrocephalus-blue sclerae-nephropathy syndrome</td></tr><tr><td>2189</td><td>Hydrolethalus</td></tr><tr><td>2195</td><td>Dicarboxylic aminoaciduria</td></tr><tr><td>2196</td><td>Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement</td></tr><tr><td>2197</td><td>Idiopathic hypercalciuria</td></tr><tr><td>2198</td><td>Palmoplantar keratoderma-esophageal carcinoma syndrome</td></tr><tr><td>2199</td><td>Epidermolytic palmoplantar keratoderma</td></tr><tr><td>2200</td><td>Focal palmoplantar and gingival keratoderma</td></tr><tr><td>2201</td><td>Palmoplantar keratoderma-spastic paralysis syndrome</td></tr><tr><td>2202</td><td>Palmoplantar keratoderma-deafness syndrome</td></tr><tr><td>2203</td><td>Hyperlysinemia</td></tr><tr><td>2204</td><td>Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type</td></tr><tr><td>2206</td><td>Ankylosing vertebral hyperostosis with tylosis</td></tr><tr><td>2209</td><td>Maternal phenylketonuria</td></tr><tr><td>2211</td><td>Hypertelorism-hypospadias-polysyndactyly syndrome</td></tr><tr><td>2213</td><td>Hypertelorism-microtia-facial clefting syndrome</td></tr><tr><td>2215</td><td>Multiple pterygium-malignant hyperthermia syndrome</td></tr><tr><td>2216</td><td>Maternal hyperthermia-induced birth defects</td></tr><tr><td>2218</td><td>Cervical hypertrichosis-peripheral neuropathy syndrome</td></tr><tr><td>2220</td><td>Hypertrichosis cubiti</td></tr><tr><td>2221</td><td>Acquired hypertrichosis lanuginosa</td></tr><tr><td>2222</td><td>Hypertrichosis lanuginosa congenita</td></tr><tr><td>2224</td><td>Hypertryptophanemia</td></tr><tr><td>2228</td><td>Hypodontia-dysplasia of nails syndrome</td></tr><tr><td>2229</td><td>Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome</td></tr><tr><td>2230</td><td>Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome</td></tr><tr><td>2232</td><td>Primary hypergonadotropic hypogonadism-partial alopecia syndrome</td></tr><tr><td>2233</td><td>Hypogonadism-mitral valve prolapse-intellectual disability syndrome</td></tr><tr><td>2234</td><td>Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome</td></tr><tr><td>2235</td><td>Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome</td></tr><tr><td>2237</td><td>Hypoparathyroidism-sensorineural deafness-renal disease syndrome</td></tr><tr><td>2238</td><td>Familial isolated hypoparathyroidism</td></tr><tr><td>2239</td><td>Familial isolated hypoparathyroidism due to agenesis of parathyroid gland</td></tr><tr><td>2241</td><td>Megacystis-microcolon-intestinal hypoperistalsis syndrome</td></tr><tr><td>2246</td><td>Cerebellar hypoplasia-tapetoretinal degeneration syndrome</td></tr><tr><td>2248</td><td>Hypoplastic left heart syndrome</td></tr><tr><td>2249</td><td>Ulna hypoplasia-intellectual disability syndrome</td></tr><tr><td>2250</td><td>Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome</td></tr><tr><td>2251</td><td>Thumb deformity-alopecia-pigmentation anomaly syndrome</td></tr><tr><td>2252</td><td>Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome</td></tr><tr><td>2253</td><td>Foveal hypoplasia-presenile cataract syndrome</td></tr><tr><td>2254</td><td>Pontocerebellar hypoplasia type 1</td></tr><tr><td>2255</td><td>Pancreatic hypoplasia-diabetes-congenital heart disease syndrome</td></tr><tr><td>2256</td><td>Fibulo-ulnar hypoplasia-renal anomalies syndrome</td></tr><tr><td>2257</td><td>Primary pulmonary hypoplasia</td></tr><tr><td>2260</td><td>Oligomeganephronia</td></tr><tr><td>2261</td><td>Hypospadias-intellectual disability, Goldblatt type syndrome</td></tr><tr><td>2266</td><td>Hypotrichosis-intellectual disability, Lopes type</td></tr><tr><td>2268</td><td>ICF syndrome</td></tr><tr><td>2269</td><td>Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome</td></tr><tr><td>2271</td><td>Congenital ichthyosis-microcephalus-tetraplegia syndrome</td></tr><tr><td>2272</td><td>Ichthyosis-oral and digital anomalies syndrome</td></tr><tr><td>2273</td><td>Ichthyosis follicularis-alopecia-photophobia syndrome</td></tr><tr><td>2274</td><td>Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome</td></tr><tr><td>2278</td><td>Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome</td></tr><tr><td>2282</td><td>Dysmorphism-short stature-deafness-difference of sex development syndrome</td></tr><tr><td>2285</td><td>Primary basilar invagination</td></tr><tr><td>2287</td><td>Fused mandibular incisors</td></tr><tr><td>2289</td><td>Neuronal intranuclear inclusion disease</td></tr><tr><td>2290</td><td>Microvillus inclusion disease</td></tr><tr><td>2291</td><td>Congenital velopharyngeal incompetence</td></tr><tr><td>2295</td><td>Familial articular hypermobility syndrome</td></tr><tr><td>2297</td><td>Insulin-resistance syndrome type A</td></tr><tr><td>2298</td><td>Insulin-resistance syndrome type B</td></tr><tr><td>2299</td><td>Aortic arch interruption</td></tr><tr><td>2300</td><td>Multiple intestinal atresia</td></tr><tr><td>2301</td><td>Congenital short bowel syndrome</td></tr><tr><td>2302</td><td>Asbestos intoxication</td></tr><tr><td>2305</td><td>Isotretinoin syndrome</td></tr><tr><td>2306</td><td>Isotretinoin-like syndrome</td></tr><tr><td>2307</td><td>IVIC syndrome</td></tr><tr><td>2308</td><td>Jacobsen syndrome</td></tr><tr><td>2309</td><td>Pachyonychia congenita</td></tr><tr><td>2310</td><td>Absence deformity of leg-cataract syndrome</td></tr><tr><td>2311</td><td>Autosomal recessive spondylocostal dysostosis</td></tr><tr><td>2312</td><td>Transient familial neonatal hyperbilirubinemia</td></tr><tr><td>2314</td><td>Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency</td></tr><tr><td>2315</td><td>Johanson-Blizzard syndrome</td></tr><tr><td>2316</td><td>Johnson neuroectodermal syndrome</td></tr><tr><td>2318</td><td>Joubert syndrome with oculorenal defect</td></tr><tr><td>2319</td><td>Juberg-Hayward syndrome</td></tr><tr><td>2321</td><td>Jung syndrome</td></tr><tr><td>2322</td><td>Kabuki syndrome</td></tr><tr><td>2323</td><td>Sanjad-Sakati syndrome</td></tr><tr><td>2324</td><td>Osteopenia-intellectual disability-sparse hair syndrome</td></tr><tr><td>2325</td><td>Epidermolysis bullosa simplex with anodontia/hypodontia</td></tr><tr><td>2326</td><td>Kallmann syndrome-heart disease syndrome</td></tr><tr><td>2328</td><td>Kapur-Toriello syndrome</td></tr><tr><td>2329</td><td>Karsch-Neugebauer syndrome</td></tr><tr><td>2330</td><td>Kasabach-Merritt phenomenon</td></tr><tr><td>2331</td><td>Kawasaki disease</td></tr><tr><td>2332</td><td>KBG syndrome</td></tr><tr><td>2333</td><td>Kenny-Caffey syndrome</td></tr><tr><td>2334</td><td>Autosomal dominant keratitis</td></tr><tr><td>2337</td><td>Diffuse palmoplantar keratoderma, Bothnian type</td></tr><tr><td>2339</td><td>Keratosis follicularis-dwarfism-cerebral atrophy syndrome</td></tr><tr><td>2340</td><td>Keratosis follicularis spinulosa decalvans</td></tr><tr><td>2342</td><td>Haim-Munk syndrome</td></tr><tr><td>2345</td><td>Isolated Klippel-Feil syndrome</td></tr><tr><td>2347</td><td>Lethal Kniest-like dysplasia</td></tr><tr><td>2348</td><td>Familial partial lipodystrophy, Dunnigan type</td></tr><tr><td>2349</td><td>Muscular pseudohypertrophy-hypothyroidism syndrome</td></tr><tr><td>2351</td><td>Kousseff syndrome</td></tr><tr><td>2353</td><td>Schilbach-Rott syndrome</td></tr><tr><td>2356</td><td>Arachnoid cyst</td></tr><tr><td>2357</td><td>Bronchogenic cyst</td></tr><tr><td>2363</td><td>Lacrimoauriculodentodigital syndrome</td></tr><tr><td>2364</td><td>Glycogen storage disease due to lactate dehydrogenase deficiency</td></tr><tr><td>2368</td><td>Gastroschisis</td></tr><tr><td>2369</td><td>Limb body wall complex</td></tr><tr><td>2370</td><td>Larsen-like osseous dysplasia-short stature syndrome</td></tr><tr><td>2371</td><td>Lethal Larsen-like syndrome</td></tr><tr><td>2372</td><td>Laryngocele</td></tr><tr><td>2373</td><td>Congenital laryngomalacia</td></tr><tr><td>2374</td><td>Isolated congenital laryngeal web</td></tr><tr><td>2375</td><td>Laryngeal abductor paralysis-intellectual disability syndrome</td></tr><tr><td>2377</td><td>Laurence-Moon syndrome</td></tr><tr><td>2378</td><td>Laurin-Sandrow syndrome</td></tr><tr><td>2379</td><td>Early-onset parkinsonism-intellectual disability syndrome</td></tr><tr><td>2380</td><td>Legg-Calvé-Perthes disease</td></tr><tr><td>2382</td><td>Lennox-Gastaut syndrome</td></tr><tr><td>2386</td><td>Leukoencephalopathy-palmoplantar keratoderma syndrome</td></tr><tr><td>2387</td><td>Leukonychia totalis</td></tr><tr><td>2388</td><td>Choreoacanthocytosis</td></tr><tr><td>2390</td><td>Lichtenstein syndrome</td></tr><tr><td>2391</td><td>Congenitally short costocoracoid ligament</td></tr><tr><td>2394</td><td>Pyruvate dehydrogenase E3 deficiency</td></tr><tr><td>2396</td><td>Encephalocraniocutaneous lipomatosis</td></tr><tr><td>2398</td><td>Multiple symmetric lipomatosis</td></tr><tr><td>2399</td><td>Nasopalpebral lipoma-coloboma syndrome</td></tr><tr><td>2400</td><td>Peripheral motor neuropathy-dysautonomia syndrome</td></tr><tr><td>2404</td><td>Loiasis</td></tr><tr><td>2405</td><td>Thickened earlobes-conductive deafness syndrome</td></tr><tr><td>2406</td><td>Locked-in syndrome</td></tr><tr><td>2407</td><td>Laryngo-onycho-cutaneous syndrome</td></tr><tr><td>2408</td><td>Lowe-Kohn-Cohen syndrome</td></tr><tr><td>2409</td><td>Lowry-MacLean syndrome</td></tr><tr><td>2410</td><td>Hypergonadotropic hypogonadism-cataract syndrome</td></tr><tr><td>2412</td><td>Dislocation of the hip-dysmorphism syndrome</td></tr><tr><td>2414</td><td>Congenital pulmonary lymphangiectasia</td></tr><tr><td>2420</td><td>Primary pulmonary lymphoma</td></tr><tr><td>2427</td><td>Macrocephaly-short stature-paraplegia syndrome</td></tr><tr><td>2429</td><td>Macrocephaly-spastic paraplegia-dysmorphism syndrome</td></tr><tr><td>2430</td><td>Congenital macroglossia</td></tr><tr><td>2432</td><td>Macrosomia-microphthalmia-cleft palate syndrome</td></tr><tr><td>2435</td><td>Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome</td></tr><tr><td>2437</td><td>Czeizel-Losonci syndrome</td></tr><tr><td>2438</td><td>Hand-foot-genital syndrome</td></tr><tr><td>2439</td><td>Patterson-Stevenson-Fontaine syndrome</td></tr><tr><td>2440</td><td>Isolated split hand-split foot malformation</td></tr><tr><td>2444</td><td>Congenital pulmonary airway malformation</td></tr><tr><td>2451</td><td>Mucocutaneous venous malformations</td></tr><tr><td>2456</td><td>Familial supernumerary nipples</td></tr><tr><td>2457</td><td>Mandibuloacral dysplasia</td></tr><tr><td>2459</td><td>Mansonelliasis</td></tr><tr><td>2460</td><td>Van den Ende-Gupta syndrome</td></tr><tr><td>2461</td><td>Marden-Walker syndrome</td></tr><tr><td>2462</td><td>Shprintzen-Goldberg syndrome</td></tr><tr><td>2463</td><td>Marfanoid habitus-autosomal recessive intellectual disability syndrome</td></tr><tr><td>2464</td><td>Marfanoid syndrome, De Silva type</td></tr><tr><td>2466</td><td>MASA syndrome</td></tr><tr><td>2470</td><td>Matthew-Wood syndrome</td></tr><tr><td>2471</td><td>McDonough syndrome</td></tr><tr><td>2473</td><td>McKusick-Kaufman syndrome</td></tr><tr><td>2475</td><td>White forelock with malformations</td></tr><tr><td>2476</td><td>Dysraphism-cleft lip/palate-limb reduction defects syndrome</td></tr><tr><td>2477</td><td>Megalencephaly</td></tr><tr><td>2478</td><td>Megalencephalic leukoencephalopathy with subcortical cysts</td></tr><tr><td>2479</td><td>Megalocornea-intellectual disability syndrome</td></tr><tr><td>2481</td><td>Neurocutaneous melanocytosis</td></tr><tr><td>2482</td><td>Melhem-Fahl syndrome</td></tr><tr><td>2483</td><td>Melkersson-Rosenthal syndrome</td></tr><tr><td>2484</td><td>Melnick-Needles syndrome</td></tr><tr><td>2485</td><td>Melorheostosis</td></tr><tr><td>2487</td><td>Lower limb malformation-hypospadias syndrome</td></tr><tr><td>2489</td><td>Upper limb defect-eye and ear abnormalities syndrome</td></tr><tr><td>2491</td><td>Müllerian duct anomalies-limb anomalies syndrome</td></tr><tr><td>2492</td><td>FATCO syndrome</td></tr><tr><td>2494</td><td>Ménétrier disease</td></tr><tr><td>2495</td><td>Meningioma</td></tr><tr><td>2496</td><td>Mesomelia-synostoses syndrome</td></tr><tr><td>2497</td><td>Upper limb mesomelic dysplasia, type Fryns</td></tr><tr><td>2498</td><td>Syndactyly type 8</td></tr><tr><td>2499</td><td>Metachondromatosis</td></tr><tr><td>2500</td><td>Acrogeria</td></tr><tr><td>2501</td><td>Metaphyseal chondrodysplasia, Spahr type</td></tr><tr><td>2502</td><td>Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome</td></tr><tr><td>2504</td><td>Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome</td></tr><tr><td>2505</td><td>Multiple benign circumferential skin creases on limbs</td></tr><tr><td>2508</td><td>Corpus callosum agenesis-abnormal genitalia syndrome</td></tr><tr><td>2510</td><td>Micro syndrome</td></tr><tr><td>2511</td><td>Microbrachycephaly-ptosis-cleft lip syndrome</td></tr><tr><td>2512</td><td>Autosomal recessive primary microcephaly</td></tr><tr><td>2513</td><td>Microcephaly-albinism-digital anomalies syndrome</td></tr><tr><td>2514</td><td>Autosomal dominant primary microcephaly</td></tr><tr><td>2515</td><td>Microcephaly-cardiomyopathy syndrome</td></tr><tr><td>2516</td><td>Microcephaly-cardiac defect-lung malsegmentation syndrome</td></tr><tr><td>2518</td><td>Autosomal recessive chorioretinopathy-microcephaly syndrome</td></tr><tr><td>2519</td><td>Microcephaly-seizures-intellectual disability-heart disease syndrome</td></tr><tr><td>2521</td><td>Microcephaly-cleft palate-abnormal retinal pigmentation syndrome</td></tr><tr><td>2522</td><td>Microcephaly-cervical spine fusion anomalies syndrome</td></tr><tr><td>2523</td><td>Microcephaly-brain defect-spasticity-hypernatremia syndrome</td></tr><tr><td>2524</td><td>Pontocerebellar hypoplasia type 2</td></tr><tr><td>2526</td><td>Microcephaly-lymphedema-chorioretinopathy syndrome</td></tr><tr><td>2528</td><td>Microcephaly-microcornea syndrome, Seemanova type</td></tr><tr><td>2533</td><td>Microcephaly-deafness-intellectual disability syndrome</td></tr><tr><td>2536</td><td>Microcornea-glaucoma-absent frontal sinuses syndrome</td></tr><tr><td>2538</td><td>Microgastria-limb reduction defect syndrome</td></tr><tr><td>2547</td><td>Microphthalmia-microtia-fetal akinesia syndrome</td></tr><tr><td>2549</td><td>Oculoauriculovertebral spectrum with radial defects</td></tr><tr><td>2551</td><td>Microspherophakia-metaphyseal dysplasia syndrome</td></tr><tr><td>2552</td><td>Microsporidiosis</td></tr><tr><td>2554</td><td>Ear-patella-short stature syndrome</td></tr><tr><td>2556</td><td>Microphthalmia with linear skin defects syndrome</td></tr><tr><td>2557</td><td>Mietens syndrome</td></tr><tr><td>2558</td><td>Mikati-Najjar-Sahli syndrome</td></tr><tr><td>2560</td><td>Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome</td></tr><tr><td>2561</td><td>Pyramidal molars-abnormal upper lip syndrome</td></tr><tr><td>2563</td><td>MOMO syndrome</td></tr><tr><td>2564</td><td>Tetramelic monodactyly</td></tr><tr><td>2565</td><td>Mononen-Karnes-Senac syndrome</td></tr><tr><td>2566</td><td>Chronic Epstein-Barr virus infection syndrome</td></tr><tr><td>2570</td><td>Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome</td></tr><tr><td>2571</td><td>X-linked immunoneurologic disorder</td></tr><tr><td>2572</td><td>Spastic ataxia-corneal dystrophy syndrome</td></tr><tr><td>2573</td><td>Moyamoya disease</td></tr><tr><td>2574</td><td>Moynahan syndrome</td></tr><tr><td>2575</td><td>Cystic fibrosis-gastritis-megaloblastic anemia syndrome</td></tr><tr><td>2576</td><td>Mulibrey nanism</td></tr><tr><td>2578</td><td>Mayer-Rokitansky-Küster-Hauser syndrome type 2</td></tr><tr><td>2579</td><td>Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome</td></tr><tr><td>2582</td><td>Myalgia-eosinophilia syndrome associated with tryptophan</td></tr><tr><td>2583</td><td>Mycetoma</td></tr><tr><td>2584</td><td>Classic mycosis fungoides</td></tr><tr><td>2585</td><td>Ataxia-pancytopenia syndrome</td></tr><tr><td>2587</td><td>Myeloperoxidase deficiency</td></tr><tr><td>2588</td><td>Myhre syndrome</td></tr><tr><td>2589</td><td>Myoclonus-cerebellar ataxia-deafness syndrome</td></tr><tr><td>2590</td><td>Spinal muscular atrophy-progressive myoclonic epilepsy syndrome</td></tr><tr><td>2591</td><td>Infantile myofibromatosis</td></tr><tr><td>2593</td><td>Tubular aggregate myopathy</td></tr><tr><td>2596</td><td>Myopathy and diabetes mellitus</td></tr><tr><td>2597</td><td>Mitochondrial myopathy-lactic acidosis-deafness syndrome</td></tr><tr><td>2598</td><td>Mitochondrial myopathy and sideroblastic anemia</td></tr><tr><td>2604</td><td>Familial visceral myopathy</td></tr><tr><td>2608</td><td>N syndrome</td></tr><tr><td>2609</td><td>Isolated complex I deficiency</td></tr><tr><td>2611</td><td>Linear verrucous nevus syndrome</td></tr><tr><td>2612</td><td>Linear nevus sebaceus syndrome</td></tr><tr><td>2613</td><td>Nail-patella-like renal disease</td></tr><tr><td>2614</td><td>Nail-patella syndrome</td></tr><tr><td>2616</td><td>3M syndrome</td></tr><tr><td>2617</td><td>Microcephalic primordial dwarfism, Montreal type</td></tr><tr><td>2619</td><td>Brachydactylous dwarfism, Mseleni type</td></tr><tr><td>2623</td><td>Geleophysic dysplasia</td></tr><tr><td>2631</td><td>Mesomelic dwarfism-cleft palate-camptodactyly syndrome</td></tr><tr><td>2632</td><td>Langer mesomelic dysplasia</td></tr><tr><td>2633</td><td>Mesomelic dysplasia, Nievergelt type</td></tr><tr><td>2634</td><td>Mesomelic dwarfism, Reinhardt-Pfeiffer type</td></tr><tr><td>2635</td><td>Metatropic dysplasia</td></tr><tr><td>2636</td><td>Microcephalic osteodysplastic primordial dwarfism types I and III</td></tr><tr><td>2637</td><td>Microcephalic osteodysplastic primordial dwarfism type II</td></tr><tr><td>2639</td><td>Fibular aplasia-complex brachydactyly syndrome</td></tr><tr><td>2643</td><td>Microcephalic primordial dwarfism, Toriello type</td></tr><tr><td>2645</td><td>Osteoglosphonic dysplasia</td></tr><tr><td>2655</td><td>Thanatophoric dysplasia</td></tr><tr><td>2658</td><td>Lenz-Majewski hyperostotic dwarfism</td></tr><tr><td>2662</td><td>Keipert syndrome</td></tr><tr><td>2663</td><td>Nathalie syndrome</td></tr><tr><td>2665</td><td>Congenital mesoblastic nephroma</td></tr><tr><td>2666</td><td>Adult familial nephronophthisis-spastic quadriparesia syndrome</td></tr><tr><td>2668</td><td>Nephropathy-deafness-hyperparathyroidism syndrome</td></tr><tr><td>2669</td><td>Nephrosis-deafness-urinary tract-digital malformations syndrome</td></tr><tr><td>2670</td><td>Pierson syndrome</td></tr><tr><td>2671</td><td>Neu-Laxova syndrome</td></tr><tr><td>2672</td><td>Neuhauser-Eichner-Opitz syndrome</td></tr><tr><td>2673</td><td>Neurofaciodigitorenal syndrome</td></tr><tr><td>2674</td><td>Cyprus facial-neuromusculoskeletal syndrome</td></tr><tr><td>2678</td><td>Familial isolated café-au-lait macules</td></tr><tr><td>2680</td><td>Hypomyelination neuropathy-arthrogryposis syndrome</td></tr><tr><td>2686</td><td>Cyclic neutropenia</td></tr><tr><td>2688</td><td>Adult idiopathic neutropenia</td></tr><tr><td>2690</td><td>Neutropenia-monocytopenia-deafness syndrome</td></tr><tr><td>2695</td><td>Bifid nose</td></tr><tr><td>2697</td><td>Arthrogryposis-renal dysfunction-cholestasis syndrome</td></tr><tr><td>2698</td><td>Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome</td></tr><tr><td>2699</td><td>Median nodule of the upper lip</td></tr><tr><td>2700</td><td>Noma</td></tr><tr><td>2701</td><td>Noonan syndrome-like disorder with loose anagen hair</td></tr><tr><td>2703</td><td>Port-wine nevi-mega cisterna magna-hydrocephalus syndrome</td></tr><tr><td>2704</td><td>Urofacial syndrome</td></tr><tr><td>2707</td><td>Oculocerebrofacial syndrome, Kaufman type</td></tr><tr><td>2709</td><td>Oculodental syndrome, Rutherfurd type</td></tr><tr><td>2710</td><td>Oculodentodigital dysplasia</td></tr><tr><td>2712</td><td>Oculofaciocardiodental syndrome</td></tr><tr><td>2713</td><td>Oculoosteocutaneous syndrome</td></tr><tr><td>2714</td><td>Oculo-palato-cerebral syndrome</td></tr><tr><td>2715</td><td>Severe oculo-renal-cerebellar syndrome</td></tr><tr><td>2717</td><td>Oculotrichoanal syndrome</td></tr><tr><td>2718</td><td>Oculotrichodysplasia</td></tr><tr><td>2719</td><td>Oculocerebral hypopigmentation syndrome, Cross type</td></tr><tr><td>2720</td><td>Oculocerebral hypopigmentation syndrome, Preus type</td></tr><tr><td>2721</td><td>Odonto-onycho-dermal dysplasia</td></tr><tr><td>2722</td><td>Odonto-onycho dysplasia-alopecia syndrome</td></tr><tr><td>2723</td><td>Odontotrichomelic syndrome</td></tr><tr><td>2724</td><td>Odontomatosis-aortae esophagus stenosis syndrome</td></tr><tr><td>2728</td><td>Blepharophimosis-intellectual disability syndrome, Ohdo type</td></tr><tr><td>2730</td><td>Postaxial tetramelic oligodactyly</td></tr><tr><td>2732</td><td>Olivopontocerebellar atrophy-deafness syndrome</td></tr><tr><td>2733</td><td>Omodysplasia</td></tr><tr><td>2736</td><td>Lethal omphalocele-cleft palate syndrome</td></tr><tr><td>2737</td><td>Onchocerciasis</td></tr><tr><td>2741</td><td>Ophthalmomandibulomelic dysplasia</td></tr><tr><td>2743</td><td>Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome</td></tr><tr><td>2744</td><td>Horizontal gaze palsy with progressive scoliosis</td></tr><tr><td>2745</td><td>Opitz GBBB syndrome</td></tr><tr><td>2746</td><td>Opsismodysplasia</td></tr><tr><td>2750</td><td>Orofaciodigital syndrome type 1</td></tr><tr><td>2751</td><td>Orofaciodigital syndrome type 2</td></tr><tr><td>2753</td><td>Orofaciodigital syndrome type 4</td></tr><tr><td>2754</td><td>Orofaciodigital syndrome type 6</td></tr><tr><td>2755</td><td>Orofaciodigital syndrome type 8</td></tr><tr><td>2759</td><td>Imperforate oropharynx-costovertebral anomalies syndrome</td></tr><tr><td>2760</td><td>OSLAM syndrome</td></tr><tr><td>2762</td><td>Progressive osseous heteroplasia</td></tr><tr><td>2763</td><td>Osteocraniostenosis</td></tr><tr><td>2764</td><td>Osteochondritis dissecans</td></tr><tr><td>2767</td><td>Carpotarsal osteochondromatosis</td></tr><tr><td>2768</td><td>Blount disease</td></tr><tr><td>2769</td><td>Familial osteodysplasia, Anderson type</td></tr><tr><td>2770</td><td>Nasu-Hakola disease</td></tr><tr><td>2771</td><td>Bruck syndrome</td></tr><tr><td>2772</td><td>Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome</td></tr><tr><td>2773</td><td>Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome</td></tr><tr><td>2774</td><td>Multicentric carpo-tarsal osteolysis with or without nephropathy</td></tr><tr><td>2776</td><td>Autosomal recessive distal osteolysis syndrome</td></tr><tr><td>2777</td><td>Osteomesopyknosis</td></tr><tr><td>2779</td><td>Osteopathia striata-pigmentary dermopathy-white forelock syndrome</td></tr><tr><td>2780</td><td>Osteopathia striata-cranial sclerosis syndrome</td></tr><tr><td>2783</td><td>Autosomal dominant osteopetrosis type 1</td></tr><tr><td>2785</td><td>Osteopetrosis with renal tubular acidosis</td></tr><tr><td>2786</td><td>Osteoporosis-oculocutaneous hypopigmentation syndrome</td></tr><tr><td>2787</td><td>Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome</td></tr><tr><td>2788</td><td>Osteoporosis-pseudoglioma syndrome</td></tr><tr><td>2789</td><td>Lateral meningocele syndrome</td></tr><tr><td>2790</td><td>Endosteal hyperostosis, Worth type</td></tr><tr><td>2791</td><td>Otodental syndrome</td></tr><tr><td>2792</td><td>Otofaciocervical syndrome</td></tr><tr><td>2793</td><td>Otoonychoperoneal syndrome</td></tr><tr><td>2795</td><td>Fowler urethral sphincter dysfunction syndrome</td></tr><tr><td>2796</td><td>Pachydermoperiostosis</td></tr><tr><td>2798</td><td>Pachygyria-intellectual disability-epilepsy syndrome</td></tr><tr><td>2800</td><td>Extramammary Paget disease</td></tr><tr><td>2801</td><td>Juvenile Paget disease</td></tr><tr><td>2802</td><td>X-linked sideroblastic anemia and spinocerebellar ataxia</td></tr><tr><td>2804</td><td>W syndrome</td></tr><tr><td>2805</td><td>Partial pancreatic agenesis</td></tr><tr><td>2806</td><td>Subacute sclerosing leukoencephalitis</td></tr><tr><td>2807</td><td>Papilloma of choroid plexus</td></tr><tr><td>2808</td><td>Laryngeal abductor paralysis</td></tr><tr><td>2809</td><td>Familial recurrent peripheral facial palsy</td></tr><tr><td>2812</td><td>Parana hard skin syndrome</td></tr><tr><td>2815</td><td>Spastic paraparesis-deafness syndrome</td></tr><tr><td>2818</td><td>Spastic paraplegia-glaucoma-intellectual disability syndrome</td></tr><tr><td>2819</td><td>Spastic paraplegia-facial-cutaneous lesions syndrome</td></tr><tr><td>2820</td><td>Spastic paraplegia-nephritis-deafness syndrome</td></tr><tr><td>2821</td><td>Spastic paraplegia-neuropathy-poikiloderma syndrome</td></tr><tr><td>2822</td><td>Autosomal recessive spastic paraplegia type 11</td></tr><tr><td>2824</td><td>Paraplegia-intellectual disability-hyperkeratosis syndrome</td></tr><tr><td>2825</td><td>PARC syndrome</td></tr><tr><td>2826</td><td>Spastic paraplegia-precocious puberty syndrome</td></tr><tr><td>2828</td><td>Young-onset Parkinson disease</td></tr><tr><td>2831</td><td>Rhizomelic dysplasia, Patterson-Lowry type</td></tr><tr><td>2832</td><td>Short tarsus-absence of lower eyelashes syndrome</td></tr><tr><td>2833</td><td>Stiff skin syndrome</td></tr><tr><td>2834</td><td>Wrinkly skin syndrome</td></tr><tr><td>2835</td><td>Pectus excavatum-macrocephaly-dysplastic nails syndrome</td></tr><tr><td>2836</td><td>PEHO syndrome</td></tr><tr><td>2838</td><td>Renal caliceal diverticuli-deafness syndrome</td></tr><tr><td>2839</td><td>Pelvis-shoulder dysplasia</td></tr><tr><td>2840</td><td>Pelvic dysplasia-arthrogryposis of lower limbs syndrome</td></tr><tr><td>2841</td><td>Hailey-Hailey disease</td></tr><tr><td>2842</td><td>Penoscrotal transposition</td></tr><tr><td>2843</td><td>Pentosuria</td></tr><tr><td>2847</td><td>Pericardial and diaphragmatic defect</td></tr><tr><td>2848</td><td>Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome</td></tr><tr><td>2849</td><td>Perlman syndrome</td></tr><tr><td>2850</td><td>Alopecia-intellectual disability syndrome</td></tr><tr><td>2854</td><td>Fuhrmann syndrome</td></tr><tr><td>2855</td><td>Perrault syndrome</td></tr><tr><td>2856</td><td>Persistent Müllerian duct syndrome</td></tr><tr><td>2863</td><td>Short stature-wormian bones-dextrocardia syndrome</td></tr><tr><td>2865</td><td>Short stature-webbed neck-heart disease syndrome</td></tr><tr><td>2866</td><td>Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome</td></tr><tr><td>2867</td><td>Short stature, Brussels type</td></tr><tr><td>2868</td><td>Short stature-valvular heart disease-characteristic facies syndrome</td></tr><tr><td>2869</td><td>Peutz-Jeghers syndrome</td></tr><tr><td>2871</td><td>Pfeiffer-Palm-Teller syndrome</td></tr><tr><td>2872</td><td>Cardiocranial syndrome, Pfeiffer type</td></tr><tr><td>2874</td><td>Phakomatosis pigmentokeratotica</td></tr><tr><td>2875</td><td>Phakomatosis pigmentovascularis</td></tr><tr><td>2876</td><td>PHAVER syndrome</td></tr><tr><td>2879</td><td>Phocomelia, Schinzel type</td></tr><tr><td>2880</td><td>Phosphoenolpyruvate carboxykinase deficiency</td></tr><tr><td>2881</td><td>Cutaneous photosensitivity-lethal colitis syndrome</td></tr><tr><td>2882</td><td>Sitosterolemia</td></tr><tr><td>2884</td><td>Piebaldism</td></tr><tr><td>2885</td><td>Piebald trait-neurologic defects syndrome</td></tr><tr><td>2886</td><td>TARP syndrome</td></tr><tr><td>2888</td><td>Pierre Robin syndrome-faciodigital anomaly syndrome</td></tr><tr><td>2889</td><td>Pili torti</td></tr><tr><td>2890</td><td>Pili torti-onychodysplasia syndrome</td></tr><tr><td>2891</td><td>Pili torti-developmental delay-neurological abnormalities syndrome</td></tr><tr><td>2892</td><td>Pilodental dysplasia-refractive errors syndrome</td></tr><tr><td>2896</td><td>Pitt-Hopkins syndrome</td></tr><tr><td>2897</td><td>Pityriasis rubra pilaris</td></tr><tr><td>2898</td><td>X-linked intellectual disability-plagiocephaly syndrome</td></tr><tr><td>2899</td><td>Brachyolmia-amelogenesis imperfecta syndrome</td></tr><tr><td>2900</td><td>Leri pleonosteosis</td></tr><tr><td>2901</td><td>Neuralgic amyotrophy</td></tr><tr><td>2902</td><td>Idiopathic chronic eosinophilic pneumonia</td></tr><tr><td>2903</td><td>Familial spontaneous pneumothorax</td></tr><tr><td>2905</td><td>POEMS syndrome</td></tr><tr><td>2907</td><td>Hereditary acrokeratotic poikiloderma</td></tr><tr><td>2908</td><td>Kindler epidermolysis bullosa</td></tr><tr><td>2909</td><td>Rothmund-Thomson syndrome</td></tr><tr><td>2911</td><td>Poland syndrome</td></tr><tr><td>2912</td><td>Poliomyelitis</td></tr><tr><td>2916</td><td>Postaxial polydactyly-dental and vertebral anomalies syndrome</td></tr><tr><td>2917</td><td>Polydactyly-myopia syndrome</td></tr><tr><td>2919</td><td>Orofaciodigital syndrome type 5</td></tr><tr><td>2920</td><td>Oliver syndrome</td></tr><tr><td>2921</td><td>Preaxial polydactyly-colobomata-intellectual disability syndrome</td></tr><tr><td>2924</td><td>Isolated polycystic liver disease</td></tr><tr><td>2926</td><td>Digital extensor muscle aplasia-polyneuropathy</td></tr><tr><td>2928</td><td>Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome</td></tr><tr><td>2929</td><td>Juvenile polyposis syndrome</td></tr><tr><td>2930</td><td>Cronkhite-Canada syndrome</td></tr><tr><td>2932</td><td>Chronic inflammatory demyelinating polyneuropathy</td></tr><tr><td>2934</td><td>Polysyndactyly-cardiac malformation syndrome</td></tr><tr><td>2935</td><td>Crossed polysyndactyly</td></tr><tr><td>2940</td><td>Porencephaly</td></tr><tr><td>2941</td><td>Porencephaly-cerebellar hypoplasia-internal malformations syndrome</td></tr><tr><td>2942</td><td>Postpoliomyelitis syndrome</td></tr><tr><td>2946</td><td>Brachydactyly-long thumb syndrome</td></tr><tr><td>2947</td><td>Triphalangeal thumbs-brachyectrodactyly syndrome</td></tr><tr><td>2951</td><td>Absent thumb-short stature-immunodeficiency syndrome</td></tr><tr><td>2952</td><td>Adducted thumbs-arthrogryposis syndrome, Christian type</td></tr><tr><td>2953</td><td>Musculocontractural Ehlers-Danlos syndrome</td></tr><tr><td>2956</td><td>Acrodysplasia scoliosis</td></tr><tr><td>2957</td><td>Guttmacher syndrome</td></tr><tr><td>2958</td><td>X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome</td></tr><tr><td>2959</td><td>Progeria-short stature-pigmented nevi syndrome</td></tr><tr><td>2962</td><td>De Barsy syndrome</td></tr><tr><td>2963</td><td>Progeroid syndrome, Petty type</td></tr><tr><td>2964</td><td>Autosomal dominant prognathism</td></tr><tr><td>2965</td><td>Prolactinoma</td></tr><tr><td>2966</td><td>Properdin deficiency</td></tr><tr><td>2967</td><td>Transcobalamin I deficiency</td></tr><tr><td>2968</td><td>Leukocyte adhesion deficiency</td></tr><tr><td>2969</td><td>Proteus-like syndrome</td></tr><tr><td>2970</td><td>Prune belly syndrome</td></tr><tr><td>2971</td><td>Peroxisomal acyl-CoA oxidase deficiency</td></tr><tr><td>2972</td><td>Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome</td></tr><tr><td>2973</td><td>46,XX difference of sex development-anorectal anomalies syndrome</td></tr><tr><td>2975</td><td>46,XX difference of sex development-skeletal anomalies syndrome</td></tr><tr><td>2976</td><td>Pseudoleprechaunism syndrome, Patterson type</td></tr><tr><td>2978</td><td>Chronic intestinal pseudoobstruction</td></tr><tr><td>2980</td><td>Acrootoocular syndrome</td></tr><tr><td>2983</td><td>Difference of sex development-intellectual disability syndrome</td></tr><tr><td>2985</td><td>Pseudoprogeria syndrome</td></tr><tr><td>2987</td><td>Antecubital pterygium syndrome</td></tr><tr><td>2988</td><td>Pterygium colli-intellectual disability-digital anomalies syndrome</td></tr><tr><td>2989</td><td>Familial pterygium of the conjunctiva</td></tr><tr><td>2990</td><td>Autosomal recessive multiple pterygium syndrome</td></tr><tr><td>2994</td><td>Short stature-craniofacial anomalies-genital hypoplasia syndrome</td></tr><tr><td>2995</td><td>Baraitser-Winter cerebrofrontofacial syndrome</td></tr><tr><td>2997</td><td>Ptosis-vocal cord paralysis syndrome</td></tr><tr><td>2999</td><td>Ptosis-strabismus-ectopic pupils syndrome</td></tr><tr><td>3000</td><td>Familial peripheral male-limited precocious puberty</td></tr><tr><td>3002</td><td>Immune thrombocytopenia</td></tr><tr><td>3003</td><td>Pyknoachondrogenesis</td></tr><tr><td>3004</td><td>Mirror polydactyly-vertebral segmentation-limbs defects syndrome</td></tr><tr><td>3005</td><td>Pyle disease</td></tr><tr><td>3006</td><td>Pyridoxine-dependent epilepsy</td></tr><tr><td>3008</td><td>Pyruvate carboxylase deficiency</td></tr><tr><td>3010</td><td>Qazi-Markouizos syndrome</td></tr><tr><td>3011</td><td>Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome</td></tr><tr><td>3015</td><td>Radio-renal syndrome</td></tr><tr><td>3016</td><td>Absent radius-anogenital anomalies syndrome</td></tr><tr><td>3018</td><td>Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome</td></tr><tr><td>3019</td><td>Ramon syndrome</td></tr><tr><td>3020</td><td>Ramsay Hunt syndrome</td></tr><tr><td>3021</td><td>RAPADILINO syndrome</td></tr><tr><td>3023</td><td>External auditory canal atresia-vertical talus-hypertelorism syndrome</td></tr><tr><td>3026</td><td>Radial ray hypoplasia-choanal atresia syndrome</td></tr><tr><td>3027</td><td>Caudal regression syndrome</td></tr><tr><td>3032</td><td>NPHP3-related Meckel-like syndrome</td></tr><tr><td>3033</td><td>Renal tubular dysgenesis</td></tr><tr><td>3034</td><td>Delayed membranous cranial ossification</td></tr><tr><td>3035</td><td>Growth delay-hydrocephaly-lung hypoplasia syndrome</td></tr><tr><td>3038</td><td>Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome</td></tr><tr><td>3041</td><td>Intellectual disability-balding-patella luxation-acromicria syndrome</td></tr><tr><td>3042</td><td>Intellectual disability-cataracts-calcified pinnae-myopathy syndrome</td></tr><tr><td>3044</td><td>Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome</td></tr><tr><td>3047</td><td>Blepharophimosis-intellectual disability syndrome, SBBYS type</td></tr><tr><td>3051</td><td>Nicolaides-Baraitser syndrome</td></tr><tr><td>3052</td><td>X-linked intellectual disability-seizures-psoriasis syndrome</td></tr><tr><td>3055</td><td>X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome</td></tr><tr><td>3057</td><td>Monoamine oxidase A deficiency</td></tr><tr><td>3063</td><td>X-linked intellectual disability, Snyder type</td></tr><tr><td>3068</td><td>Intellectual disability-myopathy-short stature-endocrine defect syndrome</td></tr><tr><td>3071</td><td>Costello syndrome</td></tr><tr><td>3074</td><td>Intellectual disability-short stature-hypertelorism syndrome</td></tr><tr><td>3077</td><td>X-linked intellectual disability-psychosis-macroorchidism syndrome</td></tr><tr><td>3078</td><td>Severe X-linked intellectual disability, Gustavson type</td></tr><tr><td>3079</td><td>Intellectual disability, Buenos-Aires type</td></tr><tr><td>3080</td><td>Intellectual disability, Wolff type</td></tr><tr><td>3082</td><td>Intellectual disability-polydactyly-uncombable hair syndrome</td></tr><tr><td>3085</td><td>Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome</td></tr><tr><td>3086</td><td>Autosomal dominant vitreoretinochoroidopathy</td></tr><tr><td>3088</td><td>Revesz syndrome</td></tr><tr><td>3092</td><td>Fixed subaortic stenosis</td></tr><tr><td>3093</td><td>Congenital aortic valve stenosis</td></tr><tr><td>3095</td><td>Atypical Rett syndrome</td></tr><tr><td>3096</td><td>Reye syndrome</td></tr><tr><td>3097</td><td>Meacham syndrome</td></tr><tr><td>3098</td><td>Rhizomelic syndrome, Urbach type</td></tr><tr><td>3099</td><td>Rheumatic fever</td></tr><tr><td>3101</td><td>Richieri Costa-da Silva syndrome</td></tr><tr><td>3102</td><td>Richieri Costa-Pereira syndrome</td></tr><tr><td>3103</td><td>Roberts syndrome</td></tr><tr><td>3104</td><td>Robin sequence-oligodactyly syndrome</td></tr><tr><td>3107</td><td>Autosomal dominant Robinow syndrome</td></tr><tr><td>3109</td><td>Mayer-Rokitansky-Küster-Hauser syndrome</td></tr><tr><td>3110</td><td>Rombo syndrome</td></tr><tr><td>3111</td><td>Rotor syndrome</td></tr><tr><td>3115</td><td>Roussy-Lévy syndrome</td></tr><tr><td>3121</td><td>Ruvalcaba syndrome</td></tr><tr><td>3124</td><td>Saccharopinuria</td></tr><tr><td>3129</td><td>Sarcosinemia</td></tr><tr><td>3130</td><td>Satoyoshi syndrome</td></tr><tr><td>3132</td><td>Say-Barber-Miller syndrome</td></tr><tr><td>3134</td><td>SCARF syndrome</td></tr><tr><td>3137</td><td>Alpha-N-acetylgalactosaminidase deficiency</td></tr><tr><td>3138</td><td>Ulnar-mammary syndrome</td></tr><tr><td>3143</td><td>Autoimmune polyendocrinopathy type 2</td></tr><tr><td>3144</td><td>Schneckenbecken dysplasia</td></tr><tr><td>3145</td><td>Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome</td></tr><tr><td>3148</td><td>Malignant peripheral nerve sheath tumor</td></tr><tr><td>3151</td><td>Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome</td></tr><tr><td>3152</td><td>Sclerosteosis</td></tr><tr><td>3156</td><td>Senior-Loken syndrome</td></tr><tr><td>3157</td><td>Septo-optic dysplasia spectrum</td></tr><tr><td>3161</td><td>Congenital pulmonary sequestration</td></tr><tr><td>3162</td><td>Sézary syndrome</td></tr><tr><td>3163</td><td>SHORT syndrome</td></tr><tr><td>3164</td><td>Omphalocele syndrome, Shprintzen-Goldberg type</td></tr><tr><td>3165</td><td>Eosinophilic fasciitis</td></tr><tr><td>3166</td><td>Sialuria</td></tr><tr><td>3167</td><td>Siegler-Brewer-Carey syndrome</td></tr><tr><td>3168</td><td>Sillence syndrome</td></tr><tr><td>3169</td><td>Sirenomelia</td></tr><tr><td>3172</td><td>Eyebrow duplication-syndactyly syndrome</td></tr><tr><td>3173</td><td>Infantile spasms-broad thumbs syndrome</td></tr><tr><td>3175</td><td>X-linked spasticity-intellectual disability-epilepsy syndrome</td></tr><tr><td>3176</td><td>Spina bifida-hypospadias syndrome</td></tr><tr><td>3177</td><td>Spinocerebellar degeneration-corneal dystrophy syndrome</td></tr><tr><td>3180</td><td>Spondylocamptodactyly syndrome</td></tr><tr><td>3181</td><td>Sprengel deformity</td></tr><tr><td>3184</td><td>Steatocystoma multiplex-natal teeth syndrome</td></tr><tr><td>3186</td><td>Holoprosencephaly-radial heart renal anomalies syndrome</td></tr><tr><td>3189</td><td>Congenital pulmonary valvar stenosis</td></tr><tr><td>3190</td><td>Subpulmonary stenosis</td></tr><tr><td>3191</td><td>Subaortic stenosis-short stature syndrome</td></tr><tr><td>3192</td><td>Supravalvular pulmonary stenosis</td></tr><tr><td>3193</td><td>Supravalvular aortic stenosis</td></tr><tr><td>3194</td><td>Corneodermatoosseous syndrome</td></tr><tr><td>3196</td><td>Steroid dehydrogenase deficiency-dental anomalies syndrome</td></tr><tr><td>3197</td><td>Hereditary hyperekplexia</td></tr><tr><td>3198</td><td>Stiff person spectrum disorder</td></tr><tr><td>3199</td><td>Stimmler syndrome</td></tr><tr><td>3200</td><td>Arthrogryposis-ectodermal dysplasia syndrome</td></tr><tr><td>3201</td><td>Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome</td></tr><tr><td>3202</td><td>Dehydrated hereditary stomatocytosis</td></tr><tr><td>3203</td><td>Overhydrated hereditary stomatocytosis</td></tr><tr><td>3204</td><td>Stormorken-Sjaastad-Langslet syndrome</td></tr><tr><td>3205</td><td>Sturge-Weber syndrome</td></tr><tr><td>3206</td><td>Stüve-Wiedemann syndrome</td></tr><tr><td>3207</td><td>White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome</td></tr><tr><td>3208</td><td>Isolated succinate-CoQ reductase deficiency</td></tr><tr><td>3214</td><td>Deaf blind hypopigmentation syndrome, Yemenite type</td></tr><tr><td>3216</td><td>Conductive deafness-malformed external ear syndrome</td></tr><tr><td>3217</td><td>Deafness-small bowel diverticulosis-neuropathy syndrome</td></tr><tr><td>3218</td><td>Deafness-epiphyseal dysplasia-short stature syndrome</td></tr><tr><td>3219</td><td>Fountain syndrome</td></tr><tr><td>3220</td><td>Deafness-enamel hypoplasia-nail defects syndrome</td></tr><tr><td>3222</td><td>Phosphoribosylpyrophosphate synthetase superactivity</td></tr><tr><td>3224</td><td>Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome</td></tr><tr><td>3225</td><td>Hearing loss-familial salivary gland insensitivity to aldosterone syndrome</td></tr><tr><td>3230</td><td>Deafness-oligodontia syndrome</td></tr><tr><td>3232</td><td>Deafness-ear malformation-facial palsy syndrome</td></tr><tr><td>3233</td><td>Cochleosaccular degeneration-cataract syndrome</td></tr><tr><td>3235</td><td>Progressive deafness with stapes fixation</td></tr><tr><td>3236</td><td>Conductive deafness-ptosis-skeletal anomalies syndrome</td></tr><tr><td>3237</td><td>Multiple synostoses syndrome</td></tr><tr><td>3238</td><td>Cardiospondylocarpofacial syndrome</td></tr><tr><td>3239</td><td>Deafness-vitiligo-achalasia syndrome</td></tr><tr><td>3240</td><td>Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome</td></tr><tr><td>3241</td><td>Deafness-craniofacial syndrome</td></tr><tr><td>3242</td><td>Renpenning syndrome</td></tr><tr><td>3243</td><td>Sweet syndrome</td></tr><tr><td>3246</td><td>Symphalangism with multiple anomalies of hands and feet</td></tr><tr><td>3248</td><td>Isolated distal symphalangism</td></tr><tr><td>3250</td><td>Proximal symphalangism</td></tr><tr><td>3253</td><td>Cleft lip/palate-ectodermal dysplasia syndrome</td></tr><tr><td>3255</td><td>Filippi syndrome</td></tr><tr><td>3258</td><td>Cenani-Lenz syndrome</td></tr><tr><td>3259</td><td>Syndactyly-polydactyly-ear lobe syndrome</td></tr><tr><td>3260</td><td>Idiopathic hypereosinophilic syndrome</td></tr><tr><td>3261</td><td>Autoimmune lymphoproliferative syndrome</td></tr><tr><td>3262</td><td>Dobrow syndrome</td></tr><tr><td>3263</td><td>Syngnathia-cleft palate syndrome</td></tr><tr><td>3265</td><td>Isolated humero-radial synostosis</td></tr><tr><td>3266</td><td>Isolated humero-radio-ulnar synostosis</td></tr><tr><td>3268</td><td>Radioulnar synostosis-microcephaly-scoliosis syndrome</td></tr><tr><td>3269</td><td>Isolated radio-ulnar synostosis</td></tr><tr><td>3270</td><td>Radioulnar synostosis-developmental delay-hypotonia syndrome</td></tr><tr><td>3273</td><td>Synovial sarcoma</td></tr><tr><td>3275</td><td>Spondylocarpotarsal synostosis</td></tr><tr><td>3282</td><td>Multifocal atrial tachycardia</td></tr><tr><td>3283</td><td>His bundle tachycardia</td></tr><tr><td>3286</td><td>Catecholaminergic polymorphic ventricular tachycardia</td></tr><tr><td>3287</td><td>Takayasu arteritis</td></tr><tr><td>3291</td><td>Teebi-Shaltout syndrome</td></tr><tr><td>3292</td><td>Tel Hashomer camptodactyly syndrome</td></tr><tr><td>3293</td><td>Telecanthus-hypertelorism-strabismus-pes cavus syndrome</td></tr><tr><td>3294</td><td>Extensor tendons of finger anomalies</td></tr><tr><td>3299</td><td>Tetanus</td></tr><tr><td>3301</td><td>Tetraamelia-multiple malformations syndrome</td></tr><tr><td>3303</td><td>Tetralogy of Fallot</td></tr><tr><td>3304</td><td>Fallot complex-intellectual disability-growth delay syndrome</td></tr><tr><td>3305</td><td>Tetraploidy</td></tr><tr><td>3306</td><td>Inverted duplicated chromosome 15 syndrome</td></tr><tr><td>3307</td><td>Tetrasomy 18p</td></tr><tr><td>3309</td><td>Tetrasomy 5p</td></tr><tr><td>3310</td><td>Tetrasomy 9p</td></tr><tr><td>3312</td><td>Thalidomide embryopathy</td></tr><tr><td>3314</td><td>Thiemann disease, familial form</td></tr><tr><td>3316</td><td>Thomas syndrome</td></tr><tr><td>3317</td><td>Thoracolaryngopelvic dysplasia</td></tr><tr><td>3318</td><td>Essential thrombocythemia</td></tr><tr><td>3319</td><td>Congenital amegakaryocytic thrombocytopenia</td></tr><tr><td>3320</td><td>Thrombocytopenia-absent radius syndrome</td></tr><tr><td>3322</td><td>Hoyeraal-Hreidarsson syndrome</td></tr><tr><td>3324</td><td>Familial thrombomodulin anomalies</td></tr><tr><td>3325</td><td>Heparin-induced thrombocytopenia</td></tr><tr><td>3326</td><td>Thymic-renal-anal-lung dysplasia</td></tr><tr><td>3327</td><td>Thyrocerebrorenal syndrome</td></tr><tr><td>3328</td><td>Absent tibia-polydactyly-arachnoid cyst syndrome</td></tr><tr><td>3329</td><td>Tibial aplasia-ectrodactyly syndrome</td></tr><tr><td>3337</td><td>Primary Fanconi renotubular syndrome</td></tr><tr><td>3338</td><td>Toriello-Carey syndrome</td></tr><tr><td>3339</td><td>Oculoectodermal syndrome</td></tr><tr><td>3341</td><td>Torticollis-keloids-cryptorchidism-renal dysplasia syndrome</td></tr><tr><td>3342</td><td>Arterial tortuosity syndrome</td></tr><tr><td>3343</td><td>Toxocariasis</td></tr><tr><td>3344</td><td>Weismann-Netter syndrome</td></tr><tr><td>3346</td><td>Tracheal agenesis</td></tr><tr><td>3347</td><td>Mounier-Kühn syndrome</td></tr><tr><td>3348</td><td>Tracheobronchopathia osteochondroplastica</td></tr><tr><td>3350</td><td>Tremor-nystagmus-duodenal ulcer syndrome</td></tr><tr><td>3351</td><td>Trichodental syndrome</td></tr><tr><td>3352</td><td>Tricho-dento-osseous syndrome</td></tr><tr><td>3353</td><td>Trichodermodysplasia-dental alterations syndrome</td></tr><tr><td>3355</td><td>Trichoodontoonychial dysplasia</td></tr><tr><td>3361</td><td>Trichodysplasia-xeroderma syndrome</td></tr><tr><td>3363</td><td>Trichomegaly-retina pigmentary degeneration-dwarfism syndrome</td></tr><tr><td>3365</td><td>Trigonocephaly-broad thumbs syndrome</td></tr><tr><td>3366</td><td>Non-syndromic metopic craniosynostosis</td></tr><tr><td>3368</td><td>Trigonocephaly-bifid nose-acral anomalies syndrome</td></tr><tr><td>3369</td><td>Trigonocephaly-short stature-developmental delay syndrome</td></tr><tr><td>3374</td><td>Unilateral ocular duplication</td></tr><tr><td>3375</td><td>Trisomy X</td></tr><tr><td>3376</td><td>Triploidy</td></tr><tr><td>3377</td><td>Trismus-pseudocamptodactyly syndrome</td></tr><tr><td>3378</td><td>Trisomy 13</td></tr><tr><td>3379</td><td>Distal duplication 17q</td></tr><tr><td>3380</td><td>Trisomy 18</td></tr><tr><td>3383</td><td>Humerus trochlea aplasia</td></tr><tr><td>3384</td><td>Common arterial trunk</td></tr><tr><td>3385</td><td>African trypanosomiasis</td></tr><tr><td>3386</td><td>American trypanosomiasis</td></tr><tr><td>3387</td><td>Isolated anterior cervical hypertrichosis</td></tr><tr><td>3392</td><td>Tularemia</td></tr><tr><td>3400</td><td>Aorto-ventricular tunnel</td></tr><tr><td>3402</td><td>Transient tyrosinemia of the newborn</td></tr><tr><td>3403</td><td>Uhl anomaly</td></tr><tr><td>3404</td><td>Ulbright-Hodes syndrome</td></tr><tr><td>3405</td><td>Umbilical cord ulceration-intestinal atresia syndrome</td></tr><tr><td>3406</td><td>Ulerythema ophryogenesis</td></tr><tr><td>3408</td><td>Upington disease</td></tr><tr><td>3409</td><td>Urban-Rogers-Meyer syndrome</td></tr><tr><td>3411</td><td>Double uterus-hemivagina-renal agenesis syndrome</td></tr><tr><td>3412</td><td>VACTERL with hydrocephalus</td></tr><tr><td>3416</td><td>Hyperostosis corticalis generalisata</td></tr><tr><td>3417</td><td>Van den Bosch syndrome</td></tr><tr><td>3424</td><td>Velo-facial-skeletal syndrome</td></tr><tr><td>3426</td><td>Double outlet right ventricle</td></tr><tr><td>3427</td><td>Double outlet left ventricle</td></tr><tr><td>3429</td><td>Verloove Vanhorick-Brubakk syndrome</td></tr><tr><td>3433</td><td>Microcephaly-brachydactyly-kyphoscoliosis syndrome</td></tr><tr><td>3434</td><td>MMEP syndrome</td></tr><tr><td>3437</td><td>Vogt-Koyanagi-Harada disease</td></tr><tr><td>3439</td><td>Von Voss-Cherstvoy syndrome</td></tr><tr><td>3440</td><td>Waardenburg syndrome</td></tr><tr><td>3447</td><td>Weaver syndrome</td></tr><tr><td>3448</td><td>Weaver-Williams syndrome</td></tr><tr><td>3449</td><td>Weill-Marchesani syndrome</td></tr><tr><td>3451</td><td>Infantile spasms syndrome</td></tr><tr><td>3452</td><td>Whipple disease</td></tr><tr><td>3453</td><td>Autoimmune polyendocrinopathy type 1</td></tr><tr><td>3454</td><td>Intellectual disability-developmental delay-contractures syndrome</td></tr><tr><td>3455</td><td>Wiedemann-Rautenstrauch syndrome</td></tr><tr><td>3456</td><td>Wildervanck syndrome</td></tr><tr><td>3459</td><td>Wilson-Turner syndrome</td></tr><tr><td>3463</td><td>Wolfram syndrome</td></tr><tr><td>3464</td><td>Woodhouse-Sakati syndrome</td></tr><tr><td>3465</td><td>Worster-Drought syndrome</td></tr><tr><td>3466</td><td>WT limb-blood syndrome</td></tr><tr><td>3467</td><td>Hereditary xanthinuria</td></tr><tr><td>3469</td><td>XK aprosencephaly syndrome</td></tr><tr><td>3471</td><td>Young syndrome</td></tr><tr><td>3472</td><td>Yunis-Varon syndrome</td></tr><tr><td>3473</td><td>Zimmermann-Laband syndrome</td></tr><tr><td>3474</td><td>CHIME syndrome</td></tr><tr><td>25968</td><td>Benign occipital epilepsy</td></tr><tr><td>25980</td><td>X-linked myopathy with excessive autophagy</td></tr><tr><td>26106</td><td>Hereditary diffuse gastric cancer</td></tr><tr><td>26137</td><td>Juvenile temporal arteritis</td></tr><tr><td>26348</td><td>Acquired prothrombin deficiency</td></tr><tr><td>26349</td><td>Protein S acquired deficiency</td></tr><tr><td>26790</td><td>Pseudomyxoma peritonei</td></tr><tr><td>26791</td><td>Multiple acyl-CoA dehydrogenase deficiency</td></tr><tr><td>26792</td><td>Short chain acyl-CoA dehydrogenase deficiency</td></tr><tr><td>26793</td><td>Very long chain acyl-CoA dehydrogenase deficiency</td></tr><tr><td>28378</td><td>Tyrosinemia type 2</td></tr><tr><td>29072</td><td>Hereditary pheochromocytoma-paraganglioma</td></tr><tr><td>29073</td><td>Multiple myeloma</td></tr><tr><td>29207</td><td>Reactive arthritis</td></tr><tr><td>29822</td><td>Spontaneous periodic hypothermia</td></tr><tr><td>30391</td><td>Isolated biliary atresia</td></tr><tr><td>30924</td><td>Primary hypomagnesemia with secondary hypocalcemia</td></tr><tr><td>30925</td><td>Hereditary arginine vasopressin deficiency</td></tr><tr><td>31043</td><td>Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement</td></tr><tr><td>31112</td><td>Dermatofibrosarcoma protuberans</td></tr><tr><td>31150</td><td>Tangier disease</td></tr><tr><td>31202</td><td>Melioidosis</td></tr><tr><td>31204</td><td>Nocardiosis</td></tr><tr><td>31205</td><td>Rat-bite fever</td></tr><tr><td>31709</td><td>Infantile convulsions and choreoathetosis</td></tr><tr><td>31824</td><td>Colchicine poisoning</td></tr><tr><td>31825</td><td>Methanol poisoning</td></tr><tr><td>31826</td><td>Ethylene glycol poisoning</td></tr><tr><td>31827</td><td>Paraquat poisoning</td></tr><tr><td>31828</td><td>Digitalis poisoning</td></tr><tr><td>31837</td><td>Pulmonary venoocclusive disease</td></tr><tr><td>32960</td><td>Tumor necrosis factor receptor 1 associated periodic syndrome</td></tr><tr><td>33001</td><td>Lymphedema-distichiasis syndrome</td></tr><tr><td>33067</td><td>Metaphyseal chondrodysplasia, Jansen type</td></tr><tr><td>33069</td><td>Dravet syndrome</td></tr><tr><td>33108</td><td>Lethal multiple pterygium syndrome</td></tr><tr><td>33110</td><td>Autosomal agammaglobulinemia</td></tr><tr><td>33111</td><td>Granulomatous slack skin</td></tr><tr><td>33208</td><td>Idiopathic hypersomnia</td></tr><tr><td>33226</td><td>Waldenström macroglobulinemia</td></tr><tr><td>33276</td><td>Kaposi sarcoma</td></tr><tr><td>33314</td><td>Jessner lymphocytic infiltration of the skin</td></tr><tr><td>33355</td><td>Reticular dysgenesis</td></tr><tr><td>33364</td><td>Trichothiodystrophy</td></tr><tr><td>33402</td><td>Pediatric hepatocellular carcinoma</td></tr><tr><td>33408</td><td>Bullous lichen planus</td></tr><tr><td>33445</td><td>Neuroectodermal melanolysosomal disease</td></tr><tr><td>33475</td><td>Meningococcal meningitis</td></tr><tr><td>33543</td><td>Kleine-Levin syndrome</td></tr><tr><td>33572</td><td>5-oxoprolinase deficiency</td></tr><tr><td>33573</td><td>Gamma-glutamyl transpeptidase deficiency</td></tr><tr><td>33574</td><td>Glutamate-cysteine ligase deficiency</td></tr><tr><td>33577</td><td>Nodular non-suppurative panniculitis</td></tr><tr><td>34145</td><td>Immunoglobulin A nephropathy</td></tr><tr><td>34149</td><td>Autosomal dominant tubulointerstitial kidney disease</td></tr><tr><td>34217</td><td>Naxos disease</td></tr><tr><td>34514</td><td>Telethonin-related limb-girdle muscular dystrophy R7</td></tr><tr><td>34515</td><td>FKRP-related limb-girdle muscular dystrophy R9</td></tr><tr><td>34516</td><td>DNAJB6-related limb-girdle muscular dystrophy D1</td></tr><tr><td>34520</td><td>Congenital muscular dystrophy with integrin alpha-7 deficiency</td></tr><tr><td>34528</td><td>Autosomal dominant primary hypomagnesemia with hypocalciuria</td></tr><tr><td>34587</td><td>Danon disease</td></tr><tr><td>34592</td><td>Immunodeficiency by defective expression of MHC class I</td></tr><tr><td>35062</td><td>Severe disseminated cytomegalovirus infection in immunocompetent patients</td></tr><tr><td>35063</td><td>Fulminant viral hepatitis</td></tr><tr><td>35069</td><td>Infantile neuroaxonal dystrophy</td></tr><tr><td>35078</td><td>T-B+ severe combined immunodeficiency due to JAK3 deficiency</td></tr><tr><td>35093</td><td>Non-syndromic sagittal craniosynostosis</td></tr><tr><td>35099</td><td>Non-syndromic bicoronal craniosynostosis</td></tr><tr><td>35107</td><td>Desmosterolosis</td></tr><tr><td>35120</td><td>Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency</td></tr><tr><td>35121</td><td>Lysosomal acid phosphatase deficiency</td></tr><tr><td>35122</td><td>Congenital sucrase-isomaltase deficiency</td></tr><tr><td>35125</td><td>Epidermal nevus syndrome</td></tr><tr><td>35173</td><td>X-linked dominant chondrodysplasia punctata</td></tr><tr><td>35612</td><td>Nanophthalmos</td></tr><tr><td>35664</td><td>ALDH18A1-related De Barsy syndrome</td></tr><tr><td>35686</td><td>Serpiginous choroiditis</td></tr><tr><td>35687</td><td>Erdheim-Chester disease</td></tr><tr><td>35689</td><td>Primary lateral sclerosis</td></tr><tr><td>35701</td><td>3-hydroxy-3-methylglutaryl-CoA synthase deficiency</td></tr><tr><td>35704</td><td>L-Arginine:glycine amidinotransferase deficiency</td></tr><tr><td>35706</td><td>Glutaric acidemia type 3</td></tr><tr><td>35708</td><td>Aromatic L-amino acid decarboxylase deficiency</td></tr><tr><td>35710</td><td>Glucose-galactose malabsorption</td></tr><tr><td>35737</td><td>Morning glory disc anomaly</td></tr><tr><td>35858</td><td>Imerslund-Gräsbeck syndrome</td></tr><tr><td>35878</td><td>Hyperinsulinism-hyperammonemia syndrome</td></tr><tr><td>35889</td><td>Acute opioid intoxication</td></tr><tr><td>35909</td><td>Combined deficiency of factor V and factor VIII</td></tr><tr><td>36234</td><td>Bacterial toxic-shock syndrome</td></tr><tr><td>36235</td><td>Staphylococcal scarlet fever</td></tr><tr><td>36236</td><td>Staphylococcal scalded skin syndrome</td></tr><tr><td>36237</td><td>Bullous impetigo</td></tr><tr><td>36238</td><td>Staphylococcal necrotizing pneumonia</td></tr><tr><td>36258</td><td>Buerger disease</td></tr><tr><td>36273</td><td>Gastric linitis plastica</td></tr><tr><td>36355</td><td>Bleeding disorder due to P2Y12 defect</td></tr><tr><td>36367</td><td>Distal deletion 1q</td></tr><tr><td>36382</td><td>Familial cervical artery dissection</td></tr><tr><td>36383</td><td>COL4A1/2-related familial vascular leukoencephalopathy</td></tr><tr><td>36386</td><td>Hereditary sensory and autonomic neuropathy type 1</td></tr><tr><td>36387</td><td>Generalized epilepsy with febrile seizures-plus</td></tr><tr><td>36397</td><td>Adiposis dolorosa</td></tr><tr><td>36412</td><td>Hypocomplementemic urticarial vasculitis</td></tr><tr><td>36426</td><td>Stevens-Johnson syndrome</td></tr><tr><td>36899</td><td>Myoclonus-dystonia syndrome</td></tr><tr><td>36913</td><td>Autoimmune hypoparathyroidism</td></tr><tr><td>37042</td><td>Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome</td></tr><tr><td>37202</td><td>Interstitial cystitis</td></tr><tr><td>37553</td><td>Andersen-Tawil syndrome</td></tr><tr><td>37559</td><td>Acquired kinky hair syndrome</td></tr><tr><td>37612</td><td>Episodic ataxia type 1</td></tr><tr><td>37748</td><td>Schnitzler syndrome</td></tr><tr><td>38874</td><td>Dihydropyrimidinuria</td></tr><tr><td>39041</td><td>Omenn syndrome</td></tr><tr><td>39044</td><td>Uveal melanoma</td></tr><tr><td>39812</td><td>Graft versus host disease</td></tr><tr><td>40366</td><td>Acitretin/etretinate embryopathy</td></tr><tr><td>40923</td><td>Eales disease</td></tr><tr><td>41751</td><td>Bietti crystalline dystrophy</td></tr><tr><td>42062</td><td>Iminoglycinuria</td></tr><tr><td>42642</td><td>PFAPA syndrome</td></tr><tr><td>42665</td><td>Tietz syndrome</td></tr><tr><td>42775</td><td>PHACE syndrome</td></tr><tr><td>43115</td><td>Hereditary myopathy with lactic acidosis due to ISCU deficiency</td></tr><tr><td>43116</td><td>Serotonin syndrome</td></tr><tr><td>43117</td><td>Acute tricyclic antidepressant poisoning</td></tr><tr><td>43119</td><td>Acute poisoning by drugs with membrane-stabilizing effect</td></tr><tr><td>43393</td><td>Lambert-Eaton myasthenic syndrome</td></tr><tr><td>44890</td><td>Gastrointestinal stromal tumor</td></tr><tr><td>45358</td><td>Congenital fibrosis of extraocular muscles</td></tr><tr><td>45448</td><td>Miyoshi myopathy</td></tr><tr><td>45452</td><td>Idiopathic neonatal atrial flutter</td></tr><tr><td>45453</td><td>Incessant infant ventricular tachycardia</td></tr><tr><td>46059</td><td>Lathosterolosis</td></tr><tr><td>46135</td><td>Primary central nervous system lymphoma</td></tr><tr><td>46348</td><td>Paroxysmal extreme pain disorder</td></tr><tr><td>46486</td><td>Mucous membrane pemphigoid</td></tr><tr><td>46487</td><td>Epidermolysis bullosa acquisita</td></tr><tr><td>46488</td><td>Linear IgA dermatosis</td></tr><tr><td>46532</td><td>Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome</td></tr><tr><td>46627</td><td>Char syndrome</td></tr><tr><td>46724</td><td>Cerebral arteriovenous malformation</td></tr><tr><td>47044</td><td>Hereditary papillary renal cell carcinoma</td></tr><tr><td>47045</td><td>Familial cold urticaria</td></tr><tr><td>47159</td><td>Proximal renal tubular acidosis</td></tr><tr><td>47612</td><td>Felty syndrome</td></tr><tr><td>48104</td><td>Pyoderma gangrenosum</td></tr><tr><td>48162</td><td>Lewis-Sumner syndrome</td></tr><tr><td>48372</td><td>Nodular regenerative hyperplasia of the liver</td></tr><tr><td>48377</td><td>Subcorneal pustular dermatosis</td></tr><tr><td>48431</td><td>Congenital cataracts-facial dysmorphism-neuropathy syndrome</td></tr><tr><td>48435</td><td>Postinfectious vasculitis</td></tr><tr><td>48652</td><td>Phelan-McDermid syndrome</td></tr><tr><td>48686</td><td>Primary effusion lymphoma</td></tr><tr><td>48736</td><td>Embryonal carcinoma of the central nervous system</td></tr><tr><td>48818</td><td>Aceruloplasminemia</td></tr><tr><td>48918</td><td>Focal myositis</td></tr><tr><td>49041</td><td>IgG4-related retroperitoneal fibrosis</td></tr><tr><td>49042</td><td>Dentinogenesis imperfecta</td></tr><tr><td>49382</td><td>Achromatopsia</td></tr><tr><td>49566</td><td>Acquired purpura fulminans</td></tr><tr><td>49804</td><td>Lichen amyloidosis</td></tr><tr><td>49827</td><td>Thiamine-responsive megaloblastic anemia syndrome</td></tr><tr><td>50251</td><td>Pleural mesothelioma</td></tr><tr><td>50809</td><td>Talo-patello-scaphoid osteolysis</td></tr><tr><td>50810</td><td>Microlissencephaly-micromelia syndrome</td></tr><tr><td>50811</td><td>Lipodystrophy-intellectual disability-deafness syndrome</td></tr><tr><td>50812</td><td>Zellweger-like syndrome without peroxisomal anomalies</td></tr><tr><td>50814</td><td>Craniolenticulosutural dysplasia</td></tr><tr><td>50815</td><td>Branchiogenic deafness syndrome</td></tr><tr><td>50817</td><td>Duane anomaly-myopathy-scoliosis syndrome</td></tr><tr><td>50839</td><td>Cat-scratch disease</td></tr><tr><td>50918</td><td>Kikuchi-Fujimoto disease</td></tr><tr><td>50942</td><td>Striate palmoplantar keratoderma</td></tr><tr><td>50943</td><td>Keratolytic winter erythema</td></tr><tr><td>50944</td><td>Schöpf-Schulz-Passarge syndrome</td></tr><tr><td>50945</td><td>Blomstrand lethal chondrodysplasia</td></tr><tr><td>51083</td><td>Familial short QT syndrome</td></tr><tr><td>51084</td><td>Torsade-de-pointes syndrome with short coupling interval</td></tr><tr><td>51188</td><td>Ethylmalonic encephalopathy</td></tr><tr><td>51208</td><td>Formiminoglutamic aciduria</td></tr><tr><td>51608</td><td>Generalized arterial calcification of infancy</td></tr><tr><td>51636</td><td>WHIM syndrome</td></tr><tr><td>51890</td><td>Anterior cutaneous nerve entrapment syndrome</td></tr><tr><td>52022</td><td>Potocki-Shaffer syndrome</td></tr><tr><td>52047</td><td>Braddock syndrome</td></tr><tr><td>52054</td><td>Craniosynostosis-intracranial calcifications syndrome</td></tr><tr><td>52055</td><td>Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome</td></tr><tr><td>52056</td><td>Ulnar/fibula ray defect-brachydactyly syndrome</td></tr><tr><td>52368</td><td>Mohr-Tranebjaerg syndrome</td></tr><tr><td>52416</td><td>Mantle cell lymphoma</td></tr><tr><td>52417</td><td>MALT lymphoma</td></tr><tr><td>52427</td><td>Retinitis punctata albescens</td></tr><tr><td>52429</td><td>Branchiootic syndrome</td></tr><tr><td>52430</td><td>Inclusion body myopathy with Paget disease of bone and frontotemporal dementia</td></tr><tr><td>52503</td><td>X-linked creatine transporter deficiency</td></tr><tr><td>52530</td><td>Pseudo-von Willebrand disease</td></tr><tr><td>52901</td><td>Isolated follicle stimulating hormone deficiency</td></tr><tr><td>52994</td><td>Orbital leiomyoma</td></tr><tr><td>53035</td><td>Caroli disease</td></tr><tr><td>53271</td><td>Muenke syndrome</td></tr><tr><td>53296</td><td>Familial cutaneous collagenoma</td></tr><tr><td>53347</td><td>Brody myopathy</td></tr><tr><td>53351</td><td>X-linked dystonia-parkinsonism</td></tr><tr><td>53372</td><td>Hereditary geniospasm</td></tr><tr><td>53540</td><td>Goldmann-Favre syndrome</td></tr><tr><td>53583</td><td>Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity</td></tr><tr><td>53689</td><td>Congenital chloride diarrhea</td></tr><tr><td>53690</td><td>Congenital lactase deficiency</td></tr><tr><td>53691</td><td>Congenital cornea plana</td></tr><tr><td>53693</td><td>GRACILE syndrome</td></tr><tr><td>53696</td><td>Arthrogryposis-anterior horn cell disease syndrome</td></tr><tr><td>53697</td><td>Gnathodiaphyseal dysplasia</td></tr><tr><td>53698</td><td>Myosin storage myopathy</td></tr><tr><td>53715</td><td>Familial tumoral calcinosis</td></tr><tr><td>53719</td><td>Wyburn-Mason syndrome</td></tr><tr><td>53721</td><td>Spinal arteriovenous metameric syndrome</td></tr><tr><td>54028</td><td>Plummer-Vinson syndrome</td></tr><tr><td>54057</td><td>Thrombotic thrombocytopenic purpura</td></tr><tr><td>54247</td><td>Posterior cortical atrophy</td></tr><tr><td>54251</td><td>Aseptic abscess syndrome</td></tr><tr><td>54260</td><td>Left ventricular noncompaction</td></tr><tr><td>54272</td><td>Hepatocellular adenoma</td></tr><tr><td>54368</td><td>Sarcocystosis</td></tr><tr><td>54370</td><td>Primary membranoproliferative glomerulonephritis</td></tr><tr><td>54595</td><td>Craniopharyngioma</td></tr><tr><td>55595</td><td>TNP03-related limb-girdle muscular dystrophy D2</td></tr><tr><td>55596</td><td>HNRNPDL-related limb-girdle muscular dystrophy D3</td></tr><tr><td>55654</td><td>Hypotrichosis simplex</td></tr><tr><td>55655</td><td>Pneumococcal meningitis</td></tr><tr><td>55880</td><td>Chondrosarcoma</td></tr><tr><td>55881</td><td>Adamantinoma</td></tr><tr><td>56304</td><td>Atelosteogenesis type II</td></tr><tr><td>56305</td><td>Atelosteogenesis type III</td></tr><tr><td>56425</td><td>Cold agglutinin disease</td></tr><tr><td>57145</td><td>SUNCT syndrome</td></tr><tr><td>57196</td><td>Medial condensing osteitis of the clavicle</td></tr><tr><td>57777</td><td>Cirrhotic cardiomyopathy</td></tr><tr><td>57782</td><td>Mazabraud syndrome</td></tr><tr><td>58017</td><td>Classic hairy cell leukemia</td></tr><tr><td>58040</td><td>Osteoblastoma</td></tr><tr><td>59135</td><td>Laing early-onset distal myopathy</td></tr><tr><td>59181</td><td>Sorsby pseudoinflammatory fundus dystrophy</td></tr><tr><td>59298</td><td>Schilder disease</td></tr><tr><td>59303</td><td>Neonatal ichthyosis-sclerosing cholangitis syndrome</td></tr><tr><td>59306</td><td>McLeod neuroacanthocytosis syndrome</td></tr><tr><td>59315</td><td>Rhombencephalosynapsis</td></tr><tr><td>60014</td><td>Argyria</td></tr><tr><td>60015</td><td>Enlarged parietal foramina</td></tr><tr><td>60025</td><td>Pulmonary alveolar microlithiasis</td></tr><tr><td>60026</td><td>Pulmonary nodular lymphoid hyperplasia</td></tr><tr><td>60030</td><td>Loeys-Dietz syndrome</td></tr><tr><td>60032</td><td>Recurrent respiratory papillomatosis</td></tr><tr><td>60033</td><td>Idiopathic bronchiectasis</td></tr><tr><td>60039</td><td>Pudendal nerve entrapment syndrome</td></tr><tr><td>60040</td><td>Megalencephaly-capillary malformation-polymicrogyria syndrome</td></tr><tr><td>60041</td><td>Congenital heart block</td></tr><tr><td>63259</td><td>Iniencephaly</td></tr><tr><td>63260</td><td>Craniorachischisis</td></tr><tr><td>63269</td><td>Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis</td></tr><tr><td>63273</td><td>Distal myopathy with posterior leg and anterior hand involvement</td></tr><tr><td>63275</td><td>Pemphigoid gestationis</td></tr><tr><td>63442</td><td>Angel-shaped phalango-epiphyseal dysplasia</td></tr><tr><td>63446</td><td>Acrocapitofemoral dysplasia</td></tr><tr><td>63455</td><td>Paraneoplastic pemphigus</td></tr><tr><td>63862</td><td>Schisis association</td></tr><tr><td>63999</td><td>IgG4-related mediastinitis</td></tr><tr><td>64280</td><td>Childhood absence epilepsy</td></tr><tr><td>64542</td><td>Acrofacial dysostosis, Kennedy-Teebi type</td></tr><tr><td>64545</td><td>Benign idiopathic neonatal seizures</td></tr><tr><td>64686</td><td>Tolosa-Hunt syndrome</td></tr><tr><td>64692</td><td>Bartonella bacilliformis infection</td></tr><tr><td>64694</td><td>Trench fever</td></tr><tr><td>64720</td><td>Leiomyosarcoma</td></tr><tr><td>64722</td><td>Granulomatous mastitis</td></tr><tr><td>64734</td><td>Iridocorneal endothelial syndrome</td></tr><tr><td>64739</td><td>Ovarian hyperstimulation syndrome</td></tr><tr><td>64741</td><td>Pulmonary blastoma</td></tr><tr><td>64742</td><td>Pleuropulmonary blastoma</td></tr><tr><td>64743</td><td>Hepatoportal sclerosis</td></tr><tr><td>64744</td><td>IgG4-related thyroid disease</td></tr><tr><td>64745</td><td>Pruritic urticarial papules and plaques of pregnancy</td></tr><tr><td>64748</td><td>Dejerine-Sottas syndrome</td></tr><tr><td>64751</td><td>Hereditary motor and sensory neuropathy type 5</td></tr><tr><td>64752</td><td>Hereditary sensory and autonomic neuropathy type 5</td></tr><tr><td>64753</td><td>Spinocerebellar ataxia with axonal neuropathy type 2</td></tr><tr><td>64754</td><td>Nevus comedonicus syndrome</td></tr><tr><td>64755</td><td>Becker nevus syndrome</td></tr><tr><td>65282</td><td>Carvajal syndrome</td></tr><tr><td>65283</td><td>Timothy syndrome</td></tr><tr><td>65284</td><td>Biotin-thiamine-responsive basal ganglia disease</td></tr><tr><td>65285</td><td>Lhermitte-Duclos disease</td></tr><tr><td>65286</td><td>3q29 microdeletion syndrome</td></tr><tr><td>65287</td><td>Beta-ureidopropionase deficiency</td></tr><tr><td>65288</td><td>Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome</td></tr><tr><td>65681</td><td>Vaginal atresia</td></tr><tr><td>65682</td><td>Benign recurrent intrahepatic cholestasis</td></tr><tr><td>65683</td><td>Isolated focal cortical dysplasia</td></tr><tr><td>65684</td><td>Monomelic amyotrophy</td></tr><tr><td>65720</td><td>Arthrogryposis-severe scoliosis syndrome</td></tr><tr><td>65743</td><td>Autosomal dominant multiple pterygium syndrome</td></tr><tr><td>65748</td><td>Multiple self-healing squamous epithelioma</td></tr><tr><td>65759</td><td>Carpenter syndrome</td></tr><tr><td>66518</td><td>Short fifth metacarpals-insulin resistance syndrome</td></tr><tr><td>66529</td><td>Tako-Tsubo cardiomyopathy</td></tr><tr><td>66624</td><td>PANDAS</td></tr><tr><td>66625</td><td>Cerebrooculonasal syndrome</td></tr><tr><td>66627</td><td>Tenosynovial giant cell tumor</td></tr><tr><td>66628</td><td>Obesity due to congenital leptin deficiency</td></tr><tr><td>66629</td><td>Goldberg-Shprintzen megacolon syndrome</td></tr><tr><td>66630</td><td>Congenital pseudoarthrosis of the clavicle</td></tr><tr><td>66631</td><td>CEDNIK syndrome</td></tr><tr><td>66633</td><td>Sensorineural hearing loss-early graying-essential tremor syndrome</td></tr><tr><td>66634</td><td>Dilated cardiomyopathy with ataxia</td></tr><tr><td>66637</td><td>Diaphanospondylodysostosis</td></tr><tr><td>66661</td><td>Mast cell sarcoma</td></tr><tr><td>66662</td><td>Extracutaneous mastocytoma</td></tr><tr><td>67036</td><td>Autosomal dominant optic atrophy and cataract</td></tr><tr><td>67038</td><td>B-cell chronic lymphocytic leukemia</td></tr><tr><td>67039</td><td>Segmental odontomaxillary dysplasia</td></tr><tr><td>67041</td><td>Hyaluronidase deficiency</td></tr><tr><td>67042</td><td>Late-onset retinal degeneration</td></tr><tr><td>67043</td><td>Amoebic keratitis</td></tr><tr><td>67044</td><td>Thrombocytopenia with congenital dyserythropoietic anemia</td></tr><tr><td>67045</td><td>X-linked intellectual disability with isolated growth hormone deficiency</td></tr><tr><td>67046</td><td>3-methylglutaconic aciduria type 1</td></tr><tr><td>67047</td><td>3-methylglutaconic aciduria type 3</td></tr><tr><td>67048</td><td>3-methylglutaconic aciduria type 4</td></tr><tr><td>69061</td><td>Idiopathic steroid-sensitive nephrotic syndrome</td></tr><tr><td>69063</td><td>Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization</td></tr><tr><td>69076</td><td>Familial renal glucosuria</td></tr><tr><td>69077</td><td>Rhabdoid tumor</td></tr><tr><td>69078</td><td>Liposarcoma</td></tr><tr><td>69082</td><td>Odonto-tricho-ungual-digito-palmar syndrome</td></tr><tr><td>69083</td><td>Ectodermal dysplasia with natal teeth, Turnpenny type</td></tr><tr><td>69084</td><td>Pure hair and nail ectodermal dysplasia</td></tr><tr><td>69085</td><td>Limb-mammary syndrome</td></tr><tr><td>69087</td><td>Naegeli-Franceschetti-Jadassohn syndrome</td></tr><tr><td>69088</td><td>Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome</td></tr><tr><td>69125</td><td>Anonychia with flexural pigmentation</td></tr><tr><td>69126</td><td>PAPA syndrome</td></tr><tr><td>69663</td><td>Low phospholipid-associated cholelithiasis</td></tr><tr><td>69665</td><td>Intrahepatic cholestasis of pregnancy</td></tr><tr><td>69723</td><td>Tyrosinemia type 3</td></tr><tr><td>69735</td><td>Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome</td></tr><tr><td>69736</td><td>Bilateral acute depigmentation of the iris</td></tr><tr><td>69737</td><td>Bosley-Salih-Alorainy syndrome</td></tr><tr><td>69739</td><td>Athabaskan brainstem dysgenesis syndrome</td></tr><tr><td>69744</td><td>Circumscribed palmoplantar hypokeratosis</td></tr><tr><td>69745</td><td>Warty dyskeratoma</td></tr><tr><td>70472</td><td>Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type</td></tr><tr><td>70475</td><td>Radiation proctitis</td></tr><tr><td>70476</td><td>Vernal keratoconjunctivitis</td></tr><tr><td>70567</td><td>Cholangiocarcinoma</td></tr><tr><td>70568</td><td>Post-transplant lymphoproliferative disease</td></tr><tr><td>70573</td><td>Small cell lung cancer</td></tr><tr><td>70578</td><td>Adult acute respiratory distress syndrome</td></tr><tr><td>70587</td><td>Infant acute respiratory distress syndrome</td></tr><tr><td>70588</td><td>Meconium aspiration syndrome</td></tr><tr><td>70589</td><td>Bronchopulmonary dysplasia</td></tr><tr><td>70590</td><td>Infantile apnea</td></tr><tr><td>70591</td><td>Chronic thromboembolic pulmonary hypertension</td></tr><tr><td>70592</td><td>Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency</td></tr><tr><td>70593</td><td>Immunodeficiency due to selective anti-polysaccharide antibody deficiency</td></tr><tr><td>70594</td><td>Dopa-responsive dystonia due to sepiapterin reductase deficiency</td></tr><tr><td>70595</td><td>Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome</td></tr><tr><td>70596</td><td>Congenital Epstein-Barr virus infection</td></tr><tr><td>71211</td><td>Neuromyelitis optica spectrum disorder</td></tr><tr><td>71212</td><td>Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency</td></tr><tr><td>71213</td><td>Retinal capillary malformation</td></tr><tr><td>71267</td><td>Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome</td></tr><tr><td>71271</td><td>Split hand-split foot-deafness syndrome</td></tr><tr><td>71272</td><td>Sandifer syndrome</td></tr><tr><td>71273</td><td>Renal nutcracker syndrome</td></tr><tr><td>71274</td><td>Disseminated peritoneal leiomyomatosis</td></tr><tr><td>71275</td><td>Rh deficiency syndrome</td></tr><tr><td>71276</td><td>Silent sinus syndrome</td></tr><tr><td>71277</td><td>Classic glucose transporter type 1 deficiency syndrome</td></tr><tr><td>71278</td><td>Congenital brain dysgenesis due to glutamine synthetase deficiency</td></tr><tr><td>71279</td><td>CANOMAD syndrome</td></tr><tr><td>71289</td><td>Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome</td></tr><tr><td>71290</td><td>Familial platelet disorder with associated myeloid malignancy</td></tr><tr><td>71493</td><td>Familial thrombocytosis</td></tr><tr><td>71505</td><td>Cancer-associated retinopathy</td></tr><tr><td>71517</td><td>Rapid-onset dystonia-parkinsonism</td></tr><tr><td>71518</td><td>Benign paroxysmal torticollis of infancy</td></tr><tr><td>71519</td><td>Psychogenic movement disorders</td></tr><tr><td>71526</td><td>Obesity due to pro-opiomelanocortin deficiency</td></tr><tr><td>71528</td><td>Obesity due to prohormone convertase I deficiency</td></tr><tr><td>71529</td><td>Obesity due to melanocortin 4 receptor deficiency</td></tr><tr><td>73223</td><td>Global developmental delay-osteopenia-ectodermal defect syndrome</td></tr><tr><td>73224</td><td>Kidney tubulopathy-dilated cardiomyopathy syndrome</td></tr><tr><td>73229</td><td>HANAC syndrome</td></tr><tr><td>73230</td><td>Ossification anomalies-psychomotor developmental delay syndrome</td></tr><tr><td>73245</td><td>Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome</td></tr><tr><td>73246</td><td>Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome</td></tr><tr><td>73256</td><td>Central neurocytoma</td></tr><tr><td>73260</td><td>Paracoccidioidomycosis</td></tr><tr><td>73263</td><td>Zygomycosis</td></tr><tr><td>73267</td><td>Non-24-hour sleep-wake syndrome</td></tr><tr><td>73271</td><td>Bleeding diathesis due to a collagen receptor defect</td></tr><tr><td>73272</td><td>Growth delay due to insulin-like growth factor type 1 deficiency</td></tr><tr><td>73273</td><td>Growth delay due to insulin-like growth factor I resistance</td></tr><tr><td>73423</td><td>Acute ackee fruit intoxication</td></tr><tr><td>75233</td><td>Wolman disease</td></tr><tr><td>75234</td><td>Cholesteryl ester storage disease</td></tr><tr><td>75249</td><td>Familial isolated restrictive cardiomyopathy</td></tr><tr><td>75325</td><td>Osteosclerosis-ichthyosis-premature ovarian failure syndrome</td></tr><tr><td>75326</td><td>Familial isolated retinal arteriolar tortuosity</td></tr><tr><td>75327</td><td>North Carolina macular dystrophy</td></tr><tr><td>75373</td><td>Progressive bifocal chorioretinal atrophy</td></tr><tr><td>75374</td><td>Bradyopsia</td></tr><tr><td>75376</td><td>Familial drusen</td></tr><tr><td>75377</td><td>Central areolar choroidal dystrophy</td></tr><tr><td>75378</td><td>Oligocone trichromacy</td></tr><tr><td>75381</td><td>Cystoid macular dystrophy</td></tr><tr><td>75382</td><td>Oguchi disease</td></tr><tr><td>75389</td><td>Brain malformation-congenital heart disease-postaxial polydactyly syndrome</td></tr><tr><td>75391</td><td>Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency</td></tr><tr><td>75392</td><td>Periodontal Ehlers-Danlos syndrome</td></tr><tr><td>75496</td><td>B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome</td></tr><tr><td>75497</td><td>X-linked Ehlers-Danlos syndrome</td></tr><tr><td>75508</td><td>Angioosteohypotrophic syndrome</td></tr><tr><td>75563</td><td>X-linked sideroblastic anemia</td></tr><tr><td>75564</td><td>Acquired idiopathic sideroblastic anemia</td></tr><tr><td>75565</td><td>Tropical endomyocardial fibrosis</td></tr><tr><td>75566</td><td>Loeffler endocarditis</td></tr><tr><td>75567</td><td>Primary progressive freezing gait</td></tr><tr><td>75840</td><td>Ullrich congenital muscular dystrophy</td></tr><tr><td>75857</td><td>6q terminal deletion syndrome</td></tr><tr><td>75858</td><td>MORM syndrome</td></tr><tr><td>77258</td><td>Trichorhinophalangeal syndrome type 1</td></tr><tr><td>77259</td><td>Gaucher disease type 1</td></tr><tr><td>77260</td><td>Gaucher disease type 2</td></tr><tr><td>77261</td><td>Gaucher disease type 3</td></tr><tr><td>77292</td><td>Infantile neurovisceral acid sphingomyelinase deficiency</td></tr><tr><td>77293</td><td>Chronic visceral acid sphingomyelinase deficiency</td></tr><tr><td>77295</td><td>Odontoleukodystrophy</td></tr><tr><td>77296</td><td>Morgagni-Stewart-Morel syndrome</td></tr><tr><td>77297</td><td>Majeed syndrome</td></tr><tr><td>77298</td><td>Anophthalmia/microphthalmia-esophageal atresia syndrome</td></tr><tr><td>77299</td><td>Microphthalmia-brain atrophy syndrome</td></tr><tr><td>77300</td><td>Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome</td></tr><tr><td>77301</td><td>Monosomy 9q22.3</td></tr><tr><td>79076</td><td>Juvenile polyposis of infancy</td></tr><tr><td>79078</td><td>IgG4-related dacryoadenitis and sialadenitis</td></tr><tr><td>79083</td><td>PPARG-related familial partial lipodystrophy</td></tr><tr><td>79084</td><td>Familial partial lipodystrophy, Köbberling type</td></tr><tr><td>79085</td><td>AKT2-related familial partial lipodystrophy</td></tr><tr><td>79086</td><td>Acquired generalized lipodystrophy</td></tr><tr><td>79087</td><td>Acquired partial lipodystrophy</td></tr><tr><td>79091</td><td>Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome</td></tr><tr><td>79093</td><td>Foix-Alajouanine syndrome</td></tr><tr><td>79094</td><td>Grange syndrome</td></tr><tr><td>79095</td><td>Congenital bile acid synthesis defect type 4</td></tr><tr><td>79096</td><td>Pyridoxal phosphate-responsive seizures</td></tr><tr><td>79097</td><td>Folinic acid-responsive seizures</td></tr><tr><td>79098</td><td>Sympathetic ophthalmia</td></tr><tr><td>79099</td><td>Interstitial granulomatous dermatitis with arthritis</td></tr><tr><td>79100</td><td>Atrophoderma vermiculata</td></tr><tr><td>79101</td><td>Hyperprolinemia type 2</td></tr><tr><td>79102</td><td>Thyrotoxic periodic paralysis</td></tr><tr><td>79105</td><td>Myxofibrosarcoma</td></tr><tr><td>79106</td><td>Eiken syndrome</td></tr><tr><td>79107</td><td>Developmental malformations-deafness-dystonia syndrome</td></tr><tr><td>79113</td><td>Mandibulofacial dysostosis-microcephaly syndrome</td></tr><tr><td>79118</td><td>Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome</td></tr><tr><td>79124</td><td>Hepatic veno-occlusive disease-immunodeficiency syndrome</td></tr><tr><td>79126</td><td>Acute interstitial pneumonia</td></tr><tr><td>79127</td><td>Respiratory bronchiolitis-interstitial lung disease syndrome</td></tr><tr><td>79128</td><td>Lymphoid interstitial pneumonia</td></tr><tr><td>79129</td><td>Trichodysplasia-amelogenesis imperfecta syndrome</td></tr><tr><td>79133</td><td>Focal facial dermal dysplasia type I</td></tr><tr><td>79134</td><td>DEND syndrome</td></tr><tr><td>79135</td><td>Episodic ataxia type 3</td></tr><tr><td>79136</td><td>Episodic ataxia type 4</td></tr><tr><td>79137</td><td>Generalized epilepsy-paroxysmal dyskinesia syndrome</td></tr><tr><td>79138</td><td>Bickerstaff brainstem encephalitis</td></tr><tr><td>79139</td><td>Japanese encephalitis</td></tr><tr><td>79140</td><td>Cutaneous neuroendocrine carcinoma</td></tr><tr><td>79141</td><td>Hereditary painful callosities</td></tr><tr><td>79143</td><td>Isolated congenital anonychia</td></tr><tr><td>79144</td><td>Isolated congenital onychodysplasia</td></tr><tr><td>79145</td><td>Dowling-Degos disease</td></tr><tr><td>79146</td><td>Familial progressive hyperpigmentation</td></tr><tr><td>79147</td><td>Familial reactive perforating collagenosis</td></tr><tr><td>79148</td><td>Elastosis perforans serpiginosa</td></tr><tr><td>79149</td><td>Dermochondrocorneal dystrophy</td></tr><tr><td>79150</td><td>Linear and whorled nevoid hypermelanosis</td></tr><tr><td>79151</td><td>Acrokeratosis verruciformis of Hopf</td></tr><tr><td>79152</td><td>Disseminated superficial actinic porokeratosis</td></tr><tr><td>79153</td><td>Idiopathic trachyonychia</td></tr><tr><td>79154</td><td>2-aminoadipic 2-oxoadipic aciduria</td></tr><tr><td>79155</td><td>Hydroxykynureninuria</td></tr><tr><td>79156</td><td>Seizures-intellectual disability due to hydroxylysinuria syndrome</td></tr><tr><td>79157</td><td>2-methylbutyryl-CoA dehydrogenase deficiency</td></tr><tr><td>79159</td><td>Isobutyryl-CoA dehydrogenase deficiency</td></tr><tr><td>79230</td><td>HJV or HAMP-related hemochromatosis</td></tr><tr><td>79233</td><td>Hypoxanthine guanine phosphoribosyltransferase partial deficiency</td></tr><tr><td>79234</td><td>Crigler-Najjar syndrome type 1</td></tr><tr><td>79235</td><td>Crigler-Najjar syndrome type 2</td></tr><tr><td>79237</td><td>Galactokinase deficiency</td></tr><tr><td>79238</td><td>Galactose epimerase deficiency</td></tr><tr><td>79239</td><td>Classic galactosemia</td></tr><tr><td>79240</td><td>Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency</td></tr><tr><td>79241</td><td>Biotinidase deficiency</td></tr><tr><td>79242</td><td>Holocarboxylase synthetase deficiency</td></tr><tr><td>79243</td><td>Pyruvate dehydrogenase E1-alpha deficiency</td></tr><tr><td>79244</td><td>Pyruvate dehydrogenase E2 deficiency</td></tr><tr><td>79246</td><td>Pyruvate dehydrogenase phosphatase deficiency</td></tr><tr><td>79253</td><td>Mild phenylketonuria</td></tr><tr><td>79254</td><td>Classic phenylketonuria</td></tr><tr><td>79255</td><td>GM1 gangliosidosis type 1</td></tr><tr><td>79256</td><td>GM1 gangliosidosis type 2</td></tr><tr><td>79257</td><td>GM1 gangliosidosis type 3</td></tr><tr><td>79258</td><td>Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia</td></tr><tr><td>79259</td><td>Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib</td></tr><tr><td>79269</td><td>Sanfilippo syndrome type A</td></tr><tr><td>79270</td><td>Sanfilippo syndrome type B</td></tr><tr><td>79271</td><td>Sanfilippo syndrome type C</td></tr><tr><td>79272</td><td>Sanfilippo syndrome type D</td></tr><tr><td>79273</td><td>Hereditary coproporphyria</td></tr><tr><td>79276</td><td>Acute intermittent porphyria</td></tr><tr><td>79277</td><td>Congenital erythropoietic porphyria</td></tr><tr><td>79278</td><td>Autosomal erythropoietic protoporphyria</td></tr><tr><td>79279</td><td>Alpha-N-acetylgalactosaminidase deficiency type 1</td></tr><tr><td>79280</td><td>Alpha-N-acetylgalactosaminidase deficiency type 2</td></tr><tr><td>79281</td><td>Alpha-N-acetylgalactosaminidase deficiency type 3</td></tr><tr><td>79282</td><td>Methylmalonic acidemia with homocystinuria, type cblC</td></tr><tr><td>79283</td><td>Methylmalonic acidemia with homocystinuria, type cblD</td></tr><tr><td>79284</td><td>Methylmalonic acidemia with homocystinuria type cblF</td></tr><tr><td>79292</td><td>Fish-eye disease</td></tr><tr><td>79293</td><td>Familial LCAT deficiency</td></tr><tr><td>79299</td><td>Congenital glucokinase-related hyperinsulinism</td></tr><tr><td>79301</td><td>Congenital bile acid synthesis defect type 1</td></tr><tr><td>79302</td><td>Congenital bile acid synthesis defect type 3</td></tr><tr><td>79303</td><td>Congenital bile acid synthesis defect type 2</td></tr><tr><td>79304</td><td>Progressive familial intrahepatic cholestasis type 2</td></tr><tr><td>79305</td><td>Progressive familial intrahepatic cholestasis type 3</td></tr><tr><td>79306</td><td>Progressive familial intrahepatic cholestasis type 1</td></tr><tr><td>79310</td><td>Vitamin B12-responsive methylmalonic acidemia type cblA</td></tr><tr><td>79311</td><td>Vitamin B12-responsive methylmalonic acidemia type cblB</td></tr><tr><td>79312</td><td>Vitamin B12-unresponsive methylmalonic acidemia type mut-</td></tr><tr><td>79314</td><td>L-2-hydroxyglutaric aciduria</td></tr><tr><td>79315</td><td>D-2-hydroxyglutaric aciduria</td></tr><tr><td>79318</td><td>PMM2-CDG</td></tr><tr><td>79319</td><td>MPI-CDG</td></tr><tr><td>79320</td><td>ALG6-CDG</td></tr><tr><td>79321</td><td>ALG3-CDG</td></tr><tr><td>79322</td><td>DPM1-CDG</td></tr><tr><td>79323</td><td>MPDU1-CDG</td></tr><tr><td>79324</td><td>ALG12-CDG</td></tr><tr><td>79325</td><td>ALG8-CDG</td></tr><tr><td>79326</td><td>ALG2-CDG</td></tr><tr><td>79327</td><td>ALG1-CDG</td></tr><tr><td>79328</td><td>ALG9-CDG</td></tr><tr><td>79329</td><td>MGAT2-CDG</td></tr><tr><td>79330</td><td>MOGS-CDG</td></tr><tr><td>79332</td><td>B4GALT1-CDG</td></tr><tr><td>79333</td><td>COG7-CDG</td></tr><tr><td>79345</td><td>Brachytelephalangic chondrodysplasia punctata</td></tr><tr><td>79346</td><td>Chondrodysplasia punctata, tibial-metacarpal type</td></tr><tr><td>79347</td><td>Chondrodysplasia punctata, Toriello type</td></tr><tr><td>79350</td><td>3-phosphoserine phosphatase deficiency, infantile/juvenile form</td></tr><tr><td>79351</td><td>3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form</td></tr><tr><td>79394</td><td>Congenital ichthyosiform erythroderma</td></tr><tr><td>79395</td><td>Keratoderma hereditarium mutilans with ichthyosis</td></tr><tr><td>79396</td><td>Autosomal dominant generalized epidermolysis bullosa simplex, severe form</td></tr><tr><td>79397</td><td>Epidermolysis bullosa simplex with mottled pigmentation</td></tr><tr><td>79399</td><td>Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form</td></tr><tr><td>79400</td><td>Localized epidermolysis bullosa simplex</td></tr><tr><td>79401</td><td>PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement</td></tr><tr><td>79402</td><td>Intermediate generalized junctional epidermolysis bullosa</td></tr><tr><td>79403</td><td>Junctional epidermolysis bullosa with pyloric atresia</td></tr><tr><td>79404</td><td>Severe generalized junctional epidermolysis bullosa</td></tr><tr><td>79405</td><td>Junctional epidermolysis bullosa inversa</td></tr><tr><td>79406</td><td>Late-onset junctional epidermolysis bullosa</td></tr><tr><td>79408</td><td>Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form</td></tr><tr><td>79409</td><td>Recessive dystrophic epidermolysis bullosa inversa</td></tr><tr><td>79410</td><td>Localized dystrophic epidermolysis bullosa, pretibial form</td></tr><tr><td>79411</td><td>Self-improving dystrophic epidermolysis bullosa</td></tr><tr><td>79414</td><td>Woolly hair nevus</td></tr><tr><td>79430</td><td>Hermansky-Pudlak syndrome</td></tr><tr><td>79431</td><td>Oculocutaneous albinism type 1A</td></tr><tr><td>79432</td><td>Oculocutaneous albinism type 2</td></tr><tr><td>79433</td><td>Oculocutaneous albinism type 3</td></tr><tr><td>79434</td><td>Oculocutaneous albinism type 1B</td></tr><tr><td>79435</td><td>Oculocutaneous albinism type 4</td></tr><tr><td>79443</td><td>Pseudohypoparathyroidism type 1A</td></tr><tr><td>79444</td><td>Pseudohypoparathyroidism type 1C</td></tr><tr><td>79445</td><td>Pseudopseudohypoparathyroidism</td></tr><tr><td>79447</td><td>X-linked lethal multiple pterygium syndrome</td></tr><tr><td>79452</td><td>Milroy disease</td></tr><tr><td>79455</td><td>Cutaneous mastocytoma</td></tr><tr><td>79456</td><td>Diffuse cutaneous mastocytosis</td></tr><tr><td>79457</td><td>Maculopapular cutaneous mastocytosis</td></tr><tr><td>79466</td><td>Inflammatory linear verrucous epidermal nevus</td></tr><tr><td>79467</td><td>Verrucous nevus</td></tr><tr><td>79468</td><td>Acanthokeratolytic verrucous nevus</td></tr><tr><td>79473</td><td>Variegate porphyria</td></tr><tr><td>79474</td><td>Atypical Werner syndrome</td></tr><tr><td>79476</td><td>Griscelli syndrome type 1</td></tr><tr><td>79477</td><td>Griscelli syndrome type 2</td></tr><tr><td>79478</td><td>Griscelli syndrome type 3</td></tr><tr><td>79479</td><td>Pemphigus vegetans</td></tr><tr><td>79480</td><td>Pemphigus erythematosus</td></tr><tr><td>79481</td><td>Pemphigus foliaceus</td></tr><tr><td>79483</td><td>Phakomatosis cesioflammea</td></tr><tr><td>79484</td><td>Phakomatosis cesiomarmorata</td></tr><tr><td>79485</td><td>Phakomatosis spilorosea</td></tr><tr><td>79489</td><td>Macrocystic lymphatic malformation</td></tr><tr><td>79490</td><td>Microcystic lymphatic malformation</td></tr><tr><td>79492</td><td>Pili gemini</td></tr><tr><td>79493</td><td>Brooke-Spiegler syndrome</td></tr><tr><td>79495</td><td>X-linked congenital generalized hypertrichosis</td></tr><tr><td>79499</td><td>Autosomal dominant deafness-onychodystrophy syndrome</td></tr><tr><td>79500</td><td>DOORS syndrome</td></tr><tr><td>79501</td><td>Punctate palmoplantar keratoderma type 1</td></tr><tr><td>79502</td><td>Punctate palmoplantar keratoderma type 2</td></tr><tr><td>79503</td><td>Ichthyosis hystrix of Curth-Macklin</td></tr><tr><td>79506</td><td>Cholesterol-ester transfer protein deficiency</td></tr><tr><td>79507</td><td>Hypotonia-failure to thrive-microcephaly syndrome</td></tr><tr><td>79643</td><td>Autosomal recessive hyperinsulinism due to SUR1 deficiency</td></tr><tr><td>79644</td><td>Autosomal recessive hyperinsulinism due to Kir6.2 deficiency</td></tr><tr><td>79651</td><td>Mild hyperphenylalaninemia</td></tr><tr><td>79665</td><td>Gardner syndrome</td></tr><tr><td>83311</td><td>Rocky Mountain spotted fever</td></tr><tr><td>83312</td><td>Rickettsialpox</td></tr><tr><td>83313</td><td>Boutonneuse fever</td></tr><tr><td>83314</td><td>Epidemic typhus</td></tr><tr><td>83315</td><td>Murine typhus</td></tr><tr><td>83316</td><td>Pseudotyphus of California</td></tr><tr><td>83317</td><td>Scrub typhus</td></tr><tr><td>83330</td><td>Proximal spinal muscular atrophy type 1</td></tr><tr><td>83418</td><td>Proximal spinal muscular atrophy type 2</td></tr><tr><td>83419</td><td>Proximal spinal muscular atrophy type 3</td></tr><tr><td>83420</td><td>Proximal spinal muscular atrophy type 4</td></tr><tr><td>83450</td><td>Regional odontodysplasia</td></tr><tr><td>83451</td><td>Florid cemento-osseous dysplasia</td></tr><tr><td>83452</td><td>Complex regional pain syndrome</td></tr><tr><td>83453</td><td>Vulvovaginal gingival syndrome</td></tr><tr><td>83454</td><td>Glomuvenous malformation</td></tr><tr><td>83461</td><td>Congenital primary aphakia</td></tr><tr><td>83463</td><td>Microtia</td></tr><tr><td>83465</td><td>Narcolepsy type 2</td></tr><tr><td>83467</td><td>Morvan syndrome</td></tr><tr><td>83468</td><td>Solitary bone cyst</td></tr><tr><td>83469</td><td>Desmoplastic small round cell tumor</td></tr><tr><td>83471</td><td>T-cell immunodeficiency with thymic aplasia</td></tr><tr><td>83472</td><td>CAMOS syndrome</td></tr><tr><td>83473</td><td>Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome</td></tr><tr><td>83476</td><td>West-Nile encephalitis</td></tr><tr><td>83482</td><td>Mycoplasma encephalitis</td></tr><tr><td>83483</td><td>La Crosse encephalitis</td></tr><tr><td>83484</td><td>St. Louis encephalitis</td></tr><tr><td>83593</td><td>Western equine encephalitis</td></tr><tr><td>83594</td><td>Eastern equine encephalitis</td></tr><tr><td>83595</td><td>Colorado tick fever</td></tr><tr><td>83597</td><td>Acute disseminated encephalomyelitis</td></tr><tr><td>83600</td><td>Encephalitis lethargica</td></tr><tr><td>83601</td><td>Steroid-responsive encephalopathy associated with autoimmune thyroiditis</td></tr><tr><td>83616</td><td>Rubella panencephalitis</td></tr><tr><td>83617</td><td>Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome</td></tr><tr><td>83619</td><td>Macrostomia-preauricular tags-external ophthalmoplegia syndrome</td></tr><tr><td>83620</td><td>Enteric anendocrinosis</td></tr><tr><td>83628</td><td>LUMBAR syndrome</td></tr><tr><td>83629</td><td>Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome</td></tr><tr><td>83639</td><td>Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency</td></tr><tr><td>83642</td><td>Microcytic anemia with liver iron overload</td></tr><tr><td>84064</td><td>Syndromic diarrhea</td></tr><tr><td>84065</td><td>Idiopathic malabsorption due to bile acid synthesis defects</td></tr><tr><td>84081</td><td>Senior-Boichis syndrome</td></tr><tr><td>84085</td><td>Hinman syndrome</td></tr><tr><td>84087</td><td>Collagen type III glomerulopathy</td></tr><tr><td>84090</td><td>Fibronectin glomerulopathy</td></tr><tr><td>84093</td><td>Hereditary thermosensitive neuropathy</td></tr><tr><td>84132</td><td>Desmin-related myopathy with Mallory body-like inclusions</td></tr><tr><td>84142</td><td>Isaacs syndrome</td></tr><tr><td>85110</td><td>Familial encephalopathy with neuroserpin inclusion bodies</td></tr><tr><td>85112</td><td>Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome</td></tr><tr><td>85128</td><td>Bothnia retinal dystrophy</td></tr><tr><td>85136</td><td>Cystic leukoencephalopathy without megalencephaly</td></tr><tr><td>85138</td><td>Addison disease</td></tr><tr><td>85146</td><td>Neurogenic scapuloperoneal syndrome, Kaeser type</td></tr><tr><td>85162</td><td>Facial onset sensory and motor neuronopathy</td></tr><tr><td>85163</td><td>Hypomyelination-congenital cataract syndrome</td></tr><tr><td>85164</td><td>Camptodactyly-tall stature-scoliosis-hearing loss syndrome</td></tr><tr><td>85165</td><td>Severe achondroplasia-developmental delay-acanthosis nigricans syndrome</td></tr><tr><td>85166</td><td>Platyspondylic dysplasia, Torrance type</td></tr><tr><td>85167</td><td>Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome</td></tr><tr><td>85168</td><td>Craniofacial conodysplasia</td></tr><tr><td>85169</td><td>Familial digital arthropathy-brachydactyly</td></tr><tr><td>85170</td><td>Mesomelic dysplasia, Savarirayan type</td></tr><tr><td>85172</td><td>Microcephalic osteodysplastic dysplasia, Saul-Wilson type</td></tr><tr><td>85173</td><td>IMAGe syndrome</td></tr><tr><td>85174</td><td>Pseudodiastrophic dysplasia</td></tr><tr><td>85175</td><td>Astley-Kendall dysplasia</td></tr><tr><td>85179</td><td>Infantile osteopetrosis with neuroaxonal dysplasia</td></tr><tr><td>85182</td><td>Diaphyseal medullary stenosis-bone malignancy syndrome</td></tr><tr><td>85184</td><td>Craniometadiaphyseal dysplasia, wormian bone type</td></tr><tr><td>85186</td><td>Endosteal sclerosis-cerebellar hypoplasia syndrome</td></tr><tr><td>85188</td><td>Metaphyseal dysplasia, Braun-Tinschert type</td></tr><tr><td>85191</td><td>Singleton-Merten dysplasia</td></tr><tr><td>85192</td><td>Calvarial doughnut lesions-bone fragility syndrome</td></tr><tr><td>85193</td><td>Idiopathic juvenile osteoporosis</td></tr><tr><td>85194</td><td>Spondylo-ocular syndrome</td></tr><tr><td>85195</td><td>Familial expansile osteolysis</td></tr><tr><td>85197</td><td>Genochondromatosis type 1</td></tr><tr><td>85198</td><td>Dysspondyloenchondromatosis</td></tr><tr><td>85199</td><td>Craniosynostosis-anal anomalies-porokeratosis syndrome</td></tr><tr><td>85201</td><td>Genitopatellar syndrome</td></tr><tr><td>85202</td><td>Keutel syndrome</td></tr><tr><td>85203</td><td>Acropectoral syndrome</td></tr><tr><td>85212</td><td>Fetal Gaucher disease</td></tr><tr><td>85273</td><td>X-linked intellectual disability, Abidi type</td></tr><tr><td>85274</td><td>Syndromic X-linked intellectual disability 7</td></tr><tr><td>85275</td><td>Microphthalmia-ankyloblepharon-intellectual disability syndrome</td></tr><tr><td>85276</td><td>X-linked intellectual disability, Armfield type</td></tr><tr><td>85277</td><td>X-linked intellectual disability, Cantagrel type</td></tr><tr><td>85278</td><td>Christianson syndrome</td></tr><tr><td>85279</td><td>KDM5C-related syndromic X-linked intellectual disability</td></tr><tr><td>85280</td><td>X-linked intellectual disability-cubitus valgus-dysmorphism syndrome</td></tr><tr><td>85282</td><td>MEHMO syndrome</td></tr><tr><td>85283</td><td>X-linked intellectual disability, Miles-Carpenter type</td></tr><tr><td>85284</td><td>BRESEK syndrome</td></tr><tr><td>85285</td><td>X-linked intellectual disability, Schimke type</td></tr><tr><td>85286</td><td>X-linked intellectual disability, Shashi type</td></tr><tr><td>85287</td><td>X-linked intellectual disability, Siderius type</td></tr><tr><td>85288</td><td>X-linked intellectual disability, Stocco Dos Santos type</td></tr><tr><td>85290</td><td>X-linked intellectual disability, Wilson type</td></tr><tr><td>85292</td><td>X-linked spinocerebellar ataxia type 4</td></tr><tr><td>85293</td><td>X-linked intellectual disability, Cabezas type</td></tr><tr><td>85294</td><td>X-linked epilepsy-learning disabilities-behavior disorders syndrome</td></tr><tr><td>85295</td><td>HSD10 disease, atypical type</td></tr><tr><td>85297</td><td>X-linked spinocerebellar ataxia type 3</td></tr><tr><td>85317</td><td>X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome</td></tr><tr><td>85319</td><td>X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome</td></tr><tr><td>85320</td><td>X-linked intellectual disability-macrocephaly-macroorchidism syndrome</td></tr><tr><td>85321</td><td>Deafness-intellectual disability syndrome, Martin-Probst type</td></tr><tr><td>85322</td><td>X-linked intellectual disability, Pai type</td></tr><tr><td>85323</td><td>X-linked intellectual disability, Seemanova type</td></tr><tr><td>85324</td><td>X-linked intellectual disability, Shrimpton type</td></tr><tr><td>85325</td><td>X-linked intellectual disability, Stevenson type</td></tr><tr><td>85326</td><td>X-linked intellectual disability, Stoll type</td></tr><tr><td>85327</td><td>X-linked intellectual disability-acromegaly-hyperactivity syndrome</td></tr><tr><td>85329</td><td>X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome</td></tr><tr><td>85332</td><td>X-linked intellectual disability-retinitis pigmentosa syndrome</td></tr><tr><td>85334</td><td>X-linked neurodegenerative syndrome, Bertini type</td></tr><tr><td>85335</td><td>Fried syndrome</td></tr><tr><td>85336</td><td>X-linked neurodegenerative syndrome, Hamel type</td></tr><tr><td>85338</td><td>X-linked intellectual disability-ataxia-apraxia syndrome</td></tr><tr><td>85408</td><td>Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis</td></tr><tr><td>85410</td><td>Oligoarticular juvenile idiopathic arthritis</td></tr><tr><td>85414</td><td>Systemic-onset juvenile idiopathic arthritis</td></tr><tr><td>85435</td><td>Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis</td></tr><tr><td>85436</td><td>Psoriasis-related juvenile idiopathic arthritis</td></tr><tr><td>85438</td><td>Enthesitis-related juvenile idiopathic arthritis</td></tr><tr><td>85442</td><td>Short stature-pituitary and cerebellar defects-small sella turcica syndrome</td></tr><tr><td>85443</td><td>AL amyloidosis</td></tr><tr><td>85445</td><td>AA amyloidosis</td></tr><tr><td>85446</td><td>Wild type ABeta2M amyloidosis</td></tr><tr><td>85447</td><td>ATTRV30M amyloidosis</td></tr><tr><td>85448</td><td>AGel amyloidosis</td></tr><tr><td>85450</td><td>Hereditary amyloidosis with primary renal involvement</td></tr><tr><td>85451</td><td>ATTRV122I amyloidosis</td></tr><tr><td>85453</td><td>X-linked reticulate pigmentary disorder</td></tr><tr><td>85458</td><td>Cerebral Amyloid Angiopathy</td></tr><tr><td>86309</td><td>DPAGT1-CDG</td></tr><tr><td>86788</td><td>X-linked severe congenital neutropenia</td></tr><tr><td>86789</td><td>Isolated patella aplasia/hypoplasia</td></tr><tr><td>86797</td><td>Atypical lichen myxedematosus</td></tr><tr><td>86812</td><td>POMT1-related limb-girdle muscular dystrophy R11</td></tr><tr><td>86813</td><td>Helicoid peripapillary chorioretinal degeneration</td></tr><tr><td>86814</td><td>Benign adult familial myoclonic epilepsy</td></tr><tr><td>86815</td><td>Aplasia of lacrimal and salivary glands</td></tr><tr><td>86816</td><td>Congenital analbuminemia</td></tr><tr><td>86817</td><td>Hemolytic anemia due to adenylate kinase deficiency</td></tr><tr><td>86818</td><td>Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome</td></tr><tr><td>86819</td><td>Atrichia with papular lesions</td></tr><tr><td>86820</td><td>Familial avascular necrosis of femoral head</td></tr><tr><td>86821</td><td>Lissencephaly type 3-familial fetal akinesia sequence syndrome</td></tr><tr><td>86822</td><td>Lissencephaly type 3-metacarpal bone dysplasia syndrome</td></tr><tr><td>86829</td><td>Chronic neutrophilic leukemia</td></tr><tr><td>86830</td><td>Chronic myeloproliferative disease, unclassifiable</td></tr><tr><td>86834</td><td>Juvenile myelomonocytic leukemia</td></tr><tr><td>86839</td><td>Myelodysplastic neoplasm with increased blasts</td></tr><tr><td>86841</td><td>Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality</td></tr><tr><td>86843</td><td>Acute panmyelosis with myelofibrosis</td></tr><tr><td>86845</td><td>Acute myeloid leukaemia with myelodysplasia-related features</td></tr><tr><td>86849</td><td>Acute basophilic leukemia</td></tr><tr><td>86850</td><td>Myeloid sarcoma</td></tr><tr><td>86852</td><td>B-cell prolymphocytic leukemia</td></tr><tr><td>86854</td><td>Splenic marginal zone lymphoma</td></tr><tr><td>86855</td><td>Plasmacytoma</td></tr><tr><td>86861</td><td>Non-amyloid monoclonal immunoglobulin deposition disease</td></tr><tr><td>86864</td><td>Heavy chain disease</td></tr><tr><td>86867</td><td>Nodal marginal zone B-cell lymphoma</td></tr><tr><td>86869</td><td>Lymphomatoid granulomatosis</td></tr><tr><td>86870</td><td>Blastic plasmacytoid dendritic cell neoplasm</td></tr><tr><td>86871</td><td>T-cell prolymphocytic leukemia</td></tr><tr><td>86872</td><td>T-cell large granular lymphocyte leukemia</td></tr><tr><td>86873</td><td>Aggressive NK-cell leukemia</td></tr><tr><td>86875</td><td>Adult T-cell leukemia/lymphoma</td></tr><tr><td>86879</td><td>Extranodal nasal NK/T cell lymphoma</td></tr><tr><td>86880</td><td>Enteropathy-associated T-cell lymphoma</td></tr><tr><td>86882</td><td>Hepatosplenic T-cell lymphoma</td></tr><tr><td>86884</td><td>Subcutaneous panniculitis-like T-cell lymphoma</td></tr><tr><td>86885</td><td>Primary cutaneous peripheral T-cell lymphoma not otherwise specified</td></tr><tr><td>86886</td><td>Angioimmunoblastic T-cell lymphoma</td></tr><tr><td>86893</td><td>Nodular lymphocyte predominant Hodgkin lymphoma</td></tr><tr><td>86896</td><td>Histiocytic sarcoma</td></tr><tr><td>86897</td><td>Langerhans cell sarcoma</td></tr><tr><td>86900</td><td>Interdigitating dendritic cell sarcoma</td></tr><tr><td>86902</td><td>Follicular dendritic cell sarcoma</td></tr><tr><td>86903</td><td>Dendritic cell sarcoma not otherwise specified</td></tr><tr><td>86904</td><td>Methotrexate-associated lymphoproliferative disorders</td></tr><tr><td>86906</td><td>Hypothalamic hamartomas with gelastic seizures</td></tr><tr><td>86908</td><td>Idiopathic hemiconvulsion-hemiplegia syndrome</td></tr><tr><td>86909</td><td>Myoclonic epilepsy of infancy</td></tr><tr><td>86911</td><td>Epilepsy with myoclonic absences</td></tr><tr><td>86913</td><td>Myoclonic epilepsy in non-progressive encephalopathies</td></tr><tr><td>86914</td><td>Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome</td></tr><tr><td>86915</td><td>Lymphedema-atrial septal defects-facial changes syndrome</td></tr><tr><td>86918</td><td>Diffuse palmoplantar keratoderma-acrocyanosis syndrome</td></tr><tr><td>86919</td><td>Keratosis palmaris et plantaris-clinodactyly syndrome</td></tr><tr><td>86920</td><td>Dermatopathia pigmentosa reticularis</td></tr><tr><td>86923</td><td>Hereditary palmoplantar keratoderma, Gamborg-Nielsen type</td></tr><tr><td>87503</td><td>Mal de Meleda</td></tr><tr><td>87876</td><td>Sialidosis type 2</td></tr><tr><td>87884</td><td>Non-syndromic genetic deafness</td></tr><tr><td>88616</td><td>Autosomal recessive non-syndromic intellectual disability</td></tr><tr><td>88618</td><td>S-adenosylhomocysteine hydrolase deficiency</td></tr><tr><td>88619</td><td>Familial acute necrotizing encephalopathy</td></tr><tr><td>88620</td><td>Isolated congenital anosmia</td></tr><tr><td>88621</td><td>Ichthyosis-prematurity syndrome</td></tr><tr><td>88628</td><td>Posterior column ataxia-retinitis pigmentosa syndrome</td></tr><tr><td>88629</td><td>Tritanopia</td></tr><tr><td>88630</td><td>Terminal osseous dysplasia-pigmentary defects syndrome</td></tr><tr><td>88633</td><td>Superior limbic keratoconjunctivitis</td></tr><tr><td>88635</td><td>Vacuolar myopathy with sarcoplasmic reticulum protein aggregates</td></tr><tr><td>88637</td><td>Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome</td></tr><tr><td>88639</td><td>Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency</td></tr><tr><td>88642</td><td>Congenital insensitivity to pain-anosmia-neuropathic arthropathy</td></tr><tr><td>88643</td><td>Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome</td></tr><tr><td>88644</td><td>Autosomal recessive ataxia, Beauce type</td></tr><tr><td>88659</td><td>Autosomal dominant progressive nephropathy with hypertension</td></tr><tr><td>88660</td><td>Hypertension due to gain-of-function mutations in the mineralocorticoid receptor</td></tr><tr><td>88661</td><td>Amelogenesis imperfecta</td></tr><tr><td>88917</td><td>X-linked Alport syndrome</td></tr><tr><td>88918</td><td>Autosomal dominant Alport syndrome</td></tr><tr><td>88919</td><td>Autosomal recessive Alport syndrome</td></tr><tr><td>88924</td><td>Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis</td></tr><tr><td>88938</td><td>Pseudohypoaldosteronism type 2A</td></tr><tr><td>88939</td><td>Pseudohypoaldosteronism type 2B</td></tr><tr><td>88940</td><td>Pseudohypoaldosteronism type 2C</td></tr><tr><td>88949</td><td>MUC1-related autosomal dominant tubulointerstitial kidney disease</td></tr><tr><td>88950</td><td>UMOD-related autosomal dominant tubulointerstitial kidney disease</td></tr><tr><td>89838</td><td>Autosomal recessive generalized epidermolysis bullosa simplex</td></tr><tr><td>89842</td><td>Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form</td></tr><tr><td>89843</td><td>Dystrophic epidermolysis bullosa pruriginosa</td></tr><tr><td>89844</td><td>Lissencephaly syndrome, Norman-Roberts type</td></tr><tr><td>89936</td><td>X-linked hypophosphatemia</td></tr><tr><td>89937</td><td>Autosomal dominant hypophosphatemic rickets</td></tr><tr><td>89938</td><td>Bartter syndrome type 4</td></tr><tr><td>90000</td><td>Erythema elevatum diutinum</td></tr><tr><td>90001</td><td>X-linked cone dysfunction syndrome with myopia</td></tr><tr><td>90002</td><td>Undifferentiated connective tissue syndrome</td></tr><tr><td>90003</td><td>Inflammatory pseudotumor of the liver</td></tr><tr><td>90020</td><td>Parkinson-dementia complex of Guam</td></tr><tr><td>90021</td><td>Radiation myelitis</td></tr><tr><td>90023</td><td>Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency</td></tr><tr><td>90024</td><td>Deafness with labyrinthine aplasia, microtia, and microdontia</td></tr><tr><td>90026</td><td>Primary erythromelalgia</td></tr><tr><td>90030</td><td>Hemolytic anemia due to glutathione reductase deficiency</td></tr><tr><td>90031</td><td>Non-spherocytic hemolytic anemia due to hexokinase deficiency</td></tr><tr><td>90033</td><td>Autoimmune hemolytic anemia, warm type</td></tr><tr><td>90035</td><td>Paroxysmal cold hemoglobinuria</td></tr><tr><td>90036</td><td>Mixed-type autoimmune hemolytic anemia</td></tr><tr><td>90037</td><td>Drug-induced autoimmune hemolytic anemia</td></tr><tr><td>90038</td><td>Shiga toxin-associated hemolytic uremic syndrome</td></tr><tr><td>90039</td><td>Hemoglobin D disease</td></tr><tr><td>90041</td><td>Gaisböck syndrome</td></tr><tr><td>90042</td><td>Primary familial polycythemia</td></tr><tr><td>90044</td><td>Familial pseudohyperkalemia</td></tr><tr><td>90045</td><td>Hereditary folate malabsorption</td></tr><tr><td>90050</td><td>Retinopathy of prematurity</td></tr><tr><td>90051</td><td>Sepsis in premature infants</td></tr><tr><td>90052</td><td>Recurrent hepatitis C virus induced liver disease in liver transplant recipients</td></tr><tr><td>90053</td><td>Complications after hematopoietic stem cell transplantation</td></tr><tr><td>90056</td><td>Moderate and severe traumatic brain injury</td></tr><tr><td>90058</td><td>Spinal cord injury</td></tr><tr><td>90059</td><td>Sudden sensorineural hearing loss</td></tr><tr><td>90060</td><td>Diffuse alveolar hemorrhage</td></tr><tr><td>90062</td><td>Acute liver failure</td></tr><tr><td>90064</td><td>Acute peripheral arterial occlusion</td></tr><tr><td>90065</td><td>Acquired aneurysmal subarachnoid hemorrhage</td></tr><tr><td>90066</td><td>Pneumonia caused by Pseudomonas aeruginosa infection</td></tr><tr><td>90068</td><td>Cocaine intoxication</td></tr><tr><td>90069</td><td>Systemic monochloroacetate poisoning</td></tr><tr><td>90073</td><td>Hepatitis B reinfection following liver transplantation</td></tr><tr><td>90076</td><td>Partial deep dermal and full thickness burns</td></tr><tr><td>90078</td><td>Invasive infections due to vancomycin-resistant enterococci</td></tr><tr><td>90080</td><td>Scarring in glaucoma filtration surgical procedures</td></tr><tr><td>90081</td><td>AIDS wasting syndrome</td></tr><tr><td>90103</td><td>Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome</td></tr><tr><td>90117</td><td>Hereditary motor and sensory neuropathy, Okinawa type</td></tr><tr><td>90118</td><td>Severe early-onset axonal neuropathy due to MFN2 deficiency</td></tr><tr><td>90119</td><td>Hereditary motor and sensory neuropathy with acrodystrophy</td></tr><tr><td>90120</td><td>Hereditary motor and sensory neuropathy type 6</td></tr><tr><td>90153</td><td>Mandibuloacral dysplasia with type A lipodystrophy</td></tr><tr><td>90154</td><td>Mandibuloacral dysplasia with type B lipodystrophy</td></tr><tr><td>90156</td><td>Centrifugal lipodystrophy</td></tr><tr><td>90157</td><td>Drug-induced localized lipodystrophy</td></tr><tr><td>90158</td><td>Idiopathic localized lipodystrophy</td></tr><tr><td>90159</td><td>Panniculitis-induced localized lipodystrophy</td></tr><tr><td>90160</td><td>Pressure-induced localized lipoatrophy</td></tr><tr><td>90186</td><td>Meige disease</td></tr><tr><td>90280</td><td>Chilblain lupus</td></tr><tr><td>90281</td><td>Discoid lupus erythematosus</td></tr><tr><td>90282</td><td>Hypertrophic or verrucous lupus erythematosus</td></tr><tr><td>90283</td><td>Lupus erythematosus tumidus</td></tr><tr><td>90285</td><td>Lupus erythematosus panniculitis</td></tr><tr><td>90289</td><td>Localized scleroderma</td></tr><tr><td>90291</td><td>Systemic sclerosis</td></tr><tr><td>90301</td><td>Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome</td></tr><tr><td>90307</td><td>Parkes Weber syndrome</td></tr><tr><td>90308</td><td>Klippel-Trénaunay syndrome</td></tr><tr><td>90321</td><td>Cockayne syndrome type 1</td></tr><tr><td>90322</td><td>Cockayne syndrome type 2</td></tr><tr><td>90324</td><td>Cockayne syndrome type 3</td></tr><tr><td>90340</td><td>Blau syndrome</td></tr><tr><td>90342</td><td>Xeroderma pigmentosum variant</td></tr><tr><td>90348</td><td>Autosomal dominant cutis laxa</td></tr><tr><td>90349</td><td>Autosomal recessive cutis laxa type 1</td></tr><tr><td>90354</td><td>Brittle cornea syndrome</td></tr><tr><td>90362</td><td>Primary intestinal lymphangiectasia</td></tr><tr><td>90363</td><td>Secondary intestinal lymphangiectasia</td></tr><tr><td>90368</td><td>Hypotrichosis simplex of the scalp</td></tr><tr><td>90389</td><td>Telangiectasia macularis eruptiva perstans</td></tr><tr><td>90390</td><td>Anonychia-onychodystrophy syndrome</td></tr><tr><td>90393</td><td>Nodular lichen myxedematosus</td></tr><tr><td>90394</td><td>Discrete papular lichen myxedematosus</td></tr><tr><td>90395</td><td>Papular mucinosis of infancy</td></tr><tr><td>90396</td><td>Acral persistent papular mucinosis</td></tr><tr><td>90397</td><td>Self-healing papular mucinosis</td></tr><tr><td>90398</td><td>Localized lichen myxedematosus with mixed features of different subtypes</td></tr><tr><td>90399</td><td>Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms</td></tr><tr><td>90400</td><td>Scleromyxedema without monoclonal gammopathy</td></tr><tr><td>90625</td><td>Rare X-linked non-syndromic sensorineural deafness type DFN</td></tr><tr><td>90635</td><td>Rare autosomal dominant non-syndromic sensorineural deafness type DFNA</td></tr><tr><td>90636</td><td>Rare autosomal recessive non-syndromic sensorineural deafness type DFNB</td></tr><tr><td>90641</td><td>Rare mitochondrial non-syndromic sensorineural deafness</td></tr><tr><td>90646</td><td>Deafness-hypogonadism syndrome</td></tr><tr><td>90647</td><td>Jervell and Lange-Nielsen syndrome</td></tr><tr><td>90650</td><td>Otopalatodigital syndrome type 1</td></tr><tr><td>90652</td><td>Otopalatodigital syndrome type 2</td></tr><tr><td>90653</td><td>Stickler syndrome type 1</td></tr><tr><td>90654</td><td>Stickler syndrome type 2</td></tr><tr><td>90658</td><td>Charcot-Marie-Tooth disease type 1E</td></tr><tr><td>90673</td><td>Hypothyroidism due to TSH receptor mutations</td></tr><tr><td>90674</td><td>Isolated thyroid-stimulating hormone deficiency</td></tr><tr><td>90695</td><td>Non-acquired panhypopituitarism</td></tr><tr><td>90790</td><td>Congenital lipoid adrenal hyperplasia due to STAR deficency</td></tr><tr><td>90791</td><td>Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency</td></tr><tr><td>90793</td><td>Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency</td></tr><tr><td>90794</td><td>Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</td></tr><tr><td>90795</td><td>Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency</td></tr><tr><td>90796</td><td>46,XY difference of sex development due to isolated 17,20-lyase deficiency</td></tr><tr><td>90797</td><td>Partial androgen insensitivity syndrome</td></tr><tr><td>91127</td><td>Adenovirus infection in immunocompromised patients</td></tr><tr><td>91130</td><td>Cardiomyopathy-hypotonia-lactic acidosis syndrome</td></tr><tr><td>91131</td><td>DK1-CDG</td></tr><tr><td>91132</td><td>Ichthyosis-hypotrichosis syndrome</td></tr><tr><td>91135</td><td>Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency</td></tr><tr><td>91136</td><td>Acquired monoclonal Ig light chain-associated Fanconi syndrome</td></tr><tr><td>91138</td><td>Cryoglobulinemic vasculitis</td></tr><tr><td>91139</td><td>Simple cryoglobulinemia</td></tr><tr><td>91140</td><td>Unspecified juvenile idiopathic arthritis</td></tr><tr><td>91347</td><td>TSH-secreting pituitary adenoma</td></tr><tr><td>91348</td><td>Functioning gonadotropic adenoma</td></tr><tr><td>91349</td><td>Non-functioning pituitary adenoma</td></tr><tr><td>91350</td><td>Pituitary deficiency due to Rathke cleft cysts</td></tr><tr><td>91351</td><td>Pituitary dermoid and epidermoid cysts</td></tr><tr><td>91352</td><td>Germinoma of the central nervous system</td></tr><tr><td>91354</td><td>Pituitary deficiency due to empty sella turcica syndrome</td></tr><tr><td>91355</td><td>Sheehan syndrome</td></tr><tr><td>91358</td><td>Congenital esophageal diverticulum</td></tr><tr><td>91359</td><td>Chronic pneumonitis of infancy</td></tr><tr><td>91364</td><td>Non-specific interstitial pneumonia</td></tr><tr><td>91387</td><td>Familial thoracic aortic aneurysm and aortic dissection</td></tr><tr><td>91396</td><td>Isolated cryptophthalmia</td></tr><tr><td>91397</td><td>Isolated ankyloblepharon filiforme adnatum</td></tr><tr><td>91411</td><td>Congenital ptosis</td></tr><tr><td>91412</td><td>Marcus-Gunn syndrome</td></tr><tr><td>91413</td><td>Congenital Horner syndrome</td></tr><tr><td>91414</td><td>Pilomatrixoma</td></tr><tr><td>91416</td><td>Isolated congenital alacrima</td></tr><tr><td>91481</td><td>Ring dermoid of cornea</td></tr><tr><td>91483</td><td>Rieger anomaly</td></tr><tr><td>91489</td><td>Isolated congenital megalocornea</td></tr><tr><td>91490</td><td>Isolated congenital sclerocornea</td></tr><tr><td>91491</td><td>Congenital ectropion uveae</td></tr><tr><td>91492</td><td>Early onset non-syndromic cataract</td></tr><tr><td>91494</td><td>Macular coloboma-cleft palate-hallux valgus syndrome</td></tr><tr><td>91495</td><td>Persistent hyperplastic primary vitreous</td></tr><tr><td>91496</td><td>Snowflake vitreoretinal degeneration</td></tr><tr><td>91498</td><td>Familial congenital palsy of trochlear nerve</td></tr><tr><td>91500</td><td>Tubulointerstitial nephritis and uveitis syndrome</td></tr><tr><td>91546</td><td>Lyme disease</td></tr><tr><td>91547</td><td>Relapsing fever</td></tr><tr><td>92050</td><td>Congenital tufting enteropathy</td></tr><tr><td>93100</td><td>Renal agenesis, unilateral</td></tr><tr><td>93101</td><td>Renal hypoplasia</td></tr><tr><td>93108</td><td>Renal dysplasia</td></tr><tr><td>93109</td><td>Congenital megacalycosis</td></tr><tr><td>93110</td><td>Posterior urethral valve</td></tr><tr><td>93111</td><td>HNF1B-related autosomal dominant tubulointerstitial kidney disease</td></tr><tr><td>93114</td><td>Autosomal dominant intermediate Charcot-Marie-Tooth disease type E</td></tr><tr><td>93126</td><td>Pauci-immune glomerulonephritis</td></tr><tr><td>93160</td><td>Hypocalcemic vitamin D-resistant rickets</td></tr><tr><td>93164</td><td>Transient pseudohypoaldosteronism</td></tr><tr><td>93172</td><td>Renal dysplasia, unilateral</td></tr><tr><td>93173</td><td>Renal dysplasia, bilateral</td></tr><tr><td>93176</td><td>Unilateral congenital megacalycosis</td></tr><tr><td>93177</td><td>Congenital bilateral megacalycosis</td></tr><tr><td>93256</td><td>Fragile X-associated tremor/ataxia syndrome</td></tr><tr><td>93258</td><td>Pfeiffer syndrome type 1</td></tr><tr><td>93259</td><td>Pfeiffer syndrome type 2</td></tr><tr><td>93260</td><td>Pfeiffer syndrome type 3</td></tr><tr><td>93262</td><td>Crouzon syndrome-acanthosis nigricans syndrome</td></tr><tr><td>93267</td><td>Cloverleaf skull-multiple congenital anomalies syndrome</td></tr><tr><td>93268</td><td>Short rib-polydactyly syndrome, Beemer-Langer type</td></tr><tr><td>93269</td><td>Short rib-polydactyly syndrome, Majewski type</td></tr><tr><td>93270</td><td>Short rib-polydactyly syndrome, Saldino-Noonan type</td></tr><tr><td>93271</td><td>Short rib-polydactyly syndrome, Verma-Naumoff type</td></tr><tr><td>93274</td><td>Thanatophoric dysplasia type 2</td></tr><tr><td>93276</td><td>Polyostotic fibrous dysplasia</td></tr><tr><td>93277</td><td>Monostotic fibrous dysplasia</td></tr><tr><td>93279</td><td>Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis</td></tr><tr><td>93282</td><td>Spondyloepimetaphyseal dysplasia, PAPSS2 type</td></tr><tr><td>93283</td><td>Spondyloepiphyseal dysplasia, Kimberley type</td></tr><tr><td>93284</td><td>Spondyloepiphyseal dysplasia tarda</td></tr><tr><td>93292</td><td>Adenoma of pancreas</td></tr><tr><td>93293</td><td>Okihiro syndrome</td></tr><tr><td>93296</td><td>Achondrogenesis type 2</td></tr><tr><td>93297</td><td>Hypochondrogenesis</td></tr><tr><td>93298</td><td>Achondrogenesis type 1B</td></tr><tr><td>93299</td><td>Achondrogenesis type 1A</td></tr><tr><td>93302</td><td>Brachyolmia, Maroteaux type</td></tr><tr><td>93304</td><td>Autosomal dominant brachyolmia</td></tr><tr><td>93307</td><td>Multiple epiphyseal dysplasia type 4</td></tr><tr><td>93308</td><td>Multiple epiphyseal dysplasia type 1</td></tr><tr><td>93311</td><td>Multiple epiphyseal dysplasia type 5</td></tr><tr><td>93314</td><td>Spondylometaphyseal dysplasia, Kozlowski type</td></tr><tr><td>93315</td><td>Spondylometaphyseal dysplasia, 'corner fracture' type</td></tr><tr><td>93316</td><td>Spondylometaphyseal dysplasia, Schmidt type</td></tr><tr><td>93317</td><td>Spondylometaphyseal dysplasia, Sedaghatian type</td></tr><tr><td>93320</td><td>Isolated ulnar hemimelia</td></tr><tr><td>93321</td><td>Isolated radial hemimelia</td></tr><tr><td>93322</td><td>Isolated tibial hemimelia</td></tr><tr><td>93323</td><td>Isolated fibular hemimelia</td></tr><tr><td>93324</td><td>Autosomal recessive Kenny-Caffey syndrome</td></tr><tr><td>93325</td><td>Autosomal dominant Kenny-Caffey syndrome</td></tr><tr><td>93328</td><td>Autosomal dominant omodysplasia</td></tr><tr><td>93329</td><td>Autosomal recessive omodysplasia</td></tr><tr><td>93333</td><td>Pelviscapular dysplasia</td></tr><tr><td>93334</td><td>Postaxial polydactyly type A</td></tr><tr><td>93335</td><td>Postaxial polydactyly type B</td></tr><tr><td>93336</td><td>Polydactyly of a triphalangeal thumb</td></tr><tr><td>93337</td><td>Polydactyly of an index finger</td></tr><tr><td>93338</td><td>Polysyndactyly</td></tr><tr><td>93339</td><td>Polydactyly of a biphalangeal thumb and/or hallux</td></tr><tr><td>93346</td><td>Spondyloepimetaphyseal dysplasia congenita, Strudwick type</td></tr><tr><td>93347</td><td>Anauxetic dysplasia</td></tr><tr><td>93349</td><td>X-linked spondyloepimetaphyseal dysplasia</td></tr><tr><td>93351</td><td>Spondyloepimetaphyseal dysplasia, Irapa type</td></tr><tr><td>93352</td><td>Spondyloepimetaphyseal dysplasia, Shohat type</td></tr><tr><td>93356</td><td>Spondyloepimetaphyseal dysplasia, Missouri type</td></tr><tr><td>93357</td><td>SPONASTRIME dysplasia</td></tr><tr><td>93358</td><td>Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome</td></tr><tr><td>93360</td><td>Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type</td></tr><tr><td>93372</td><td>Familial hypocalciuric hypercalcemia type 1</td></tr><tr><td>93382</td><td>Brachydactyly type A6</td></tr><tr><td>93383</td><td>Brachydactyly type B</td></tr><tr><td>93384</td><td>Brachydactyly type C</td></tr><tr><td>93387</td><td>Brachydactyly type E</td></tr><tr><td>93388</td><td>Brachydactyly type A1</td></tr><tr><td>93394</td><td>Brachydactyly type A4</td></tr><tr><td>93396</td><td>Brachydactyly type A2</td></tr><tr><td>93397</td><td>Brachydactyly type A7</td></tr><tr><td>93398</td><td>Genochondromatosis type 2</td></tr><tr><td>93399</td><td>Juvenile sialidosis type 2</td></tr><tr><td>93400</td><td>Congenital sialidosis type 2</td></tr><tr><td>93402</td><td>Syndactyly type 1</td></tr><tr><td>93403</td><td>Syndactyly type 2</td></tr><tr><td>93404</td><td>Syndactyly type 3</td></tr><tr><td>93405</td><td>Syndactyly type 4</td></tr><tr><td>93406</td><td>Syndactyly type 5</td></tr><tr><td>93409</td><td>Brachydactyly-syndactyly, Zhao type</td></tr><tr><td>93473</td><td>Hurler syndrome</td></tr><tr><td>93474</td><td>Scheie syndrome</td></tr><tr><td>93476</td><td>Hurler-Scheie syndrome</td></tr><tr><td>93552</td><td>Pediatric systemic lupus erythematosus</td></tr><tr><td>93554</td><td>Mixed cryoglobulinemia type II</td></tr><tr><td>93555</td><td>Mixed cryoglobulinemia type III</td></tr><tr><td>93556</td><td>Heavy chain deposition disease</td></tr><tr><td>93557</td><td>Light and heavy chain deposition disease</td></tr><tr><td>93558</td><td>Light chain deposition disease</td></tr><tr><td>93560</td><td>AApoAI amyloidosis</td></tr><tr><td>93561</td><td>ALys amyloidosis</td></tr><tr><td>93562</td><td>AFib amyloidosis</td></tr><tr><td>93568</td><td>Juvenile polymyositis</td></tr><tr><td>93571</td><td>Dense deposit disease</td></tr><tr><td>93581</td><td>Atypical hemolytic uremic syndrome with anti-factor H antibodies</td></tr><tr><td>93583</td><td>Congenital thrombotic thrombocytopenic purpura</td></tr><tr><td>93585</td><td>Immune-mediated thrombotic thrombocytopenic purpura</td></tr><tr><td>93589</td><td>Late-onset nephronophthisis</td></tr><tr><td>93591</td><td>Infantile nephronophthisis</td></tr><tr><td>93592</td><td>Juvenile nephronophthisis</td></tr><tr><td>93598</td><td>Primary hyperoxaluria type 1</td></tr><tr><td>93599</td><td>Primary hyperoxaluria type 2</td></tr><tr><td>93600</td><td>Primary hyperoxaluria type 3</td></tr><tr><td>93601</td><td>Xanthinuria type I</td></tr><tr><td>93602</td><td>Xanthinuria type II</td></tr><tr><td>93605</td><td>Bartter syndrome type 3</td></tr><tr><td>93606</td><td>Nephrogenic syndrome of inappropriate antidiuresis</td></tr><tr><td>93607</td><td>Autosomal recessive proximal renal tubular acidosis</td></tr><tr><td>93608</td><td>Autosomal dominant distal renal tubular acidosis</td></tr><tr><td>93610</td><td>Distal renal tubular acidosis with anemia</td></tr><tr><td>93612</td><td>Cystinuria type A</td></tr><tr><td>93613</td><td>Cystinuria type B</td></tr><tr><td>93616</td><td>Hemoglobin H disease</td></tr><tr><td>93622</td><td>Dent disease type 1</td></tr><tr><td>93623</td><td>Dent disease type 2</td></tr><tr><td>93672</td><td>Juvenile dermatomyositis</td></tr><tr><td>93685</td><td>Unicentric Castleman disease</td></tr><tr><td>93921</td><td>Full schwannomatosis</td></tr><tr><td>93924</td><td>Lobar holoprosencephaly</td></tr><tr><td>93925</td><td>Alobar holoprosencephaly</td></tr><tr><td>93926</td><td>Midline interhemispheric variant of holoprosencephaly</td></tr><tr><td>93928</td><td>Isolated epispadias</td></tr><tr><td>93929</td><td>Cloacal exstrophy</td></tr><tr><td>93930</td><td>Bladder exstrophy</td></tr><tr><td>93932</td><td>FG syndrome type 1</td></tr><tr><td>93938</td><td>Laryngotracheoesophageal cleft type 1</td></tr><tr><td>93939</td><td>Laryngotracheoesophageal cleft type 2</td></tr><tr><td>93940</td><td>Laryngotracheoesophageal cleft type 3</td></tr><tr><td>93941</td><td>Laryngotracheoesophageal cleft type 4</td></tr><tr><td>93945</td><td>X-linked intellectual disability, Porteous type</td></tr><tr><td>93946</td><td>Hamel cerebro-palato-cardiac syndrome</td></tr><tr><td>93947</td><td>X-linked intellectual disability, Golabi-Ito-Hall type</td></tr><tr><td>93950</td><td>X-linked intellectual disability, Sutherland-Haan type</td></tr><tr><td>93952</td><td>X-linked intellectual disability, Hedera type</td></tr><tr><td>93953</td><td>Familial thyroglossal duct cyst</td></tr><tr><td>93958</td><td>Oromandibular dystonia</td></tr><tr><td>93964</td><td>Blepharospasm-oromandibular dystonia syndrome</td></tr><tr><td>93969</td><td>Open spinal dysraphism with a myelomeningocele</td></tr><tr><td>93976</td><td>Anotia</td></tr><tr><td>94056</td><td>Isolated humero-ulnar synostosis</td></tr><tr><td>94058</td><td>Neovascular glaucoma</td></tr><tr><td>94059</td><td>Uremic pruritus</td></tr><tr><td>94063</td><td>12q14 microdeletion syndrome</td></tr><tr><td>94064</td><td>Deafness-infertility syndrome</td></tr><tr><td>94065</td><td>15q24 microdeletion syndrome</td></tr><tr><td>94066</td><td>Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia</td></tr><tr><td>94068</td><td>Spondyloepiphyseal dysplasia congenita</td></tr><tr><td>94080</td><td>Non-functioning paraganglioma</td></tr><tr><td>94083</td><td>Partington syndrome</td></tr><tr><td>94086</td><td>Blue diaper syndrome</td></tr><tr><td>94087</td><td>Cytophagic histiocytic panniculitis</td></tr><tr><td>94088</td><td>Hereditary renal hypouricemia</td></tr><tr><td>94089</td><td>Pseudohypoparathyroidism type 1B</td></tr><tr><td>94090</td><td>Pseudohypoparathyroidism type 2</td></tr><tr><td>94091</td><td>Mills syndrome</td></tr><tr><td>94093</td><td>Neuroleptic malignant syndrome</td></tr><tr><td>94122</td><td>Cerebellar ataxia, Cayman type</td></tr><tr><td>94124</td><td>Spinocerebellar ataxia with axonal neuropathy type 1</td></tr><tr><td>94125</td><td>Recessive mitochondrial ataxia syndrome</td></tr><tr><td>94147</td><td>Spinocerebellar ataxia type 7</td></tr><tr><td>94150</td><td>Anonychia congenita totalis</td></tr><tr><td>95159</td><td>Hepatoerythropoietic porphyria</td></tr><tr><td>95232</td><td>Lissencephaly due to LIS1 mutation</td></tr><tr><td>95409</td><td>Acute adrenal insufficiency</td></tr><tr><td>95427</td><td>Secondary short bowel syndrome</td></tr><tr><td>95428</td><td>COG8-CDG</td></tr><tr><td>95429</td><td>Angioma serpiginosum</td></tr><tr><td>95430</td><td>Congenital tracheomalacia</td></tr><tr><td>95431</td><td>Twin to twin transfusion syndrome</td></tr><tr><td>95433</td><td>Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome</td></tr><tr><td>95434</td><td>Autosomal recessive cerebellar ataxia-movement disorder syndrome</td></tr><tr><td>95443</td><td>Mesocardia</td></tr><tr><td>95448</td><td>Congenital aortic valve atresia</td></tr><tr><td>95455</td><td>Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum</td></tr><tr><td>95457</td><td>Tricuspid valve agenesis</td></tr><tr><td>95459</td><td>Congenital tricuspid stenosis</td></tr><tr><td>95461</td><td>Straddling or overriding tricuspid valve</td></tr><tr><td>95462</td><td>Accessory tricuspid valve tissue</td></tr><tr><td>95465</td><td>Cleft mitral valve</td></tr><tr><td>95474</td><td>Double-orifice mitral valve</td></tr><tr><td>95486</td><td>Premature closure of the arterial duct</td></tr><tr><td>95491</td><td>Congenital coronary artery aneurysm</td></tr><tr><td>95494</td><td>Combined pituitary hormone deficiencies, genetic forms</td></tr><tr><td>95496</td><td>Pituitary stalk interruption syndrome</td></tr><tr><td>95507</td><td>Congenital anomaly of hepatic vein</td></tr><tr><td>95512</td><td>Adenohypophysitis</td></tr><tr><td>95513</td><td>Panhypophysitis</td></tr><tr><td>95613</td><td>Pituitary apoplexy</td></tr><tr><td>95619</td><td>Post-traumatic pituitary deficiency</td></tr><tr><td>95626</td><td>Acquired arginine vasopressin deficiency</td></tr><tr><td>95699</td><td>Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency</td></tr><tr><td>95700</td><td>Familial adrenal hypoplasia with absent pituitary luteinizing hormone</td></tr><tr><td>95702</td><td>X-linked adrenal hypoplasia congenita</td></tr><tr><td>95706</td><td>Non-syndromic posterior hypospadias</td></tr><tr><td>95707</td><td>Idiopathic isolated micropenis</td></tr><tr><td>95712</td><td>Thyroid ectopia</td></tr><tr><td>95713</td><td>Athyreosis</td></tr><tr><td>95715</td><td>Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies</td></tr><tr><td>95716</td><td>Familial thyroid dyshormonogenesis</td></tr><tr><td>95717</td><td>Idiopathic congenital hypothyroidism</td></tr><tr><td>95719</td><td>Thyroid hemiagenesis</td></tr><tr><td>95720</td><td>Thyroid hypoplasia</td></tr><tr><td>95854</td><td>Levocardia</td></tr><tr><td>96055</td><td>Tetrasomy 21</td></tr><tr><td>96059</td><td>Mosaic trisomy 4</td></tr><tr><td>96060</td><td>Mosaic trisomy 5</td></tr><tr><td>96061</td><td>Mosaic trisomy 8</td></tr><tr><td>96063</td><td>Mosaic trisomy 10</td></tr><tr><td>96068</td><td>Mosaic trisomy 22</td></tr><tr><td>96069</td><td>Distal duplication 1p36</td></tr><tr><td>96070</td><td>Distal duplication 2p</td></tr><tr><td>96071</td><td>Distal duplication 3p</td></tr><tr><td>96072</td><td>4p16.3 microduplication syndrome</td></tr><tr><td>96074</td><td>Distal duplication 7p</td></tr><tr><td>96076</td><td>Beckwith-Wiedemann syndrome due to 11p15 microduplication</td></tr><tr><td>96078</td><td>16p13.3 microduplication syndrome</td></tr><tr><td>96092</td><td>8p inverted duplication/deletion syndrome</td></tr><tr><td>96094</td><td>Distal duplication 2q</td></tr><tr><td>96095</td><td>3q26 microduplication syndrome</td></tr><tr><td>96096</td><td>Distal duplication 4q</td></tr><tr><td>96097</td><td>Distal duplication 5q</td></tr><tr><td>96098</td><td>Distal duplication 6q</td></tr><tr><td>96100</td><td>Distal duplication 8q</td></tr><tr><td>96101</td><td>Distal duplication 9q</td></tr><tr><td>96102</td><td>Distal duplication 10q</td></tr><tr><td>96103</td><td>Distal duplication 11q</td></tr><tr><td>96105</td><td>Distal duplication 13q</td></tr><tr><td>96106</td><td>Distal duplication 16q</td></tr><tr><td>96107</td><td>Distal duplication 20q</td></tr><tr><td>96109</td><td>Distal duplication 22q</td></tr><tr><td>96112</td><td>Non-distal duplication 9q</td></tr><tr><td>96121</td><td>7q11.23 microduplication syndrome</td></tr><tr><td>96123</td><td>Monosomy 22</td></tr><tr><td>96125</td><td>Distal deletion 6p</td></tr><tr><td>96126</td><td>Distal deletion 7p</td></tr><tr><td>96129</td><td>Distal deletion 19p</td></tr><tr><td>96145</td><td>Distal deletion 4q</td></tr><tr><td>96147</td><td>Kleefstra syndrome due to 9q34 microdeletion</td></tr><tr><td>96148</td><td>Distal deletion 10q</td></tr><tr><td>96149</td><td>Distal deletion 12q</td></tr><tr><td>96150</td><td>Distal deletion 14q</td></tr><tr><td>96160</td><td>Non-distal deletion 12q</td></tr><tr><td>96167</td><td>Recombinant 8 syndrome</td></tr><tr><td>96168</td><td>Monosomy 13q34</td></tr><tr><td>96169</td><td>Koolen-De Vries syndrome</td></tr><tr><td>96170</td><td>Emanuel syndrome</td></tr><tr><td>96171</td><td>Ring chromosome 2 syndrome</td></tr><tr><td>96172</td><td>Ring chromosome 3 syndrome</td></tr><tr><td>96173</td><td>Ring chromosome 9 syndrome</td></tr><tr><td>96175</td><td>Ring chromosome 11 syndrome</td></tr><tr><td>96176</td><td>Ring chromosome 13 syndrome</td></tr><tr><td>96177</td><td>Ring chromosome 15 syndrome</td></tr><tr><td>96178</td><td>Ring chromosome 16 syndrome</td></tr><tr><td>96179</td><td>Maternal uniparental disomy of chromosome 2</td></tr><tr><td>96180</td><td>Maternal uniparental disomy of chromosome 4</td></tr><tr><td>96181</td><td>Maternal uniparental disomy of chromosome 6</td></tr><tr><td>96182</td><td>Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7</td></tr><tr><td>96183</td><td>Maternal uniparental disomy of chromosome 9</td></tr><tr><td>96184</td><td>Temple syndrome due to maternal uniparental disomy of chromosome 14</td></tr><tr><td>96185</td><td>Maternal uniparental disomy of chromosome 16</td></tr><tr><td>96186</td><td>Maternal uniparental disomy of chromosome 20</td></tr><tr><td>96187</td><td>Maternal uniparental disomy of chromosome 21</td></tr><tr><td>96188</td><td>Maternal uniparental disomy of chromosome 22</td></tr><tr><td>96190</td><td>Paternal uniparental disomy of chromosome 5</td></tr><tr><td>96191</td><td>Paternal uniparental disomy of chromosome 6</td></tr><tr><td>96192</td><td>Paternal uniparental disomy of chromosome 7</td></tr><tr><td>96193</td><td>Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11</td></tr><tr><td>96194</td><td>Paternal uniparental disomy of chromosome 20</td></tr><tr><td>96195</td><td>Paternal uniparental disomy of chromosome 21</td></tr><tr><td>96201</td><td>X small rings</td></tr><tr><td>96253</td><td>Cushing disease</td></tr><tr><td>96263</td><td>48,XXXY syndrome</td></tr><tr><td>96264</td><td>49,XXXXY syndrome</td></tr><tr><td>96265</td><td>Leydig cell hypoplasia due to complete LH resistance</td></tr><tr><td>96266</td><td>Leydig cell hypoplasia due to partial LH resistance</td></tr><tr><td>96269</td><td>Isolated partial vaginal agenesis</td></tr><tr><td>96334</td><td>Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14</td></tr><tr><td>97214</td><td>Eisenmenger syndrome</td></tr><tr><td>97229</td><td>Riboflavin transporter deficiency</td></tr><tr><td>97230</td><td>Solar urticaria</td></tr><tr><td>97232</td><td>Fingerprint body myopathy</td></tr><tr><td>97234</td><td>Glycogen storage disease due to phosphoglycerate mutase deficiency</td></tr><tr><td>97238</td><td>Rippling muscle disease</td></tr><tr><td>97239</td><td>Reducing body myopathy</td></tr><tr><td>97240</td><td>Zebra body myopathy</td></tr><tr><td>97244</td><td>Rigid spine syndrome</td></tr><tr><td>97249</td><td>Pontocerebellar hypoplasia type 3</td></tr><tr><td>97252</td><td>Mega-cisterna magna</td></tr><tr><td>97261</td><td>GRFoma</td></tr><tr><td>97278</td><td>PPoma</td></tr><tr><td>97279</td><td>Insulinoma</td></tr><tr><td>97280</td><td>Glucagonoma</td></tr><tr><td>97282</td><td>VIPoma</td></tr><tr><td>97283</td><td>Somatostatinoma</td></tr><tr><td>97285</td><td>Thyroid lymphoma</td></tr><tr><td>97286</td><td>Carney-Stratakis syndrome</td></tr><tr><td>97287</td><td>Bronchial neuroendocrine tumor</td></tr><tr><td>97289</td><td>Thymic neuroendocrine tumor</td></tr><tr><td>97290</td><td>Familial papillary thyroid carcinoma with renal papillary neoplasia</td></tr><tr><td>97292</td><td>Cardiogenic shock</td></tr><tr><td>97297</td><td>Bohring-Opitz syndrome</td></tr><tr><td>97330</td><td>Thoracic outlet syndrome</td></tr><tr><td>97332</td><td>Kienbock disease</td></tr><tr><td>97335</td><td>Osgood-Schlatter disease</td></tr><tr><td>97336</td><td>Panner disease</td></tr><tr><td>97337</td><td>Sinding-Larsen-Johansson disease</td></tr><tr><td>97338</td><td>Melanoma of soft tissue</td></tr><tr><td>97339</td><td>Dural sinus malformation</td></tr><tr><td>97340</td><td>Hunter-McAlpine syndrome</td></tr><tr><td>97341</td><td>Persistent placoid maculopathy</td></tr><tr><td>97345</td><td>ABri amyloidosis</td></tr><tr><td>97346</td><td>ADan amyloidosis</td></tr><tr><td>97349</td><td>Postencephalitic parkinsonism</td></tr><tr><td>97352</td><td>Pellagra</td></tr><tr><td>97353</td><td>Dementia pugilistica</td></tr><tr><td>97355</td><td>Caribbean parkinsonism</td></tr><tr><td>97360</td><td>Robinow syndrome</td></tr><tr><td>97361</td><td>Renal hypoplasia, unilateral</td></tr><tr><td>97362</td><td>Renal hypoplasia, bilateral</td></tr><tr><td>97363</td><td>Unilateral multicystic dysplastic kidney</td></tr><tr><td>97364</td><td>Bilateral multicystic dysplastic kidney</td></tr><tr><td>97366</td><td>Multiloculated renal cyst</td></tr><tr><td>97367</td><td>Renal tubular dysgenesis due to twin-twin transfusion</td></tr><tr><td>97368</td><td>Drug-related renal tubular dysgenesis</td></tr><tr><td>97369</td><td>Renal tubular dysgenesis of genetic origin</td></tr><tr><td>97548</td><td>Right sided atrial isomerism</td></tr><tr><td>97560</td><td>Primary membranous glomerulonephritis</td></tr><tr><td>97563</td><td>Pauci-immune glomerulonephritis with ANCA</td></tr><tr><td>97564</td><td>Pauci-immune glomerulonephritis without ANCA</td></tr><tr><td>97566</td><td>Non-amyloid fibrillary glomerulopathy</td></tr><tr><td>97567</td><td>Immunotactoid glomerulopathy</td></tr><tr><td>97598</td><td>Congenital renal artery stenosis</td></tr><tr><td>97678</td><td>Maternal uniparental disomy of chromosome 13</td></tr><tr><td>97685</td><td>17q11 microdeletion syndrome</td></tr><tr><td>98267</td><td>Genetic non-syndromic obesity</td></tr><tr><td>98434</td><td>Hereditary combined deficiency of vitamin K-dependent clotting factors</td></tr><tr><td>98606</td><td>Syndromic orbital border hypoplasia</td></tr><tr><td>98619</td><td>Rare isolated myopia</td></tr><tr><td>98673</td><td>Autosomal dominant optic atrophy, classic form</td></tr><tr><td>98676</td><td>Autosomal recessive isolated optic atrophy</td></tr><tr><td>98686</td><td>Congenital trochlear nerve palsy</td></tr><tr><td>98754</td><td>Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15</td></tr><tr><td>98755</td><td>Spinocerebellar ataxia type 1</td></tr><tr><td>98756</td><td>Spinocerebellar ataxia type 2</td></tr><tr><td>98757</td><td>Spinocerebellar ataxia type 3</td></tr><tr><td>98758</td><td>Spinocerebellar ataxia type 6</td></tr><tr><td>98759</td><td>Spinocerebellar ataxia type 17</td></tr><tr><td>98760</td><td>Spinocerebellar ataxia type 8</td></tr><tr><td>98761</td><td>Spinocerebellar ataxia type 10</td></tr><tr><td>98762</td><td>Spinocerebellar ataxia type 12</td></tr><tr><td>98763</td><td>Spinocerebellar ataxia type 14</td></tr><tr><td>98764</td><td>Spinocerebellar ataxia type 27</td></tr><tr><td>98765</td><td>Spinocerebellar ataxia type 4</td></tr><tr><td>98766</td><td>Spinocerebellar ataxia type 5</td></tr><tr><td>98767</td><td>Spinocerebellar ataxia type 11</td></tr><tr><td>98768</td><td>Spinocerebellar ataxia type 13</td></tr><tr><td>98769</td><td>Spinocerebellar ataxia type 15/16</td></tr><tr><td>98771</td><td>Spinocerebellar ataxia type 18</td></tr><tr><td>98772</td><td>Spinocerebellar ataxia type 19/22</td></tr><tr><td>98773</td><td>Spinocerebellar ataxia type 21</td></tr><tr><td>98784</td><td>Autosomal dominant nocturnal frontal lobe epilepsy</td></tr><tr><td>98791</td><td>Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16</td></tr><tr><td>98793</td><td>Prader-Willi syndrome due to paternal 15q11q13 deletion</td></tr><tr><td>98794</td><td>Angelman syndrome due to maternal 15q11q13 deletion</td></tr><tr><td>98795</td><td>Angelman syndrome due to paternal uniparental disomy of chromosome 15</td></tr><tr><td>98797</td><td>Isochromosomy Yp</td></tr><tr><td>98798</td><td>Isochromosomy Yq</td></tr><tr><td>98805</td><td>Primary dystonia, DYT4 type</td></tr><tr><td>98806</td><td>Primary dystonia, DYT6 type</td></tr><tr><td>98807</td><td>Primary dystonia, DYT13 type</td></tr><tr><td>98808</td><td>Autosomal dominant dopa-responsive dystonia</td></tr><tr><td>98809</td><td>Paroxysmal kinesigenic dyskinesia</td></tr><tr><td>98810</td><td>Paroxysmal non-kinesigenic dyskinesia</td></tr><tr><td>98811</td><td>Paroxysmal exertion-induced dyskinesia</td></tr><tr><td>98813</td><td>Hypohidrotic ectodermal dysplasia with immunodeficiency</td></tr><tr><td>98815</td><td>Benign childhood occipital epilepsy, Panayiotopoulos type</td></tr><tr><td>98816</td><td>Benign childhood occipital epilepsy, Gastaut type</td></tr><tr><td>98818</td><td>Landau-Kleffner syndrome</td></tr><tr><td>98819</td><td>Familial temporal lobe epilepsy</td></tr><tr><td>98820</td><td>Familial focal epilepsy with variable foci</td></tr><tr><td>98823</td><td>Chronic myelomonocytic leukemia</td></tr><tr><td>98824</td><td>Atypical chronic myeloid leukemia</td></tr><tr><td>98825</td><td>Unclassified myelodysplastic/myeloproliferative disease</td></tr><tr><td>98826</td><td>Myelodysplastic neoplasm with low blasts</td></tr><tr><td>98827</td><td>Unclassified myelodysplastic syndrome</td></tr><tr><td>98829</td><td>Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)</td></tr><tr><td>98831</td><td>Acute myeloid leukemia with 11q23 abnormalities</td></tr><tr><td>98832</td><td>Acute myeloid leukemia with minimal differentiation</td></tr><tr><td>98833</td><td>Acute myeloblastic leukemia without maturation</td></tr><tr><td>98834</td><td>Acute myeloblastic leukemia with maturation</td></tr><tr><td>98835</td><td>Acute undifferentiated leukemia</td></tr><tr><td>98838</td><td>Primary mediastinal large B-cell lymphoma</td></tr><tr><td>98839</td><td>Intravascular large B-cell lymphoma</td></tr><tr><td>98841</td><td>Anaplastic large cell lymphoma</td></tr><tr><td>98842</td><td>Lymphomatoid papulosis</td></tr><tr><td>98843</td><td>Classic Hodgkin lymphoma, nodular sclerosis type</td></tr><tr><td>98844</td><td>Classic Hodgkin lymphoma, mixed cellularity type</td></tr><tr><td>98845</td><td>Classic Hodgkin lymphoma, lymphocyte-rich type</td></tr><tr><td>98846</td><td>Classic Hodgkin lymphoma, lymphocyte-depleted type</td></tr><tr><td>98848</td><td>Indolent systemic mastocytosis</td></tr><tr><td>98849</td><td>Systemic mastocytosis with associated hematologic neoplasm</td></tr><tr><td>98850</td><td>Aggressive systemic mastocytosis</td></tr><tr><td>98851</td><td>Mast cell leukemia</td></tr><tr><td>98852</td><td>Desquamative interstitial pneumonia</td></tr><tr><td>98853</td><td>Autosomal dominant Emery-Dreifuss muscular dystrophy</td></tr><tr><td>98855</td><td>Autosomal recessive Emery-Dreifuss muscular dystrophy</td></tr><tr><td>98856</td><td>Charcot-Marie-Tooth disease type 2B1</td></tr><tr><td>98863</td><td>X-linked Emery-Dreifuss muscular dystrophy</td></tr><tr><td>98868</td><td>Southeast Asian ovalocytosis</td></tr><tr><td>98869</td><td>Congenital dyserythropoietic anemia type I</td></tr><tr><td>98870</td><td>Congenital dyserythropoietic anemia type III</td></tr><tr><td>98871</td><td>Transient erythroblastopenia of childhood</td></tr><tr><td>98872</td><td>Primary acquired pure red cell aplasia</td></tr><tr><td>98873</td><td>Congenital dyserythropoietic anemia type II</td></tr><tr><td>98878</td><td>Hemophilia A</td></tr><tr><td>98879</td><td>Hemophilia B</td></tr><tr><td>98880</td><td>Familial afibrinogenemia</td></tr><tr><td>98881</td><td>Familial dysfibrinogenemia</td></tr><tr><td>98885</td><td>Bleeding diathesis due to glycoprotein VI deficiency</td></tr><tr><td>98886</td><td>Bleeding diathesis due to integrin alpha2-beta1 deficiency</td></tr><tr><td>98889</td><td>Bilateral perisylvian polymicrogyria</td></tr><tr><td>98890</td><td>Early-onset X-linked optic atrophy</td></tr><tr><td>98892</td><td>Periventricular nodular heterotopia</td></tr><tr><td>98893</td><td>Congenital muscular dystrophy type 1B</td></tr><tr><td>98895</td><td>Becker muscular dystrophy</td></tr><tr><td>98896</td><td>Duchenne muscular dystrophy</td></tr><tr><td>98897</td><td>Oculopharyngodistal myopathy</td></tr><tr><td>98902</td><td>Amish nemaline myopathy</td></tr><tr><td>98904</td><td>Congenital myopathy with excess of thin filaments</td></tr><tr><td>98905</td><td>Congenital multicore myopathy with external ophthalmoplegia</td></tr><tr><td>98907</td><td>Neutral lipid storage disease with ichthyosis</td></tr><tr><td>98908</td><td>Neutral lipid storage disease with myopathy</td></tr><tr><td>98909</td><td>Desminopathy</td></tr><tr><td>98911</td><td>Distal myotilinopathy</td></tr><tr><td>98912</td><td>Late-onset distal myopathy, Markesbery-Griggs type</td></tr><tr><td>98913</td><td>Postsynaptic congenital myasthenic syndromes</td></tr><tr><td>98914</td><td>Presynaptic congenital myasthenic syndromes</td></tr><tr><td>98915</td><td>Synaptic congenital myasthenic syndromes</td></tr><tr><td>98916</td><td>Acute inflammatory demyelinating polyradiculoneuropathy</td></tr><tr><td>98917</td><td>Acute motor and sensory axonal neuropathy</td></tr><tr><td>98918</td><td>Acute motor axonal neuropathy</td></tr><tr><td>98919</td><td>Miller Fisher syndrome</td></tr><tr><td>98920</td><td>Spinal muscular atrophy with respiratory distress type 1</td></tr><tr><td>98922</td><td>Blake pouch cyst</td></tr><tr><td>98933</td><td>Multiple system atrophy, parkinsonian type</td></tr><tr><td>98934</td><td>Huntington disease-like 2</td></tr><tr><td>98938</td><td>Colobomatous microphthalmia</td></tr><tr><td>98942</td><td>Coloboma of choroid and retina</td></tr><tr><td>98943</td><td>Coloboma of eye lens</td></tr><tr><td>98944</td><td>Coloboma of iris</td></tr><tr><td>98945</td><td>Coloboma of macula</td></tr><tr><td>98946</td><td>Coloboma of eyelid</td></tr><tr><td>98947</td><td>Coloboma of optic disc</td></tr><tr><td>98948</td><td>Congenital symblepharon</td></tr><tr><td>98949</td><td>Complete cryptophthalmia</td></tr><tr><td>98950</td><td>Partial cryptophthalmia</td></tr><tr><td>98951</td><td>Inverse Marcus-Gunn phenomenon</td></tr><tr><td>98954</td><td>Meesmann corneal dystrophy</td></tr><tr><td>98955</td><td>Lisch epithelial corneal dystrophy</td></tr><tr><td>98956</td><td>Epithelial basement membrane dystrophy</td></tr><tr><td>98957</td><td>Gelatinous drop-like corneal dystrophy</td></tr><tr><td>98958</td><td>Climatic droplet keratopathy</td></tr><tr><td>98959</td><td>Subepithelial mucinous corneal dystrophy</td></tr><tr><td>98960</td><td>Thiel-Behnke corneal dystrophy</td></tr><tr><td>98961</td><td>Reis-Bücklers corneal dystrophy</td></tr><tr><td>98962</td><td>Granular corneal dystrophy type I</td></tr><tr><td>98963</td><td>Granular corneal dystrophy type II</td></tr><tr><td>98964</td><td>Lattice corneal dystrophy type I</td></tr><tr><td>98967</td><td>Schnyder corneal dystrophy</td></tr><tr><td>98969</td><td>Macular corneal dystrophy</td></tr><tr><td>98970</td><td>Fleck corneal dystrophy</td></tr><tr><td>98971</td><td>Posterior amorphous corneal dystrophy</td></tr><tr><td>98972</td><td>Central cloudy dystrophy of François</td></tr><tr><td>98973</td><td>Posterior polymorphous corneal dystrophy</td></tr><tr><td>98974</td><td>Fuchs endothelial corneal dystrophy</td></tr><tr><td>98976</td><td>Congenital glaucoma</td></tr><tr><td>98977</td><td>Juvenile glaucoma</td></tr><tr><td>98978</td><td>Axenfeld anomaly</td></tr><tr><td>98979</td><td>Chandler syndrome</td></tr><tr><td>98980</td><td>Cogan-Reese syndrome</td></tr><tr><td>98981</td><td>Essential iris atrophy</td></tr><tr><td>98984</td><td>Pulverulent cataract</td></tr><tr><td>98985</td><td>Early-onset sutural cataract</td></tr><tr><td>98988</td><td>Early-onset anterior polar cataract</td></tr><tr><td>98989</td><td>Cerulean cataract</td></tr><tr><td>98990</td><td>Coralliform cataract</td></tr><tr><td>98991</td><td>Early-onset nuclear cataract</td></tr><tr><td>98992</td><td>Early-onset partial cataract</td></tr><tr><td>98993</td><td>Early-onset posterior polar cataract</td></tr><tr><td>98994</td><td>Total early-onset cataract</td></tr><tr><td>98995</td><td>Early-onset zonular cataract</td></tr><tr><td>99000</td><td>Adult-onset foveomacular vitelliform dystrophy</td></tr><tr><td>99001</td><td>Butterfly-shaped pigment dystrophy</td></tr><tr><td>99002</td><td>Reticular dystrophy of the retinal pigment epithelium</td></tr><tr><td>99003</td><td>Multifocal pattern dystrophy simulating fundus flavimaculatus</td></tr><tr><td>99004</td><td>Fundus pulverulentus</td></tr><tr><td>99013</td><td>Spastic paraplegia type 7</td></tr><tr><td>99014</td><td>X-linked Charcot-Marie-Tooth disease type 5</td></tr><tr><td>99015</td><td>Spastic paraplegia type 2</td></tr><tr><td>99027</td><td>Adult-onset autosomal dominant leukodystrophy</td></tr><tr><td>99042</td><td>Congenitally uncorrected transposition of the great arteries with coarctation</td></tr><tr><td>99043</td><td>Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis</td></tr><tr><td>99045</td><td>Double outlet right ventricle with subpulmonary ventricular septal defect</td></tr><tr><td>99046</td><td>Double outlet right ventricle with non-committed subpulmonary ventricular septal defect</td></tr><tr><td>99048</td><td>Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome</td></tr><tr><td>99049</td><td>Pulmonary artery coming from patent ductus arteriosus</td></tr><tr><td>99050</td><td>Abnormal origin of right or left pulmonary artery from the aorta</td></tr><tr><td>99051</td><td>Discrete fixed membranous subaortic stenosis</td></tr><tr><td>99052</td><td>Discrete fibromuscular subaortic stenosis</td></tr><tr><td>99053</td><td>Tunnel subaortic stenosis</td></tr><tr><td>99054</td><td>Valvular pulmonary stenosis</td></tr><tr><td>99055</td><td>Congenital anomaly of the tricuspid valve chordae</td></tr><tr><td>99056</td><td>Parachute tricuspid valve</td></tr><tr><td>99057</td><td>Congenital mitral stenosis</td></tr><tr><td>99058</td><td>Hypoplasia of the mitral valve annulus</td></tr><tr><td>99059</td><td>Congenital supravalvular mitral ring</td></tr><tr><td>99060</td><td>Congenital unguarded mitral orifice</td></tr><tr><td>99061</td><td>Accessory mitral valve tissue</td></tr><tr><td>99062</td><td>Mitral valve agenesis</td></tr><tr><td>99063</td><td>Shone complex</td></tr><tr><td>99064</td><td>Straddling and/or overriding mitral valve</td></tr><tr><td>99067</td><td>Complete atrioventricular septal defect with ventricular hypoplasia</td></tr><tr><td>99068</td><td>Complete atrioventricular septal defect-tetralogy of Fallot</td></tr><tr><td>99070</td><td>Aorto-right ventricular tunnel</td></tr><tr><td>99071</td><td>Aorto-left ventricular tunnel</td></tr><tr><td>99072</td><td>Congenital patent ductus arteriosus aneurysm</td></tr><tr><td>99075</td><td>Encircling double aortic arch</td></tr><tr><td>99076</td><td>Persistent fifth aortic arch</td></tr><tr><td>99077</td><td>Kommerell diverticulum</td></tr><tr><td>99078</td><td>Neuhauser anomaly</td></tr><tr><td>99079</td><td>Cervical aortic arch</td></tr><tr><td>99081</td><td>Right aortic arch</td></tr><tr><td>99082</td><td>Dysphagia lusoria</td></tr><tr><td>99083</td><td>Pulmonary artery hypoplasia</td></tr><tr><td>99084</td><td>Peripheral pulmonary stenosis</td></tr><tr><td>99087</td><td>Coronary ostial stenosis or atresia</td></tr><tr><td>99089</td><td>Abnormal number of coronary ostia</td></tr><tr><td>99090</td><td>Malposition of a coronary ostium</td></tr><tr><td>99092</td><td>Interventricular septum aneurysm</td></tr><tr><td>99094</td><td>Laubry-Pezzi syndrome</td></tr><tr><td>99095</td><td>Congenital Gerbode defect</td></tr><tr><td>99098</td><td>Cor triatriatum dexter</td></tr><tr><td>99099</td><td>Cor triatriatum sinister</td></tr><tr><td>99100</td><td>Juxtaposition of the atrial appendages</td></tr><tr><td>99101</td><td>Ectasia of the right atrial appendage</td></tr><tr><td>99102</td><td>Ectasia of the left atrial appendage</td></tr><tr><td>99103</td><td>Atrial septal defect, ostium secundum type</td></tr><tr><td>99104</td><td>Atrial septal defect, coronary sinus type</td></tr><tr><td>99105</td><td>Atrial septal defect, sinus venosus type</td></tr><tr><td>99106</td><td>Atrial septal defect, ostium primum type</td></tr><tr><td>99107</td><td>Atrial septal aneurysm</td></tr><tr><td>99109</td><td>Persistent left superior vena cava connecting through coronary sinus to left-sided atrium</td></tr><tr><td>99110</td><td>Right superior vena cava connecting to left-sided atrium</td></tr><tr><td>99111</td><td>Persistent left superior vena cava connecting to the roof of left-sided atrium</td></tr><tr><td>99112</td><td>Absence of innominate vein</td></tr><tr><td>99113</td><td>Subaortic course of innominate vein</td></tr><tr><td>99114</td><td>Agenesis of the superior vena cava</td></tr><tr><td>99117</td><td>Coronary sinus stenosis</td></tr><tr><td>99118</td><td>Coronary sinus atresia</td></tr><tr><td>99119</td><td>Right inferior vena cava connecting to left-sided atrium</td></tr><tr><td>99120</td><td>Persistent eustachian valve</td></tr><tr><td>99121</td><td>Azygos continuation of the inferior vena cava</td></tr><tr><td>99122</td><td>Congenital stenosis of the inferior vena cava</td></tr><tr><td>99123</td><td>Inferior vena cava interruption without azygos continuation</td></tr><tr><td>99124</td><td>Congenital partial pulmonary venous return anomaly</td></tr><tr><td>99125</td><td>Congenital total pulmonary venous return anomaly</td></tr><tr><td>99126</td><td>Congenital pulmonary vein atresia</td></tr><tr><td>99129</td><td>Congenital complete agenesis of pericardium</td></tr><tr><td>99130</td><td>Congenital partial agenesis of pericardium</td></tr><tr><td>99131</td><td>Pleuro-pericardial cyst</td></tr><tr><td>99135</td><td>6-phosphogluconate dehydrogenase deficiency</td></tr><tr><td>99138</td><td>Hemolytic anemia due to erythrocyte adenosine deaminase overproduction</td></tr><tr><td>99139</td><td>Unstable hemoglobin disease</td></tr><tr><td>99141</td><td>Lymphedema-posterior choanal atresia syndrome</td></tr><tr><td>99147</td><td>Acquired von Willebrand syndrome</td></tr><tr><td>99169</td><td>Epiblepharon</td></tr><tr><td>99170</td><td>Tarsal kink syndrome</td></tr><tr><td>99171</td><td>Isolated congenital ectropion</td></tr><tr><td>99172</td><td>Euryblepharon</td></tr><tr><td>99176</td><td>Congenital eyelid retraction</td></tr><tr><td>99177</td><td>Isolated distichiasis</td></tr><tr><td>99179</td><td>Kandori fleck retina</td></tr><tr><td>99226</td><td>Monosomy X</td></tr><tr><td>99228</td><td>Mosaic monosomy X</td></tr><tr><td>99324</td><td>Paternal uniparental disomy of chromosome 13</td></tr><tr><td>99329</td><td>48,XYYY syndrome</td></tr><tr><td>99330</td><td>49,XYYYY syndrome</td></tr><tr><td>99361</td><td>Familial medullary thyroid carcinoma</td></tr><tr><td>99413</td><td>Turner syndrome due to structural X chromosome anomalies</td></tr><tr><td>99429</td><td>Complete androgen insensitivity syndrome</td></tr><tr><td>99642</td><td>Spondyloepimetaphyseal dysplasia, Handigodu type</td></tr><tr><td>99646</td><td>Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria</td></tr><tr><td>99657</td><td>Primary dystonia, DYT2 type</td></tr><tr><td>99672</td><td>Fried's tooth and nail syndrome</td></tr><tr><td>99688</td><td>Dermotrichic syndrome</td></tr><tr><td>99701</td><td>Mesial temporal lobe epilepsy with hippocampal sclerosis</td></tr><tr><td>99704</td><td>Early-onset obesity-hyperphagia-severe developmental delay syndrome</td></tr><tr><td>99710</td><td>Punctate acrokeratoderma freckle-like pigmentation</td></tr><tr><td>99718</td><td>Leber plus disease</td></tr><tr><td>99725</td><td>Pituitary gigantism</td></tr><tr><td>99731</td><td>Isolated sulfite oxidase deficiency</td></tr><tr><td>99732</td><td>Sulfite oxidase deficiency due to molybdenum cofactor deficiency</td></tr><tr><td>99734</td><td>Myotonia fluctuans</td></tr><tr><td>99735</td><td>Myotonia permanens</td></tr><tr><td>99736</td><td>Acetazolamide-responsive myotonia</td></tr><tr><td>99741</td><td>King-Denborough syndrome</td></tr><tr><td>99742</td><td>Amish lethal microcephaly</td></tr><tr><td>99745</td><td>Typhoid</td></tr><tr><td>99748</td><td>Pontiac fever</td></tr><tr><td>99749</td><td>Kostmann syndrome</td></tr><tr><td>99750</td><td>Atypical progressive supranuclear palsy syndrome</td></tr><tr><td>99756</td><td>Alveolar rhabdomyosarcoma</td></tr><tr><td>99757</td><td>Embryonal rhabdomyosarcoma</td></tr><tr><td>99771</td><td>Bifid uvula</td></tr><tr><td>99772</td><td>Cleft velum</td></tr><tr><td>99776</td><td>Mosaic trisomy 9</td></tr><tr><td>99789</td><td>Dentin dysplasia type I</td></tr><tr><td>99791</td><td>Dentin dysplasia type II</td></tr><tr><td>99792</td><td>Dentin dysplasia-sclerotic bones syndrome</td></tr><tr><td>99796</td><td>Subcortical band heterotopia</td></tr><tr><td>99797</td><td>Anodontia</td></tr><tr><td>99798</td><td>Oligodontia</td></tr><tr><td>99802</td><td>Hemimegalencephaly</td></tr><tr><td>99803</td><td>Haddad syndrome</td></tr><tr><td>99806</td><td>Oculootodental syndrome</td></tr><tr><td>99807</td><td>PEHO-like syndrome</td></tr><tr><td>99810</td><td>Familial porencephaly</td></tr><tr><td>99811</td><td>Neuronal intestinal pseudoobstruction</td></tr><tr><td>99812</td><td>LIG4 syndrome</td></tr><tr><td>99818</td><td>Turcot syndrome with polyposis</td></tr><tr><td>99819</td><td>Familial gestational hyperthyroidism</td></tr><tr><td>99824</td><td>Lassa fever</td></tr><tr><td>99825</td><td>Nipah virus disease</td></tr><tr><td>99826</td><td>Marburg hemorrhagic fever</td></tr><tr><td>99827</td><td>Crimean-Congo hemorrhagic fever</td></tr><tr><td>99828</td><td>Dengue fever</td></tr><tr><td>99829</td><td>Yellow fever</td></tr><tr><td>99832</td><td>Resistance to thyrotropin-releasing hormone syndrome</td></tr><tr><td>99842</td><td>Leukocyte adhesion deficiency type I</td></tr><tr><td>99843</td><td>Leukocyte adhesion deficiency type II</td></tr><tr><td>99844</td><td>Leukocyte adhesion deficiency type III</td></tr><tr><td>99845</td><td>Genetic recurrent myoglobinuria</td></tr><tr><td>99846</td><td>Autosomal dominant myoglobinuria</td></tr><tr><td>99849</td><td>Glycogen storage disease due to muscle beta-enolase deficiency</td></tr><tr><td>99852</td><td>Ravine syndrome</td></tr><tr><td>99853</td><td>Ovarioleukodystrophy</td></tr><tr><td>99854</td><td>Cree leukoencephalopathy</td></tr><tr><td>99856</td><td>Primary syringomyelia</td></tr><tr><td>99857</td><td>Secondary syringomyelia</td></tr><tr><td>99858</td><td>Idiopathic syringomyelia</td></tr><tr><td>99860</td><td>Precursor B-cell acute lymphoblastic leukemia</td></tr><tr><td>99861</td><td>Precursor T-cell acute lymphoblastic leukemia</td></tr><tr><td>99865</td><td>Spermatocytic seminoma</td></tr><tr><td>99867</td><td>Thymoma</td></tr><tr><td>99868</td><td>Thymic carcinoma</td></tr><tr><td>99869</td><td>Thymic neuroendocrine carcinoma</td></tr><tr><td>99879</td><td>Familial isolated hyperparathyroidism</td></tr><tr><td>99880</td><td>Hyperparathyroidism-jaw tumor syndrome</td></tr><tr><td>99885</td><td>Isolated permanent neonatal diabetes mellitus</td></tr><tr><td>99886</td><td>Transient neonatal diabetes mellitus</td></tr><tr><td>99887</td><td>Acute megakaryoblastic leukemia in children with Down syndrome</td></tr><tr><td>99889</td><td>Cushing syndrome due to ectopic ACTH secretion</td></tr><tr><td>99898</td><td>Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency</td></tr><tr><td>99901</td><td>Acyl-CoA dehydrogenase 9 deficiency</td></tr><tr><td>99903</td><td>Spirillary rat-bite fever</td></tr><tr><td>99905</td><td>Streptobacillary rat-bite fever</td></tr><tr><td>99906</td><td>Farmer's lung disease</td></tr><tr><td>99907</td><td>House allergic alveolitis</td></tr><tr><td>99908</td><td>Pigeon-breeder lung disease</td></tr><tr><td>99912</td><td>Ovarian dysgerminoma</td></tr><tr><td>99914</td><td>Gynandroblastoma</td></tr><tr><td>99915</td><td>Malignant granulosa cell tumor of the ovary</td></tr><tr><td>99916</td><td>Malignant Sertoli-Leydig cell tumor of the ovary</td></tr><tr><td>99917</td><td>Theca steroid-producing cell malignant tumor of ovary, not further specified</td></tr><tr><td>99918</td><td>Streptococcal toxic-shock syndrome</td></tr><tr><td>99919</td><td>Staphylococcal toxic-shock syndrome</td></tr><tr><td>99920</td><td>Acute graft versus host disease</td></tr><tr><td>99921</td><td>Chronic graft versus host disease</td></tr><tr><td>99922</td><td>Ocular cicatricial pemphigoid</td></tr><tr><td>99925</td><td>Invasive mole</td></tr><tr><td>99926</td><td>Gestational choriocarcinoma</td></tr><tr><td>99927</td><td>Hydatidiform mole</td></tr><tr><td>99928</td><td>Placental site trophoblastic tumor</td></tr><tr><td>99930</td><td>Secondary pulmonary hemosiderosis</td></tr><tr><td>99931</td><td>Idiopathic pulmonary hemosiderosis</td></tr><tr><td>99932</td><td>Heiner syndrome</td></tr><tr><td>99933</td><td>Pleuropulmonary blastoma type 1</td></tr><tr><td>99934</td><td>Pleuropulmonary blastoma type 2</td></tr><tr><td>99935</td><td>Pleuropulmonary blastoma type 3</td></tr><tr><td>99936</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2B</td></tr><tr><td>99937</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2C</td></tr><tr><td>99938</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2D</td></tr><tr><td>99939</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2E</td></tr><tr><td>99940</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2F</td></tr><tr><td>99941</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2G</td></tr><tr><td>99942</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2I</td></tr><tr><td>99943</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2J</td></tr><tr><td>99944</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2K</td></tr><tr><td>99945</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2L</td></tr><tr><td>99946</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2A1</td></tr><tr><td>99947</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2A2</td></tr><tr><td>99948</td><td>Charcot-Marie-Tooth disease type 4A</td></tr><tr><td>99949</td><td>Charcot-Marie-Tooth disease type 4C</td></tr><tr><td>99950</td><td>Charcot-Marie-Tooth disease type 4D</td></tr><tr><td>99951</td><td>Charcot-Marie-Tooth disease type 4E</td></tr><tr><td>99952</td><td>Charcot-Marie-Tooth disease type 4F</td></tr><tr><td>99953</td><td>Charcot-Marie-Tooth disease type 4G</td></tr><tr><td>99954</td><td>Charcot-Marie-Tooth disease type 4H</td></tr><tr><td>99955</td><td>Charcot-Marie-Tooth disease type 4B1</td></tr><tr><td>99956</td><td>Charcot-Marie-Tooth disease type 4B2</td></tr><tr><td>99960</td><td>Benign recurrent intrahepatic cholestasis type 1</td></tr><tr><td>99961</td><td>Benign recurrent intrahepatic cholestasis type 2</td></tr><tr><td>99965</td><td>O'Sullivan-McLeod syndrome</td></tr><tr><td>99966</td><td>Atypical teratoid rhabdoid tumor</td></tr><tr><td>99967</td><td>Myxoid/round cell liposarcoma</td></tr><tr><td>99969</td><td>Pleomorphic liposarcoma</td></tr><tr><td>99970</td><td>Dedifferentiated liposarcoma</td></tr><tr><td>99971</td><td>Well-differentiated liposarcoma</td></tr><tr><td>99976</td><td>Adenocarcinoma of the esophagus</td></tr><tr><td>99977</td><td>Squamous cell carcinoma of the esophagus</td></tr><tr><td>99978</td><td>Klatskin tumor</td></tr><tr><td>99981</td><td>Apnea of prematurity</td></tr><tr><td>99989</td><td>Intermediate DEND syndrome</td></tr><tr><td>99990</td><td>Brill-Zinsser disease</td></tr><tr><td>99991</td><td>Relapsing epidemic typhus</td></tr><tr><td>99994</td><td>Complex regional pain syndrome type 2</td></tr><tr><td>99995</td><td>Complex regional pain syndrome type 1</td></tr><tr><td>100000</td><td>Reticular perineurioma</td></tr><tr><td>100001</td><td>Sclerosing perineurioma</td></tr><tr><td>100002</td><td>Extraneural perineurioma</td></tr><tr><td>100003</td><td>Intraneural perineurioma</td></tr><tr><td>100006</td><td>ABeta amyloidosis, Dutch type</td></tr><tr><td>100008</td><td>ACys amyloidosis</td></tr><tr><td>100011</td><td>Lissencephaly with cerebellar hypoplasia type A</td></tr><tr><td>100012</td><td>Lissencephaly with cerebellar hypoplasia type B</td></tr><tr><td>100013</td><td>Lissencephaly with cerebellar hypoplasia type C</td></tr><tr><td>100014</td><td>Lissencephaly with cerebellar hypoplasia type D</td></tr><tr><td>100015</td><td>Lissencephaly with cerebellar hypoplasia type E</td></tr><tr><td>100016</td><td>Lissencephaly with cerebellar hypoplasia type F</td></tr><tr><td>100019</td><td>Myelodysplastic neoplasm with increased blasts type 1</td></tr><tr><td>100020</td><td>Myelodysplastic neoplasm with increased blasts type 2</td></tr><tr><td>100021</td><td>Primary plasmacytoma of the bone</td></tr><tr><td>100022</td><td>Extramedullary soft tissue plasmacytoma</td></tr><tr><td>100024</td><td>Mu-heavy chain disease</td></tr><tr><td>100025</td><td>Alpha-heavy chain disease</td></tr><tr><td>100026</td><td>Gamma-heavy chain disease</td></tr><tr><td>100031</td><td>Hypoplastic amelogenesis imperfecta</td></tr><tr><td>100032</td><td>Hypocalcified amelogenesis imperfecta</td></tr><tr><td>100033</td><td>Hypomaturation amelogenesis imperfecta</td></tr><tr><td>100034</td><td>Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism</td></tr><tr><td>100035</td><td>Solitary necrotic nodule of the liver</td></tr><tr><td>100043</td><td>Autosomal dominant intermediate Charcot-Marie-Tooth disease type A</td></tr><tr><td>100044</td><td>Autosomal dominant intermediate Charcot-Marie-Tooth disease type B</td></tr><tr><td>100045</td><td>Autosomal dominant intermediate Charcot-Marie-Tooth disease type C</td></tr><tr><td>100046</td><td>Autosomal dominant intermediate Charcot-Marie-Tooth disease type D</td></tr><tr><td>100047</td><td>Esophageal duplication cyst</td></tr><tr><td>100048</td><td>Tubular duplication of the esophagus</td></tr><tr><td>100050</td><td>Hereditary angioedema type 1</td></tr><tr><td>100051</td><td>Hereditary angioedema type 2</td></tr><tr><td>100054</td><td>F12-related hereditary angioedema with normal C1Inh</td></tr><tr><td>100055</td><td>Acquired angioedema type 2</td></tr><tr><td>100056</td><td>Acquired angioedema type 1</td></tr><tr><td>100057</td><td>Renin-angiotensin-aldosterone system-blocker-induced angioedema</td></tr><tr><td>100067</td><td>Waterhouse-Friderichsen syndrome</td></tr><tr><td>100069</td><td>Semantic dementia</td></tr><tr><td>100070</td><td>Progressive non-fluent aphasia</td></tr><tr><td>100071</td><td>Mosaic trisomy 3</td></tr><tr><td>100073</td><td>Neurogenic thoracic outlet syndrome</td></tr><tr><td>100075</td><td>Neuroendocrine tumor of stomach</td></tr><tr><td>100078</td><td>Ileal neuroendocrine tumor</td></tr><tr><td>100079</td><td>Neuroendocrine neoplasm of appendix</td></tr><tr><td>100080</td><td>Neuroendocrine tumor of the colon</td></tr><tr><td>100081</td><td>Neuroendocrine tumor of the rectum</td></tr><tr><td>100082</td><td>Neuroendocrine tumor of anal canal</td></tr><tr><td>100083</td><td>Laryngeal neuroendocrine tumor</td></tr><tr><td>100084</td><td>Middle ear neuroendocrine tumor</td></tr><tr><td>100085</td><td>Primary hepatic neuroendocrine carcinoma</td></tr><tr><td>100086</td><td>Gallbladder neuroendocrine tumor</td></tr><tr><td>100093</td><td>Carcinoid syndrome</td></tr><tr><td>100924</td><td>Porphyria due to ALA dehydratase deficiency</td></tr><tr><td>100973</td><td>FRAXE intellectual disability</td></tr><tr><td>100974</td><td>FRAXF syndrome</td></tr><tr><td>100976</td><td>Bathing suit ichthyosis</td></tr><tr><td>100978</td><td>Cloverleaf skull-asphyxiating thoracic dysplasia syndrome</td></tr><tr><td>100984</td><td>Autosomal dominant spastic paraplegia type 3</td></tr><tr><td>100985</td><td>Autosomal dominant spastic paraplegia type 4</td></tr><tr><td>100986</td><td>Autosomal recessive spastic paraplegia type 5A</td></tr><tr><td>100988</td><td>Autosomal dominant spastic paraplegia type 6</td></tr><tr><td>100989</td><td>Autosomal dominant spastic paraplegia type 8</td></tr><tr><td>100991</td><td>Autosomal dominant spastic paraplegia type 10</td></tr><tr><td>100993</td><td>Autosomal dominant spastic paraplegia type 12</td></tr><tr><td>100994</td><td>Autosomal dominant spastic paraplegia type 13</td></tr><tr><td>100995</td><td>Autosomal recessive spastic paraplegia type 14</td></tr><tr><td>100996</td><td>Autosomal recessive spastic paraplegia type 15</td></tr><tr><td>100997</td><td>X-linked spastic paraplegia type 16</td></tr><tr><td>100998</td><td>Autosomal dominant spastic paraplegia type 17</td></tr><tr><td>100999</td><td>Autosomal dominant spastic paraplegia type 19</td></tr><tr><td>101000</td><td>Autosomal recessive spastic paraplegia type 20</td></tr><tr><td>101001</td><td>Autosomal recessive spastic paraplegia type 21</td></tr><tr><td>101003</td><td>Autosomal recessive spastic paraplegia type 23</td></tr><tr><td>101004</td><td>Autosomal recessive spastic paraplegia type 24</td></tr><tr><td>101005</td><td>Autosomal recessive spastic paraplegia type 25</td></tr><tr><td>101006</td><td>Autosomal recessive spastic paraplegia type 26</td></tr><tr><td>101007</td><td>Autosomal recessive spastic paraplegia type 27</td></tr><tr><td>101008</td><td>Autosomal recessive spastic paraplegia type 28</td></tr><tr><td>101009</td><td>Autosomal dominant spastic paraplegia type 29</td></tr><tr><td>101010</td><td>Autosomal spastic paraplegia type 30</td></tr><tr><td>101011</td><td>Autosomal dominant spastic paraplegia type 31</td></tr><tr><td>101016</td><td>Romano-Ward syndrome</td></tr><tr><td>101023</td><td>Cleft hard palate</td></tr><tr><td>101028</td><td>Transaldolase deficiency</td></tr><tr><td>101029</td><td>Sub-cortical nodular heterotopia</td></tr><tr><td>101030</td><td>Subependymal nodular heterotopia</td></tr><tr><td>101039</td><td>Female restricted epilepsy with intellectual disability</td></tr><tr><td>101041</td><td>Familial hypofibrinogenemia</td></tr><tr><td>101043</td><td>Congenital aortic valve dysplasia</td></tr><tr><td>101046</td><td>Autosomal dominant epilepsy with auditory features</td></tr><tr><td>101049</td><td>Familial hypocalciuric hypercalcemia type 2</td></tr><tr><td>101050</td><td>Familial hypocalciuric hypercalcemia type 3</td></tr><tr><td>101063</td><td>Situs inversus totalis</td></tr><tr><td>101068</td><td>Congenital stromal corneal dystrophy</td></tr><tr><td>101070</td><td>Bilateral frontoparietal polymicrogyria</td></tr><tr><td>101071</td><td>Unilateral hemispheric polymicrogyria</td></tr><tr><td>101075</td><td>X-linked Charcot-Marie-Tooth disease type 1</td></tr><tr><td>101076</td><td>X-linked Charcot-Marie-Tooth disease type 2</td></tr><tr><td>101077</td><td>X-linked Charcot-Marie-Tooth disease type 3</td></tr><tr><td>101078</td><td>X-linked Charcot-Marie-Tooth disease type 4</td></tr><tr><td>101081</td><td>Charcot-Marie-Tooth disease type 1A</td></tr><tr><td>101082</td><td>Charcot-Marie-Tooth disease type 1B</td></tr><tr><td>101083</td><td>Charcot-Marie-Tooth disease type 1C</td></tr><tr><td>101084</td><td>Charcot-Marie-Tooth disease type 1D</td></tr><tr><td>101085</td><td>Charcot-Marie-Tooth disease type 1F</td></tr><tr><td>101088</td><td>X-linked hyper-IgM syndrome</td></tr><tr><td>101089</td><td>Hyper-IgM syndrome type 2</td></tr><tr><td>101090</td><td>Hyper-IgM syndrome type 3</td></tr><tr><td>101091</td><td>Hyper-IgM syndrome type 4</td></tr><tr><td>101092</td><td>Hyper-IgM syndrome type 5</td></tr><tr><td>101097</td><td>Autosomal recessive Charcot-Marie-Tooth disease with hoarseness</td></tr><tr><td>101101</td><td>Charcot-Marie-Tooth disease type 2B2</td></tr><tr><td>101102</td><td>Charcot-Marie-Tooth disease type 2H</td></tr><tr><td>101104</td><td>Marin-Amat syndrome</td></tr><tr><td>101108</td><td>Spinocerebellar ataxia type 23</td></tr><tr><td>101109</td><td>Spinocerebellar ataxia type 28</td></tr><tr><td>101110</td><td>Spinocerebellar ataxia type 20</td></tr><tr><td>101111</td><td>Spinocerebellar ataxia type 25</td></tr><tr><td>101112</td><td>Spinocerebellar ataxia type 26</td></tr><tr><td>101150</td><td>Autosomal recessive dopa-responsive dystonia</td></tr><tr><td>101206</td><td>Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome</td></tr><tr><td>101330</td><td>Porphyria cutanea tarda</td></tr><tr><td>101334</td><td>African tick typhus</td></tr><tr><td>101351</td><td>Familial isolated congenital asplenia</td></tr><tr><td>101685</td><td>Rare non-syndromic intellectual disability</td></tr><tr><td>101932</td><td>Anomaly of the mitral subvalvular apparatus</td></tr><tr><td>102379</td><td>Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent</td></tr><tr><td>102381</td><td>Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor</td></tr><tr><td>102724</td><td>Acute myeloid leukemia with t(8;21)(q22;q22) translocation</td></tr><tr><td>103907</td><td>Chronic diarrhea due to glucoamylase deficiency</td></tr><tr><td>103908</td><td>Congenital sodium diarrhea</td></tr><tr><td>103909</td><td>Trehalase deficiency</td></tr><tr><td>103910</td><td>Congenital enterocyte heparan sulfate deficiency</td></tr><tr><td>103918</td><td>Tropical pancreatitis</td></tr><tr><td>103920</td><td>Undetermined colitis</td></tr><tr><td>104075</td><td>Adenocarcinoma of the small intestine</td></tr><tr><td>104076</td><td>Leiomyosarcoma of small intestine</td></tr><tr><td>104077</td><td>Myopathic intestinal pseudoobstruction</td></tr><tr><td>104078</td><td>Unclassified intestinal pseudoobstruction</td></tr><tr><td>137577</td><td>Neonatal hypoxic and ischemic brain injury</td></tr><tr><td>137583</td><td>Vulvar intraepithelial neoplasia</td></tr><tr><td>137593</td><td>Infectious epithelial keratitis</td></tr><tr><td>137596</td><td>Neurotrophic keratopathy</td></tr><tr><td>137599</td><td>Herpes simplex virus stromal keratitis</td></tr><tr><td>137602</td><td>Corneal endotheliitis</td></tr><tr><td>137605</td><td>Legius syndrome</td></tr><tr><td>137608</td><td>Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome</td></tr><tr><td>137617</td><td>Nephrogenic systemic fibrosis</td></tr><tr><td>137622</td><td>Intractable diarrhea-choanal atresia-eye anomalies syndrome</td></tr><tr><td>137625</td><td>Glycogen storage disease due to muscle and heart glycogen synthase deficiency</td></tr><tr><td>137628</td><td>Cardiac anomalies-heterotaxy syndrome</td></tr><tr><td>137631</td><td>Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome</td></tr><tr><td>137634</td><td>Overgrowth-macrocephaly-facial dysmorphism syndrome</td></tr><tr><td>137639</td><td>Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome</td></tr><tr><td>137667</td><td>Capillary malformation-arteriovenous malformation</td></tr><tr><td>137672</td><td>Pellucid marginal degeneration</td></tr><tr><td>137675</td><td>Histiocytoid cardiomyopathy</td></tr><tr><td>137678</td><td>Spondyloepiphyseal dysplasia with metatarsal shortening</td></tr><tr><td>137681</td><td>Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1</td></tr><tr><td>137686</td><td>Asherman syndrome</td></tr><tr><td>137698</td><td>Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk</td></tr><tr><td>137754</td><td>Aminoacylase 1 deficiency</td></tr><tr><td>137776</td><td>Lethal congenital contracture syndrome type 2</td></tr><tr><td>137783</td><td>Lethal congenital contracture syndrome type 3</td></tr><tr><td>137810</td><td>Nodular cutaneous amyloidosis</td></tr><tr><td>137814</td><td>Macular amyloidosis</td></tr><tr><td>137817</td><td>Arachnoiditis</td></tr><tr><td>137820</td><td>Extrapelvic endometriosis</td></tr><tr><td>137831</td><td>X-linked intellectual disability-cerebellar hypoplasia syndrome</td></tr><tr><td>137834</td><td>Frank-Ter Haar syndrome</td></tr><tr><td>137839</td><td>Lemierre syndrome</td></tr><tr><td>137867</td><td>Madras motor neuron disease</td></tr><tr><td>137888</td><td>Auriculocondylar syndrome</td></tr><tr><td>137893</td><td>Male infertility due to large-headed multiflagellar polyploid spermatozoa</td></tr><tr><td>137898</td><td>Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome</td></tr><tr><td>137908</td><td>Hypotonia with lactic acidemia and hyperammonemia</td></tr><tr><td>137914</td><td>Choanal atresia</td></tr><tr><td>137917</td><td>Choanal atresia, unilateral</td></tr><tr><td>137920</td><td>Choanal atresia, bilateral</td></tr><tr><td>137926</td><td>Primary laryngeal lymphangioma</td></tr><tr><td>137929</td><td>Neonatal brainstem dysfunction</td></tr><tr><td>137932</td><td>Congenital laryngeal palsy</td></tr><tr><td>137935</td><td>Airway infantile hemangioma</td></tr><tr><td>139396</td><td>X-linked cerebral adrenoleukodystrophy</td></tr><tr><td>139399</td><td>Adrenomyeloneuropathy</td></tr><tr><td>139402</td><td>Drug reaction with eosinophilia and systemic symptoms</td></tr><tr><td>139406</td><td>Encephalopathy due to prosaposin deficiency</td></tr><tr><td>139411</td><td>Carney triad</td></tr><tr><td>139414</td><td>Congenital panfollicular nevus</td></tr><tr><td>139417</td><td>Acute transverse myelitis</td></tr><tr><td>139423</td><td>Idiopathic acute transverse myelitis</td></tr><tr><td>139426</td><td>Perioral myoclonia with absences</td></tr><tr><td>139431</td><td>Epilepsy with eyelid myoclonia</td></tr><tr><td>139436</td><td>Multicentric reticulohistiocytosis</td></tr><tr><td>139441</td><td>Hypomyelination with atrophy of basal ganglia and cerebellum</td></tr><tr><td>139444</td><td>Leukoencephalopathy with bilateral anterior temporal lobe cysts</td></tr><tr><td>139447</td><td>Progressive cavitating leukoencephalopathy</td></tr><tr><td>139450</td><td>Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome</td></tr><tr><td>139455</td><td>Autosomal recessive bestrophinopathy</td></tr><tr><td>139466</td><td>SERKAL syndrome</td></tr><tr><td>139471</td><td>Microphthalmia with brain and digit anomalies</td></tr><tr><td>139474</td><td>17q11.2 microduplication syndrome</td></tr><tr><td>139480</td><td>Autosomal recessive spastic paraplegia type 39</td></tr><tr><td>139485</td><td>Autosomal recessive ataxia due to ubiquinone deficiency</td></tr><tr><td>139507</td><td>Dietary iron overload disease</td></tr><tr><td>139512</td><td>Neuropathy with hearing impairment</td></tr><tr><td>139515</td><td>Charcot-Marie-Tooth disease type 4J</td></tr><tr><td>139518</td><td>Distal hereditary motor neuropathy type 1</td></tr><tr><td>139525</td><td>Distal hereditary motor neuropathy type 2</td></tr><tr><td>139536</td><td>Distal hereditary motor neuropathy type 5</td></tr><tr><td>139547</td><td>Distal spinal muscular atrophy type 3</td></tr><tr><td>139552</td><td>Distal hereditary motor neuropathy, Jerash type</td></tr><tr><td>139557</td><td>X-linked distal spinal muscular atrophy type 3</td></tr><tr><td>139564</td><td>Hereditary sensory and autonomic neuropathy type 1B</td></tr><tr><td>139573</td><td>Hereditary sensory and autonomic neuropathy with deafness and global delay</td></tr><tr><td>139578</td><td>Mutilating hereditary sensory neuropathy with spastic paraplegia</td></tr><tr><td>139583</td><td>X-linked hereditary sensory and autonomic neuropathy with deafness</td></tr><tr><td>139589</td><td>Distal hereditary motor neuropathy type 7</td></tr><tr><td>140286</td><td>Secondary hypoparathyroidism due to impaired parathormon secretion</td></tr><tr><td>140436</td><td>Primary intraosseous venous malformation</td></tr><tr><td>140481</td><td>Autosomal dominant slowed nerve conduction velocity</td></tr><tr><td>140896</td><td>Severe acute respiratory syndrome</td></tr><tr><td>140905</td><td>Hyperlipidemia due to hepatic triacylglycerol lipase deficiency</td></tr><tr><td>140908</td><td>Brachydactyly type B2</td></tr><tr><td>140917</td><td>Stapes ankylosis with broad thumbs and toes</td></tr><tr><td>140922</td><td>Titin-related limb-girdle muscular dystrophy R10</td></tr><tr><td>140927</td><td>Benign familial neonatal-infantile seizures</td></tr><tr><td>140933</td><td>Linear atrophoderma of Moulin</td></tr><tr><td>140936</td><td>Lelis syndrome</td></tr><tr><td>140941</td><td>Short stature due to primary acid-labile subunit deficiency</td></tr><tr><td>140944</td><td>CLOVES syndrome</td></tr><tr><td>140949</td><td>Low-flow priapism</td></tr><tr><td>140952</td><td>Syndactyly-telecanthus-anogenital and renal malformations syndrome</td></tr><tr><td>140957</td><td>Autosomal dominant macrothrombocytopenia</td></tr><tr><td>140963</td><td>Bilateral microtia-deafness-cleft palate syndrome</td></tr><tr><td>140966</td><td>Palmoplantar keratoderma, Nagashima type</td></tr><tr><td>140969</td><td>Saldino-Mainzer syndrome</td></tr><tr><td>140976</td><td>RHYNS syndrome</td></tr><tr><td>140989</td><td>Primary angiitis of the central nervous system</td></tr><tr><td>141000</td><td>Orofaciodigital syndrome type 11</td></tr><tr><td>141007</td><td>Orofaciodigital syndrome type 9</td></tr><tr><td>141013</td><td>First branchial cleft anomaly</td></tr><tr><td>141022</td><td>Second branchial cleft anomaly</td></tr><tr><td>141030</td><td>Third branchial cleft anomaly</td></tr><tr><td>141037</td><td>Fourth branchial cleft anomaly</td></tr><tr><td>141046</td><td>Cervical dermoid cyst</td></tr><tr><td>141051</td><td>Facial dermoid cyst</td></tr><tr><td>141061</td><td>Commissural lip fistula</td></tr><tr><td>141064</td><td>Lower lip fistula</td></tr><tr><td>141067</td><td>Cervicofacial fibrochondroma</td></tr><tr><td>141071</td><td>Digestive duplication cyst of the tongue</td></tr><tr><td>141074</td><td>External auditory canal aplasia/hypoplasia</td></tr><tr><td>141077</td><td>Epignathus</td></tr><tr><td>141083</td><td>Nasolacrimal duct cyst</td></tr><tr><td>141091</td><td>Polyrrhinia</td></tr><tr><td>141096</td><td>Supernumerary nostril</td></tr><tr><td>141099</td><td>Proboscis lateralis</td></tr><tr><td>141103</td><td>Nasal dermoid cyst</td></tr><tr><td>141107</td><td>Nasopharyngeal teratoma</td></tr><tr><td>141112</td><td>Nasal glial heterotopia</td></tr><tr><td>141115</td><td>Nasal ganglioglioma</td></tr><tr><td>141118</td><td>Nasal encephalocele</td></tr><tr><td>141121</td><td>Congenital subglottic stenosis</td></tr><tr><td>141124</td><td>Congenital laryngeal cyst</td></tr><tr><td>141127</td><td>Congenital tracheal stenosis</td></tr><tr><td>141132</td><td>Oculo-auriculo-vertebral spectrum</td></tr><tr><td>141145</td><td>Hemifacial hyperplasia</td></tr><tr><td>141148</td><td>Hemifacial myohyperplasia</td></tr><tr><td>141152</td><td>Isolated congenital hypoglossia/aglossia</td></tr><tr><td>141163</td><td>Glossopalatine ankylosis</td></tr><tr><td>141168</td><td>Frontonasal arteriovenous malformation</td></tr><tr><td>141171</td><td>Maxillary arteriovenous malformation</td></tr><tr><td>141174</td><td>Mandibular arteriovenous malformation</td></tr><tr><td>141179</td><td>Non-involuting congenital hemangioma</td></tr><tr><td>141184</td><td>Rapidly involuting congenital hemangioma</td></tr><tr><td>141194</td><td>Cerebrofacial arteriovenous metameric syndrome type 1</td></tr><tr><td>141199</td><td>Cerebrofacial arteriovenous metameric syndrome type 3</td></tr><tr><td>141209</td><td>Diffuse lymphatic malformation</td></tr><tr><td>141214</td><td>Isolated congenital syngnathia</td></tr><tr><td>141219</td><td>Nasal dorsum fistula</td></tr><tr><td>141239</td><td>Median cleft of the upper lip and maxilla</td></tr><tr><td>141242</td><td>Paramedian nasal cleft</td></tr><tr><td>141258</td><td>Tessier number 4 facial cleft</td></tr><tr><td>141261</td><td>Tessier number 5 facial cleft</td></tr><tr><td>141265</td><td>Tessier number 6 facial cleft</td></tr><tr><td>141276</td><td>Tessier number 7 facial cleft</td></tr><tr><td>141288</td><td>Midline cervical cleft</td></tr><tr><td>141291</td><td>Cleft lip and alveolus</td></tr><tr><td>141333</td><td>Biemond syndrome type 2</td></tr><tr><td>155838</td><td>Pinnae fistula or cyst</td></tr><tr><td>155878</td><td>Submucosal cleft palate</td></tr><tr><td>155884</td><td>Coloboma of superior eyelid</td></tr><tr><td>155889</td><td>Coloboma of inferior eyelid</td></tr><tr><td>156728</td><td>Spondyloepimetaphyseal dysplasia, matrilin-3 type</td></tr><tr><td>156731</td><td>Dyssegmental dysplasia, Rolland-Desbuquois type</td></tr><tr><td>157215</td><td>Hereditary hypophosphatemic rickets with hypercalciuria</td></tr><tr><td>157713</td><td>Congenital or early infantile CACH syndrome</td></tr><tr><td>157716</td><td>Late infantile CACH syndrome</td></tr><tr><td>157719</td><td>Juvenile or adult CACH syndrome</td></tr><tr><td>157769</td><td>Situs ambiguus</td></tr><tr><td>157791</td><td>Epithelioid hemangioendothelioma</td></tr><tr><td>157794</td><td>Hereditary mixed polyposis syndrome</td></tr><tr><td>157798</td><td>Serrated polyposis syndrome</td></tr><tr><td>157801</td><td>Mesoaxial synostotic syndactyly with phalangeal reduction</td></tr><tr><td>157808</td><td>Isolated pseudoarthrosis of the limbs</td></tr><tr><td>157820</td><td>Cold-induced sweating syndrome</td></tr><tr><td>157823</td><td>Klüver-Bucy syndrome</td></tr><tr><td>157826</td><td>Congenital epulis</td></tr><tr><td>157832</td><td>Craniorhiny</td></tr><tr><td>157835</td><td>Paroxysmal hemicrania</td></tr><tr><td>157846</td><td>Neuroferritinopathy</td></tr><tr><td>157850</td><td>Pantothenate kinase-associated neurodegeneration</td></tr><tr><td>157941</td><td>Huntington disease-like 1</td></tr><tr><td>157946</td><td>Huntington disease-like 3</td></tr><tr><td>157949</td><td>Combined immunodeficiency with granulomatosis</td></tr><tr><td>157954</td><td>ANE syndrome</td></tr><tr><td>157962</td><td>Oculoauricular syndrome, Schorderet type</td></tr><tr><td>157965</td><td>SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome</td></tr><tr><td>157973</td><td>Congenital muscular dystrophy due to LMNA mutation</td></tr><tr><td>157991</td><td>Generalized eruptive histiocytosis</td></tr><tr><td>157997</td><td>Benign cephalic histiocytosis</td></tr><tr><td>158000</td><td>Juvenile xanthogranuloma</td></tr><tr><td>158003</td><td>Xanthoma disseminatum</td></tr><tr><td>158008</td><td>Papular xanthoma</td></tr><tr><td>158011</td><td>Necrobiotic xanthogranuloma</td></tr><tr><td>158014</td><td>Rosaï-Dorfman disease</td></tr><tr><td>158019</td><td>Indeterminate cell histiocytosis</td></tr><tr><td>158022</td><td>Progressive nodular histiocytosis</td></tr><tr><td>158025</td><td>Hereditary progressive mucinous histiocytosis</td></tr><tr><td>158029</td><td>Sea-blue histiocytosis</td></tr><tr><td>158048</td><td>Hemophagocytic syndrome associated with an infection</td></tr><tr><td>158057</td><td>Acquired hemophagocytic lymphohistiocytosis associated with malignant disease</td></tr><tr><td>158061</td><td>Macrophage activation syndrome</td></tr><tr><td>158668</td><td>Ectodermal dysplasia-skin fragility syndrome</td></tr><tr><td>158673</td><td>Localized dystrophic epidermolysis bullosa, acral form</td></tr><tr><td>158676</td><td>Localized dystrophic epidermolysis bullosa, nails only</td></tr><tr><td>158681</td><td>Epidermolysis bullosa simplex with circinate migratory erythema</td></tr><tr><td>158684</td><td>Epidermolysis bullosa simplex with pyloric atresia</td></tr><tr><td>158687</td><td>Lethal acantholytic erosive disorder</td></tr><tr><td>158766</td><td>Typical urticaria pigmentosa</td></tr><tr><td>158769</td><td>Plaque-form urticaria pigmentosa</td></tr><tr><td>158772</td><td>Nodular urticaria pigmentosa</td></tr><tr><td>158775</td><td>Smoldering systemic mastocytosis</td></tr><tr><td>158778</td><td>Isolated bone marrow mastocytosis</td></tr><tr><td>160148</td><td>Cap polyposis</td></tr><tr><td>162516</td><td>Isolated congenital nasal pyriform aperture stenosis</td></tr><tr><td>162526</td><td>Isolated congenital auditory ossicle malformation</td></tr><tr><td>163525</td><td>Subacute cutaneous lupus erythematosus</td></tr><tr><td>163596</td><td>Hb Bart's hydrops fetalis</td></tr><tr><td>163634</td><td>Maffucci syndrome</td></tr><tr><td>163649</td><td>Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome</td></tr><tr><td>163654</td><td>Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome</td></tr><tr><td>163662</td><td>Spondyloepiphyseal dysplasia, Reardon type</td></tr><tr><td>163665</td><td>Spondyloepiphyseal dysplasia tarda, Kohn type</td></tr><tr><td>163668</td><td>Spondyloepiphyseal dysplasia, MacDermot type</td></tr><tr><td>163681</td><td>CNTNAP2-related developmental and epileptic encephalopathy</td></tr><tr><td>163684</td><td>Leukoencephalopathy-dystonia-motor neuropathy syndrome</td></tr><tr><td>163690</td><td>Hypotonia-cystinuria syndrome</td></tr><tr><td>163693</td><td>2p21 microdeletion syndrome</td></tr><tr><td>163696</td><td>Action myoclonus-renal failure syndrome</td></tr><tr><td>163699</td><td>Alveolar soft tissue sarcoma</td></tr><tr><td>163703</td><td>Febrile infection-related epilepsy syndrome</td></tr><tr><td>163708</td><td>Cryptogenic late-onset epileptic spasms</td></tr><tr><td>163717</td><td>Benign familial mesial temporal lobe epilepsy</td></tr><tr><td>163721</td><td>Rolandic epilepsy-speech dyspraxia syndrome</td></tr><tr><td>163727</td><td>Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome</td></tr><tr><td>163746</td><td>Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease</td></tr><tr><td>163921</td><td>Posttransplant acute limbic encephalitis</td></tr><tr><td>163927</td><td>Pustulosis palmaris et plantaris</td></tr><tr><td>163931</td><td>Acrodermatitis continua of Hallopeau</td></tr><tr><td>163934</td><td>Atopic keratoconjunctivitis</td></tr><tr><td>163937</td><td>X-linked intellectual disability, Najm type</td></tr><tr><td>163956</td><td>X-linked intellectual disability, Nascimento type</td></tr><tr><td>163961</td><td>X-linked cerebral-cerebellar-coloboma syndrome</td></tr><tr><td>163966</td><td>X-linked dominant chondrodysplasia, Chassaing-Lacombe type</td></tr><tr><td>163971</td><td>X-linked intellectual disability, Cilliers type</td></tr><tr><td>163976</td><td>X-linked intellectual disability, Van Esch type</td></tr><tr><td>163979</td><td>X-linked intellectual disability-craniofacioskeletal syndrome</td></tr><tr><td>163985</td><td>Hyperekplexia-epilepsy syndrome</td></tr><tr><td>164726</td><td>Acute myeloid leukemia and myelodysplastic syndromes related to radiation</td></tr><tr><td>164736</td><td>Familial advanced sleep-phase syndrome</td></tr><tr><td>165805</td><td>Familial mesial temporal lobe epilepsy with febrile seizures</td></tr><tr><td>165955</td><td>Wound myiasis</td></tr><tr><td>165958</td><td>Cavitary myiasis</td></tr><tr><td>165991</td><td>Exercise-induced hyperinsulinism</td></tr><tr><td>166002</td><td>Multiple epiphyseal dysplasia due to collagen 9 anomaly</td></tr><tr><td>166016</td><td>Multiple epiphyseal dysplasia, Lowry type</td></tr><tr><td>166024</td><td>Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome</td></tr><tr><td>166029</td><td>Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome</td></tr><tr><td>166032</td><td>Multiple epiphyseal dysplasia-miniepiphyses syndrome</td></tr><tr><td>166035</td><td>Brachydactyly-short stature-retinitis pigmentosa syndrome</td></tr><tr><td>166038</td><td>Metaphyseal chondrodysplasia, Kaitila type</td></tr><tr><td>166063</td><td>Pontocerebellar hypoplasia type 4</td></tr><tr><td>166073</td><td>Pontocerebellar hypoplasia type 6</td></tr><tr><td>166078</td><td>Von Willebrand disease type 1</td></tr><tr><td>166081</td><td>Von Willebrand disease type 2</td></tr><tr><td>166084</td><td>Von Willebrand disease type 2A</td></tr><tr><td>166087</td><td>Von Willebrand disease type 2B</td></tr><tr><td>166090</td><td>Von Willebrand disease type 2M</td></tr><tr><td>166093</td><td>Von Willebrand disease type 2N</td></tr><tr><td>166096</td><td>Von Willebrand disease type 3</td></tr><tr><td>166100</td><td>Autosomal dominant otospondylomegaepiphyseal dysplasia</td></tr><tr><td>166105</td><td>FASTKD2-related infantile mitochondrial encephalomyopathy</td></tr><tr><td>166108</td><td>Intellectual disability, Birk-Barel type</td></tr><tr><td>166113</td><td>Bazex syndrome</td></tr><tr><td>166119</td><td>Isolated osteopoikilosis</td></tr><tr><td>166260</td><td>Dentinogenesis imperfecta type 2</td></tr><tr><td>166265</td><td>Dentinogenesis imperfecta type 3</td></tr><tr><td>166272</td><td>Odontochondrodysplasia</td></tr><tr><td>166277</td><td>Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia</td></tr><tr><td>166282</td><td>Familial sick sinus syndrome</td></tr><tr><td>166286</td><td>Porokeratotic eccrine ostial and dermal duct nevus</td></tr><tr><td>166291</td><td>Dirofilariasis</td></tr><tr><td>166299</td><td>Benign partial epilepsy of infancy with complex partial seizures</td></tr><tr><td>166302</td><td>Benign partial epilepsy with secondarily generalized seizures in infancy</td></tr><tr><td>166305</td><td>Benign infantile seizures associated with mild gastroenteritis</td></tr><tr><td>166308</td><td>Benign infantile focal epilepsy with midline spikes and waves during sleep</td></tr><tr><td>166409</td><td>Photosensitive epilepsy</td></tr><tr><td>166412</td><td>Hot water reflex epilepsy</td></tr><tr><td>166415</td><td>Audiogenic seizures</td></tr><tr><td>166418</td><td>Eating reflex epilepsy</td></tr><tr><td>166421</td><td>Orgasm-induced seizures</td></tr><tr><td>166424</td><td>Thinking seizures</td></tr><tr><td>166427</td><td>Startle epilepsy</td></tr><tr><td>166430</td><td>Micturation-induced seizures</td></tr><tr><td>166433</td><td>Reading seizures</td></tr><tr><td>167635</td><td>Scleromyxedema</td></tr><tr><td>168443</td><td>Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome</td></tr><tr><td>168451</td><td>Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome</td></tr><tr><td>168454</td><td>Spondyloepimetaphyseal dysplasia, Geneviève type</td></tr><tr><td>168544</td><td>Spondylometaphyseal dysplasia, Golden type</td></tr><tr><td>168549</td><td>Axial spondylometaphyseal dysplasia</td></tr><tr><td>168552</td><td>Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome</td></tr><tr><td>168555</td><td>Spondylometaphyseal dysplasia, A4 type</td></tr><tr><td>168558</td><td>46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency</td></tr><tr><td>168563</td><td>46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome</td></tr><tr><td>168566</td><td>Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3</td></tr><tr><td>168569</td><td>H syndrome</td></tr><tr><td>168572</td><td>Native American myopathy</td></tr><tr><td>168577</td><td>Hereditary cryohydrocytosis with reduced stomatin</td></tr><tr><td>168583</td><td>Hereditary North American Indian childhood cirrhosis</td></tr><tr><td>168588</td><td>Hyperandrogenism due to cortisone reductase deficiency</td></tr><tr><td>168593</td><td>Sudden infant death-dysgenesis of the testes syndrome</td></tr><tr><td>168598</td><td>Methionine adenosyltransferase I/III deficiency</td></tr><tr><td>168601</td><td>Congenital enteropathy due to enteropeptidase deficiency</td></tr><tr><td>168606</td><td>Seborrhea-like dermatitis with psoriasiform elements</td></tr><tr><td>168612</td><td>Congenital deficiency in alpha-fetoprotein</td></tr><tr><td>168615</td><td>Hereditary persistence of alpha-fetoprotein</td></tr><tr><td>168621</td><td>Dysplasia of head of femur, Meyer type</td></tr><tr><td>168624</td><td>Familial scaphocephaly syndrome, McGillivray type</td></tr><tr><td>168629</td><td>Autosomal thrombocytopenia with normal platelets</td></tr><tr><td>168632</td><td>Generalized basaloid follicular hamartoma syndrome</td></tr><tr><td>168782</td><td>Childhood disintegrative disorder</td></tr><tr><td>168796</td><td>Heart-hand syndrome, Slovenian type</td></tr><tr><td>168811</td><td>Malignant peritoneal mesothelioma</td></tr><tr><td>168816</td><td>Peritoneal inclusion cyst</td></tr><tr><td>168829</td><td>Primary peritoneal carcinoma</td></tr><tr><td>168940</td><td>Chronic eosinophilic leukemia</td></tr><tr><td>168947</td><td>Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement</td></tr><tr><td>168950</td><td>Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement</td></tr><tr><td>168953</td><td>Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement</td></tr><tr><td>168960</td><td>Refractory anemia with excess blasts in transformation</td></tr><tr><td>168966</td><td>Composite lymphoma</td></tr><tr><td>168984</td><td>CLAPO syndrome</td></tr><tr><td>168999</td><td>Malignant melanoma of the mucosa</td></tr><tr><td>169079</td><td>Cernunnos-XLF deficiency</td></tr><tr><td>169082</td><td>Combined immunodeficiency due to CD3gamma deficiency</td></tr><tr><td>169085</td><td>Susceptibility to respiratory infections associated with CD8alpha chain mutation</td></tr><tr><td>169090</td><td>Combined immunodeficiency due to CRAC channel dysfunction</td></tr><tr><td>169095</td><td>Severe combined immunodeficiency due to FOXN1 deficiency</td></tr><tr><td>169100</td><td>Immunodeficiency due to CD25 deficiency</td></tr><tr><td>169105</td><td>Good syndrome</td></tr><tr><td>169110</td><td>Immunoglobulin heavy chain deficiency</td></tr><tr><td>169139</td><td>Transient hypogammaglobulinemia of infancy</td></tr><tr><td>169142</td><td>Recurrent infections due to specific granule deficiency</td></tr><tr><td>169147</td><td>Immunodeficiency due to a classical component pathway complement deficiency</td></tr><tr><td>169150</td><td>Immunodeficiency due to a late component of complement deficiency</td></tr><tr><td>169154</td><td>T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency</td></tr><tr><td>169157</td><td>T-B+ severe combined immunodeficiency due to CD45 deficiency</td></tr><tr><td>169160</td><td>T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta</td></tr><tr><td>169186</td><td>Autosomal recessive centronuclear myopathy</td></tr><tr><td>169189</td><td>Autosomal dominant centronuclear myopathy</td></tr><tr><td>169464</td><td>Primary CD59 deficiency</td></tr><tr><td>169467</td><td>Recurrent Neisseria infections due to factor D deficiency</td></tr><tr><td>169793</td><td>Severe hemophilia B</td></tr><tr><td>169796</td><td>Moderate hemophilia B</td></tr><tr><td>169799</td><td>Mild hemophilia B</td></tr><tr><td>169802</td><td>Severe hemophilia A</td></tr><tr><td>169805</td><td>Moderate hemophilia A</td></tr><tr><td>169808</td><td>Mild hemophilia A</td></tr><tr><td>171220</td><td>Rectal duplication</td></tr><tr><td>171430</td><td>Severe congenital nemaline myopathy</td></tr><tr><td>171433</td><td>Intermediate nemaline myopathy</td></tr><tr><td>171436</td><td>Typical nemaline myopathy</td></tr><tr><td>171439</td><td>Childhood-onset nemaline myopathy</td></tr><tr><td>171442</td><td>Adult-onset nemaline myopathy</td></tr><tr><td>171445</td><td>Muscle filaminopathy</td></tr><tr><td>171607</td><td>X-linked spastic paraplegia type 34</td></tr><tr><td>171612</td><td>Autosomal dominant spastic paraplegia type 37</td></tr><tr><td>171617</td><td>Autosomal dominant spastic paraplegia type 38</td></tr><tr><td>171622</td><td>Autosomal recessive spastic paraplegia type 32</td></tr><tr><td>171629</td><td>Autosomal recessive spastic paraplegia type 35</td></tr><tr><td>171673</td><td>Limbal stem cell deficiency</td></tr><tr><td>171680</td><td>Lissencephaly due to TUBA1A mutation</td></tr><tr><td>171684</td><td>Idiopathic bilateral vestibulopathy</td></tr><tr><td>171690</td><td>Metabolic myopathy due to lactate transporter defect</td></tr><tr><td>171695</td><td>Parkinsonian-pyramidal syndrome</td></tr><tr><td>171700</td><td>Diffuse panbronchiolitis</td></tr><tr><td>171703</td><td>Microcephaly-polymicrogyria-corpus callosum agenesis syndrome</td></tr><tr><td>171706</td><td>Short stature-delayed bone age due to thyroid hormone metabolism deficiency</td></tr><tr><td>171709</td><td>Male infertility due to globozoospermia</td></tr><tr><td>171719</td><td>Cutis laxa-Marfanoid syndrome</td></tr><tr><td>171723</td><td>White sponge nevus</td></tr><tr><td>171829</td><td>6q16 microdeletion syndrome</td></tr><tr><td>171839</td><td>Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome</td></tr><tr><td>171844</td><td>Blindness-scoliosis-arachnodactyly syndrome</td></tr><tr><td>171848</td><td>Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome</td></tr><tr><td>171851</td><td>MEDNIK syndrome</td></tr><tr><td>171863</td><td>Autosomal dominant spastic paraplegia type 42</td></tr><tr><td>171866</td><td>Spondyloepimetaphyseal dysplasia, aggrecan type</td></tr><tr><td>171871</td><td>Renal pseudohypoaldosteronism type 1</td></tr><tr><td>171876</td><td>Generalized pseudohypoaldosteronism type 1</td></tr><tr><td>171881</td><td>Cap myopathy</td></tr><tr><td>171886</td><td>Cylindrical spirals myopathy</td></tr><tr><td>171889</td><td>Myopathy with hexagonally cross-linked tubular arrays</td></tr><tr><td>171929</td><td>Trisomy 10p</td></tr><tr><td>177901</td><td>Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1</td></tr><tr><td>177904</td><td>Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2</td></tr><tr><td>177907</td><td>Prader-Willi syndrome due to translocation</td></tr><tr><td>177910</td><td>Prader-Willi syndrome due to imprinting mutation</td></tr><tr><td>177926</td><td>Bleeding disorder in hemophilia A carriers</td></tr><tr><td>177929</td><td>Bleeding disorder in hemophilia B carriers</td></tr><tr><td>178029</td><td>Arginine vasopressin deficiency</td></tr><tr><td>178145</td><td>Moderate multiminicore disease with hand involvement</td></tr><tr><td>178148</td><td>Antenatal multiminicore disease with arthrogryposis multiplex congenita</td></tr><tr><td>178303</td><td>8q22.1 microdeletion syndrome</td></tr><tr><td>178307</td><td>Reticulate acropigmentation of Kitamura</td></tr><tr><td>178311</td><td>Isolated sternocostoclavicular hyperostosis</td></tr><tr><td>178315</td><td>Undifferentiated embryonal sarcoma of the liver</td></tr><tr><td>178320</td><td>Acute lung injury</td></tr><tr><td>178333</td><td>Åland Islands eye disease</td></tr><tr><td>178338</td><td>UV-sensitive syndrome</td></tr><tr><td>178342</td><td>Inflammatory myofibroblastic tumor</td></tr><tr><td>178345</td><td>Aromatase excess syndrome</td></tr><tr><td>178355</td><td>Smith-McCort dysplasia</td></tr><tr><td>178364</td><td>Syndromic microphthalmia type 5</td></tr><tr><td>178377</td><td>Osteosclerosis-developmental delay-craniosynostosis syndrome</td></tr><tr><td>178382</td><td>Congenital vertical talus</td></tr><tr><td>178389</td><td>Osteopetrosis-hypogammaglobulinemia syndrome</td></tr><tr><td>178396</td><td>Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation</td></tr><tr><td>178400</td><td>Distal myopathy with anterior tibial onset</td></tr><tr><td>178461</td><td>X-linked myopathy with postural muscle atrophy</td></tr><tr><td>178464</td><td>Hereditary myopathy with early respiratory failure</td></tr><tr><td>178469</td><td>Autosomal dominant non-syndromic intellectual disability</td></tr><tr><td>178475</td><td>Wound botulism</td></tr><tr><td>178478</td><td>Infant botulism</td></tr><tr><td>178481</td><td>Intestinal botulism</td></tr><tr><td>178487</td><td>Adult intestinal botulism</td></tr><tr><td>178506</td><td>Brain calcification, Rajab type</td></tr><tr><td>178509</td><td>Perry syndrome</td></tr><tr><td>178512</td><td>Folliculotropic mycosis fungoides</td></tr><tr><td>178517</td><td>Localized pagetoid reticulosis</td></tr><tr><td>178522</td><td>Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma</td></tr><tr><td>178528</td><td>Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma</td></tr><tr><td>178533</td><td>Primary cutaneous gamma/delta-positive T-cell lymphoma</td></tr><tr><td>178536</td><td>Primary cutaneous marginal zone B-cell lymphoma</td></tr><tr><td>178540</td><td>Primary cutaneous follicle center lymphoma</td></tr><tr><td>178544</td><td>Primary cutaneous diffuse large B-cell lymphoma, leg type</td></tr><tr><td>179490</td><td>Obesity due to congenital leptin resistance</td></tr><tr><td>179494</td><td>Obesity due to leptin receptor gene deficiency</td></tr><tr><td>180074</td><td>True unicornuate uterus</td></tr><tr><td>180079</td><td>Pseudounicornuate uterus</td></tr><tr><td>180086</td><td>Didelphys uterus</td></tr><tr><td>180106</td><td>Bicervical bicornuate uterus and blind hemivagina</td></tr><tr><td>180111</td><td>Bicervical bicornuate uterus with patent cervix and vagina</td></tr><tr><td>180114</td><td>Unicervical bicornuate uterus</td></tr><tr><td>180126</td><td>Complete septate uterus</td></tr><tr><td>180129</td><td>Partial septate uterus</td></tr><tr><td>180139</td><td>Uterine hypoplasia</td></tr><tr><td>180142</td><td>Absence of uterine body</td></tr><tr><td>180145</td><td>Uterine cervical aplasia and agenesis</td></tr><tr><td>180154</td><td>Septate vagina</td></tr><tr><td>180157</td><td>Longitudinal vaginal septum</td></tr><tr><td>180160</td><td>Transverse vaginal septum</td></tr><tr><td>180176</td><td>Familial juvenile hypertrophy of the breast</td></tr><tr><td>180182</td><td>Supernumerary breasts</td></tr><tr><td>180188</td><td>Isolated congenital breast hypoplasia/aplasia</td></tr><tr><td>180226</td><td>Embryonal carcinoma</td></tr><tr><td>180229</td><td>Polyembryoma</td></tr><tr><td>180234</td><td>Mixed germ cell tumor</td></tr><tr><td>180237</td><td>Benign tumor of fallopian tubes</td></tr><tr><td>180242</td><td>Malignant tumor of fallopian tubes</td></tr><tr><td>180247</td><td>Vaginal carcinoma</td></tr><tr><td>180261</td><td>Phyllodes tumor of the breast</td></tr><tr><td>180267</td><td>Giant adenofibroma of the breast</td></tr><tr><td>180275</td><td>Paget disease of the nipple</td></tr><tr><td>182050</td><td>MYH9-related disease</td></tr><tr><td>182127</td><td>Extragonadal germinoma</td></tr><tr><td>183663</td><td>Hyper-IgM syndrome with susceptibility to opportunistic infections</td></tr><tr><td>183666</td><td>Hyper-IgM syndrome without susceptibility to opportunistic infections</td></tr><tr><td>183675</td><td>Recurrent infections associated with rare immunoglobulin isotypes deficiency</td></tr><tr><td>183678</td><td>Hermansky-Pudlak syndrome due to AP-3 deficiency</td></tr><tr><td>183707</td><td>Infantile LAD-like disease due to RAC2 deficiency</td></tr><tr><td>183713</td><td>Bacterial susceptibility due to TLR signaling pathway deficiency</td></tr><tr><td>189427</td><td>Cushing syndrome due to bilateral macronodular adrenocortical disease</td></tr><tr><td>189466</td><td>Familial isolated hypoparathyroidism due to impaired PTH secretion</td></tr><tr><td>199241</td><td>Pulmonary capillary hemangiomatosis</td></tr><tr><td>199244</td><td>Nelson syndrome</td></tr><tr><td>199247</td><td>Corticosteroid-binding globulin deficiency</td></tr><tr><td>199251</td><td>Ledderhose disease</td></tr><tr><td>199260</td><td>Calcifying aponeurotic fibroma</td></tr><tr><td>199267</td><td>Infantile digital fibromatosis</td></tr><tr><td>199276</td><td>Familial multiple lipomatosis</td></tr><tr><td>199279</td><td>Familial angiolipomatosis</td></tr><tr><td>199282</td><td>Harlequin syndrome</td></tr><tr><td>199285</td><td>Hereditary hypercarotenemia and vitamin A deficiency</td></tr><tr><td>199293</td><td>Congenital microgastria</td></tr><tr><td>199296</td><td>Congenital isolated ACTH deficiency</td></tr><tr><td>199299</td><td>Late-onset isolated ACTH deficiency</td></tr><tr><td>199302</td><td>Isolated cleft lip</td></tr><tr><td>199306</td><td>Cleft lip/palate</td></tr><tr><td>199310</td><td>Tetragametic chimerism</td></tr><tr><td>199315</td><td>Familial clubfoot with or without associated lower limb anomalies</td></tr><tr><td>199318</td><td>15q13.3 microdeletion syndrome</td></tr><tr><td>199323</td><td>Endophthalmitis</td></tr><tr><td>199326</td><td>Isolated autosomal dominant hypomagnesemia, Glaudemans type</td></tr><tr><td>199329</td><td>Congenital myopathy, Paradas type</td></tr><tr><td>199332</td><td>Endocrine-cerebro-osteodysplasia syndrome</td></tr><tr><td>199337</td><td>Pancreatic insufficiency-anemia-hyperostosis syndrome</td></tr><tr><td>199340</td><td>Muscular dystrophy, Selcen type</td></tr><tr><td>199343</td><td>EAST syndrome</td></tr><tr><td>199348</td><td>Thiamine-responsive encephalopathy</td></tr><tr><td>199351</td><td>Adult-onset dystonia-parkinsonism</td></tr><tr><td>199354</td><td>Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy</td></tr><tr><td>199627</td><td>Atypical autism</td></tr><tr><td>199630</td><td>Isolated cerebellar vermis hypoplasia</td></tr><tr><td>199642</td><td>Isolated congenital microcephaly</td></tr><tr><td>199647</td><td>Isolated encephalocele</td></tr><tr><td>200418</td><td>Immunodeficiency with factor I anomaly</td></tr><tr><td>200421</td><td>Immunodeficiency with factor H anomaly</td></tr><tr><td>206436</td><td>Infantile Krabbe disease</td></tr><tr><td>206443</td><td>Late-infantile/juvenile Krabbe disease</td></tr><tr><td>206448</td><td>Adult Krabbe disease</td></tr><tr><td>206470</td><td>Cystadenoma of childhood</td></tr><tr><td>206484</td><td>Gonadoblastoma</td></tr><tr><td>206489</td><td>Malignant germ cell tumor of the vagina</td></tr><tr><td>206492</td><td>Vulvovaginal rhabdomyosarcoma</td></tr><tr><td>206538</td><td>Malignant non-dysgerminomatous germ cell tumor of ovary</td></tr><tr><td>206546</td><td>Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers</td></tr><tr><td>206549</td><td>Anoctamin-5-related limb-girdle muscular dystrophy R12</td></tr><tr><td>206554</td><td>Fukutin-related limb-girdle muscular dystrophy R13</td></tr><tr><td>206559</td><td>POMT2-related limb-girdle muscular dystrophy R14</td></tr><tr><td>206564</td><td>POMGNT1-related limb-girdle muscular dystrophy R15</td></tr><tr><td>206569</td><td>Immune-mediated necrotizing myopathy</td></tr><tr><td>206572</td><td>Overlap myositis</td></tr><tr><td>206575</td><td>Rippling muscle disease with myasthenia gravis</td></tr><tr><td>206580</td><td>Autosomal recessive lower motor neuron disease with childhood onset</td></tr><tr><td>206583</td><td>Adult polyglucosan body disease</td></tr><tr><td>206586</td><td>Neurolymphomatosis</td></tr><tr><td>206594</td><td>Subacute inflammatory demyelinating polyneuropathy</td></tr><tr><td>206599</td><td>Isolated asymptomatic elevation of creatine phosphokinase</td></tr><tr><td>206991</td><td>Viral myositis</td></tr><tr><td>206994</td><td>Bacterial myositis</td></tr><tr><td>207000</td><td>Fungal myositis</td></tr><tr><td>208441</td><td>Bilateral parasagittal parieto-occipital polymicrogyria</td></tr><tr><td>208444</td><td>Bilateral frontal polymicrogyria</td></tr><tr><td>208447</td><td>Bilateral generalized polymicrogyria</td></tr><tr><td>208513</td><td>Spinocerebellar ataxia type 29</td></tr><tr><td>208524</td><td>Herpetiform pemphigus</td></tr><tr><td>208989</td><td>Non-paraneoplastic sensory ganglionopathy</td></tr><tr><td>208999</td><td>Paraneoplastic sensory ganglionopathy</td></tr><tr><td>209004</td><td>Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy</td></tr><tr><td>209335</td><td>Autosomal dominant adult-onset proximal spinal muscular atrophy</td></tr><tr><td>209341</td><td>DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy</td></tr><tr><td>209370</td><td>Severe neonatal-onset encephalopathy with microcephaly</td></tr><tr><td>209867</td><td>Autosomal dominant rhegmatogenous retinal detachment</td></tr><tr><td>209902</td><td>Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency</td></tr><tr><td>209905</td><td>Brain-lung-thyroid syndrome</td></tr><tr><td>209908</td><td>Isolated childhood apraxia of speech</td></tr><tr><td>209916</td><td>Extraskeletal myxoid chondrosarcoma</td></tr><tr><td>209919</td><td>Idiopathic copper-associated cirrhosis</td></tr><tr><td>209932</td><td>Cone dystrophy with supernormal rod response</td></tr><tr><td>209943</td><td>IRVAN syndrome</td></tr><tr><td>209951</td><td>Autosomal spastic paraplegia type 18</td></tr><tr><td>209956</td><td>Idiopathic uveal effusion syndrome</td></tr><tr><td>209959</td><td>Phacoanaphylactic uveitis</td></tr><tr><td>209964</td><td>Solitary rectal ulcer syndrome</td></tr><tr><td>209967</td><td>Episodic ataxia type 6</td></tr><tr><td>209970</td><td>Episodic ataxia type 7</td></tr><tr><td>209973</td><td>Benign nocturnal alternating hemiplegia of childhood</td></tr><tr><td>209981</td><td>IRIDA syndrome</td></tr><tr><td>209989</td><td>Non-papillary transitional cell carcinoma of the bladder</td></tr><tr><td>210110</td><td>Intermediate osteopetrosis</td></tr><tr><td>210115</td><td>Sterile multifocal osteomyelitis with periostitis and pustulosis</td></tr><tr><td>210122</td><td>Congenital alveolar capillary dysplasia</td></tr><tr><td>210128</td><td>Urocanic aciduria</td></tr><tr><td>210133</td><td>Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome</td></tr><tr><td>210136</td><td>Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome</td></tr><tr><td>210141</td><td>Inherited congenital spastic tetraplegia</td></tr><tr><td>210144</td><td>Lethal polymalformative syndrome, Boissel type</td></tr><tr><td>210159</td><td>Adult hepatocellular carcinoma</td></tr><tr><td>210163</td><td>Congenital lethal myopathy, Compton-North type</td></tr><tr><td>210272</td><td>Mal de débarquement</td></tr><tr><td>210548</td><td>Macrocephaly-intellectual disability-autism syndrome</td></tr><tr><td>210571</td><td>Dystonia 16</td></tr><tr><td>210576</td><td>Congenital temporomandibular joint ankylosis</td></tr><tr><td>210584</td><td>Spindle cell hemangioma</td></tr><tr><td>211017</td><td>Spinocerebellar ataxia type 30</td></tr><tr><td>211067</td><td>Episodic ataxia type 5</td></tr><tr><td>213504</td><td>Adenocarcinoma of ovary</td></tr><tr><td>213512</td><td>Malignant mixed Müllerian tumor of the ovary</td></tr><tr><td>213528</td><td>Rare adenocarcinoma of the breast</td></tr><tr><td>213531</td><td>Metaplastic carcinoma of the breast</td></tr><tr><td>213557</td><td>Salivary gland type cancer of the breast</td></tr><tr><td>213600</td><td>Adenosarcoma of the corpus uteri</td></tr><tr><td>213605</td><td>Carcinofibroma of the corpus uteri</td></tr><tr><td>213610</td><td>Carcinosarcoma of the corpus uteri</td></tr><tr><td>213615</td><td>Rhabdomyosarcoma of the corpus uteri</td></tr><tr><td>213625</td><td>Leiomyosarcoma of the corpus uteri</td></tr><tr><td>213630</td><td>Primitive neuroectodermal tumor of the corpus uteri</td></tr><tr><td>213711</td><td>Endometrial stromal sarcoma</td></tr><tr><td>213716</td><td>Squamous cell carcinoma of the corpus uteri</td></tr><tr><td>213721</td><td>Undifferentiated carcinoma of the corpus uteri</td></tr><tr><td>213726</td><td>Serous carcinoma of the corpus uteri</td></tr><tr><td>213731</td><td>High-grade neuroendocrine carcinoma of the corpus uteri</td></tr><tr><td>213736</td><td>Low-grade neuroendocrine tumor of the corpus uteri</td></tr><tr><td>213746</td><td>Transitional cell carcinoma of the corpus uteri</td></tr><tr><td>213751</td><td>Malignant germ cell tumor of the corpus uteri</td></tr><tr><td>213767</td><td>Squamous cell carcinoma of the cervix uteri</td></tr><tr><td>213772</td><td>Adenocarcinoma of the cervix uteri</td></tr><tr><td>213777</td><td>High-grade neuroendocrine carcinoma of the cervix uteri</td></tr><tr><td>213787</td><td>Carcinosarcoma of the cervix uteri</td></tr><tr><td>213792</td><td>Adenosarcoma of the cervix uteri</td></tr><tr><td>213802</td><td>Rhabdomyosarcoma of the cervix uteri</td></tr><tr><td>213807</td><td>Leiomyosarcoma of the cervix uteri</td></tr><tr><td>213812</td><td>Primitive neuroectodermal tumor of the cervix uteri</td></tr><tr><td>213823</td><td>Adenoid cystic carcinoma of the cervix uteri</td></tr><tr><td>213828</td><td>Adenoid basal carcinoma of the cervix uteri</td></tr><tr><td>213833</td><td>Glassy cell carcinoma of the cervix uteri</td></tr><tr><td>213837</td><td>Malignant germ cell tumor of the cervix uteri</td></tr><tr><td>216694</td><td>Congenitally corrected transposition of the great arteries</td></tr><tr><td>216718</td><td>Isolated congenitally uncorrected transposition of the great arteries</td></tr><tr><td>216729</td><td>Congenitally uncorrected transposition of the great arteries with cardiac malformation</td></tr><tr><td>216796</td><td>Osteogenesis imperfecta type 1</td></tr><tr><td>216804</td><td>Osteogenesis imperfecta type 2</td></tr><tr><td>216812</td><td>Osteogenesis imperfecta type 3</td></tr><tr><td>216820</td><td>Osteogenesis imperfecta type 4</td></tr><tr><td>216828</td><td>Osteogenesis imperfecta type 5</td></tr><tr><td>216866</td><td>Classic pantothenate kinase-associated neurodegeneration</td></tr><tr><td>216873</td><td>Atypical pantothenate kinase-associated neurodegeneration</td></tr><tr><td>216972</td><td>Niemann-Pick disease type C, severe perinatal form</td></tr><tr><td>216975</td><td>Niemann-Pick disease type C, severe early infantile neurologic onset</td></tr><tr><td>216978</td><td>Niemann-Pick disease type C, late infantile neurologic onset</td></tr><tr><td>216981</td><td>Niemann-Pick disease type C, juvenile neurologic onset</td></tr><tr><td>216986</td><td>Niemann-Pick disease type C, adult neurologic onset</td></tr><tr><td>217008</td><td>Bockenheimer syndrome</td></tr><tr><td>217012</td><td>Spinocerebellar ataxia type 31</td></tr><tr><td>217017</td><td>Zechi-Ceide syndrome</td></tr><tr><td>217026</td><td>Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type</td></tr><tr><td>217055</td><td>Autosomal recessive intermediate Charcot-Marie-Tooth disease type A</td></tr><tr><td>217059</td><td>Isolated nail clubbing</td></tr><tr><td>217064</td><td>5-fluorouracil poisoning</td></tr><tr><td>217067</td><td>Pouchitis</td></tr><tr><td>217080</td><td>Pulmonary fungal infections in patients deemed at risk</td></tr><tr><td>217085</td><td>Mucopolysaccharidosis type 2, severe form</td></tr><tr><td>217093</td><td>Mucopolysaccharidosis type 2, attenuated form</td></tr><tr><td>217253</td><td>NMDA receptor encephalitis</td></tr><tr><td>217260</td><td>Progressive multifocal leukoencephalopathy</td></tr><tr><td>217266</td><td>BNAR syndrome</td></tr><tr><td>217330</td><td>REN-related autosomal dominant tubulointerstitial kidney disease</td></tr><tr><td>217335</td><td>RIN2 syndrome</td></tr><tr><td>217340</td><td>17q21.31 microduplication syndrome</td></tr><tr><td>217346</td><td>19q13.11 microdeletion syndrome</td></tr><tr><td>217371</td><td>Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins</td></tr><tr><td>217377</td><td>Microduplication Xp11.22p11.23 syndrome</td></tr><tr><td>217382</td><td>Neurodegenerative syndrome due to cerebral folate transport deficiency</td></tr><tr><td>217385</td><td>17p13.3 microduplication syndrome</td></tr><tr><td>217390</td><td>Combined immunodeficiency due to DOCK8 deficiency</td></tr><tr><td>217396</td><td>Progressive polyneuropathy with bilateral striatal necrosis</td></tr><tr><td>217399</td><td>Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation</td></tr><tr><td>217407</td><td>Hereditary hypotrichosis with recurrent skin vesicles</td></tr><tr><td>217467</td><td>Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency</td></tr><tr><td>217557</td><td>Pulmonary interstitial glycogenosis</td></tr><tr><td>217560</td><td>Neuroendocrine cell hyperplasia of infancy</td></tr><tr><td>217563</td><td>Neonatal acute respiratory distress due to SP-B deficiency</td></tr><tr><td>217566</td><td>Chronic respiratory distress with surfactant metabolism deficiency</td></tr><tr><td>217622</td><td>Sensorineural deafness with dilated cardiomyopathy</td></tr><tr><td>217656</td><td>Inherited isolated arrhythmogenic cardiomyopathy</td></tr><tr><td>220295</td><td>Xeroderma pigmentosum-Cockayne syndrome complex</td></tr><tr><td>220386</td><td>Semilobar holoprosencephaly</td></tr><tr><td>220393</td><td>Diffuse cutaneous systemic sclerosis</td></tr><tr><td>220402</td><td>Limited cutaneous systemic sclerosis</td></tr><tr><td>220407</td><td>Limited systemic sclerosis</td></tr><tr><td>220436</td><td>Quebec platelet disorder</td></tr><tr><td>220443</td><td>Bleeding diathesis due to thromboxane synthesis deficiency</td></tr><tr><td>220448</td><td>Macrothrombocytopenia with mitral valve insufficiency</td></tr><tr><td>220460</td><td>Attenuated familial adenomatous polyposis</td></tr><tr><td>220465</td><td>Laron syndrome with immunodeficiency</td></tr><tr><td>220493</td><td>Joubert syndrome with ocular defect</td></tr><tr><td>220497</td><td>Joubert syndrome with renal defect</td></tr><tr><td>221008</td><td>Rothmund-Thomson syndrome type 1</td></tr><tr><td>221016</td><td>Rothmund-Thomson syndrome type 2</td></tr><tr><td>221039</td><td>Hereditary sclerosing poikiloderma, Weary type</td></tr><tr><td>221043</td><td>Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome</td></tr><tr><td>221046</td><td>Poikiloderma with neutropenia</td></tr><tr><td>221054</td><td>Acrocephalopolydactyly</td></tr><tr><td>221061</td><td>Familial cerebral cavernous malformation</td></tr><tr><td>221074</td><td>Marchiafava-Bignami disease</td></tr><tr><td>221078</td><td>Combined hyperactive dysfunction syndrome of the cranial nerves</td></tr><tr><td>221083</td><td>Hemifacial spasm</td></tr><tr><td>221091</td><td>Trigeminal neuralgia</td></tr><tr><td>221098</td><td>Glossopharyngeal neuralgia</td></tr><tr><td>221117</td><td>Gerstmann syndrome</td></tr><tr><td>221120</td><td>Pseudoaminopterin syndrome</td></tr><tr><td>221126</td><td>Fowler vasculopathy</td></tr><tr><td>221139</td><td>Combined immunodeficiency with facio-oculo-skeletal anomalies</td></tr><tr><td>221142</td><td>Confetti-like macular atrophy</td></tr><tr><td>221145</td><td>Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies</td></tr><tr><td>225123</td><td>TFR2-related hemochromatosis</td></tr><tr><td>225147</td><td>Sporadic infantile bilateral striatal necrosis</td></tr><tr><td>225154</td><td>Familial infantile bilateral striatal necrosis</td></tr><tr><td>226307</td><td>Hypothyroidism due to deficient transcription factors involved in pituitary development or function</td></tr><tr><td>226313</td><td>Congenital hypothyroidism due to maternal intake of antithyroid drugs</td></tr><tr><td>226316</td><td>Genetic transient congenital hypothyroidism</td></tr><tr><td>227510</td><td>Multiple system atrophy, cerebellar type</td></tr><tr><td>227535</td><td>Hereditary breast cancer</td></tr><tr><td>227796</td><td>Fundus albipunctatus</td></tr><tr><td>227972</td><td>Toxic oil syndrome</td></tr><tr><td>227976</td><td>Autosomal recessive optic atrophy, OPA7 type</td></tr><tr><td>227982</td><td>Autoimmune polyendocrinopathy type 3</td></tr><tr><td>227990</td><td>Autoimmune polyendocrinopathy type 4</td></tr><tr><td>228000</td><td>Idiopathic CD4 lymphocytopenia</td></tr><tr><td>228003</td><td>Severe combined immunodeficiency due to CORO1A deficiency</td></tr><tr><td>228012</td><td>Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome</td></tr><tr><td>228113</td><td>Anal fistula</td></tr><tr><td>228116</td><td>Hughes-Stovin syndrome</td></tr><tr><td>228119</td><td>Fusariosis</td></tr><tr><td>228123</td><td>Coccidioidomycosis</td></tr><tr><td>228140</td><td>Idiopathic ventricular fibrillation, non Brugada type</td></tr><tr><td>228157</td><td>Marburg acute multiple sclerosis</td></tr><tr><td>228165</td><td>Baló concentric sclerosis</td></tr><tr><td>228169</td><td>Autosomal dominant striatal neurodegeneration</td></tr><tr><td>228174</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2N</td></tr><tr><td>228179</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2M</td></tr><tr><td>228190</td><td>Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome</td></tr><tr><td>228227</td><td>Late-onset focal dermal elastosis</td></tr><tr><td>228236</td><td>Linear focal elastosis</td></tr><tr><td>228240</td><td>Elastoderma</td></tr><tr><td>228243</td><td>Elastofibroma dorsi</td></tr><tr><td>228247</td><td>Acquired pseudoxanthoma elasticum</td></tr><tr><td>228254</td><td>Elastoma</td></tr><tr><td>228264</td><td>Papular elastorrhexis</td></tr><tr><td>228272</td><td>Primary anetoderma</td></tr><tr><td>228277</td><td>Familial anetoderma</td></tr><tr><td>228285</td><td>Acquired cutis laxa</td></tr><tr><td>228290</td><td>White fibrous papulosis of the neck</td></tr><tr><td>228293</td><td>Pseudoxanthoma elasticum-like papillary dermal elastolysis</td></tr><tr><td>228299</td><td>Mid-dermal elastolysis</td></tr><tr><td>228302</td><td>Carnitine palmitoyl transferase II deficiency, myopathic form</td></tr><tr><td>228305</td><td>Carnitine palmitoyl transferase II deficiency, severe infantile form</td></tr><tr><td>228308</td><td>Carnitine palmitoyl transferase II deficiency, neonatal form</td></tr><tr><td>228329</td><td>CLN1 disease</td></tr><tr><td>228337</td><td>CLN10 disease</td></tr><tr><td>228343</td><td>CLN4 disease</td></tr><tr><td>228346</td><td>CLN3 disease</td></tr><tr><td>228349</td><td>CLN2 disease</td></tr><tr><td>228354</td><td>CLN8 disease</td></tr><tr><td>228360</td><td>CLN5 disease</td></tr><tr><td>228363</td><td>CLN6 disease</td></tr><tr><td>228366</td><td>CLN7 disease</td></tr><tr><td>228371</td><td>Foodborne botulism</td></tr><tr><td>228374</td><td>Charcot-Marie-Tooth disease type 2B5</td></tr><tr><td>228379</td><td>Virus-associated trichodysplasia spinulosa</td></tr><tr><td>228384</td><td>5q14.3 microdeletion syndrome</td></tr><tr><td>228387</td><td>Spondylo-megaepiphyseal-metaphyseal dysplasia</td></tr><tr><td>228390</td><td>Frontonasal dysplasia-alopecia-genital anomalies syndrome</td></tr><tr><td>228396</td><td>Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome</td></tr><tr><td>228399</td><td>8q12 microduplication syndrome</td></tr><tr><td>228402</td><td>2q23.1 microdeletion syndrome</td></tr><tr><td>228410</td><td>Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome</td></tr><tr><td>228415</td><td>5q35 microduplication syndrome</td></tr><tr><td>228423</td><td>GATA2 deficiency spectrum</td></tr><tr><td>228426</td><td>Syndromic multisystem autoimmune disease due to Itch deficiency</td></tr><tr><td>229717</td><td>Isolated agammaglobulinemia</td></tr><tr><td>230800</td><td>Toxin-mediated infectious botulism</td></tr><tr><td>230839</td><td>Classical-like Ehlers-Danlos syndrome type 1</td></tr><tr><td>230851</td><td>Cardiac-valvular Ehlers-Danlos syndrome</td></tr><tr><td>230857</td><td>Ehlers-Danlos/osteogenesis imperfecta syndrome</td></tr><tr><td>231013</td><td>Congenital trigeminal anesthesia</td></tr><tr><td>231031</td><td>Erythema palmare hereditarium</td></tr><tr><td>231040</td><td>Familial generalized lentiginosis</td></tr><tr><td>231080</td><td>High-grade dysplasia in patients with Barrett esophagus</td></tr><tr><td>231108</td><td>Rhabdoid tumor predisposition syndrome</td></tr><tr><td>231111</td><td>Drug-induced lupus erythematosus</td></tr><tr><td>231117</td><td>Beckwith-Wiedemann syndrome due to imprinting defect of 11p15</td></tr><tr><td>231120</td><td>Beckwith-Wiedemann syndrome due to CDKN1C mutation</td></tr><tr><td>231127</td><td>Beckwith-Wiedemann syndrome due to 11p15 microdeletion</td></tr><tr><td>231130</td><td>Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion</td></tr><tr><td>231137</td><td>Silver-Russell syndrome due to 7p11.2p13 microduplication</td></tr><tr><td>231140</td><td>Silver-Russell syndrome due to an imprinting defect of 11p15</td></tr><tr><td>231144</td><td>Silver-Russell syndrome due to 11p15 microduplication</td></tr><tr><td>231147</td><td>Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11</td></tr><tr><td>231154</td><td>Combined immunodeficiency due to partial RAG1 deficiency</td></tr><tr><td>231160</td><td>Familial cerebral saccular aneurysm</td></tr><tr><td>231169</td><td>Usher syndrome type 1</td></tr><tr><td>231178</td><td>Usher syndrome type 2</td></tr><tr><td>231183</td><td>Usher syndrome type 3</td></tr><tr><td>231214</td><td>Beta-thalassemia major</td></tr><tr><td>231222</td><td>Beta-thalassemia intermedia</td></tr><tr><td>231226</td><td>Dominant beta-thalassemia</td></tr><tr><td>231237</td><td>Delta-beta-thalassemia</td></tr><tr><td>231242</td><td>Hemoglobin C-beta-thalassemia syndrome</td></tr><tr><td>231249</td><td>Hemoglobin E-beta-thalassemia syndrome</td></tr><tr><td>231393</td><td>Beta-thalassemia-X-linked thrombocytopenia syndrome</td></tr><tr><td>231401</td><td>Alpha-thalassemia-myelodysplastic syndrome</td></tr><tr><td>231426</td><td>Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome</td></tr><tr><td>231445</td><td>Paraparetic variant of Guillain-Barré syndrome</td></tr><tr><td>231450</td><td>Acute pure sensory neuropathy</td></tr><tr><td>231457</td><td>Acute pandysautonomia</td></tr><tr><td>231466</td><td>Acute sensory ataxic neuropathy</td></tr><tr><td>231500</td><td>Hermansky-Pudlak syndrome due to BLOC-3 deficiency</td></tr><tr><td>231512</td><td>Hermansky-Pudlak syndrome due to BLOC-2 deficiency</td></tr><tr><td>231531</td><td>Hermansky-Pudlak syndrome due to BLOC-1 deficiency</td></tr><tr><td>231556</td><td>Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome</td></tr><tr><td>231568</td><td>Autosomal dominant generalized dystrophic epidermolysis bullosa</td></tr><tr><td>231573</td><td>Congenital erosive and vesicular dermatosis</td></tr><tr><td>231580</td><td>Primary unilateral adrenal hyperplasia</td></tr><tr><td>231625</td><td>Adrenocortical carcinoma with pure aldosterone hypersecretion</td></tr><tr><td>231632</td><td>Ectopic aldosterone-producing tumor</td></tr><tr><td>231662</td><td>Isolated growth hormone deficiency type IA</td></tr><tr><td>231671</td><td>Isolated growth hormone deficiency type IB</td></tr><tr><td>231679</td><td>Isolated growth hormone deficiency type II</td></tr><tr><td>231692</td><td>Isolated growth hormone deficiency type III</td></tr><tr><td>231720</td><td>Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome</td></tr><tr><td>231736</td><td>Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome</td></tr><tr><td>231742</td><td>Epibulbar lipodermoid-preauricular appendage-polythelia syndrome</td></tr><tr><td>238269</td><td>AApoAII amyloidosis</td></tr><tr><td>238305</td><td>Infundibulo-neurohypophysitis</td></tr><tr><td>238329</td><td>Severe X-linked mitochondrial encephalomyopathy</td></tr><tr><td>238446</td><td>15q11q13 microduplication syndrome</td></tr><tr><td>238455</td><td>Infantile dystonia-parkinsonism</td></tr><tr><td>238459</td><td>SLC35A1-CDG</td></tr><tr><td>238468</td><td>Hypohidrotic ectodermal dysplasia</td></tr><tr><td>238475</td><td>Familial hypercholanemia</td></tr><tr><td>238505</td><td>Combined immunodeficiency due to CD27 deficiency</td></tr><tr><td>238523</td><td>Atypical hypotonia-cystinuria syndrome</td></tr><tr><td>238557</td><td>Chuvash erythrocytosis</td></tr><tr><td>238569</td><td>Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome</td></tr><tr><td>238578</td><td>Familial clubfoot due to 17q23.1q23.2 microduplication</td></tr><tr><td>238583</td><td>Hyperphenylalaninemia due to tetrahydrobiopterin deficiency</td></tr><tr><td>238593</td><td>IgG4-related mesenteritis</td></tr><tr><td>238606</td><td>Primary orthostatic tremor</td></tr><tr><td>238613</td><td>Beckwith-Wiedemann syndrome due to NSD1 mutation</td></tr><tr><td>238621</td><td>Ileal pouch anal anastomosis related faecal incontinence</td></tr><tr><td>238624</td><td>Idiopathic intracranial hypertension</td></tr><tr><td>238637</td><td>Megacystis-megaureter syndrome</td></tr><tr><td>238642</td><td>Primary megaureter, adult-onset form</td></tr><tr><td>238646</td><td>Congenital primary megaureter, obstructed form</td></tr><tr><td>238650</td><td>Congenital primary megaureter, refluxing form</td></tr><tr><td>238654</td><td>Congenital primary megaureter, nonrefluxing and unobstructed form</td></tr><tr><td>238666</td><td>Isolated congenital hypogonadotropic hypogonadism</td></tr><tr><td>238670</td><td>Isolated thyrotropin-releasing hormone deficiency</td></tr><tr><td>238688</td><td>Neonatal iodine exposure</td></tr><tr><td>238722</td><td>Familial congenital mirror movements</td></tr><tr><td>238744</td><td>Mammary-digital-nail syndrome</td></tr><tr><td>238750</td><td>4q21 microdeletion syndrome</td></tr><tr><td>238763</td><td>Glaucoma secondary to spherophakia/ectopia lentis and megalocornea</td></tr><tr><td>238769</td><td>1q44 microdeletion syndrome</td></tr><tr><td>240071</td><td>Classic progressive supranuclear palsy syndrome</td></tr><tr><td>240085</td><td>Progressive supranuclear palsy-predominant parkinsonism syndrome</td></tr><tr><td>240094</td><td>Progressive supranuclear palsy-pure akinesia with gait freezing syndrome</td></tr><tr><td>240103</td><td>Progressive supranuclear palsy-corticobasal syndrome</td></tr><tr><td>240112</td><td>Progressive supranuclear palsy-progressive non-fluent aphasia syndrome</td></tr><tr><td>240760</td><td>Nijmegen breakage syndrome-like disorder</td></tr><tr><td>243343</td><td>Dimethylglycine dehydrogenase deficiency</td></tr><tr><td>243367</td><td>Acute fatty liver of pregnancy</td></tr><tr><td>244242</td><td>HELLP syndrome</td></tr><tr><td>244275</td><td>De novo thrombotic microangiopathy after kidney transplantation</td></tr><tr><td>244283</td><td>Biliary atresia with splenic malformation syndrome</td></tr><tr><td>244305</td><td>Dominant hypophosphatemia with nephrolithiasis or osteoporosis</td></tr><tr><td>244310</td><td>RFT1-CDG</td></tr><tr><td>247165</td><td>Infantile mercury poisoning</td></tr><tr><td>247198</td><td>Progressive cerebello-cerebral atrophy</td></tr><tr><td>247203</td><td>Collecting duct carcinoma</td></tr><tr><td>247234</td><td>Sporadic adult-onset ataxia of unknown etiology</td></tr><tr><td>247245</td><td>Superficial siderosis</td></tr><tr><td>247257</td><td>Inhalational anthrax</td></tr><tr><td>247262</td><td>Hyperphosphatasia-intellectual disability syndrome</td></tr><tr><td>247353</td><td>Generalized pustular psoriasis</td></tr><tr><td>247378</td><td>Autosomal recessive secondary polycythemia not associated with VHL gene</td></tr><tr><td>247511</td><td>Autosomal dominant secondary polycythemia</td></tr><tr><td>247522</td><td>Primary ciliary dyskinesia-retinitis pigmentosa syndrome</td></tr><tr><td>247525</td><td>Citrullinemia type I</td></tr><tr><td>247546</td><td>Acute neonatal citrullinemia type I</td></tr><tr><td>247573</td><td>Late-onset citrullinemia type I</td></tr><tr><td>247585</td><td>Citrullinemia type II</td></tr><tr><td>247598</td><td>Neonatal intrahepatic cholestasis due to citrin deficiency</td></tr><tr><td>247604</td><td>Juvenile primary lateral sclerosis</td></tr><tr><td>247623</td><td>Perinatal lethal hypophosphatasia</td></tr><tr><td>247638</td><td>Prenatal benign hypophosphatasia</td></tr><tr><td>247651</td><td>Infantile hypophosphatasia</td></tr><tr><td>247667</td><td>Childhood-onset hypophosphatasia</td></tr><tr><td>247676</td><td>Adult hypophosphatasia</td></tr><tr><td>247685</td><td>Odontohypophosphatasia</td></tr><tr><td>247691</td><td>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations</td></tr><tr><td>247698</td><td>Multiple endocrine neoplasia type 2A</td></tr><tr><td>247709</td><td>Multiple endocrine neoplasia type 2B</td></tr><tr><td>247718</td><td>Inflammatory myopathy with abundant macrophages</td></tr><tr><td>247724</td><td>Idiopathic eosinophilic myositis</td></tr><tr><td>247762</td><td>Lipoblastoma</td></tr><tr><td>247768</td><td>Müllerian aplasia and hyperandrogenism</td></tr><tr><td>247775</td><td>Mayer-Rokitansky-Küster-Hauser syndrome type 1</td></tr><tr><td>247790</td><td>FTH1-related iron overload</td></tr><tr><td>247794</td><td>Juvenile cataract-microcornea-renal glucosuria syndrome</td></tr><tr><td>247798</td><td>MUTYH-related attenuated familial adenomatous polyposis</td></tr><tr><td>247806</td><td>APC-related attenuated familial adenomatous polyposis</td></tr><tr><td>247815</td><td>Autosomal recessive ataxia due to PEX10 deficiency</td></tr><tr><td>247820</td><td>Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome</td></tr><tr><td>247827</td><td>Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome</td></tr><tr><td>247834</td><td>Occult macular dystrophy</td></tr><tr><td>247868</td><td>NLRP12-associated hereditary periodic fever syndrome</td></tr><tr><td>248111</td><td>Juvenile Huntington disease</td></tr><tr><td>248340</td><td>Isolated delta-storage pool disease</td></tr><tr><td>248408</td><td>Familial hypodysfibrinogenemia</td></tr><tr><td>250831</td><td>Logopenic progressive aphasia</td></tr><tr><td>250923</td><td>Isolated aniridia</td></tr><tr><td>250932</td><td>Autosomal dominant optic atrophy and peripheral neuropathy</td></tr><tr><td>250972</td><td>Polymicrogyria with optic nerve hypoplasia</td></tr><tr><td>250977</td><td>AICA-ribosiduria</td></tr><tr><td>250984</td><td>Autosomal recessive Stickler syndrome</td></tr><tr><td>250989</td><td>1q21.1 microdeletion syndrome</td></tr><tr><td>250994</td><td>1q21.1 microduplication syndrome</td></tr><tr><td>250999</td><td>1q41q42 microdeletion syndrome</td></tr><tr><td>251004</td><td>Paternal uniparental disomy of chromosome 1</td></tr><tr><td>251009</td><td>Maternal uniparental disomy of chromosome 1</td></tr><tr><td>251014</td><td>2q31.1 microdeletion syndrome</td></tr><tr><td>251019</td><td>2q32q33 microdeletion syndrome</td></tr><tr><td>251028</td><td>SATB2-associated syndrome due to a chromosomal rearrangement</td></tr><tr><td>251038</td><td>3q29 microduplication syndrome</td></tr><tr><td>251043</td><td>Ring chromosome 5 syndrome</td></tr><tr><td>251046</td><td>6p22 microdeletion syndrome</td></tr><tr><td>251056</td><td>6q25.2q25.3 microdeletion syndrome</td></tr><tr><td>251061</td><td>7q31 microdeletion syndrome</td></tr><tr><td>251066</td><td>8p11.2 deletion syndrome</td></tr><tr><td>251071</td><td>8p23.1 microdeletion syndrome</td></tr><tr><td>251076</td><td>8p23.1 duplication syndrome</td></tr><tr><td>251262</td><td>Familial osteochondritis dissecans</td></tr><tr><td>251274</td><td>Familial hyperaldosteronism type III</td></tr><tr><td>251279</td><td>Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome</td></tr><tr><td>251282</td><td>Autosomal dominant spastic ataxia type 1</td></tr><tr><td>251287</td><td>Benign concentric annular macular dystrophy</td></tr><tr><td>251290</td><td>Parietal foramina with clavicular hypoplasia</td></tr><tr><td>251295</td><td>Pigmented paravenous retinochoroidal atrophy</td></tr><tr><td>251304</td><td>Infantile onset panniculitis with uveitis and systemic granulomatosis</td></tr><tr><td>251307</td><td>Idiopathic recurrent pericarditis</td></tr><tr><td>251325</td><td>Drug-induced vasculitis</td></tr><tr><td>251328</td><td>Unclassified vasculitis</td></tr><tr><td>251332</td><td>Unexplained long-lasting fever/inflammatory syndrome</td></tr><tr><td>251347</td><td>Ataxia-telangiectasia-like disorder</td></tr><tr><td>251359</td><td>Sickle cell-beta-thalassemia disease syndrome</td></tr><tr><td>251365</td><td>Sickle cell-hemoglobin C disease syndrome</td></tr><tr><td>251370</td><td>Sickle cell-hemoglobin D disease syndrome</td></tr><tr><td>251375</td><td>Sickle cell-hemoglobin E disease syndrome</td></tr><tr><td>251380</td><td>Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome</td></tr><tr><td>251383</td><td>CK syndrome</td></tr><tr><td>251393</td><td>Localized junctional epidermolysis bullosa</td></tr><tr><td>251510</td><td>46,XY partial gonadal dysgenesis</td></tr><tr><td>251515</td><td>Distal arthrogryposis type 10</td></tr><tr><td>251523</td><td>Hyperzincemia and hypercalprotectinemia</td></tr><tr><td>251576</td><td>Gliosarcoma</td></tr><tr><td>251579</td><td>Giant cell glioblastoma</td></tr><tr><td>251582</td><td>Gliomatosis cerebri</td></tr><tr><td>251589</td><td>Anaplastic astrocytoma</td></tr><tr><td>251595</td><td>Diffuse astrocytoma</td></tr><tr><td>251598</td><td>Protoplasmic astrocytoma</td></tr><tr><td>251601</td><td>Fibrillary astrocytoma</td></tr><tr><td>251604</td><td>Gemistocytic astrocytoma</td></tr><tr><td>251607</td><td>Pleomorphic xanthoastrocytoma</td></tr><tr><td>251612</td><td>Pilocytic astrocytoma</td></tr><tr><td>251615</td><td>Pilomyxoid astrocytoma</td></tr><tr><td>251618</td><td>Subependymal giant cell astrocytoma</td></tr><tr><td>251623</td><td>Pituicytoma</td></tr><tr><td>251627</td><td>Oligodendroglioma</td></tr><tr><td>251630</td><td>Anaplastic oligodendroglioma</td></tr><tr><td>251636</td><td>Ependymoma</td></tr><tr><td>251639</td><td>Subependymoma</td></tr><tr><td>251643</td><td>Myxopapillary ependymoma</td></tr><tr><td>251646</td><td>Anaplastic ependymoma</td></tr><tr><td>251656</td><td>Oligoastrocytoma</td></tr><tr><td>251663</td><td>Anaplastic oligoastrocytoma</td></tr><tr><td>251671</td><td>Angiocentric glioma</td></tr><tr><td>251674</td><td>Chordoid glioma</td></tr><tr><td>251679</td><td>Astroblastoma</td></tr><tr><td>251855</td><td>Anaplastic/large cell medulloblastoma</td></tr><tr><td>251858</td><td>Medulloblastoma with extensive nodularity</td></tr><tr><td>251863</td><td>Desmoplastic/nodular medulloblastoma</td></tr><tr><td>251867</td><td>Classic medulloblastoma</td></tr><tr><td>251877</td><td>Ganglioneuroblastoma</td></tr><tr><td>251899</td><td>Choroid plexus carcinoma</td></tr><tr><td>251902</td><td>Atypical papilloma of choroid plexus</td></tr><tr><td>251909</td><td>Pineoblastoma</td></tr><tr><td>251912</td><td>Pineocytoma</td></tr><tr><td>251915</td><td>Papillary tumor of the pineal region</td></tr><tr><td>251919</td><td>Pineal parenchymal tumor of intermediate differentiation</td></tr><tr><td>251927</td><td>Extraventricular neurocytoma</td></tr><tr><td>251931</td><td>Cerebellar liponeurocytoma</td></tr><tr><td>251937</td><td>Gangliocytoma</td></tr><tr><td>251940</td><td>Desmoplastic infantile astrocytoma/ganglioglioma</td></tr><tr><td>251946</td><td>Dysembryoplastic neuroepithelial tumor</td></tr><tr><td>251949</td><td>Ganglioglioma</td></tr><tr><td>251957</td><td>Anaplastic ganglioglioma</td></tr><tr><td>251962</td><td>Papillary glioneuronal tumor</td></tr><tr><td>251975</td><td>Rosette-forming glioneuronal tumor</td></tr><tr><td>251992</td><td>Ganglioneuroma</td></tr><tr><td>252006</td><td>Yolk sac tumor of central nervous system</td></tr><tr><td>252015</td><td>Choriocarcinoma of the central nervous system</td></tr><tr><td>252018</td><td>Teratoma of the central nervous system</td></tr><tr><td>252021</td><td>Mixed germ cell tumor of central nervous system</td></tr><tr><td>252031</td><td>Diffuse leptomeningeal melanocytosis</td></tr><tr><td>252046</td><td>Meningeal melanocytoma</td></tr><tr><td>252050</td><td>Primary melanoma of the central nervous system</td></tr><tr><td>252054</td><td>Hemangioblastoma</td></tr><tr><td>252128</td><td>Malignant peripheral nerve sheath tumor with perineurial differentiation</td></tr><tr><td>252164</td><td>Benign schwannoma</td></tr><tr><td>252175</td><td>Vestibular schwannoma</td></tr><tr><td>252183</td><td>Neurofibroma</td></tr><tr><td>252202</td><td>Constitutional mismatch repair deficiency syndrome</td></tr><tr><td>252206</td><td>Melanoma and neural system tumor syndrome</td></tr><tr><td>252212</td><td>Malignant triton tumor</td></tr><tr><td>254334</td><td>Autosomal recessive intermediate Charcot-Marie-Tooth disease type B</td></tr><tr><td>254343</td><td>Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome</td></tr><tr><td>254346</td><td>19p13.12 microdeletion syndrome</td></tr><tr><td>254351</td><td>Distal 7q11.23 microdeletion syndrome</td></tr><tr><td>254361</td><td>Plectin-related limb-girdle muscular dystrophy R17</td></tr><tr><td>254379</td><td>Linear lichen planus</td></tr><tr><td>254395</td><td>Actinic lichen planus</td></tr><tr><td>254411</td><td>Annular atrophic lichen planus</td></tr><tr><td>254424</td><td>Annular lichen planus</td></tr><tr><td>254449</td><td>Atrophic lichen planus</td></tr><tr><td>254463</td><td>Lichen planus pigmentosus</td></tr><tr><td>254478</td><td>Lichen planus pemphigoides</td></tr><tr><td>254492</td><td>Frontal fibrosing alopecia</td></tr><tr><td>254504</td><td>Inhalational botulism</td></tr><tr><td>254509</td><td>Iatrogenic botulism</td></tr><tr><td>254516</td><td>Temple syndrome</td></tr><tr><td>254519</td><td>Kagami-Ogata syndrome</td></tr><tr><td>254525</td><td>Temple syndrome due to paternal 14q32.2 microdeletion</td></tr><tr><td>254528</td><td>Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion</td></tr><tr><td>254531</td><td>Temple syndrome due to paternal 14q32.2 hypomethylation</td></tr><tr><td>254534</td><td>Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation</td></tr><tr><td>254688</td><td>Complete hydatidiform mole</td></tr><tr><td>254693</td><td>Partial hydatidiform mole</td></tr><tr><td>254698</td><td>Epithelioid trophoblastic tumor</td></tr><tr><td>254704</td><td>Genetic hyperferritinemia without iron overload</td></tr><tr><td>254851</td><td>Mitochondrial DNA-related dystonia</td></tr><tr><td>254854</td><td>Pure mitochondrial myopathy</td></tr><tr><td>254857</td><td>Lethal infantile mitochondrial myopathy</td></tr><tr><td>254864</td><td>Mitochondrial myopathy with reversible cytochrome C oxidase deficiency</td></tr><tr><td>254875</td><td>Mitochondrial DNA depletion syndrome, myopathic form</td></tr><tr><td>254881</td><td>Spinocerebellar ataxia with epilepsy</td></tr><tr><td>254886</td><td>Autosomal recessive progressive external ophthalmoplegia</td></tr><tr><td>254892</td><td>Autosomal dominant progressive external ophthalmoplegia</td></tr><tr><td>254898</td><td>Deafness-encephaloneuropathy-obesity-valvulopathy syndrome</td></tr><tr><td>254902</td><td>Renal tubulopathy-encephalopathy-liver failure syndrome</td></tr><tr><td>254905</td><td>Isolated cytochrome C oxidase deficiency</td></tr><tr><td>254913</td><td>Isolated ATP synthase deficiency</td></tr><tr><td>254920</td><td>Combined oxidative phosphorylation defect type 2</td></tr><tr><td>254925</td><td>Combined oxidative phosphorylation defect type 4</td></tr><tr><td>254930</td><td>Combined oxidative phosphorylation defect type 7</td></tr><tr><td>255132</td><td>Adult-onset autosomal recessive sideroblastic anemia</td></tr><tr><td>255138</td><td>Pyruvate dehydrogenase E1-beta deficiency</td></tr><tr><td>255182</td><td>Pyruvate dehydrogenase E3-binding protein deficiency</td></tr><tr><td>255210</td><td>Mitochondrial DNA-associated Leigh syndrome</td></tr><tr><td>255229</td><td>Navajo neurohepatopathy</td></tr><tr><td>255235</td><td>Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy</td></tr><tr><td>260305</td><td>Autosomal recessive sideroblastic anemia</td></tr><tr><td>261102</td><td>Distal 7q11.23 microduplication syndrome</td></tr><tr><td>261112</td><td>Monosomy 9p</td></tr><tr><td>261120</td><td>14q11.2 microdeletion syndrome</td></tr><tr><td>261144</td><td>FOXG1 syndrome due to 14q12 microdeletion</td></tr><tr><td>261183</td><td>15q11.2 microdeletion syndrome</td></tr><tr><td>261190</td><td>Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion</td></tr><tr><td>261197</td><td>Proximal 16p11.2 microdeletion syndrome</td></tr><tr><td>261204</td><td>16p11.2p12.2 microduplication syndrome</td></tr><tr><td>261211</td><td>16p11.2p12.2 microdeletion syndrome</td></tr><tr><td>261222</td><td>Distal 16p11.2 microdeletion syndrome</td></tr><tr><td>261229</td><td>14q11.2 microduplication syndrome</td></tr><tr><td>261236</td><td>16p13.11 microdeletion syndrome</td></tr><tr><td>261243</td><td>16p13.11 microduplication syndrome</td></tr><tr><td>261250</td><td>16q24.3 microdeletion syndrome</td></tr><tr><td>261257</td><td>Distal 17p13.3 microdeletion syndrome</td></tr><tr><td>261265</td><td>17q12 microdeletion syndrome</td></tr><tr><td>261272</td><td>17q12 microduplication syndrome</td></tr><tr><td>261279</td><td>17q23.1q23.2 microdeletion syndrome</td></tr><tr><td>261290</td><td>Trisomy 17p</td></tr><tr><td>261295</td><td>20p12.3 microdeletion syndrome</td></tr><tr><td>261304</td><td>Paternal 20q13.2q13.3 microdeletion syndrome</td></tr><tr><td>261311</td><td>20q13.33 microdeletion syndrome</td></tr><tr><td>261318</td><td>Trisomy 20p</td></tr><tr><td>261323</td><td>21q22.11q22.12 microdeletion syndrome</td></tr><tr><td>261330</td><td>Distal 22q11.2 microdeletion syndrome</td></tr><tr><td>261337</td><td>Distal 22q11.2 microduplication syndrome</td></tr><tr><td>261344</td><td>Trisomy 1q</td></tr><tr><td>261349</td><td>2p15p16.1 microdeletion syndrome</td></tr><tr><td>261476</td><td>Xp21 deletion syndrome</td></tr><tr><td>261483</td><td>Xq27.3q28 duplication syndrome</td></tr><tr><td>261494</td><td>Kleefstra syndrome</td></tr><tr><td>261501</td><td>Atypical Norrie disease due to Xp11.3 microdeletion</td></tr><tr><td>261519</td><td>Maternal uniparental disomy of chromosome X</td></tr><tr><td>261524</td><td>Paternal uniparental disomy of chromosome X</td></tr><tr><td>261529</td><td>Ring chromosome Y syndrome</td></tr><tr><td>261534</td><td>49,XXXYY syndrome</td></tr><tr><td>261537</td><td>Mowat-Wilson syndrome due to monosomy 2q22</td></tr><tr><td>261552</td><td>Mowat-Wilson syndrome due to a ZEB2 point mutation</td></tr><tr><td>261584</td><td>Familial adenomatous polyposis due to 5q22.2 microdeletion</td></tr><tr><td>261600</td><td>Alagille syndrome due to 20p12 microdeletion</td></tr><tr><td>261619</td><td>Alagille syndrome due to a JAG1 point mutation</td></tr><tr><td>261629</td><td>Alagille syndrome due to a NOTCH2 point mutation</td></tr><tr><td>261638</td><td>Okihiro syndrome due to 20q13 microdeletion</td></tr><tr><td>261647</td><td>Okihiro syndrome due to a point mutation</td></tr><tr><td>261652</td><td>Kleefstra syndrome due to a point mutation</td></tr><tr><td>263297</td><td>Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency</td></tr><tr><td>263310</td><td>Thymoma type A</td></tr><tr><td>263317</td><td>Thymoma type B</td></tr><tr><td>263324</td><td>Thymoma type AB</td></tr><tr><td>263331</td><td>Well-differentiated thymic neuroendocrine carcinoma</td></tr><tr><td>263335</td><td>Moderately-differentiated thymic neuroendocrine carcinoma</td></tr><tr><td>263339</td><td>Poorly differentiated thymic neuroendocrine carcinoma</td></tr><tr><td>263347</td><td>MRCS syndrome</td></tr><tr><td>263352</td><td>Postcardiotomy right ventricular failure</td></tr><tr><td>263410</td><td>Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome</td></tr><tr><td>263413</td><td>Angiosarcoma</td></tr><tr><td>263425</td><td>Nevus of Ota</td></tr><tr><td>263432</td><td>Nevus of Ito</td></tr><tr><td>263435</td><td>Congenital smooth muscle hamartoma</td></tr><tr><td>263455</td><td>Congenital hyperinsulinism due to HNF4A deficiency</td></tr><tr><td>263458</td><td>Hyperinsulinism due to INSR deficiency</td></tr><tr><td>263463</td><td>CHST3-related skeletal dysplasia</td></tr><tr><td>263479</td><td>Fuchs heterochromic iridocyclitis</td></tr><tr><td>263482</td><td>Spondyloepimetaphyseal dysplasia, Maroteaux type</td></tr><tr><td>263487</td><td>COG5-CDG</td></tr><tr><td>263494</td><td>DPM3-CDG</td></tr><tr><td>263501</td><td>COG4-CDG</td></tr><tr><td>263508</td><td>COG1-CDG</td></tr><tr><td>263516</td><td>Progressive myoclonic epilepsy type 3</td></tr><tr><td>263524</td><td>Acute necrotizing encephalopathy of childhood</td></tr><tr><td>263534</td><td>Acral peeling skin syndrome</td></tr><tr><td>263543</td><td>Generalized peeling skin syndrome</td></tr><tr><td>263548</td><td>Peeling skin syndrome type A</td></tr><tr><td>263553</td><td>Peeling skin syndrome type B</td></tr><tr><td>263662</td><td>Familial multiple meningioma</td></tr><tr><td>263665</td><td>NK-cell enteropathy</td></tr><tr><td>264200</td><td>14q22q23 microdeletion syndrome</td></tr><tr><td>264450</td><td>Trisomy 8p</td></tr><tr><td>264580</td><td>Glycogen storage disease due to liver phosphorylase kinase deficiency</td></tr><tr><td>264675</td><td>Hereditary pulmonary alveolar proteinosis</td></tr><tr><td>264688</td><td>Congenital chylothorax</td></tr><tr><td>264691</td><td>Isolated pulmonary capillaritis</td></tr><tr><td>264978</td><td>Drug or radiation exposure-related interstitial lung disease</td></tr><tr><td>268114</td><td>RAS-associated autoimmune leukoproliferative disease</td></tr><tr><td>268129</td><td>Spheroid body myopathy</td></tr><tr><td>268139</td><td>Intraocular medulloepithelioma</td></tr><tr><td>268145</td><td>Classic maple syrup urine disease</td></tr><tr><td>268162</td><td>Intermediate maple syrup urine disease</td></tr><tr><td>268173</td><td>Intermittent maple syrup urine disease</td></tr><tr><td>268184</td><td>Thiamine-responsive maple syrup urine disease</td></tr><tr><td>268249</td><td>Mycophenolate mofetil embryopathy</td></tr><tr><td>268261</td><td>DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion</td></tr><tr><td>268316</td><td>Complication in hemodialysis</td></tr><tr><td>268322</td><td>Hereditary thrombocytopenia with normal platelets</td></tr><tr><td>268363</td><td>Open iniencephaly</td></tr><tr><td>268366</td><td>Closed iniencephaly</td></tr><tr><td>268810</td><td>Isolated posterior meningocele</td></tr><tr><td>268820</td><td>Cranial meningocele</td></tr><tr><td>268823</td><td>Occipital encephalocele</td></tr><tr><td>268826</td><td>Parietal encephalocele</td></tr><tr><td>268829</td><td>Basal encephalocele</td></tr><tr><td>268861</td><td>Primary tethered cord syndrome</td></tr><tr><td>268865</td><td>Neurenteric cyst</td></tr><tr><td>268868</td><td>Isolated amyelia</td></tr><tr><td>268882</td><td>Arnold-Chiari malformation type I</td></tr><tr><td>268920</td><td>Isolated megalencephaly</td></tr><tr><td>268936</td><td>Isolated arhinencephaly</td></tr><tr><td>268940</td><td>Bilateral polymicrogyria</td></tr><tr><td>268943</td><td>Unilateral polymicrogyria</td></tr><tr><td>268947</td><td>Unilateral focal polymicrogyria</td></tr><tr><td>268961</td><td>Isolated focal cortical dysplasia type I</td></tr><tr><td>268973</td><td>Isolated focal cortical dysplasia type Ia</td></tr><tr><td>268980</td><td>Isolated focal cortical dysplasia type Ib</td></tr><tr><td>268987</td><td>Isolated focal cortical dysplasia type Ic</td></tr><tr><td>268994</td><td>Isolated focal cortical dysplasia type II</td></tr><tr><td>269001</td><td>Isolated focal cortical dysplasia type IIa</td></tr><tr><td>269008</td><td>Isolated focal cortical dysplasia type IIb</td></tr><tr><td>269197</td><td>Glioependymal/ependymal cyst</td></tr><tr><td>269203</td><td>Isolated cerebellar vermis agenesis</td></tr><tr><td>269206</td><td>Isolated total cerebellar vermis agenesis</td></tr><tr><td>269209</td><td>Isolated partial cerebellar vermis agenesis</td></tr><tr><td>269212</td><td>Isolated Dandy-Walker malformation with hydrocephalus</td></tr><tr><td>269215</td><td>Isolated Dandy-Walker malformation without hydrocephalus</td></tr><tr><td>269218</td><td>Isolated unilateral hemispheric cerebellar hypoplasia</td></tr><tr><td>269221</td><td>Isolated bilateral hemispheric cerebellar hypoplasia</td></tr><tr><td>269229</td><td>Pontine tegmental cap dysplasia</td></tr><tr><td>269505</td><td>Congenital communicating hydrocephalus</td></tr><tr><td>269510</td><td>Congenital non-communicating hydrocephalus</td></tr><tr><td>271861</td><td>Hereditary ATTR amyloidosis</td></tr><tr><td>275517</td><td>Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency</td></tr><tr><td>275523</td><td>Dianzani autoimmune lymphoproliferative disease</td></tr><tr><td>275543</td><td>L1 syndrome</td></tr><tr><td>275555</td><td>Preeclampsia</td></tr><tr><td>275761</td><td>Lysosomal acid lipase deficiency</td></tr><tr><td>275766</td><td>Idiopathic pulmonary arterial hypertension</td></tr><tr><td>275777</td><td>Heritable pulmonary arterial hypertension</td></tr><tr><td>275864</td><td>Behavioral variant of frontotemporal dementia</td></tr><tr><td>275872</td><td>Frontotemporal dementia with motor neuron disease</td></tr><tr><td>275944</td><td>Hemolytic disease of the newborn with Kell alloimmunization</td></tr><tr><td>276066</td><td>Bile acid CoA ligase deficiency and defective amidation</td></tr><tr><td>276145</td><td>Malignant epithelial tumor of salivary glands</td></tr><tr><td>276148</td><td>Benign epithelial tumor of salivary glands</td></tr><tr><td>276152</td><td>Multiple endocrine neoplasia type 4</td></tr><tr><td>276174</td><td>Idiopathic recurrent stupor</td></tr><tr><td>276183</td><td>Spinocerebellar ataxia type 32</td></tr><tr><td>276193</td><td>Spinocerebellar ataxia type 35</td></tr><tr><td>276198</td><td>Spinocerebellar ataxia type 36</td></tr><tr><td>276212</td><td>Mucopolysaccharidosis type 6, rapidly progressing</td></tr><tr><td>276223</td><td>Mucopolysaccharidosis type 6, slowly progressing</td></tr><tr><td>276234</td><td>Non-syndromic male infertility due to sperm motility disorder</td></tr><tr><td>276238</td><td>Machado-Joseph disease type 1</td></tr><tr><td>276241</td><td>Machado-Joseph disease type 2</td></tr><tr><td>276244</td><td>Machado-Joseph disease type 3</td></tr><tr><td>276280</td><td>Hemihyperplasia-multiple lipomatosis syndrome</td></tr><tr><td>276399</td><td>Familial multinodular goiter</td></tr><tr><td>276405</td><td>Hyperbiliverdinemia</td></tr><tr><td>276413</td><td>10q22.3q23.3 microdeletion syndrome</td></tr><tr><td>276422</td><td>10q22.3q23.3 microduplication syndrome</td></tr><tr><td>276429</td><td>Hypnic headache</td></tr><tr><td>276432</td><td>Ogden syndrome</td></tr><tr><td>276435</td><td>Lower motor neuron syndrome with late-adult onset</td></tr><tr><td>276556</td><td>Hyperinsulinism due to UCP2 deficiency</td></tr><tr><td>276575</td><td>Autosomal dominant hyperinsulinism due to SUR1 deficiency</td></tr><tr><td>276580</td><td>Autosomal dominant hyperinsulinism due to Kir6.2 deficiency</td></tr><tr><td>276598</td><td>Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency</td></tr><tr><td>276603</td><td>Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency</td></tr><tr><td>276608</td><td>Non-insulinoma pancreatogenous hypoglycemia syndrome</td></tr><tr><td>276621</td><td>Sporadic pheochromocytoma/secreting paraganglioma</td></tr><tr><td>276630</td><td>Symptomatic form of Coffin-Lowry syndrome in female carriers</td></tr><tr><td>279882</td><td>Spasmus nutans</td></tr><tr><td>279888</td><td>Acute endophthalmitis</td></tr><tr><td>279891</td><td>Chronic endophthalmitis</td></tr><tr><td>279894</td><td>Toxic maculopathy due to antimalarial drugs</td></tr><tr><td>279897</td><td>Primary oculocerebral lymphoma</td></tr><tr><td>279904</td><td>Primary intraocular lymphoma</td></tr><tr><td>279914</td><td>Intermediate uveitis</td></tr><tr><td>279919</td><td>Infectious posterior uveitis</td></tr><tr><td>279922</td><td>Infectious anterior uveitis</td></tr><tr><td>279925</td><td>Infectious panuveitis</td></tr><tr><td>279928</td><td>Paraneoplastic uveitis</td></tr><tr><td>279934</td><td>Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency</td></tr><tr><td>279943</td><td>Hereditary neutrophilia</td></tr><tr><td>279947</td><td>Postorgasmic illness syndrome</td></tr><tr><td>280062</td><td>Calciphylaxis</td></tr><tr><td>280065</td><td>Calciphylaxis cutis</td></tr><tr><td>280068</td><td>Visceral calciphylaxis</td></tr><tr><td>280071</td><td>ALG11-CDG</td></tr><tr><td>280133</td><td>Complement component 3 deficiency</td></tr><tr><td>280142</td><td>Severe combined immunodeficiency due to LCK deficiency</td></tr><tr><td>280183</td><td>Methylmalonic aciduria due to transcobalamin receptor defect</td></tr><tr><td>280195</td><td>Septopreoptic holoprosencephaly</td></tr><tr><td>280200</td><td>Microform holoprosencephaly</td></tr><tr><td>280205</td><td>Laryngotracheoesophageal cleft type 0</td></tr><tr><td>280210</td><td>Pelizaeus-Merzbacher disease, connatal form</td></tr><tr><td>280219</td><td>Pelizaeus-Merzbacher disease, classic form</td></tr><tr><td>280224</td><td>Pelizaeus-Merzbacher disease, transitional form</td></tr><tr><td>280229</td><td>Pelizaeus-Merzbacher disease in female carriers</td></tr><tr><td>280234</td><td>Null syndrome</td></tr><tr><td>280270</td><td>Pelizaeus-Merzbacher-like disease</td></tr><tr><td>280282</td><td>Pelizaeus-Merzbacher-like disease due to GJC2 mutation</td></tr><tr><td>280288</td><td>Pelizaeus-Merzbacher-like disease due to HSPD1 mutation</td></tr><tr><td>280293</td><td>Pelizaeus-Merzbacher-like disease due to AIMP1 mutation</td></tr><tr><td>280302</td><td>Autoimmune pancreatitis type 1</td></tr><tr><td>280315</td><td>Autoimmune pancreatitis type 2</td></tr><tr><td>280325</td><td>Distal deletion 12p</td></tr><tr><td>280333</td><td>Alpha-dystroglycan-related limb-girdle muscular dystrophy R16</td></tr><tr><td>280356</td><td>PLIN1-related familial partial lipodystrophy</td></tr><tr><td>280365</td><td>Autosomal semi-dominant severe lipodystrophic laminopathy</td></tr><tr><td>280379</td><td>Erythropoietic uroporphyria associated with myeloid malignancy</td></tr><tr><td>280384</td><td>Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome</td></tr><tr><td>280397</td><td>Familial Alzheimer-like prion disease</td></tr><tr><td>280403</td><td>Familial omphalocele syndrome with facial dysmorphism</td></tr><tr><td>280406</td><td>Familial steroid-resistant nephrotic syndrome with sensorineural deafness</td></tr><tr><td>280553</td><td>Fatal infantile hypertonic myofibrillar myopathy</td></tr><tr><td>280558</td><td>Warsaw breakage syndrome</td></tr><tr><td>280576</td><td>Nestor-Guillermo progeria syndrome</td></tr><tr><td>280586</td><td>Chondrodysplasia with joint dislocations, gPAPP type</td></tr><tr><td>280598</td><td>Hereditary sensorimotor neuropathy with hyperelastic skin</td></tr><tr><td>280615</td><td>Hemoglobinopathy Toms River</td></tr><tr><td>280620</td><td>Progressive myoclonic epilepsy type 6</td></tr><tr><td>280628</td><td>Familial progressive hyper- and hypopigmentation</td></tr><tr><td>280633</td><td>Multiple congenital anomalies-hypotonia-seizures syndrome</td></tr><tr><td>280640</td><td>Occipital pachygyria and polymicrogyria</td></tr><tr><td>280654</td><td>Autosomal recessive nail dysplasia</td></tr><tr><td>280671</td><td>Megaconial congenital muscular dystrophy</td></tr><tr><td>280679</td><td>Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome</td></tr><tr><td>280763</td><td>Severe intellectual disability and progressive spastic paraplegia</td></tr><tr><td>280774</td><td>Generalized essential telangiectasia</td></tr><tr><td>280779</td><td>Cutaneous collagenous vasculopathy</td></tr><tr><td>280785</td><td>Bullous diffuse cutaneous mastocytosis</td></tr><tr><td>280794</td><td>Pseudoxanthomatous diffuse cutaneous mastocytosis</td></tr><tr><td>280802</td><td>Intralobar congenital pulmonary sequestration</td></tr><tr><td>280811</td><td>Extralobar congenital pulmonary sequestration</td></tr><tr><td>280821</td><td>Communicating congenital bronchopulmonary-foregut malformation</td></tr><tr><td>280827</td><td>Congenital pulmonary airway malformation type 0</td></tr><tr><td>280832</td><td>Congenital pulmonary airway malformation type 1</td></tr><tr><td>280840</td><td>Congenital pulmonary airway malformation type 2</td></tr><tr><td>280847</td><td>Congenital pulmonary airway malformation type 3</td></tr><tr><td>280854</td><td>Congenital pulmonary airway malformation type 4</td></tr><tr><td>280917</td><td>Idiopathic posterior uveitis</td></tr><tr><td>280921</td><td>Idiopathic panuveitis</td></tr><tr><td>281090</td><td>Syndromic recessive X-linked ichthyosis</td></tr><tr><td>281122</td><td>Self-improving collodion baby</td></tr><tr><td>281127</td><td>Acral self-healing collodion baby</td></tr><tr><td>281139</td><td>Annular epidermolytic ichthyosis</td></tr><tr><td>281190</td><td>Congenital reticular ichthyosiform erythroderma</td></tr><tr><td>281201</td><td>Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome</td></tr><tr><td>282166</td><td>Inherited Creutzfeldt-Jakob disease</td></tr><tr><td>284139</td><td>Larsen-like syndrome, B3GAT3 type</td></tr><tr><td>284149</td><td>Craniosynostosis-dental anomalies</td></tr><tr><td>284160</td><td>8q21.11 microdeletion syndrome</td></tr><tr><td>284169</td><td>Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion</td></tr><tr><td>284180</td><td>Xp22.13p22.2 duplication syndrome</td></tr><tr><td>284227</td><td>TEMPI syndrome</td></tr><tr><td>284232</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2O</td></tr><tr><td>284247</td><td>Familial retinal arterial macroaneurysm</td></tr><tr><td>284271</td><td>Autosomal recessive cerebellar ataxia-psychomotor delay syndrome</td></tr><tr><td>284282</td><td>Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency</td></tr><tr><td>284289</td><td>Adult-onset autosomal recessive cerebellar ataxia</td></tr><tr><td>284324</td><td>Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia</td></tr><tr><td>284332</td><td>Infantile-onset autosomal recessive nonprogressive cerebellar ataxia</td></tr><tr><td>284339</td><td>Pontocerebellar hypoplasia type 7</td></tr><tr><td>284343</td><td>DICER1 tumor-predisposition syndrome</td></tr><tr><td>284362</td><td>Fetal lung interstitial tumor</td></tr><tr><td>284388</td><td>Reversible cerebral vasoconstriction syndrome</td></tr><tr><td>284395</td><td>Well-differentiated fetal adenocarcinoma of the lung</td></tr><tr><td>284400</td><td>Small cell carcinoma of the bladder</td></tr><tr><td>284411</td><td>Glycerol kinase deficiency, juvenile form</td></tr><tr><td>284414</td><td>Glycerol kinase deficiency, adult form</td></tr><tr><td>284417</td><td>Phosphoserine aminotransferase deficiency, infantile/juvenile form</td></tr><tr><td>284426</td><td>Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency</td></tr><tr><td>284435</td><td>Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency</td></tr><tr><td>284448</td><td>CLIPPERS</td></tr><tr><td>284454</td><td>Acute zonal occult outer retinopathy</td></tr><tr><td>284460</td><td>Acute annular outer retinopathy</td></tr><tr><td>284963</td><td>Marfan syndrome type 1</td></tr><tr><td>284973</td><td>Marfan syndrome type 2</td></tr><tr><td>284979</td><td>Neonatal Marfan syndrome</td></tr><tr><td>284984</td><td>Aneurysm-osteoarthritis syndrome</td></tr><tr><td>289157</td><td>Hypocalcemic vitamin D-dependent rickets</td></tr><tr><td>289176</td><td>Autosomal recessive hypophosphatemic rickets</td></tr><tr><td>289266</td><td>Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation</td></tr><tr><td>289290</td><td>Hypermethioninemia encephalopathy due to adenosine kinase deficiency</td></tr><tr><td>289307</td><td>Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency</td></tr><tr><td>289326</td><td>Tropical spastic paraparesis</td></tr><tr><td>289347</td><td>Infective dermatitis associated with HTLV-1</td></tr><tr><td>289356</td><td>Primary non-gestational choriocarcinoma of ovary</td></tr><tr><td>289362</td><td>Non-central nervous system-localized embryonal carcinoma</td></tr><tr><td>289365</td><td>Familial vesicoureteral reflux</td></tr><tr><td>289377</td><td>Early-onset myopathy with fatal cardiomyopathy</td></tr><tr><td>289380</td><td>Myosclerosis</td></tr><tr><td>289385</td><td>Malignancy diagnosed during pregnancy</td></tr><tr><td>289390</td><td>Primary Sjögren syndrome</td></tr><tr><td>289465</td><td>Isolated congenital adermatoglyphia</td></tr><tr><td>289478</td><td>PASH syndrome</td></tr><tr><td>289483</td><td>Intellectual disability-alacrima-achalasia syndrome</td></tr><tr><td>289494</td><td>4H leukodystrophy</td></tr><tr><td>289499</td><td>Congenital cataract microcornea with corneal opacity</td></tr><tr><td>289504</td><td>Combined malonic and methylmalonic acidemia</td></tr><tr><td>289513</td><td>12q15q21.1 microdeletion syndrome</td></tr><tr><td>289522</td><td>Microtriplication 11q24.1</td></tr><tr><td>289539</td><td>BAP1-related tumor predisposition syndrome</td></tr><tr><td>289548</td><td>Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency</td></tr><tr><td>289553</td><td>Dysmorphism-conductive hearing loss-heart defect syndrome</td></tr><tr><td>289560</td><td>Mitochondrial membrane protein-associated neurodegeneration</td></tr><tr><td>289586</td><td>Exfoliative ichthyosis</td></tr><tr><td>289596</td><td>Juvenile nasopharyngeal angiofibroma</td></tr><tr><td>289601</td><td>Hereditary arterial and articular multiple calcification syndrome</td></tr><tr><td>289661</td><td>Epstein-Barr virus-positive diffuse large B-cell lymphoma</td></tr><tr><td>289666</td><td>Plasmablastic lymphoma</td></tr><tr><td>289682</td><td>Lymphoepithelial-like carcinoma</td></tr><tr><td>289685</td><td>Myopericytoma</td></tr><tr><td>289846</td><td>Glutathione synthetase deficiency with 5-oxoprolinuria</td></tr><tr><td>289849</td><td>Glutathione synthetase deficiency without 5-oxoprolinuria</td></tr><tr><td>289857</td><td>Neonatal glycine encephalopathy</td></tr><tr><td>289860</td><td>Infantile glycine encephalopathy</td></tr><tr><td>289863</td><td>Atypical glycine encephalopathy</td></tr><tr><td>289877</td><td>Transient hyperammonemia of the newborn</td></tr><tr><td>289891</td><td>Hypermethioninemia due to glycine N-methyltransferase deficiency</td></tr><tr><td>289916</td><td>Vitamin B12-unresponsive methylmalonic acidemia type mut0</td></tr><tr><td>293144</td><td>Familial clubfoot due to 5q31 microdeletion</td></tr><tr><td>293150</td><td>Familial clubfoot due to PITX1 point mutation</td></tr><tr><td>293165</td><td>Skin fragility-woolly hair-palmoplantar keratoderma syndrome</td></tr><tr><td>293168</td><td>Infantile-onset ascending hereditary spastic paralysis</td></tr><tr><td>293173</td><td>Acute generalized exanthematous pustulosis</td></tr><tr><td>293181</td><td>Malignant migrating focal seizures of infancy</td></tr><tr><td>293199</td><td>Pleomorphic rhabdomyosarcoma</td></tr><tr><td>293202</td><td>Epithelioid sarcoma</td></tr><tr><td>293208</td><td>Celiac artery compression syndrome</td></tr><tr><td>293284</td><td>Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria</td></tr><tr><td>293375</td><td>Grayson-Wilbrandt corneal dystrophy</td></tr><tr><td>293381</td><td>Epithelial recurrent erosion dystrophy</td></tr><tr><td>293462</td><td>Pre-Descemet corneal dystrophy</td></tr><tr><td>293603</td><td>Congenital hereditary endothelial dystrophy type II</td></tr><tr><td>293621</td><td>X-linked endothelial corneal dystrophy</td></tr><tr><td>293633</td><td>PYCR1-related De Barsy syndrome</td></tr><tr><td>293707</td><td>Blepharophimosis-intellectual disability syndrome, MKB type</td></tr><tr><td>293725</td><td>Blepharophimosis-intellectual disability syndrome, Verloes type</td></tr><tr><td>293807</td><td>Ketamine-induced biliary dilatation</td></tr><tr><td>293812</td><td>Fixed drug eruption</td></tr><tr><td>293822</td><td>MITF-related melanoma and renal cell carcinoma predisposition syndrome</td></tr><tr><td>293825</td><td>Congenital dyserythropoietic anemia type IV</td></tr><tr><td>293843</td><td>3MC syndrome</td></tr><tr><td>293864</td><td>Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome</td></tr><tr><td>293888</td><td>Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant</td></tr><tr><td>293899</td><td>Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant</td></tr><tr><td>293910</td><td>Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant</td></tr><tr><td>293925</td><td>Lethal occipital encephalocele-skeletal dysplasia syndrome</td></tr><tr><td>293936</td><td>EDICT syndrome</td></tr><tr><td>293939</td><td>Distal Xq28 microduplication syndrome</td></tr><tr><td>293948</td><td>1p21.3 microdeletion syndrome</td></tr><tr><td>293955</td><td>Childhood encephalopathy due to thiamine pyrophosphokinase deficiency</td></tr><tr><td>293958</td><td>Hypertelorism-preauricular sinus-punctual pits-deafness syndrome</td></tr><tr><td>293964</td><td>Hypoinsulinemic hypoglycemia and body hemihypertrophy</td></tr><tr><td>293967</td><td>Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome</td></tr><tr><td>293978</td><td>Deficiency in anterior pituitary function-variable immunodeficiency syndrome</td></tr><tr><td>293987</td><td>Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome</td></tr><tr><td>294016</td><td>Microcephaly-capillary malformation syndrome</td></tr><tr><td>294023</td><td>Neonatal inflammatory skin and bowel disease</td></tr><tr><td>294026</td><td>Syndactyly-nystagmus syndrome due to 2q31.1 microduplication</td></tr><tr><td>294415</td><td>Renal-hepatic-pancreatic dysplasia</td></tr><tr><td>294422</td><td>Chronic intestinal failure</td></tr><tr><td>294967</td><td>Isolated amelia of upper limb</td></tr><tr><td>294969</td><td>Isolated amelia of lower limb</td></tr><tr><td>294971</td><td>Isolated tetra-amelia</td></tr><tr><td>294973</td><td>Isolated humeral agenesis/hypoplasia</td></tr><tr><td>294975</td><td>Isolated absence of upper arm and forearm with hand present</td></tr><tr><td>294977</td><td>Isolated absence of thigh and lower leg with foot present</td></tr><tr><td>294979</td><td>Isolated absence of both forearm and hand</td></tr><tr><td>294981</td><td>Isolated absence of both lower leg and foot</td></tr><tr><td>294983</td><td>Isolated acheiria</td></tr><tr><td>294986</td><td>Isolated apodia</td></tr><tr><td>294988</td><td>Isolated hypoplasia of thumb</td></tr><tr><td>295000</td><td>Amniotic band syndrome</td></tr><tr><td>295002</td><td>Isolated hyperphalangy</td></tr><tr><td>295004</td><td>Central polydactyly</td></tr><tr><td>295012</td><td>Syndactyly type 6</td></tr><tr><td>295014</td><td>Familial isolated clinodactyly of fingers</td></tr><tr><td>295016</td><td>Camptodactyly of fingers</td></tr><tr><td>295018</td><td>Congenital pseudoarthrosis of the tibia</td></tr><tr><td>295020</td><td>Congenital pseudoarthrosis of the femur</td></tr><tr><td>295022</td><td>Congenital pseudoarthrosis of the fibula</td></tr><tr><td>295024</td><td>Congenital pseudoarthrosis of the radius</td></tr><tr><td>295026</td><td>Congenital pseudoarthrosis of the ulna</td></tr><tr><td>295028</td><td>Isolated tibio-fibular synostosis</td></tr><tr><td>295030</td><td>True congenital shoulder dislocation</td></tr><tr><td>295032</td><td>Isolated congenital radial head dislocation</td></tr><tr><td>295034</td><td>Congenital knee dislocation</td></tr><tr><td>295036</td><td>Congenital patella dislocation</td></tr><tr><td>295044</td><td>Macrodactyly of fingers</td></tr><tr><td>295047</td><td>Macrodactyly of toes</td></tr><tr><td>295049</td><td>Upper limb hypertrophy</td></tr><tr><td>295051</td><td>Lower limb hypertrophy</td></tr><tr><td>295187</td><td>Zygodactyly type 1</td></tr><tr><td>295189</td><td>Zygodactyly type 2</td></tr><tr><td>295191</td><td>Zygodactyly type 3</td></tr><tr><td>295193</td><td>Zygodactyly type 4</td></tr><tr><td>295195</td><td>Synpolydactyly type 1</td></tr><tr><td>295197</td><td>Synpolydactyly type 2</td></tr><tr><td>295199</td><td>Synpolydactyly type 3</td></tr><tr><td>295201</td><td>Congenital vertical talus, unilateral</td></tr><tr><td>295203</td><td>Congenital vertical talus, bilateral</td></tr><tr><td>295225</td><td>Congenital elbow dislocation, unilateral</td></tr><tr><td>295227</td><td>Congenital elbow dislocation, bilateral</td></tr><tr><td>295229</td><td>Congenital genu recurvatum</td></tr><tr><td>295232</td><td>Congenital genu flexum</td></tr><tr><td>295239</td><td>Macrodactyly of fingers, unilateral</td></tr><tr><td>295241</td><td>Macrodactyly of fingers, bilateral</td></tr><tr><td>295243</td><td>Macrodactyly of toes, unilateral</td></tr><tr><td>295245</td><td>Macrodactyly of toes, bilateral</td></tr><tr><td>300179</td><td>Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency</td></tr><tr><td>300284</td><td>Connective tissue disorder due to lysyl hydroxylase-3 deficiency</td></tr><tr><td>300293</td><td>Transient infantile hypertriglyceridemia and hepatosteatosis</td></tr><tr><td>300298</td><td>Severe congenital hypochromic anemia with ringed sideroblasts</td></tr><tr><td>300305</td><td>11p15.4 microduplication syndrome</td></tr><tr><td>300313</td><td>Congenital cataract-hearing loss-severe developmental delay syndrome</td></tr><tr><td>300319</td><td>Charcot-Marie-Tooth disease type 2P</td></tr><tr><td>300324</td><td>Persistent polyclonal B-cell lymphocytosis</td></tr><tr><td>300333</td><td>Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome</td></tr><tr><td>300345</td><td>Autosomal systemic lupus erythematosus</td></tr><tr><td>300359</td><td>PLCG2-associated antibody deficiency and immune dysregulation</td></tr><tr><td>300373</td><td>X-linked acrogigantism</td></tr><tr><td>300382</td><td>Progeroid and marfanoid aspect-lipodystrophy syndrome</td></tr><tr><td>300385</td><td>Pituitary carcinoma</td></tr><tr><td>300493</td><td>Sagliker syndrome</td></tr><tr><td>300496</td><td>Multiple congenital anomalies-hypotonia-seizures syndrome type 2</td></tr><tr><td>300501</td><td>Painful orbital and systemic neurofibromas-marfanoid habitus syndrome</td></tr><tr><td>300504</td><td>Onychocytic matricoma</td></tr><tr><td>300512</td><td>Onychomatricoma</td></tr><tr><td>300525</td><td>Pseudohypoaldosteronism type 2D</td></tr><tr><td>300530</td><td>Pseudohypoaldosteronism type 2E</td></tr><tr><td>300536</td><td>DDOST-CDG</td></tr><tr><td>300547</td><td>Autosomal recessive infantile hypercalcemia</td></tr><tr><td>300552</td><td>Follicular cholangitis and pancreatitis</td></tr><tr><td>300557</td><td>Carcinoma of the ampulla of Vater</td></tr><tr><td>300564</td><td>Combined pulmonary fibrosis-emphysema syndrome</td></tr><tr><td>300570</td><td>Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation</td></tr><tr><td>300573</td><td>Polymicrogyria due to TUBB2B mutation</td></tr><tr><td>300576</td><td>Oligodontia-cancer predisposition syndrome</td></tr><tr><td>300605</td><td>Juvenile amyotrophic lateral sclerosis</td></tr><tr><td>300751</td><td>Familial dilated cardiomyopathy with conduction defect due to LMNA mutation</td></tr><tr><td>300849</td><td>Diffuse large B-cell lymphoma of the central nervous system</td></tr><tr><td>300857</td><td>T-cell/histiocyte rich large B cell lymphoma</td></tr><tr><td>300865</td><td>Primary cutaneous anaplastic large cell lymphoma</td></tr><tr><td>300869</td><td>Splenic diffuse red pulp small B-cell lymphoma</td></tr><tr><td>300878</td><td>Hairy cell leukemia variant</td></tr><tr><td>300888</td><td>Diffuse large B-cell lymphoma with chronic inflammation</td></tr><tr><td>300895</td><td>ALK-positive anaplastic large cell lymphoma</td></tr><tr><td>300903</td><td>ALK-negative anaplastic large cell lymphoma</td></tr><tr><td>306431</td><td>Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies</td></tr><tr><td>306504</td><td>Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome</td></tr><tr><td>306511</td><td>Autosomal recessive spastic paraplegia type 48</td></tr><tr><td>306516</td><td>Primary hypomagnesemia with hypercalciuria and nephrocalcinosis</td></tr><tr><td>306527</td><td>Isolated hereditary congenital facial paralysis</td></tr><tr><td>306530</td><td>Congenital hereditary facial paralysis-variable hearing loss syndrome</td></tr><tr><td>306542</td><td>Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome</td></tr><tr><td>306547</td><td>Porencephaly-microcephaly-bilateral congenital cataract syndrome</td></tr><tr><td>306550</td><td>FADD-related immunodeficiency</td></tr><tr><td>306553</td><td>Myospherulosis</td></tr><tr><td>306558</td><td>Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome</td></tr><tr><td>306577</td><td>Hereditary sodium channelopathy-related small fibers neuropathy</td></tr><tr><td>306617</td><td>X-linked complicated spastic paraplegia type 1</td></tr><tr><td>306644</td><td>Complication after organ transplantation</td></tr><tr><td>306658</td><td>Familial normophosphatemic tumoral calcinosis</td></tr><tr><td>306661</td><td>Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome</td></tr><tr><td>306669</td><td>Hemiparkinsonism-hemiatrophy syndrome</td></tr><tr><td>306674</td><td>Kufor-Rakeb syndrome</td></tr><tr><td>306682</td><td>Manganese poisoning</td></tr><tr><td>306686</td><td>Delayed encephalopathy due to carbon monoxide poisoning</td></tr><tr><td>306692</td><td>Cyanide-induced parkinsonism-dystonia</td></tr><tr><td>306731</td><td>Sydenham chorea</td></tr><tr><td>306734</td><td>Primary dystonia, DYT21 type</td></tr><tr><td>306741</td><td>Hemidystonia-hemiatrophy syndrome</td></tr><tr><td>306776</td><td>Sporadic hyperekplexia</td></tr><tr><td>307766</td><td>Curly hair-acral keratoderma-caries syndrome</td></tr><tr><td>307936</td><td>Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome</td></tr><tr><td>308013</td><td>Focal acral hyperkeratosis</td></tr><tr><td>308380</td><td>Methylcobalamin deficiency type cblDv1</td></tr><tr><td>308386</td><td>Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A</td></tr><tr><td>308393</td><td>Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B</td></tr><tr><td>308400</td><td>Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C</td></tr><tr><td>308410</td><td>Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency</td></tr><tr><td>308425</td><td>Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency</td></tr><tr><td>308442</td><td>Vitamin B12-responsive methylmalonic acidemia, type cblDv2</td></tr><tr><td>308473</td><td>Erythrocyte galactose epimerase deficiency</td></tr><tr><td>308487</td><td>Generalized galactose epimerase deficiency</td></tr><tr><td>308552</td><td>Glycogen storage disease due to acid maltase deficiency, infantile onset</td></tr><tr><td>308621</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form</td></tr><tr><td>308638</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form</td></tr><tr><td>308655</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form</td></tr><tr><td>308670</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form</td></tr><tr><td>308684</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form</td></tr><tr><td>308698</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form</td></tr><tr><td>308712</td><td>Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form</td></tr><tr><td>309015</td><td>Familial lipoprotein lipase deficiency</td></tr><tr><td>309020</td><td>Familial apolipoprotein C-II deficiency</td></tr><tr><td>309025</td><td>Mevalonate kinase deficiency</td></tr><tr><td>309031</td><td>Pancreatic triacylglycerol lipase deficiency</td></tr><tr><td>309108</td><td>Pancreatic colipase deficiency</td></tr><tr><td>309111</td><td>Combined pancreatic lipase-colipase deficiency</td></tr><tr><td>309147</td><td>Hyper-beta-alaninemia</td></tr><tr><td>309155</td><td>Sandhoff disease, infantile form</td></tr><tr><td>309162</td><td>Sandhoff disease, juvenile form</td></tr><tr><td>309169</td><td>Sandhoff disease, adult form</td></tr><tr><td>309178</td><td>Tay-Sachs disease, infantile form</td></tr><tr><td>309185</td><td>Tay-Sachs disease, juvenile form</td></tr><tr><td>309192</td><td>Tay-Sachs disease, adult form</td></tr><tr><td>309246</td><td>GM2 gangliosidosis, AB variant</td></tr><tr><td>309252</td><td>Atypical Gaucher disease due to saposin C deficiency</td></tr><tr><td>309256</td><td>Metachromatic leukodystrophy, late infantile form</td></tr><tr><td>309263</td><td>Metachromatic leukodystrophy, juvenile form</td></tr><tr><td>309271</td><td>Metachromatic leukodystrophy, adult form</td></tr><tr><td>309282</td><td>Alpha-mannosidosis, infantile form</td></tr><tr><td>309288</td><td>Alpha-mannosidosis, adult form</td></tr><tr><td>309297</td><td>Mucopolysaccharidosis type 4A</td></tr><tr><td>309310</td><td>Mucopolysaccharidosis type 4B</td></tr><tr><td>309324</td><td>Free sialic acid storage disease, infantile form</td></tr><tr><td>309331</td><td>Intermediate severe Salla disease</td></tr><tr><td>309334</td><td>Salla disease</td></tr><tr><td>309789</td><td>Rhizomelic chondrodysplasia punctata type 1</td></tr><tr><td>309796</td><td>Rhizomelic chondrodysplasia punctata type 2</td></tr><tr><td>309803</td><td>Rhizomelic chondrodysplasia punctata type 3</td></tr><tr><td>309854</td><td>Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome</td></tr><tr><td>313772</td><td>Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome</td></tr><tr><td>313781</td><td>20p13 microdeletion syndrome</td></tr><tr><td>313795</td><td>Jawad syndrome</td></tr><tr><td>313800</td><td>Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome</td></tr><tr><td>313808</td><td>Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia</td></tr><tr><td>313838</td><td>Coats plus syndrome</td></tr><tr><td>313846</td><td>Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome</td></tr><tr><td>313850</td><td>Infantile cerebellar-retinal degeneration</td></tr><tr><td>313855</td><td>FGFR2-related bent bone dysplasia</td></tr><tr><td>313884</td><td>12p12.1 microdeletion syndrome</td></tr><tr><td>313892</td><td>Developmental and speech delay due to SOX5 deficiency</td></tr><tr><td>313906</td><td>Congenital pancreatic cyst</td></tr><tr><td>313920</td><td>Epstein-Barr virus-associated gastric carcinoma</td></tr><tr><td>313936</td><td>PENS syndrome</td></tr><tr><td>313947</td><td>2q23.1 microduplication syndrome</td></tr><tr><td>314002</td><td>Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome</td></tr><tr><td>314017</td><td>Idiopathic linear interstitial keratitis</td></tr><tr><td>314022</td><td>Gastric adenocarcinoma and proximal polyposis of the stomach</td></tr><tr><td>314029</td><td>High bone mass osteogenesis imperfecta</td></tr><tr><td>314034</td><td>7p22.1 microduplication syndrome</td></tr><tr><td>314041</td><td>Marfanoid habitus-inguinal hernia-advanced bone age syndrome</td></tr><tr><td>314051</td><td>Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome</td></tr><tr><td>314373</td><td>Chronic infantile diarrhea due to guanylate cyclase 2C overactivity</td></tr><tr><td>314376</td><td>Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency</td></tr><tr><td>314381</td><td>Hereditary sensory and autonomic neuropathy type 6</td></tr><tr><td>314389</td><td>Xq12-q13.3 duplication syndrome</td></tr><tr><td>314394</td><td>Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome</td></tr><tr><td>314399</td><td>Autosomal dominant aplasia and myelodysplasia</td></tr><tr><td>314404</td><td>Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome</td></tr><tr><td>314419</td><td>Ameloblastoma</td></tr><tr><td>314422</td><td>Ameloblastic carcinoma</td></tr><tr><td>314432</td><td>Spigelian hernia-cryptorchidism syndrome</td></tr><tr><td>314451</td><td>Meigs syndrome</td></tr><tr><td>314459</td><td>Pseudo-Meigs syndrome</td></tr><tr><td>314466</td><td>Atypical Meigs syndrome</td></tr><tr><td>314473</td><td>Ovarian fibroma</td></tr><tr><td>314478</td><td>Ovarian fibrothecoma</td></tr><tr><td>314485</td><td>Young adult-onset distal hereditary motor neuropathy</td></tr><tr><td>314555</td><td>Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome</td></tr><tr><td>314566</td><td>Primary progressive apraxia of speech</td></tr><tr><td>314572</td><td>Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome</td></tr><tr><td>314575</td><td>Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome</td></tr><tr><td>314585</td><td>15q overgrowth syndrome</td></tr><tr><td>314588</td><td>Distal triplication 15q</td></tr><tr><td>314597</td><td>Chudley-McCullough syndrome</td></tr><tr><td>314603</td><td>Autosomal recessive spastic ataxia with leukoencephalopathy</td></tr><tr><td>314613</td><td>Growing teratoma syndrome</td></tr><tr><td>314621</td><td>Duplication of the pituitary gland</td></tr><tr><td>314629</td><td>CLN11 disease</td></tr><tr><td>314632</td><td>CLN12 disease</td></tr><tr><td>314637</td><td>Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency</td></tr><tr><td>314647</td><td>Non-progressive cerebellar ataxia with intellectual disability</td></tr><tr><td>314652</td><td>Variant ABeta2M amyloidosis</td></tr><tr><td>314655</td><td>Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion</td></tr><tr><td>314662</td><td>Segmental progressive overgrowth syndrome with fibroadipose hyperplasia</td></tr><tr><td>314667</td><td>TMEM165-CDG</td></tr><tr><td>314679</td><td>Cerebrofacioarticular syndrome</td></tr><tr><td>314684</td><td>Primary bone lymphoma</td></tr><tr><td>314689</td><td>Combined immunodeficiency due to STK4 deficiency</td></tr><tr><td>314697</td><td>Acquired porencephaly</td></tr><tr><td>314701</td><td>Primary systemic amyloidosis</td></tr><tr><td>314709</td><td>Primary localized amyloidosis</td></tr><tr><td>314718</td><td>Lethal arteriopathy syndrome due to fibulin-4 deficiency</td></tr><tr><td>314721</td><td>Atypical dentin dysplasia due to SMOC2 deficiency</td></tr><tr><td>314769</td><td>Somatomammotropinoma</td></tr><tr><td>314777</td><td>Familial isolated pituitary adenoma</td></tr><tr><td>314786</td><td>Silent pituitary adenoma</td></tr><tr><td>314790</td><td>Null pituitary adenoma</td></tr><tr><td>314795</td><td>SHOX-related short stature</td></tr><tr><td>314802</td><td>Short stature due to partial GHR deficiency</td></tr><tr><td>314811</td><td>Short stature due to GHSR deficiency</td></tr><tr><td>314889</td><td>Autosomal dominant proximal renal tubular acidosis</td></tr><tr><td>314911</td><td>Severe Canavan disease</td></tr><tr><td>314918</td><td>Mild Canavan disease</td></tr><tr><td>314950</td><td>Primary hypereosinophilic syndrome</td></tr><tr><td>314962</td><td>Secondary hypereosinophilic syndrome</td></tr><tr><td>314970</td><td>Lymphocytic hypereosinophilic syndrome</td></tr><tr><td>314978</td><td>X-linked non progressive cerebellar ataxia</td></tr><tr><td>314993</td><td>Cataract-congenital heart disease-neural tube defect syndrome</td></tr><tr><td>315306</td><td>Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form</td></tr><tr><td>315311</td><td>Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form</td></tr><tr><td>317425</td><td>Severe combined immunodeficiency due to DNA-PKcs deficiency</td></tr><tr><td>317428</td><td>Combined immunodeficiency due to ORAI1 deficiency</td></tr><tr><td>317430</td><td>Combined immunodeficiency due to STIM1 deficiency</td></tr><tr><td>317473</td><td>Pancytopenia due to IKZF1 mutations</td></tr><tr><td>317476</td><td>XMEN</td></tr><tr><td>319160</td><td>Congenital myopathy with internal nuclei and atypical cores</td></tr><tr><td>319171</td><td>Distal 17p13.1 microdeletion syndrome</td></tr><tr><td>319182</td><td>Wiedemann-Steiner syndrome</td></tr><tr><td>319189</td><td>Familial cortical myoclonus</td></tr><tr><td>319192</td><td>Diencephalic-mesencephalic junction dysplasia</td></tr><tr><td>319195</td><td>Chondroectodermal dysplasia with night blindness</td></tr><tr><td>319199</td><td>Autosomal recessive spastic paraplegia type 53</td></tr><tr><td>319205</td><td>Bilateral massive adrenal hemorrhage</td></tr><tr><td>319213</td><td>Lujo hemorrhagic fever</td></tr><tr><td>319218</td><td>Ebola hemorrhagic fever</td></tr><tr><td>319223</td><td>Argentine hemorrhagic fever</td></tr><tr><td>319229</td><td>Bolivian hemorrhagic fever</td></tr><tr><td>319234</td><td>Venezuelan hemorrhagic fever</td></tr><tr><td>319239</td><td>Brazilian hemorrhagic fever</td></tr><tr><td>319244</td><td>Chapare hemorrhagic fever</td></tr><tr><td>319247</td><td>Hantavirus pulmonary syndrome</td></tr><tr><td>319251</td><td>Rift valley fever</td></tr><tr><td>319254</td><td>Kyasanur forest disease</td></tr><tr><td>319266</td><td>Omsk hemorrhagic fever</td></tr><tr><td>319276</td><td>Clear cell renal carcinoma</td></tr><tr><td>319287</td><td>Multilocular cystic renal neoplasm of low malignant potential</td></tr><tr><td>319298</td><td>Papillary renal cell carcinoma</td></tr><tr><td>319303</td><td>Chromophobe renal cell carcinoma</td></tr><tr><td>319308</td><td>MiT family translocation renal cell carcinoma</td></tr><tr><td>319319</td><td>Renal medullary carcinoma</td></tr><tr><td>319322</td><td>Mucinous tubular and spindle cell renal carcinoma</td></tr><tr><td>319325</td><td>Tubulocystic renal cell carcinoma</td></tr><tr><td>319332</td><td>Autosomal recessive myogenic arthrogryposis multiplex congenita</td></tr><tr><td>319340</td><td>Carney complex-trismus-pseudocamptodactyly syndrome</td></tr><tr><td>319462</td><td>Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations</td></tr><tr><td>319465</td><td>Inherited acute myeloid leukemia</td></tr><tr><td>319480</td><td>Acute myeloid leukemia with CEBPA somatic mutations</td></tr><tr><td>319487</td><td>Familial papillary or follicular thyroid carcinoma</td></tr><tr><td>319504</td><td>Combined oxidative phosphorylation defect type 8</td></tr><tr><td>319509</td><td>Combined oxidative phosphorylation defect type 9</td></tr><tr><td>319514</td><td>Combined oxidative phosphorylation defect type 13</td></tr><tr><td>319519</td><td>Combined oxidative phosphorylation defect type 14</td></tr><tr><td>319524</td><td>Combined oxidative phosphorylation defect type 15</td></tr><tr><td>319547</td><td>Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency</td></tr><tr><td>319552</td><td>Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency</td></tr><tr><td>319558</td><td>Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency</td></tr><tr><td>319563</td><td>Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency</td></tr><tr><td>319569</td><td>Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency</td></tr><tr><td>319574</td><td>Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency</td></tr><tr><td>319581</td><td>Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency</td></tr><tr><td>319589</td><td>Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency</td></tr><tr><td>319595</td><td>Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency</td></tr><tr><td>319600</td><td>Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency</td></tr><tr><td>319605</td><td>X-linked mendelian susceptibility to mycobacterial diseases</td></tr><tr><td>319612</td><td>X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency</td></tr><tr><td>319623</td><td>X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency</td></tr><tr><td>319635</td><td>Amyloidosis cutis dyschromia</td></tr><tr><td>319640</td><td>Retinal macular dystrophy type 2</td></tr><tr><td>319646</td><td>PGM1-CDG</td></tr><tr><td>319651</td><td>Constitutional megaloblastic anemia with severe neurologic disease</td></tr><tr><td>319667</td><td>Primary lymphoma of the conjunctiva</td></tr><tr><td>319671</td><td>Alazami syndrome</td></tr><tr><td>319675</td><td>Microcephalic primordial dwarfism, Dauber type</td></tr><tr><td>319678</td><td>Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome</td></tr><tr><td>320355</td><td>Autosomal dominant spastic paraplegia type 41</td></tr><tr><td>320360</td><td>MT-ATP6-related mitochondrial spastic paraplegia</td></tr><tr><td>320365</td><td>Autosomal dominant spastic paraplegia type 36</td></tr><tr><td>320370</td><td>Autosomal recessive spastic paraplegia type 43</td></tr><tr><td>320375</td><td>Autosomal recessive spastic paraplegia type 55</td></tr><tr><td>320380</td><td>Autosomal recessive spastic paraplegia type 54</td></tr><tr><td>320385</td><td>Hereditary sensory and autonomic neuropathy due to TECPR2 mutation</td></tr><tr><td>320391</td><td>Autosomal recessive spastic paraplegia type 46</td></tr><tr><td>320396</td><td>Autosomal recessive spastic paraplegia type 45</td></tr><tr><td>320401</td><td>Autosomal recessive spastic paraplegia type 44</td></tr><tr><td>320406</td><td>Spastic paraplegia-optic atrophy-neuropathy syndrome</td></tr><tr><td>320411</td><td>Autosomal recessive spastic paraplegia type 56</td></tr><tr><td>324262</td><td>Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency</td></tr><tr><td>324290</td><td>Early-onset Lafora body disease</td></tr><tr><td>324294</td><td>T-cell immunodeficiency with epidermodysplasia verruciformis</td></tr><tr><td>324299</td><td>Multiple paragangliomas associated with polycythemia</td></tr><tr><td>324307</td><td>Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome</td></tr><tr><td>324313</td><td>9p13 microdeletion syndrome</td></tr><tr><td>324321</td><td>Sinoatrial node dysfunction and deafness</td></tr><tr><td>324353</td><td>Congenital achiasma</td></tr><tr><td>324364</td><td>Mixed sclerosing bone dystrophy with extra-skeletal manifestations</td></tr><tr><td>324381</td><td>Hereditary inclusion body myopathy type 4</td></tr><tr><td>324410</td><td>X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome</td></tr><tr><td>324416</td><td>Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome</td></tr><tr><td>324422</td><td>ALG13-CDG</td></tr><tr><td>324442</td><td>Autosomal recessive axonal neuropathy with neuromyotonia</td></tr><tr><td>324525</td><td>Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation</td></tr><tr><td>324530</td><td>Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation</td></tr><tr><td>324535</td><td>Combined oxidative phosphorylation defect type 11</td></tr><tr><td>324540</td><td>Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome</td></tr><tr><td>324561</td><td>Hypopigmentation-punctate palmoplantar keratoderma syndrome</td></tr><tr><td>324569</td><td>Pontocerebellar hypoplasia type 8</td></tr><tr><td>324575</td><td>Hyperinsulinism due to HNF1A deficiency</td></tr><tr><td>324581</td><td>Benign Samaritan congenital myopathy</td></tr><tr><td>324585</td><td>Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain</td></tr><tr><td>324588</td><td>Familial dyskinesia and facial myokymia</td></tr><tr><td>324601</td><td>X-linked cleft palate and ankyloglossia</td></tr><tr><td>324604</td><td>Classic multiminicore myopathy</td></tr><tr><td>324611</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation</td></tr><tr><td>324625</td><td>Chikungunya</td></tr><tr><td>324632</td><td>Hendra virus infection</td></tr><tr><td>324636</td><td>Autoerythrocyte sensitization syndrome</td></tr><tr><td>324648</td><td>Invasive non-typhoidal salmonellosis</td></tr><tr><td>324703</td><td>ABetaL34V amyloidosis</td></tr><tr><td>324708</td><td>ABeta amyloidosis, Iowa type</td></tr><tr><td>324713</td><td>ABeta amyloidosis, Italian type</td></tr><tr><td>324718</td><td>ABetaA21G amyloidosis</td></tr><tr><td>324723</td><td>ABeta amyloidosis, Arctic type</td></tr><tr><td>324737</td><td>SRD5A3-CDG</td></tr><tr><td>324964</td><td>Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis</td></tr><tr><td>324972</td><td>MAGIC syndrome</td></tr><tr><td>324977</td><td>Proteasome-associated autoinflammatory syndrome</td></tr><tr><td>325124</td><td>Testicular agenesis</td></tr><tr><td>325345</td><td>46,XY ovotesticular difference of sex development</td></tr><tr><td>325448</td><td>Leydig cell hypoplasia due to LHB deficiency</td></tr><tr><td>325524</td><td>Classic congenital lipoid adrenal hyperplasia due to STAR deficency</td></tr><tr><td>325529</td><td>Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency</td></tr><tr><td>329173</td><td>Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis</td></tr><tr><td>329178</td><td>Congenital muscular dystrophy with intellectual disability and severe epilepsy</td></tr><tr><td>329191</td><td>Tall stature-long halluces-multiple extra-epiphyses syndrome</td></tr><tr><td>329195</td><td>Developmental delay with autism spectrum disorder and gait instability</td></tr><tr><td>329211</td><td>Autosomal dominant neovascular inflammatory vitreoretinopathy</td></tr><tr><td>329217</td><td>Cerebral sinovenous thrombosis</td></tr><tr><td>329224</td><td>Schuurs-Hoeijmakers syndrome</td></tr><tr><td>329228</td><td>Microcephalic primordial dwarfism due to ZNF335 deficiency</td></tr><tr><td>329235</td><td>X-linked central congenital hypothyroidism with late-onset testicular enlargement</td></tr><tr><td>329242</td><td>Congenital chronic diarrhea with protein-losing enteropathy</td></tr><tr><td>329249</td><td>Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency</td></tr><tr><td>329258</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2Q</td></tr><tr><td>329284</td><td>Beta-propeller protein-associated neurodegeneration</td></tr><tr><td>329308</td><td>Fatty acid hydroxylase-associated neurodegeneration</td></tr><tr><td>329314</td><td>Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency</td></tr><tr><td>329319</td><td>Thrombocythemia with distal limb defects</td></tr><tr><td>329324</td><td>Inverse Klippel-Trénaunay syndrome</td></tr><tr><td>329329</td><td>Autosomal recessive frontotemporal pachygyria</td></tr><tr><td>329332</td><td>Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome</td></tr><tr><td>329336</td><td>Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy</td></tr><tr><td>329457</td><td>Distal arthrogryposis type 5D</td></tr><tr><td>329466</td><td>Autosomal dominant focal dystonia, DYT25 type</td></tr><tr><td>329469</td><td>Acute megakaryoblastic leukemia in children without Down syndrome</td></tr><tr><td>329475</td><td>Spastic paraplegia-Paget disease of bone syndrome</td></tr><tr><td>329478</td><td>Adult-onset distal myopathy due to VCP mutation</td></tr><tr><td>329481</td><td>Lipoprotein glomerulopathy</td></tr><tr><td>329802</td><td>5p13 microduplication syndrome</td></tr><tr><td>329813</td><td>Mosaic genome-wide paternal uniparental disomy</td></tr><tr><td>329874</td><td>Idiopathic giant cell myocarditis</td></tr><tr><td>329883</td><td>Non-hypoproteinemic hypertrophic gastropathy</td></tr><tr><td>329894</td><td>Juvenile overlap myositis</td></tr><tr><td>329903</td><td>Immunoglobulin-mediated membranoproliferative glomerulonephritis</td></tr><tr><td>329918</td><td>C3 glomerulopathy</td></tr><tr><td>329931</td><td>C3 glomerulonephritis</td></tr><tr><td>329942</td><td>Transient neonatal multiple acyl-CoA dehydrogenase deficiency</td></tr><tr><td>329967</td><td>Intermittent hydrarthrosis</td></tr><tr><td>329971</td><td>Generalized juvenile polyposis/juvenile polyposis coli</td></tr><tr><td>329977</td><td>Classic neuroendocrine tumor of appendix</td></tr><tr><td>329984</td><td>Goblet cell carcinoma</td></tr><tr><td>330001</td><td>Wild type ATTR amyloidosis</td></tr><tr><td>330012</td><td>High altitude pulmonary edema</td></tr><tr><td>330015</td><td>Lead poisoning</td></tr><tr><td>330021</td><td>Mercury poisoning</td></tr><tr><td>330029</td><td>Hypotrichosis-deafness syndrome</td></tr><tr><td>330032</td><td>Hemoglobin Lepore-beta-thalassemia syndrome</td></tr><tr><td>330041</td><td>Hemoglobin M disease</td></tr><tr><td>330050</td><td>DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect</td></tr><tr><td>330054</td><td>Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome</td></tr><tr><td>330058</td><td>Hydroa vacciniforme</td></tr><tr><td>330061</td><td>Actinic prurigo</td></tr><tr><td>330064</td><td>Chronic actinic dermatitis</td></tr><tr><td>331176</td><td>Severe congenital neutropenia due to G6PC3 deficiency</td></tr><tr><td>331187</td><td>Immunodeficiency due to MASP-2 deficiency</td></tr><tr><td>331190</td><td>Immunodeficiency due to ficolin3 deficiency</td></tr><tr><td>331206</td><td>Severe combined immunodeficiency due to complete RAG1/2 deficiency</td></tr><tr><td>331226</td><td>Susceptibility to infection due to TYK2 deficiency</td></tr><tr><td>331235</td><td>Selective IgM deficiency</td></tr><tr><td>352328</td><td>MEGDEL syndrome</td></tr><tr><td>352333</td><td>Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome</td></tr><tr><td>352403</td><td>Spectrin-associated autosomal recessive cerebellar ataxia</td></tr><tr><td>352447</td><td>Progressive external ophthalmoplegia-myopathy-emaciation syndrome</td></tr><tr><td>352470</td><td>DNA2-related mitochondrial DNA deletion syndrome</td></tr><tr><td>352479</td><td>ISPD-related limb-girdle muscular dystrophy R20</td></tr><tr><td>352490</td><td>Autism spectrum disorder due to AUTS2 deficiency</td></tr><tr><td>352530</td><td>Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome</td></tr><tr><td>352540</td><td>Oncogenic osteomalacia</td></tr><tr><td>352563</td><td>Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency</td></tr><tr><td>352577</td><td>Bainbridge-Ropers syndrome</td></tr><tr><td>352582</td><td>Familial infantile myoclonic epilepsy</td></tr><tr><td>352587</td><td>Focal epilepsy-intellectual disability-cerebro-cerebellar malformation</td></tr><tr><td>352596</td><td>Progressive myoclonic epilepsy with dystonia</td></tr><tr><td>352629</td><td>16q24.1 microdeletion syndrome</td></tr><tr><td>352636</td><td>Phalangeal microgeodic syndrome</td></tr><tr><td>352641</td><td>Autosomal recessive cerebellar ataxia with late-onset spasticity</td></tr><tr><td>352649</td><td>Brain dopamine-serotonin vesicular transport disease</td></tr><tr><td>352654</td><td>Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome</td></tr><tr><td>352657</td><td>Hereditary benign intraepithelial dyskeratosis</td></tr><tr><td>352662</td><td>Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome</td></tr><tr><td>352665</td><td>Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion</td></tr><tr><td>352670</td><td>Autosomal dominant intermediate Charcot-Marie-Tooth disease type F</td></tr><tr><td>352675</td><td>X-linked Charcot-Marie-Tooth disease type 6</td></tr><tr><td>352682</td><td>Cobblestone lissencephaly without muscular or ocular involvement</td></tr><tr><td>352709</td><td>CLN13 disease</td></tr><tr><td>352712</td><td>Facial dysmorphism-immunodeficiency-livedo-short stature syndrome</td></tr><tr><td>352718</td><td>Progressive retinal dystrophy due to retinol transport defect</td></tr><tr><td>352723</td><td>Attenuated Chédiak-Higashi syndrome</td></tr><tr><td>352731</td><td>Oculocutaneous albinism type 1</td></tr><tr><td>352734</td><td>Minimal pigment oculocutaneous albinism type 1</td></tr><tr><td>352737</td><td>Temperature-sensitive oculocutaneous albinism type 1</td></tr><tr><td>352745</td><td>Oculocutaneous albinism type 7</td></tr><tr><td>352763</td><td>Scleredema</td></tr><tr><td>353217</td><td>Epileptic encephalopathy with global cerebral demyelination</td></tr><tr><td>353220</td><td>Familial primary localized cutaneous amyloidosis</td></tr><tr><td>353253</td><td>Burning mouth syndrome</td></tr><tr><td>353277</td><td>Rubinstein-Taybi syndrome due to CREBBP mutations</td></tr><tr><td>353281</td><td>Rubinstein-Taybi syndrome due to 16p13.3 microdeletion</td></tr><tr><td>353284</td><td>Rubinstein-Taybi syndrome due to EP300 haploinsufficiency</td></tr><tr><td>353298</td><td>Roifman syndrome</td></tr><tr><td>353308</td><td>Pyruvate carboxylase deficiency, infantile type</td></tr><tr><td>353314</td><td>Pyruvate carboxylase deficiency, severe neonatal type</td></tr><tr><td>353320</td><td>Pyruvate carboxylase deficiency, benign type</td></tr><tr><td>353327</td><td>Congenital myasthenic syndromes with glycosylation defect</td></tr><tr><td>353334</td><td>Congenital retinal arteriovenous communication</td></tr><tr><td>353344</td><td>Idiopathic macular telangiectasia type 1</td></tr><tr><td>353351</td><td>Idiopathic macular telangiectasia type 3</td></tr><tr><td>353356</td><td>Vasoproliferative tumor of the retina</td></tr><tr><td>356947</td><td>3q26q27 microdeletion syndrome</td></tr><tr><td>356961</td><td>SLC35A2-CDG</td></tr><tr><td>356978</td><td>D,L-2-hydroxyglutaric aciduria</td></tr><tr><td>356996</td><td>ANK3-related intellectual disability-sleep disturbance syndrome</td></tr><tr><td>357001</td><td>19p13.13 microdeletion syndrome</td></tr><tr><td>357008</td><td>Hemolytic uremic syndrome with DGKE deficiency</td></tr><tr><td>357027</td><td>Hereditary retinoblastoma</td></tr><tr><td>357034</td><td>Non-hereditary retinoblastoma</td></tr><tr><td>357043</td><td>Amyotrophic lateral sclerosis type 4</td></tr><tr><td>357058</td><td>Autosomal recessive cutis laxa type 2A</td></tr><tr><td>357064</td><td>Autosomal recessive cutis laxa type 2B</td></tr><tr><td>357074</td><td>Autosomal recessive cutis laxa type 2, classic type</td></tr><tr><td>357107</td><td>Arterial thoracic outlet syndrome</td></tr><tr><td>357131</td><td>Venous thoracic outlet syndrome</td></tr><tr><td>357154</td><td>Oral submucous fibrosis</td></tr><tr><td>357158</td><td>Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome</td></tr><tr><td>357175</td><td>Short ulna-dysmorphism-hypotonia-intellectual disability syndrome</td></tr><tr><td>357220</td><td>Primary essential cutis verticis gyrata</td></tr><tr><td>357225</td><td>Primary non-essential cutis verticis gyrata</td></tr><tr><td>357237</td><td>Combined immunodeficiency due to CARD11 deficiency</td></tr><tr><td>357329</td><td>Combined immunodeficiency due to IL21R deficiency</td></tr><tr><td>357332</td><td>Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome</td></tr><tr><td>363396</td><td>High myopia-sensorineural deafness syndrome</td></tr><tr><td>363400</td><td>Severe neurodegenerative syndrome with lipodystrophy</td></tr><tr><td>363409</td><td>Fetal akinesia-cerebral and retinal hemorrhage syndrome</td></tr><tr><td>363412</td><td>Hypomyelination with brain stem and spinal cord involvement and leg spasticity</td></tr><tr><td>363417</td><td>Temtamy preaxial brachydactyly syndrome</td></tr><tr><td>363424</td><td>Multiple mitochondrial dysfunctions syndrome type 3</td></tr><tr><td>363429</td><td>Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome</td></tr><tr><td>363432</td><td>Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency</td></tr><tr><td>363444</td><td>THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome</td></tr><tr><td>363447</td><td>Autosomal dominant childhood-onset proximal spinal muscular atrophy</td></tr><tr><td>363454</td><td>BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy</td></tr><tr><td>363478</td><td>Paratesticular adenocarcinoma</td></tr><tr><td>363483</td><td>Testicular teratoma</td></tr><tr><td>363489</td><td>Sex cord-stromal tumor of testis</td></tr><tr><td>363494</td><td>Non-seminomatous germ cell tumor of testis</td></tr><tr><td>363523</td><td>Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome</td></tr><tr><td>363528</td><td>Intellectual disability-strabismus syndrome</td></tr><tr><td>363534</td><td>Mitochondrial DNA depletion syndrome, hepatocerebrorenal form</td></tr><tr><td>363540</td><td>Leukoencephalopathy with mild cerebellar ataxia and white matter edema</td></tr><tr><td>363549</td><td>Acute encephalopathy with biphasic seizures and late reduced diffusion</td></tr><tr><td>363558</td><td>New-onset refractory status epilepticus</td></tr><tr><td>363611</td><td>CTCF-related neurodevelopmental disorder</td></tr><tr><td>363618</td><td>LMNA-related cardiocutaneous progeria syndrome</td></tr><tr><td>363623</td><td>GMPPB-related limb-girdle muscular dystrophy R19</td></tr><tr><td>363649</td><td>Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome</td></tr><tr><td>363654</td><td>X-linked parkinsonism-spasticity syndrome</td></tr><tr><td>363659</td><td>20q11.2 microduplication syndrome</td></tr><tr><td>363665</td><td>Acroosteolysis-keloid-like lesions-premature aging syndrome</td></tr><tr><td>363677</td><td>Childhood-onset autosomal recessive myopathy with external ophthalmoplegia</td></tr><tr><td>363680</td><td>2p13.2 microdeletion syndrome</td></tr><tr><td>363686</td><td>Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome</td></tr><tr><td>363694</td><td>Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome</td></tr><tr><td>363700</td><td>Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion</td></tr><tr><td>363705</td><td>Craniofaciofrontodigital syndrome</td></tr><tr><td>363710</td><td>Spinocerebellar ataxia type 37</td></tr><tr><td>363717</td><td>Alexander disease type I</td></tr><tr><td>363722</td><td>Alexander disease type II</td></tr><tr><td>363727</td><td>X-linked dyserythropoietic anemia with abnormal platelets and neutropenia</td></tr><tr><td>363741</td><td>Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome</td></tr><tr><td>363746</td><td>Balint syndrome</td></tr><tr><td>363958</td><td>17q21.31 microdeletion syndrome</td></tr><tr><td>363965</td><td>Koolen-De Vries syndrome due to a point mutation</td></tr><tr><td>363969</td><td>Autosomal recessive cerebral atrophy</td></tr><tr><td>363972</td><td>Noonan syndrome-like disorder with juvenile myelomonocytic leukemia</td></tr><tr><td>363976</td><td>Giant cell tumor of bone</td></tr><tr><td>363981</td><td>Charcot-Marie-Tooth disease type 4B3</td></tr><tr><td>363989</td><td>Familial benign flecked retina</td></tr><tr><td>363992</td><td>Ichthyosis-short stature-brachydactyly-microspherophakia syndrome</td></tr><tr><td>363999</td><td>Non-immune hydrops fetalis</td></tr><tr><td>364013</td><td>Immune hydrops fetalis</td></tr><tr><td>364028</td><td>X-linked intellectual disability due to GRIA3 mutations</td></tr><tr><td>364033</td><td>Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood</td></tr><tr><td>364039</td><td>Hydroa vacciniforme-like lymphoma</td></tr><tr><td>364043</td><td>ALK-positive large B-cell lymphoma</td></tr><tr><td>364055</td><td>Severe early-childhood-onset retinal dystrophy</td></tr><tr><td>364063</td><td>Infantile epileptic-dyskinetic encephalopathy</td></tr><tr><td>364198</td><td>Bipartite talus</td></tr><tr><td>364577</td><td>Intellectual disability-brachydactyly-Pierre Robin syndrome</td></tr><tr><td>369837</td><td>Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome</td></tr><tr><td>369840</td><td>TRAPPC11-related limb-girdle muscular dystrophy R18</td></tr><tr><td>369847</td><td>Intellectual disability-hyperkinetic movement-truncal ataxia syndrome</td></tr><tr><td>369852</td><td>Congenital neutropenia-myelofibrosis-nephromegaly syndrome</td></tr><tr><td>369861</td><td>Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome</td></tr><tr><td>369867</td><td>Autosomal recessive intermediate Charcot-Marie-Tooth disease type C</td></tr><tr><td>369873</td><td>Obesity due to SIM1 deficiency</td></tr><tr><td>369881</td><td>2p21 microdeletion syndrome without cystinuria</td></tr><tr><td>369891</td><td>Developmental delay-facial dysmorphism syndrome due to MED13L deficiency</td></tr><tr><td>369897</td><td>Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies</td></tr><tr><td>369913</td><td>Combined oxidative phosphorylation defect type 17</td></tr><tr><td>369920</td><td>Pontocerebellar hypoplasia type 9</td></tr><tr><td>369929</td><td>Primary hyperaldosteronism-seizures-neurological abnormalities syndrome</td></tr><tr><td>369939</td><td>Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome</td></tr><tr><td>369942</td><td>CADDS</td></tr><tr><td>369950</td><td>Intellectual disability-seizures-macrocephaly-obesity syndrome</td></tr><tr><td>369955</td><td>Methylmalonic acidemia with homocystinuria, type cblJ</td></tr><tr><td>369962</td><td>Methylmalonic acidemia with homocystinuria, type cblX</td></tr><tr><td>369970</td><td>Microcornea-myopic chorioretinal atrophy-telecanthus syndrome</td></tr><tr><td>369979</td><td>Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome</td></tr><tr><td>369992</td><td>Severe dermatitis-multiple allergies-metabolic wasting syndrome</td></tr><tr><td>369999</td><td>Diffuse palmoplantar keratoderma with painful fissures</td></tr><tr><td>370002</td><td>Focal palmoplantar keratoderma with joint keratoses</td></tr><tr><td>370010</td><td>Intellectual disability-facial dysmorphism-hand anomalies syndrome</td></tr><tr><td>370015</td><td>Spondyloepimetaphyseal dysplasia, Isidor-Toutain type</td></tr><tr><td>370022</td><td>Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome</td></tr><tr><td>370026</td><td>Acute myeloid leukemia with t(8;16)(p11;p13) translocation</td></tr><tr><td>370034</td><td>Familial syringomyelia</td></tr><tr><td>370039</td><td>Angora hair nevus</td></tr><tr><td>370046</td><td>Didymosis aplasticosebacea</td></tr><tr><td>370052</td><td>SCALP syndrome</td></tr><tr><td>370059</td><td>NEVADA syndrome</td></tr><tr><td>370076</td><td>Fetal carbamazepine syndrome</td></tr><tr><td>370079</td><td>Proximal 16p11.2 microduplication syndrome</td></tr><tr><td>370088</td><td>Acute infantile liver failure-multisystemic involvement syndrome</td></tr><tr><td>370091</td><td>Oculocutaneous albinism type 5</td></tr><tr><td>370097</td><td>Oculocutaneous albinism type 6</td></tr><tr><td>370103</td><td>Primary dystonia, DYT17 type</td></tr><tr><td>370109</td><td>Ataxia-telangiectasia variant</td></tr><tr><td>370127</td><td>Medich giant platelet syndrome</td></tr><tr><td>370131</td><td>White platelet syndrome</td></tr><tr><td>370334</td><td>Extraskeletal Ewing sarcoma</td></tr><tr><td>370348</td><td>Peripheral primitive neuroectodermal tumor</td></tr><tr><td>370396</td><td>Small cell carcinoma of the ovary</td></tr><tr><td>370921</td><td>STT3A-CDG</td></tr><tr><td>370924</td><td>STT3B-CDG</td></tr><tr><td>370927</td><td>SSR4-CDG</td></tr><tr><td>370930</td><td>XYLT1-CDG</td></tr><tr><td>370933</td><td>GM3 synthase deficiency</td></tr><tr><td>370943</td><td>Autism spectrum disorder-epilepsy-arthrogryposis syndrome</td></tr><tr><td>370959</td><td>Congenital muscular dystrophy with cerebellar involvement</td></tr><tr><td>370968</td><td>Congenital muscular dystrophy with intellectual disability</td></tr><tr><td>370980</td><td>Congenital muscular dystrophy without intellectual disability</td></tr><tr><td>370997</td><td>Muscle-eye-brain disease with bilateral multicystic leucodystrophy</td></tr><tr><td>371007</td><td>Congenital muscular dystrophy with hyperlaxity</td></tr><tr><td>371364</td><td>Hypotonia-speech impairment-severe cognitive delay syndrome</td></tr><tr><td>371428</td><td>Multicentric osteolysis-nodulosis-arthropathy spectrum</td></tr><tr><td>391307</td><td>Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome</td></tr><tr><td>391311</td><td>Susceptibility to viral and mycobacterial infections due to STAT1 deficiency</td></tr><tr><td>391316</td><td>Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression</td></tr><tr><td>391320</td><td>East Texas bleeding disorder</td></tr><tr><td>391327</td><td>X-linked calvarial hyperostosis</td></tr><tr><td>391330</td><td>X-linked osteoporosis with fractures</td></tr><tr><td>391343</td><td>Fatal post-viral neurodegenerative disorder</td></tr><tr><td>391348</td><td>Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome</td></tr><tr><td>391351</td><td>SURF1-related Charcot-Marie-Tooth disease type 4</td></tr><tr><td>391366</td><td>Growth retardation-mild developmental delay-chronic hepatitis syndrome</td></tr><tr><td>391372</td><td>FOXP1 Syndrome</td></tr><tr><td>391376</td><td>Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome</td></tr><tr><td>391384</td><td>Familial episodic pain syndrome</td></tr><tr><td>391389</td><td>Familial episodic pain syndrome with predominantly upper body involvement</td></tr><tr><td>391392</td><td>Familial episodic pain syndrome with predominantly lower limb involvement</td></tr><tr><td>391397</td><td>Hereditary sensory and autonomic neuropathy type 7</td></tr><tr><td>391408</td><td>Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome</td></tr><tr><td>391411</td><td>Atypical juvenile parkinsonism</td></tr><tr><td>391417</td><td>HSD10 disease</td></tr><tr><td>391428</td><td>HSD10 disease, infantile type</td></tr><tr><td>391457</td><td>HSD10 disease, neonatal type</td></tr><tr><td>391474</td><td>Frontorhiny</td></tr><tr><td>391487</td><td>STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome</td></tr><tr><td>391490</td><td>Adult-onset myasthenia gravis</td></tr><tr><td>391497</td><td>Juvenile myasthenia gravis</td></tr><tr><td>391504</td><td>Transient neonatal myasthenia gravis</td></tr><tr><td>391641</td><td>Feingold syndrome type 1</td></tr><tr><td>391646</td><td>Feingold syndrome type 2</td></tr><tr><td>391651</td><td>Glomus tumor</td></tr><tr><td>391655</td><td>Off-periods in Parkinson disease not responding to oral treatment</td></tr><tr><td>391665</td><td>Homozygous familial hypercholesterolemia</td></tr><tr><td>391673</td><td>Necrotizing enterocolitis</td></tr><tr><td>391677</td><td>Short stature-optic atrophy-Pelger-Huët anomaly syndrome</td></tr><tr><td>391723</td><td>Mucinous adenocarcinoma of the appendix</td></tr><tr><td>394529</td><td>Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type</td></tr><tr><td>394532</td><td>Multiple acyl-CoA dehydrogenase deficiency, mild type</td></tr><tr><td>397587</td><td>Deep dermatophytosis</td></tr><tr><td>397590</td><td>Silver-Russell syndrome due to a point mutation</td></tr><tr><td>397593</td><td>Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency</td></tr><tr><td>397596</td><td>Activated PI3K-delta syndrome</td></tr><tr><td>397606</td><td>PrP systemic amyloidosis</td></tr><tr><td>397612</td><td>Macrocephaly-developmental delay syndrome</td></tr><tr><td>397615</td><td>Obesity due to CEP19 deficiency</td></tr><tr><td>397618</td><td>Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome</td></tr><tr><td>397623</td><td>Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome</td></tr><tr><td>397685</td><td>Familial hyperprolactinemia</td></tr><tr><td>397692</td><td>Hereditary isolated aplastic anemia</td></tr><tr><td>397695</td><td>3q27.3 microdeletion syndrome</td></tr><tr><td>397709</td><td>Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome</td></tr><tr><td>397715</td><td>Joubert syndrome with Jeune asphyxiating thoracic dystrophy</td></tr><tr><td>397725</td><td>COASY protein-associated neurodegeneration</td></tr><tr><td>397735</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2U</td></tr><tr><td>397744</td><td>Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome</td></tr><tr><td>397750</td><td>Periodic paralysis with later-onset distal motor neuropathy</td></tr><tr><td>397755</td><td>Periodic paralysis with transient compartment-like syndrome</td></tr><tr><td>397758</td><td>Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies</td></tr><tr><td>397787</td><td>Severe combined immunodeficiency due to IKK2 deficiency</td></tr><tr><td>397922</td><td>Ferro-cerebro-cutaneous syndrome</td></tr><tr><td>397927</td><td>Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome</td></tr><tr><td>397933</td><td>Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome</td></tr><tr><td>397937</td><td>Polyglucosan body myopathy type 1</td></tr><tr><td>397941</td><td>MAN1B1-CDG</td></tr><tr><td>397946</td><td>Autosomal spastic paraplegia type 58</td></tr><tr><td>397951</td><td>Microcephaly-thin corpus callosum-intellectual disability syndrome</td></tr><tr><td>397959</td><td>TCR-alpha-beta-positive T-cell deficiency</td></tr><tr><td>397964</td><td>Combined immunodeficiency due to MALT1 deficiency</td></tr><tr><td>397968</td><td>Charcot-Marie-Tooth disease type 2R</td></tr><tr><td>397973</td><td>Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome</td></tr><tr><td>398053</td><td>Adenocarcinoma of the penis</td></tr><tr><td>398058</td><td>Squamous cell carcinoma of the penis</td></tr><tr><td>398063</td><td>Refractory celiac disease</td></tr><tr><td>398069</td><td>MAGEL2-related Prader-Willi-like syndrome</td></tr><tr><td>398079</td><td>SIM1-related Prader-Willi-like syndrome</td></tr><tr><td>398088</td><td>Hereditary cryohydrocytosis with normal stomatin</td></tr><tr><td>398097</td><td>Neonatal antiphospholipid syndrome</td></tr><tr><td>398109</td><td>Neonatal autoimmune hemolytic anemia</td></tr><tr><td>398117</td><td>Neonatal dermatomyositis</td></tr><tr><td>398124</td><td>Neonatal lupus erythematosus</td></tr><tr><td>398127</td><td>Neonatal scleroderma</td></tr><tr><td>398147</td><td>Persistent idiopathic facial pain</td></tr><tr><td>398156</td><td>Oculoauriculofrontonasal syndrome</td></tr><tr><td>398166</td><td>Focal facial dermal dysplasia</td></tr><tr><td>398173</td><td>Focal facial dermal dysplasia type II</td></tr><tr><td>398189</td><td>Focal facial dermal dysplasia type IV</td></tr><tr><td>398961</td><td>Mucinous adenocarcinoma of ovary</td></tr><tr><td>398971</td><td>Clear cell adenocarcinoma of the ovary</td></tr><tr><td>398987</td><td>Malignant teratoma of ovary</td></tr><tr><td>399058</td><td>Alpha-B crystallin-related late-onset myopathy</td></tr><tr><td>399081</td><td>KLHL9-related early-onset distal myopathy</td></tr><tr><td>399086</td><td>Finnish upper limb-onset distal myopathy</td></tr><tr><td>399096</td><td>Distal anoctaminopathy</td></tr><tr><td>399103</td><td>Distal nebulin myopathy</td></tr><tr><td>399175</td><td>Traumatic avascular necrosis</td></tr><tr><td>399180</td><td>Secondary non-traumatic avascular necrosis</td></tr><tr><td>399293</td><td>Osteonecrosis of the jaw</td></tr><tr><td>399307</td><td>Idiopathic avascular necrosis</td></tr><tr><td>399329</td><td>Epiphysiolysis of the hip</td></tr><tr><td>399805</td><td>Male infertility with azoospermia or oligozoospermia due to single gene mutation</td></tr><tr><td>399808</td><td>Male infertility with teratozoospermia due to single gene mutation</td></tr><tr><td>401764</td><td>Pancytopenia-developmental delay syndrome</td></tr><tr><td>401768</td><td>Proximal myopathy with extrapyramidal signs</td></tr><tr><td>401777</td><td>Optic atrophy-intellectual disability syndrome</td></tr><tr><td>401780</td><td>Autosomal recessive spastic paraplegia type 61</td></tr><tr><td>401785</td><td>Autosomal recessive spastic paraplegia type 62</td></tr><tr><td>401795</td><td>Autosomal recessive spastic paraplegia type 59</td></tr><tr><td>401800</td><td>Autosomal recessive spastic paraplegia type 60</td></tr><tr><td>401805</td><td>Autosomal recessive spastic paraplegia type 63</td></tr><tr><td>401810</td><td>Autosomal recessive spastic paraplegia type 64</td></tr><tr><td>401815</td><td>Autosomal recessive spastic paraplegia type 66</td></tr><tr><td>401820</td><td>Autosomal recessive spastic paraplegia type 67</td></tr><tr><td>401830</td><td>Autosomal recessive spastic paraplegia type 69</td></tr><tr><td>401835</td><td>Autosomal recessive spastic paraplegia type 70</td></tr><tr><td>401840</td><td>Autosomal recessive spastic paraplegia type 71</td></tr><tr><td>401849</td><td>Autosomal spastic paraplegia type 72</td></tr><tr><td>401859</td><td>Lipoic acid synthetase deficiency</td></tr><tr><td>401862</td><td>Lipoyl transferase 1 deficiency</td></tr><tr><td>401866</td><td>Childhood-onset spasticity with hyperglycinemia</td></tr><tr><td>401869</td><td>Multiple mitochondrial dysfunctions syndrome type 1</td></tr><tr><td>401874</td><td>Multiple mitochondrial dysfunctions syndrome type 2</td></tr><tr><td>401901</td><td>Huntington disease-like syndrome due to C9ORF72 expansions</td></tr><tr><td>401911</td><td>AXIN2-related attenuated familial adenomatous polyposis</td></tr><tr><td>401920</td><td>Fibrolamellar hepatocellular carcinoma</td></tr><tr><td>401923</td><td>9q31.1q31.3 microdeletion syndrome</td></tr><tr><td>401935</td><td>14q24.1q24.3 microdeletion syndrome</td></tr><tr><td>401942</td><td>Familial median cleft of the upper and lower lips</td></tr><tr><td>401945</td><td>Moyamoya disease with early-onset achalasia</td></tr><tr><td>401948</td><td>Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency</td></tr><tr><td>401953</td><td>Episodic ataxia with slurred speech</td></tr><tr><td>401959</td><td>Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome</td></tr><tr><td>401964</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons</td></tr><tr><td>401973</td><td>MEND syndrome</td></tr><tr><td>401979</td><td>Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type</td></tr><tr><td>401986</td><td>1p31p32 microdeletion syndrome</td></tr><tr><td>401996</td><td>Karyomegalic interstitial nephritis</td></tr><tr><td>402003</td><td>Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering</td></tr><tr><td>402014</td><td>Acute myeloid leukemia with t(6;9)(p23;q34)</td></tr><tr><td>402017</td><td>Acute myeloid leukemia with t(9;11)(p22;q23)</td></tr><tr><td>402020</td><td>Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)</td></tr><tr><td>402023</td><td>Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)</td></tr><tr><td>402026</td><td>Acute myeloid leukemia with NPM1 somatic mutations</td></tr><tr><td>402035</td><td>Eosinophilic colitis</td></tr><tr><td>402041</td><td>Autosomal recessive distal renal tubular acidosis</td></tr><tr><td>402075</td><td>Familial bicuspid aortic valve</td></tr><tr><td>402082</td><td>Progressive myoclonic epilepsy type 5</td></tr><tr><td>402364</td><td>Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly</td></tr><tr><td>402823</td><td>Hepatitis delta</td></tr><tr><td>404437</td><td>Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome</td></tr><tr><td>404440</td><td>Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency</td></tr><tr><td>404443</td><td>Tatton-Brown-Rahman syndrome</td></tr><tr><td>404448</td><td>ADNP syndrome</td></tr><tr><td>404451</td><td>FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome</td></tr><tr><td>404454</td><td>Alacrimia-choreoathetosis-liver dysfunction syndrome</td></tr><tr><td>404463</td><td>Multisystemic smooth muscle dysfunction syndrome</td></tr><tr><td>404466</td><td>Female infertility due to zona pellucida defect</td></tr><tr><td>404473</td><td>Severe intellectual disability-progressive spastic diplegia syndrome</td></tr><tr><td>404476</td><td>Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome</td></tr><tr><td>404493</td><td>Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency</td></tr><tr><td>404499</td><td>Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency</td></tr><tr><td>404507</td><td>Chondromyxoid fibroma</td></tr><tr><td>404511</td><td>Clear cell papillary renal cell carcinoma</td></tr><tr><td>404514</td><td>Acquired cystic disease-associated renal cell carcinoma</td></tr><tr><td>404521</td><td>Spinal muscular atrophy with respiratory distress type 2</td></tr><tr><td>404546</td><td>DITRA</td></tr><tr><td>404553</td><td>Adenosine deaminase 2 deficiency</td></tr><tr><td>404560</td><td>Familial atypical multiple mole melanoma syndrome</td></tr><tr><td>411493</td><td>Pontocerebellar hypoplasia type 10</td></tr><tr><td>411501</td><td>Williams-Campbell syndrome</td></tr><tr><td>411511</td><td>Angelman syndrome due to a point mutation</td></tr><tr><td>411515</td><td>Angelman syndrome due to imprinting defect in 15q11-q13</td></tr><tr><td>411527</td><td>Central retinal vein occlusion</td></tr><tr><td>411536</td><td>Mild phosphoribosylpyrophosphate synthetase superactivity</td></tr><tr><td>411543</td><td>Severe phosphoribosylpyrophosphate synthetase superactivity</td></tr><tr><td>411590</td><td>Wolfram-like syndrome</td></tr><tr><td>411593</td><td>Insulin autoimmune syndrome</td></tr><tr><td>411602</td><td>Hereditary late-onset Parkinson disease</td></tr><tr><td>411629</td><td>Infantile nephropathic cystinosis</td></tr><tr><td>411634</td><td>Juvenile nephropathic cystinosis</td></tr><tr><td>411641</td><td>Ocular cystinosis</td></tr><tr><td>411696</td><td>Proton-pump inhibitor-responsive esophageal eosinophilia</td></tr><tr><td>411703</td><td>Pulmonary non-tuberculous mycobacterial infection</td></tr><tr><td>411709</td><td>Renal agenesis</td></tr><tr><td>411712</td><td>Maternal riboflavin deficiency</td></tr><tr><td>411777</td><td>Generalized eruptive keratoacanthoma</td></tr><tr><td>411788</td><td>Familial isolated trichomegaly</td></tr><tr><td>411986</td><td>Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome</td></tr><tr><td>412022</td><td>Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome</td></tr><tr><td>412035</td><td>13q12.3 microdeletion syndrome</td></tr><tr><td>412057</td><td>Autosomal recessive cerebellar ataxia due to STUB1 deficiency</td></tr><tr><td>412066</td><td>PRKAR1B-related neurodegenerative dementia with intermediate filaments</td></tr><tr><td>412069</td><td>AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome</td></tr><tr><td>412181</td><td>Epidermolysis bullosa simplex due to BP230 deficiency</td></tr><tr><td>412189</td><td>Epidermolysis bullosa simplex due to exophilin 5 deficiency</td></tr><tr><td>412206</td><td>Primary failure of tooth eruption</td></tr><tr><td>412217</td><td>Dystonia-aphonia syndrome</td></tr><tr><td>418945</td><td>Carcinoma of esophagus, salivary gland type</td></tr><tr><td>418951</td><td>Undifferentiated carcinoma of esophagus</td></tr><tr><td>418959</td><td>Squamous cell carcinoma of the stomach</td></tr><tr><td>420179</td><td>Malan overgrowth syndrome</td></tr><tr><td>420259</td><td>Secondary pulmonary alveolar proteinosis</td></tr><tr><td>420402</td><td>Semicircular canal dehiscence syndrome</td></tr><tr><td>420429</td><td>Glycogen storage disease due to acid maltase deficiency, late-onset</td></tr><tr><td>420485</td><td>Cranio-cervical dystonia with laryngeal and upper-limb involvement</td></tr><tr><td>420492</td><td>Adult-onset cervical dystonia, DYT23 type</td></tr><tr><td>420556</td><td>Visual snow syndrome</td></tr><tr><td>420561</td><td>Temple-Baraitser syndrome</td></tr><tr><td>420566</td><td>Bleeding disorder due to CalDAG-GEFI deficiency</td></tr><tr><td>420573</td><td>Severe combined immunodeficiency due to CTPS1 deficiency</td></tr><tr><td>420584</td><td>Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome</td></tr><tr><td>420611</td><td>Transient myeloproliferative syndrome</td></tr><tr><td>420686</td><td>Woolly hair-palmoplantar keratoderma syndrome</td></tr><tr><td>420699</td><td>Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency</td></tr><tr><td>420702</td><td>Autosomal recessive severe congenital neutropenia due to CSF3R deficiency</td></tr><tr><td>420728</td><td>Combined oxidative phosphorylation defect type 20</td></tr><tr><td>420733</td><td>Combined oxidative phosphorylation defect type 21</td></tr><tr><td>420741</td><td>RIDDLE syndrome</td></tr><tr><td>420789</td><td>Autoimmune encephalopathy with parasomnia and obstructive sleep apnea</td></tr><tr><td>420794</td><td>Cono-spondylar dysplasia</td></tr><tr><td>422526</td><td>Hereditary clear cell renal cell carcinoma</td></tr><tr><td>423275</td><td>Spinocerebellar ataxia type 40</td></tr><tr><td>423296</td><td>Spinocerebellar ataxia type 38</td></tr><tr><td>423306</td><td>Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome</td></tr><tr><td>423384</td><td>Severe congenital neutropenia due to JAGN1 deficiency</td></tr><tr><td>423454</td><td>Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome</td></tr><tr><td>423461</td><td>Mucolipidosis type III alpha/beta</td></tr><tr><td>423470</td><td>Mucolipidosis type III gamma</td></tr><tr><td>423479</td><td>X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency</td></tr><tr><td>423693</td><td>Double outlet right ventricle with subaortic or doubly committed ventricular septal defect</td></tr><tr><td>423712</td><td>Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy</td></tr><tr><td>423717</td><td>Cutaneous larva migrans</td></tr><tr><td>423786</td><td>Undifferentiated carcinoma of stomach</td></tr><tr><td>423894</td><td>Microcephaly-complex motor and sensory axonal neuropathy syndrome</td></tr><tr><td>423968</td><td>Squamous cell carcinoma of the small intestine</td></tr><tr><td>423994</td><td>Squamous cell carcinoma of the colon</td></tr><tr><td>424002</td><td>Squamous cell carcinoma of the rectum</td></tr><tr><td>424016</td><td>Adenocarcinoma of the anal canal</td></tr><tr><td>424019</td><td>Squamous cell carcinoma of the anal canal</td></tr><tr><td>424027</td><td>Progressive myoclonic epilepsy type 8</td></tr><tr><td>424039</td><td>Squamous cell carcinoma of pancreas</td></tr><tr><td>424046</td><td>Acinar cell carcinoma of pancreas</td></tr><tr><td>424053</td><td>Mucinous cystadenocarcinoma of the pancreas</td></tr><tr><td>424058</td><td>Intraductal papillary mucinous carcinoma of pancreas</td></tr><tr><td>424065</td><td>Solid pseudopapillary carcinoma of pancreas</td></tr><tr><td>424073</td><td>Serous cystadenocarcinoma of pancreas</td></tr><tr><td>424080</td><td>Undifferentiated carcinoma with osteoclast-like giant cells of pancreas</td></tr><tr><td>424099</td><td>Colobomatous microphthalmia-rhizomelic dysplasia syndrome</td></tr><tr><td>424107</td><td>Congenital myopathy with myasthenic-like onset</td></tr><tr><td>424261</td><td>TOR1AIP1-related limb-girdle muscular dystrophy</td></tr><tr><td>424943</td><td>Adenocarcinoma of the liver and intrahepatic biliary tract</td></tr><tr><td>424970</td><td>Undifferentiated carcinoma of liver and intrahepatic biliary tract</td></tr><tr><td>424975</td><td>Squamous cell carcinoma of liver and intrahepatic biliary tract</td></tr><tr><td>424982</td><td>Biliary cystadenocarcinoma</td></tr><tr><td>424991</td><td>Adenocarcinoma of the gallbladder and extrahepatic biliary tract</td></tr><tr><td>424996</td><td>Squamous cell carcinoma of gallbladder and extrahepatic biliary tract</td></tr><tr><td>425120</td><td>STING-associated vasculopathy with onset in infancy</td></tr><tr><td>431140</td><td>X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome</td></tr><tr><td>431149</td><td>Combined immunodeficiency due to OX40 deficiency</td></tr><tr><td>431166</td><td>Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection</td></tr><tr><td>431255</td><td>Scapuloperoneal spinal muscular atrophy</td></tr><tr><td>431272</td><td>X-linked scapuloperoneal muscular dystrophy</td></tr><tr><td>431329</td><td>Autosomal recessive spastic paraplegia type 57</td></tr><tr><td>431341</td><td>Patent urachus</td></tr><tr><td>431344</td><td>Urachal sinus</td></tr><tr><td>431347</td><td>Urachal diverticulum</td></tr><tr><td>431361</td><td>Progressive encephalopathy with leukodystrophy due to DECR deficiency</td></tr><tr><td>434179</td><td>Orofaciodigital syndrome type 14</td></tr><tr><td>435329</td><td>Familial ossifying fibroma</td></tr><tr><td>435372</td><td>Anterior urethral valve</td></tr><tr><td>435387</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2Y</td></tr><tr><td>435438</td><td>Progressive myoclonic epilepsy type 7</td></tr><tr><td>435628</td><td>Keppen-Lubinsky syndrome</td></tr><tr><td>435638</td><td>3p25.3 microdeletion syndrome</td></tr><tr><td>435651</td><td>CIDEC-related familial partial lipodystrophy</td></tr><tr><td>435660</td><td>LIPE-related familial partial lipodystrophy</td></tr><tr><td>435804</td><td>Short stature-advanced bone age-early-onset osteoarthritis syndrome</td></tr><tr><td>435819</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation</td></tr><tr><td>435845</td><td>Lethal neonatal spasticity-epileptic encephalopathy syndrome</td></tr><tr><td>435930</td><td>Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome</td></tr><tr><td>435934</td><td>COG2-CDG</td></tr><tr><td>435938</td><td>X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome</td></tr><tr><td>435953</td><td>Progeroid features-hepatocellular carcinoma predisposition syndrome</td></tr><tr><td>435988</td><td>Chronic atrial and intestinal dysrhythmia syndrome</td></tr><tr><td>435998</td><td>Autosomal recessive intermediate Charcot-Marie-Tooth disease type D</td></tr><tr><td>436003</td><td>Contractures-developmental delay-Pierre Robin syndrome</td></tr><tr><td>436141</td><td>HIDEA syndrome</td></tr><tr><td>436144</td><td>Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome</td></tr><tr><td>436151</td><td>Intellectual disability-expressive aphasia-facial dysmorphism syndrome</td></tr><tr><td>436159</td><td>Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency</td></tr><tr><td>436166</td><td>Periodic fever-infantile enterocolitis-autoinflammatory syndrome</td></tr><tr><td>436169</td><td>Thrombomodulin-related bleeding disorder</td></tr><tr><td>436174</td><td>Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome</td></tr><tr><td>436182</td><td>Microcephalic primordial dwarfism-insulin resistance syndrome</td></tr><tr><td>436242</td><td>Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease</td></tr><tr><td>436245</td><td>Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome</td></tr><tr><td>436252</td><td>Combined immunodeficiency-enteropathy spectrum</td></tr><tr><td>436271</td><td>Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy</td></tr><tr><td>436274</td><td>Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa</td></tr><tr><td>437552</td><td>Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity</td></tr><tr><td>438075</td><td>Ketoacidosis due to monocarboxylate transporter-1 deficiency</td></tr><tr><td>438114</td><td>RARS-related autosomal recessive hypomyelinating leukodystrophy</td></tr><tr><td>438117</td><td>Steel syndrome</td></tr><tr><td>438134</td><td>PCNA-related progressive neurodegenerative photosensitivity syndrome</td></tr><tr><td>438159</td><td>STAT3-related early-onset multisystem autoimmune disease</td></tr><tr><td>438178</td><td>Fatty acyl-CoA reductase 1 deficiency</td></tr><tr><td>438207</td><td>Severe autosomal recessive macrothrombocytopenia</td></tr><tr><td>438213</td><td>PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome</td></tr><tr><td>438216</td><td>PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation</td></tr><tr><td>438266</td><td>Progressive encephalomyelitis with rigidity and myoclonus</td></tr><tr><td>438274</td><td>GCGR-related hyperglucagonemia</td></tr><tr><td>438279</td><td>Human infection by orthopoxvirus</td></tr><tr><td>439167</td><td>Placental insufficiency</td></tr><tr><td>439175</td><td>Pediatric arterial ischemic stroke</td></tr><tr><td>439196</td><td>Zinc-responsive necrolytic acral erythema</td></tr><tr><td>439202</td><td>Non-recovering obstetric brachial plexus lesion</td></tr><tr><td>439212</td><td>Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome</td></tr><tr><td>439218</td><td>KCNQ2-related epileptic encephalopathy</td></tr><tr><td>439224</td><td>ALECT2 amyloidosis</td></tr><tr><td>439232</td><td>AApoAIV amyloidosis</td></tr><tr><td>439254</td><td>ITM2B amyloidosis</td></tr><tr><td>439729</td><td>Cutaneous polyarteritis nodosa</td></tr><tr><td>439737</td><td>Primary polyarteritis nodosa</td></tr><tr><td>439746</td><td>Secondary polyarteritis nodosa</td></tr><tr><td>439755</td><td>Single-organ polyarteritis nodosa</td></tr><tr><td>439762</td><td>Systemic polyarteritis nodosa</td></tr><tr><td>439822</td><td>PDE4D haploinsufficiency syndrome</td></tr><tr><td>439854</td><td>Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease</td></tr><tr><td>439881</td><td>Plastic bronchitis</td></tr><tr><td>439897</td><td>Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome</td></tr><tr><td>440221</td><td>Congenital oculomotor nerve palsy</td></tr><tr><td>440233</td><td>Congenital abducens nerve palsy</td></tr><tr><td>440354</td><td>Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome</td></tr><tr><td>440368</td><td>Necrotizing soft tissue infection</td></tr><tr><td>440392</td><td>Interstitial lung disease due to SP-C deficiency</td></tr><tr><td>440402</td><td>Interstitial lung disease due to ABCA3 deficiency</td></tr><tr><td>440427</td><td>Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency</td></tr><tr><td>440437</td><td>Familial colorectal cancer Type X</td></tr><tr><td>440706</td><td>Ribose-5-P isomerase deficiency</td></tr><tr><td>440713</td><td>Isolated sedoheptulokinase deficiency</td></tr><tr><td>440724</td><td>Extensive peripapillary myelinated nerve fibers</td></tr><tr><td>440727</td><td>Combined hamartoma of the retina and retinal pigment epithelium</td></tr><tr><td>440731</td><td>L-ferritin deficiency</td></tr><tr><td>440987</td><td>Isolated agenesis of gallbladder</td></tr><tr><td>441447</td><td>Early-onset posterior subcapsular cataract</td></tr><tr><td>441452</td><td>Early-onset lamellar cataract</td></tr><tr><td>442582</td><td>AH amyloidosis</td></tr><tr><td>442835</td><td>Non-specific early-onset epileptic encephalopathy</td></tr><tr><td>443057</td><td>Sporadic porphyria cutanea tarda</td></tr><tr><td>443062</td><td>Familial porphyria cutanea tarda</td></tr><tr><td>443070</td><td>Hemicrania continua</td></tr><tr><td>443073</td><td>Charcot-Marie-Tooth disease type 2S</td></tr><tr><td>443079</td><td>Central serous chorioretinopathy</td></tr><tr><td>443084</td><td>Baroreflex failure</td></tr><tr><td>443087</td><td>46,XY difference of sex development due to testicular 17,20-desmolase deficiency</td></tr><tr><td>443098</td><td>Hyperostosis cranialis interna</td></tr><tr><td>443101</td><td>Hypothalamic adipsic hypernatraemia syndrome</td></tr><tr><td>443159</td><td>Lymphoplasmacytic lymphoma without IgM production</td></tr><tr><td>443162</td><td>NDE1-related microhydranencephaly</td></tr><tr><td>443167</td><td>NUT midline carcinoma</td></tr><tr><td>443173</td><td>Postpartum psychosis</td></tr><tr><td>443180</td><td>Spontaneous intracranial hypotension</td></tr><tr><td>443192</td><td>Classic stiff person syndrome</td></tr><tr><td>443197</td><td>X-linked erythropoietic protoporphyria</td></tr><tr><td>443227</td><td>Paratyphoid fever</td></tr><tr><td>443236</td><td>Postural orthostatic tachycardia syndrome due to NET deficiency</td></tr><tr><td>443291</td><td>HIV-associated cancer</td></tr><tr><td>443804</td><td>Focal stiff limb syndrome</td></tr><tr><td>443811</td><td>PGM3-CDG</td></tr><tr><td>443950</td><td>DNAJB2-related Charcot-Marie-Tooth disease type 2</td></tr><tr><td>443988</td><td>Ventriculomegaly-cystic kidney disease</td></tr><tr><td>443995</td><td>Mandibulofacial dysostosis with alopecia</td></tr><tr><td>444002</td><td>11q22.2q22.3 microdeletion syndrome</td></tr><tr><td>444013</td><td>Combined oxidative phosphorylation defect type 23</td></tr><tr><td>444048</td><td>46,XX ovarian dysgenesis-short stature syndrome</td></tr><tr><td>444051</td><td>20q11.2 microdeletion syndrome</td></tr><tr><td>444069</td><td>Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome</td></tr><tr><td>444072</td><td>Cerebellar-facial-dental syndrome</td></tr><tr><td>444077</td><td>Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome</td></tr><tr><td>444092</td><td>Autoimmune interstitial lung disease-arthritis syndrome</td></tr><tr><td>444099</td><td>Autosomal dominant spastic paraplegia type 73</td></tr><tr><td>444138</td><td>Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome</td></tr><tr><td>444316</td><td>Idiopathic phalangeal acro-osteolysis</td></tr><tr><td>444458</td><td>Combined oxidative phosphorylation defect type 24</td></tr><tr><td>444463</td><td>Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency</td></tr><tr><td>444490</td><td>Familial chylomicronemia syndrome</td></tr><tr><td>445018</td><td>Combined immunodeficiency due to LRBA deficiency</td></tr><tr><td>445038</td><td>3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome</td></tr><tr><td>445062</td><td>Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome</td></tr><tr><td>445110</td><td>Limb-girdle muscular dystrophy due to POMK deficiency</td></tr><tr><td>447731</td><td>NIK deficiency</td></tr><tr><td>447737</td><td>Combined immunodeficiency due to DOCK2 deficiency</td></tr><tr><td>447740</td><td>Susceptibility to localized juvenile periodontitis</td></tr><tr><td>447753</td><td>Autosomal dominant spastic paraplegia type 9A</td></tr><tr><td>447757</td><td>Autosomal dominant spastic paraplegia type 9B</td></tr><tr><td>447760</td><td>Autosomal recessive spastic paraplegia type 9B</td></tr><tr><td>447764</td><td>IgG4-related sclerosing cholangitis</td></tr><tr><td>447774</td><td>Secondary sclerosing cholangitis</td></tr><tr><td>447777</td><td>Keratocystic odontogenic tumor</td></tr><tr><td>447784</td><td>Mitochondrial pyruvate carrier deficiency</td></tr><tr><td>447788</td><td>Cerebral visual impairment</td></tr><tr><td>447795</td><td>Lipoyl transferase 2 deficiency</td></tr><tr><td>447877</td><td>Polymerase proofreading-related adenomatous polyposis</td></tr><tr><td>447881</td><td>Idiopathic dropped head syndrome</td></tr><tr><td>447893</td><td>Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome</td></tr><tr><td>447896</td><td>Tremor-ataxia-central hypomyelination syndrome</td></tr><tr><td>447954</td><td>Combined oxidative phosphorylation defect type 25</td></tr><tr><td>447961</td><td>Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome</td></tr><tr><td>447964</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2V</td></tr><tr><td>447974</td><td>Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome</td></tr><tr><td>447977</td><td>Progressive scapulohumeroperoneal distal myopathy</td></tr><tr><td>447980</td><td>19p13.3 microduplication syndrome</td></tr><tr><td>447997</td><td>Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome</td></tr><tr><td>448010</td><td>CAD-CDG</td></tr><tr><td>448237</td><td>Zika virus disease</td></tr><tr><td>448242</td><td>Autosomal recessive brachyolmia</td></tr><tr><td>448251</td><td>Progressive autosomal recessive ataxia-deafness syndrome</td></tr><tr><td>448264</td><td>Isolated focal non-epidermolytic palmoplantar keratoderma</td></tr><tr><td>448267</td><td>Regressive spondylometaphyseal dysplasia</td></tr><tr><td>448270</td><td>Ectopia cordis</td></tr><tr><td>449266</td><td>Pleural empyema</td></tr><tr><td>449280</td><td>Scedosporiosis</td></tr><tr><td>449285</td><td>Snakebite envenomation</td></tr><tr><td>449291</td><td>Symptomatic form of fragile X syndrome in female carriers</td></tr><tr><td>449395</td><td>IgG4-related kidney disease</td></tr><tr><td>449400</td><td>IgG4-related aortitis</td></tr><tr><td>449427</td><td>IgG4-related pachymeningitis</td></tr><tr><td>449432</td><td>IgG4-related submandibular gland disease</td></tr><tr><td>449563</td><td>IgG4-related ophthalmic disease</td></tr><tr><td>449566</td><td>Eosinophilic angiocentric fibrosis</td></tr><tr><td>450322</td><td>Polyclonal hyperviscosity syndrome</td></tr><tr><td>451602</td><td>Primary cutaneous plasmacytosis</td></tr><tr><td>451607</td><td>Cutaneous pseudolymphoma</td></tr><tr><td>451612</td><td>Familial congenital nasolacrimal duct obstruction</td></tr><tr><td>453499</td><td>Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome</td></tr><tr><td>453504</td><td>Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation</td></tr><tr><td>453510</td><td>Congenital insensitivity to pain with severe intellectual disability</td></tr><tr><td>453521</td><td>Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency</td></tr><tr><td>453533</td><td>Polyendocrine-polyneuropathy syndrome</td></tr><tr><td>454706</td><td>Progressive muscular atrophy</td></tr><tr><td>454710</td><td>Anti-p200 pemphigoid</td></tr><tr><td>454714</td><td>Plasma cell leukemia</td></tr><tr><td>454718</td><td>Holmes-Adie syndrome</td></tr><tr><td>454723</td><td>Endometrioid carcinoma of ovary</td></tr><tr><td>454742</td><td>Variably protease-sensitive prionopathy</td></tr><tr><td>454745</td><td>Kuru</td></tr><tr><td>454750</td><td>Isolated tracheoesophageal fistula</td></tr><tr><td>454821</td><td>Pleomorphic salivary gland adenoma</td></tr><tr><td>454831</td><td>Acute radiation syndrome</td></tr><tr><td>454836</td><td>Avian influenza</td></tr><tr><td>454840</td><td>NTHL1-related attenuated familial adenomatous polyposis</td></tr><tr><td>454887</td><td>Corticobasal syndrome</td></tr><tr><td>456298</td><td>1p35.2 microdeletion syndrome</td></tr><tr><td>456312</td><td>Infantile multisystem neurologic-endocrine-pancreatic disease</td></tr><tr><td>456318</td><td>Hereditary sensory neuropathy-deafness-dementia syndrome</td></tr><tr><td>456328</td><td>X-linked myotubular myopathy-abnormal genitalia syndrome</td></tr><tr><td>456333</td><td>Hereditary neuroendocrine tumor of small intestine</td></tr><tr><td>456369</td><td>Polyglucosan body myopathy type 2</td></tr><tr><td>457050</td><td>Autosomal dominant mitochondrial myopathy with exercise intolerance</td></tr><tr><td>457077</td><td>TAFRO syndrome</td></tr><tr><td>457083</td><td>Isolated splenogonadal fusion</td></tr><tr><td>457088</td><td>Predisposition to invasive fungal disease due to CARD9 deficiency</td></tr><tr><td>457095</td><td>Actinomycosis</td></tr><tr><td>457185</td><td>Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome</td></tr><tr><td>457193</td><td>Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome</td></tr><tr><td>457205</td><td>Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome</td></tr><tr><td>457212</td><td>Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome</td></tr><tr><td>457223</td><td>Syndromic sensorineural deafness due to combined oxidative phosphorylation defect</td></tr><tr><td>457240</td><td>X-linked intellectual disability-short stature-overweight syndrome</td></tr><tr><td>457246</td><td>Clear cell sarcoma of kidney</td></tr><tr><td>457260</td><td>X-linked intellectual disability-hypotonia-movement disorder syndrome</td></tr><tr><td>457265</td><td>Progressive myoclonic epilepsy type 9</td></tr><tr><td>457279</td><td>Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome</td></tr><tr><td>457284</td><td>Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome</td></tr><tr><td>457351</td><td>Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome</td></tr><tr><td>457359</td><td>Megalencephaly-severe kyphoscoliosis-overgrowth syndrome</td></tr><tr><td>457365</td><td>Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome</td></tr><tr><td>457375</td><td>ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement</td></tr><tr><td>457378</td><td>Complex lethal osteochondrodysplasia</td></tr><tr><td>457395</td><td>Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome</td></tr><tr><td>457406</td><td>Multiple mitochondrial dysfunctions syndrome type 4</td></tr><tr><td>457485</td><td>Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome</td></tr><tr><td>458718</td><td>Idiopathic spontaneous coronary artery dissection</td></tr><tr><td>458758</td><td>Composite hemangioendothelioma</td></tr><tr><td>458763</td><td>Retiform hemangioendothelioma</td></tr><tr><td>458768</td><td>Papillary intralymphatic angioendothelioma</td></tr><tr><td>458785</td><td>Partially involuting congenital hemangioma</td></tr><tr><td>458792</td><td>Mixed cystic lymphatic malformation</td></tr><tr><td>458798</td><td>Spinocerebellar ataxia type 41</td></tr><tr><td>458803</td><td>Spinocerebellar ataxia type 42</td></tr><tr><td>459033</td><td>Ataxia-oculomotor apraxia type 4</td></tr><tr><td>459051</td><td>Spondyloepiphyseal dysplasia, Stanescu type</td></tr><tr><td>459056</td><td>Autosomal recessive spastic paraplegia type 75</td></tr><tr><td>459061</td><td>Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome</td></tr><tr><td>459070</td><td>X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome</td></tr><tr><td>459074</td><td>Corpus callosum agenesis-macrocephaly-hypertelorism syndrome</td></tr><tr><td>464282</td><td>Spastic paraplegia-severe developmental delay-epilepsy syndrome</td></tr><tr><td>464288</td><td>Short stature-brachydactyly-obesity-global developmental delay syndrome</td></tr><tr><td>464306</td><td>DYRK1A-related intellectual disability syndrome</td></tr><tr><td>464311</td><td>Intellectual disability syndrome due to a DYRK1A point mutation</td></tr><tr><td>464318</td><td>Verrucous hemangioma</td></tr><tr><td>464321</td><td>Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome</td></tr><tr><td>464329</td><td>Kaposiform lymphangiomatosis</td></tr><tr><td>464336</td><td>BENTA disease</td></tr><tr><td>464343</td><td>Catastrophic antiphospholipid syndrome</td></tr><tr><td>464359</td><td>Benign metanephric tumor</td></tr><tr><td>464366</td><td>NEK9-related lethal skeletal dysplasia</td></tr><tr><td>464370</td><td>Neonatal alloimmune neutropenia</td></tr><tr><td>464440</td><td>Primary dystonia, DYT27 type</td></tr><tr><td>464443</td><td>COG6-CGD</td></tr><tr><td>464453</td><td>Acquired methemoglobinemia</td></tr><tr><td>464458</td><td>Paracetamol poisoning</td></tr><tr><td>464724</td><td>Fever-associated acute infantile liver failure syndrome</td></tr><tr><td>464738</td><td>Basel-Vanagaite-Smirin-Yosef syndrome</td></tr><tr><td>464756</td><td>Familial gastric type 1 neuroendocrine tumor</td></tr><tr><td>464760</td><td>Familial cavitary optic disc anomaly</td></tr><tr><td>465508</td><td>Symptomatic form of HFE-related hemochromatosis</td></tr><tr><td>465824</td><td>Fetal encasement syndrome</td></tr><tr><td>466026</td><td>Class I glucose-6-phosphate dehydrogenase deficiency</td></tr><tr><td>466650</td><td>Exercise-induced malignant hyperthermia</td></tr><tr><td>466670</td><td>Cyanide poisoning</td></tr><tr><td>466677</td><td>Scorpion envenomation</td></tr><tr><td>466682</td><td>Euthyroid Graves orbitopathy</td></tr><tr><td>466688</td><td>Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome</td></tr><tr><td>466695</td><td>Supratip dysplasia</td></tr><tr><td>466703</td><td>TMEM199-CDG</td></tr><tr><td>466718</td><td>Martinique crinkled retinal pigment epitheliopathy</td></tr><tr><td>466722</td><td>Autosomal recessive spastic paraplegia type 77</td></tr><tr><td>466729</td><td>Familial patent arterial duct</td></tr><tr><td>466768</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2Z</td></tr><tr><td>466775</td><td>Autosomal recessive Charcot-Marie-Tooth disease type 2X</td></tr><tr><td>466784</td><td>Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect</td></tr><tr><td>466791</td><td>Macrocephaly-intellectual disability-left ventricular non compaction syndrome</td></tr><tr><td>466794</td><td>Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome</td></tr><tr><td>466806</td><td>Autosomal dominant thrombocytopenia with platelet secretion defect</td></tr><tr><td>466921</td><td>Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome</td></tr><tr><td>466926</td><td>Seizures-scoliosis-macrocephaly syndrome</td></tr><tr><td>466934</td><td>VPS11-related autosomal recessive hypomyelinating leukodystrophy</td></tr><tr><td>466943</td><td>WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome</td></tr><tr><td>466950</td><td>Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation</td></tr><tr><td>466962</td><td>SMARCA4-deficient sarcoma of thorax</td></tr><tr><td>467166</td><td>Tubulinopathy-associated dysgyria</td></tr><tr><td>467176</td><td>Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome</td></tr><tr><td>468620</td><td>Intellectual disability-epilepsy-extrapyramidal syndrome</td></tr><tr><td>468631</td><td>Microcephalic cortical malformations-short stature due to RTTN deficiency</td></tr><tr><td>468635</td><td>Cryptogenic multifocal ulcerous stenosing enteritis</td></tr><tr><td>468641</td><td>Chronic enteropathy associated with SLCO2A1 gene</td></tr><tr><td>468661</td><td>Autosomal recessive spastic paraplegia type 74</td></tr><tr><td>468666</td><td>Isolated generalized anhidrosis with normal sweat glands</td></tr><tr><td>468672</td><td>Colobomatous macrophthalmia-microcornea syndrome</td></tr><tr><td>468678</td><td>White-Sutton syndrome</td></tr><tr><td>468684</td><td>CCDC115-CDG</td></tr><tr><td>468699</td><td>SLC39A8-CDG</td></tr><tr><td>468717</td><td>Rhizomelic chondrodysplasia punctata type 5</td></tr><tr><td>468726</td><td>Severe primary trimethylaminuria</td></tr><tr><td>476084</td><td>BVES-related limb-girdle muscular dystrophy</td></tr><tr><td>476093</td><td>Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome</td></tr><tr><td>476096</td><td>Erythrokeratodermia-cardiomyopathy syndrome</td></tr><tr><td>476113</td><td>Combined immunodeficiency due to TFRC deficiency</td></tr><tr><td>476119</td><td>Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome</td></tr><tr><td>476126</td><td>Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome</td></tr><tr><td>476394</td><td>PMP2-related Charcot-Marie-Tooth disease type 1</td></tr><tr><td>476406</td><td>Congenital generalized hypercontractile muscle stiffness syndrome</td></tr><tr><td>477650</td><td>Fibroblastic rheumatism</td></tr><tr><td>477661</td><td>IL21-related infantile inflammatory bowel disease</td></tr><tr><td>477673</td><td>Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome</td></tr><tr><td>477684</td><td>Combined oxidative phosphorylation defect type 26</td></tr><tr><td>477738</td><td>Pediatric multiple sclerosis</td></tr><tr><td>477742</td><td>Nodular fasciitis</td></tr><tr><td>477749</td><td>Pontine autosomal dominant microangiopathy with leukoencephalopathy</td></tr><tr><td>477774</td><td>Combined oxidative phosphorylation defect type 27</td></tr><tr><td>477781</td><td>Primary condylar hyperplasia</td></tr><tr><td>477787</td><td>Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder</td></tr><tr><td>477814</td><td>Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome</td></tr><tr><td>477817</td><td>PMP22-RAI1 contiguous gene duplication syndrome</td></tr><tr><td>477831</td><td>Kosaki overgrowth syndrome</td></tr><tr><td>477857</td><td>Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency</td></tr><tr><td>477993</td><td>Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome</td></tr><tr><td>478029</td><td>Combined oxidative phosphorylation defect type 29</td></tr><tr><td>478042</td><td>Combined oxidative phosphorylation defect type 30</td></tr><tr><td>478049</td><td>Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome</td></tr><tr><td>478664</td><td>Hereditary sensory and autonomic neuropathy type 8</td></tr><tr><td>480476</td><td>Progressive familial intrahepatic cholestasis type 5</td></tr><tr><td>480483</td><td>Progressive familial intrahepatic cholestasis type 4</td></tr><tr><td>480491</td><td>MYO5B-related progressive familial intrahepatic cholestasis</td></tr><tr><td>480501</td><td>Choledochal cyst</td></tr><tr><td>480506</td><td>Primary intrahepatic lithiasis</td></tr><tr><td>480512</td><td>Idiopathic ductopenia</td></tr><tr><td>480520</td><td>Caroli syndrome</td></tr><tr><td>480524</td><td>Idiopathic peliosis hepatis</td></tr><tr><td>480528</td><td>Lethal hydranencephaly-diaphragmatic hernia syndrome</td></tr><tr><td>480531</td><td>Congenital portosystemic shunt</td></tr><tr><td>480536</td><td>MSH3-related attenuated familial adenomatous polyposis</td></tr><tr><td>480541</td><td>High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement</td></tr><tr><td>480553</td><td>Aneurysmal bone cyst</td></tr><tr><td>480556</td><td>Isolated neonatal sclerosing cholangitis</td></tr><tr><td>480682</td><td>POGLUT1-related limb-girdle muscular dystrophy R21</td></tr><tr><td>480701</td><td>Facial diplegia with paresthesias</td></tr><tr><td>480851</td><td>Hereditary thrombocytopenia with early-onset myelofibrosis</td></tr><tr><td>480864</td><td>Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome</td></tr><tr><td>480880</td><td>X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability</td></tr><tr><td>480898</td><td>Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome</td></tr><tr><td>480907</td><td>X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome</td></tr><tr><td>481152</td><td>PYCR2-related microcephaly-progressive leukoencephalopathy</td></tr><tr><td>481662</td><td>Familial Chilblain lupus</td></tr><tr><td>481665</td><td>USP18 deficiency</td></tr><tr><td>481986</td><td>Familial schizencephaly</td></tr><tr><td>482077</td><td>HTRA1-related autosomal dominant cerebral small vessel disease</td></tr><tr><td>482601</td><td>Adenylosuccinate synthetase-like 1-related distal myopathy</td></tr><tr><td>482606</td><td>X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome</td></tr><tr><td>485275</td><td>Acquired schizencephaly</td></tr><tr><td>485350</td><td>CLCN4-related X-linked intellectual disability syndrome</td></tr><tr><td>485358</td><td>Propylthiouracil embryofetopathy</td></tr><tr><td>485405</td><td>16p12.1p12.3 triplication syndrome</td></tr><tr><td>485418</td><td>EMILIN-1-related connective tissue disease</td></tr><tr><td>485421</td><td>MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect</td></tr><tr><td>485426</td><td>Isolated congenital hepatic fibrosis</td></tr><tr><td>486811</td><td>Prenatal-onset spinal muscular atrophy with congenital bone fractures</td></tr><tr><td>486815</td><td>Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome</td></tr><tr><td>487796</td><td>Takenouchi-Kosaki syndrome</td></tr><tr><td>487809</td><td>Pediatric collagenous gastritis</td></tr><tr><td>487814</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation</td></tr><tr><td>487825</td><td>Pierpont syndrome</td></tr><tr><td>488168</td><td>Microcephaly-congenital cataract-psoriasiform dermatitis syndrome</td></tr><tr><td>488191</td><td>Female infertility due to oocyte meiotic arrest</td></tr><tr><td>488197</td><td>Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome</td></tr><tr><td>488232</td><td>Split-foot malformation-mesoaxial polydactyly syndrome</td></tr><tr><td>488239</td><td>Acute macular neuroretinopathy</td></tr><tr><td>488265</td><td>Osteofibrous dysplasia</td></tr><tr><td>488280</td><td>14q32 duplication syndrome</td></tr><tr><td>488333</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2W</td></tr><tr><td>488434</td><td>Camptodactyly syndrome, Guadalajara type 3</td></tr><tr><td>488437</td><td>SIX2-related frontonasal dysplasia</td></tr><tr><td>488586</td><td>Congenital amyoplasia</td></tr><tr><td>488594</td><td>Autosomal recessive spastic paraplegia type 76</td></tr><tr><td>488613</td><td>Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome</td></tr><tr><td>488618</td><td>Transketolase deficiency</td></tr><tr><td>488627</td><td>Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome</td></tr><tr><td>488632</td><td>TBCK-related intellectual disability syndrome</td></tr><tr><td>488635</td><td>Early-onset epilepsy-intellectual disability-brain anomalies syndrome</td></tr><tr><td>488642</td><td>TELO2-related intellectual disability-neurodevelopmental disorder</td></tr><tr><td>488647</td><td>DDX41-related hematologic malignancy predisposition syndrome</td></tr><tr><td>488650</td><td>Distal myopathy, Tateyama type</td></tr><tr><td>493342</td><td>Vibratory urticaria</td></tr><tr><td>494344</td><td>RERE-related neurodevelopmental syndrome</td></tr><tr><td>494418</td><td>Vulvar carcinoma</td></tr><tr><td>494421</td><td>Sacrococcygeal teratoma</td></tr><tr><td>494424</td><td>Extracranial carotid artery aneurysm</td></tr><tr><td>494428</td><td>Idiopathic pleuroparenchymal fibroelastosis</td></tr><tr><td>494433</td><td>MIRAGE syndrome</td></tr><tr><td>494439</td><td>Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome</td></tr><tr><td>494444</td><td>DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome</td></tr><tr><td>494448</td><td>Vulvar squamous cell carcinoma</td></tr><tr><td>494451</td><td>Vulvar basal cell carcinoma</td></tr><tr><td>494454</td><td>Vulvar adenocarcinoma</td></tr><tr><td>494526</td><td>Infantile-onset generalized dyskinesia with orofacial involvement</td></tr><tr><td>494541</td><td>Childhood-onset benign chorea with striatal involvement</td></tr><tr><td>494547</td><td>Squamous cell carcinoma of the hypopharynx</td></tr><tr><td>494550</td><td>Squamous cell carcinoma of the larynx</td></tr><tr><td>495274</td><td>Charcot-Marie-Tooth disease type 2T</td></tr><tr><td>495818</td><td>9q33.3q34.11 microdeletion syndrome</td></tr><tr><td>495844</td><td>C11ORF73-related autosomal recessive hypomyelinating leukodystrophy</td></tr><tr><td>495875</td><td>Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome</td></tr><tr><td>495879</td><td>Congenital agenesis of the scrotum</td></tr><tr><td>495930</td><td>Familial monosomy 7 syndrome</td></tr><tr><td>496641</td><td>Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome</td></tr><tr><td>496686</td><td>Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome</td></tr><tr><td>496689</td><td>Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome</td></tr><tr><td>496693</td><td>Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome</td></tr><tr><td>496751</td><td>EVEN-plus syndrome</td></tr><tr><td>496756</td><td>Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome</td></tr><tr><td>496790</td><td>Ocular anomalies-axonal neuropathy-developmental delay syndrome</td></tr><tr><td>497188</td><td>Diffuse intrinsic pontine glioma</td></tr><tr><td>497737</td><td>Epidermolytic nevus</td></tr><tr><td>497757</td><td>MME-related autosomal dominant Charcot Marie Tooth disease type 2</td></tr><tr><td>497764</td><td>Spinocerebellar ataxia type 43</td></tr><tr><td>497906</td><td>Childhood-onset basal ganglia degeneration syndrome</td></tr><tr><td>498228</td><td>Phyllodes tumor of the prostate</td></tr><tr><td>498251</td><td>Menstrual cycle-dependent periodic fever</td></tr><tr><td>498359</td><td>Aquagenic palmoplantar keratoderma</td></tr><tr><td>498474</td><td>Hyaline fibromatosis syndrome</td></tr><tr><td>498481</td><td>LRP5-related primary osteoporosis</td></tr><tr><td>498485</td><td>Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome</td></tr><tr><td>498488</td><td>Overgrowth syndrome with 2q37 translocation</td></tr><tr><td>498494</td><td>Mirror-image polydactyly</td></tr><tr><td>498497</td><td>Short rib-polydactyly syndrome type 5</td></tr><tr><td>498602</td><td>Sugarman brachydactyly</td></tr><tr><td>498693</td><td>MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome</td></tr><tr><td>499009</td><td>Congenital syphilis</td></tr><tr><td>499085</td><td>Chronic relapsing inflammatory optic neuritis</td></tr><tr><td>499096</td><td>Isolated optic neuritis</td></tr><tr><td>499103</td><td>Recurrent idiopathic neuroretinitis</td></tr><tr><td>499107</td><td>Idiopathic optic perineuritis</td></tr><tr><td>499182</td><td>Pilomatrix carcinoma</td></tr><tr><td>500055</td><td>Hao-Fountain syndrome due to 16p13.2 microdeletion</td></tr><tr><td>500062</td><td>Infantile-onset periodic fever-panniculitis-dermatosis syndrome</td></tr><tr><td>500095</td><td>Tall stature-intellectual disability-renal anomalies syndrome</td></tr><tr><td>500135</td><td>Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome</td></tr><tr><td>500144</td><td>Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome</td></tr><tr><td>500150</td><td>Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome</td></tr><tr><td>500159</td><td>Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom</td></tr><tr><td>500163</td><td>Witteveen-Kolk syndrome</td></tr><tr><td>500166</td><td>SIN3-related intellectual disability syndrome due to a point mutation</td></tr><tr><td>500180</td><td>Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder</td></tr><tr><td>500188</td><td>X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome</td></tr><tr><td>500464</td><td>Squamous cell carcinoma of the nasal cavity and paranasal sinuses</td></tr><tr><td>500478</td><td>Squamous cell carcinoma of the oropharynx</td></tr><tr><td>500481</td><td>Squamous cell carcinoma of salivary glands</td></tr><tr><td>500533</td><td>Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome</td></tr><tr><td>500545</td><td>Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract</td></tr><tr><td>500548</td><td>Osteosclerotic metaphyseal dysplasia</td></tr><tr><td>502305</td><td>Cochleovestibular malformation</td></tr><tr><td>502318</td><td>Cochlear nerve deficiency</td></tr><tr><td>502363</td><td>Squamous cell carcinoma of the oral cavity</td></tr><tr><td>502366</td><td>Squamous cell carcinoma of the lip</td></tr><tr><td>502423</td><td>Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome</td></tr><tr><td>502430</td><td>Weiss-Kruszka Syndrome</td></tr><tr><td>502434</td><td>STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome</td></tr><tr><td>502437</td><td>4q25 proximal deletion syndrome</td></tr><tr><td>502444</td><td>Alkaline ceramidase 3 deficiency</td></tr><tr><td>502499</td><td>Erythema multiforme major</td></tr><tr><td>504476</td><td>Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome</td></tr><tr><td>504523</td><td>Severe combined immunodeficiency due to LAT deficiency</td></tr><tr><td>504530</td><td>Combined immunodeficiency due to Moesin deficiency</td></tr><tr><td>505208</td><td>3-methylglutaconic aciduria type 8</td></tr><tr><td>505216</td><td>3-methylglutaconic aciduria type 9</td></tr><tr><td>505227</td><td>Combined immunodeficiency due to GINS1 deficiency</td></tr><tr><td>505237</td><td>Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome</td></tr><tr><td>505242</td><td>Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome</td></tr><tr><td>505248</td><td>Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders</td></tr><tr><td>505395</td><td>Ventilator-induced diaphragmatic dysfunction</td></tr><tr><td>505652</td><td>CDKL5-deficiency disorder</td></tr><tr><td>506075</td><td>Non-functioning neuroendocrine tumor of pancreas</td></tr><tr><td>506090</td><td>Serotonin-producing neuroendocrine tumor of pancreas</td></tr><tr><td>506098</td><td>Neuroendocrine carcinoma of pancreas</td></tr><tr><td>506112</td><td>Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas</td></tr><tr><td>506136</td><td>Neuroendocrine neoplasm of esophagus</td></tr><tr><td>506307</td><td>Stromme syndrome</td></tr><tr><td>506334</td><td>Familial steroid-resistant nephrotic syndrome with adrenal insufficiency</td></tr><tr><td>506353</td><td>Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction</td></tr><tr><td>506358</td><td>Gabriele-de Vries syndrome</td></tr><tr><td>506784</td><td>Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome</td></tr><tr><td>508093</td><td>MEPAN syndrome</td></tr><tr><td>508410</td><td>Familial intestinal malrotation</td></tr><tr><td>508476</td><td>Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome</td></tr><tr><td>508488</td><td>8q24.3 microdeletion syndrome</td></tr><tr><td>508498</td><td>Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome</td></tr><tr><td>508501</td><td>Oral-facial-digital syndrome with short stature and brachymesophalangy</td></tr><tr><td>508512</td><td>Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome</td></tr><tr><td>508523</td><td>Hyperphenylalaninemia due to DNAJC12 deficiency</td></tr><tr><td>508529</td><td>Intermediate epidermolysis bullosa simplex with cardiomyopathy</td></tr><tr><td>508533</td><td>Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome</td></tr><tr><td>508542</td><td>Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome</td></tr><tr><td>512017</td><td>Chronic lymphoproliferative disorder of natural killer cells</td></tr><tr><td>512103</td><td>Autosomal recessive epidermolytic ichthyosis</td></tr><tr><td>512260</td><td>Congenital cerebellar ataxia due to RNU12 mutation</td></tr><tr><td>513436</td><td>Autosomal recessive spastic paraplegia type 78</td></tr><tr><td>513456</td><td>Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome</td></tr><tr><td>514352</td><td>Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome</td></tr><tr><td>519384</td><td>Congenital cystic eye</td></tr><tr><td>519386</td><td>Isolated congenital entropion</td></tr><tr><td>519388</td><td>Autosomal recessive anterior segment dysgenesis</td></tr><tr><td>519390</td><td>Isolated blepharochalasis</td></tr><tr><td>519392</td><td>Isolated iridoschisis</td></tr><tr><td>519396</td><td>Isolated microspherophakia</td></tr><tr><td>519398</td><td>Isolated foveal hypoplasia</td></tr><tr><td>519400</td><td>Peripapillary staphyloma</td></tr><tr><td>519402</td><td>Isolated megalopapilla</td></tr><tr><td>519404</td><td>Optic disc pit</td></tr><tr><td>519406</td><td>Thygeson superficial punctate keratitis</td></tr><tr><td>519408</td><td>Mooren ulcer</td></tr><tr><td>519410</td><td>Terrien marginal degeneration</td></tr><tr><td>519930</td><td>Fungal keratitis</td></tr><tr><td>521123</td><td>Radiation-induced plexopathy</td></tr><tr><td>521127</td><td>Osteoradionecrosis of the mandible</td></tr><tr><td>521219</td><td>Mirizzi syndrome</td></tr><tr><td>521258</td><td>Xq25 microduplication syndrome</td></tr><tr><td>521305</td><td>Proximal myopathy with focal depletion of mitochondria</td></tr><tr><td>521308</td><td>Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome</td></tr><tr><td>521390</td><td>Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome</td></tr><tr><td>521406</td><td>Dystonia-parkinsonism-hypermanganesemia syndrome</td></tr><tr><td>521411</td><td>Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect</td></tr><tr><td>521414</td><td>Autosomal dominant Charcot-Marie-Tooth disease type 2DD</td></tr><tr><td>521426</td><td>PLAA-associated neurodevelopmental disorder</td></tr><tr><td>521432</td><td>Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome</td></tr><tr><td>521438</td><td>Congenital vertebral-cardiac-renal anomalies syndrome</td></tr><tr><td>521445</td><td>Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome</td></tr><tr><td>521450</td><td>LAMA5-related multisystemic syndrome</td></tr><tr><td>522037</td><td>Primary autoimmune enteropathy</td></tr><tr><td>522077</td><td>Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome</td></tr><tr><td>525731</td><td>Pediatric-onset Graves disease</td></tr><tr><td>525738</td><td>Prepubertal anorexia nervosa</td></tr><tr><td>527276</td><td>Encephalopathy due to mitochondrial and peroxisomal fission defect</td></tr><tr><td>527450</td><td>Severe myopia-generalized joint laxity-short stature syndrome</td></tr><tr><td>527468</td><td>Diaphragmatic hernia-short bowel-asplenia syndrome</td></tr><tr><td>527497</td><td>NKX6-2-related autosomal recessive hypomyelinating leukodystrophy</td></tr><tr><td>528084</td><td>Non-specific syndromic intellectual disability</td></tr><tr><td>528091</td><td>Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome</td></tr><tr><td>528105</td><td>Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome</td></tr><tr><td>528623</td><td>Hereditary angioedema with C1Inh deficiency</td></tr><tr><td>528647</td><td>Hereditary angioedema with normal C1Inh</td></tr><tr><td>528663</td><td>Acquired angioedema with C1Inh deficiency</td></tr><tr><td>529468</td><td>Monoclonal mast cell activation syndrome</td></tr><tr><td>529574</td><td>Duane retraction syndrome with congenital deafness</td></tr><tr><td>529665</td><td>Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome</td></tr><tr><td>529799</td><td>Acute bilirubin encephalopathy</td></tr><tr><td>529808</td><td>Chronic bilirubin encephalopathy</td></tr><tr><td>529831</td><td>Letrozole toxicity</td></tr><tr><td>529852</td><td>Combined hepatocellular carcinoma and cholangiocarcinoma</td></tr><tr><td>529864</td><td>Secondary erythromelalgia</td></tr><tr><td>529962</td><td>17q24.2 microdeletion syndrome</td></tr><tr><td>529965</td><td>Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome</td></tr><tr><td>529970</td><td>Male infertility due to acephalic spermatozoa</td></tr><tr><td>529977</td><td>Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome</td></tr><tr><td>529980</td><td>Inflammatory bowel disease-recurrent sinopulmonary infections syndrome</td></tr><tr><td>530033</td><td>Dermoid or epidermoid cyst of the central nervous system</td></tr><tr><td>530298</td><td>Progressive myoclonic epilepsy with neuroserpin inclusion bodies</td></tr><tr><td>530303</td><td>Progressive dementia with neuroserpin inclusion bodies</td></tr><tr><td>530792</td><td>RELA fusion-positive ependymoma</td></tr><tr><td>530838</td><td>KRT1-related diffuse nonepidermolytic keratoderma</td></tr><tr><td>530849</td><td>Familial apolipoprotein A5 deficiency</td></tr><tr><td>530983</td><td>Lamb-Shaffer syndrome</td></tr><tr><td>530995</td><td>Mixed phenotype acute leukemia</td></tr><tr><td>531151</td><td>9q21.13 microdeletion syndrome</td></tr><tr><td>535453</td><td>Familial lipase maturation factor 1 deficiency</td></tr><tr><td>535458</td><td>Familial GPIHBP1 deficiency</td></tr><tr><td>536467</td><td>B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome</td></tr><tr><td>536471</td><td>Spondylodysplastic Ehlers-Danlos syndrome</td></tr><tr><td>536516</td><td>Myopathic Ehlers-Danlos syndrome</td></tr><tr><td>536532</td><td>Classical-like Ehlers-Danlos syndrome type 2</td></tr><tr><td>536545</td><td>Kyphoscoliotic Ehlers-Danlos syndrome</td></tr><tr><td>537072</td><td>PLG-related hereditary angioedema with normal C1Inh</td></tr><tr><td>538096</td><td>Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy</td></tr><tr><td>538101</td><td>Congenital axonal neuropathy with encephalopathy</td></tr><tr><td>538574</td><td>Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome</td></tr><tr><td>538756</td><td>Familial multiple discoid fibromas</td></tr><tr><td>538863</td><td>Classic pyoderma gangrenosum</td></tr><tr><td>538866</td><td>Pustular pyoderma gangrenosum</td></tr><tr><td>538869</td><td>Bullous pyoderma gangrenosum</td></tr><tr><td>538872</td><td>Vegetative pyoderma gangrenosum</td></tr><tr><td>538931</td><td>X-linked lymphoproliferative disease due to SAP deficiency</td></tr><tr><td>538934</td><td>X-linked lymphoproliferative disease due to XIAP deficiency</td></tr><tr><td>538958</td><td>Combined immunodeficiency due to CD70 deficiency</td></tr><tr><td>538963</td><td>Combined immunodeficiency due to ITK deficiency</td></tr><tr><td>541423</td><td>Growth delay-intellectual disability-hepatopathy syndrome</td></tr><tr><td>541443</td><td>Anomalous aortic origin of the left coronary artery</td></tr><tr><td>541454</td><td>Anomalous aortic origin of the right coronary artery</td></tr><tr><td>541507</td><td>Anomalous origin of coronary artery from the pulmonary artery</td></tr><tr><td>542301</td><td>Combined immunodeficiency due to CARMIL2 deficiency</td></tr><tr><td>542306</td><td>GNB5-related intellectual disability-cardiac arrhythmia syndrome</td></tr><tr><td>542310</td><td>Leukoencephalopathy with calcifications and cysts</td></tr><tr><td>542323</td><td>CAR T cell therapy-associated cytokine release syndrome</td></tr><tr><td>542568</td><td>Quadricuspid aortic valve</td></tr><tr><td>542585</td><td>Auditory neuropathy-optic atrophy syndrome</td></tr><tr><td>542592</td><td>Necrobiosis lipoidica</td></tr><tr><td>542643</td><td>Livedoid vasculopathy</td></tr><tr><td>542657</td><td>Isolated hyperchlorhidrosis</td></tr><tr><td>543470</td><td>Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome</td></tr><tr><td>544254</td><td>SYNGAP1-related developmental and epileptic encephalopathy</td></tr><tr><td>544469</td><td>PRUNE1-related neurological syndrome</td></tr><tr><td>544472</td><td>Atypical hemolytic uremic syndrome with complement gene abnormality</td></tr><tr><td>544482</td><td>Infection-related hemolytic uremic syndrome</td></tr><tr><td>544488</td><td>Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome</td></tr><tr><td>544493</td><td>Streptococcus pneumoniae-associated hemolytic uremic syndrome</td></tr><tr><td>544503</td><td>RNF13-related severe early-onset epileptic encephalopathy</td></tr><tr><td>544578</td><td>Congenital primary megaureter, refluxing and obstructed form</td></tr><tr><td>544602</td><td>Congenital myopathy with reduced type 2 muscle fibers</td></tr><tr><td>544628</td><td>Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome</td></tr><tr><td>555402</td><td>NAD(P)HX dehydratase deficiency</td></tr><tr><td>555407</td><td>NAD(P)HX epimerase deficiency</td></tr><tr><td>555434</td><td>Fibrohistiocytic inflammatory pseudotumor of the liver</td></tr><tr><td>555437</td><td>Lymphoplasmacytic inflammatory pseudotumor of the liver</td></tr><tr><td>555874</td><td>Congenital tricuspid valve dysplasia</td></tr><tr><td>555877</td><td>FLNA-related X-linked myxomatous valvular dysplasia</td></tr><tr><td>555905</td><td>IgA pemphigus</td></tr><tr><td>556030</td><td>Early-onset familial hypoaldosteronism</td></tr><tr><td>556037</td><td>Late-onset familial hypoaldosteronism</td></tr><tr><td>556955</td><td>Pancreatic agenesis-holoprosencephaly syndrome</td></tr><tr><td>556985</td><td>Early-onset calcifying leukoencephalopathy-skeletal dysplasia</td></tr><tr><td>557003</td><td>Oculoskeletodental syndrome</td></tr><tr><td>557056</td><td>Spastic ataxia-dysarthria due to glutaminase deficiency</td></tr><tr><td>557064</td><td>Neonatal epileptic encephalopathy due to glutaminase deficiency</td></tr><tr><td>558411</td><td>Idiopathic gastroparesis</td></tr><tr><td>561854</td><td>FOXG1 syndrome</td></tr><tr><td>562509</td><td>Heme oxygenase-1 deficiency</td></tr><tr><td>562528</td><td>Congenital limbs-face contractures-hypotonia-developmental delay syndrome</td></tr><tr><td>562538</td><td>Autosomal recessive extra-oral halitosis</td></tr><tr><td>562559</td><td>Anterior maxillary protrusion-strabismus-intellectual disability syndrome</td></tr><tr><td>562569</td><td>TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome</td></tr><tr><td>562639</td><td>Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome</td></tr><tr><td>563576</td><td>Autoimmune hepatitis type 1</td></tr><tr><td>563581</td><td>Autoimmune hepatitis type 2</td></tr><tr><td>563589</td><td>Seronegative autoimmune hepatitis</td></tr><tr><td>563609</td><td>Isolated anencephaly</td></tr><tr><td>563612</td><td>Isolated exencephaly</td></tr><tr><td>563666</td><td>Serous cystadenoma of childhood</td></tr><tr><td>563671</td><td>Mucinous cystadenoma of childhood</td></tr><tr><td>563676</td><td>Seromucinous cystadenoma of childhood</td></tr><tr><td>563684</td><td>Furuncular myiasis due to Dermatobia hominis</td></tr><tr><td>563687</td><td>Furuncular myiasis due to Cordylobia anthropophaga</td></tr><tr><td>563690</td><td>Furuncular myiasis due to Cordylobia rodhaini</td></tr><tr><td>563708</td><td>Syndromic congenital sodium diarrhea</td></tr><tr><td>563951</td><td>Isolated congenital aglossia</td></tr><tr><td>563954</td><td>Isolated congenital hypoglossia</td></tr><tr><td>563991</td><td>Osteochondrosis of the tarsal bone</td></tr><tr><td>564003</td><td>Osteochondrosis of the metatarsal bone</td></tr><tr><td>564178</td><td>Primary hypomagnesemia-refractory seizures-intellectual disability syndrome</td></tr><tr><td>565612</td><td>Primary triglyceride deposit cardiomyovasculopathy</td></tr><tr><td>565624</td><td>Combined oxidative phosphorylation defect type 39</td></tr><tr><td>565641</td><td>Primary desmosis coli</td></tr><tr><td>565782</td><td>Methotrexate toxicity</td></tr><tr><td>565788</td><td>Infantile inflammatory bowel disease with neurological involvement</td></tr><tr><td>565837</td><td>Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23</td></tr><tr><td>565858</td><td>Craniosynostosis-microretrognathia-severe intellectual disability syndrome</td></tr><tr><td>565899</td><td>POMGNT2-related limb-girdle muscular dystrophy R24</td></tr><tr><td>565909</td><td>Calpain-3-related limb-girdle muscular dystrophy D4</td></tr><tr><td>566067</td><td>CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome</td></tr><tr><td>566175</td><td>Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome</td></tr><tr><td>566192</td><td>Congenital autosomal recessive small-platelet thrombocytopenia</td></tr><tr><td>566231</td><td>Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha</td></tr><tr><td>566243</td><td>Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta</td></tr><tr><td>566393</td><td>Acute mast cell leukemia</td></tr><tr><td>566396</td><td>Chronic mast cell leukemia</td></tr><tr><td>566841</td><td>Liver adenomatosis</td></tr><tr><td>566847</td><td>Aprosencephaly/atelencephaly spectrum</td></tr><tr><td>566852</td><td>Atelencephaly</td></tr><tr><td>566857</td><td>Aprosencephaly</td></tr><tr><td>566862</td><td>Left sided atrial isomerism</td></tr><tr><td>566943</td><td>Mueller-Weiss syndrome</td></tr><tr><td>567502</td><td>B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome</td></tr><tr><td>567544</td><td>Idiopathic non-lupus full-house nephropathy</td></tr><tr><td>567546</td><td>Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance</td></tr><tr><td>567548</td><td>Idiopathic steroid-resistant nephrotic syndrome</td></tr><tr><td>567550</td><td>Idiopathic multidrug-resistant nephrotic syndrome</td></tr><tr><td>567552</td><td>Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy</td></tr><tr><td>567983</td><td>Parenteral nutrition-associated cholestasis</td></tr><tr><td>568051</td><td>GJC2-related late-onset primary lymphedema</td></tr><tr><td>568056</td><td>Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome</td></tr><tr><td>568062</td><td>PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis</td></tr><tr><td>568065</td><td>EPHB4-related lymphatic-related hydrops fetalis</td></tr><tr><td>569164</td><td>Angiomatoid fibrous histiocytoma</td></tr><tr><td>569248</td><td>Microcystic stromal tumor</td></tr><tr><td>569274</td><td>Multiple mitochondrial dysfunctions syndrome type 5</td></tr><tr><td>569290</td><td>Multiple mitochondrial dysfunctions syndrome type 6</td></tr><tr><td>569816</td><td>CELSR1-related late-onset primary lymphedema</td></tr><tr><td>569821</td><td>Congenital primary lymphedema of Gordon</td></tr><tr><td>570371</td><td>Bartter syndrome type 5</td></tr><tr><td>570422</td><td>Galactose mutarotase deficiency</td></tr><tr><td>570431</td><td>Idiopathic multicentric Castleman disease</td></tr><tr><td>570438</td><td>HHV-8-associated multicentric Castleman disease</td></tr><tr><td>570470</td><td>Ricin poisoning</td></tr><tr><td>570491</td><td>QRSL1-related combined oxidative phosphorylation defect</td></tr><tr><td>570762</td><td>Infective endocarditis</td></tr><tr><td>572013</td><td>Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome</td></tr><tr><td>572333</td><td>Blepharophimosis-ptosis-epicanthus inversus syndrome plus</td></tr><tr><td>572354</td><td>Blepharophimosis-ptosis-epicanthus inversus syndrome type 1</td></tr><tr><td>572361</td><td>Blepharophimosis-ptosis-epicanthus inversus syndrome type 2</td></tr><tr><td>572385</td><td>Brachydactyly type B1</td></tr><tr><td>572428</td><td>Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia</td></tr><tr><td>572543</td><td>RFVT2-related riboflavin transporter deficiency</td></tr><tr><td>572550</td><td>RFVT3-related riboflavin transporter deficiency</td></tr><tr><td>572761</td><td>DONSON-related microcephaly-short stature-limb abnormalities spectrum</td></tr><tr><td>572768</td><td>Microcephaly-micromelia syndrome</td></tr><tr><td>572773</td><td>Microcephaly-short stature-limb abnormalities syndrome</td></tr><tr><td>572798</td><td>WARS2-related combined oxidative phosphorylation defect</td></tr><tr><td>573253</td><td>Split cord malformation type II</td></tr><tr><td>574918</td><td>Predisposition to severe viral infection due to IRF7 deficiency</td></tr><tr><td>574957</td><td>Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency</td></tr><tr><td>575553</td><td>Cathepsin A-related arteriopathy-strokes-leukoencephalopathy</td></tr><tr><td>576074</td><td>Middle East respiratory syndrome</td></tr><tr><td>576227</td><td>Complete atrioventricular septal defect without ventricular hypoplasia</td></tr><tr><td>576232</td><td>Partial atrioventricular septal defect with ventricular hypoplasia</td></tr><tr><td>576235</td><td>Partial atrioventricular septal defect without ventricular hypoplasia</td></tr><tr><td>576242</td><td>Intermediate atrioventricular septal defect</td></tr><tr><td>576278</td><td>SATB2-associated syndrome</td></tr><tr><td>576283</td><td>SATB2-associated syndrome due to a pathogenic variant</td></tr><tr><td>576349</td><td>NLRC4-related familial cold autoinflammatory syndrome</td></tr><tr><td>576370</td><td>Variant Creutzfeldt-Jakob disease</td></tr><tr><td>576379</td><td>Iatrogenic Creutzfeldt-Jakob disease</td></tr><tr><td>580572</td><td>Intraductal tubulopapillary neoplasm of pancreas</td></tr><tr><td>580933</td><td>Lethal brain and heart developmental defects</td></tr><tr><td>580940</td><td>QRICH1-related intellectual disability-chondrodysplasia syndrome</td></tr><tr><td>580951</td><td>Punctate inner choroidopathy</td></tr><tr><td>581271</td><td>Cramp-fasciculation syndrome</td></tr><tr><td>583097</td><td>Congenital infiltrating lipomatosis of the face</td></tr><tr><td>583595</td><td>Serine biosynthesis pathway deficiency, infantile/juvenile form</td></tr><tr><td>583602</td><td>Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency</td></tr><tr><td>583607</td><td>Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency</td></tr><tr><td>583612</td><td>Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency</td></tr><tr><td>583856</td><td>Isolated splenic vein thrombosis</td></tr><tr><td>583861</td><td>Isolated mesenteric vein thrombosis</td></tr><tr><td>585867</td><td>Acute myeloid leukemia with t(9;22)(q34.1;q11.2)</td></tr><tr><td>585877</td><td>B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality</td></tr><tr><td>585909</td><td>B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)</td></tr><tr><td>585918</td><td>B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)</td></tr><tr><td>585929</td><td>B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)</td></tr><tr><td>585936</td><td>B-lymphoblastic leukemia/lymphoma with hyperdiploidy</td></tr><tr><td>585942</td><td>B-lymphoblastic leukemia/lymphoma with hypodiploidy</td></tr><tr><td>585948</td><td>B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)</td></tr><tr><td>585956</td><td>B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)</td></tr><tr><td>586130</td><td>Sporadic fatal insomnia</td></tr><tr><td>589435</td><td>Spondylometaphyseal dysplasia-corneal dystrophy syndrome</td></tr><tr><td>589442</td><td>Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome</td></tr><tr><td>589515</td><td>PUM1-associated developmental disability-ataxia-seizure syndrome</td></tr><tr><td>589522</td><td>Spinocerebellar ataxia type 46</td></tr><tr><td>589527</td><td>Spinocerebellar ataxia type 45</td></tr><tr><td>589534</td><td>Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)</td></tr><tr><td>589542</td><td>Myeloid/lymphoid neoplasm associated with JAK2 rearrangement</td></tr><tr><td>589547</td><td>GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder</td></tr><tr><td>589595</td><td>Mixed phenotype acute leukemia with t(v;11q23.3)</td></tr><tr><td>589608</td><td>Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies</td></tr><tr><td>589618</td><td>Dystonia 28</td></tr><tr><td>589821</td><td>Congenital-onset Steinert myotonic dystrophy</td></tr><tr><td>589824</td><td>Childhood-onset Steinert myotonic dystrophy</td></tr><tr><td>589827</td><td>Juvenile-onset Steinert myotonic dystrophy</td></tr><tr><td>589830</td><td>Adult-onset Steinert myotonic dystrophy</td></tr><tr><td>589833</td><td>Late-onset Steinert myotonic dystrophy</td></tr><tr><td>589856</td><td>Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome</td></tr><tr><td>589905</td><td>PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome</td></tr><tr><td>590539</td><td>Isolated melanotic schwannoma</td></tr><tr><td>592564</td><td>GNAO1-related developmental delay-seizures-movement disorder spectrum</td></tr><tr><td>592570</td><td>TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome</td></tr><tr><td>592574</td><td>Menke-Hennekam syndrome</td></tr><tr><td>592850</td><td>Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies</td></tr><tr><td>592856</td><td>Neuromyelitis optica spectrum disorder with anti-MOG antibodies</td></tr><tr><td>592869</td><td>Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies</td></tr><tr><td>592873</td><td>Acute transverse myelitis with anti-MOG antibodies</td></tr><tr><td>592894</td><td>Acute disseminated encephalomyelitis with anti-MOG antibodies</td></tr><tr><td>592900</td><td>Acute disseminated encephalomyelitis without anti-MOG antibodies</td></tr><tr><td>595098</td><td>Timothy syndrome type 1</td></tr><tr><td>595105</td><td>Timothy syndrome type 2</td></tr><tr><td>595109</td><td>Atypical Timothy syndrome</td></tr><tr><td>595133</td><td>Perivascular epithelioid cell neoplasm</td></tr><tr><td>595356</td><td>Localized dystrophic epidermolysis bullosa</td></tr><tr><td>596008</td><td>Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis</td></tr><tr><td>596448</td><td>IgG4-related systemic disease</td></tr><tr><td>596753</td><td>VEXAS syndrome</td></tr><tr><td>596759</td><td>Combined immunodeficiency due to RELA haploinsufficiency</td></tr><tr><td>596937</td><td>Portosinusoidal vascular disease</td></tr><tr><td>596941</td><td>Incomplete septal cirrhosis</td></tr><tr><td>597201</td><td>TRIM22-related inflammatory bowel disease</td></tr><tr><td>597623</td><td>IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome</td></tr><tr><td>597733</td><td>Oculocutaneous albinism type 8</td></tr><tr><td>597738</td><td>Luscan-Lumish syndrome</td></tr><tr><td>597743</td><td>SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome</td></tr><tr><td>597746</td><td>Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome</td></tr><tr><td>597874</td><td>MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome</td></tr><tr><td>597887</td><td>ALPI-related inflammatory bowel disease</td></tr><tr><td>597939</td><td>Euthyroid dysprealbuminemic hyperthyroxinemia</td></tr><tr><td>598164</td><td>FOXG1 syndrome due to intragenic alteration</td></tr><tr><td>598216</td><td>Upper tract urothelial carcinoma</td></tr><tr><td>598363</td><td>Multisystem inflammatory syndrome in children and adults</td></tr><tr><td>598603</td><td>Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome</td></tr><tr><td>599082</td><td>CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome</td></tr><tr><td>599373</td><td>STXBP1-related encephalopathy</td></tr><tr><td>599376</td><td>Hypomyelination of early myelinating structures</td></tr><tr><td>599418</td><td>Hereditary angioedema with normal C1Inh not related to F12 or PLG variant</td></tr><tr><td>599480</td><td>Acquired hemophilia A</td></tr><tr><td>599485</td><td>Acquired hemophilia B</td></tr><tr><td>599490</td><td>Acquired factor V deficiency</td></tr><tr><td>599495</td><td>Acquired factor VII deficiency</td></tr><tr><td>599501</td><td>Acquired factor X deficiency</td></tr><tr><td>599507</td><td>Acquired factor XI deficiency</td></tr><tr><td>599513</td><td>Acquired factor XIII deficiency</td></tr><tr><td>599519</td><td>Factor V short isoforms-related bleeding disorder</td></tr><tr><td>599579</td><td>Factor V Amsterdam bleeding disorder</td></tr><tr><td>600194</td><td>Factor V Atlanta bleeding disorder</td></tr><tr><td>600663</td><td>NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance</td></tr><tr><td>600668</td><td>CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome</td></tr><tr><td>600691</td><td>Combined deficiency of factor VII and factor X</td></tr><tr><td>600731</td><td>Clark-Baraitser syndrome</td></tr><tr><td>600952</td><td>Non-syndromic anorectal malformation with perineal fistula</td></tr><tr><td>600961</td><td>Non-syndromic anorectal malformation with rectourethral fistula</td></tr><tr><td>600966</td><td>Non-syndromic anorectal malformation with rectourethral fistula, bulbar type</td></tr><tr><td>600975</td><td>Non-syndromic anorectal malformation with rectourethral fistula, prostatic type</td></tr><tr><td>600984</td><td>Non-syndromic anorectal malformation with rectovesical fistula</td></tr><tr><td>600993</td><td>Non-syndromic anorectal malformation with vestibular fistula</td></tr><tr><td>600998</td><td>Non-syndromic cloacal malformation</td></tr><tr><td>601002</td><td>Non-syndromic anorectal malformation without fistula</td></tr><tr><td>601008</td><td>Non-syndromic anorectal malformation with anal stenosis</td></tr><tr><td>601013</td><td>Non-syndromic anorectal malformation with pouch colon</td></tr><tr><td>601018</td><td>Non-syndromic anorectal malformation with rectal atresia</td></tr><tr><td>601023</td><td>Non-syndromic anorectal malformation with rectal stenosis</td></tr><tr><td>601028</td><td>Non-syndromic anorectal malformation with rectovaginal fistula</td></tr><tr><td>601033</td><td>Non-syndromic anorectal malformation with H-type fistula</td></tr><tr><td>603448</td><td>Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome</td></tr><tr><td>603494</td><td>Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome</td></tr><tr><td>603515</td><td>Isolated female hypospadias</td></tr><tr><td>603684</td><td>KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome</td></tr><tr><td>603689</td><td>KLHL7-related Bohring-Opitz-like syndrome</td></tr><tr><td>603694</td><td>KLHL7-related Crisponi/cold-induced sweating-like syndrome</td></tr><tr><td>604680</td><td>Symptomatic form of X-linked centronuclear myopathy in female carriers</td></tr><tr><td>610569</td><td>KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome</td></tr><tr><td>610573</td><td>CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome</td></tr><tr><td>611201</td><td>Oculogastrointestinal-neurodevelopmental syndrome</td></tr><tr><td>611207</td><td>Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome</td></tr><tr><td>611216</td><td>Aplastic anemia-intellectual disability-dwarfism syndrome</td></tr><tr><td>611223</td><td>EN1-related dorsoventral syndrome</td></tr><tr><td>611237</td><td>Parkinsonism with polyneuropathy</td></tr><tr><td>611247</td><td>Pontocerebellar hypoplasia type 11</td></tr><tr><td>611256</td><td>Pontocerebellar hypoplasia type 12</td></tr><tr><td>613267</td><td>Pontocerebellar hypoplasia type 13</td></tr><tr><td>613274</td><td>Pontocerebellar hypoplasia type 14</td></tr><tr><td>615938</td><td>Spastic paraparesis-cataracts-speech delay syndrome</td></tr><tr><td>615943</td><td>Granuloma faciale</td></tr><tr><td>615954</td><td>Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome</td></tr><tr><td>615964</td><td>Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate</td></tr><tr><td>615970</td><td>Chronic intervillositis of unknown etiology</td></tr><tr><td>615983</td><td>Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation</td></tr><tr><td>615986</td><td>Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster</td></tr><tr><td>616874</td><td>Rare disorder without a determined diagnosis after full investigation</td></tr><tr><td>617294</td><td>Twin anemia-polycythemia sequence</td></tr><tr><td>617297</td><td>Twin-reversed arterial perfusion sequence</td></tr><tr><td>617301</td><td>Selective intrauterine growth restriction</td></tr><tr><td>617304</td><td>Amniotic fluid embolism</td></tr><tr><td>617408</td><td>Classic eosinophilic pustular folliculitis</td></tr><tr><td>617440</td><td>Painful legs and moving toes syndrome</td></tr><tr><td>617449</td><td>Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome</td></tr><tr><td>617910</td><td>Conjunctival malignant melanoma</td></tr><tr><td>617916</td><td>Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia</td></tr><tr><td>617919</td><td>F12-associated cold autoinflammatory syndrome</td></tr><tr><td>617930</td><td>Hemophilia B Leyden</td></tr><tr><td>618891</td><td>Chronic neurovisceral acid sphingomyelinase deficiency</td></tr><tr><td>619233</td><td>Hereditary persistence of fetal hemoglobin-intellectual disability syndrome</td></tr><tr><td>619363</td><td>NOCARH syndrome</td></tr><tr><td>619367</td><td>SAMD9L-associated autoinflammatory syndrome</td></tr><tr><td>619941</td><td>Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency</td></tr><tr><td>619948</td><td>Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency</td></tr><tr><td>619953</td><td>Familial hyperinflammatory lymphoproliferative immunodeficiency</td></tr><tr><td>619972</td><td>CADINS disease</td></tr><tr><td>619979</td><td>Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome</td></tr><tr><td>620102</td><td>Non-syndromic unicoronal craniosynostosis</td></tr><tr><td>620113</td><td>Non-syndromic unilambdoid craniosynostosis</td></tr><tr><td>620139</td><td>Non-syndromic unifrontosphenoidal craniosynostosis</td></tr><tr><td>620146</td><td>Non-syndromic unisquamosal craniosynostosis</td></tr><tr><td>620158</td><td>Non-syndromic non-specific multisutural craniosynostosis</td></tr><tr><td>620178</td><td>Non-syndromic bilambdoid craniosynostosis</td></tr><tr><td>620186</td><td>Non-syndromic unicoronal and sagittal craniosynostosis</td></tr><tr><td>620192</td><td>Non-syndromic metopic and sagittal craniosynostosis</td></tr><tr><td>620198</td><td>Non-syndromic bicoronal and metopic craniosynostosis</td></tr><tr><td>620205</td><td>Non-syndromic bicoronal and sagittal craniosynostosis</td></tr><tr><td>620212</td><td>Non-syndromic pansynostosis</td></tr><tr><td>620217</td><td>Bartter syndrome type 1</td></tr><tr><td>620220</td><td>Bartter syndrome type 2</td></tr><tr><td>620363</td><td>Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome</td></tr><tr><td>620368</td><td>EGF-related primary hypomagnesemia with intellectual disability</td></tr><tr><td>620371</td><td>Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation</td></tr><tr><td>621758</td><td>Fibrosis-neurodegeneration-cerebral angiomatosis syndrome</td></tr><tr><td>622099</td><td>Superior mesenteric artery syndrome</td></tr><tr><td>622925</td><td>X-linked severe syndromic thoracic aortic aneurysm and dissection</td></tr><tr><td>622934</td><td>SBDS-related severe neonatal spondylometaphyseal dysplasia</td></tr><tr><td>623615</td><td>Autoimmune limbic encephalitis</td></tr><tr><td>623626</td><td>Paraneoplastic cerebellar degeneration</td></tr><tr><td>623695</td><td>MIR140-related spondyloepiphyseal dysplasia</td></tr><tr><td>623789</td><td>Body integrity dysphoria</td></tr><tr><td>623801</td><td>Acute flaccid myelitis</td></tr><tr><td>624166</td><td>Non-specific autoimmune supratentorial encephalitis with characteristic antibodies</td></tr><tr><td>624178</td><td>Non-specific autoimmune supratentorial encephalitis without characteristic antibodies</td></tr><tr><td>624190</td><td>Paraneoplastic isolated brainstem encephalitis</td></tr><tr><td>624199</td><td>Non-specific autoimmune brainstem encephalitis with characteristic antibodies</td></tr><tr><td>624216</td><td>Non-specific autoimmune brainstem encephalitis without characteristic antibodies</td></tr><tr><td>624244</td><td>Postinfectious cerebellitis</td></tr><tr><td>624259</td><td>Non-specific autoimmune cerebellar ataxia with characteristic antibodies</td></tr><tr><td>624268</td><td>Non-specific autoimmune cerebellar ataxia without characteristic antibodies</td></tr><tr><td>631068</td><td>Autosomal dominant spastic paraplegia type 80</td></tr><tr><td>631073</td><td>Autosomal recessive spastic paraplegia type 82</td></tr><tr><td>631076</td><td>Autosomal recessive spastic paraplegia type 83</td></tr><tr><td>631079</td><td>Autosomal recessive spastic paraplegia type 84</td></tr><tr><td>631082</td><td>Autosomal recessive spastic paraplegia type 85</td></tr><tr><td>631085</td><td>Autosomal recessive spastic paraplegia type 86</td></tr><tr><td>631088</td><td>Autosomal recessive spastic paraplegia type 87</td></tr><tr><td>631095</td><td>Spinocerebellar ataxia type 44</td></tr><tr><td>631103</td><td>Spinocerebellar ataxia type 48</td></tr><tr><td>631106</td><td>Spinocerebellar ataxia type 49</td></tr><tr><td>631248</td><td>Mitchell Syndrome</td></tr><tr><td>631251</td><td>Cancer of unknown primary site</td></tr><tr><td>632603</td><td>Mesomelic dysplasia-digital anomalies-intellectual disability syndrome</td></tr><tr><td>633004</td><td>KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome</td></tr><tr><td>633014</td><td>SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome</td></tr><tr><td>633021</td><td>SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome</td></tr><tr><td>633024</td><td>SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome</td></tr><tr><td>633028</td><td>CPE-related Prader-Willi-like syndrome</td></tr><tr><td>633035</td><td>Intellectual disability-early-onset cataract-microcephaly syndrome</td></tr><tr><td>633076</td><td>Split cord malformation, composite type</td></tr><tr><td>633099</td><td>PAICS deficiency</td></tr><tr><td>633124</td><td>Invasive scopulariopsis infection</td></tr><tr><td>633211</td><td>Preaxial digit brachydactyly-webbed fingers</td></tr><tr><td>633228</td><td>Isolated proximal femoral focal deficiency</td></tr><tr><td>634461</td><td>Mosaic neurofibromatosis type 1</td></tr><tr><td>634475</td><td>Mosaic NF2-related schwannomatosis</td></tr><tr><td>634492</td><td>Mosaic schwannomatosis</td></tr><tr><td>634511</td><td>Mosaic Legius syndrome</td></tr><tr><td>636941</td><td>Vascular Ehlers-Danlos-polymicrogyria syndrome</td></tr><tr><td>636945</td><td>Invasive candidiasis</td></tr><tr><td>636950</td><td>Glaucomatocyclitic crisis disease</td></tr><tr><td>636955</td><td>Endemic pemphigus foliaceus</td></tr><tr><td>636965</td><td>Autosomal dominant myosin storage myopathy</td></tr><tr><td>636970</td><td>Autosomal recessive myosin storage myopathy</td></tr><tr><td>637013</td><td>SMARCA2-related blepharophimosis-intellectual disability syndrome</td></tr><tr><td>637051</td><td>Borna virus encephalitis</td></tr><tr><td>637061</td><td>Isolated optic nerve hypoplasia</td></tr><tr><td>637064</td><td>Isolated optic nerve aplasia</td></tr><tr><td>641350</td><td>Immunotherapy induced hypophysitis</td></tr><tr><td>641353</td><td>Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome</td></tr><tr><td>641361</td><td>Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome</td></tr><tr><td>641368</td><td>Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency</td></tr><tr><td>641372</td><td>B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)</td></tr><tr><td>641375</td><td>B-lymphoblastic leukemia/lymphoma with t(17;19)</td></tr><tr><td>641380</td><td>PAPASH syndrome</td></tr><tr><td>641385</td><td>PASS syndrome</td></tr><tr><td>641390</td><td>PsAPASH syndrome</td></tr><tr><td>641396</td><td>Central nervous system tuberculosis</td></tr><tr><td>641496</td><td>Childhood-onset schizophrenia</td></tr><tr><td>641829</td><td>Neonatal compartment syndrome</td></tr><tr><td>642071</td><td>Primary pulmonary vein stenosis</td></tr><tr><td>642085</td><td>EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity</td></tr><tr><td>642099</td><td>Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type</td></tr><tr><td>642671</td><td>Familial hyperaldosteronism type IV</td></tr><tr><td>642675</td><td>CHD8 overgrowth syndrome</td></tr><tr><td>642691</td><td>Fragile X-associated primary ovarian insufficiency</td></tr><tr><td>642747</td><td>PUM1-related cerebellar ataxia</td></tr><tr><td>642763</td><td>Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation</td></tr><tr><td>642788</td><td>Cushing syndrome due to cortisol-producing adrenocortical adenoma</td></tr><tr><td>642945</td><td>Perrault syndrome type 1</td></tr><tr><td>642954</td><td>Autosomal recessive ataxia due to PEX16 deficiency</td></tr><tr><td>642965</td><td>Autosomal recessive ataxia due to PEX2 deficiency</td></tr><tr><td>642976</td><td>Perrault syndrome type 2</td></tr><tr><td>643503</td><td>Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome</td></tr><tr><td>643538</td><td>Hao-Fountain syndrome due to USP7 mutation</td></tr><tr><td>643549</td><td>Hao-Fountain syndrome</td></tr><tr><td>645188</td><td>Spinal dermal sinus</td></tr><tr><td>645285</td><td>Chaotic conus spinal cord lipoma</td></tr><tr><td>645288</td><td>Terminal extramedullary conus spinal cord lipoma</td></tr><tr><td>645291</td><td>Transitional extramedullary conus spinal cord lipoma</td></tr><tr><td>645294</td><td>Posterior extramedullary conus spinal cord lipoma</td></tr><tr><td>645297</td><td>Extramedullary conus spinal cord lipoma</td></tr><tr><td>645300</td><td>Lipomatous non-saccular limited dorsal myeloschisis</td></tr><tr><td>645310</td><td>Fibroneural non-saccular limited dorsal myeloschisis</td></tr><tr><td>645322</td><td>Isolated transitional filum lipoma</td></tr><tr><td>645325</td><td>Isolated filum lipoma</td></tr><tr><td>645334</td><td>Retained medullary cord</td></tr><tr><td>645337</td><td>Terminal myelocystocele</td></tr><tr><td>645340</td><td>Non-terminal myelocystocele</td></tr><tr><td>645343</td><td>Non-saccular limited dorsal myeloschisis</td></tr><tr><td>645350</td><td>Segmental arterial mediolysis</td></tr><tr><td>645354</td><td>Saccular limited dorsal myeloschisis</td></tr><tr><td>645359</td><td>Intramedullary non-dysraphic spinal cord lipoma</td></tr><tr><td>645362</td><td>Dorsal spinal cord lipoma</td></tr><tr><td>645378</td><td>Myelic limited dorsal malformation</td></tr><tr><td>645383</td><td>True myelomeningocele</td></tr><tr><td>645388</td><td>Hemi-myelomeningocele</td></tr><tr><td>645393</td><td>Hemi-myeloschisis</td></tr><tr><td>645398</td><td>Myeloschisis</td></tr><tr><td>645401</td><td>True myeloschisis</td></tr><tr><td>645613</td><td>Classical dermatomyositis</td></tr><tr><td>645617</td><td>Amyopathic dermatomyositis</td></tr><tr><td>645626</td><td>Adermatopathic dermatomyositis</td></tr><tr><td>645749</td><td>Congenital esophageal stenosis</td></tr><tr><td>645793</td><td>Spontaneous intestinal perforation</td></tr><tr><td>645807</td><td>Primary tuberculous lymphadenitis</td></tr><tr><td>645814</td><td>Primary pulmonary tuberculosis</td></tr><tr><td>645822</td><td>Primary bone and joint tuberculosis</td></tr><tr><td>645849</td><td>Primary cutaneous tuberculosis</td></tr><tr><td>645854</td><td>Multifocal tuberculosis</td></tr><tr><td>645859</td><td>Primary tuberculosis of the digestive system</td></tr><tr><td>645874</td><td>Primary genito-urinary tuberculosis</td></tr><tr><td>646113</td><td>Intermediate collagen VI-related muscular dystrophy</td></tr><tr><td>646136</td><td>Dysplastic cortical hyperostosis, Al-Gazali type</td></tr><tr><td>646139</td><td>Dysplastic cortical hyperostosis</td></tr><tr><td>646278</td><td>CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome</td></tr><tr><td>647667</td><td>Mandibuloacral dysplasia associated to MTX2</td></tr><tr><td>647676</td><td>Multiple epiphyseal dysplasia type 7</td></tr><tr><td>647681</td><td>Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome</td></tr><tr><td>647772</td><td>Isolated primary pigmented nodular adrenocortical disease</td></tr><tr><td>647782</td><td>Isolated micronodular adrenocortical disease</td></tr><tr><td>647788</td><td>Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome</td></tr><tr><td>647794</td><td>Isolated persistent urogenital sinus</td></tr><tr><td>647799</td><td>MYT1L-related developmental delay-intellectual disability-obesity syndrome</td></tr><tr><td>647804</td><td>Combined immunodeficiency due to FCHO1 deficiency</td></tr><tr><td>647811</td><td>Cardiac-urogenital syndrome</td></tr><tr><td>647815</td><td>Keratitis fugax hereditaria</td></tr><tr><td>647823</td><td>Idiopathic pregnancy-associated osteoporosis</td></tr><tr><td>647834</td><td>SLC40A1-related hemochromatosis</td></tr><tr><td>647916</td><td>Conjoined twins</td></tr><tr><td>648562</td><td>Ferroportin disease</td></tr><tr><td>648581</td><td>Digenic hemochromatosis</td></tr><tr><td>648665</td><td>Infectious scleritis</td></tr><tr><td>648675</td><td>Idiopathic scleritis</td></tr><tr><td>648681</td><td>Immune-mediated scleritis</td></tr><tr><td>648684</td><td>Central retinal artery occlusion</td></tr><tr><td>648919</td><td>Idiopathic catatonia</td></tr><tr><td>648992</td><td>Non-syndromic bridging bronchus</td></tr><tr><td>649010</td><td>Non-syndromic congenital bronchial atresia</td></tr><tr><td>649029</td><td>Isolated left bronchial isomerism</td></tr><tr><td>650077</td><td>Genetic central precocious puberty in female</td></tr><tr><td>650082</td><td>Secondary central precocious puberty in female</td></tr><tr><td>650087</td><td>Primary central precocious puberty in male</td></tr><tr><td>650092</td><td>Secondary central precocious puberty in male</td></tr><tr><td>650097</td><td>Genetic central precocious puberty in male</td></tr><tr><td>650102</td><td>Non-genetic central precocious puberty in male</td></tr><tr><td>652487</td><td>Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome</td></tr><tr><td>652514</td><td>Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation</td></tr><tr><td>652519</td><td>Cleft palate-congenital heart defect-intellectual disability syndrome</td></tr><tr><td>652522</td><td>Periodic fever-immunodeficiency-thrombocytopenia syndrome</td></tr><tr><td>652528</td><td>Non-syndromic supernumerary kidneys</td></tr><tr><td>652532</td><td>Adult-onset progressive leukoencephalopathy-early-onset deafness</td></tr><tr><td>652650</td><td>Nodal T-follicular helper cell lymphoma, follicular type</td></tr><tr><td>652658</td><td>Monomorphic epitheliotropic intestinal T-cell lymphoma</td></tr><tr><td>652668</td><td>Primary superior vena cava aneurysm</td></tr><tr><td>652678</td><td>Primary inferior vena cava aneurysm</td></tr><tr><td>652681</td><td>Idiopathic subglottic stenosis</td></tr><tr><td>653698</td><td>Lymphocytic mastitis</td></tr><tr><td>653709</td><td>Cone rod dystrophy-short stature syndrome</td></tr><tr><td>653712</td><td>CHD4-related neurodevelopmental disorder</td></tr><tr><td>653722</td><td>Digenic Alport syndrome</td></tr><tr><td>653725</td><td>Autosomal recessive limb-girdle muscular dystrophy, type 28</td></tr><tr><td>653728</td><td>Congenital insensitivity to pain syndrome, Marsili type</td></tr><tr><td>653751</td><td>X-linked combined immunodeficiency due to SASH3 deficiency</td></tr><tr><td>653767</td><td>Jansen-de Vries syndrome</td></tr><tr><td>653880</td><td>Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency</td></tr><tr><td>656071</td><td>Atrophic papulosis</td></tr><tr><td>656085</td><td>Benign atrophic papulosis</td></tr><tr><td>656126</td><td>Segmental spinal dysgenesis</td></tr><tr><td>656130</td><td>PBX1-related congenital anomalies of kidney and urinary tract syndrome</td></tr><tr><td>656135</td><td>Intellectual disability-cupped ears syndrome</td></tr><tr><td>656279</td><td>1p36.33 duplication syndrome</td></tr><tr><td>656283</td><td>Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency</td></tr><tr><td>656300</td><td>Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency</td></tr><tr><td>656313</td><td>Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency</td></tr><tr><td>656326</td><td>Autosomal recessive combined immunodeficiency due to IL6R deficiency</td></tr><tr><td>656417</td><td>Embryonal tumor with multilayered rosettes</td></tr><tr><td>656912</td><td>Autosomal dominant combined immunodeficiency due to ERBIN deficiency</td></tr><tr><td>658540</td><td>16q22 deletion syndrome</td></tr><tr><td>658549</td><td>Idiopathic small fibers neuropathy</td></tr><tr><td>658574</td><td>Isolated pulmonary artery sling</td></tr><tr><td>658584</td><td>Rowell syndrome</td></tr><tr><td>658590</td><td>Eyelid sebaceous carcinoma</td></tr><tr><td>658595</td><td>DNMT3A-related microcephalic dwarfism</td></tr><tr><td>658602</td><td>Transplant-related bronchiolitis obliterans</td></tr><tr><td>658612</td><td>Non-transplant-related bronchiolitis obliterans</td></tr><tr><td>658778</td><td>COQ7-related distal hereditary motor neuropathy</td></tr><tr><td>658805</td><td>Greig cephalopolysyndactyly-contiguous gene syndrome</td></tr><tr><td>658810</td><td>Atrophoderma of Pasini and Pierini</td></tr><tr><td>658813</td><td>Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency</td></tr><tr><td>658843</td><td>Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome</td></tr><tr><td>658909</td><td>Fasciolopsiasis</td></tr><tr><td>658913</td><td>Paragonimiasis</td></tr><tr><td>658917</td><td>Clonorchiasis</td></tr><tr><td>658946</td><td>Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency</td></tr><tr><td>658951</td><td>Early-onset immune dysregulation due to DOCK11 complete deficiency</td></tr><tr><td>659396</td><td>Cohen-Gibson syndrome</td></tr><tr><td>659463</td><td>Imagawa-Matsumoto syndrome</td></tr><tr><td>659609</td><td>Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome</td></tr><tr><td>659626</td><td>Single isolated optic neuritis</td></tr><tr><td>659634</td><td>Relapsing isolated optic neuritis</td></tr><tr><td>659642</td><td>Rauch-Steindl syndrome</td></tr><tr><td>659672</td><td>Harderoporphyria</td></tr><tr><td>659702</td><td>Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome</td></tr><tr><td>659707</td><td>Yersinia pseudotuberculosis infection</td></tr><tr><td>659744</td><td>Ocular surface squamous neoplasia</td></tr><tr><td>659756</td><td>Oroya fever</td></tr><tr><td>659759</td><td>Verruga peruana</td></tr><tr><td>659873</td><td>Wormian bones-micrognathia-abnormal dentition-progeroid syndrome</td></tr><tr><td>659904</td><td>Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome</td></tr><tr><td>659908</td><td>Glanders</td></tr><tr><td>659975</td><td>Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome</td></tr><tr><td>660012</td><td>Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation</td></tr><tr><td>660017</td><td>Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome</td></tr><tr><td>660021</td><td>Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome</td></tr><tr><td>660053</td><td>Psittacosis</td></tr><tr><td>661412</td><td>Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency</td></tr><tr><td>661526</td><td>MBD4-related tumor predisposition syndrome</td></tr><tr><td>662169</td><td>Phelan-McDermid syndrome due to 22q13.3 deletion</td></tr><tr><td>662172</td><td>Phelan-McDermid syndrome due to SHANK3 mutation</td></tr><tr><td>662175</td><td>Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome</td></tr><tr><td>662179</td><td>Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome</td></tr><tr><td>662184</td><td>Congenital muscular dystrophy-cataract-intellectual disability syndrome</td></tr><tr><td>662189</td><td>Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome</td></tr><tr><td>662198</td><td>Neurodevelopmental delay-intellectual disability-skeletal defects syndrome</td></tr><tr><td>662207</td><td>Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome</td></tr><tr><td>662216</td><td>Mucopolysaccharidosis type 10</td></tr><tr><td>662229</td><td>Episodic memory defect leukoencephalopathy</td></tr><tr><td>662234</td><td>Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome</td></tr><tr><td>662240</td><td>Frey syndrome</td></tr><tr><td>662255</td><td>Grisel syndrome</td></tr><tr><td>662367</td><td>NESCAV syndrome</td></tr><tr><td>662376</td><td>Gastric duplication</td></tr><tr><td>662388</td><td>Gallbladder duplication</td></tr><tr><td>662392</td><td>Colonic duplication</td></tr><tr><td>662405</td><td>Pyloric duplication</td></tr><tr><td>662456</td><td>Small intestine duplication</td></tr><tr><td>662473</td><td>Duodenal duplication</td></tr><tr><td>662480</td><td>Jujeno-ileal duplication</td></tr><tr><td>662721</td><td>Placenta accreta spectrum disorder</td></tr><tr><td>662762</td><td>Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome</td></tr><tr><td>662786</td><td>Vasa previa</td></tr><tr><td>662829</td><td>Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome</td></tr><tr><td>662934</td><td>Acute megakaryoblastic leukemia in adult</td></tr><tr><td>664372</td><td>Soft and hard cleft palate</td></tr><tr><td>664377</td><td>MGP-related spondyloepiphyseal dysplasia</td></tr><tr><td>664401</td><td>Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation</td></tr><tr><td>664404</td><td>6q25.1 microdeletion syndrome</td></tr><tr><td>664410</td><td>Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome</td></tr><tr><td>664416</td><td>Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation</td></tr><tr><td>664430</td><td>Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome</td></tr><tr><td>664438</td><td>Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome</td></tr><tr><td>664500</td><td>Hermansky-Pudlak syndrome due to AP3B1 deficiency</td></tr><tr><td>664511</td><td>Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency</td></tr><tr><td>664699</td><td>EBV-induced lymphoproliferative disease due to RASGRP1 deficiency</td></tr><tr><td>664711</td><td>EBV-induced lymphoproliferative disease due to PRKCD deficiency</td></tr><tr><td>664726</td><td>EBV-induced lymphoproliferative disease due to CD137 deficiency</td></tr><tr><td>664729</td><td>EBV-induced lymphoproliferative disease due to TET2 deficiency</td></tr><tr><td>664787</td><td>Nicolau syndrome</td></tr><tr><td>664901</td><td>Trigeminal trophic syndrome</td></tr><tr><td>664912</td><td>Neonatal renal venous thrombosis</td></tr><tr><td>664923</td><td>Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome</td></tr><tr><td>665044</td><td>Common arterial trunk with aortic dominance</td></tr><tr><td>665058</td><td>Common arterial trunk with pulmonary dominance and interrupted aortic arch</td></tr><tr><td>667589</td><td>Isolated congenital femoral bifurcation</td></tr><tr><td>667662</td><td>Breast implant-associated anaplastic large cell lymphoma</td></tr><tr><td>667678</td><td>Intraoral basal cell carcinoma</td></tr><tr><td>672979</td><td>Craniosynostosis-facial dysmorphism-brachydactyly syndrome</td></tr><tr><td>672985</td><td>Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome</td></tr><tr><td>673525</td><td>Intravascular papillary endothelial hyperplasia</td></tr><tr><td>673538</td><td>Littoral cell hemangioma of the spleen</td></tr><tr><td>673543</td><td>Papillary hemangioma</td></tr><tr><td>673556</td><td>Pseudomyogenic hemangioendothelioma</td></tr><tr><td>673568</td><td>Eccrine angiomatous hamartoma</td></tr><tr><td>673574</td><td>Reactive angioendotheliomatosis</td></tr><tr><td>673580</td><td>Classic pilocytic astrocytoma</td></tr><tr><td>673585</td><td>Pilocytic astrocytoma with histological features of anaplasia</td></tr><tr><td>674653</td><td>Actinomyopathy-associated syndromic thrombocytopenia</td></tr><tr><td>674762</td><td>Early-onset autoinflammatory syndrome due to A20 haploinsufficiency</td></tr><tr><td>674924</td><td>Isolated retinal racemose hemangioma</td></tr><tr><td>674930</td><td>Perifoveal exudative vascular anomalous complex</td></tr><tr><td>674935</td><td>Torpedo Maculopathy</td></tr><tr><td>674943</td><td>Isolated angioid streaks</td></tr><tr><td>674947</td><td>Diffuse unilateral subacute neuroretinitis</td></tr><tr><td>674953</td><td>Multiple evanescent white dot syndrome</td></tr><tr><td>674958</td><td>Stellate multiform amelanotic choroidopathy</td></tr><tr><td>674965</td><td>Choroidal osteoma</td></tr><tr><td>674968</td><td>Bilateral diffuse uveal melanocytic proliferation disease</td></tr><tr><td>675216</td><td>Spinocerebellar ataxia type 27B</td></tr><tr><td>675359</td><td>Anastomosing haemangioma</td></tr><tr><td>675362</td><td>Hobnail hemangioma</td></tr><tr><td>675369</td><td>Microvenular haemangioma</td></tr><tr><td>675380</td><td>Isolated segmental infantile hemangioma</td></tr><tr><td>675396</td><td>Epithelioid hemangioma</td></tr><tr><td>675404</td><td>May-Thurner syndrome</td></tr><tr><td>675597</td><td>Acquired elastotic haemangioma</td></tr><tr><td>675628</td><td>TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome</td></tr><tr><td>675767</td><td>Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency</td></tr><tr><td>675775</td><td>Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome</td></tr><tr><td>675782</td><td>Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN</td></tr><tr><td>675814</td><td>Adenomatoid tumour of the pleura</td></tr><tr><td>675822</td><td>Well-differentiated papillary mesothelial tumour of the pleura</td></tr><tr><td>675833</td><td>Localized pleural mesothelioma</td></tr><tr><td>675837</td><td>Diffused pleural mesothelioma</td></tr><tr><td>675841</td><td>Pleural mesothelioma in situ</td></tr><tr><td>675976</td><td>Adenomatoid tumour of the peritoneum</td></tr><tr><td>676033</td><td>Well-differentiated papillary mesothelial tumour of the peritoneum</td></tr><tr><td>676036</td><td>Peritoneal mesothelioma in situ</td></tr><tr><td>676039</td><td>Combined immunodeficiency due to FOXN1 haploinsufficiency</td></tr><tr><td>676125</td><td>X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency</td></tr></table></li></ul></div>
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  <title value="eHDSI Rare Disease"/>
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  <contact>
    <name value="MyHealth@Eu"/>
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      <system value="url"/>
      <value
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  <description
               value="The Value Set is used to describe the problems and medication reasons."/>
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             value="Value Set includes a subset of the Orphanet Nomenclature Pack for codification which is released each year in July (https://www.orphadata.com/pack-nomenclature/). Countries that wish to translate the subset provided in this file should first check if an existing translation is available on Orphadata  (either as part of the nomenclature pack or as one of the languages of the nomenclature alignment files) so as to not duplicate efforts. Translations into languages not already distributed by Orphanet should be validated by a medical doctor/committee to ensure their accuracy and the Orphanet Coordinating team should be notified (partnerships.orphanet@inserm.fr). Any modifications/updates a user wishes to make to an existing translation distributed by Orphanet should contact the Orphanet Coordinating Team (partnerships.orphanet@inserm.fr)"/>
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        <display
                 value="Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"/>
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      <concept>
        <code value="6"/>
        <display value="3-methylcrotonyl-CoA carboxylase deficiency"/>
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      <concept>
        <code value="7"/>
        <display value="3C syndrome"/>
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      <concept>
        <code value="8"/>
        <display value="47,XYY syndrome"/>
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        <code value="9"/>
        <display value="Tetrasomy X"/>
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        <code value="10"/>
        <display value="48,XXYY syndrome"/>
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        <display value="Pentasomy X"/>
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        <code value="13"/>
        <display value="6-pyruvoyl-tetrahydropterin synthase deficiency"/>
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        <code value="14"/>
        <display value="Abetalipoproteinemia"/>
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      <concept>
        <code value="15"/>
        <display value="Achondroplasia"/>
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      <concept>
        <code value="16"/>
        <display value="Blue cone monochromatism"/>
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      <concept>
        <code value="17"/>
        <display
                 value="Fatal infantile lactic acidosis with methylmalonic aciduria"/>
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      <concept>
        <code value="18"/>
        <display value="Distal renal tubular acidosis"/>
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        <code value="20"/>
        <display value="3-hydroxy-3-methylglutaric aciduria"/>
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      <concept>
        <code value="22"/>
        <display value="Succinic semialdehyde dehydrogenase deficiency"/>
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      <concept>
        <code value="23"/>
        <display value="Argininosuccinic aciduria"/>
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      <concept>
        <code value="24"/>
        <display value="Fumaric aciduria"/>
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      <concept>
        <code value="25"/>
        <display value="Glutaryl-CoA dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="26"/>
        <display value="Methylmalonic acidemia with homocystinuria"/>
      </concept>
      <concept>
        <code value="27"/>
        <display value="Vitamin B12-unresponsive methylmalonic acidemia"/>
      </concept>
      <concept>
        <code value="28"/>
        <display value="Vitamin B12-responsive methylmalonic acidemia"/>
      </concept>
      <concept>
        <code value="29"/>
        <display value="Mevalonic aciduria"/>
      </concept>
      <concept>
        <code value="30"/>
        <display value="Hereditary orotic aciduria"/>
      </concept>
      <concept>
        <code value="31"/>
        <display value="Oxoglutaric aciduria"/>
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      <concept>
        <code value="32"/>
        <display value="Glutathione synthetase deficiency"/>
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      <concept>
        <code value="33"/>
        <display value="Isovaleric acidemia"/>
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      <concept>
        <code value="35"/>
        <display value="Propionic acidemia"/>
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      <concept>
        <code value="36"/>
        <display value="Acrocallosal syndrome"/>
      </concept>
      <concept>
        <code value="37"/>
        <display value="Acrodermatitis enteropathica"/>
      </concept>
      <concept>
        <code value="38"/>
        <display value="Acrokeratoelastoidosis of Costa"/>
      </concept>
      <concept>
        <code value="39"/>
        <display value="Acromelanosis"/>
      </concept>
      <concept>
        <code value="40"/>
        <display value="Acromesomelic dysplasia, Maroteaux type"/>
      </concept>
      <concept>
        <code value="41"/>
        <display value="Dyschromatosis symmetrica hereditaria"/>
      </concept>
      <concept>
        <code value="42"/>
        <display value="Medium chain acyl-CoA dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="43"/>
        <display value="X-linked adrenoleukodystrophy"/>
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      <concept>
        <code value="44"/>
        <display value="Neonatal adrenoleukodystrophy"/>
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      <concept>
        <code value="45"/>
        <display value="Adenosine monophosphate deaminase deficiency"/>
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      <concept>
        <code value="46"/>
        <display value="Adenylosuccinate lyase deficiency"/>
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      <concept>
        <code value="47"/>
        <display value="X-linked agammaglobulinemia"/>
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      <concept>
        <code value="48"/>
        <display value="Congenital bilateral absence of vas deferens"/>
      </concept>
      <concept>
        <code value="49"/>
        <display value="Penile agenesis"/>
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      <concept>
        <code value="50"/>
        <display value="Aicardi syndrome"/>
      </concept>
      <concept>
        <code value="51"/>
        <display value="Aicardi-Goutières syndrome"/>
      </concept>
      <concept>
        <code value="52"/>
        <display value="Alagille syndrome"/>
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      <concept>
        <code value="53"/>
        <display value="Albers-Schönberg osteopetrosis"/>
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      <concept>
        <code value="54"/>
        <display value="X-linked recessive ocular albinism"/>
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      <concept>
        <code value="56"/>
        <display value="Alkaptonuria"/>
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      <concept>
        <code value="57"/>
        <display
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      <concept>
        <code value="58"/>
        <display value="Alexander disease"/>
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      <concept>
        <code value="59"/>
        <display value="Allan-Herndon-Dudley syndrome"/>
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      <concept>
        <code value="60"/>
        <display value="Alpha-1-antitrypsin deficiency"/>
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      <concept>
        <code value="61"/>
        <display value="Alpha-mannosidosis"/>
      </concept>
      <concept>
        <code value="62"/>
        <display
                 value="Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3"/>
      </concept>
      <concept>
        <code value="63"/>
        <display value="Alport syndrome"/>
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      <concept>
        <code value="64"/>
        <display value="Alström syndrome"/>
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      <concept>
        <code value="65"/>
        <display value="Leber congenital amaurosis"/>
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      <concept>
        <code value="67"/>
        <display value="Amoebiasis due to Entamoeba histolytica"/>
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        <code value="68"/>
        <display value="Amoebiasis due to free-living amoebae"/>
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        <code value="70"/>
        <display value="Proximal spinal muscular atrophy"/>
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        <code value="71"/>
        <display value="Chylomicron retention disease"/>
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      <concept>
        <code value="72"/>
        <display value="Angelman syndrome"/>
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      <concept>
        <code value="73"/>
        <display value="Gorham-Stout disease"/>
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      <concept>
        <code value="74"/>
        <display value="Angiostrongyliasis"/>
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      <concept>
        <code value="76"/>
        <display value="Strongyloidiasis"/>
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      <concept>
        <code value="78"/>
        <display value="Ankylostomiasis"/>
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        <code value="79"/>
        <display value="Congenital alpha2-antiplasmin deficiency"/>
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      <concept>
        <code value="80"/>
        <display value="Antiphospholipid syndrome"/>
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        <code value="81"/>
        <display value="Antisynthetase syndrome"/>
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        <code value="82"/>
        <display
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        <code value="83"/>
        <display value="Antley-Bixler syndrome"/>
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        <code value="84"/>
        <display value="Fanconi anemia"/>
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        <code value="86"/>
        <display value="Familial abdominal aortic aneurysm"/>
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        <code value="87"/>
        <display value="Apert syndrome"/>
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      <concept>
        <code value="88"/>
        <display value="Idiopathic aplastic anemia"/>
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        <code value="90"/>
        <display value="Argininemia"/>
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      <concept>
        <code value="91"/>
        <display value="Aromatase deficiency"/>
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      <concept>
        <code value="93"/>
        <display value="Aspartylglucosaminuria"/>
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        <code value="95"/>
        <display value="Friedreich ataxia"/>
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        <code value="96"/>
        <display value="Ataxia with vitamin E deficiency"/>
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        <code value="97"/>
        <display value="Familial paroxysmal ataxia"/>
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      <concept>
        <code value="98"/>
        <display
                 value="Autosomal recessive spastic ataxia of Charlevoix-Saguenay"/>
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      <concept>
        <code value="100"/>
        <display value="Ataxia-telangiectasia"/>
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      <concept>
        <code value="101"/>
        <display value="Dentatorubral pallidoluysian atrophy"/>
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      <concept>
        <code value="102"/>
        <display value="Multiple system atrophy"/>
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      <concept>
        <code value="104"/>
        <display value="Leber hereditary optic neuropathy"/>
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      <concept>
        <code value="105"/>
        <display value="Atresia of urethra"/>
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      <concept>
        <code value="107"/>
        <display value="BOR syndrome"/>
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      <concept>
        <code value="108"/>
        <display value="Babesiosis"/>
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        <code value="109"/>
        <display value="Bannayan-Riley-Ruvalcaba syndrome"/>
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        <code value="110"/>
        <display value="Bardet-Biedl syndrome"/>
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      <concept>
        <code value="111"/>
        <display value="Barth syndrome"/>
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      <concept>
        <code value="112"/>
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        <display value="Bazex-Dupré-Christol syndrome"/>
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        <display value="Auriculoosteodysplasia"/>
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        <display value="Congenital contractural arachnodactyly"/>
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        <display value="Behçet disease"/>
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        <display value="Beta-mannosidosis"/>
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        <code value="123"/>
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        <display value="Diamond-Blackfan anemia"/>
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        <display value="Bloom syndrome"/>
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        <code value="126"/>
        <display
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        <code value="127"/>
        <display value="Borjeson-Forssman-Lehmann syndrome"/>
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      <concept>
        <code value="128"/>
        <display value="Diphyllobothriasis"/>
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        <code value="129"/>
        <display value="Pseudopelade of Brocq"/>
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      <concept>
        <code value="130"/>
        <display value="Brugada syndrome"/>
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        <code value="131"/>
        <display value="Budd-Chiari syndrome"/>
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        <code value="132"/>
        <display value="Hereditary butyrylcholinesterase deficiency"/>
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      <concept>
        <code value="133"/>
        <display value="Chronic beryllium disease"/>
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      <concept>
        <code value="134"/>
        <display value="Beta-ketothiolase deficiency"/>
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      <concept>
        <code value="135"/>
        <display value="CACH syndrome"/>
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      <concept>
        <code value="136"/>
        <display
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      <concept>
        <code value="138"/>
        <display value="CHARGE syndrome"/>
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      <concept>
        <code value="139"/>
        <display value="CHILD syndrome"/>
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      <concept>
        <code value="140"/>
        <display value="Campomelic dysplasia"/>
      </concept>
      <concept>
        <code value="141"/>
        <display value="Canavan disease"/>
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      <concept>
        <code value="142"/>
        <display value="Anaplastic thyroid carcinoma"/>
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      <concept>
        <code value="143"/>
        <display value="Parathyroid carcinoma"/>
      </concept>
      <concept>
        <code value="144"/>
        <display value="Lynch syndrome"/>
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      <concept>
        <code value="145"/>
        <display value="Hereditary breast and/or ovarian cancer syndrome"/>
      </concept>
      <concept>
        <code value="146"/>
        <display value="Differentiated thyroid carcinoma"/>
      </concept>
      <concept>
        <code value="147"/>
        <display value="Carbamoyl-phosphate synthetase 1 deficiency"/>
      </concept>
      <concept>
        <code value="150"/>
        <display value="Nasopharyngeal carcinoma"/>
      </concept>
      <concept>
        <code value="154"/>
        <display value="Familial isolated dilated cardiomyopathy"/>
      </concept>
      <concept>
        <code value="156"/>
        <display value="Carnitine palmitoyl transferase 1A deficiency"/>
      </concept>
      <concept>
        <code value="157"/>
        <display value="Carnitine palmitoyltransferase II deficiency"/>
      </concept>
      <concept>
        <code value="158"/>
        <display value="Systemic primary carnitine deficiency"/>
      </concept>
      <concept>
        <code value="159"/>
        <display value="Carnitine-acylcarnitine translocase deficiency"/>
      </concept>
      <concept>
        <code value="160"/>
        <display value="Castleman disease"/>
      </concept>
      <concept>
        <code value="162"/>
        <display
                 value="Congenital cataract-anterior segment dysgenesis syndrome"/>
      </concept>
      <concept>
        <code value="163"/>
        <display value="Hereditary hyperferritinemia-cataract syndrome"/>
      </concept>
      <concept>
        <code value="167"/>
        <display value="Chédiak-Higashi syndrome"/>
      </concept>
      <concept>
        <code value="168"/>
        <display value="Loose anagen syndrome"/>
      </concept>
      <concept>
        <code value="169"/>
        <display value="Ringed hair disease"/>
      </concept>
      <concept>
        <code value="170"/>
        <display value="Woolly hair"/>
      </concept>
      <concept>
        <code value="171"/>
        <display value="Primary sclerosing cholangitis"/>
      </concept>
      <concept>
        <code value="172"/>
        <display value="Progressive familial intrahepatic cholestasis"/>
      </concept>
      <concept>
        <code value="173"/>
        <display value="Cholera"/>
      </concept>
      <concept>
        <code value="174"/>
        <display value="Metaphyseal chondrodysplasia, Schmid type"/>
      </concept>
      <concept>
        <code value="175"/>
        <display value="Cartilage-hair hypoplasia"/>
      </concept>
      <concept>
        <code value="177"/>
        <display value="Rhizomelic chondrodysplasia punctata"/>
      </concept>
      <concept>
        <code value="178"/>
        <display value="Chordoma"/>
      </concept>
      <concept>
        <code value="179"/>
        <display value="Birdshot chorioretinopathy"/>
      </concept>
      <concept>
        <code value="180"/>
        <display value="Choroideremia"/>
      </concept>
      <concept>
        <code value="181"/>
        <display value="X-linked hypohidrotic ectodermal dysplasia"/>
      </concept>
      <concept>
        <code value="182"/>
        <display value="Chromomycosis"/>
      </concept>
      <concept>
        <code value="183"/>
        <display value="Eosinophilic granulomatosis with polyangiitis"/>
      </concept>
      <concept>
        <code value="184"/>
        <display value="Cherubism"/>
      </concept>
      <concept>
        <code value="185"/>
        <display value="Scimitar syndrome"/>
      </concept>
      <concept>
        <code value="186"/>
        <display value="Primary biliary cholangitis"/>
      </concept>
      <concept>
        <code value="188"/>
        <display value="Systemic capillary leak syndrome"/>
      </concept>
      <concept>
        <code value="189"/>
        <display value="Hidrotic ectodermal dysplasia"/>
      </concept>
      <concept>
        <code value="190"/>
        <display value="Coats disease"/>
      </concept>
      <concept>
        <code value="191"/>
        <display value="Cockayne syndrome"/>
      </concept>
      <concept>
        <code value="192"/>
        <display value="Coffin-Lowry syndrome"/>
      </concept>
      <concept>
        <code value="193"/>
        <display value="Cohen syndrome"/>
      </concept>
      <concept>
        <code value="195"/>
        <display value="Cat-eye syndrome"/>
      </concept>
      <concept>
        <code value="198"/>
        <display value="Occipital horn syndrome"/>
      </concept>
      <concept>
        <code value="199"/>
        <display value="Cornelia de Lange syndrome"/>
      </concept>
      <concept>
        <code value="200"/>
        <display value="Isolated corpus callosum agenesis"/>
      </concept>
      <concept>
        <code value="201"/>
        <display value="Cowden syndrome"/>
      </concept>
      <concept>
        <code value="202"/>
        <display value="Crandall syndrome"/>
      </concept>
      <concept>
        <code value="204"/>
        <display value="Sporadic Creutzfeldt-Jakob disease"/>
      </concept>
      <concept>
        <code value="205"/>
        <display value="Crigler-Najjar syndrome"/>
      </concept>
      <concept>
        <code value="207"/>
        <display value="Crouzon syndrome"/>
      </concept>
      <concept>
        <code value="210"/>
        <display value="Cyclosporiasis"/>
      </concept>
      <concept>
        <code value="211"/>
        <display value="Familial cylindromatosis"/>
      </concept>
      <concept>
        <code value="212"/>
        <display value="Cystathioninuria"/>
      </concept>
      <concept>
        <code value="213"/>
        <display value="Cystinosis"/>
      </concept>
      <concept>
        <code value="214"/>
        <display value="Cystinuria"/>
      </concept>
      <concept>
        <code value="215"/>
        <display value="Congenital stationary night blindness"/>
      </concept>
      <concept>
        <code value="217"/>
        <display value="Isolated Dandy-Walker malformation"/>
      </concept>
      <concept>
        <code value="218"/>
        <display value="Darier disease"/>
      </concept>
      <concept>
        <code value="219"/>
        <display
                 value="Delta-sarcoglycan-related limb-girdle muscular dystrophy R6"/>
      </concept>
      <concept>
        <code value="220"/>
        <display value="Denys-Drash syndrome"/>
      </concept>
      <concept>
        <code value="221"/>
        <display value="Dermatomyositis"/>
      </concept>
      <concept>
        <code value="222"/>
        <display value="Erosive pustular dermatosis of the scalp"/>
      </concept>
      <concept>
        <code value="223"/>
        <display value="Arginine vasopressin resistance"/>
      </concept>
      <concept>
        <code value="226"/>
        <display value="Dihydropteridine reductase deficiency"/>
      </concept>
      <concept>
        <code value="227"/>
        <display value="Diphallia"/>
      </concept>
      <concept>
        <code value="229"/>
        <display value="Familial aortic dissection"/>
      </concept>
      <concept>
        <code value="230"/>
        <display value="Dopamine beta-hydroxylase deficiency"/>
      </concept>
      <concept>
        <code value="231"/>
        <display value="Dracunculiasis"/>
      </concept>
      <concept>
        <code value="232"/>
        <display value="Sickle cell anemia"/>
      </concept>
      <concept>
        <code value="233"/>
        <display value="Duane retraction syndrome"/>
      </concept>
      <concept>
        <code value="234"/>
        <display value="Dubin-Johnson syndrome"/>
      </concept>
      <concept>
        <code value="235"/>
        <display value="Dubowitz syndrome"/>
      </concept>
      <concept>
        <code value="236"/>
        <display value="Trisomy 9p"/>
      </concept>
      <concept>
        <code value="237"/>
        <display value="Duplication of urethra"/>
      </concept>
      <concept>
        <code value="239"/>
        <display value="Dyggve-Melchior-Clausen disease"/>
      </concept>
      <concept>
        <code value="240"/>
        <display value="Léri-Weill dyschondrosteosis"/>
      </concept>
      <concept>
        <code value="241"/>
        <display value="Dyschromatosis universalis hereditaria"/>
      </concept>
      <concept>
        <code value="242"/>
        <display value="46,XY complete gonadal dysgenesis"/>
      </concept>
      <concept>
        <code value="243"/>
        <display value="46,XX gonadal dysgenesis"/>
      </concept>
      <concept>
        <code value="244"/>
        <display value="Primary ciliary dyskinesia"/>
      </concept>
      <concept>
        <code value="245"/>
        <display value="Nager syndrome"/>
      </concept>
      <concept>
        <code value="246"/>
        <display value="Postaxial acrofacial dysostosis"/>
      </concept>
      <concept>
        <code value="248"/>
        <display
                 value="Autosomal recessive hypohidrotic ectodermal dysplasia"/>
      </concept>
      <concept>
        <code value="249"/>
        <display value="Fibrous dysplasia of bone"/>
      </concept>
      <concept>
        <code value="256"/>
        <display value="Early-onset generalized limb-onset dystonia"/>
      </concept>
      <concept>
        <code value="257"/>
        <display
                 value="Epidermolysis bullosa simplex with muscular dystrophy"/>
      </concept>
      <concept>
        <code value="258"/>
        <display
                 value="Laminin subunit alpha 2-related congenital muscular dystrophy"/>
      </concept>
      <concept>
        <code value="261"/>
        <display value="Emery-Dreifuss muscular dystrophy"/>
      </concept>
      <concept>
        <code value="266"/>
        <display
                 value="Autosomal dominant limb-girdle muscular dystrophy type 1A"/>
      </concept>
      <concept>
        <code value="267"/>
        <display value="Calpain-3-related limb-girdle muscular dystrophy R1"/>
      </concept>
      <concept>
        <code value="268"/>
        <display value="Dysferlin-related limb-girdle muscular dystrophy R2"/>
      </concept>
      <concept>
        <code value="269"/>
        <display value="Facioscapulohumeral dystrophy"/>
      </concept>
      <concept>
        <code value="270"/>
        <display value="Oculopharyngeal muscular dystrophy"/>
      </concept>
      <concept>
        <code value="272"/>
        <display value="Congenital muscular dystrophy, Fukuyama type"/>
      </concept>
      <concept>
        <code value="273"/>
        <display value="Steinert myotonic dystrophy"/>
      </concept>
      <concept>
        <code value="274"/>
        <display value="Bernard-Soulier syndrome"/>
      </concept>
      <concept>
        <code value="275"/>
        <display
                 value="Severe combined immunodeficiency due to DCLRE1C deficiency"/>
      </concept>
      <concept>
        <code value="276"/>
        <display
                 value="T-B+ severe combined immunodeficiency due to gamma chain deficiency"/>
      </concept>
      <concept>
        <code value="277"/>
        <display
                 value="Severe combined immunodeficiency due to adenosine deaminase deficiency"/>
      </concept>
      <concept>
        <code value="280"/>
        <display value="Wolf-Hirschhorn syndrome"/>
      </concept>
      <concept>
        <code value="281"/>
        <display value="Monosomy 5p"/>
      </concept>
      <concept>
        <code value="283"/>
        <display value="Demodicidosis"/>
      </concept>
      <concept>
        <code value="284"/>
        <display value="Alveolar echinococcosis"/>
      </concept>
      <concept>
        <code value="285"/>
        <display value="Hypermobile Ehlers-Danlos syndrome"/>
      </concept>
      <concept>
        <code value="286"/>
        <display value="Vascular Ehlers-Danlos syndrome"/>
      </concept>
      <concept>
        <code value="287"/>
        <display value="Classical Ehlers-Danlos syndrome"/>
      </concept>
      <concept>
        <code value="288"/>
        <display value="Hereditary elliptocytosis"/>
      </concept>
      <concept>
        <code value="289"/>
        <display value="Ellis Van Creveld syndrome"/>
      </concept>
      <concept>
        <code value="290"/>
        <display value="Congenital rubella syndrome"/>
      </concept>
      <concept>
        <code value="291"/>
        <display value="Congenital varicella syndrome"/>
      </concept>
      <concept>
        <code value="292"/>
        <display value="Congenital enterovirus infection"/>
      </concept>
      <concept>
        <code value="293"/>
        <display value="Congenital herpes simplex virus infection"/>
      </concept>
      <concept>
        <code value="294"/>
        <display value="Fetal cytomegalovirus syndrome"/>
      </concept>
      <concept>
        <code value="295"/>
        <display value="Fetal parvovirus syndrome"/>
      </concept>
      <concept>
        <code value="296"/>
        <display value="Ollier disease"/>
      </concept>
      <concept>
        <code value="297"/>
        <display value="Tick-borne encephalitis"/>
      </concept>
      <concept>
        <code value="298"/>
        <display
                 value="Mitochondrial neurogastrointestinal encephalomyopathy"/>
      </concept>
      <concept>
        <code value="300"/>
        <display value="Bifunctional enzyme deficiency"/>
      </concept>
      <concept>
        <code value="302"/>
        <display value="Inherited epidermodysplasia verruciformis"/>
      </concept>
      <concept>
        <code value="306"/>
        <display value="Benign familial infantile epilepsy"/>
      </concept>
      <concept>
        <code value="307"/>
        <display value="Juvenile myoclonic epilepsy"/>
      </concept>
      <concept>
        <code value="308"/>
        <display value="Progressive myoclonic epilepsy type 1"/>
      </concept>
      <concept>
        <code value="312"/>
        <display value="Autosomal dominant epidermolytic ichthyosis"/>
      </concept>
      <concept>
        <code value="313"/>
        <display value="Lamellar ichthyosis"/>
      </concept>
      <concept>
        <code value="314"/>
        <display value="Erythroderma desquamativum"/>
      </concept>
      <concept>
        <code value="315"/>
        <display value="Erythrokeratoderma ''en cocardes''"/>
      </concept>
      <concept>
        <code value="316"/>
        <display value="Progressive symmetric erythrokeratodermia"/>
      </concept>
      <concept>
        <code value="317"/>
        <display value="Erythrokeratodermia variabilis"/>
      </concept>
      <concept>
        <code value="318"/>
        <display value="Acute erythroid leukemia"/>
      </concept>
      <concept>
        <code value="319"/>
        <display value="Skeletal Ewing sarcoma"/>
      </concept>
      <concept>
        <code value="320"/>
        <display value="Apparent mineralocorticoid excess"/>
      </concept>
      <concept>
        <code value="321"/>
        <display value="Multiple osteochondromas"/>
      </concept>
      <concept>
        <code value="322"/>
        <display value="Exstrophy-epispadias complex"/>
      </concept>
      <concept>
        <code value="324"/>
        <display value="Fabry disease"/>
      </concept>
      <concept>
        <code value="325"/>
        <display value="Congenital factor II deficiency"/>
      </concept>
      <concept>
        <code value="326"/>
        <display value="Congenital factor V deficiency"/>
      </concept>
      <concept>
        <code value="327"/>
        <display value="Congenital factor VII deficiency"/>
      </concept>
      <concept>
        <code value="328"/>
        <display value="Congenital factor X deficiency"/>
      </concept>
      <concept>
        <code value="329"/>
        <display value="Congenital factor XI deficiency"/>
      </concept>
      <concept>
        <code value="330"/>
        <display value="Congenital factor XII deficiency"/>
      </concept>
      <concept>
        <code value="331"/>
        <display value="Congenital factor XIII deficiency"/>
      </concept>
      <concept>
        <code value="332"/>
        <display value="Congenital intrinsic factor deficiency"/>
      </concept>
      <concept>
        <code value="333"/>
        <display value="Farber disease"/>
      </concept>
      <concept>
        <code value="334"/>
        <display value="Familial atrial fibrillation"/>
      </concept>
      <concept>
        <code value="335"/>
        <display value="Congenital fibrinogen deficiency"/>
      </concept>
      <concept>
        <code value="337"/>
        <display value="Fibrodysplasia ossificans progressiva"/>
      </concept>
      <concept>
        <code value="340"/>
        <display value="Hemorrhagic fever-renal syndrome"/>
      </concept>
      <concept>
        <code value="342"/>
        <display value="Familial Mediterranean fever"/>
      </concept>
      <concept>
        <code value="343"/>
        <display value="Hyperimmunoglobulinemia D with periodic fever"/>
      </concept>
      <concept>
        <code value="345"/>
        <display value="Dissecting cellulitis of the scalp"/>
      </concept>
      <concept>
        <code value="346"/>
        <display value="Quinquaud folliculitis decalvans"/>
      </concept>
      <concept>
        <code value="347"/>
        <display value="Frasier syndrome"/>
      </concept>
      <concept>
        <code value="348"/>
        <display value="Fructose-1,6-bisphosphatase deficiency"/>
      </concept>
      <concept>
        <code value="349"/>
        <display value="Fucosidosis"/>
      </concept>
      <concept>
        <code value="351"/>
        <display value="Galactosialidosis"/>
      </concept>
      <concept>
        <code value="353"/>
        <display
                 value="Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5"/>
      </concept>
      <concept>
        <code value="354"/>
        <display value="GM1 gangliosidosis"/>
      </concept>
      <concept>
        <code value="355"/>
        <display value="Gaucher disease"/>
      </concept>
      <concept>
        <code value="356"/>
        <display value="Gerstmann-Straussler-Scheinker syndrome"/>
      </concept>
      <concept>
        <code value="358"/>
        <display value="Gitelman syndrome"/>
      </concept>
      <concept>
        <code value="360"/>
        <display value="Glioblastoma"/>
      </concept>
      <concept>
        <code value="361"/>
        <display value="Familial glucocorticoid deficiency"/>
      </concept>
      <concept>
        <code value="364"/>
        <display
                 value="Glycogen storage disease due to glucose-6-phosphatase deficiency"/>
      </concept>
      <concept>
        <code value="365"/>
        <display
                 value="Glycogen storage disease due to acid maltase deficiency"/>
      </concept>
      <concept>
        <code value="366"/>
        <display
                 value="Glycogen storage disease due to glycogen debranching enzyme deficiency"/>
      </concept>
      <concept>
        <code value="367"/>
        <display
                 value="Glycogen storage disease due to glycogen branching enzyme deficiency"/>
      </concept>
      <concept>
        <code value="368"/>
        <display
                 value="Glycogen storage disease due to muscle glycogen phosphorylase deficiency"/>
      </concept>
      <concept>
        <code value="369"/>
        <display
                 value="Glycogen storage disease due to liver glycogen phosphorylase deficiency"/>
      </concept>
      <concept>
        <code value="371"/>
        <display
                 value="Glycogen storage disease due to muscle phosphofructokinase deficiency"/>
      </concept>
      <concept>
        <code value="373"/>
        <display value="Simpson-Golabi-Behmel syndrome"/>
      </concept>
      <concept>
        <code value="375"/>
        <display value="Anti-glomerular basement membrane disease"/>
      </concept>
      <concept>
        <code value="376"/>
        <display value="Gordon syndrome"/>
      </concept>
      <concept>
        <code value="377"/>
        <display value="Gorlin syndrome"/>
      </concept>
      <concept>
        <code value="379"/>
        <display value="Chronic granulomatous disease"/>
      </concept>
      <concept>
        <code value="380"/>
        <display value="Greig cephalopolysyndactyly syndrome"/>
      </concept>
      <concept>
        <code value="381"/>
        <display value="Griscelli syndrome"/>
      </concept>
      <concept>
        <code value="382"/>
        <display value="Guanidinoacetate methyltransferase deficiency"/>
      </concept>
      <concept>
        <code value="384"/>
        <display value="Huriez syndrome"/>
      </concept>
      <concept>
        <code value="386"/>
        <display value="Hepatic cystic hamartoma"/>
      </concept>
      <concept>
        <code value="388"/>
        <display value="Hirschsprung disease"/>
      </concept>
      <concept>
        <code value="389"/>
        <display value="Langerhans cell histiocytosis"/>
      </concept>
      <concept>
        <code value="390"/>
        <display value="Histoplasmosis"/>
      </concept>
      <concept>
        <code value="391"/>
        <display value="Classic Hodgkin lymphoma"/>
      </concept>
      <concept>
        <code value="392"/>
        <display value="Holt-Oram syndrome"/>
      </concept>
      <concept>
        <code value="393"/>
        <display value="46,XX testicular difference of sex development"/>
      </concept>
      <concept>
        <code value="394"/>
        <display
                 value="Homocystinuria due to cystathionine beta-synthase deficiency"/>
      </concept>
      <concept>
        <code value="395"/>
        <display
                 value="Homocystinuria due to methylene tetrahydrofolate reductase deficiency"/>
      </concept>
      <concept>
        <code value="396"/>
        <display value="Chronic hiccup"/>
      </concept>
      <concept>
        <code value="397"/>
        <display value="Giant cell arteritis"/>
      </concept>
      <concept>
        <code value="399"/>
        <display value="Huntington disease"/>
      </concept>
      <concept>
        <code value="400"/>
        <display value="Cystic echinococcosis"/>
      </concept>
      <concept>
        <code value="401"/>
        <display value="Hymenolepiasis"/>
      </concept>
      <concept>
        <code value="403"/>
        <display value="Familial hyperaldosteronism type I"/>
      </concept>
      <concept>
        <code value="404"/>
        <display value="Familial hyperaldosteronism type II"/>
      </concept>
      <concept>
        <code value="405"/>
        <display value="Familial hypocalciuric hypercalcemia"/>
      </concept>
      <concept>
        <code value="407"/>
        <display value="Glycine encephalopathy"/>
      </concept>
      <concept>
        <code value="408"/>
        <display value="Isolated glycerol kinase deficiency"/>
      </concept>
      <concept>
        <code value="409"/>
        <display value="Hyperkeratosis lenticularis perstans"/>
      </concept>
      <concept>
        <code value="412"/>
        <display value="Dysbetalipoproteinemia"/>
      </concept>
      <concept>
        <code value="414"/>
        <display value="Gyrate atrophy of choroid and retina"/>
      </concept>
      <concept>
        <code value="415"/>
        <display
                 value="Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"/>
      </concept>
      <concept>
        <code value="416"/>
        <display value="Primary hyperoxaluria"/>
      </concept>
      <concept>
        <code value="417"/>
        <display value="Neonatal severe primary hyperparathyroidism"/>
      </concept>
      <concept>
        <code value="419"/>
        <display value="Hyperprolinemia type 1"/>
      </concept>
      <concept>
        <code value="422"/>
        <display
                 value="Idiopathic/heritable pulmonary arterial hypertension"/>
      </concept>
      <concept>
        <code value="423"/>
        <display value="Malignant hyperthermia of anesthesia"/>
      </concept>
      <concept>
        <code value="424"/>
        <display
                 value="Familial hyperthyroidism due to mutations in TSH receptor"/>
      </concept>
      <concept>
        <code value="425"/>
        <display value="Apolipoprotein A-I deficiency"/>
      </concept>
      <concept>
        <code value="427"/>
        <display value="Familial hypoaldosteronism"/>
      </concept>
      <concept>
        <code value="428"/>
        <display value="Autosomal dominant hypocalcemia"/>
      </concept>
      <concept>
        <code value="429"/>
        <display value="Hypochondroplasia"/>
      </concept>
      <concept>
        <code value="432"/>
        <display value="Normosmic congenital hypogonadotropic hypogonadism"/>
      </concept>
      <concept>
        <code value="436"/>
        <display value="Hypophosphatasia"/>
      </concept>
      <concept>
        <code value="439"/>
        <display value="Isolated right ventricular hypoplasia"/>
      </concept>
      <concept>
        <code value="441"/>
        <display value="Pure autonomic failure"/>
      </concept>
      <concept>
        <code value="444"/>
        <display value="Marie Unna hereditary hypotrichosis"/>
      </concept>
      <concept>
        <code value="446"/>
        <display value="Neonatal hemochromatosis"/>
      </concept>
      <concept>
        <code value="447"/>
        <display value="Paroxysmal nocturnal hemoglobinuria"/>
      </concept>
      <concept>
        <code value="449"/>
        <display value="Hepatoblastoma"/>
      </concept>
      <concept>
        <code value="452"/>
        <display value="X-linked lissencephaly with abnormal genitalia"/>
      </concept>
      <concept>
        <code value="454"/>
        <display value="Acquired ichthyosis"/>
      </concept>
      <concept>
        <code value="455"/>
        <display value="Superficial epidermolytic ichthyosis"/>
      </concept>
      <concept>
        <code value="457"/>
        <display value="Harlequin ichthyosis"/>
      </concept>
      <concept>
        <code value="461"/>
        <display value="Recessive X-linked ichthyosis"/>
      </concept>
      <concept>
        <code value="464"/>
        <display value="Incontinentia pigmenti"/>
      </concept>
      <concept>
        <code value="465"/>
        <display
                 value="Congenital plasminogen activator inhibitor type 1 deficiency"/>
      </concept>
      <concept>
        <code value="466"/>
        <display value="Fatal familial insomnia"/>
      </concept>
      <concept>
        <code value="469"/>
        <display value="Hereditary fructose intolerance"/>
      </concept>
      <concept>
        <code value="470"/>
        <display value="Lysinuric protein intolerance"/>
      </concept>
      <concept>
        <code value="472"/>
        <display value="Isosporiasis"/>
      </concept>
      <concept>
        <code value="474"/>
        <display value="Jeune syndrome"/>
      </concept>
      <concept>
        <code value="475"/>
        <display value="Joubert syndrome"/>
      </concept>
      <concept>
        <code value="477"/>
        <display value="KID syndrome"/>
      </concept>
      <concept>
        <code value="478"/>
        <display value="Kallmann syndrome"/>
      </concept>
      <concept>
        <code value="480"/>
        <display value="Kearns-Sayre syndrome"/>
      </concept>
      <concept>
        <code value="481"/>
        <display value="Kennedy disease"/>
      </concept>
      <concept>
        <code value="482"/>
        <display value="Kimura disease"/>
      </concept>
      <concept>
        <code value="483"/>
        <display
                 value="Congenital high-molecular-weight kininogen deficiency"/>
      </concept>
      <concept>
        <code value="485"/>
        <display value="Kniest dysplasia"/>
      </concept>
      <concept>
        <code value="486"/>
        <display value="Autosomal dominant severe congenital neutropenia"/>
      </concept>
      <concept>
        <code value="487"/>
        <display value="Krabbe disease"/>
      </concept>
      <concept>
        <code value="488"/>
        <display value="Urachal cyst"/>
      </concept>
      <concept>
        <code value="490"/>
        <display value="Omphalomesenteric cyst"/>
      </concept>
      <concept>
        <code value="492"/>
        <display value="Proliferating trichilemmal cyst"/>
      </concept>
      <concept>
        <code value="493"/>
        <display value="Familial keratoacanthoma"/>
      </concept>
      <concept>
        <code value="494"/>
        <display value="Keratoderma hereditarium mutilans"/>
      </concept>
      <concept>
        <code value="495"/>
        <display
                 value="Transgrediens et progrediens palmoplantar keratoderma"/>
      </concept>
      <concept>
        <code value="499"/>
        <display value="Kerion celsi"/>
      </concept>
      <concept>
        <code value="500"/>
        <display value="Noonan syndrome with multiple lentigines"/>
      </concept>
      <concept>
        <code value="501"/>
        <display value="Lafora disease"/>
      </concept>
      <concept>
        <code value="502"/>
        <display value="Trichorhinophalangeal syndrome type 2"/>
      </concept>
      <concept>
        <code value="503"/>
        <display value="Larsen syndrome"/>
      </concept>
      <concept>
        <code value="504"/>
        <display value="Creeping myiasis"/>
      </concept>
      <concept>
        <code value="505"/>
        <display value="Graham Little-Piccardi-Lassueur syndrome"/>
      </concept>
      <concept>
        <code value="506"/>
        <display value="Leigh syndrome"/>
      </concept>
      <concept>
        <code value="507"/>
        <display value="Leishmaniasis"/>
      </concept>
      <concept>
        <code value="508"/>
        <display value="Leprechaunism"/>
      </concept>
      <concept>
        <code value="509"/>
        <display value="Leptospirosis"/>
      </concept>
      <concept>
        <code value="510"/>
        <display value="Lesch-Nyhan syndrome"/>
      </concept>
      <concept>
        <code value="511"/>
        <display value="Maple syrup urine disease"/>
      </concept>
      <concept>
        <code value="512"/>
        <display value="Metachromatic leukodystrophy"/>
      </concept>
      <concept>
        <code value="514"/>
        <display value="Acute monoblastic/monocytic leukemia"/>
      </concept>
      <concept>
        <code value="517"/>
        <display value="Acute myelomonocytic leukemia"/>
      </concept>
      <concept>
        <code value="518"/>
        <display value="Acute megakaryoblastic leukemia"/>
      </concept>
      <concept>
        <code value="520"/>
        <display value="Acute promyelocytic leukemia"/>
      </concept>
      <concept>
        <code value="521"/>
        <display value="Chronic myeloid leukemia"/>
      </concept>
      <concept>
        <code value="523"/>
        <display value="Hereditary leiomyomatosis and renal cell cancer"/>
      </concept>
      <concept>
        <code value="524"/>
        <display value="Li-Fraumeni syndrome"/>
      </concept>
      <concept>
        <code value="525"/>
        <display value="Lichen planopilaris"/>
      </concept>
      <concept>
        <code value="526"/>
        <display value="Liddle syndrome"/>
      </concept>
      <concept>
        <code value="528"/>
        <display value="Congenital generalized lipodystrophy"/>
      </concept>
      <concept>
        <code value="529"/>
        <display value="Roch-Leri mesosomatous lipomatosis"/>
      </concept>
      <concept>
        <code value="530"/>
        <display value="Lipoid proteinosis"/>
      </concept>
      <concept>
        <code value="531"/>
        <display value="Miller-Dieker syndrome"/>
      </concept>
      <concept>
        <code value="533"/>
        <display value="Listeriosis"/>
      </concept>
      <concept>
        <code value="534"/>
        <display value="Oculocerebrorenal syndrome of Lowe"/>
      </concept>
      <concept>
        <code value="536"/>
        <display value="Systemic lupus erythematosus"/>
      </concept>
      <concept>
        <code value="537"/>
        <display value="Toxic epidermal necrolysis"/>
      </concept>
      <concept>
        <code value="538"/>
        <display value="Lymphangioleiomyomatosis"/>
      </concept>
      <concept>
        <code value="540"/>
        <display value="Familial hemophagocytic lymphohistiocytosis"/>
      </concept>
      <concept>
        <code value="543"/>
        <display value="Burkitt lymphoma"/>
      </concept>
      <concept>
        <code value="545"/>
        <display value="Follicular lymphoma"/>
      </concept>
      <concept>
        <code value="548"/>
        <display value="Leprosy"/>
      </concept>
      <concept>
        <code value="549"/>
        <display value="Legionnaires disease"/>
      </concept>
      <concept>
        <code value="550"/>
        <display value="MELAS"/>
      </concept>
      <concept>
        <code value="551"/>
        <display value="MERRF"/>
      </concept>
      <concept>
        <code value="552"/>
        <display value="MODY"/>
      </concept>
      <concept>
        <code value="556"/>
        <display value="Malakoplakia"/>
      </concept>
      <concept>
        <code value="558"/>
        <display value="Marfan syndrome"/>
      </concept>
      <concept>
        <code value="559"/>
        <display value="Marinesco-Sjögren syndrome"/>
      </concept>
      <concept>
        <code value="560"/>
        <display value="Marshall syndrome"/>
      </concept>
      <concept>
        <code value="561"/>
        <display value="Marshall-Smith syndrome"/>
      </concept>
      <concept>
        <code value="562"/>
        <display value="McCune-Albright syndrome"/>
      </concept>
      <concept>
        <code value="563"/>
        <display value="Peripartum cardiomyopathy"/>
      </concept>
      <concept>
        <code value="564"/>
        <display value="Meckel syndrome"/>
      </concept>
      <concept>
        <code value="565"/>
        <display value="Menkes disease"/>
      </concept>
      <concept>
        <code value="566"/>
        <display value="Congenital microcoria"/>
      </concept>
      <concept>
        <code value="567"/>
        <display value="22q11.2 deletion syndrome"/>
      </concept>
      <concept>
        <code value="568"/>
        <display value="Microphthalmia, Lenz type"/>
      </concept>
      <concept>
        <code value="569"/>
        <display value="Familial or sporadic hemiplegic migraine"/>
      </concept>
      <concept>
        <code value="570"/>
        <display value="Moebius syndrome"/>
      </concept>
      <concept>
        <code value="572"/>
        <display
                 value="Immunodeficiency by defective expression of MHC class II"/>
      </concept>
      <concept>
        <code value="573"/>
        <display value="Monilethrix"/>
      </concept>
      <concept>
        <code value="574"/>
        <display value="21q deletion syndrome"/>
      </concept>
      <concept>
        <code value="575"/>
        <display value="Muckle-Wells syndrome"/>
      </concept>
      <concept>
        <code value="576"/>
        <display value="Mucolipidosis type II"/>
      </concept>
      <concept>
        <code value="577"/>
        <display value="Mucolipidosis type III"/>
      </concept>
      <concept>
        <code value="578"/>
        <display value="Mucolipidosis type IV"/>
      </concept>
      <concept>
        <code value="579"/>
        <display value="Mucopolysaccharidosis type 1"/>
      </concept>
      <concept>
        <code value="580"/>
        <display value="Mucopolysaccharidosis type 2"/>
      </concept>
      <concept>
        <code value="581"/>
        <display value="Mucopolysaccharidosis type 3"/>
      </concept>
      <concept>
        <code value="582"/>
        <display value="Mucopolysaccharidosis type 4"/>
      </concept>
      <concept>
        <code value="583"/>
        <display value="Mucopolysaccharidosis type 6"/>
      </concept>
      <concept>
        <code value="584"/>
        <display value="Mucopolysaccharidosis type 7"/>
      </concept>
      <concept>
        <code value="585"/>
        <display value="Multiple sulfatase deficiency"/>
      </concept>
      <concept>
        <code value="586"/>
        <display value="Cystic fibrosis"/>
      </concept>
      <concept>
        <code value="588"/>
        <display value="Muscle-eye-brain disease"/>
      </concept>
      <concept>
        <code value="589"/>
        <display value="Myasthenia gravis"/>
      </concept>
      <concept>
        <code value="590"/>
        <display value="Congenital myasthenic syndrome"/>
      </concept>
      <concept>
        <code value="591"/>
        <display value="Furuncular myiasis"/>
      </concept>
      <concept>
        <code value="592"/>
        <display value="Macrophagic myofasciitis"/>
      </concept>
      <concept>
        <code value="596"/>
        <display value="X-linked centronuclear myopathy"/>
      </concept>
      <concept>
        <code value="597"/>
        <display value="Central core disease"/>
      </concept>
      <concept>
        <code value="598"/>
        <display value="Multiminicore myopathy"/>
      </concept>
      <concept>
        <code value="600"/>
        <display value="Vocal cord and pharyngeal distal myopathy"/>
      </concept>
      <concept>
        <code value="602"/>
        <display value="GNE myopathy"/>
      </concept>
      <concept>
        <code value="603"/>
        <display value="Distal myopathy, Welander type"/>
      </concept>
      <concept>
        <code value="606"/>
        <display value="Proximal myotonic myopathy"/>
      </concept>
      <concept>
        <code value="609"/>
        <display value="Tibial muscular dystrophy"/>
      </concept>
      <concept>
        <code value="610"/>
        <display value="Bethlem muscular dystrophy"/>
      </concept>
      <concept>
        <code value="611"/>
        <display value="Inclusion body myositis"/>
      </concept>
      <concept>
        <code value="614"/>
        <display value="Thomsen and Becker disease"/>
      </concept>
      <concept>
        <code value="615"/>
        <display value="Familial atrial myxoma"/>
      </concept>
      <concept>
        <code value="616"/>
        <display value="Medulloblastoma"/>
      </concept>
      <concept>
        <code value="617"/>
        <display value="Congenital primary megaureter"/>
      </concept>
      <concept>
        <code value="618"/>
        <display value="Familial melanoma"/>
      </concept>
      <concept>
        <code value="621"/>
        <display value="Hereditary methemoglobinemia"/>
      </concept>
      <concept>
        <code value="622"/>
        <display value="Homocystinuria without methylmalonic aciduria"/>
      </concept>
      <concept>
        <code value="624"/>
        <display value="Familial multiple nevi flammei"/>
      </concept>
      <concept>
        <code value="626"/>
        <display value="Large congenital melanocytic nevus"/>
      </concept>
      <concept>
        <code value="627"/>
        <display value="Nance-Horan syndrome"/>
      </concept>
      <concept>
        <code value="628"/>
        <display value="Diastrophic dysplasia"/>
      </concept>
      <concept>
        <code value="629"/>
        <display
                 value="Short stature due to growth hormone qualitative anomaly"/>
      </concept>
      <concept>
        <code value="631"/>
        <display value="Non-acquired isolated growth hormone deficiency"/>
      </concept>
      <concept>
        <code value="632"/>
        <display
                 value="Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia"/>
      </concept>
      <concept>
        <code value="633"/>
        <display value="Laron syndrome"/>
      </concept>
      <concept>
        <code value="634"/>
        <display value="Netherton syndrome"/>
      </concept>
      <concept>
        <code value="635"/>
        <display value="Neuroblastoma"/>
      </concept>
      <concept>
        <code value="636"/>
        <display value="Neurofibromatosis type 1"/>
      </concept>
      <concept>
        <code value="637"/>
        <display value="Full NF2-related schwannomatosis"/>
      </concept>
      <concept>
        <code value="638"/>
        <display value="Neurofibromatosis-Noonan syndrome"/>
      </concept>
      <concept>
        <code value="639"/>
        <display
                 value="Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG"/>
      </concept>
      <concept>
        <code value="640"/>
        <display
                 value="Hereditary neuropathy with liability to pressure palsies"/>
      </concept>
      <concept>
        <code value="641"/>
        <display value="Multifocal motor neuropathy"/>
      </concept>
      <concept>
        <code value="642"/>
        <display value="Hereditary sensory and autonomic neuropathy type 4"/>
      </concept>
      <concept>
        <code value="643"/>
        <display value="Giant axonal neuropathy"/>
      </concept>
      <concept>
        <code value="644"/>
        <display value="NARP syndrome"/>
      </concept>
      <concept>
        <code value="646"/>
        <display value="Niemann-Pick disease type C"/>
      </concept>
      <concept>
        <code value="647"/>
        <display value="Nijmegen breakage syndrome"/>
      </concept>
      <concept>
        <code value="648"/>
        <display value="Noonan syndrome"/>
      </concept>
      <concept>
        <code value="649"/>
        <display value="Norrie disease"/>
      </concept>
      <concept>
        <code value="650"/>
        <display value="LCAT deficiency"/>
      </concept>
      <concept>
        <code value="652"/>
        <display value="Multiple endocrine neoplasia type 1"/>
      </concept>
      <concept>
        <code value="653"/>
        <display value="Multiple endocrine neoplasia type 2"/>
      </concept>
      <concept>
        <code value="654"/>
        <display value="Nephroblastoma"/>
      </concept>
      <concept>
        <code value="655"/>
        <display value="Nephronophthisis"/>
      </concept>
      <concept>
        <code value="656"/>
        <display value="Genetic steroid-resistant nephrotic syndrome"/>
      </concept>
      <concept>
        <code value="659"/>
        <display
                 value="Mutilating palmoplantar keratoderma with periorificial keratotic plaques"/>
      </concept>
      <concept>
        <code value="660"/>
        <display value="Omphalocele"/>
      </concept>
      <concept>
        <code value="661"/>
        <display value="Congenital central hypoventilation syndrome"/>
      </concept>
      <concept>
        <code value="662"/>
        <display value="Yellow nail syndrome"/>
      </concept>
      <concept>
        <code value="663"/>
        <display
                 value="Mitochondrial DNA-related progressive external ophthalmoplegia"/>
      </concept>
      <concept>
        <code value="664"/>
        <display value="Ornithine transcarbamylase deficiency"/>
      </concept>
      <concept>
        <code value="666"/>
        <display value="Osteogenesis imperfecta"/>
      </concept>
      <concept>
        <code value="667"/>
        <display value="Autosomal recessive malignant osteopetrosis"/>
      </concept>
      <concept>
        <code value="668"/>
        <display value="Osteosarcoma"/>
      </concept>
      <concept>
        <code value="672"/>
        <display value="Pallister-Hall syndrome"/>
      </concept>
      <concept>
        <code value="673"/>
        <display value="Malaria"/>
      </concept>
      <concept>
        <code value="674"/>
        <display value="Accessory pancreas"/>
      </concept>
      <concept>
        <code value="675"/>
        <display value="Annular pancreas"/>
      </concept>
      <concept>
        <code value="676"/>
        <display value="Hereditary chronic pancreatitis"/>
      </concept>
      <concept>
        <code value="677"/>
        <display value="Pancreatoblastoma"/>
      </concept>
      <concept>
        <code value="678"/>
        <display value="Papillon-Lefèvre syndrome"/>
      </concept>
      <concept>
        <code value="679"/>
        <display value="Malignant atrophic papulosis"/>
      </concept>
      <concept>
        <code value="681"/>
        <display value="Hypokalemic periodic paralysis"/>
      </concept>
      <concept>
        <code value="682"/>
        <display value="Hyperkalemic periodic paralysis"/>
      </concept>
      <concept>
        <code value="683"/>
        <display value="Progressive supranuclear palsy"/>
      </concept>
      <concept>
        <code value="684"/>
        <display value="Paramyotonia congenita of Von Eulenburg"/>
      </concept>
      <concept>
        <code value="699"/>
        <display value="Pearson syndrome"/>
      </concept>
      <concept>
        <code value="700"/>
        <display value="Alopecia totalis"/>
      </concept>
      <concept>
        <code value="701"/>
        <display value="Alopecia universalis"/>
      </concept>
      <concept>
        <code value="702"/>
        <display value="Pelizaeus-Merzbacher disease"/>
      </concept>
      <concept>
        <code value="703"/>
        <display value="Bullous pemphigoid"/>
      </concept>
      <concept>
        <code value="704"/>
        <display value="Pemphigus vulgaris"/>
      </concept>
      <concept>
        <code value="705"/>
        <display value="Pendred syndrome"/>
      </concept>
      <concept>
        <code value="707"/>
        <display value="Plague"/>
      </concept>
      <concept>
        <code value="708"/>
        <display value="Peters anomaly"/>
      </concept>
      <concept>
        <code value="709"/>
        <display value="Peters plus syndrome"/>
      </concept>
      <concept>
        <code value="710"/>
        <display value="Pfeiffer syndrome"/>
      </concept>
      <concept>
        <code value="712"/>
        <display
                 value="Hemolytic anemia due to glucophosphate isomerase deficiency"/>
      </concept>
      <concept>
        <code value="713"/>
        <display
                 value="Glycogen storage disease due to phosphoglycerate kinase 1 deficiency"/>
      </concept>
      <concept>
        <code value="714"/>
        <display
                 value="Hemolytic anemia due to diphosphoglycerate mutase deficiency"/>
      </concept>
      <concept>
        <code value="715"/>
        <display
                 value="Glycogen storage disease due to muscle phosphorylase kinase deficiency"/>
      </concept>
      <concept>
        <code value="716"/>
        <display value="Phenylketonuria"/>
      </concept>
      <concept>
        <code value="718"/>
        <display value="Isolated Pierre Robin syndrome"/>
      </concept>
      <concept>
        <code value="720"/>
        <display value="Pili bifurcati"/>
      </concept>
      <concept>
        <code value="721"/>
        <display value="Gray platelet syndrome"/>
      </concept>
      <concept>
        <code value="722"/>
        <display value="Hypoplasminogenemia"/>
      </concept>
      <concept>
        <code value="723"/>
        <display value="Pneumocystosis"/>
      </concept>
      <concept>
        <code value="724"/>
        <display value="Idiopathic acute eosinophilic pneumonia"/>
      </concept>
      <concept>
        <code value="725"/>
        <display value="Continuous spikes and waves during sleep"/>
      </concept>
      <concept>
        <code value="726"/>
        <display value="Alpers-Huttenlocher syndrome"/>
      </concept>
      <concept>
        <code value="727"/>
        <display value="Microscopic polyangiitis"/>
      </concept>
      <concept>
        <code value="728"/>
        <display value="Relapsing polychondritis"/>
      </concept>
      <concept>
        <code value="729"/>
        <display value="Polycythemia vera"/>
      </concept>
      <concept>
        <code value="730"/>
        <display value="Autosomal dominant polycystic kidney disease"/>
      </concept>
      <concept>
        <code value="731"/>
        <display value="Autosomal recessive polycystic kidney disease"/>
      </concept>
      <concept>
        <code value="732"/>
        <display value="Polymyositis"/>
      </concept>
      <concept>
        <code value="733"/>
        <display value="Familial adenomatous polyposis"/>
      </concept>
      <concept>
        <code value="734"/>
        <display value="Alpha delta granule deficiency"/>
      </concept>
      <concept>
        <code value="735"/>
        <display value="Porokeratosis of Mibelli"/>
      </concept>
      <concept>
        <code value="737"/>
        <display value="Porokeratosis plantaris palmaris et disseminata"/>
      </concept>
      <concept>
        <code value="739"/>
        <display value="Prader-Willi syndrome"/>
      </concept>
      <concept>
        <code value="740"/>
        <display value="Hutchinson-Gilford progeria syndrome"/>
      </concept>
      <concept>
        <code value="741"/>
        <display value="Familial mitral valve prolapse"/>
      </concept>
      <concept>
        <code value="742"/>
        <display value="Prolidase deficiency"/>
      </concept>
      <concept>
        <code value="743"/>
        <display
                 value="Severe hereditary thrombophilia due to congenital protein S deficiency"/>
      </concept>
      <concept>
        <code value="744"/>
        <display value="Proteus syndrome"/>
      </concept>
      <concept>
        <code value="745"/>
        <display
                 value="Severe hereditary thrombophilia due to congenital protein C deficiency"/>
      </concept>
      <concept>
        <code value="746"/>
        <display value="Mitochondrial trifunctional protein deficiency"/>
      </concept>
      <concept>
        <code value="747"/>
        <display value="Autoimmune pulmonary alveolar proteinosis"/>
      </concept>
      <concept>
        <code value="749"/>
        <display value="Congenital prekallikrein deficiency"/>
      </concept>
      <concept>
        <code value="750"/>
        <display value="Pseudoachondroplasia"/>
      </concept>
      <concept>
        <code value="752"/>
        <display
                 value="46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"/>
      </concept>
      <concept>
        <code value="753"/>
        <display
                 value="46,XY difference of sex development due to 5-alpha-reductase 2 deficiency"/>
      </concept>
      <concept>
        <code value="755"/>
        <display value="Leydig cell hypoplasia"/>
      </concept>
      <concept>
        <code value="756"/>
        <display value="Pseudohypoaldosteronism type 1"/>
      </concept>
      <concept>
        <code value="757"/>
        <display value="Pseudohypoaldosteronism type 2"/>
      </concept>
      <concept>
        <code value="758"/>
        <display value="Pseudoxanthoma elasticum"/>
      </concept>
      <concept>
        <code value="760"/>
        <display value="Purine nucleoside phosphorylase deficiency"/>
      </concept>
      <concept>
        <code value="761"/>
        <display value="Immunoglobulin A vasculitis"/>
      </concept>
      <concept>
        <code value="763"/>
        <display value="Pycnodysostosis"/>
      </concept>
      <concept>
        <code value="764"/>
        <display value="Pyomyositis"/>
      </concept>
      <concept>
        <code value="765"/>
        <display value="Pyruvate dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="766"/>
        <display
                 value="Hemolytic anemia due to red cell pyruvate kinase deficiency"/>
      </concept>
      <concept>
        <code value="767"/>
        <display value="Polyarteritis nodosa"/>
      </concept>
      <concept>
        <code value="769"/>
        <display value="Rabson-Mendenhall syndrome"/>
      </concept>
      <concept>
        <code value="770"/>
        <display value="Rabies"/>
      </concept>
      <concept>
        <code value="772"/>
        <display value="Infantile Refsum disease"/>
      </concept>
      <concept>
        <code value="773"/>
        <display value="Refsum disease"/>
      </concept>
      <concept>
        <code value="774"/>
        <display value="Hereditary hemorrhagic telangiectasia"/>
      </concept>
      <concept>
        <code value="776"/>
        <display value="Lujan-Fryns syndrome"/>
      </concept>
      <concept>
        <code value="777"/>
        <display value="X-linked non-syndromic intellectual disability"/>
      </concept>
      <concept>
        <code value="778"/>
        <display value="Rett syndrome"/>
      </concept>
      <concept>
        <code value="779"/>
        <display value="Reynolds syndrome"/>
      </concept>
      <concept>
        <code value="780"/>
        <display value="Rhabdomyosarcoma"/>
      </concept>
      <concept>
        <code value="781"/>
        <display value="Q fever"/>
      </concept>
      <concept>
        <code value="782"/>
        <display value="Axenfeld-Rieger syndrome"/>
      </concept>
      <concept>
        <code value="783"/>
        <display value="Rubinstein-Taybi syndrome"/>
      </concept>
      <concept>
        <code value="785"/>
        <display value="Estrogen resistance syndrome"/>
      </concept>
      <concept>
        <code value="786"/>
        <display value="Generalized glucocorticoid resistance syndrome"/>
      </concept>
      <concept>
        <code value="790"/>
        <display value="Retinoblastoma"/>
      </concept>
      <concept>
        <code value="791"/>
        <display value="Retinitis pigmentosa"/>
      </concept>
      <concept>
        <code value="792"/>
        <display value="X-linked retinoschisis"/>
      </concept>
      <concept>
        <code value="793"/>
        <display value="SAPHO syndrome"/>
      </concept>
      <concept>
        <code value="794"/>
        <display value="Saethre-Chotzen syndrome"/>
      </concept>
      <concept>
        <code value="796"/>
        <display value="Sandhoff disease"/>
      </concept>
      <concept>
        <code value="797"/>
        <display value="Sarcoidosis"/>
      </concept>
      <concept>
        <code value="798"/>
        <display value="Schinzel-Giedion syndrome"/>
      </concept>
      <concept>
        <code value="799"/>
        <display value="Schizencephaly"/>
      </concept>
      <concept>
        <code value="800"/>
        <display value="Schwartz-Jampel syndrome"/>
      </concept>
      <concept>
        <code value="803"/>
        <display value="Amyotrophic lateral sclerosis"/>
      </concept>
      <concept>
        <code value="805"/>
        <display value="Tuberous sclerosis complex"/>
      </concept>
      <concept>
        <code value="806"/>
        <display value="Scott syndrome"/>
      </concept>
      <concept>
        <code value="808"/>
        <display value="Seckel syndrome"/>
      </concept>
      <concept>
        <code value="809"/>
        <display value="Mixed connective tissue disease"/>
      </concept>
      <concept>
        <code value="810"/>
        <display value="Shigellosis"/>
      </concept>
      <concept>
        <code value="811"/>
        <display value="Shwachman-Diamond syndrome"/>
      </concept>
      <concept>
        <code value="812"/>
        <display value="Sialidosis type 1"/>
      </concept>
      <concept>
        <code value="813"/>
        <display value="Silver-Russell syndrome"/>
      </concept>
      <concept>
        <code value="816"/>
        <display value="Sjögren-Larsson syndrome"/>
      </concept>
      <concept>
        <code value="818"/>
        <display value="Smith-Lemli-Opitz syndrome"/>
      </concept>
      <concept>
        <code value="819"/>
        <display value="Smith-Magenis syndrome"/>
      </concept>
      <concept>
        <code value="820"/>
        <display value="Sneddon syndrome"/>
      </concept>
      <concept>
        <code value="821"/>
        <display value="Sotos syndrome"/>
      </concept>
      <concept>
        <code value="822"/>
        <display value="Hereditary spherocytosis"/>
      </concept>
      <concept>
        <code value="824"/>
        <display value="Primary myelofibrosis"/>
      </concept>
      <concept>
        <code value="826"/>
        <display value="Sporotrichosis"/>
      </concept>
      <concept>
        <code value="827"/>
        <display value="Stargardt disease"/>
      </concept>
      <concept>
        <code value="828"/>
        <display value="Stickler syndrome"/>
      </concept>
      <concept>
        <code value="829"/>
        <display value="Adult-onset Still disease"/>
      </concept>
      <concept>
        <code value="831"/>
        <display value="Congenital cervical spinal stenosis"/>
      </concept>
      <concept>
        <code value="832"/>
        <display value="Succinyl-CoA:3-oxoacid CoA transferase deficiency"/>
      </concept>
      <concept>
        <code value="833"/>
        <display value="Encephalopathy due to sulfite oxidase deficiency"/>
      </concept>
      <concept>
        <code value="834"/>
        <display value="Free sialic acid storage disease"/>
      </concept>
      <concept>
        <code value="838"/>
        <display value="Susac syndrome"/>
      </concept>
      <concept>
        <code value="839"/>
        <display value="Congenital nephrotic syndrome, Finnish type"/>
      </concept>
      <concept>
        <code value="840"/>
        <display value="Syringocystadenoma papilliferum"/>
      </concept>
      <concept>
        <code value="841"/>
        <display value="Sebocystomatosis"/>
      </concept>
      <concept>
        <code value="842"/>
        <display value="Testicular seminomatous germ cell tumor"/>
      </concept>
      <concept>
        <code value="844"/>
        <display value="Lown-Ganong-Levine syndrome"/>
      </concept>
      <concept>
        <code value="845"/>
        <display value="Tay-Sachs disease"/>
      </concept>
      <concept>
        <code value="846"/>
        <display value="Alpha-thalassemia"/>
      </concept>
      <concept>
        <code value="847"/>
        <display
                 value="X-linked alpha-thalassemia-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="848"/>
        <display value="Beta-thalassemia"/>
      </concept>
      <concept>
        <code value="849"/>
        <display value="Glanzmann thrombasthenia"/>
      </concept>
      <concept>
        <code value="851"/>
        <display value="Paris-Trousseau thrombocytopenia"/>
      </concept>
      <concept>
        <code value="852"/>
        <display value="X-linked thrombocytopenia with normal platelets"/>
      </concept>
      <concept>
        <code value="853"/>
        <display value="Fetal and neonatal alloimmune thrombocytopenia"/>
      </concept>
      <concept>
        <code value="854"/>
        <display value="Primitive portal vein thrombosis"/>
      </concept>
      <concept>
        <code value="857"/>
        <display value="Townes-Brocks syndrome"/>
      </concept>
      <concept>
        <code value="858"/>
        <display value="Congenital toxoplasmosis"/>
      </concept>
      <concept>
        <code value="859"/>
        <display value="Transcobalamin deficiency"/>
      </concept>
      <concept>
        <code value="860"/>
        <display
                 value="Congenitally uncorrected transposition of the great arteries"/>
      </concept>
      <concept>
        <code value="861"/>
        <display value="Treacher-Collins syndrome"/>
      </concept>
      <concept>
        <code value="863"/>
        <display value="Trichinellosis"/>
      </concept>
      <concept>
        <code value="864"/>
        <display value="Trichofolliculoma"/>
      </concept>
      <concept>
        <code value="867"/>
        <display value="Familial multiple trichoepithelioma"/>
      </concept>
      <concept>
        <code value="868"/>
        <display value="Triose phosphate-isomerase deficiency"/>
      </concept>
      <concept>
        <code value="869"/>
        <display value="Triple A syndrome"/>
      </concept>
      <concept>
        <code value="870"/>
        <display value="Down syndrome"/>
      </concept>
      <concept>
        <code value="871"/>
        <display value="Familial progressive cardiac conduction defect"/>
      </concept>
      <concept>
        <code value="873"/>
        <display value="Desmoid tumor"/>
      </concept>
      <concept>
        <code value="874"/>
        <display value="Primary adult heart tumor"/>
      </concept>
      <concept>
        <code value="875"/>
        <display value="Primary pediatric heart tumor"/>
      </concept>
      <concept>
        <code value="876"/>
        <display value="Yolk sac tumor"/>
      </concept>
      <concept>
        <code value="879"/>
        <display value="Tungiasis"/>
      </concept>
      <concept>
        <code value="881"/>
        <display value="Turner syndrome"/>
      </concept>
      <concept>
        <code value="882"/>
        <display value="Tyrosinemia type 1"/>
      </concept>
      <concept>
        <code value="883"/>
        <display value="Extragonadal teratoma"/>
      </concept>
      <concept>
        <code value="884"/>
        <display value="Tetrasomy 12p"/>
      </concept>
      <concept>
        <code value="886"/>
        <display value="Usher syndrome"/>
      </concept>
      <concept>
        <code value="887"/>
        <display value="VACTERL/VATER association"/>
      </concept>
      <concept>
        <code value="888"/>
        <display value="Van der Woude syndrome"/>
      </concept>
      <concept>
        <code value="889"/>
        <display value="Cutaneous small vessel vasculitis"/>
      </concept>
      <concept>
        <code value="890"/>
        <display value="Hepatic veno-occlusive disease"/>
      </concept>
      <concept>
        <code value="891"/>
        <display value="Familial exudative vitreoretinopathy"/>
      </concept>
      <concept>
        <code value="892"/>
        <display value="Von Hippel-Lindau disease"/>
      </concept>
      <concept>
        <code value="893"/>
        <display value="WAGR syndrome"/>
      </concept>
      <concept>
        <code value="894"/>
        <display value="Waardenburg syndrome type 1"/>
      </concept>
      <concept>
        <code value="895"/>
        <display value="Waardenburg syndrome type 2"/>
      </concept>
      <concept>
        <code value="896"/>
        <display value="Waardenburg syndrome type 3"/>
      </concept>
      <concept>
        <code value="897"/>
        <display value="Waardenburg-Shah syndrome"/>
      </concept>
      <concept>
        <code value="898"/>
        <display value="Wagner disease"/>
      </concept>
      <concept>
        <code value="899"/>
        <display value="Walker-Warburg syndrome"/>
      </concept>
      <concept>
        <code value="900"/>
        <display value="Granulomatosis with polyangiitis"/>
      </concept>
      <concept>
        <code value="901"/>
        <display value="Wells syndrome"/>
      </concept>
      <concept>
        <code value="902"/>
        <display value="Werner syndrome"/>
      </concept>
      <concept>
        <code value="903"/>
        <display value="Von Willebrand disease"/>
      </concept>
      <concept>
        <code value="904"/>
        <display value="Williams syndrome"/>
      </concept>
      <concept>
        <code value="905"/>
        <display value="Wilson disease"/>
      </concept>
      <concept>
        <code value="906"/>
        <display value="Wiskott-Aldrich syndrome"/>
      </concept>
      <concept>
        <code value="908"/>
        <display value="Fragile X syndrome"/>
      </concept>
      <concept>
        <code value="909"/>
        <display value="Cerebrotendinous xanthomatosis"/>
      </concept>
      <concept>
        <code value="910"/>
        <display value="Xeroderma pigmentosum"/>
      </concept>
      <concept>
        <code value="911"/>
        <display value="Combined immunodeficiency due to ZAP70 deficiency"/>
      </concept>
      <concept>
        <code value="912"/>
        <display value="Zellweger syndrome"/>
      </concept>
      <concept>
        <code value="913"/>
        <display value="Zollinger-Ellison syndrome"/>
      </concept>
      <concept>
        <code value="915"/>
        <display value="Aarskog-Scott syndrome"/>
      </concept>
      <concept>
        <code value="916"/>
        <display value="Aase-Smith syndrome"/>
      </concept>
      <concept>
        <code value="920"/>
        <display value="Ablepharon macrostomia syndrome"/>
      </concept>
      <concept>
        <code value="921"/>
        <display value="Abruzzo-Erickson syndrome"/>
      </concept>
      <concept>
        <code value="922"/>
        <display value="Familial nasal acilia"/>
      </concept>
      <concept>
        <code value="926"/>
        <display value="Acatalasemia"/>
      </concept>
      <concept>
        <code value="927"/>
        <display
                 value="Hyperammonemia due to N-acetylglutamate synthase deficiency"/>
      </concept>
      <concept>
        <code value="929"/>
        <display value="Achalasia-microcephaly syndrome"/>
      </concept>
      <concept>
        <code value="930"/>
        <display value="Idiopathic achalasia"/>
      </concept>
      <concept>
        <code value="931"/>
        <display value="Isolated acheiropodia"/>
      </concept>
      <concept>
        <code value="932"/>
        <display value="Achondrogenesis"/>
      </concept>
      <concept>
        <code value="935"/>
        <display
                 value="Short-limb skeletal dysplasia with severe combined immunodeficiency"/>
      </concept>
      <concept>
        <code value="939"/>
        <display value="3-hydroxyisobutyric aciduria"/>
      </concept>
      <concept>
        <code value="941"/>
        <display value="D-glyceric aciduria"/>
      </concept>
      <concept>
        <code value="943"/>
        <display value="Malonic aciduria"/>
      </concept>
      <concept>
        <code value="945"/>
        <display value="Acalvaria"/>
      </concept>
      <concept>
        <code value="949"/>
        <display value="Acrocraniofacial dysostosis"/>
      </concept>
      <concept>
        <code value="950"/>
        <display value="Acrodysostosis"/>
      </concept>
      <concept>
        <code value="952"/>
        <display value="Acrofacial dysostosis, Weyers type"/>
      </concept>
      <concept>
        <code value="955"/>
        <display value="Hajdu-Cheney syndrome"/>
      </concept>
      <concept>
        <code value="957"/>
        <display value="Acropectorovertebral dysplasia"/>
      </concept>
      <concept>
        <code value="958"/>
        <display value="Acro-renal-mandibular syndrome"/>
      </concept>
      <concept>
        <code value="959"/>
        <display value="Acro-renal-ocular syndrome"/>
      </concept>
      <concept>
        <code value="963"/>
        <display value="Acromegaly"/>
      </concept>
      <concept>
        <code value="968"/>
        <display value="Acromesomelic dysplasia, Hunter-Thompson type"/>
      </concept>
      <concept>
        <code value="969"/>
        <display value="Acromicric dysplasia"/>
      </concept>
      <concept>
        <code value="970"/>
        <display value="Hereditary sensory and autonomic neuropathy type 2"/>
      </concept>
      <concept>
        <code value="971"/>
        <display value="Acrorenal syndrome"/>
      </concept>
      <concept>
        <code value="972"/>
        <display value="Hereditary continuous muscle fiber activity"/>
      </concept>
      <concept>
        <code value="973"/>
        <display
                 value="Isolated absence/hypoplasia of fingers excluding thumb, unilateral"/>
      </concept>
      <concept>
        <code value="974"/>
        <display value="Adams-Oliver syndrome"/>
      </concept>
      <concept>
        <code value="976"/>
        <display value="Adenine phosphoribosyltransferase deficiency"/>
      </concept>
      <concept>
        <code value="977"/>
        <display value="Adrenomyodystrophy"/>
      </concept>
      <concept>
        <code value="978"/>
        <display value="ADULT syndrome"/>
      </concept>
      <concept>
        <code value="980"/>
        <display value="Absence of the pulmonary artery"/>
      </concept>
      <concept>
        <code value="981"/>
        <display value="Internal carotid absence"/>
      </concept>
      <concept>
        <code value="983"/>
        <display value="Testicular regression syndrome"/>
      </concept>
      <concept>
        <code value="984"/>
        <display value="Pulmonary agenesis"/>
      </concept>
      <concept>
        <code value="988"/>
        <display
                 value="Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"/>
      </concept>
      <concept>
        <code value="989"/>
        <display value="Hypoglossia-hypodactyly syndrome"/>
      </concept>
      <concept>
        <code value="990"/>
        <display value="Agnathia-holoprosencephaly-situs inversus syndrome"/>
      </concept>
      <concept>
        <code value="991"/>
        <display value="PAGOD syndrome"/>
      </concept>
      <concept>
        <code value="994"/>
        <display value="Fetal akinesia deformation sequence"/>
      </concept>
      <concept>
        <code value="998"/>
        <display value="Albinism-deafness syndrome"/>
      </concept>
      <concept>
        <code value="999"/>
        <display value="Ermine phenotype"/>
      </concept>
      <concept>
        <code value="1000"/>
        <display
                 value="Ocular albinism with late-onset sensorineural deafness"/>
      </concept>
      <concept>
        <code value="1001"/>
        <display value="2q37 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="1003"/>
        <display value="Scalp defects-postaxial polydactyly syndrome"/>
      </concept>
      <concept>
        <code value="1005"/>
        <display
                 value="Alopecia-contractures-dwarfism-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="1006"/>
        <display value="Alopecia antibody deficiency"/>
      </concept>
      <concept>
        <code value="1008"/>
        <display
                 value="Alopecia-epilepsy-pyorrhea-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="1010"/>
        <display
                 value="Autosomal dominant palmoplantar keratoderma and congenital alopecia"/>
      </concept>
      <concept>
        <code value="1014"/>
        <display
                 value="Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome"/>
      </concept>
      <concept>
        <code value="1018"/>
        <display value="X-linked Alport syndrome-diffuse leiomyomatosis"/>
      </concept>
      <concept>
        <code value="1020"/>
        <display value="Early-onset autosomal dominant Alzheimer disease"/>
      </concept>
      <concept>
        <code value="1021"/>
        <display value="Amaurosis-hypertrichosis syndrome"/>
      </concept>
      <concept>
        <code value="1023"/>
        <display value="Congenital generalized hypertrichosis, Ambras type"/>
      </concept>
      <concept>
        <code value="1027"/>
        <display value="Autosomal recessive amelia"/>
      </concept>
      <concept>
        <code value="1028"/>
        <display value="Amelo-onycho-hypohidrotic syndrome"/>
      </concept>
      <concept>
        <code value="1031"/>
        <display value="Enamel-renal syndrome"/>
      </concept>
      <concept>
        <code value="1035"/>
        <display value="Beta-mercaptolactate cysteine disulfiduria"/>
      </concept>
      <concept>
        <code value="1040"/>
        <display value="Metaphyseal anadysplasia"/>
      </concept>
      <concept>
        <code value="1041"/>
        <display value="Hydrops fetalis"/>
      </concept>
      <concept>
        <code value="1046"/>
        <display value="Lethal hemolytic anemia-genital anomalies syndrome"/>
      </concept>
      <concept>
        <code value="1048"/>
        <display value="Isolated anencephaly/exencephaly"/>
      </concept>
      <concept>
        <code value="1051"/>
        <display value="Ramos-Arroyo syndrome"/>
      </concept>
      <concept>
        <code value="1052"/>
        <display value="Mosaic variegated aneuploidy syndrome"/>
      </concept>
      <concept>
        <code value="1053"/>
        <display value="Vein of Galen aneurysmal malformation"/>
      </concept>
      <concept>
        <code value="1054"/>
        <display value="Aneurysm of sinus of Valsalva"/>
      </concept>
      <concept>
        <code value="1055"/>
        <display value="Congenital left ventricular aneurysm"/>
      </concept>
      <concept>
        <code value="1059"/>
        <display value="Blue rubber bleb nevus"/>
      </concept>
      <concept>
        <code value="1062"/>
        <display value="Hereditary neurocutaneous malformation"/>
      </concept>
      <concept>
        <code value="1063"/>
        <display value="Tufted angioma"/>
      </concept>
      <concept>
        <code value="1064"/>
        <display
                 value="Aniridia-renal agenesis-psychomotor retardation syndrome"/>
      </concept>
      <concept>
        <code value="1065"/>
        <display
                 value="Aniridia-cerebellar ataxia-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="1067"/>
        <display
                 value="Aniridia-ptosis-intellectual disability-familial obesity syndrome"/>
      </concept>
      <concept>
        <code value="1068"/>
        <display value="Aniridia-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="1069"/>
        <display value="Aniridia-absent patella syndrome"/>
      </concept>
      <concept>
        <code value="1070"/>
        <display value="Anisakiasis"/>
      </concept>
      <concept>
        <code value="1071"/>
        <display
                 value="Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"/>
      </concept>
      <concept>
        <code value="1072"/>
        <display
                 value="Ankyloblepharon filiforme adnatum-cleft palate syndrome"/>
      </concept>
      <concept>
        <code value="1074"/>
        <display
                 value="Ankyloblepharon filiforme adnatum-imperforate anus syndrome"/>
      </concept>
      <concept>
        <code value="1077"/>
        <display value="Dental ankylosis"/>
      </concept>
      <concept>
        <code value="1078"/>
        <display
                 value="Thumb stiffness-brachydactyly-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="1083"/>
        <display value="Microlissencephaly"/>
      </concept>
      <concept>
        <code value="1084"/>
        <display
                 value="Isolated lissencephaly type 1 without known genetic defects"/>
      </concept>
      <concept>
        <code value="1094"/>
        <display value="Anonychia-microcephaly syndrome"/>
      </concept>
      <concept>
        <code value="1101"/>
        <display
                 value="Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome"/>
      </concept>
      <concept>
        <code value="1104"/>
        <display value="Anophthalmia plus syndrome"/>
      </concept>
      <concept>
        <code value="1106"/>
        <display value="Microphthalmia with limb anomalies"/>
      </concept>
      <concept>
        <code value="1110"/>
        <display
                 value="Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="1112"/>
        <display
                 value="Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome"/>
      </concept>
      <concept>
        <code value="1113"/>
        <display value="Aphalangy-syndactyly-microcephaly syndrome"/>
      </concept>
      <concept>
        <code value="1114"/>
        <display value="Aplasia cutis congenita"/>
      </concept>
      <concept>
        <code value="1116"/>
        <display
                 value="Aplasia cutis congenita-intestinal lymphangiectasia syndrome"/>
      </concept>
      <concept>
        <code value="1117"/>
        <display value="Aplasia cutis-myopia syndrome"/>
      </concept>
      <concept>
        <code value="1118"/>
        <display value="Fibular aplasia-ectrodactyly syndrome"/>
      </concept>
      <concept>
        <code value="1120"/>
        <display value="Lung agenesis-heart defect-thumb anomalies syndrome"/>
      </concept>
      <concept>
        <code value="1121"/>
        <display value="Radial deficiency-tibial hypoplasia syndrome"/>
      </concept>
      <concept>
        <code value="1122"/>
        <display value="Ulnar hypoplasia-split foot syndrome"/>
      </concept>
      <concept>
        <code value="1123"/>
        <display value="Caudal appendage-deafness syndrome"/>
      </concept>
      <concept>
        <code value="1125"/>
        <display value="Ocular motor apraxia, Cogan type"/>
      </concept>
      <concept>
        <code value="1126"/>
        <display value="Aprosencephaly cerebellar dysgenesis"/>
      </concept>
      <concept>
        <code value="1129"/>
        <display
                 value="Arachnodactyly-abnormal ossification-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="1130"/>
        <display
                 value="Arachnodactyly-intellectual disability-dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="1131"/>
        <display value="X-linked mandibulofacial dysostosis"/>
      </concept>
      <concept>
        <code value="1133"/>
        <display value="AREDYLD syndrome"/>
      </concept>
      <concept>
        <code value="1134"/>
        <display value="Isolated arrhinia"/>
      </concept>
      <concept>
        <code value="1135"/>
        <display value="Arrhinia-choanal atresia-microphthalmia syndrome"/>
      </concept>
      <concept>
        <code value="1143"/>
        <display value="Neurogenic arthrogryposis multiplex congenita"/>
      </concept>
      <concept>
        <code value="1144"/>
        <display
                 value="Arthrogryposis-like hand anomaly-sensorineural deafness syndrome"/>
      </concept>
      <concept>
        <code value="1145"/>
        <display value="Infantile-onset X-linked spinal muscular atrophy"/>
      </concept>
      <concept>
        <code value="1146"/>
        <display value="Distal arthrogryposis type 1"/>
      </concept>
      <concept>
        <code value="1147"/>
        <display value="Sheldon-Hall syndrome"/>
      </concept>
      <concept>
        <code value="1149"/>
        <display value="Kuskokwim syndrome"/>
      </concept>
      <concept>
        <code value="1150"/>
        <display
                 value="Arthrogryposis multiplex congenita-whistling face syndrome"/>
      </concept>
      <concept>
        <code value="1154"/>
        <display
                 value="Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome"/>
      </concept>
      <concept>
        <code value="1159"/>
        <display
                 value="Progressive pseudorheumatoid arthropathy of childhood"/>
      </concept>
      <concept>
        <code value="1160"/>
        <display value="Chylous ascites"/>
      </concept>
      <concept>
        <code value="1163"/>
        <display value="Aspergillosis"/>
      </concept>
      <concept>
        <code value="1164"/>
        <display value="Allergic bronchopulmonary aspergillosis"/>
      </concept>
      <concept>
        <code value="1166"/>
        <display
                 value="Congenital unilateral hypoplasia of depressor anguli oris"/>
      </concept>
      <concept>
        <code value="1168"/>
        <display value="Ataxia-oculomotor apraxia type 1"/>
      </concept>
      <concept>
        <code value="1170"/>
        <display
                 value="Autosomal recessive cerebelloparenchymal disorder type 3"/>
      </concept>
      <concept>
        <code value="1171"/>
        <display
                 value="Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome"/>
      </concept>
      <concept>
        <code value="1173"/>
        <display value="Cerebellar ataxia-hypogonadism syndrome"/>
      </concept>
      <concept>
        <code value="1174"/>
        <display value="Cerebellar ataxia-ectodermal dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="1175"/>
        <display value="X-linked progressive cerebellar ataxia"/>
      </concept>
      <concept>
        <code value="1177"/>
        <display
                 value="Early-onset cerebellar ataxia with retained tendon reflexes"/>
      </concept>
      <concept>
        <code value="1178"/>
        <display value="Ataxia-tapetoretinal degeneration syndrome"/>
      </concept>
      <concept>
        <code value="1179"/>
        <display
                 value="Benign paroxysmal tonic upgaze of childhood with ataxia"/>
      </concept>
      <concept>
        <code value="1180"/>
        <display value="Ataxia-hypogonadism-choroidal dystrophy syndrome"/>
      </concept>
      <concept>
        <code value="1182"/>
        <display value="Spastic ataxia with congenital miosis"/>
      </concept>
      <concept>
        <code value="1183"/>
        <display value="Opsoclonus-myoclonus syndrome"/>
      </concept>
      <concept>
        <code value="1184"/>
        <display value="Ataxia-photosensitivity-short stature syndrome"/>
      </concept>
      <concept>
        <code value="1185"/>
        <display value="Spinocerebellar ataxia-dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="1186"/>
        <display value="Infantile-onset spinocerebellar ataxia"/>
      </concept>
      <concept>
        <code value="1187"/>
        <display value="Lethal ataxia with deafness and optic atrophy"/>
      </concept>
      <concept>
        <code value="1188"/>
        <display value="Ataxia-deafness-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="1190"/>
        <display value="Atelosteogenesis type I"/>
      </concept>
      <concept>
        <code value="1192"/>
        <display
                 value="Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome"/>
      </concept>
      <concept>
        <code value="1193"/>
        <display value="Atkin-Flaitz syndrome"/>
      </concept>
      <concept>
        <code value="1194"/>
        <display
                 value="TMEM70-related mitochondrial encephalo-cardio-myopathy"/>
      </concept>
      <concept>
        <code value="1195"/>
        <display value="Congenital atransferrinemia"/>
      </concept>
      <concept>
        <code value="1198"/>
        <display value="Colonic atresia"/>
      </concept>
      <concept>
        <code value="1199"/>
        <display value="Esophageal atresia"/>
      </concept>
      <concept>
        <code value="1200"/>
        <display value="Burn-McKeown syndrome"/>
      </concept>
      <concept>
        <code value="1201"/>
        <display value="Small bowel atresia"/>
      </concept>
      <concept>
        <code value="1202"/>
        <display value="Larynx atresia"/>
      </concept>
      <concept>
        <code value="1203"/>
        <display value="Duodenal atresia"/>
      </concept>
      <concept>
        <code value="1205"/>
        <display value="Mitral atresia"/>
      </concept>
      <concept>
        <code value="1207"/>
        <display value="Pulmonary atresia with ventricular septal defect"/>
      </concept>
      <concept>
        <code value="1208"/>
        <display
                 value="Pulmonary atresia-intact ventricular septum syndrome"/>
      </concept>
      <concept>
        <code value="1209"/>
        <display value="Tricuspid atresia"/>
      </concept>
      <concept>
        <code value="1214"/>
        <display value="Progressive hemifacial atrophy"/>
      </concept>
      <concept>
        <code value="1215"/>
        <display value="Autosomal dominant optic atrophy plus syndrome"/>
      </concept>
      <concept>
        <code value="1216"/>
        <display
                 value="Autosomal dominant congenital benign spinal muscular atrophy"/>
      </concept>
      <concept>
        <code value="1217"/>
        <display value="Spinal atrophy-ophthalmoplegia-pyramidal syndrome"/>
      </concept>
      <concept>
        <code value="1221"/>
        <display value="Cheilitis glandularis"/>
      </concept>
      <concept>
        <code value="1223"/>
        <display value="Balantidiasis"/>
      </concept>
      <concept>
        <code value="1225"/>
        <display value="Baller-Gerold syndrome"/>
      </concept>
      <concept>
        <code value="1226"/>
        <display value="Bamforth-Lazarus syndrome"/>
      </concept>
      <concept>
        <code value="1227"/>
        <display value="Bangstad syndrome"/>
      </concept>
      <concept>
        <code value="1228"/>
        <display value="Banki syndrome"/>
      </concept>
      <concept>
        <code value="1229"/>
        <display value="Congenital intrauterine infection-like syndrome"/>
      </concept>
      <concept>
        <code value="1231"/>
        <display value="Barber-Say syndrome"/>
      </concept>
      <concept>
        <code value="1234"/>
        <display value="Bartsocas-Papas syndrome"/>
      </concept>
      <concept>
        <code value="1236"/>
        <display
                 value="Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome"/>
      </concept>
      <concept>
        <code value="1237"/>
        <display value="Beemer-Ertbruggen syndrome"/>
      </concept>
      <concept>
        <code value="1239"/>
        <display value="Behr syndrome"/>
      </concept>
      <concept>
        <code value="1241"/>
        <display value="Bencze syndrome"/>
      </concept>
      <concept>
        <code value="1243"/>
        <display value="Best vitelliform macular dystrophy"/>
      </concept>
      <concept>
        <code value="1246"/>
        <display value="Brachydactyly-nystagmus-cerebellar ataxia syndrome"/>
      </concept>
      <concept>
        <code value="1247"/>
        <display value="Schistosomiasis"/>
      </concept>
      <concept>
        <code value="1248"/>
        <display value="Maxillonasal dysplasia"/>
      </concept>
      <concept>
        <code value="1252"/>
        <display value="Blepharonasofacial malformation syndrome"/>
      </concept>
      <concept>
        <code value="1253"/>
        <display value="Ascher syndrome"/>
      </concept>
      <concept>
        <code value="1259"/>
        <display value="Blepharoptosis-myopia-ectopia lentis syndrome"/>
      </concept>
      <concept>
        <code value="1261"/>
        <display value="Bonnemann-Meinecke-Reich syndrome"/>
      </concept>
      <concept>
        <code value="1262"/>
        <display value="Böök syndrome"/>
      </concept>
      <concept>
        <code value="1263"/>
        <display value="Boomerang dysplasia"/>
      </concept>
      <concept>
        <code value="1264"/>
        <display value="Tricho-retino-dento-digital syndrome"/>
      </concept>
      <concept>
        <code value="1267"/>
        <display value="Botulism"/>
      </concept>
      <concept>
        <code value="1270"/>
        <display value="Bowen-Conradi syndrome"/>
      </concept>
      <concept>
        <code value="1272"/>
        <display value="Aymé-Gripp syndrome"/>
      </concept>
      <concept>
        <code value="1275"/>
        <display value="Brachydactyly-elbow wrist dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="1276"/>
        <display value="Brachydactyly-arterial hypertension syndrome"/>
      </concept>
      <concept>
        <code value="1277"/>
        <display
                 value="Brachydactyly-mesomelia-intellectual disability-heart defects syndrome"/>
      </concept>
      <concept>
        <code value="1278"/>
        <display value="Brachydactyly-preaxial hallux varus syndrome"/>
      </concept>
      <concept>
        <code value="1292"/>
        <display
                 value="Brachymorphism-onychodysplasia-dysphalangism syndrome"/>
      </concept>
      <concept>
        <code value="1295"/>
        <display value="Brachytelephalangy-dysmorphism-Kallmann syndrome"/>
      </concept>
      <concept>
        <code value="1296"/>
        <display value="Lambert syndrome"/>
      </concept>
      <concept>
        <code value="1297"/>
        <display value="Branchio-oculo-facial syndrome"/>
      </concept>
      <concept>
        <code value="1299"/>
        <display value="Branchioskeletogenital syndrome"/>
      </concept>
      <concept>
        <code value="1300"/>
        <display value="Autosomal dominant popliteal pterygium syndrome"/>
      </concept>
      <concept>
        <code value="1302"/>
        <display value="Cryptogenic organizing pneumonia"/>
      </concept>
      <concept>
        <code value="1304"/>
        <display value="Brucellosis"/>
      </concept>
      <concept>
        <code value="1305"/>
        <display value="Feingold syndrome"/>
      </concept>
      <concept>
        <code value="1307"/>
        <display value="Distal limb deficiencies-micrognathia syndrome"/>
      </concept>
      <concept>
        <code value="1308"/>
        <display value="C syndrome"/>
      </concept>
      <concept>
        <code value="1309"/>
        <display value="Medullary sponge kidney"/>
      </concept>
      <concept>
        <code value="1310"/>
        <display value="Caffey disease"/>
      </concept>
      <concept>
        <code value="1313"/>
        <display value="Infantile choroidocerebral calcification syndrome"/>
      </concept>
      <concept>
        <code value="1314"/>
        <display value="Symmetrical thalamic calcifications"/>
      </concept>
      <concept>
        <code value="1318"/>
        <display value="Campomelia, Cumming type"/>
      </concept>
      <concept>
        <code value="1319"/>
        <display value="Camptobrachydactyly"/>
      </concept>
      <concept>
        <code value="1320"/>
        <display value="Idiopathic camptocormia"/>
      </concept>
      <concept>
        <code value="1321"/>
        <display
                 value="Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome"/>
      </concept>
      <concept>
        <code value="1323"/>
        <display
                 value="Camptodactyly-joint contractures-facial skeletal defects syndrome"/>
      </concept>
      <concept>
        <code value="1325"/>
        <display value="Camptodactyly-taurinuria syndrome"/>
      </concept>
      <concept>
        <code value="1326"/>
        <display value="Camptodactyly syndrome, Guadalajara type 2"/>
      </concept>
      <concept>
        <code value="1327"/>
        <display value="Camptodactyly syndrome, Guadalajara type 1"/>
      </concept>
      <concept>
        <code value="1328"/>
        <display value="Camurati-Engelmann disease"/>
      </concept>
      <concept>
        <code value="1329"/>
        <display value="Complete atrioventricular septal defect"/>
      </concept>
      <concept>
        <code value="1330"/>
        <display value="Partial atrioventricular septal defect"/>
      </concept>
      <concept>
        <code value="1331"/>
        <display value="Familial prostate cancer"/>
      </concept>
      <concept>
        <code value="1332"/>
        <display value="Medullary thyroid carcinoma"/>
      </concept>
      <concept>
        <code value="1333"/>
        <display value="Familial pancreatic carcinoma"/>
      </concept>
      <concept>
        <code value="1334"/>
        <display value="Chronic mucocutaneous candidiasis"/>
      </concept>
      <concept>
        <code value="1335"/>
        <display value="Pentalogy of Cantrell"/>
      </concept>
      <concept>
        <code value="1336"/>
        <display value="Hyperkeratosis-hyperpigmentation syndrome"/>
      </concept>
      <concept>
        <code value="1338"/>
        <display
                 value="Heart defect-tongue hamartoma-polysyndactyly syndrome"/>
      </concept>
      <concept>
        <code value="1340"/>
        <display value="Cardiofaciocutaneous syndrome"/>
      </concept>
      <concept>
        <code value="1342"/>
        <display value="Heart-hand syndrome type 3"/>
      </concept>
      <concept>
        <code value="1344"/>
        <display value="Atrial standstill"/>
      </concept>
      <concept>
        <code value="1345"/>
        <display value="Cardiomyopathy-cataract-hip spine disease syndrome"/>
      </concept>
      <concept>
        <code value="1349"/>
        <display
                 value="Mitochondrial DNA-related cardiomyopathy and hearing loss"/>
      </concept>
      <concept>
        <code value="1350"/>
        <display value="Heart-hand syndrome type 2"/>
      </concept>
      <concept>
        <code value="1352"/>
        <display
                 value="Atrioventricular defect-blepharophimosis-radial and anal defect syndrome"/>
      </concept>
      <concept>
        <code value="1354"/>
        <display value="Heart defects-limb shortening syndrome"/>
      </concept>
      <concept>
        <code value="1355"/>
        <display
                 value="Congenital heart defect-round face-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="1358"/>
        <display value="Carey-Fineman-Ziter syndrome"/>
      </concept>
      <concept>
        <code value="1359"/>
        <display value="Carney complex"/>
      </concept>
      <concept>
        <code value="1361"/>
        <display value="Carnosinase deficiency"/>
      </concept>
      <concept>
        <code value="1366"/>
        <display
                 value="Autosomal recessive palmoplantar keratoderma and congenital alopecia"/>
      </concept>
      <concept>
        <code value="1368"/>
        <display value="Cataract-ataxia-deafness syndrome"/>
      </concept>
      <concept>
        <code value="1369"/>
        <display
                 value="Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome"/>
      </concept>
      <concept>
        <code value="1373"/>
        <display
                 value="Cataract-aberrant oral frenula-growth delay syndrome"/>
      </concept>
      <concept>
        <code value="1375"/>
        <display
                 value="Cataract-hypertrichosis-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="1377"/>
        <display value="Cataract-microcornea syndrome"/>
      </concept>
      <concept>
        <code value="1380"/>
        <display value="Cataract-nephropathy-encephalopathy syndrome"/>
      </concept>
      <concept>
        <code value="1381"/>
        <display
                 value="Cataract-intellectual disability-anal atresia-urinary defects syndrome"/>
      </concept>
      <concept>
        <code value="1383"/>
        <display value="Cataract-deafness-hypogonadism syndrome"/>
      </concept>
      <concept>
        <code value="1387"/>
        <display
                 value="Cataract-intellectual disability-hypogonadism syndrome"/>
      </concept>
      <concept>
        <code value="1388"/>
        <display value="Catel-Manzke syndrome"/>
      </concept>
      <concept>
        <code value="1389"/>
        <display
                 value="Cortical blindness-intellectual disability-polydactyly syndrome"/>
      </concept>
      <concept>
        <code value="1390"/>
        <display
                 value="Night blindness-skeletal anomalies-dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="1393"/>
        <display value="Cerebrocostomandibular syndrome"/>
      </concept>
      <concept>
        <code value="1394"/>
        <display value="Cerebrofaciothoracic dysplasia"/>
      </concept>
      <concept>
        <code value="1397"/>
        <display value="Hydrocephaly-cerebellar agenesis syndrome"/>
      </concept>
      <concept>
        <code value="1398"/>
        <display value="Isolated cerebellar agenesis"/>
      </concept>
      <concept>
        <code value="1399"/>
        <display value="Richards-Rundle syndrome"/>
      </concept>
      <concept>
        <code value="1401"/>
        <display value="CHAND syndrome"/>
      </concept>
      <concept>
        <code value="1406"/>
        <display value="Charlie M syndrome"/>
      </concept>
      <concept>
        <code value="1410"/>
        <display value="Uncombable hair syndrome"/>
      </concept>
      <concept>
        <code value="1412"/>
        <display value="Tarsal-carpal coalition syndrome"/>
      </concept>
      <concept>
        <code value="1414"/>
        <display value="Cholestasis-lymphedema syndrome"/>
      </concept>
      <concept>
        <code value="1415"/>
        <display value="Hardikar syndrome"/>
      </concept>
      <concept>
        <code value="1416"/>
        <display value="Familial calcium pyrophosphate deposition"/>
      </concept>
      <concept>
        <code value="1422"/>
        <display
                 value="Chondrodysplasia-difference of sex development syndrome"/>
      </concept>
      <concept>
        <code value="1423"/>
        <display value="Lethal recessive chondrodysplasia"/>
      </concept>
      <concept>
        <code value="1425"/>
        <display value="Desbuquois syndrome"/>
      </concept>
      <concept>
        <code value="1426"/>
        <display value="Greenberg dysplasia"/>
      </concept>
      <concept>
        <code value="1427"/>
        <display value="Otospondylomegaepiphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="1429"/>
        <display value="Benign hereditary chorea"/>
      </concept>
      <concept>
        <code value="1433"/>
        <display value="Choroidal atrophy-alopecia syndrome"/>
      </concept>
      <concept>
        <code value="1435"/>
        <display value="Xq21 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="1436"/>
        <display
                 value="X-linked skeletal dysplasia-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="1437"/>
        <display value="Ring chromosome 1 syndrome"/>
      </concept>
      <concept>
        <code value="1438"/>
        <display value="Ring chromosome 10 syndrome"/>
      </concept>
      <concept>
        <code value="1439"/>
        <display value="Ring chromosome 12 syndrome"/>
      </concept>
      <concept>
        <code value="1440"/>
        <display value="Ring chromosome 14 syndrome"/>
      </concept>
      <concept>
        <code value="1441"/>
        <display value="Ring chromosome 17 syndrome"/>
      </concept>
      <concept>
        <code value="1442"/>
        <display value="Ring chromosome 18 syndrome"/>
      </concept>
      <concept>
        <code value="1443"/>
        <display value="Ring chromosome 19 syndrome"/>
      </concept>
      <concept>
        <code value="1444"/>
        <display value="Ring chromosome 20 syndrome"/>
      </concept>
      <concept>
        <code value="1445"/>
        <display value="Ring chromosome 21 syndrome"/>
      </concept>
      <concept>
        <code value="1446"/>
        <display value="Ring chromosome 22 syndrome"/>
      </concept>
      <concept>
        <code value="1447"/>
        <display value="Ring chromosome 4 syndrome"/>
      </concept>
      <concept>
        <code value="1448"/>
        <display value="Ring chromosome 6 syndrome"/>
      </concept>
      <concept>
        <code value="1449"/>
        <display value="Ring chromosome 7 syndrome"/>
      </concept>
      <concept>
        <code value="1450"/>
        <display value="Ring chromosome 8 syndrome"/>
      </concept>
      <concept>
        <code value="1451"/>
        <display value="CINCA syndrome"/>
      </concept>
      <concept>
        <code value="1452"/>
        <display value="Cleidocranial dysplasia"/>
      </concept>
      <concept>
        <code value="1453"/>
        <display value="Cleidorhizomelic syndrome"/>
      </concept>
      <concept>
        <code value="1454"/>
        <display value="Joubert syndrome with hepatic defect"/>
      </concept>
      <concept>
        <code value="1456"/>
        <display value="Middle aortic syndrome"/>
      </concept>
      <concept>
        <code value="1457"/>
        <display value="Aorta coarctation"/>
      </concept>
      <concept>
        <code value="1458"/>
        <display value="CODAS syndrome"/>
      </concept>
      <concept>
        <code value="1459"/>
        <display
                 value="Celiac disease-epilepsy-cerebral calcification syndrome"/>
      </concept>
      <concept>
        <code value="1460"/>
        <display value="Isolated complex III deficiency"/>
      </concept>
      <concept>
        <code value="1461"/>
        <display value="Criss-cross heart"/>
      </concept>
      <concept>
        <code value="1464"/>
        <display value="Univentricular heart"/>
      </concept>
      <concept>
        <code value="1465"/>
        <display value="Coffin-Siris syndrome"/>
      </concept>
      <concept>
        <code value="1466"/>
        <display value="COFS syndrome"/>
      </concept>
      <concept>
        <code value="1467"/>
        <display value="Cogan syndrome"/>
      </concept>
      <concept>
        <code value="1471"/>
        <display value="Coloboma of macula-brachydactyly type B syndrome"/>
      </concept>
      <concept>
        <code value="1473"/>
        <display
                 value="Uveal coloboma-cleft lip and palate-intellectual disability"/>
      </concept>
      <concept>
        <code value="1475"/>
        <display value="Renal coloboma syndrome"/>
      </concept>
      <concept>
        <code value="1478"/>
        <display value="Interatrial communication"/>
      </concept>
      <concept>
        <code value="1479"/>
        <display
                 value="Atrial septal defect-atrioventricular conduction defects syndrome"/>
      </concept>
      <concept>
        <code value="1482"/>
        <display value="Gonococcal conjunctivitis"/>
      </concept>
      <concept>
        <code value="1484"/>
        <display
                 value="Contractures-ectodermal dysplasia-cleft lip/palate syndrome"/>
      </concept>
      <concept>
        <code value="1485"/>
        <display value="Arthrogryposis-hyperkeratosis syndrome, lethal form"/>
      </concept>
      <concept>
        <code value="1486"/>
        <display value="Lethal congenital contracture syndrome type 1"/>
      </concept>
      <concept>
        <code value="1487"/>
        <display value="Cooks syndrome"/>
      </concept>
      <concept>
        <code value="1488"/>
        <display value="Cooper-Jabs syndrome"/>
      </concept>
      <concept>
        <code value="1489"/>
        <display value="Whooping cough"/>
      </concept>
      <concept>
        <code value="1490"/>
        <display value="Corneal dystrophy-perceptive deafness syndrome"/>
      </concept>
      <concept>
        <code value="1493"/>
        <display value="Vici syndrome"/>
      </concept>
      <concept>
        <code value="1495"/>
        <display
                 value="Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome"/>
      </concept>
      <concept>
        <code value="1496"/>
        <display value="Corpus callosum agenesis-neuronopathy syndrome"/>
      </concept>
      <concept>
        <code value="1497"/>
        <display value="X-linked complicated corpus callosum dysgenesis"/>
      </concept>
      <concept>
        <code value="1501"/>
        <display value="Adrenocortical carcinoma"/>
      </concept>
      <concept>
        <code value="1506"/>
        <display value="Thin ribs-tubular bones-dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="1507"/>
        <display value="Autosomal recessive Robinow syndrome"/>
      </concept>
      <concept>
        <code value="1508"/>
        <display value="Coxoauricular syndrome"/>
      </concept>
      <concept>
        <code value="1509"/>
        <display value="Coxopodopatellar syndrome"/>
      </concept>
      <concept>
        <code value="1512"/>
        <display value="Crane-Heise syndrome"/>
      </concept>
      <concept>
        <code value="1513"/>
        <display value="Craniodiaphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="1514"/>
        <display value="Craniodigital-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="1515"/>
        <display value="Cranioectodermal dysplasia"/>
      </concept>
      <concept>
        <code value="1516"/>
        <display
                 value="Non-syndromic bilambdoid and sagittal craniosynostosis"/>
      </concept>
      <concept>
        <code value="1517"/>
        <display value="Cantú syndrome"/>
      </concept>
      <concept>
        <code value="1519"/>
        <display value="SPECC1L-related hypertelorism syndrome"/>
      </concept>
      <concept>
        <code value="1520"/>
        <display value="Craniofrontonasal dysplasia"/>
      </concept>
      <concept>
        <code value="1521"/>
        <display value="Craniofrontonasal dysplasia-Poland anomaly syndrome"/>
      </concept>
      <concept>
        <code value="1522"/>
        <display value="Craniometaphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="1524"/>
        <display value="Craniomicromelic syndrome"/>
      </concept>
      <concept>
        <code value="1525"/>
        <display value="Cranio-osteoarthropathy"/>
      </concept>
      <concept>
        <code value="1527"/>
        <display value="Craniosynostosis, Philadelphia type"/>
      </concept>
      <concept>
        <code value="1528"/>
        <display value="Craniotelencephalic dysplasia"/>
      </concept>
      <concept>
        <code value="1529"/>
        <display value="Craniofacial-deafness-hand syndrome"/>
      </concept>
      <concept>
        <code value="1532"/>
        <display value="Gómez-López-Hernández syndrome"/>
      </concept>
      <concept>
        <code value="1538"/>
        <display
                 value="Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome"/>
      </concept>
      <concept>
        <code value="1540"/>
        <display value="Jackson-Weiss syndrome"/>
      </concept>
      <concept>
        <code value="1541"/>
        <display value="Craniosynostosis, Boston type"/>
      </concept>
      <concept>
        <code value="1544"/>
        <display value="Benign focal seizures of adolescence"/>
      </concept>
      <concept>
        <code value="1545"/>
        <display value="Crisponi syndrome"/>
      </concept>
      <concept>
        <code value="1546"/>
        <display value="Cryptococcosis"/>
      </concept>
      <concept>
        <code value="1547"/>
        <display
                 value="Cryptomicrotia-brachydactyly-excess fingertip arch syndrome"/>
      </concept>
      <concept>
        <code value="1548"/>
        <display
                 value="Cryptorchidism-arachnodactyly-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="1551"/>
        <display value="Familial benign copper deficiency"/>
      </concept>
      <concept>
        <code value="1552"/>
        <display value="Currarino syndrome"/>
      </concept>
      <concept>
        <code value="1553"/>
        <display value="Curry-Jones syndrome"/>
      </concept>
      <concept>
        <code value="1555"/>
        <display
                 value="Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome"/>
      </concept>
      <concept>
        <code value="1556"/>
        <display value="Cutis marmorata telangiectatica congenita"/>
      </concept>
      <concept>
        <code value="1560"/>
        <display value="Cysticercosis"/>
      </concept>
      <concept>
        <code value="1561"/>
        <display value="Fatal infantile cytochrome C oxidase deficiency"/>
      </concept>
      <concept>
        <code value="1563"/>
        <display value="Dahlberg-Borer-Newcomer syndrome"/>
      </concept>
      <concept>
        <code value="1566"/>
        <display
                 value="Dandy-Walker malformation-postaxial polydactyly syndrome"/>
      </concept>
      <concept>
        <code value="1568"/>
        <display
                 value="X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome"/>
      </concept>
      <concept>
        <code value="1570"/>
        <display value="Symbrachydactyly of hands and feet"/>
      </concept>
      <concept>
        <code value="1571"/>
        <display value="Knobloch syndrome"/>
      </concept>
      <concept>
        <code value="1572"/>
        <display value="Common variable immunodeficiency"/>
      </concept>
      <concept>
        <code value="1573"/>
        <display value="Hypotrichosis with juvenile macular degeneration"/>
      </concept>
      <concept>
        <code value="1574"/>
        <display
                 value="Retinal degeneration-nanophthalmos-glaucoma syndrome"/>
      </concept>
      <concept>
        <code value="1578"/>
        <display value="Pterin-4 alpha-carbinolamine dehydratase deficiency"/>
      </concept>
      <concept>
        <code value="1580"/>
        <display value="Distal deletion 10p"/>
      </concept>
      <concept>
        <code value="1581"/>
        <display value="Non-distal deletion 10q"/>
      </concept>
      <concept>
        <code value="1587"/>
        <display value="Monosomy 13q14"/>
      </concept>
      <concept>
        <code value="1590"/>
        <display value="Distal deletion 13q"/>
      </concept>
      <concept>
        <code value="1596"/>
        <display value="Distal deletion 15q"/>
      </concept>
      <concept>
        <code value="1597"/>
        <display value="Distal deletion 17q"/>
      </concept>
      <concept>
        <code value="1598"/>
        <display value="Monosomy 18p"/>
      </concept>
      <concept>
        <code value="1600"/>
        <display value="Monosomy 18q"/>
      </concept>
      <concept>
        <code value="1606"/>
        <display value="1p36 deletion syndrome"/>
      </concept>
      <concept>
        <code value="1617"/>
        <display
                 value="Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion"/>
      </concept>
      <concept>
        <code value="1620"/>
        <display value="Distal deletion 3p"/>
      </concept>
      <concept>
        <code value="1621"/>
        <display value="3q13 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="1627"/>
        <display value="Deletion 5q35"/>
      </concept>
      <concept>
        <code value="1636"/>
        <display value="Distal monosomy 7q36"/>
      </concept>
      <concept>
        <code value="1642"/>
        <display value="Distal deletion 9p"/>
      </concept>
      <concept>
        <code value="1643"/>
        <display value="Xp22.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="1646"/>
        <display value="Chromosome Y microdeletion"/>
      </concept>
      <concept>
        <code value="1647"/>
        <display value="Oculocerebrocutaneous syndrome"/>
      </concept>
      <concept>
        <code value="1652"/>
        <display value="Dent disease"/>
      </concept>
      <concept>
        <code value="1653"/>
        <display value="Dentin dysplasia"/>
      </concept>
      <concept>
        <code value="1655"/>
        <display
                 value="Müllerian derivatives-lymphangiectasia-polydactyly syndrome"/>
      </concept>
      <concept>
        <code value="1656"/>
        <display value="Dermatitis herpetiformis"/>
      </concept>
      <concept>
        <code value="1657"/>
        <display value="Dermatoosteolysis, Kirghizian type"/>
      </concept>
      <concept>
        <code value="1658"/>
        <display value="Absence of fingerprints-congenital milia syndrome"/>
      </concept>
      <concept>
        <code value="1659"/>
        <display value="Dermatoleukodystrophy"/>
      </concept>
      <concept>
        <code value="1660"/>
        <display value="Dermoodontodysplasia"/>
      </concept>
      <concept>
        <code value="1661"/>
        <display value="X-linked corneal dermoid"/>
      </concept>
      <concept>
        <code value="1662"/>
        <display value="Restrictive dermopathy"/>
      </concept>
      <concept>
        <code value="1665"/>
        <display value="Sporadic fetal brain disruption sequence"/>
      </concept>
      <concept>
        <code value="1666"/>
        <display value="Dextrocardia"/>
      </concept>
      <concept>
        <code value="1667"/>
        <display value="Wolcott-Rallison syndrome"/>
      </concept>
      <concept>
        <code value="1670"/>
        <display value="Chronic diarrhea with villous atrophy"/>
      </concept>
      <concept>
        <code value="1671"/>
        <display value="Split cord malformation type I"/>
      </concept>
      <concept>
        <code value="1672"/>
        <display value="Diencephalic syndrome"/>
      </concept>
      <concept>
        <code value="1675"/>
        <display value="Dihydropyrimidine dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="1676"/>
        <display value="Idiopathic pulmonary artery dilatation"/>
      </concept>
      <concept>
        <code value="1677"/>
        <display value="Familial idiopathic dilatation of the right atrium"/>
      </concept>
      <concept>
        <code value="1679"/>
        <display value="Diphtheria"/>
      </concept>
      <concept>
        <code value="1681"/>
        <display value="Diprosopus"/>
      </concept>
      <concept>
        <code value="1682"/>
        <display value="Arterial dissection-lentiginosis syndrome"/>
      </concept>
      <concept>
        <code value="1686"/>
        <display value="Cardiac diverticulum"/>
      </concept>
      <concept>
        <code value="1692"/>
        <display value="Mosaic trisomy 1"/>
      </concept>
      <concept>
        <code value="1695"/>
        <display value="Non-distal duplication 10q"/>
      </concept>
      <concept>
        <code value="1698"/>
        <display value="Mosaic trisomy 12"/>
      </concept>
      <concept>
        <code value="1699"/>
        <display value="Trisomy 12p"/>
      </concept>
      <concept>
        <code value="1702"/>
        <display value="Non-distal duplication 13q"/>
      </concept>
      <concept>
        <code value="1703"/>
        <display value="Mosaic trisomy 14"/>
      </concept>
      <concept>
        <code value="1705"/>
        <display value="Distal duplication 14q"/>
      </concept>
      <concept>
        <code value="1706"/>
        <display value="Mosaic trisomy 15"/>
      </concept>
      <concept>
        <code value="1707"/>
        <display value="Distal duplication 15q"/>
      </concept>
      <concept>
        <code value="1708"/>
        <display value="Mosaic trisomy 16"/>
      </concept>
      <concept>
        <code value="1711"/>
        <display value="Mosaic trisomy 17"/>
      </concept>
      <concept>
        <code value="1713"/>
        <display value="17p11.2 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="1715"/>
        <display value="Trisomy 18p"/>
      </concept>
      <concept>
        <code value="1716"/>
        <display value="Distal duplication 18q"/>
      </concept>
      <concept>
        <code value="1717"/>
        <display value="Distal duplication 19q"/>
      </concept>
      <concept>
        <code value="1723"/>
        <display value="Mosaic trisomy 2"/>
      </concept>
      <concept>
        <code value="1724"/>
        <display value="Mosaic trisomy 20"/>
      </concept>
      <concept>
        <code value="1727"/>
        <display value="22q11.2 duplication syndrome"/>
      </concept>
      <concept>
        <code value="1738"/>
        <display value="Trisomy 4p"/>
      </concept>
      <concept>
        <code value="1742"/>
        <display value="Trisomy 5p"/>
      </concept>
      <concept>
        <code value="1745"/>
        <display value="Distal duplication 6p"/>
      </concept>
      <concept>
        <code value="1747"/>
        <display value="Mosaic trisomy 7"/>
      </concept>
      <concept>
        <code value="1752"/>
        <display value="Trisomy 8q"/>
      </concept>
      <concept>
        <code value="1756"/>
        <display value="Caudal duplication"/>
      </concept>
      <concept>
        <code value="1757"/>
        <display value="Fibular dimelia-diplopodia syndrome"/>
      </concept>
      <concept>
        <code value="1759"/>
        <display value="Thoraco-abdominal enteric duplication"/>
      </concept>
      <concept>
        <code value="1762"/>
        <display value="Proximal Xq28 duplication syndrome"/>
      </concept>
      <concept>
        <code value="1764"/>
        <display value="Familial dysautonomia"/>
      </concept>
      <concept>
        <code value="1766"/>
        <display value="Dysequilibrium syndrome"/>
      </concept>
      <concept>
        <code value="1768"/>
        <display value="Familial caudal dysgenesis"/>
      </concept>
      <concept>
        <code value="1770"/>
        <display
                 value="XY type gonadal dysgenesis-associated anomalies syndrome"/>
      </concept>
      <concept>
        <code value="1772"/>
        <display value="45,X/46,XY mixed gonadal dysgenesis"/>
      </concept>
      <concept>
        <code value="1775"/>
        <display value="Dyskeratosis congenita"/>
      </concept>
      <concept>
        <code value="1777"/>
        <display value="Temtamy syndrome"/>
      </concept>
      <concept>
        <code value="1778"/>
        <display
                 value="Facial dysmorphism-shawl scrotum-joint laxity syndrome"/>
      </concept>
      <concept>
        <code value="1779"/>
        <display value="Dysmorphism-cleft palate-loose skin syndrome"/>
      </concept>
      <concept>
        <code value="1780"/>
        <display value="Thakker-Donnai syndrome"/>
      </concept>
      <concept>
        <code value="1782"/>
        <display value="Dysosteosclerosis"/>
      </concept>
      <concept>
        <code value="1784"/>
        <display value="Acrofrontofacionasal dysostosis"/>
      </concept>
      <concept>
        <code value="1786"/>
        <display value="Acrofacial dysostosis, Catania type"/>
      </concept>
      <concept>
        <code value="1787"/>
        <display value="Acrofacial dysostosis, Palagonia type"/>
      </concept>
      <concept>
        <code value="1788"/>
        <display value="Acrofacial dysostosis, Rodríguez type"/>
      </concept>
      <concept>
        <code value="1790"/>
        <display value="Hypomandibular faciocranial dysostosis"/>
      </concept>
      <concept>
        <code value="1791"/>
        <display value="Frontofacionasal dysplasia"/>
      </concept>
      <concept>
        <code value="1794"/>
        <display value="Oculomaxillofacial dysostosis"/>
      </concept>
      <concept>
        <code value="1797"/>
        <display value="Autosomal dominant spondylocostal dysostosis"/>
      </concept>
      <concept>
        <code value="1798"/>
        <display
                 value="Craniofacial dysostosis-diaphyseal hyperplasia syndrome"/>
      </concept>
      <concept>
        <code value="1799"/>
        <display value="Familial developmental dysphasia"/>
      </concept>
      <concept>
        <code value="1801"/>
        <display value="Kyphomelic dysplasia"/>
      </concept>
      <concept>
        <code value="1802"/>
        <display value="Ghosal hematodiaphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="1803"/>
        <display value="Thoracomelic dysplasia"/>
      </concept>
      <concept>
        <code value="1806"/>
        <display value="Ectodermal dysplasia-blindness syndrome"/>
      </concept>
      <concept>
        <code value="1807"/>
        <display value="Focal facial dermal dysplasia type III"/>
      </concept>
      <concept>
        <code value="1808"/>
        <display
                 value="Hidrotic ectodermal dysplasia, Christianson-Fourie type"/>
      </concept>
      <concept>
        <code value="1809"/>
        <display value="Hidrotic ectodermal dysplasia, Halal type"/>
      </concept>
      <concept>
        <code value="1810"/>
        <display
                 value="Autosomal dominant hypohidrotic ectodermal dysplasia"/>
      </concept>
      <concept>
        <code value="1811"/>
        <display value="Odontomicronychial dysplasia"/>
      </concept>
      <concept>
        <code value="1812"/>
        <display
                 value="Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome"/>
      </concept>
      <concept>
        <code value="1816"/>
        <display
                 value="Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome"/>
      </concept>
      <concept>
        <code value="1818"/>
        <display value="Ectodermal dysplasia, trichoodontoonychial type"/>
      </concept>
      <concept>
        <code value="1822"/>
        <display value="Dysplasia epiphysealis hemimelica"/>
      </concept>
      <concept>
        <code value="1824"/>
        <display value="Lowry-Wood syndrome"/>
      </concept>
      <concept>
        <code value="1825"/>
        <display
                 value="Epiphyseal dysplasia-hearing loss-dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="1826"/>
        <display value="Frontometaphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="1827"/>
        <display value="Acromelic frontonasal dysplasia"/>
      </concept>
      <concept>
        <code value="1830"/>
        <display value="Schimke immuno-osseous dysplasia"/>
      </concept>
      <concept>
        <code value="1832"/>
        <display value="Osteosclerotic bone dysplasia"/>
      </concept>
      <concept>
        <code value="1834"/>
        <display value="Axial mesodermal dysplasia spectrum"/>
      </concept>
      <concept>
        <code value="1836"/>
        <display value="Mesomelic dysplasia, Kantaputra type"/>
      </concept>
      <concept>
        <code value="1837"/>
        <display value="Metaphyseal chondrodysplasia, Rosenberg type"/>
      </concept>
      <concept>
        <code value="1839"/>
        <display value="Hereditary mucoepithelial dysplasia"/>
      </concept>
      <concept>
        <code value="1842"/>
        <display value="Bone dysplasia, lethal Holmgren type"/>
      </concept>
      <concept>
        <code value="1848"/>
        <display value="Renal agenesis, bilateral"/>
      </concept>
      <concept>
        <code value="1851"/>
        <display value="Multicystic dysplastic kidney"/>
      </concept>
      <concept>
        <code value="1852"/>
        <display value="X-linked retinal dysplasia"/>
      </concept>
      <concept>
        <code value="1855"/>
        <display value="Spondyloenchondrodysplasia"/>
      </concept>
      <concept>
        <code value="1856"/>
        <display value="Spondyloperipheral dysplasia-short ulna syndrome"/>
      </concept>
      <concept>
        <code value="1858"/>
        <display value="Skeletal dysplasia-epilepsy-short stature syndrome"/>
      </concept>
      <concept>
        <code value="1860"/>
        <display value="Thanatophoric dysplasia type 1"/>
      </concept>
      <concept>
        <code value="1861"/>
        <display value="Thoracic dysplasia-hydrocephalus syndrome"/>
      </concept>
      <concept>
        <code value="1865"/>
        <display value="Dyssegmental dysplasia, Silverman-Handmaker type"/>
      </concept>
      <concept>
        <code value="1867"/>
        <display value="Hereditary bullous dystrophy, macular type"/>
      </concept>
      <concept>
        <code value="1871"/>
        <display value="Progressive cone dystrophy"/>
      </concept>
      <concept>
        <code value="1872"/>
        <display value="Cone rod dystrophy"/>
      </concept>
      <concept>
        <code value="1873"/>
        <display value="Jalili syndrome"/>
      </concept>
      <concept>
        <code value="1875"/>
        <display
                 value="Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome"/>
      </concept>
      <concept>
        <code value="1876"/>
        <display value="Oculogastrointestinal muscular dystrophy"/>
      </concept>
      <concept>
        <code value="1878"/>
        <display value="TRIM32-related limb-girdle muscular dystrophy R8"/>
      </concept>
      <concept>
        <code value="1879"/>
        <display value="Melorheostosis with osteopoikilosis"/>
      </concept>
      <concept>
        <code value="1880"/>
        <display value="Ebstein malformation of the tricuspid valve"/>
      </concept>
      <concept>
        <code value="1882"/>
        <display
                 value="Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome"/>
      </concept>
      <concept>
        <code value="1883"/>
        <display
                 value="Ectodermal dysplasia-sensorineural deafness syndrome"/>
      </concept>
      <concept>
        <code value="1884"/>
        <display
                 value="Ectopia lentis-chorioretinal dystrophy-myopia syndrome"/>
      </concept>
      <concept>
        <code value="1885"/>
        <display value="Isolated ectopia lentis"/>
      </concept>
      <concept>
        <code value="1891"/>
        <display
                 value="Intellectual disability-spasticity-ectrodactyly syndrome"/>
      </concept>
      <concept>
        <code value="1892"/>
        <display value="Ectrodactyly-polydactyly syndrome"/>
      </concept>
      <concept>
        <code value="1895"/>
        <display value="Edinburgh malformation syndrome"/>
      </concept>
      <concept>
        <code value="1896"/>
        <display value="EEC syndrome"/>
      </concept>
      <concept>
        <code value="1897"/>
        <display value="EEM syndrome"/>
      </concept>
      <concept>
        <code value="1899"/>
        <display value="Arthrochalasia Ehlers-Danlos syndrome"/>
      </concept>
      <concept>
        <code value="1900"/>
        <display
                 value="Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency"/>
      </concept>
      <concept>
        <code value="1901"/>
        <display value="Dermatosparaxis Ehlers-Danlos syndrome"/>
      </concept>
      <concept>
        <code value="1902"/>
        <display value="Ehrlichiosis"/>
      </concept>
      <concept>
        <code value="1906"/>
        <display value="Fetal valproate spectrum disorder"/>
      </concept>
      <concept>
        <code value="1908"/>
        <display value="Aminopterin/methotrexate embryofetopathy"/>
      </concept>
      <concept>
        <code value="1909"/>
        <display value="Indomethacin embryofetopathy"/>
      </concept>
      <concept>
        <code value="1910"/>
        <display value="Fetal iodine syndrome"/>
      </concept>
      <concept>
        <code value="1911"/>
        <display value="Cocaine embryofetopathy"/>
      </concept>
      <concept>
        <code value="1912"/>
        <display value="Fetal hydantoin syndrome"/>
      </concept>
      <concept>
        <code value="1913"/>
        <display value="Fetal trimethadione syndrome"/>
      </concept>
      <concept>
        <code value="1914"/>
        <display value="Vitamin K antagonist embryofetopathy"/>
      </concept>
      <concept>
        <code value="1915"/>
        <display value="Fetal alcohol syndrome"/>
      </concept>
      <concept>
        <code value="1916"/>
        <display value="Diethylstilbestrol syndrome"/>
      </concept>
      <concept>
        <code value="1917"/>
        <display value="Fetal methylmercury syndrome"/>
      </concept>
      <concept>
        <code value="1918"/>
        <display value="Fetal minoxidil syndrome"/>
      </concept>
      <concept>
        <code value="1919"/>
        <display value="Phenobarbital embryopathy"/>
      </concept>
      <concept>
        <code value="1920"/>
        <display value="Toluene embryopathy"/>
      </concept>
      <concept>
        <code value="1923"/>
        <display value="Methimazole embryofetopathy"/>
      </concept>
      <concept>
        <code value="1926"/>
        <display value="Diabetic embryopathy"/>
      </concept>
      <concept>
        <code value="1927"/>
        <display value="Emery-Nelson syndrome"/>
      </concept>
      <concept>
        <code value="1928"/>
        <display value="Congenital lobar emphysema"/>
      </concept>
      <concept>
        <code value="1929"/>
        <display value="Rasmussen subacute encephalitis"/>
      </concept>
      <concept>
        <code value="1930"/>
        <display value="Herpes simplex virus encephalitis"/>
      </concept>
      <concept>
        <code value="1931"/>
        <display value="Frontal encephalocele"/>
      </concept>
      <concept>
        <code value="1933"/>
        <display
                 value="Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"/>
      </concept>
      <concept>
        <code value="1934"/>
        <display value="Early infantile epileptic encephalopathy"/>
      </concept>
      <concept>
        <code value="1935"/>
        <display value="Early myoclonic encephalopathy"/>
      </concept>
      <concept>
        <code value="1937"/>
        <display value="Eng-Strom syndrome"/>
      </concept>
      <concept>
        <code value="1941"/>
        <display value="Juvenile absence epilepsy"/>
      </concept>
      <concept>
        <code value="1942"/>
        <display value="Myoclonic-astatic epilepsy"/>
      </concept>
      <concept>
        <code value="1943"/>
        <display
                 value="Early-onset progressive encephalopathy with migrant continuous myoclonus"/>
      </concept>
      <concept>
        <code value="1945"/>
        <display value="Rolandic epilepsy"/>
      </concept>
      <concept>
        <code value="1946"/>
        <display value="Amelocerebrohypohidrotic syndrome"/>
      </concept>
      <concept>
        <code value="1947"/>
        <display
                 value="Progressive epilepsy-intellectual disability syndrome, Finnish type"/>
      </concept>
      <concept>
        <code value="1948"/>
        <display value="Epilepsy-microcephaly-skeletal dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="1949"/>
        <display value="Benign familial neonatal epilepsy"/>
      </concept>
      <concept>
        <code value="1951"/>
        <display value="Epilepsy-telangiectasia syndrome"/>
      </concept>
      <concept>
        <code value="1952"/>
        <display
                 value="Epiphyseal stippling-osteoclastic hyperplasia syndrome"/>
      </concept>
      <concept>
        <code value="1954"/>
        <display value="Congenital lethal erythroderma"/>
      </concept>
      <concept>
        <code value="1955"/>
        <display value="Spinocerebellar ataxia type 34"/>
      </concept>
      <concept>
        <code value="1957"/>
        <display value="Esthesioneuroblastoma"/>
      </concept>
      <concept>
        <code value="1959"/>
        <display value="Evans syndrome"/>
      </concept>
      <concept>
        <code value="1962"/>
        <display value="Exostoses-anetodermia-brachydactyly type E syndrome"/>
      </concept>
      <concept>
        <code value="1964"/>
        <display
                 value="Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome"/>
      </concept>
      <concept>
        <code value="1968"/>
        <display value="Flat face-microstomia-ear anomaly syndrome"/>
      </concept>
      <concept>
        <code value="1969"/>
        <display
                 value="Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome"/>
      </concept>
      <concept>
        <code value="1970"/>
        <display
                 value="Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome"/>
      </concept>
      <concept>
        <code value="1972"/>
        <display value="Lethal faciocardiomelic dysplasia"/>
      </concept>
      <concept>
        <code value="1973"/>
        <display value="Faciocardiorenal syndrome"/>
      </concept>
      <concept>
        <code value="1974"/>
        <display value="Autosomal recessive faciodigitogenital syndrome"/>
      </concept>
      <concept>
        <code value="1979"/>
        <display
                 value="Lipodystrophy due to peptidic growth factors deficiency"/>
      </concept>
      <concept>
        <code value="1980"/>
        <display value="Bilateral striopallidodentate calcinosis"/>
      </concept>
      <concept>
        <code value="1986"/>
        <display value="Gollop-Wolfgang complex"/>
      </concept>
      <concept>
        <code value="1987"/>
        <display value="Isolated femoral agenesis/hypoplasia"/>
      </concept>
      <concept>
        <code value="1988"/>
        <display value="Femoral-facial syndrome"/>
      </concept>
      <concept>
        <code value="1993"/>
        <display value="Pai syndrome"/>
      </concept>
      <concept>
        <code value="1995"/>
        <display value="Cleft lip-retinopathy syndrome"/>
      </concept>
      <concept>
        <code value="1997"/>
        <display value="Blepharo-cheilo-odontic syndrome"/>
      </concept>
      <concept>
        <code value="2001"/>
        <display
                 value="Cleft lip/palate-intestinal malrotation-cardiopathy syndrome"/>
      </concept>
      <concept>
        <code value="2003"/>
        <display value="Cleft lip/palate-deafness-sacral lipoma syndrome"/>
      </concept>
      <concept>
        <code value="2004"/>
        <display value="Laryngotracheoesophageal cleft"/>
      </concept>
      <concept>
        <code value="2006"/>
        <display value="Median cleft lip/mandible"/>
      </concept>
      <concept>
        <code value="2007"/>
        <display
                 value="Alar cartilages hypoplasia-coloboma-telecanthus syndrome"/>
      </concept>
      <concept>
        <code value="2008"/>
        <display value="Acrocardiofacial syndrome"/>
      </concept>
      <concept>
        <code value="2010"/>
        <display value="Cleft palate-stapes fixation-oligodontia syndrome"/>
      </concept>
      <concept>
        <code value="2013"/>
        <display value="Cleft palate-large ears-small head syndrome"/>
      </concept>
      <concept>
        <code value="2015"/>
        <display
                 value="Cleft palate-short stature-vertebral anomalies syndrome"/>
      </concept>
      <concept>
        <code value="2016"/>
        <display value="Cleft palate-lateral synechia syndrome"/>
      </concept>
      <concept>
        <code value="2017"/>
        <display value="Sternal cleft"/>
      </concept>
      <concept>
        <code value="2019"/>
        <display value="Femur-fibula-ulna complex"/>
      </concept>
      <concept>
        <code value="2020"/>
        <display value="Congenital fiber-type disproportion myopathy"/>
      </concept>
      <concept>
        <code value="2021"/>
        <display value="Fibrochondrogenesis"/>
      </concept>
      <concept>
        <code value="2022"/>
        <display value="Endocardial fibroelastosis"/>
      </concept>
      <concept>
        <code value="2023"/>
        <display value="Undifferentiated pleomorphic sarcoma"/>
      </concept>
      <concept>
        <code value="2024"/>
        <display value="Hereditary gingival fibromatosis"/>
      </concept>
      <concept>
        <code value="2025"/>
        <display value="Gingival fibromatosis-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="2026"/>
        <display value="Gingival fibromatosis-hypertrichosis syndrome"/>
      </concept>
      <concept>
        <code value="2027"/>
        <display value="Gingival fibromatosis-progressive deafness syndrome"/>
      </concept>
      <concept>
        <code value="2028"/>
        <display value="Juvenile hyaline fibromatosis"/>
      </concept>
      <concept>
        <code value="2030"/>
        <display value="Fibrosarcoma"/>
      </concept>
      <concept>
        <code value="2031"/>
        <display
                 value="Hepatic fibrosis-renal cysts-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="2032"/>
        <display value="Idiopathic pulmonary fibrosis"/>
      </concept>
      <concept>
        <code value="2035"/>
        <display value="Lymphatic filariasis"/>
      </concept>
      <concept>
        <code value="2036"/>
        <display value="Scalp-ear-nipple syndrome"/>
      </concept>
      <concept>
        <code value="2037"/>
        <display value="Congenital aortopulmonary window"/>
      </concept>
      <concept>
        <code value="2038"/>
        <display value="Pulmonary arteriovenous malformation"/>
      </concept>
      <concept>
        <code value="2039"/>
        <display value="Congenital systemic arteriovenous fistula"/>
      </concept>
      <concept>
        <code value="2040"/>
        <display value="Congenital respiratory-biliary fistula"/>
      </concept>
      <concept>
        <code value="2041"/>
        <display value="Coronary arterial fistula"/>
      </concept>
      <concept>
        <code value="2044"/>
        <display value="Floating-Harbor syndrome"/>
      </concept>
      <concept>
        <code value="2045"/>
        <display value="FLOTCH syndrome"/>
      </concept>
      <concept>
        <code value="2047"/>
        <display value="Flynn-Aird syndrome"/>
      </concept>
      <concept>
        <code value="2048"/>
        <display value="Foix-Chavany-Marie syndrome"/>
      </concept>
      <concept>
        <code value="2050"/>
        <display value="Cole-Carpenter syndrome"/>
      </concept>
      <concept>
        <code value="2052"/>
        <display value="Fraser syndrome"/>
      </concept>
      <concept>
        <code value="2053"/>
        <display value="Freeman-Sheldon syndrome"/>
      </concept>
      <concept>
        <code value="2056"/>
        <display value="Essential fructosuria"/>
      </concept>
      <concept>
        <code value="2057"/>
        <display
                 value="Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome"/>
      </concept>
      <concept>
        <code value="2058"/>
        <display value="Fryns-Smeets-Thiry syndrome"/>
      </concept>
      <concept>
        <code value="2059"/>
        <display value="Fryns syndrome"/>
      </concept>
      <concept>
        <code value="2062"/>
        <display
                 value="Progressive non-infectious anterior vertebral fusion"/>
      </concept>
      <concept>
        <code value="2063"/>
        <display
                 value="Splenogonadal fusion-limb defects-micrognathia syndrome"/>
      </concept>
      <concept>
        <code value="2064"/>
        <display
                 value="Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome"/>
      </concept>
      <concept>
        <code value="2065"/>
        <display value="Galloway-Mowat syndrome"/>
      </concept>
      <concept>
        <code value="2066"/>
        <display value="Gamma-aminobutyric acid transaminase deficiency"/>
      </concept>
      <concept>
        <code value="2067"/>
        <display value="GAPO syndrome"/>
      </concept>
      <concept>
        <code value="2069"/>
        <display value="Gastrocutaneous syndrome"/>
      </concept>
      <concept>
        <code value="2070"/>
        <display value="Eosinophilic gastroenteritis"/>
      </concept>
      <concept>
        <code value="2072"/>
        <display
                 value="Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"/>
      </concept>
      <concept>
        <code value="2073"/>
        <display value="Narcolepsy type 1"/>
      </concept>
      <concept>
        <code value="2074"/>
        <display value="Gemignani syndrome"/>
      </concept>
      <concept>
        <code value="2075"/>
        <display value="Genitopalatocardiac syndrome"/>
      </concept>
      <concept>
        <code value="2077"/>
        <display value="German syndrome"/>
      </concept>
      <concept>
        <code value="2078"/>
        <display value="Geroderma osteodysplastica"/>
      </concept>
      <concept>
        <code value="2083"/>
        <display
                 value="Prominent glabella-microcephaly-hypogenitalism syndrome"/>
      </concept>
      <concept>
        <code value="2084"/>
        <display
                 value="Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome"/>
      </concept>
      <concept>
        <code value="2085"/>
        <display value="Glaucoma-sleep apnea syndrome"/>
      </concept>
      <concept>
        <code value="2086"/>
        <display value="Optic pathway glioma"/>
      </concept>
      <concept>
        <code value="2088"/>
        <display value="Fanconi-Bickel syndrome"/>
      </concept>
      <concept>
        <code value="2089"/>
        <display
                 value="Glycogen storage disease due to hepatic glycogen synthase deficiency"/>
      </concept>
      <concept>
        <code value="2090"/>
        <display value="GMS syndrome"/>
      </concept>
      <concept>
        <code value="2091"/>
        <display
                 value="Multinodular goiter-cystic kidney-polydactyly syndrome"/>
      </concept>
      <concept>
        <code value="2092"/>
        <display value="Focal dermal hypoplasia"/>
      </concept>
      <concept>
        <code value="2095"/>
        <display value="Gorlin-Chaudhry-Moss syndrome"/>
      </concept>
      <concept>
        <code value="2097"/>
        <display value="Grant syndrome"/>
      </concept>
      <concept>
        <code value="2098"/>
        <display value="Acromesomelic dysplasia, Grebe type"/>
      </concept>
      <concept>
        <code value="2101"/>
        <display value="Grubben-de Cock-Borghgraef syndrome"/>
      </concept>
      <concept>
        <code value="2102"/>
        <display value="GTP cyclohydrolase I deficiency"/>
      </concept>
      <concept>
        <code value="2104"/>
        <display value="Dysmorphism-pectus carinatum-joint laxity syndrome"/>
      </concept>
      <concept>
        <code value="2107"/>
        <display value="Hall-Riggs syndrome"/>
      </concept>
      <concept>
        <code value="2108"/>
        <display value="Hallermann-Streiff syndrome"/>
      </concept>
      <concept>
        <code value="2109"/>
        <display value="Hallermann-Streiff-like syndrome"/>
      </concept>
      <concept>
        <code value="2110"/>
        <display value="Hallux varus-preaxial polysyndactyly syndrome"/>
      </concept>
      <concept>
        <code value="2111"/>
        <display value="Cystic hamartoma of lung and kidney"/>
      </concept>
      <concept>
        <code value="2114"/>
        <display value="Hip dysplasia, Beukes type"/>
      </concept>
      <concept>
        <code value="2115"/>
        <display value="Harrod syndrome"/>
      </concept>
      <concept>
        <code value="2116"/>
        <display value="Hartnup disease"/>
      </concept>
      <concept>
        <code value="2117"/>
        <display value="Hartsfield syndrome"/>
      </concept>
      <concept>
        <code value="2118"/>
        <display value="Hawkinsinuria"/>
      </concept>
      <concept>
        <code value="2119"/>
        <display value="HEC syndrome"/>
      </concept>
      <concept>
        <code value="2122"/>
        <display value="Kaposiform hemangioendothelioma"/>
      </concept>
      <concept>
        <code value="2123"/>
        <display
                 value="Multifocal infantile hemangioma with extracutenous involvement"/>
      </concept>
      <concept>
        <code value="2126"/>
        <display value="Solitary fibrous tumor"/>
      </concept>
      <concept>
        <code value="2128"/>
        <display value="Isolated hemihyperplasia"/>
      </concept>
      <concept>
        <code value="2131"/>
        <display value="Alternating hemiplegia of childhood"/>
      </concept>
      <concept>
        <code value="2132"/>
        <display value="Hemoglobin C disease"/>
      </concept>
      <concept>
        <code value="2133"/>
        <display value="Hemoglobin E disease"/>
      </concept>
      <concept>
        <code value="2134"/>
        <display value="Atypical hemolytic uremic syndrome"/>
      </concept>
      <concept>
        <code value="2135"/>
        <display value="Hennekam-Beemer syndrome"/>
      </concept>
      <concept>
        <code value="2136"/>
        <display value="Hennekam syndrome"/>
      </concept>
      <concept>
        <code value="2137"/>
        <display value="Autoimmune hepatitis"/>
      </concept>
      <concept>
        <code value="2138"/>
        <display value="46,XX ovotesticular difference of sex development"/>
      </concept>
      <concept>
        <code value="2139"/>
        <display value="Hernández-Aguirre Negrete syndrome"/>
      </concept>
      <concept>
        <code value="2140"/>
        <display value="Congenital diaphragmatic hernia"/>
      </concept>
      <concept>
        <code value="2141"/>
        <display
                 value="Diaphragmatic defect-limb deficiency-skull defect syndrome"/>
      </concept>
      <concept>
        <code value="2143"/>
        <display value="Donnai-Barrow syndrome"/>
      </concept>
      <concept>
        <code value="2145"/>
        <display value="Craniosynostosis, Herrmann-Opitz type"/>
      </concept>
      <concept>
        <code value="2148"/>
        <display
                 value="Lissencephaly type 1 due to doublecortin gene mutation"/>
      </concept>
      <concept>
        <code value="2149"/>
        <display value="Nodular neuronal heterotopia"/>
      </concept>
      <concept>
        <code value="2150"/>
        <display value="Hirschsprung disease-type D brachydactyly syndrome"/>
      </concept>
      <concept>
        <code value="2151"/>
        <display value="Hirschsprung disease-ganglioneuroblastoma syndrome"/>
      </concept>
      <concept>
        <code value="2152"/>
        <display value="Mowat-Wilson syndrome"/>
      </concept>
      <concept>
        <code value="2153"/>
        <display
                 value="Hirschsprung disease-nail hypoplasia-dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="2155"/>
        <display value="Hirschsprung disease-deafness-polydactyly syndrome"/>
      </concept>
      <concept>
        <code value="2157"/>
        <display value="Histidinemia"/>
      </concept>
      <concept>
        <code value="2158"/>
        <display value="Histidinuria-renal tubular defect syndrome"/>
      </concept>
      <concept>
        <code value="2162"/>
        <display value="Holoprosencephaly"/>
      </concept>
      <concept>
        <code value="2163"/>
        <display value="Holoprosencephaly-craniosynostosis syndrome"/>
      </concept>
      <concept>
        <code value="2165"/>
        <display value="Holoprosencephaly-caudal dysgenesis syndrome"/>
      </concept>
      <concept>
        <code value="2166"/>
        <display value="Holoprosencephaly-postaxial polydactyly syndrome"/>
      </concept>
      <concept>
        <code value="2167"/>
        <display value="Holzgreve syndrome"/>
      </concept>
      <concept>
        <code value="2169"/>
        <display value="Methylcobalamin deficiency type cblE"/>
      </concept>
      <concept>
        <code value="2170"/>
        <display value="Methylcobalamin deficiency type cblG"/>
      </concept>
      <concept>
        <code value="2172"/>
        <display
                 value="Microcephaly-glomerulonephritis-marfanoid habitus syndrome"/>
      </concept>
      <concept>
        <code value="2176"/>
        <display value="Infantile systemic hyalinosis"/>
      </concept>
      <concept>
        <code value="2177"/>
        <display value="Hydranencephaly"/>
      </concept>
      <concept>
        <code value="2180"/>
        <display
                 value="Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome"/>
      </concept>
      <concept>
        <code value="2181"/>
        <display value="Hydrocephaly-tall stature-joint laxity syndrome"/>
      </concept>
      <concept>
        <code value="2182"/>
        <display
                 value="Hydrocephalus with stenosis of the aqueduct of Sylvius"/>
      </concept>
      <concept>
        <code value="2183"/>
        <display value="Hydrocephalus-obesity-hypogonadism syndrome"/>
      </concept>
      <concept>
        <code value="2184"/>
        <display value="Hydrocephaly-low insertion umbilicus syndrome"/>
      </concept>
      <concept>
        <code value="2185"/>
        <display value="Congenital hydrocephalus"/>
      </concept>
      <concept>
        <code value="2186"/>
        <display value="Hydrocephalus-blue sclerae-nephropathy syndrome"/>
      </concept>
      <concept>
        <code value="2189"/>
        <display value="Hydrolethalus"/>
      </concept>
      <concept>
        <code value="2195"/>
        <display value="Dicarboxylic aminoaciduria"/>
      </concept>
      <concept>
        <code value="2196"/>
        <display
                 value="Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement"/>
      </concept>
      <concept>
        <code value="2197"/>
        <display value="Idiopathic hypercalciuria"/>
      </concept>
      <concept>
        <code value="2198"/>
        <display
                 value="Palmoplantar keratoderma-esophageal carcinoma syndrome"/>
      </concept>
      <concept>
        <code value="2199"/>
        <display value="Epidermolytic palmoplantar keratoderma"/>
      </concept>
      <concept>
        <code value="2200"/>
        <display value="Focal palmoplantar and gingival keratoderma"/>
      </concept>
      <concept>
        <code value="2201"/>
        <display value="Palmoplantar keratoderma-spastic paralysis syndrome"/>
      </concept>
      <concept>
        <code value="2202"/>
        <display value="Palmoplantar keratoderma-deafness syndrome"/>
      </concept>
      <concept>
        <code value="2203"/>
        <display value="Hyperlysinemia"/>
      </concept>
      <concept>
        <code value="2204"/>
        <display
                 value="Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type"/>
      </concept>
      <concept>
        <code value="2206"/>
        <display value="Ankylosing vertebral hyperostosis with tylosis"/>
      </concept>
      <concept>
        <code value="2209"/>
        <display value="Maternal phenylketonuria"/>
      </concept>
      <concept>
        <code value="2211"/>
        <display value="Hypertelorism-hypospadias-polysyndactyly syndrome"/>
      </concept>
      <concept>
        <code value="2213"/>
        <display value="Hypertelorism-microtia-facial clefting syndrome"/>
      </concept>
      <concept>
        <code value="2215"/>
        <display value="Multiple pterygium-malignant hyperthermia syndrome"/>
      </concept>
      <concept>
        <code value="2216"/>
        <display value="Maternal hyperthermia-induced birth defects"/>
      </concept>
      <concept>
        <code value="2218"/>
        <display
                 value="Cervical hypertrichosis-peripheral neuropathy syndrome"/>
      </concept>
      <concept>
        <code value="2220"/>
        <display value="Hypertrichosis cubiti"/>
      </concept>
      <concept>
        <code value="2221"/>
        <display value="Acquired hypertrichosis lanuginosa"/>
      </concept>
      <concept>
        <code value="2222"/>
        <display value="Hypertrichosis lanuginosa congenita"/>
      </concept>
      <concept>
        <code value="2224"/>
        <display value="Hypertryptophanemia"/>
      </concept>
      <concept>
        <code value="2228"/>
        <display value="Hypodontia-dysplasia of nails syndrome"/>
      </concept>
      <concept>
        <code value="2229"/>
        <display
                 value="Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome"/>
      </concept>
      <concept>
        <code value="2230"/>
        <display
                 value="Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome"/>
      </concept>
      <concept>
        <code value="2232"/>
        <display
                 value="Primary hypergonadotropic hypogonadism-partial alopecia syndrome"/>
      </concept>
      <concept>
        <code value="2233"/>
        <display
                 value="Hypogonadism-mitral valve prolapse-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="2234"/>
        <display
                 value="Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome"/>
      </concept>
      <concept>
        <code value="2235"/>
        <display
                 value="Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome"/>
      </concept>
      <concept>
        <code value="2237"/>
        <display
                 value="Hypoparathyroidism-sensorineural deafness-renal disease syndrome"/>
      </concept>
      <concept>
        <code value="2238"/>
        <display value="Familial isolated hypoparathyroidism"/>
      </concept>
      <concept>
        <code value="2239"/>
        <display
                 value="Familial isolated hypoparathyroidism due to agenesis of parathyroid gland"/>
      </concept>
      <concept>
        <code value="2241"/>
        <display
                 value="Megacystis-microcolon-intestinal hypoperistalsis syndrome"/>
      </concept>
      <concept>
        <code value="2246"/>
        <display
                 value="Cerebellar hypoplasia-tapetoretinal degeneration syndrome"/>
      </concept>
      <concept>
        <code value="2248"/>
        <display value="Hypoplastic left heart syndrome"/>
      </concept>
      <concept>
        <code value="2249"/>
        <display value="Ulna hypoplasia-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="2250"/>
        <display
                 value="Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome"/>
      </concept>
      <concept>
        <code value="2251"/>
        <display
                 value="Thumb deformity-alopecia-pigmentation anomaly syndrome"/>
      </concept>
      <concept>
        <code value="2252"/>
        <display
                 value="Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome"/>
      </concept>
      <concept>
        <code value="2253"/>
        <display value="Foveal hypoplasia-presenile cataract syndrome"/>
      </concept>
      <concept>
        <code value="2254"/>
        <display value="Pontocerebellar hypoplasia type 1"/>
      </concept>
      <concept>
        <code value="2255"/>
        <display
                 value="Pancreatic hypoplasia-diabetes-congenital heart disease syndrome"/>
      </concept>
      <concept>
        <code value="2256"/>
        <display value="Fibulo-ulnar hypoplasia-renal anomalies syndrome"/>
      </concept>
      <concept>
        <code value="2257"/>
        <display value="Primary pulmonary hypoplasia"/>
      </concept>
      <concept>
        <code value="2260"/>
        <display value="Oligomeganephronia"/>
      </concept>
      <concept>
        <code value="2261"/>
        <display
                 value="Hypospadias-intellectual disability, Goldblatt type syndrome"/>
      </concept>
      <concept>
        <code value="2266"/>
        <display value="Hypotrichosis-intellectual disability, Lopes type"/>
      </concept>
      <concept>
        <code value="2268"/>
        <display value="ICF syndrome"/>
      </concept>
      <concept>
        <code value="2269"/>
        <display
                 value="Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="2271"/>
        <display
                 value="Congenital ichthyosis-microcephalus-tetraplegia syndrome"/>
      </concept>
      <concept>
        <code value="2272"/>
        <display value="Ichthyosis-oral and digital anomalies syndrome"/>
      </concept>
      <concept>
        <code value="2273"/>
        <display
                 value="Ichthyosis follicularis-alopecia-photophobia syndrome"/>
      </concept>
      <concept>
        <code value="2274"/>
        <display
                 value="Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome"/>
      </concept>
      <concept>
        <code value="2278"/>
        <display
                 value="Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome"/>
      </concept>
      <concept>
        <code value="2282"/>
        <display
                 value="Dysmorphism-short stature-deafness-difference of sex development syndrome"/>
      </concept>
      <concept>
        <code value="2285"/>
        <display value="Primary basilar invagination"/>
      </concept>
      <concept>
        <code value="2287"/>
        <display value="Fused mandibular incisors"/>
      </concept>
      <concept>
        <code value="2289"/>
        <display value="Neuronal intranuclear inclusion disease"/>
      </concept>
      <concept>
        <code value="2290"/>
        <display value="Microvillus inclusion disease"/>
      </concept>
      <concept>
        <code value="2291"/>
        <display value="Congenital velopharyngeal incompetence"/>
      </concept>
      <concept>
        <code value="2295"/>
        <display value="Familial articular hypermobility syndrome"/>
      </concept>
      <concept>
        <code value="2297"/>
        <display value="Insulin-resistance syndrome type A"/>
      </concept>
      <concept>
        <code value="2298"/>
        <display value="Insulin-resistance syndrome type B"/>
      </concept>
      <concept>
        <code value="2299"/>
        <display value="Aortic arch interruption"/>
      </concept>
      <concept>
        <code value="2300"/>
        <display value="Multiple intestinal atresia"/>
      </concept>
      <concept>
        <code value="2301"/>
        <display value="Congenital short bowel syndrome"/>
      </concept>
      <concept>
        <code value="2302"/>
        <display value="Asbestos intoxication"/>
      </concept>
      <concept>
        <code value="2305"/>
        <display value="Isotretinoin syndrome"/>
      </concept>
      <concept>
        <code value="2306"/>
        <display value="Isotretinoin-like syndrome"/>
      </concept>
      <concept>
        <code value="2307"/>
        <display value="IVIC syndrome"/>
      </concept>
      <concept>
        <code value="2308"/>
        <display value="Jacobsen syndrome"/>
      </concept>
      <concept>
        <code value="2309"/>
        <display value="Pachyonychia congenita"/>
      </concept>
      <concept>
        <code value="2310"/>
        <display value="Absence deformity of leg-cataract syndrome"/>
      </concept>
      <concept>
        <code value="2311"/>
        <display value="Autosomal recessive spondylocostal dysostosis"/>
      </concept>
      <concept>
        <code value="2312"/>
        <display value="Transient familial neonatal hyperbilirubinemia"/>
      </concept>
      <concept>
        <code value="2314"/>
        <display
                 value="Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency"/>
      </concept>
      <concept>
        <code value="2315"/>
        <display value="Johanson-Blizzard syndrome"/>
      </concept>
      <concept>
        <code value="2316"/>
        <display value="Johnson neuroectodermal syndrome"/>
      </concept>
      <concept>
        <code value="2318"/>
        <display value="Joubert syndrome with oculorenal defect"/>
      </concept>
      <concept>
        <code value="2319"/>
        <display value="Juberg-Hayward syndrome"/>
      </concept>
      <concept>
        <code value="2321"/>
        <display value="Jung syndrome"/>
      </concept>
      <concept>
        <code value="2322"/>
        <display value="Kabuki syndrome"/>
      </concept>
      <concept>
        <code value="2323"/>
        <display value="Sanjad-Sakati syndrome"/>
      </concept>
      <concept>
        <code value="2324"/>
        <display
                 value="Osteopenia-intellectual disability-sparse hair syndrome"/>
      </concept>
      <concept>
        <code value="2325"/>
        <display
                 value="Epidermolysis bullosa simplex with anodontia/hypodontia"/>
      </concept>
      <concept>
        <code value="2326"/>
        <display value="Kallmann syndrome-heart disease syndrome"/>
      </concept>
      <concept>
        <code value="2328"/>
        <display value="Kapur-Toriello syndrome"/>
      </concept>
      <concept>
        <code value="2329"/>
        <display value="Karsch-Neugebauer syndrome"/>
      </concept>
      <concept>
        <code value="2330"/>
        <display value="Kasabach-Merritt phenomenon"/>
      </concept>
      <concept>
        <code value="2331"/>
        <display value="Kawasaki disease"/>
      </concept>
      <concept>
        <code value="2332"/>
        <display value="KBG syndrome"/>
      </concept>
      <concept>
        <code value="2333"/>
        <display value="Kenny-Caffey syndrome"/>
      </concept>
      <concept>
        <code value="2334"/>
        <display value="Autosomal dominant keratitis"/>
      </concept>
      <concept>
        <code value="2337"/>
        <display value="Diffuse palmoplantar keratoderma, Bothnian type"/>
      </concept>
      <concept>
        <code value="2339"/>
        <display
                 value="Keratosis follicularis-dwarfism-cerebral atrophy syndrome"/>
      </concept>
      <concept>
        <code value="2340"/>
        <display value="Keratosis follicularis spinulosa decalvans"/>
      </concept>
      <concept>
        <code value="2342"/>
        <display value="Haim-Munk syndrome"/>
      </concept>
      <concept>
        <code value="2345"/>
        <display value="Isolated Klippel-Feil syndrome"/>
      </concept>
      <concept>
        <code value="2347"/>
        <display value="Lethal Kniest-like dysplasia"/>
      </concept>
      <concept>
        <code value="2348"/>
        <display value="Familial partial lipodystrophy, Dunnigan type"/>
      </concept>
      <concept>
        <code value="2349"/>
        <display value="Muscular pseudohypertrophy-hypothyroidism syndrome"/>
      </concept>
      <concept>
        <code value="2351"/>
        <display value="Kousseff syndrome"/>
      </concept>
      <concept>
        <code value="2353"/>
        <display value="Schilbach-Rott syndrome"/>
      </concept>
      <concept>
        <code value="2356"/>
        <display value="Arachnoid cyst"/>
      </concept>
      <concept>
        <code value="2357"/>
        <display value="Bronchogenic cyst"/>
      </concept>
      <concept>
        <code value="2363"/>
        <display value="Lacrimoauriculodentodigital syndrome"/>
      </concept>
      <concept>
        <code value="2364"/>
        <display
                 value="Glycogen storage disease due to lactate dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="2368"/>
        <display value="Gastroschisis"/>
      </concept>
      <concept>
        <code value="2369"/>
        <display value="Limb body wall complex"/>
      </concept>
      <concept>
        <code value="2370"/>
        <display
                 value="Larsen-like osseous dysplasia-short stature syndrome"/>
      </concept>
      <concept>
        <code value="2371"/>
        <display value="Lethal Larsen-like syndrome"/>
      </concept>
      <concept>
        <code value="2372"/>
        <display value="Laryngocele"/>
      </concept>
      <concept>
        <code value="2373"/>
        <display value="Congenital laryngomalacia"/>
      </concept>
      <concept>
        <code value="2374"/>
        <display value="Isolated congenital laryngeal web"/>
      </concept>
      <concept>
        <code value="2375"/>
        <display
                 value="Laryngeal abductor paralysis-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="2377"/>
        <display value="Laurence-Moon syndrome"/>
      </concept>
      <concept>
        <code value="2378"/>
        <display value="Laurin-Sandrow syndrome"/>
      </concept>
      <concept>
        <code value="2379"/>
        <display
                 value="Early-onset parkinsonism-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="2380"/>
        <display value="Legg-Calvé-Perthes disease"/>
      </concept>
      <concept>
        <code value="2382"/>
        <display value="Lennox-Gastaut syndrome"/>
      </concept>
      <concept>
        <code value="2386"/>
        <display
                 value="Leukoencephalopathy-palmoplantar keratoderma syndrome"/>
      </concept>
      <concept>
        <code value="2387"/>
        <display value="Leukonychia totalis"/>
      </concept>
      <concept>
        <code value="2388"/>
        <display value="Choreoacanthocytosis"/>
      </concept>
      <concept>
        <code value="2390"/>
        <display value="Lichtenstein syndrome"/>
      </concept>
      <concept>
        <code value="2391"/>
        <display value="Congenitally short costocoracoid ligament"/>
      </concept>
      <concept>
        <code value="2394"/>
        <display value="Pyruvate dehydrogenase E3 deficiency"/>
      </concept>
      <concept>
        <code value="2396"/>
        <display value="Encephalocraniocutaneous lipomatosis"/>
      </concept>
      <concept>
        <code value="2398"/>
        <display value="Multiple symmetric lipomatosis"/>
      </concept>
      <concept>
        <code value="2399"/>
        <display value="Nasopalpebral lipoma-coloboma syndrome"/>
      </concept>
      <concept>
        <code value="2400"/>
        <display value="Peripheral motor neuropathy-dysautonomia syndrome"/>
      </concept>
      <concept>
        <code value="2404"/>
        <display value="Loiasis"/>
      </concept>
      <concept>
        <code value="2405"/>
        <display value="Thickened earlobes-conductive deafness syndrome"/>
      </concept>
      <concept>
        <code value="2406"/>
        <display value="Locked-in syndrome"/>
      </concept>
      <concept>
        <code value="2407"/>
        <display value="Laryngo-onycho-cutaneous syndrome"/>
      </concept>
      <concept>
        <code value="2408"/>
        <display value="Lowe-Kohn-Cohen syndrome"/>
      </concept>
      <concept>
        <code value="2409"/>
        <display value="Lowry-MacLean syndrome"/>
      </concept>
      <concept>
        <code value="2410"/>
        <display value="Hypergonadotropic hypogonadism-cataract syndrome"/>
      </concept>
      <concept>
        <code value="2412"/>
        <display value="Dislocation of the hip-dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="2414"/>
        <display value="Congenital pulmonary lymphangiectasia"/>
      </concept>
      <concept>
        <code value="2420"/>
        <display value="Primary pulmonary lymphoma"/>
      </concept>
      <concept>
        <code value="2427"/>
        <display value="Macrocephaly-short stature-paraplegia syndrome"/>
      </concept>
      <concept>
        <code value="2429"/>
        <display
                 value="Macrocephaly-spastic paraplegia-dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="2430"/>
        <display value="Congenital macroglossia"/>
      </concept>
      <concept>
        <code value="2432"/>
        <display value="Macrosomia-microphthalmia-cleft palate syndrome"/>
      </concept>
      <concept>
        <code value="2435"/>
        <display
                 value="Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="2437"/>
        <display value="Czeizel-Losonci syndrome"/>
      </concept>
      <concept>
        <code value="2438"/>
        <display value="Hand-foot-genital syndrome"/>
      </concept>
      <concept>
        <code value="2439"/>
        <display value="Patterson-Stevenson-Fontaine syndrome"/>
      </concept>
      <concept>
        <code value="2440"/>
        <display value="Isolated split hand-split foot malformation"/>
      </concept>
      <concept>
        <code value="2444"/>
        <display value="Congenital pulmonary airway malformation"/>
      </concept>
      <concept>
        <code value="2451"/>
        <display value="Mucocutaneous venous malformations"/>
      </concept>
      <concept>
        <code value="2456"/>
        <display value="Familial supernumerary nipples"/>
      </concept>
      <concept>
        <code value="2457"/>
        <display value="Mandibuloacral dysplasia"/>
      </concept>
      <concept>
        <code value="2459"/>
        <display value="Mansonelliasis"/>
      </concept>
      <concept>
        <code value="2460"/>
        <display value="Van den Ende-Gupta syndrome"/>
      </concept>
      <concept>
        <code value="2461"/>
        <display value="Marden-Walker syndrome"/>
      </concept>
      <concept>
        <code value="2462"/>
        <display value="Shprintzen-Goldberg syndrome"/>
      </concept>
      <concept>
        <code value="2463"/>
        <display
                 value="Marfanoid habitus-autosomal recessive intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="2464"/>
        <display value="Marfanoid syndrome, De Silva type"/>
      </concept>
      <concept>
        <code value="2466"/>
        <display value="MASA syndrome"/>
      </concept>
      <concept>
        <code value="2470"/>
        <display value="Matthew-Wood syndrome"/>
      </concept>
      <concept>
        <code value="2471"/>
        <display value="McDonough syndrome"/>
      </concept>
      <concept>
        <code value="2473"/>
        <display value="McKusick-Kaufman syndrome"/>
      </concept>
      <concept>
        <code value="2475"/>
        <display value="White forelock with malformations"/>
      </concept>
      <concept>
        <code value="2476"/>
        <display
                 value="Dysraphism-cleft lip/palate-limb reduction defects syndrome"/>
      </concept>
      <concept>
        <code value="2477"/>
        <display value="Megalencephaly"/>
      </concept>
      <concept>
        <code value="2478"/>
        <display
                 value="Megalencephalic leukoencephalopathy with subcortical cysts"/>
      </concept>
      <concept>
        <code value="2479"/>
        <display value="Megalocornea-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="2481"/>
        <display value="Neurocutaneous melanocytosis"/>
      </concept>
      <concept>
        <code value="2482"/>
        <display value="Melhem-Fahl syndrome"/>
      </concept>
      <concept>
        <code value="2483"/>
        <display value="Melkersson-Rosenthal syndrome"/>
      </concept>
      <concept>
        <code value="2484"/>
        <display value="Melnick-Needles syndrome"/>
      </concept>
      <concept>
        <code value="2485"/>
        <display value="Melorheostosis"/>
      </concept>
      <concept>
        <code value="2487"/>
        <display value="Lower limb malformation-hypospadias syndrome"/>
      </concept>
      <concept>
        <code value="2489"/>
        <display
                 value="Upper limb defect-eye and ear abnormalities syndrome"/>
      </concept>
      <concept>
        <code value="2491"/>
        <display value="Müllerian duct anomalies-limb anomalies syndrome"/>
      </concept>
      <concept>
        <code value="2492"/>
        <display value="FATCO syndrome"/>
      </concept>
      <concept>
        <code value="2494"/>
        <display value="Ménétrier disease"/>
      </concept>
      <concept>
        <code value="2495"/>
        <display value="Meningioma"/>
      </concept>
      <concept>
        <code value="2496"/>
        <display value="Mesomelia-synostoses syndrome"/>
      </concept>
      <concept>
        <code value="2497"/>
        <display value="Upper limb mesomelic dysplasia, type Fryns"/>
      </concept>
      <concept>
        <code value="2498"/>
        <display value="Syndactyly type 8"/>
      </concept>
      <concept>
        <code value="2499"/>
        <display value="Metachondromatosis"/>
      </concept>
      <concept>
        <code value="2500"/>
        <display value="Acrogeria"/>
      </concept>
      <concept>
        <code value="2501"/>
        <display value="Metaphyseal chondrodysplasia, Spahr type"/>
      </concept>
      <concept>
        <code value="2502"/>
        <display
                 value="Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome"/>
      </concept>
      <concept>
        <code value="2504"/>
        <display
                 value="Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"/>
      </concept>
      <concept>
        <code value="2505"/>
        <display
                 value="Multiple benign circumferential skin creases on limbs"/>
      </concept>
      <concept>
        <code value="2508"/>
        <display
                 value="Corpus callosum agenesis-abnormal genitalia syndrome"/>
      </concept>
      <concept>
        <code value="2510"/>
        <display value="Micro syndrome"/>
      </concept>
      <concept>
        <code value="2511"/>
        <display value="Microbrachycephaly-ptosis-cleft lip syndrome"/>
      </concept>
      <concept>
        <code value="2512"/>
        <display value="Autosomal recessive primary microcephaly"/>
      </concept>
      <concept>
        <code value="2513"/>
        <display value="Microcephaly-albinism-digital anomalies syndrome"/>
      </concept>
      <concept>
        <code value="2514"/>
        <display value="Autosomal dominant primary microcephaly"/>
      </concept>
      <concept>
        <code value="2515"/>
        <display value="Microcephaly-cardiomyopathy syndrome"/>
      </concept>
      <concept>
        <code value="2516"/>
        <display
                 value="Microcephaly-cardiac defect-lung malsegmentation syndrome"/>
      </concept>
      <concept>
        <code value="2518"/>
        <display
                 value="Autosomal recessive chorioretinopathy-microcephaly syndrome"/>
      </concept>
      <concept>
        <code value="2519"/>
        <display
                 value="Microcephaly-seizures-intellectual disability-heart disease syndrome"/>
      </concept>
      <concept>
        <code value="2521"/>
        <display
                 value="Microcephaly-cleft palate-abnormal retinal pigmentation syndrome"/>
      </concept>
      <concept>
        <code value="2522"/>
        <display
                 value="Microcephaly-cervical spine fusion anomalies syndrome"/>
      </concept>
      <concept>
        <code value="2523"/>
        <display
                 value="Microcephaly-brain defect-spasticity-hypernatremia syndrome"/>
      </concept>
      <concept>
        <code value="2524"/>
        <display value="Pontocerebellar hypoplasia type 2"/>
      </concept>
      <concept>
        <code value="2526"/>
        <display value="Microcephaly-lymphedema-chorioretinopathy syndrome"/>
      </concept>
      <concept>
        <code value="2528"/>
        <display value="Microcephaly-microcornea syndrome, Seemanova type"/>
      </concept>
      <concept>
        <code value="2533"/>
        <display
                 value="Microcephaly-deafness-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="2536"/>
        <display
                 value="Microcornea-glaucoma-absent frontal sinuses syndrome"/>
      </concept>
      <concept>
        <code value="2538"/>
        <display value="Microgastria-limb reduction defect syndrome"/>
      </concept>
      <concept>
        <code value="2547"/>
        <display value="Microphthalmia-microtia-fetal akinesia syndrome"/>
      </concept>
      <concept>
        <code value="2549"/>
        <display value="Oculoauriculovertebral spectrum with radial defects"/>
      </concept>
      <concept>
        <code value="2551"/>
        <display value="Microspherophakia-metaphyseal dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="2552"/>
        <display value="Microsporidiosis"/>
      </concept>
      <concept>
        <code value="2554"/>
        <display value="Ear-patella-short stature syndrome"/>
      </concept>
      <concept>
        <code value="2556"/>
        <display value="Microphthalmia with linear skin defects syndrome"/>
      </concept>
      <concept>
        <code value="2557"/>
        <display value="Mietens syndrome"/>
      </concept>
      <concept>
        <code value="2558"/>
        <display value="Mikati-Najjar-Sahli syndrome"/>
      </concept>
      <concept>
        <code value="2560"/>
        <display
                 value="Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome"/>
      </concept>
      <concept>
        <code value="2561"/>
        <display value="Pyramidal molars-abnormal upper lip syndrome"/>
      </concept>
      <concept>
        <code value="2563"/>
        <display value="MOMO syndrome"/>
      </concept>
      <concept>
        <code value="2564"/>
        <display value="Tetramelic monodactyly"/>
      </concept>
      <concept>
        <code value="2565"/>
        <display value="Mononen-Karnes-Senac syndrome"/>
      </concept>
      <concept>
        <code value="2566"/>
        <display value="Chronic Epstein-Barr virus infection syndrome"/>
      </concept>
      <concept>
        <code value="2570"/>
        <display
                 value="Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome"/>
      </concept>
      <concept>
        <code value="2571"/>
        <display value="X-linked immunoneurologic disorder"/>
      </concept>
      <concept>
        <code value="2572"/>
        <display value="Spastic ataxia-corneal dystrophy syndrome"/>
      </concept>
      <concept>
        <code value="2573"/>
        <display value="Moyamoya disease"/>
      </concept>
      <concept>
        <code value="2574"/>
        <display value="Moynahan syndrome"/>
      </concept>
      <concept>
        <code value="2575"/>
        <display
                 value="Cystic fibrosis-gastritis-megaloblastic anemia syndrome"/>
      </concept>
      <concept>
        <code value="2576"/>
        <display value="Mulibrey nanism"/>
      </concept>
      <concept>
        <code value="2578"/>
        <display value="Mayer-Rokitansky-Küster-Hauser syndrome type 2"/>
      </concept>
      <concept>
        <code value="2579"/>
        <display
                 value="Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome"/>
      </concept>
      <concept>
        <code value="2582"/>
        <display
                 value="Myalgia-eosinophilia syndrome associated with tryptophan"/>
      </concept>
      <concept>
        <code value="2583"/>
        <display value="Mycetoma"/>
      </concept>
      <concept>
        <code value="2584"/>
        <display value="Classic mycosis fungoides"/>
      </concept>
      <concept>
        <code value="2585"/>
        <display value="Ataxia-pancytopenia syndrome"/>
      </concept>
      <concept>
        <code value="2587"/>
        <display value="Myeloperoxidase deficiency"/>
      </concept>
      <concept>
        <code value="2588"/>
        <display value="Myhre syndrome"/>
      </concept>
      <concept>
        <code value="2589"/>
        <display value="Myoclonus-cerebellar ataxia-deafness syndrome"/>
      </concept>
      <concept>
        <code value="2590"/>
        <display
                 value="Spinal muscular atrophy-progressive myoclonic epilepsy syndrome"/>
      </concept>
      <concept>
        <code value="2591"/>
        <display value="Infantile myofibromatosis"/>
      </concept>
      <concept>
        <code value="2593"/>
        <display value="Tubular aggregate myopathy"/>
      </concept>
      <concept>
        <code value="2596"/>
        <display value="Myopathy and diabetes mellitus"/>
      </concept>
      <concept>
        <code value="2597"/>
        <display
                 value="Mitochondrial myopathy-lactic acidosis-deafness syndrome"/>
      </concept>
      <concept>
        <code value="2598"/>
        <display value="Mitochondrial myopathy and sideroblastic anemia"/>
      </concept>
      <concept>
        <code value="2604"/>
        <display value="Familial visceral myopathy"/>
      </concept>
      <concept>
        <code value="2608"/>
        <display value="N syndrome"/>
      </concept>
      <concept>
        <code value="2609"/>
        <display value="Isolated complex I deficiency"/>
      </concept>
      <concept>
        <code value="2611"/>
        <display value="Linear verrucous nevus syndrome"/>
      </concept>
      <concept>
        <code value="2612"/>
        <display value="Linear nevus sebaceus syndrome"/>
      </concept>
      <concept>
        <code value="2613"/>
        <display value="Nail-patella-like renal disease"/>
      </concept>
      <concept>
        <code value="2614"/>
        <display value="Nail-patella syndrome"/>
      </concept>
      <concept>
        <code value="2616"/>
        <display value="3M syndrome"/>
      </concept>
      <concept>
        <code value="2617"/>
        <display value="Microcephalic primordial dwarfism, Montreal type"/>
      </concept>
      <concept>
        <code value="2619"/>
        <display value="Brachydactylous dwarfism, Mseleni type"/>
      </concept>
      <concept>
        <code value="2623"/>
        <display value="Geleophysic dysplasia"/>
      </concept>
      <concept>
        <code value="2631"/>
        <display
                 value="Mesomelic dwarfism-cleft palate-camptodactyly syndrome"/>
      </concept>
      <concept>
        <code value="2632"/>
        <display value="Langer mesomelic dysplasia"/>
      </concept>
      <concept>
        <code value="2633"/>
        <display value="Mesomelic dysplasia, Nievergelt type"/>
      </concept>
      <concept>
        <code value="2634"/>
        <display value="Mesomelic dwarfism, Reinhardt-Pfeiffer type"/>
      </concept>
      <concept>
        <code value="2635"/>
        <display value="Metatropic dysplasia"/>
      </concept>
      <concept>
        <code value="2636"/>
        <display
                 value="Microcephalic osteodysplastic primordial dwarfism types I and III"/>
      </concept>
      <concept>
        <code value="2637"/>
        <display
                 value="Microcephalic osteodysplastic primordial dwarfism type II"/>
      </concept>
      <concept>
        <code value="2639"/>
        <display value="Fibular aplasia-complex brachydactyly syndrome"/>
      </concept>
      <concept>
        <code value="2643"/>
        <display value="Microcephalic primordial dwarfism, Toriello type"/>
      </concept>
      <concept>
        <code value="2645"/>
        <display value="Osteoglosphonic dysplasia"/>
      </concept>
      <concept>
        <code value="2655"/>
        <display value="Thanatophoric dysplasia"/>
      </concept>
      <concept>
        <code value="2658"/>
        <display value="Lenz-Majewski hyperostotic dwarfism"/>
      </concept>
      <concept>
        <code value="2662"/>
        <display value="Keipert syndrome"/>
      </concept>
      <concept>
        <code value="2663"/>
        <display value="Nathalie syndrome"/>
      </concept>
      <concept>
        <code value="2665"/>
        <display value="Congenital mesoblastic nephroma"/>
      </concept>
      <concept>
        <code value="2666"/>
        <display
                 value="Adult familial nephronophthisis-spastic quadriparesia syndrome"/>
      </concept>
      <concept>
        <code value="2668"/>
        <display value="Nephropathy-deafness-hyperparathyroidism syndrome"/>
      </concept>
      <concept>
        <code value="2669"/>
        <display
                 value="Nephrosis-deafness-urinary tract-digital malformations syndrome"/>
      </concept>
      <concept>
        <code value="2670"/>
        <display value="Pierson syndrome"/>
      </concept>
      <concept>
        <code value="2671"/>
        <display value="Neu-Laxova syndrome"/>
      </concept>
      <concept>
        <code value="2672"/>
        <display value="Neuhauser-Eichner-Opitz syndrome"/>
      </concept>
      <concept>
        <code value="2673"/>
        <display value="Neurofaciodigitorenal syndrome"/>
      </concept>
      <concept>
        <code value="2674"/>
        <display value="Cyprus facial-neuromusculoskeletal syndrome"/>
      </concept>
      <concept>
        <code value="2678"/>
        <display value="Familial isolated café-au-lait macules"/>
      </concept>
      <concept>
        <code value="2680"/>
        <display value="Hypomyelination neuropathy-arthrogryposis syndrome"/>
      </concept>
      <concept>
        <code value="2686"/>
        <display value="Cyclic neutropenia"/>
      </concept>
      <concept>
        <code value="2688"/>
        <display value="Adult idiopathic neutropenia"/>
      </concept>
      <concept>
        <code value="2690"/>
        <display value="Neutropenia-monocytopenia-deafness syndrome"/>
      </concept>
      <concept>
        <code value="2695"/>
        <display value="Bifid nose"/>
      </concept>
      <concept>
        <code value="2697"/>
        <display
                 value="Arthrogryposis-renal dysfunction-cholestasis syndrome"/>
      </concept>
      <concept>
        <code value="2698"/>
        <display
                 value="Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome"/>
      </concept>
      <concept>
        <code value="2699"/>
        <display value="Median nodule of the upper lip"/>
      </concept>
      <concept>
        <code value="2700"/>
        <display value="Noma"/>
      </concept>
      <concept>
        <code value="2701"/>
        <display
                 value="Noonan syndrome-like disorder with loose anagen hair"/>
      </concept>
      <concept>
        <code value="2703"/>
        <display
                 value="Port-wine nevi-mega cisterna magna-hydrocephalus syndrome"/>
      </concept>
      <concept>
        <code value="2704"/>
        <display value="Urofacial syndrome"/>
      </concept>
      <concept>
        <code value="2707"/>
        <display value="Oculocerebrofacial syndrome, Kaufman type"/>
      </concept>
      <concept>
        <code value="2709"/>
        <display value="Oculodental syndrome, Rutherfurd type"/>
      </concept>
      <concept>
        <code value="2710"/>
        <display value="Oculodentodigital dysplasia"/>
      </concept>
      <concept>
        <code value="2712"/>
        <display value="Oculofaciocardiodental syndrome"/>
      </concept>
      <concept>
        <code value="2713"/>
        <display value="Oculoosteocutaneous syndrome"/>
      </concept>
      <concept>
        <code value="2714"/>
        <display value="Oculo-palato-cerebral syndrome"/>
      </concept>
      <concept>
        <code value="2715"/>
        <display value="Severe oculo-renal-cerebellar syndrome"/>
      </concept>
      <concept>
        <code value="2717"/>
        <display value="Oculotrichoanal syndrome"/>
      </concept>
      <concept>
        <code value="2718"/>
        <display value="Oculotrichodysplasia"/>
      </concept>
      <concept>
        <code value="2719"/>
        <display value="Oculocerebral hypopigmentation syndrome, Cross type"/>
      </concept>
      <concept>
        <code value="2720"/>
        <display value="Oculocerebral hypopigmentation syndrome, Preus type"/>
      </concept>
      <concept>
        <code value="2721"/>
        <display value="Odonto-onycho-dermal dysplasia"/>
      </concept>
      <concept>
        <code value="2722"/>
        <display value="Odonto-onycho dysplasia-alopecia syndrome"/>
      </concept>
      <concept>
        <code value="2723"/>
        <display value="Odontotrichomelic syndrome"/>
      </concept>
      <concept>
        <code value="2724"/>
        <display value="Odontomatosis-aortae esophagus stenosis syndrome"/>
      </concept>
      <concept>
        <code value="2728"/>
        <display
                 value="Blepharophimosis-intellectual disability syndrome, Ohdo type"/>
      </concept>
      <concept>
        <code value="2730"/>
        <display value="Postaxial tetramelic oligodactyly"/>
      </concept>
      <concept>
        <code value="2732"/>
        <display value="Olivopontocerebellar atrophy-deafness syndrome"/>
      </concept>
      <concept>
        <code value="2733"/>
        <display value="Omodysplasia"/>
      </concept>
      <concept>
        <code value="2736"/>
        <display value="Lethal omphalocele-cleft palate syndrome"/>
      </concept>
      <concept>
        <code value="2737"/>
        <display value="Onchocerciasis"/>
      </concept>
      <concept>
        <code value="2741"/>
        <display value="Ophthalmomandibulomelic dysplasia"/>
      </concept>
      <concept>
        <code value="2743"/>
        <display
                 value="Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome"/>
      </concept>
      <concept>
        <code value="2744"/>
        <display value="Horizontal gaze palsy with progressive scoliosis"/>
      </concept>
      <concept>
        <code value="2745"/>
        <display value="Opitz GBBB syndrome"/>
      </concept>
      <concept>
        <code value="2746"/>
        <display value="Opsismodysplasia"/>
      </concept>
      <concept>
        <code value="2750"/>
        <display value="Orofaciodigital syndrome type 1"/>
      </concept>
      <concept>
        <code value="2751"/>
        <display value="Orofaciodigital syndrome type 2"/>
      </concept>
      <concept>
        <code value="2753"/>
        <display value="Orofaciodigital syndrome type 4"/>
      </concept>
      <concept>
        <code value="2754"/>
        <display value="Orofaciodigital syndrome type 6"/>
      </concept>
      <concept>
        <code value="2755"/>
        <display value="Orofaciodigital syndrome type 8"/>
      </concept>
      <concept>
        <code value="2759"/>
        <display
                 value="Imperforate oropharynx-costovertebral anomalies syndrome"/>
      </concept>
      <concept>
        <code value="2760"/>
        <display value="OSLAM syndrome"/>
      </concept>
      <concept>
        <code value="2762"/>
        <display value="Progressive osseous heteroplasia"/>
      </concept>
      <concept>
        <code value="2763"/>
        <display value="Osteocraniostenosis"/>
      </concept>
      <concept>
        <code value="2764"/>
        <display value="Osteochondritis dissecans"/>
      </concept>
      <concept>
        <code value="2767"/>
        <display value="Carpotarsal osteochondromatosis"/>
      </concept>
      <concept>
        <code value="2768"/>
        <display value="Blount disease"/>
      </concept>
      <concept>
        <code value="2769"/>
        <display value="Familial osteodysplasia, Anderson type"/>
      </concept>
      <concept>
        <code value="2770"/>
        <display value="Nasu-Hakola disease"/>
      </concept>
      <concept>
        <code value="2771"/>
        <display value="Bruck syndrome"/>
      </concept>
      <concept>
        <code value="2772"/>
        <display
                 value="Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome"/>
      </concept>
      <concept>
        <code value="2773"/>
        <display
                 value="Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="2774"/>
        <display
                 value="Multicentric carpo-tarsal osteolysis with or without nephropathy"/>
      </concept>
      <concept>
        <code value="2776"/>
        <display value="Autosomal recessive distal osteolysis syndrome"/>
      </concept>
      <concept>
        <code value="2777"/>
        <display value="Osteomesopyknosis"/>
      </concept>
      <concept>
        <code value="2779"/>
        <display
                 value="Osteopathia striata-pigmentary dermopathy-white forelock syndrome"/>
      </concept>
      <concept>
        <code value="2780"/>
        <display value="Osteopathia striata-cranial sclerosis syndrome"/>
      </concept>
      <concept>
        <code value="2783"/>
        <display value="Autosomal dominant osteopetrosis type 1"/>
      </concept>
      <concept>
        <code value="2785"/>
        <display value="Osteopetrosis with renal tubular acidosis"/>
      </concept>
      <concept>
        <code value="2786"/>
        <display
                 value="Osteoporosis-oculocutaneous hypopigmentation syndrome"/>
      </concept>
      <concept>
        <code value="2787"/>
        <display
                 value="Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome"/>
      </concept>
      <concept>
        <code value="2788"/>
        <display value="Osteoporosis-pseudoglioma syndrome"/>
      </concept>
      <concept>
        <code value="2789"/>
        <display value="Lateral meningocele syndrome"/>
      </concept>
      <concept>
        <code value="2790"/>
        <display value="Endosteal hyperostosis, Worth type"/>
      </concept>
      <concept>
        <code value="2791"/>
        <display value="Otodental syndrome"/>
      </concept>
      <concept>
        <code value="2792"/>
        <display value="Otofaciocervical syndrome"/>
      </concept>
      <concept>
        <code value="2793"/>
        <display value="Otoonychoperoneal syndrome"/>
      </concept>
      <concept>
        <code value="2795"/>
        <display value="Fowler urethral sphincter dysfunction syndrome"/>
      </concept>
      <concept>
        <code value="2796"/>
        <display value="Pachydermoperiostosis"/>
      </concept>
      <concept>
        <code value="2798"/>
        <display
                 value="Pachygyria-intellectual disability-epilepsy syndrome"/>
      </concept>
      <concept>
        <code value="2800"/>
        <display value="Extramammary Paget disease"/>
      </concept>
      <concept>
        <code value="2801"/>
        <display value="Juvenile Paget disease"/>
      </concept>
      <concept>
        <code value="2802"/>
        <display
                 value="X-linked sideroblastic anemia and spinocerebellar ataxia"/>
      </concept>
      <concept>
        <code value="2804"/>
        <display value="W syndrome"/>
      </concept>
      <concept>
        <code value="2805"/>
        <display value="Partial pancreatic agenesis"/>
      </concept>
      <concept>
        <code value="2806"/>
        <display value="Subacute sclerosing leukoencephalitis"/>
      </concept>
      <concept>
        <code value="2807"/>
        <display value="Papilloma of choroid plexus"/>
      </concept>
      <concept>
        <code value="2808"/>
        <display value="Laryngeal abductor paralysis"/>
      </concept>
      <concept>
        <code value="2809"/>
        <display value="Familial recurrent peripheral facial palsy"/>
      </concept>
      <concept>
        <code value="2812"/>
        <display value="Parana hard skin syndrome"/>
      </concept>
      <concept>
        <code value="2815"/>
        <display value="Spastic paraparesis-deafness syndrome"/>
      </concept>
      <concept>
        <code value="2818"/>
        <display
                 value="Spastic paraplegia-glaucoma-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="2819"/>
        <display
                 value="Spastic paraplegia-facial-cutaneous lesions syndrome"/>
      </concept>
      <concept>
        <code value="2820"/>
        <display value="Spastic paraplegia-nephritis-deafness syndrome"/>
      </concept>
      <concept>
        <code value="2821"/>
        <display value="Spastic paraplegia-neuropathy-poikiloderma syndrome"/>
      </concept>
      <concept>
        <code value="2822"/>
        <display value="Autosomal recessive spastic paraplegia type 11"/>
      </concept>
      <concept>
        <code value="2824"/>
        <display
                 value="Paraplegia-intellectual disability-hyperkeratosis syndrome"/>
      </concept>
      <concept>
        <code value="2825"/>
        <display value="PARC syndrome"/>
      </concept>
      <concept>
        <code value="2826"/>
        <display value="Spastic paraplegia-precocious puberty syndrome"/>
      </concept>
      <concept>
        <code value="2828"/>
        <display value="Young-onset Parkinson disease"/>
      </concept>
      <concept>
        <code value="2831"/>
        <display value="Rhizomelic dysplasia, Patterson-Lowry type"/>
      </concept>
      <concept>
        <code value="2832"/>
        <display value="Short tarsus-absence of lower eyelashes syndrome"/>
      </concept>
      <concept>
        <code value="2833"/>
        <display value="Stiff skin syndrome"/>
      </concept>
      <concept>
        <code value="2834"/>
        <display value="Wrinkly skin syndrome"/>
      </concept>
      <concept>
        <code value="2835"/>
        <display
                 value="Pectus excavatum-macrocephaly-dysplastic nails syndrome"/>
      </concept>
      <concept>
        <code value="2836"/>
        <display value="PEHO syndrome"/>
      </concept>
      <concept>
        <code value="2838"/>
        <display value="Renal caliceal diverticuli-deafness syndrome"/>
      </concept>
      <concept>
        <code value="2839"/>
        <display value="Pelvis-shoulder dysplasia"/>
      </concept>
      <concept>
        <code value="2840"/>
        <display
                 value="Pelvic dysplasia-arthrogryposis of lower limbs syndrome"/>
      </concept>
      <concept>
        <code value="2841"/>
        <display value="Hailey-Hailey disease"/>
      </concept>
      <concept>
        <code value="2842"/>
        <display value="Penoscrotal transposition"/>
      </concept>
      <concept>
        <code value="2843"/>
        <display value="Pentosuria"/>
      </concept>
      <concept>
        <code value="2847"/>
        <display value="Pericardial and diaphragmatic defect"/>
      </concept>
      <concept>
        <code value="2848"/>
        <display
                 value="Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome"/>
      </concept>
      <concept>
        <code value="2849"/>
        <display value="Perlman syndrome"/>
      </concept>
      <concept>
        <code value="2850"/>
        <display value="Alopecia-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="2854"/>
        <display value="Fuhrmann syndrome"/>
      </concept>
      <concept>
        <code value="2855"/>
        <display value="Perrault syndrome"/>
      </concept>
      <concept>
        <code value="2856"/>
        <display value="Persistent Müllerian duct syndrome"/>
      </concept>
      <concept>
        <code value="2863"/>
        <display value="Short stature-wormian bones-dextrocardia syndrome"/>
      </concept>
      <concept>
        <code value="2865"/>
        <display value="Short stature-webbed neck-heart disease syndrome"/>
      </concept>
      <concept>
        <code value="2866"/>
        <display
                 value="Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="2867"/>
        <display value="Short stature, Brussels type"/>
      </concept>
      <concept>
        <code value="2868"/>
        <display
                 value="Short stature-valvular heart disease-characteristic facies syndrome"/>
      </concept>
      <concept>
        <code value="2869"/>
        <display value="Peutz-Jeghers syndrome"/>
      </concept>
      <concept>
        <code value="2871"/>
        <display value="Pfeiffer-Palm-Teller syndrome"/>
      </concept>
      <concept>
        <code value="2872"/>
        <display value="Cardiocranial syndrome, Pfeiffer type"/>
      </concept>
      <concept>
        <code value="2874"/>
        <display value="Phakomatosis pigmentokeratotica"/>
      </concept>
      <concept>
        <code value="2875"/>
        <display value="Phakomatosis pigmentovascularis"/>
      </concept>
      <concept>
        <code value="2876"/>
        <display value="PHAVER syndrome"/>
      </concept>
      <concept>
        <code value="2879"/>
        <display value="Phocomelia, Schinzel type"/>
      </concept>
      <concept>
        <code value="2880"/>
        <display value="Phosphoenolpyruvate carboxykinase deficiency"/>
      </concept>
      <concept>
        <code value="2881"/>
        <display value="Cutaneous photosensitivity-lethal colitis syndrome"/>
      </concept>
      <concept>
        <code value="2882"/>
        <display value="Sitosterolemia"/>
      </concept>
      <concept>
        <code value="2884"/>
        <display value="Piebaldism"/>
      </concept>
      <concept>
        <code value="2885"/>
        <display value="Piebald trait-neurologic defects syndrome"/>
      </concept>
      <concept>
        <code value="2886"/>
        <display value="TARP syndrome"/>
      </concept>
      <concept>
        <code value="2888"/>
        <display value="Pierre Robin syndrome-faciodigital anomaly syndrome"/>
      </concept>
      <concept>
        <code value="2889"/>
        <display value="Pili torti"/>
      </concept>
      <concept>
        <code value="2890"/>
        <display value="Pili torti-onychodysplasia syndrome"/>
      </concept>
      <concept>
        <code value="2891"/>
        <display
                 value="Pili torti-developmental delay-neurological abnormalities syndrome"/>
      </concept>
      <concept>
        <code value="2892"/>
        <display value="Pilodental dysplasia-refractive errors syndrome"/>
      </concept>
      <concept>
        <code value="2896"/>
        <display value="Pitt-Hopkins syndrome"/>
      </concept>
      <concept>
        <code value="2897"/>
        <display value="Pityriasis rubra pilaris"/>
      </concept>
      <concept>
        <code value="2898"/>
        <display
                 value="X-linked intellectual disability-plagiocephaly syndrome"/>
      </concept>
      <concept>
        <code value="2899"/>
        <display value="Brachyolmia-amelogenesis imperfecta syndrome"/>
      </concept>
      <concept>
        <code value="2900"/>
        <display value="Leri pleonosteosis"/>
      </concept>
      <concept>
        <code value="2901"/>
        <display value="Neuralgic amyotrophy"/>
      </concept>
      <concept>
        <code value="2902"/>
        <display value="Idiopathic chronic eosinophilic pneumonia"/>
      </concept>
      <concept>
        <code value="2903"/>
        <display value="Familial spontaneous pneumothorax"/>
      </concept>
      <concept>
        <code value="2905"/>
        <display value="POEMS syndrome"/>
      </concept>
      <concept>
        <code value="2907"/>
        <display value="Hereditary acrokeratotic poikiloderma"/>
      </concept>
      <concept>
        <code value="2908"/>
        <display value="Kindler epidermolysis bullosa"/>
      </concept>
      <concept>
        <code value="2909"/>
        <display value="Rothmund-Thomson syndrome"/>
      </concept>
      <concept>
        <code value="2911"/>
        <display value="Poland syndrome"/>
      </concept>
      <concept>
        <code value="2912"/>
        <display value="Poliomyelitis"/>
      </concept>
      <concept>
        <code value="2916"/>
        <display
                 value="Postaxial polydactyly-dental and vertebral anomalies syndrome"/>
      </concept>
      <concept>
        <code value="2917"/>
        <display value="Polydactyly-myopia syndrome"/>
      </concept>
      <concept>
        <code value="2919"/>
        <display value="Orofaciodigital syndrome type 5"/>
      </concept>
      <concept>
        <code value="2920"/>
        <display value="Oliver syndrome"/>
      </concept>
      <concept>
        <code value="2921"/>
        <display
                 value="Preaxial polydactyly-colobomata-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="2924"/>
        <display value="Isolated polycystic liver disease"/>
      </concept>
      <concept>
        <code value="2926"/>
        <display value="Digital extensor muscle aplasia-polyneuropathy"/>
      </concept>
      <concept>
        <code value="2928"/>
        <display
                 value="Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome"/>
      </concept>
      <concept>
        <code value="2929"/>
        <display value="Juvenile polyposis syndrome"/>
      </concept>
      <concept>
        <code value="2930"/>
        <display value="Cronkhite-Canada syndrome"/>
      </concept>
      <concept>
        <code value="2932"/>
        <display value="Chronic inflammatory demyelinating polyneuropathy"/>
      </concept>
      <concept>
        <code value="2934"/>
        <display value="Polysyndactyly-cardiac malformation syndrome"/>
      </concept>
      <concept>
        <code value="2935"/>
        <display value="Crossed polysyndactyly"/>
      </concept>
      <concept>
        <code value="2940"/>
        <display value="Porencephaly"/>
      </concept>
      <concept>
        <code value="2941"/>
        <display
                 value="Porencephaly-cerebellar hypoplasia-internal malformations syndrome"/>
      </concept>
      <concept>
        <code value="2942"/>
        <display value="Postpoliomyelitis syndrome"/>
      </concept>
      <concept>
        <code value="2946"/>
        <display value="Brachydactyly-long thumb syndrome"/>
      </concept>
      <concept>
        <code value="2947"/>
        <display value="Triphalangeal thumbs-brachyectrodactyly syndrome"/>
      </concept>
      <concept>
        <code value="2951"/>
        <display
                 value="Absent thumb-short stature-immunodeficiency syndrome"/>
      </concept>
      <concept>
        <code value="2952"/>
        <display
                 value="Adducted thumbs-arthrogryposis syndrome, Christian type"/>
      </concept>
      <concept>
        <code value="2953"/>
        <display value="Musculocontractural Ehlers-Danlos syndrome"/>
      </concept>
      <concept>
        <code value="2956"/>
        <display value="Acrodysplasia scoliosis"/>
      </concept>
      <concept>
        <code value="2957"/>
        <display value="Guttmacher syndrome"/>
      </concept>
      <concept>
        <code value="2958"/>
        <display
                 value="X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome"/>
      </concept>
      <concept>
        <code value="2959"/>
        <display value="Progeria-short stature-pigmented nevi syndrome"/>
      </concept>
      <concept>
        <code value="2962"/>
        <display value="De Barsy syndrome"/>
      </concept>
      <concept>
        <code value="2963"/>
        <display value="Progeroid syndrome, Petty type"/>
      </concept>
      <concept>
        <code value="2964"/>
        <display value="Autosomal dominant prognathism"/>
      </concept>
      <concept>
        <code value="2965"/>
        <display value="Prolactinoma"/>
      </concept>
      <concept>
        <code value="2966"/>
        <display value="Properdin deficiency"/>
      </concept>
      <concept>
        <code value="2967"/>
        <display value="Transcobalamin I deficiency"/>
      </concept>
      <concept>
        <code value="2968"/>
        <display value="Leukocyte adhesion deficiency"/>
      </concept>
      <concept>
        <code value="2969"/>
        <display value="Proteus-like syndrome"/>
      </concept>
      <concept>
        <code value="2970"/>
        <display value="Prune belly syndrome"/>
      </concept>
      <concept>
        <code value="2971"/>
        <display value="Peroxisomal acyl-CoA oxidase deficiency"/>
      </concept>
      <concept>
        <code value="2972"/>
        <display
                 value="Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome"/>
      </concept>
      <concept>
        <code value="2973"/>
        <display
                 value="46,XX difference of sex development-anorectal anomalies syndrome"/>
      </concept>
      <concept>
        <code value="2975"/>
        <display
                 value="46,XX difference of sex development-skeletal anomalies syndrome"/>
      </concept>
      <concept>
        <code value="2976"/>
        <display value="Pseudoleprechaunism syndrome, Patterson type"/>
      </concept>
      <concept>
        <code value="2978"/>
        <display value="Chronic intestinal pseudoobstruction"/>
      </concept>
      <concept>
        <code value="2980"/>
        <display value="Acrootoocular syndrome"/>
      </concept>
      <concept>
        <code value="2983"/>
        <display
                 value="Difference of sex development-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="2985"/>
        <display value="Pseudoprogeria syndrome"/>
      </concept>
      <concept>
        <code value="2987"/>
        <display value="Antecubital pterygium syndrome"/>
      </concept>
      <concept>
        <code value="2988"/>
        <display
                 value="Pterygium colli-intellectual disability-digital anomalies syndrome"/>
      </concept>
      <concept>
        <code value="2989"/>
        <display value="Familial pterygium of the conjunctiva"/>
      </concept>
      <concept>
        <code value="2990"/>
        <display value="Autosomal recessive multiple pterygium syndrome"/>
      </concept>
      <concept>
        <code value="2994"/>
        <display
                 value="Short stature-craniofacial anomalies-genital hypoplasia syndrome"/>
      </concept>
      <concept>
        <code value="2995"/>
        <display value="Baraitser-Winter cerebrofrontofacial syndrome"/>
      </concept>
      <concept>
        <code value="2997"/>
        <display value="Ptosis-vocal cord paralysis syndrome"/>
      </concept>
      <concept>
        <code value="2999"/>
        <display value="Ptosis-strabismus-ectopic pupils syndrome"/>
      </concept>
      <concept>
        <code value="3000"/>
        <display value="Familial peripheral male-limited precocious puberty"/>
      </concept>
      <concept>
        <code value="3002"/>
        <display value="Immune thrombocytopenia"/>
      </concept>
      <concept>
        <code value="3003"/>
        <display value="Pyknoachondrogenesis"/>
      </concept>
      <concept>
        <code value="3004"/>
        <display
                 value="Mirror polydactyly-vertebral segmentation-limbs defects syndrome"/>
      </concept>
      <concept>
        <code value="3005"/>
        <display value="Pyle disease"/>
      </concept>
      <concept>
        <code value="3006"/>
        <display value="Pyridoxine-dependent epilepsy"/>
      </concept>
      <concept>
        <code value="3008"/>
        <display value="Pyruvate carboxylase deficiency"/>
      </concept>
      <concept>
        <code value="3010"/>
        <display value="Qazi-Markouizos syndrome"/>
      </concept>
      <concept>
        <code value="3011"/>
        <display
                 value="Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="3015"/>
        <display value="Radio-renal syndrome"/>
      </concept>
      <concept>
        <code value="3016"/>
        <display value="Absent radius-anogenital anomalies syndrome"/>
      </concept>
      <concept>
        <code value="3018"/>
        <display
                 value="Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome"/>
      </concept>
      <concept>
        <code value="3019"/>
        <display value="Ramon syndrome"/>
      </concept>
      <concept>
        <code value="3020"/>
        <display value="Ramsay Hunt syndrome"/>
      </concept>
      <concept>
        <code value="3021"/>
        <display value="RAPADILINO syndrome"/>
      </concept>
      <concept>
        <code value="3023"/>
        <display
                 value="External auditory canal atresia-vertical talus-hypertelorism syndrome"/>
      </concept>
      <concept>
        <code value="3026"/>
        <display value="Radial ray hypoplasia-choanal atresia syndrome"/>
      </concept>
      <concept>
        <code value="3027"/>
        <display value="Caudal regression syndrome"/>
      </concept>
      <concept>
        <code value="3032"/>
        <display value="NPHP3-related Meckel-like syndrome"/>
      </concept>
      <concept>
        <code value="3033"/>
        <display value="Renal tubular dysgenesis"/>
      </concept>
      <concept>
        <code value="3034"/>
        <display value="Delayed membranous cranial ossification"/>
      </concept>
      <concept>
        <code value="3035"/>
        <display value="Growth delay-hydrocephaly-lung hypoplasia syndrome"/>
      </concept>
      <concept>
        <code value="3038"/>
        <display
                 value="Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome"/>
      </concept>
      <concept>
        <code value="3041"/>
        <display
                 value="Intellectual disability-balding-patella luxation-acromicria syndrome"/>
      </concept>
      <concept>
        <code value="3042"/>
        <display
                 value="Intellectual disability-cataracts-calcified pinnae-myopathy syndrome"/>
      </concept>
      <concept>
        <code value="3044"/>
        <display
                 value="Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome"/>
      </concept>
      <concept>
        <code value="3047"/>
        <display
                 value="Blepharophimosis-intellectual disability syndrome, SBBYS type"/>
      </concept>
      <concept>
        <code value="3051"/>
        <display value="Nicolaides-Baraitser syndrome"/>
      </concept>
      <concept>
        <code value="3052"/>
        <display
                 value="X-linked intellectual disability-seizures-psoriasis syndrome"/>
      </concept>
      <concept>
        <code value="3055"/>
        <display
                 value="X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome"/>
      </concept>
      <concept>
        <code value="3057"/>
        <display value="Monoamine oxidase A deficiency"/>
      </concept>
      <concept>
        <code value="3063"/>
        <display value="X-linked intellectual disability, Snyder type"/>
      </concept>
      <concept>
        <code value="3068"/>
        <display
                 value="Intellectual disability-myopathy-short stature-endocrine defect syndrome"/>
      </concept>
      <concept>
        <code value="3071"/>
        <display value="Costello syndrome"/>
      </concept>
      <concept>
        <code value="3074"/>
        <display
                 value="Intellectual disability-short stature-hypertelorism syndrome"/>
      </concept>
      <concept>
        <code value="3077"/>
        <display
                 value="X-linked intellectual disability-psychosis-macroorchidism syndrome"/>
      </concept>
      <concept>
        <code value="3078"/>
        <display
                 value="Severe X-linked intellectual disability, Gustavson type"/>
      </concept>
      <concept>
        <code value="3079"/>
        <display value="Intellectual disability, Buenos-Aires type"/>
      </concept>
      <concept>
        <code value="3080"/>
        <display value="Intellectual disability, Wolff type"/>
      </concept>
      <concept>
        <code value="3082"/>
        <display
                 value="Intellectual disability-polydactyly-uncombable hair syndrome"/>
      </concept>
      <concept>
        <code value="3085"/>
        <display
                 value="Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome"/>
      </concept>
      <concept>
        <code value="3086"/>
        <display value="Autosomal dominant vitreoretinochoroidopathy"/>
      </concept>
      <concept>
        <code value="3088"/>
        <display value="Revesz syndrome"/>
      </concept>
      <concept>
        <code value="3092"/>
        <display value="Fixed subaortic stenosis"/>
      </concept>
      <concept>
        <code value="3093"/>
        <display value="Congenital aortic valve stenosis"/>
      </concept>
      <concept>
        <code value="3095"/>
        <display value="Atypical Rett syndrome"/>
      </concept>
      <concept>
        <code value="3096"/>
        <display value="Reye syndrome"/>
      </concept>
      <concept>
        <code value="3097"/>
        <display value="Meacham syndrome"/>
      </concept>
      <concept>
        <code value="3098"/>
        <display value="Rhizomelic syndrome, Urbach type"/>
      </concept>
      <concept>
        <code value="3099"/>
        <display value="Rheumatic fever"/>
      </concept>
      <concept>
        <code value="3101"/>
        <display value="Richieri Costa-da Silva syndrome"/>
      </concept>
      <concept>
        <code value="3102"/>
        <display value="Richieri Costa-Pereira syndrome"/>
      </concept>
      <concept>
        <code value="3103"/>
        <display value="Roberts syndrome"/>
      </concept>
      <concept>
        <code value="3104"/>
        <display value="Robin sequence-oligodactyly syndrome"/>
      </concept>
      <concept>
        <code value="3107"/>
        <display value="Autosomal dominant Robinow syndrome"/>
      </concept>
      <concept>
        <code value="3109"/>
        <display value="Mayer-Rokitansky-Küster-Hauser syndrome"/>
      </concept>
      <concept>
        <code value="3110"/>
        <display value="Rombo syndrome"/>
      </concept>
      <concept>
        <code value="3111"/>
        <display value="Rotor syndrome"/>
      </concept>
      <concept>
        <code value="3115"/>
        <display value="Roussy-Lévy syndrome"/>
      </concept>
      <concept>
        <code value="3121"/>
        <display value="Ruvalcaba syndrome"/>
      </concept>
      <concept>
        <code value="3124"/>
        <display value="Saccharopinuria"/>
      </concept>
      <concept>
        <code value="3129"/>
        <display value="Sarcosinemia"/>
      </concept>
      <concept>
        <code value="3130"/>
        <display value="Satoyoshi syndrome"/>
      </concept>
      <concept>
        <code value="3132"/>
        <display value="Say-Barber-Miller syndrome"/>
      </concept>
      <concept>
        <code value="3134"/>
        <display value="SCARF syndrome"/>
      </concept>
      <concept>
        <code value="3137"/>
        <display value="Alpha-N-acetylgalactosaminidase deficiency"/>
      </concept>
      <concept>
        <code value="3138"/>
        <display value="Ulnar-mammary syndrome"/>
      </concept>
      <concept>
        <code value="3143"/>
        <display value="Autoimmune polyendocrinopathy type 2"/>
      </concept>
      <concept>
        <code value="3144"/>
        <display value="Schneckenbecken dysplasia"/>
      </concept>
      <concept>
        <code value="3145"/>
        <display
                 value="Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="3148"/>
        <display value="Malignant peripheral nerve sheath tumor"/>
      </concept>
      <concept>
        <code value="3151"/>
        <display
                 value="Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome"/>
      </concept>
      <concept>
        <code value="3152"/>
        <display value="Sclerosteosis"/>
      </concept>
      <concept>
        <code value="3156"/>
        <display value="Senior-Loken syndrome"/>
      </concept>
      <concept>
        <code value="3157"/>
        <display value="Septo-optic dysplasia spectrum"/>
      </concept>
      <concept>
        <code value="3161"/>
        <display value="Congenital pulmonary sequestration"/>
      </concept>
      <concept>
        <code value="3162"/>
        <display value="Sézary syndrome"/>
      </concept>
      <concept>
        <code value="3163"/>
        <display value="SHORT syndrome"/>
      </concept>
      <concept>
        <code value="3164"/>
        <display value="Omphalocele syndrome, Shprintzen-Goldberg type"/>
      </concept>
      <concept>
        <code value="3165"/>
        <display value="Eosinophilic fasciitis"/>
      </concept>
      <concept>
        <code value="3166"/>
        <display value="Sialuria"/>
      </concept>
      <concept>
        <code value="3167"/>
        <display value="Siegler-Brewer-Carey syndrome"/>
      </concept>
      <concept>
        <code value="3168"/>
        <display value="Sillence syndrome"/>
      </concept>
      <concept>
        <code value="3169"/>
        <display value="Sirenomelia"/>
      </concept>
      <concept>
        <code value="3172"/>
        <display value="Eyebrow duplication-syndactyly syndrome"/>
      </concept>
      <concept>
        <code value="3173"/>
        <display value="Infantile spasms-broad thumbs syndrome"/>
      </concept>
      <concept>
        <code value="3175"/>
        <display
                 value="X-linked spasticity-intellectual disability-epilepsy syndrome"/>
      </concept>
      <concept>
        <code value="3176"/>
        <display value="Spina bifida-hypospadias syndrome"/>
      </concept>
      <concept>
        <code value="3177"/>
        <display
                 value="Spinocerebellar degeneration-corneal dystrophy syndrome"/>
      </concept>
      <concept>
        <code value="3180"/>
        <display value="Spondylocamptodactyly syndrome"/>
      </concept>
      <concept>
        <code value="3181"/>
        <display value="Sprengel deformity"/>
      </concept>
      <concept>
        <code value="3184"/>
        <display value="Steatocystoma multiplex-natal teeth syndrome"/>
      </concept>
      <concept>
        <code value="3186"/>
        <display
                 value="Holoprosencephaly-radial heart renal anomalies syndrome"/>
      </concept>
      <concept>
        <code value="3189"/>
        <display value="Congenital pulmonary valvar stenosis"/>
      </concept>
      <concept>
        <code value="3190"/>
        <display value="Subpulmonary stenosis"/>
      </concept>
      <concept>
        <code value="3191"/>
        <display value="Subaortic stenosis-short stature syndrome"/>
      </concept>
      <concept>
        <code value="3192"/>
        <display value="Supravalvular pulmonary stenosis"/>
      </concept>
      <concept>
        <code value="3193"/>
        <display value="Supravalvular aortic stenosis"/>
      </concept>
      <concept>
        <code value="3194"/>
        <display value="Corneodermatoosseous syndrome"/>
      </concept>
      <concept>
        <code value="3196"/>
        <display
                 value="Steroid dehydrogenase deficiency-dental anomalies syndrome"/>
      </concept>
      <concept>
        <code value="3197"/>
        <display value="Hereditary hyperekplexia"/>
      </concept>
      <concept>
        <code value="3198"/>
        <display value="Stiff person spectrum disorder"/>
      </concept>
      <concept>
        <code value="3199"/>
        <display value="Stimmler syndrome"/>
      </concept>
      <concept>
        <code value="3200"/>
        <display value="Arthrogryposis-ectodermal dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="3201"/>
        <display
                 value="Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome"/>
      </concept>
      <concept>
        <code value="3202"/>
        <display value="Dehydrated hereditary stomatocytosis"/>
      </concept>
      <concept>
        <code value="3203"/>
        <display value="Overhydrated hereditary stomatocytosis"/>
      </concept>
      <concept>
        <code value="3204"/>
        <display value="Stormorken-Sjaastad-Langslet syndrome"/>
      </concept>
      <concept>
        <code value="3205"/>
        <display value="Sturge-Weber syndrome"/>
      </concept>
      <concept>
        <code value="3206"/>
        <display value="Stüve-Wiedemann syndrome"/>
      </concept>
      <concept>
        <code value="3207"/>
        <display
                 value="White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="3208"/>
        <display value="Isolated succinate-CoQ reductase deficiency"/>
      </concept>
      <concept>
        <code value="3214"/>
        <display value="Deaf blind hypopigmentation syndrome, Yemenite type"/>
      </concept>
      <concept>
        <code value="3216"/>
        <display value="Conductive deafness-malformed external ear syndrome"/>
      </concept>
      <concept>
        <code value="3217"/>
        <display
                 value="Deafness-small bowel diverticulosis-neuropathy syndrome"/>
      </concept>
      <concept>
        <code value="3218"/>
        <display
                 value="Deafness-epiphyseal dysplasia-short stature syndrome"/>
      </concept>
      <concept>
        <code value="3219"/>
        <display value="Fountain syndrome"/>
      </concept>
      <concept>
        <code value="3220"/>
        <display value="Deafness-enamel hypoplasia-nail defects syndrome"/>
      </concept>
      <concept>
        <code value="3222"/>
        <display
                 value="Phosphoribosylpyrophosphate synthetase superactivity"/>
      </concept>
      <concept>
        <code value="3224"/>
        <display
                 value="Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome"/>
      </concept>
      <concept>
        <code value="3225"/>
        <display
                 value="Hearing loss-familial salivary gland insensitivity to aldosterone syndrome"/>
      </concept>
      <concept>
        <code value="3230"/>
        <display value="Deafness-oligodontia syndrome"/>
      </concept>
      <concept>
        <code value="3232"/>
        <display value="Deafness-ear malformation-facial palsy syndrome"/>
      </concept>
      <concept>
        <code value="3233"/>
        <display value="Cochleosaccular degeneration-cataract syndrome"/>
      </concept>
      <concept>
        <code value="3235"/>
        <display value="Progressive deafness with stapes fixation"/>
      </concept>
      <concept>
        <code value="3236"/>
        <display
                 value="Conductive deafness-ptosis-skeletal anomalies syndrome"/>
      </concept>
      <concept>
        <code value="3237"/>
        <display value="Multiple synostoses syndrome"/>
      </concept>
      <concept>
        <code value="3238"/>
        <display value="Cardiospondylocarpofacial syndrome"/>
      </concept>
      <concept>
        <code value="3239"/>
        <display value="Deafness-vitiligo-achalasia syndrome"/>
      </concept>
      <concept>
        <code value="3240"/>
        <display
                 value="Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome"/>
      </concept>
      <concept>
        <code value="3241"/>
        <display value="Deafness-craniofacial syndrome"/>
      </concept>
      <concept>
        <code value="3242"/>
        <display value="Renpenning syndrome"/>
      </concept>
      <concept>
        <code value="3243"/>
        <display value="Sweet syndrome"/>
      </concept>
      <concept>
        <code value="3246"/>
        <display
                 value="Symphalangism with multiple anomalies of hands and feet"/>
      </concept>
      <concept>
        <code value="3248"/>
        <display value="Isolated distal symphalangism"/>
      </concept>
      <concept>
        <code value="3250"/>
        <display value="Proximal symphalangism"/>
      </concept>
      <concept>
        <code value="3253"/>
        <display value="Cleft lip/palate-ectodermal dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="3255"/>
        <display value="Filippi syndrome"/>
      </concept>
      <concept>
        <code value="3258"/>
        <display value="Cenani-Lenz syndrome"/>
      </concept>
      <concept>
        <code value="3259"/>
        <display value="Syndactyly-polydactyly-ear lobe syndrome"/>
      </concept>
      <concept>
        <code value="3260"/>
        <display value="Idiopathic hypereosinophilic syndrome"/>
      </concept>
      <concept>
        <code value="3261"/>
        <display value="Autoimmune lymphoproliferative syndrome"/>
      </concept>
      <concept>
        <code value="3262"/>
        <display value="Dobrow syndrome"/>
      </concept>
      <concept>
        <code value="3263"/>
        <display value="Syngnathia-cleft palate syndrome"/>
      </concept>
      <concept>
        <code value="3265"/>
        <display value="Isolated humero-radial synostosis"/>
      </concept>
      <concept>
        <code value="3266"/>
        <display value="Isolated humero-radio-ulnar synostosis"/>
      </concept>
      <concept>
        <code value="3268"/>
        <display
                 value="Radioulnar synostosis-microcephaly-scoliosis syndrome"/>
      </concept>
      <concept>
        <code value="3269"/>
        <display value="Isolated radio-ulnar synostosis"/>
      </concept>
      <concept>
        <code value="3270"/>
        <display
                 value="Radioulnar synostosis-developmental delay-hypotonia syndrome"/>
      </concept>
      <concept>
        <code value="3273"/>
        <display value="Synovial sarcoma"/>
      </concept>
      <concept>
        <code value="3275"/>
        <display value="Spondylocarpotarsal synostosis"/>
      </concept>
      <concept>
        <code value="3282"/>
        <display value="Multifocal atrial tachycardia"/>
      </concept>
      <concept>
        <code value="3283"/>
        <display value="His bundle tachycardia"/>
      </concept>
      <concept>
        <code value="3286"/>
        <display
                 value="Catecholaminergic polymorphic ventricular tachycardia"/>
      </concept>
      <concept>
        <code value="3287"/>
        <display value="Takayasu arteritis"/>
      </concept>
      <concept>
        <code value="3291"/>
        <display value="Teebi-Shaltout syndrome"/>
      </concept>
      <concept>
        <code value="3292"/>
        <display value="Tel Hashomer camptodactyly syndrome"/>
      </concept>
      <concept>
        <code value="3293"/>
        <display
                 value="Telecanthus-hypertelorism-strabismus-pes cavus syndrome"/>
      </concept>
      <concept>
        <code value="3294"/>
        <display value="Extensor tendons of finger anomalies"/>
      </concept>
      <concept>
        <code value="3299"/>
        <display value="Tetanus"/>
      </concept>
      <concept>
        <code value="3301"/>
        <display value="Tetraamelia-multiple malformations syndrome"/>
      </concept>
      <concept>
        <code value="3303"/>
        <display value="Tetralogy of Fallot"/>
      </concept>
      <concept>
        <code value="3304"/>
        <display
                 value="Fallot complex-intellectual disability-growth delay syndrome"/>
      </concept>
      <concept>
        <code value="3305"/>
        <display value="Tetraploidy"/>
      </concept>
      <concept>
        <code value="3306"/>
        <display value="Inverted duplicated chromosome 15 syndrome"/>
      </concept>
      <concept>
        <code value="3307"/>
        <display value="Tetrasomy 18p"/>
      </concept>
      <concept>
        <code value="3309"/>
        <display value="Tetrasomy 5p"/>
      </concept>
      <concept>
        <code value="3310"/>
        <display value="Tetrasomy 9p"/>
      </concept>
      <concept>
        <code value="3312"/>
        <display value="Thalidomide embryopathy"/>
      </concept>
      <concept>
        <code value="3314"/>
        <display value="Thiemann disease, familial form"/>
      </concept>
      <concept>
        <code value="3316"/>
        <display value="Thomas syndrome"/>
      </concept>
      <concept>
        <code value="3317"/>
        <display value="Thoracolaryngopelvic dysplasia"/>
      </concept>
      <concept>
        <code value="3318"/>
        <display value="Essential thrombocythemia"/>
      </concept>
      <concept>
        <code value="3319"/>
        <display value="Congenital amegakaryocytic thrombocytopenia"/>
      </concept>
      <concept>
        <code value="3320"/>
        <display value="Thrombocytopenia-absent radius syndrome"/>
      </concept>
      <concept>
        <code value="3322"/>
        <display value="Hoyeraal-Hreidarsson syndrome"/>
      </concept>
      <concept>
        <code value="3324"/>
        <display value="Familial thrombomodulin anomalies"/>
      </concept>
      <concept>
        <code value="3325"/>
        <display value="Heparin-induced thrombocytopenia"/>
      </concept>
      <concept>
        <code value="3326"/>
        <display value="Thymic-renal-anal-lung dysplasia"/>
      </concept>
      <concept>
        <code value="3327"/>
        <display value="Thyrocerebrorenal syndrome"/>
      </concept>
      <concept>
        <code value="3328"/>
        <display value="Absent tibia-polydactyly-arachnoid cyst syndrome"/>
      </concept>
      <concept>
        <code value="3329"/>
        <display value="Tibial aplasia-ectrodactyly syndrome"/>
      </concept>
      <concept>
        <code value="3337"/>
        <display value="Primary Fanconi renotubular syndrome"/>
      </concept>
      <concept>
        <code value="3338"/>
        <display value="Toriello-Carey syndrome"/>
      </concept>
      <concept>
        <code value="3339"/>
        <display value="Oculoectodermal syndrome"/>
      </concept>
      <concept>
        <code value="3341"/>
        <display
                 value="Torticollis-keloids-cryptorchidism-renal dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="3342"/>
        <display value="Arterial tortuosity syndrome"/>
      </concept>
      <concept>
        <code value="3343"/>
        <display value="Toxocariasis"/>
      </concept>
      <concept>
        <code value="3344"/>
        <display value="Weismann-Netter syndrome"/>
      </concept>
      <concept>
        <code value="3346"/>
        <display value="Tracheal agenesis"/>
      </concept>
      <concept>
        <code value="3347"/>
        <display value="Mounier-Kühn syndrome"/>
      </concept>
      <concept>
        <code value="3348"/>
        <display value="Tracheobronchopathia osteochondroplastica"/>
      </concept>
      <concept>
        <code value="3350"/>
        <display value="Tremor-nystagmus-duodenal ulcer syndrome"/>
      </concept>
      <concept>
        <code value="3351"/>
        <display value="Trichodental syndrome"/>
      </concept>
      <concept>
        <code value="3352"/>
        <display value="Tricho-dento-osseous syndrome"/>
      </concept>
      <concept>
        <code value="3353"/>
        <display value="Trichodermodysplasia-dental alterations syndrome"/>
      </concept>
      <concept>
        <code value="3355"/>
        <display value="Trichoodontoonychial dysplasia"/>
      </concept>
      <concept>
        <code value="3361"/>
        <display value="Trichodysplasia-xeroderma syndrome"/>
      </concept>
      <concept>
        <code value="3363"/>
        <display
                 value="Trichomegaly-retina pigmentary degeneration-dwarfism syndrome"/>
      </concept>
      <concept>
        <code value="3365"/>
        <display value="Trigonocephaly-broad thumbs syndrome"/>
      </concept>
      <concept>
        <code value="3366"/>
        <display value="Non-syndromic metopic craniosynostosis"/>
      </concept>
      <concept>
        <code value="3368"/>
        <display value="Trigonocephaly-bifid nose-acral anomalies syndrome"/>
      </concept>
      <concept>
        <code value="3369"/>
        <display
                 value="Trigonocephaly-short stature-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="3374"/>
        <display value="Unilateral ocular duplication"/>
      </concept>
      <concept>
        <code value="3375"/>
        <display value="Trisomy X"/>
      </concept>
      <concept>
        <code value="3376"/>
        <display value="Triploidy"/>
      </concept>
      <concept>
        <code value="3377"/>
        <display value="Trismus-pseudocamptodactyly syndrome"/>
      </concept>
      <concept>
        <code value="3378"/>
        <display value="Trisomy 13"/>
      </concept>
      <concept>
        <code value="3379"/>
        <display value="Distal duplication 17q"/>
      </concept>
      <concept>
        <code value="3380"/>
        <display value="Trisomy 18"/>
      </concept>
      <concept>
        <code value="3383"/>
        <display value="Humerus trochlea aplasia"/>
      </concept>
      <concept>
        <code value="3384"/>
        <display value="Common arterial trunk"/>
      </concept>
      <concept>
        <code value="3385"/>
        <display value="African trypanosomiasis"/>
      </concept>
      <concept>
        <code value="3386"/>
        <display value="American trypanosomiasis"/>
      </concept>
      <concept>
        <code value="3387"/>
        <display value="Isolated anterior cervical hypertrichosis"/>
      </concept>
      <concept>
        <code value="3392"/>
        <display value="Tularemia"/>
      </concept>
      <concept>
        <code value="3400"/>
        <display value="Aorto-ventricular tunnel"/>
      </concept>
      <concept>
        <code value="3402"/>
        <display value="Transient tyrosinemia of the newborn"/>
      </concept>
      <concept>
        <code value="3403"/>
        <display value="Uhl anomaly"/>
      </concept>
      <concept>
        <code value="3404"/>
        <display value="Ulbright-Hodes syndrome"/>
      </concept>
      <concept>
        <code value="3405"/>
        <display
                 value="Umbilical cord ulceration-intestinal atresia syndrome"/>
      </concept>
      <concept>
        <code value="3406"/>
        <display value="Ulerythema ophryogenesis"/>
      </concept>
      <concept>
        <code value="3408"/>
        <display value="Upington disease"/>
      </concept>
      <concept>
        <code value="3409"/>
        <display value="Urban-Rogers-Meyer syndrome"/>
      </concept>
      <concept>
        <code value="3411"/>
        <display value="Double uterus-hemivagina-renal agenesis syndrome"/>
      </concept>
      <concept>
        <code value="3412"/>
        <display value="VACTERL with hydrocephalus"/>
      </concept>
      <concept>
        <code value="3416"/>
        <display value="Hyperostosis corticalis generalisata"/>
      </concept>
      <concept>
        <code value="3417"/>
        <display value="Van den Bosch syndrome"/>
      </concept>
      <concept>
        <code value="3424"/>
        <display value="Velo-facial-skeletal syndrome"/>
      </concept>
      <concept>
        <code value="3426"/>
        <display value="Double outlet right ventricle"/>
      </concept>
      <concept>
        <code value="3427"/>
        <display value="Double outlet left ventricle"/>
      </concept>
      <concept>
        <code value="3429"/>
        <display value="Verloove Vanhorick-Brubakk syndrome"/>
      </concept>
      <concept>
        <code value="3433"/>
        <display value="Microcephaly-brachydactyly-kyphoscoliosis syndrome"/>
      </concept>
      <concept>
        <code value="3434"/>
        <display value="MMEP syndrome"/>
      </concept>
      <concept>
        <code value="3437"/>
        <display value="Vogt-Koyanagi-Harada disease"/>
      </concept>
      <concept>
        <code value="3439"/>
        <display value="Von Voss-Cherstvoy syndrome"/>
      </concept>
      <concept>
        <code value="3440"/>
        <display value="Waardenburg syndrome"/>
      </concept>
      <concept>
        <code value="3447"/>
        <display value="Weaver syndrome"/>
      </concept>
      <concept>
        <code value="3448"/>
        <display value="Weaver-Williams syndrome"/>
      </concept>
      <concept>
        <code value="3449"/>
        <display value="Weill-Marchesani syndrome"/>
      </concept>
      <concept>
        <code value="3451"/>
        <display value="Infantile spasms syndrome"/>
      </concept>
      <concept>
        <code value="3452"/>
        <display value="Whipple disease"/>
      </concept>
      <concept>
        <code value="3453"/>
        <display value="Autoimmune polyendocrinopathy type 1"/>
      </concept>
      <concept>
        <code value="3454"/>
        <display
                 value="Intellectual disability-developmental delay-contractures syndrome"/>
      </concept>
      <concept>
        <code value="3455"/>
        <display value="Wiedemann-Rautenstrauch syndrome"/>
      </concept>
      <concept>
        <code value="3456"/>
        <display value="Wildervanck syndrome"/>
      </concept>
      <concept>
        <code value="3459"/>
        <display value="Wilson-Turner syndrome"/>
      </concept>
      <concept>
        <code value="3463"/>
        <display value="Wolfram syndrome"/>
      </concept>
      <concept>
        <code value="3464"/>
        <display value="Woodhouse-Sakati syndrome"/>
      </concept>
      <concept>
        <code value="3465"/>
        <display value="Worster-Drought syndrome"/>
      </concept>
      <concept>
        <code value="3466"/>
        <display value="WT limb-blood syndrome"/>
      </concept>
      <concept>
        <code value="3467"/>
        <display value="Hereditary xanthinuria"/>
      </concept>
      <concept>
        <code value="3469"/>
        <display value="XK aprosencephaly syndrome"/>
      </concept>
      <concept>
        <code value="3471"/>
        <display value="Young syndrome"/>
      </concept>
      <concept>
        <code value="3472"/>
        <display value="Yunis-Varon syndrome"/>
      </concept>
      <concept>
        <code value="3473"/>
        <display value="Zimmermann-Laband syndrome"/>
      </concept>
      <concept>
        <code value="3474"/>
        <display value="CHIME syndrome"/>
      </concept>
      <concept>
        <code value="25968"/>
        <display value="Benign occipital epilepsy"/>
      </concept>
      <concept>
        <code value="25980"/>
        <display value="X-linked myopathy with excessive autophagy"/>
      </concept>
      <concept>
        <code value="26106"/>
        <display value="Hereditary diffuse gastric cancer"/>
      </concept>
      <concept>
        <code value="26137"/>
        <display value="Juvenile temporal arteritis"/>
      </concept>
      <concept>
        <code value="26348"/>
        <display value="Acquired prothrombin deficiency"/>
      </concept>
      <concept>
        <code value="26349"/>
        <display value="Protein S acquired deficiency"/>
      </concept>
      <concept>
        <code value="26790"/>
        <display value="Pseudomyxoma peritonei"/>
      </concept>
      <concept>
        <code value="26791"/>
        <display value="Multiple acyl-CoA dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="26792"/>
        <display value="Short chain acyl-CoA dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="26793"/>
        <display value="Very long chain acyl-CoA dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="28378"/>
        <display value="Tyrosinemia type 2"/>
      </concept>
      <concept>
        <code value="29072"/>
        <display value="Hereditary pheochromocytoma-paraganglioma"/>
      </concept>
      <concept>
        <code value="29073"/>
        <display value="Multiple myeloma"/>
      </concept>
      <concept>
        <code value="29207"/>
        <display value="Reactive arthritis"/>
      </concept>
      <concept>
        <code value="29822"/>
        <display value="Spontaneous periodic hypothermia"/>
      </concept>
      <concept>
        <code value="30391"/>
        <display value="Isolated biliary atresia"/>
      </concept>
      <concept>
        <code value="30924"/>
        <display value="Primary hypomagnesemia with secondary hypocalcemia"/>
      </concept>
      <concept>
        <code value="30925"/>
        <display value="Hereditary arginine vasopressin deficiency"/>
      </concept>
      <concept>
        <code value="31043"/>
        <display
                 value="Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement"/>
      </concept>
      <concept>
        <code value="31112"/>
        <display value="Dermatofibrosarcoma protuberans"/>
      </concept>
      <concept>
        <code value="31150"/>
        <display value="Tangier disease"/>
      </concept>
      <concept>
        <code value="31202"/>
        <display value="Melioidosis"/>
      </concept>
      <concept>
        <code value="31204"/>
        <display value="Nocardiosis"/>
      </concept>
      <concept>
        <code value="31205"/>
        <display value="Rat-bite fever"/>
      </concept>
      <concept>
        <code value="31709"/>
        <display value="Infantile convulsions and choreoathetosis"/>
      </concept>
      <concept>
        <code value="31824"/>
        <display value="Colchicine poisoning"/>
      </concept>
      <concept>
        <code value="31825"/>
        <display value="Methanol poisoning"/>
      </concept>
      <concept>
        <code value="31826"/>
        <display value="Ethylene glycol poisoning"/>
      </concept>
      <concept>
        <code value="31827"/>
        <display value="Paraquat poisoning"/>
      </concept>
      <concept>
        <code value="31828"/>
        <display value="Digitalis poisoning"/>
      </concept>
      <concept>
        <code value="31837"/>
        <display value="Pulmonary venoocclusive disease"/>
      </concept>
      <concept>
        <code value="32960"/>
        <display
                 value="Tumor necrosis factor receptor 1 associated periodic syndrome"/>
      </concept>
      <concept>
        <code value="33001"/>
        <display value="Lymphedema-distichiasis syndrome"/>
      </concept>
      <concept>
        <code value="33067"/>
        <display value="Metaphyseal chondrodysplasia, Jansen type"/>
      </concept>
      <concept>
        <code value="33069"/>
        <display value="Dravet syndrome"/>
      </concept>
      <concept>
        <code value="33108"/>
        <display value="Lethal multiple pterygium syndrome"/>
      </concept>
      <concept>
        <code value="33110"/>
        <display value="Autosomal agammaglobulinemia"/>
      </concept>
      <concept>
        <code value="33111"/>
        <display value="Granulomatous slack skin"/>
      </concept>
      <concept>
        <code value="33208"/>
        <display value="Idiopathic hypersomnia"/>
      </concept>
      <concept>
        <code value="33226"/>
        <display value="Waldenström macroglobulinemia"/>
      </concept>
      <concept>
        <code value="33276"/>
        <display value="Kaposi sarcoma"/>
      </concept>
      <concept>
        <code value="33314"/>
        <display value="Jessner lymphocytic infiltration of the skin"/>
      </concept>
      <concept>
        <code value="33355"/>
        <display value="Reticular dysgenesis"/>
      </concept>
      <concept>
        <code value="33364"/>
        <display value="Trichothiodystrophy"/>
      </concept>
      <concept>
        <code value="33402"/>
        <display value="Pediatric hepatocellular carcinoma"/>
      </concept>
      <concept>
        <code value="33408"/>
        <display value="Bullous lichen planus"/>
      </concept>
      <concept>
        <code value="33445"/>
        <display value="Neuroectodermal melanolysosomal disease"/>
      </concept>
      <concept>
        <code value="33475"/>
        <display value="Meningococcal meningitis"/>
      </concept>
      <concept>
        <code value="33543"/>
        <display value="Kleine-Levin syndrome"/>
      </concept>
      <concept>
        <code value="33572"/>
        <display value="5-oxoprolinase deficiency"/>
      </concept>
      <concept>
        <code value="33573"/>
        <display value="Gamma-glutamyl transpeptidase deficiency"/>
      </concept>
      <concept>
        <code value="33574"/>
        <display value="Glutamate-cysteine ligase deficiency"/>
      </concept>
      <concept>
        <code value="33577"/>
        <display value="Nodular non-suppurative panniculitis"/>
      </concept>
      <concept>
        <code value="34145"/>
        <display value="Immunoglobulin A nephropathy"/>
      </concept>
      <concept>
        <code value="34149"/>
        <display
                 value="Autosomal dominant tubulointerstitial kidney disease"/>
      </concept>
      <concept>
        <code value="34217"/>
        <display value="Naxos disease"/>
      </concept>
      <concept>
        <code value="34514"/>
        <display
                 value="Telethonin-related limb-girdle muscular dystrophy R7"/>
      </concept>
      <concept>
        <code value="34515"/>
        <display value="FKRP-related limb-girdle muscular dystrophy R9"/>
      </concept>
      <concept>
        <code value="34516"/>
        <display value="DNAJB6-related limb-girdle muscular dystrophy D1"/>
      </concept>
      <concept>
        <code value="34520"/>
        <display
                 value="Congenital muscular dystrophy with integrin alpha-7 deficiency"/>
      </concept>
      <concept>
        <code value="34528"/>
        <display
                 value="Autosomal dominant primary hypomagnesemia with hypocalciuria"/>
      </concept>
      <concept>
        <code value="34587"/>
        <display value="Danon disease"/>
      </concept>
      <concept>
        <code value="34592"/>
        <display
                 value="Immunodeficiency by defective expression of MHC class I"/>
      </concept>
      <concept>
        <code value="35062"/>
        <display
                 value="Severe disseminated cytomegalovirus infection in immunocompetent patients"/>
      </concept>
      <concept>
        <code value="35063"/>
        <display value="Fulminant viral hepatitis"/>
      </concept>
      <concept>
        <code value="35069"/>
        <display value="Infantile neuroaxonal dystrophy"/>
      </concept>
      <concept>
        <code value="35078"/>
        <display
                 value="T-B+ severe combined immunodeficiency due to JAK3 deficiency"/>
      </concept>
      <concept>
        <code value="35093"/>
        <display value="Non-syndromic sagittal craniosynostosis"/>
      </concept>
      <concept>
        <code value="35099"/>
        <display value="Non-syndromic bicoronal craniosynostosis"/>
      </concept>
      <concept>
        <code value="35107"/>
        <display value="Desmosterolosis"/>
      </concept>
      <concept>
        <code value="35120"/>
        <display
                 value="Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency"/>
      </concept>
      <concept>
        <code value="35121"/>
        <display value="Lysosomal acid phosphatase deficiency"/>
      </concept>
      <concept>
        <code value="35122"/>
        <display value="Congenital sucrase-isomaltase deficiency"/>
      </concept>
      <concept>
        <code value="35125"/>
        <display value="Epidermal nevus syndrome"/>
      </concept>
      <concept>
        <code value="35173"/>
        <display value="X-linked dominant chondrodysplasia punctata"/>
      </concept>
      <concept>
        <code value="35612"/>
        <display value="Nanophthalmos"/>
      </concept>
      <concept>
        <code value="35664"/>
        <display value="ALDH18A1-related De Barsy syndrome"/>
      </concept>
      <concept>
        <code value="35686"/>
        <display value="Serpiginous choroiditis"/>
      </concept>
      <concept>
        <code value="35687"/>
        <display value="Erdheim-Chester disease"/>
      </concept>
      <concept>
        <code value="35689"/>
        <display value="Primary lateral sclerosis"/>
      </concept>
      <concept>
        <code value="35701"/>
        <display value="3-hydroxy-3-methylglutaryl-CoA synthase deficiency"/>
      </concept>
      <concept>
        <code value="35704"/>
        <display value="L-Arginine:glycine amidinotransferase deficiency"/>
      </concept>
      <concept>
        <code value="35706"/>
        <display value="Glutaric acidemia type 3"/>
      </concept>
      <concept>
        <code value="35708"/>
        <display value="Aromatic L-amino acid decarboxylase deficiency"/>
      </concept>
      <concept>
        <code value="35710"/>
        <display value="Glucose-galactose malabsorption"/>
      </concept>
      <concept>
        <code value="35737"/>
        <display value="Morning glory disc anomaly"/>
      </concept>
      <concept>
        <code value="35858"/>
        <display value="Imerslund-Gräsbeck syndrome"/>
      </concept>
      <concept>
        <code value="35878"/>
        <display value="Hyperinsulinism-hyperammonemia syndrome"/>
      </concept>
      <concept>
        <code value="35889"/>
        <display value="Acute opioid intoxication"/>
      </concept>
      <concept>
        <code value="35909"/>
        <display value="Combined deficiency of factor V and factor VIII"/>
      </concept>
      <concept>
        <code value="36234"/>
        <display value="Bacterial toxic-shock syndrome"/>
      </concept>
      <concept>
        <code value="36235"/>
        <display value="Staphylococcal scarlet fever"/>
      </concept>
      <concept>
        <code value="36236"/>
        <display value="Staphylococcal scalded skin syndrome"/>
      </concept>
      <concept>
        <code value="36237"/>
        <display value="Bullous impetigo"/>
      </concept>
      <concept>
        <code value="36238"/>
        <display value="Staphylococcal necrotizing pneumonia"/>
      </concept>
      <concept>
        <code value="36258"/>
        <display value="Buerger disease"/>
      </concept>
      <concept>
        <code value="36273"/>
        <display value="Gastric linitis plastica"/>
      </concept>
      <concept>
        <code value="36355"/>
        <display value="Bleeding disorder due to P2Y12 defect"/>
      </concept>
      <concept>
        <code value="36367"/>
        <display value="Distal deletion 1q"/>
      </concept>
      <concept>
        <code value="36382"/>
        <display value="Familial cervical artery dissection"/>
      </concept>
      <concept>
        <code value="36383"/>
        <display
                 value="COL4A1/2-related familial vascular leukoencephalopathy"/>
      </concept>
      <concept>
        <code value="36386"/>
        <display value="Hereditary sensory and autonomic neuropathy type 1"/>
      </concept>
      <concept>
        <code value="36387"/>
        <display value="Generalized epilepsy with febrile seizures-plus"/>
      </concept>
      <concept>
        <code value="36397"/>
        <display value="Adiposis dolorosa"/>
      </concept>
      <concept>
        <code value="36412"/>
        <display value="Hypocomplementemic urticarial vasculitis"/>
      </concept>
      <concept>
        <code value="36426"/>
        <display value="Stevens-Johnson syndrome"/>
      </concept>
      <concept>
        <code value="36899"/>
        <display value="Myoclonus-dystonia syndrome"/>
      </concept>
      <concept>
        <code value="36913"/>
        <display value="Autoimmune hypoparathyroidism"/>
      </concept>
      <concept>
        <code value="37042"/>
        <display
                 value="Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"/>
      </concept>
      <concept>
        <code value="37202"/>
        <display value="Interstitial cystitis"/>
      </concept>
      <concept>
        <code value="37553"/>
        <display value="Andersen-Tawil syndrome"/>
      </concept>
      <concept>
        <code value="37559"/>
        <display value="Acquired kinky hair syndrome"/>
      </concept>
      <concept>
        <code value="37612"/>
        <display value="Episodic ataxia type 1"/>
      </concept>
      <concept>
        <code value="37748"/>
        <display value="Schnitzler syndrome"/>
      </concept>
      <concept>
        <code value="38874"/>
        <display value="Dihydropyrimidinuria"/>
      </concept>
      <concept>
        <code value="39041"/>
        <display value="Omenn syndrome"/>
      </concept>
      <concept>
        <code value="39044"/>
        <display value="Uveal melanoma"/>
      </concept>
      <concept>
        <code value="39812"/>
        <display value="Graft versus host disease"/>
      </concept>
      <concept>
        <code value="40366"/>
        <display value="Acitretin/etretinate embryopathy"/>
      </concept>
      <concept>
        <code value="40923"/>
        <display value="Eales disease"/>
      </concept>
      <concept>
        <code value="41751"/>
        <display value="Bietti crystalline dystrophy"/>
      </concept>
      <concept>
        <code value="42062"/>
        <display value="Iminoglycinuria"/>
      </concept>
      <concept>
        <code value="42642"/>
        <display value="PFAPA syndrome"/>
      </concept>
      <concept>
        <code value="42665"/>
        <display value="Tietz syndrome"/>
      </concept>
      <concept>
        <code value="42775"/>
        <display value="PHACE syndrome"/>
      </concept>
      <concept>
        <code value="43115"/>
        <display
                 value="Hereditary myopathy with lactic acidosis due to ISCU deficiency"/>
      </concept>
      <concept>
        <code value="43116"/>
        <display value="Serotonin syndrome"/>
      </concept>
      <concept>
        <code value="43117"/>
        <display value="Acute tricyclic antidepressant poisoning"/>
      </concept>
      <concept>
        <code value="43119"/>
        <display
                 value="Acute poisoning by drugs with membrane-stabilizing effect"/>
      </concept>
      <concept>
        <code value="43393"/>
        <display value="Lambert-Eaton myasthenic syndrome"/>
      </concept>
      <concept>
        <code value="44890"/>
        <display value="Gastrointestinal stromal tumor"/>
      </concept>
      <concept>
        <code value="45358"/>
        <display value="Congenital fibrosis of extraocular muscles"/>
      </concept>
      <concept>
        <code value="45448"/>
        <display value="Miyoshi myopathy"/>
      </concept>
      <concept>
        <code value="45452"/>
        <display value="Idiopathic neonatal atrial flutter"/>
      </concept>
      <concept>
        <code value="45453"/>
        <display value="Incessant infant ventricular tachycardia"/>
      </concept>
      <concept>
        <code value="46059"/>
        <display value="Lathosterolosis"/>
      </concept>
      <concept>
        <code value="46135"/>
        <display value="Primary central nervous system lymphoma"/>
      </concept>
      <concept>
        <code value="46348"/>
        <display value="Paroxysmal extreme pain disorder"/>
      </concept>
      <concept>
        <code value="46486"/>
        <display value="Mucous membrane pemphigoid"/>
      </concept>
      <concept>
        <code value="46487"/>
        <display value="Epidermolysis bullosa acquisita"/>
      </concept>
      <concept>
        <code value="46488"/>
        <display value="Linear IgA dermatosis"/>
      </concept>
      <concept>
        <code value="46532"/>
        <display
                 value="Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"/>
      </concept>
      <concept>
        <code value="46627"/>
        <display value="Char syndrome"/>
      </concept>
      <concept>
        <code value="46724"/>
        <display value="Cerebral arteriovenous malformation"/>
      </concept>
      <concept>
        <code value="47044"/>
        <display value="Hereditary papillary renal cell carcinoma"/>
      </concept>
      <concept>
        <code value="47045"/>
        <display value="Familial cold urticaria"/>
      </concept>
      <concept>
        <code value="47159"/>
        <display value="Proximal renal tubular acidosis"/>
      </concept>
      <concept>
        <code value="47612"/>
        <display value="Felty syndrome"/>
      </concept>
      <concept>
        <code value="48104"/>
        <display value="Pyoderma gangrenosum"/>
      </concept>
      <concept>
        <code value="48162"/>
        <display value="Lewis-Sumner syndrome"/>
      </concept>
      <concept>
        <code value="48372"/>
        <display value="Nodular regenerative hyperplasia of the liver"/>
      </concept>
      <concept>
        <code value="48377"/>
        <display value="Subcorneal pustular dermatosis"/>
      </concept>
      <concept>
        <code value="48431"/>
        <display
                 value="Congenital cataracts-facial dysmorphism-neuropathy syndrome"/>
      </concept>
      <concept>
        <code value="48435"/>
        <display value="Postinfectious vasculitis"/>
      </concept>
      <concept>
        <code value="48652"/>
        <display value="Phelan-McDermid syndrome"/>
      </concept>
      <concept>
        <code value="48686"/>
        <display value="Primary effusion lymphoma"/>
      </concept>
      <concept>
        <code value="48736"/>
        <display value="Embryonal carcinoma of the central nervous system"/>
      </concept>
      <concept>
        <code value="48818"/>
        <display value="Aceruloplasminemia"/>
      </concept>
      <concept>
        <code value="48918"/>
        <display value="Focal myositis"/>
      </concept>
      <concept>
        <code value="49041"/>
        <display value="IgG4-related retroperitoneal fibrosis"/>
      </concept>
      <concept>
        <code value="49042"/>
        <display value="Dentinogenesis imperfecta"/>
      </concept>
      <concept>
        <code value="49382"/>
        <display value="Achromatopsia"/>
      </concept>
      <concept>
        <code value="49566"/>
        <display value="Acquired purpura fulminans"/>
      </concept>
      <concept>
        <code value="49804"/>
        <display value="Lichen amyloidosis"/>
      </concept>
      <concept>
        <code value="49827"/>
        <display value="Thiamine-responsive megaloblastic anemia syndrome"/>
      </concept>
      <concept>
        <code value="50251"/>
        <display value="Pleural mesothelioma"/>
      </concept>
      <concept>
        <code value="50809"/>
        <display value="Talo-patello-scaphoid osteolysis"/>
      </concept>
      <concept>
        <code value="50810"/>
        <display value="Microlissencephaly-micromelia syndrome"/>
      </concept>
      <concept>
        <code value="50811"/>
        <display
                 value="Lipodystrophy-intellectual disability-deafness syndrome"/>
      </concept>
      <concept>
        <code value="50812"/>
        <display
                 value="Zellweger-like syndrome without peroxisomal anomalies"/>
      </concept>
      <concept>
        <code value="50814"/>
        <display value="Craniolenticulosutural dysplasia"/>
      </concept>
      <concept>
        <code value="50815"/>
        <display value="Branchiogenic deafness syndrome"/>
      </concept>
      <concept>
        <code value="50817"/>
        <display value="Duane anomaly-myopathy-scoliosis syndrome"/>
      </concept>
      <concept>
        <code value="50839"/>
        <display value="Cat-scratch disease"/>
      </concept>
      <concept>
        <code value="50918"/>
        <display value="Kikuchi-Fujimoto disease"/>
      </concept>
      <concept>
        <code value="50942"/>
        <display value="Striate palmoplantar keratoderma"/>
      </concept>
      <concept>
        <code value="50943"/>
        <display value="Keratolytic winter erythema"/>
      </concept>
      <concept>
        <code value="50944"/>
        <display value="Schöpf-Schulz-Passarge syndrome"/>
      </concept>
      <concept>
        <code value="50945"/>
        <display value="Blomstrand lethal chondrodysplasia"/>
      </concept>
      <concept>
        <code value="51083"/>
        <display value="Familial short QT syndrome"/>
      </concept>
      <concept>
        <code value="51084"/>
        <display
                 value="Torsade-de-pointes syndrome with short coupling interval"/>
      </concept>
      <concept>
        <code value="51188"/>
        <display value="Ethylmalonic encephalopathy"/>
      </concept>
      <concept>
        <code value="51208"/>
        <display value="Formiminoglutamic aciduria"/>
      </concept>
      <concept>
        <code value="51608"/>
        <display value="Generalized arterial calcification of infancy"/>
      </concept>
      <concept>
        <code value="51636"/>
        <display value="WHIM syndrome"/>
      </concept>
      <concept>
        <code value="51890"/>
        <display value="Anterior cutaneous nerve entrapment syndrome"/>
      </concept>
      <concept>
        <code value="52022"/>
        <display value="Potocki-Shaffer syndrome"/>
      </concept>
      <concept>
        <code value="52047"/>
        <display value="Braddock syndrome"/>
      </concept>
      <concept>
        <code value="52054"/>
        <display
                 value="Craniosynostosis-intracranial calcifications syndrome"/>
      </concept>
      <concept>
        <code value="52055"/>
        <display
                 value="Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"/>
      </concept>
      <concept>
        <code value="52056"/>
        <display value="Ulnar/fibula ray defect-brachydactyly syndrome"/>
      </concept>
      <concept>
        <code value="52368"/>
        <display value="Mohr-Tranebjaerg syndrome"/>
      </concept>
      <concept>
        <code value="52416"/>
        <display value="Mantle cell lymphoma"/>
      </concept>
      <concept>
        <code value="52417"/>
        <display value="MALT lymphoma"/>
      </concept>
      <concept>
        <code value="52427"/>
        <display value="Retinitis punctata albescens"/>
      </concept>
      <concept>
        <code value="52429"/>
        <display value="Branchiootic syndrome"/>
      </concept>
      <concept>
        <code value="52430"/>
        <display
                 value="Inclusion body myopathy with Paget disease of bone and frontotemporal dementia"/>
      </concept>
      <concept>
        <code value="52503"/>
        <display value="X-linked creatine transporter deficiency"/>
      </concept>
      <concept>
        <code value="52530"/>
        <display value="Pseudo-von Willebrand disease"/>
      </concept>
      <concept>
        <code value="52901"/>
        <display value="Isolated follicle stimulating hormone deficiency"/>
      </concept>
      <concept>
        <code value="52994"/>
        <display value="Orbital leiomyoma"/>
      </concept>
      <concept>
        <code value="53035"/>
        <display value="Caroli disease"/>
      </concept>
      <concept>
        <code value="53271"/>
        <display value="Muenke syndrome"/>
      </concept>
      <concept>
        <code value="53296"/>
        <display value="Familial cutaneous collagenoma"/>
      </concept>
      <concept>
        <code value="53347"/>
        <display value="Brody myopathy"/>
      </concept>
      <concept>
        <code value="53351"/>
        <display value="X-linked dystonia-parkinsonism"/>
      </concept>
      <concept>
        <code value="53372"/>
        <display value="Hereditary geniospasm"/>
      </concept>
      <concept>
        <code value="53540"/>
        <display value="Goldmann-Favre syndrome"/>
      </concept>
      <concept>
        <code value="53583"/>
        <display
                 value="Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity"/>
      </concept>
      <concept>
        <code value="53689"/>
        <display value="Congenital chloride diarrhea"/>
      </concept>
      <concept>
        <code value="53690"/>
        <display value="Congenital lactase deficiency"/>
      </concept>
      <concept>
        <code value="53691"/>
        <display value="Congenital cornea plana"/>
      </concept>
      <concept>
        <code value="53693"/>
        <display value="GRACILE syndrome"/>
      </concept>
      <concept>
        <code value="53696"/>
        <display value="Arthrogryposis-anterior horn cell disease syndrome"/>
      </concept>
      <concept>
        <code value="53697"/>
        <display value="Gnathodiaphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="53698"/>
        <display value="Myosin storage myopathy"/>
      </concept>
      <concept>
        <code value="53715"/>
        <display value="Familial tumoral calcinosis"/>
      </concept>
      <concept>
        <code value="53719"/>
        <display value="Wyburn-Mason syndrome"/>
      </concept>
      <concept>
        <code value="53721"/>
        <display value="Spinal arteriovenous metameric syndrome"/>
      </concept>
      <concept>
        <code value="54028"/>
        <display value="Plummer-Vinson syndrome"/>
      </concept>
      <concept>
        <code value="54057"/>
        <display value="Thrombotic thrombocytopenic purpura"/>
      </concept>
      <concept>
        <code value="54247"/>
        <display value="Posterior cortical atrophy"/>
      </concept>
      <concept>
        <code value="54251"/>
        <display value="Aseptic abscess syndrome"/>
      </concept>
      <concept>
        <code value="54260"/>
        <display value="Left ventricular noncompaction"/>
      </concept>
      <concept>
        <code value="54272"/>
        <display value="Hepatocellular adenoma"/>
      </concept>
      <concept>
        <code value="54368"/>
        <display value="Sarcocystosis"/>
      </concept>
      <concept>
        <code value="54370"/>
        <display value="Primary membranoproliferative glomerulonephritis"/>
      </concept>
      <concept>
        <code value="54595"/>
        <display value="Craniopharyngioma"/>
      </concept>
      <concept>
        <code value="55595"/>
        <display value="TNP03-related limb-girdle muscular dystrophy D2"/>
      </concept>
      <concept>
        <code value="55596"/>
        <display value="HNRNPDL-related limb-girdle muscular dystrophy D3"/>
      </concept>
      <concept>
        <code value="55654"/>
        <display value="Hypotrichosis simplex"/>
      </concept>
      <concept>
        <code value="55655"/>
        <display value="Pneumococcal meningitis"/>
      </concept>
      <concept>
        <code value="55880"/>
        <display value="Chondrosarcoma"/>
      </concept>
      <concept>
        <code value="55881"/>
        <display value="Adamantinoma"/>
      </concept>
      <concept>
        <code value="56304"/>
        <display value="Atelosteogenesis type II"/>
      </concept>
      <concept>
        <code value="56305"/>
        <display value="Atelosteogenesis type III"/>
      </concept>
      <concept>
        <code value="56425"/>
        <display value="Cold agglutinin disease"/>
      </concept>
      <concept>
        <code value="57145"/>
        <display value="SUNCT syndrome"/>
      </concept>
      <concept>
        <code value="57196"/>
        <display value="Medial condensing osteitis of the clavicle"/>
      </concept>
      <concept>
        <code value="57777"/>
        <display value="Cirrhotic cardiomyopathy"/>
      </concept>
      <concept>
        <code value="57782"/>
        <display value="Mazabraud syndrome"/>
      </concept>
      <concept>
        <code value="58017"/>
        <display value="Classic hairy cell leukemia"/>
      </concept>
      <concept>
        <code value="58040"/>
        <display value="Osteoblastoma"/>
      </concept>
      <concept>
        <code value="59135"/>
        <display value="Laing early-onset distal myopathy"/>
      </concept>
      <concept>
        <code value="59181"/>
        <display value="Sorsby pseudoinflammatory fundus dystrophy"/>
      </concept>
      <concept>
        <code value="59298"/>
        <display value="Schilder disease"/>
      </concept>
      <concept>
        <code value="59303"/>
        <display value="Neonatal ichthyosis-sclerosing cholangitis syndrome"/>
      </concept>
      <concept>
        <code value="59306"/>
        <display value="McLeod neuroacanthocytosis syndrome"/>
      </concept>
      <concept>
        <code value="59315"/>
        <display value="Rhombencephalosynapsis"/>
      </concept>
      <concept>
        <code value="60014"/>
        <display value="Argyria"/>
      </concept>
      <concept>
        <code value="60015"/>
        <display value="Enlarged parietal foramina"/>
      </concept>
      <concept>
        <code value="60025"/>
        <display value="Pulmonary alveolar microlithiasis"/>
      </concept>
      <concept>
        <code value="60026"/>
        <display value="Pulmonary nodular lymphoid hyperplasia"/>
      </concept>
      <concept>
        <code value="60030"/>
        <display value="Loeys-Dietz syndrome"/>
      </concept>
      <concept>
        <code value="60032"/>
        <display value="Recurrent respiratory papillomatosis"/>
      </concept>
      <concept>
        <code value="60033"/>
        <display value="Idiopathic bronchiectasis"/>
      </concept>
      <concept>
        <code value="60039"/>
        <display value="Pudendal nerve entrapment syndrome"/>
      </concept>
      <concept>
        <code value="60040"/>
        <display
                 value="Megalencephaly-capillary malformation-polymicrogyria syndrome"/>
      </concept>
      <concept>
        <code value="60041"/>
        <display value="Congenital heart block"/>
      </concept>
      <concept>
        <code value="63259"/>
        <display value="Iniencephaly"/>
      </concept>
      <concept>
        <code value="63260"/>
        <display value="Craniorachischisis"/>
      </concept>
      <concept>
        <code value="63269"/>
        <display
                 value="Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis"/>
      </concept>
      <concept>
        <code value="63273"/>
        <display
                 value="Distal myopathy with posterior leg and anterior hand involvement"/>
      </concept>
      <concept>
        <code value="63275"/>
        <display value="Pemphigoid gestationis"/>
      </concept>
      <concept>
        <code value="63442"/>
        <display value="Angel-shaped phalango-epiphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="63446"/>
        <display value="Acrocapitofemoral dysplasia"/>
      </concept>
      <concept>
        <code value="63455"/>
        <display value="Paraneoplastic pemphigus"/>
      </concept>
      <concept>
        <code value="63862"/>
        <display value="Schisis association"/>
      </concept>
      <concept>
        <code value="63999"/>
        <display value="IgG4-related mediastinitis"/>
      </concept>
      <concept>
        <code value="64280"/>
        <display value="Childhood absence epilepsy"/>
      </concept>
      <concept>
        <code value="64542"/>
        <display value="Acrofacial dysostosis, Kennedy-Teebi type"/>
      </concept>
      <concept>
        <code value="64545"/>
        <display value="Benign idiopathic neonatal seizures"/>
      </concept>
      <concept>
        <code value="64686"/>
        <display value="Tolosa-Hunt syndrome"/>
      </concept>
      <concept>
        <code value="64692"/>
        <display value="Bartonella bacilliformis infection"/>
      </concept>
      <concept>
        <code value="64694"/>
        <display value="Trench fever"/>
      </concept>
      <concept>
        <code value="64720"/>
        <display value="Leiomyosarcoma"/>
      </concept>
      <concept>
        <code value="64722"/>
        <display value="Granulomatous mastitis"/>
      </concept>
      <concept>
        <code value="64734"/>
        <display value="Iridocorneal endothelial syndrome"/>
      </concept>
      <concept>
        <code value="64739"/>
        <display value="Ovarian hyperstimulation syndrome"/>
      </concept>
      <concept>
        <code value="64741"/>
        <display value="Pulmonary blastoma"/>
      </concept>
      <concept>
        <code value="64742"/>
        <display value="Pleuropulmonary blastoma"/>
      </concept>
      <concept>
        <code value="64743"/>
        <display value="Hepatoportal sclerosis"/>
      </concept>
      <concept>
        <code value="64744"/>
        <display value="IgG4-related thyroid disease"/>
      </concept>
      <concept>
        <code value="64745"/>
        <display
                 value="Pruritic urticarial papules and plaques of pregnancy"/>
      </concept>
      <concept>
        <code value="64748"/>
        <display value="Dejerine-Sottas syndrome"/>
      </concept>
      <concept>
        <code value="64751"/>
        <display value="Hereditary motor and sensory neuropathy type 5"/>
      </concept>
      <concept>
        <code value="64752"/>
        <display value="Hereditary sensory and autonomic neuropathy type 5"/>
      </concept>
      <concept>
        <code value="64753"/>
        <display
                 value="Spinocerebellar ataxia with axonal neuropathy type 2"/>
      </concept>
      <concept>
        <code value="64754"/>
        <display value="Nevus comedonicus syndrome"/>
      </concept>
      <concept>
        <code value="64755"/>
        <display value="Becker nevus syndrome"/>
      </concept>
      <concept>
        <code value="65282"/>
        <display value="Carvajal syndrome"/>
      </concept>
      <concept>
        <code value="65283"/>
        <display value="Timothy syndrome"/>
      </concept>
      <concept>
        <code value="65284"/>
        <display value="Biotin-thiamine-responsive basal ganglia disease"/>
      </concept>
      <concept>
        <code value="65285"/>
        <display value="Lhermitte-Duclos disease"/>
      </concept>
      <concept>
        <code value="65286"/>
        <display value="3q29 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="65287"/>
        <display value="Beta-ureidopropionase deficiency"/>
      </concept>
      <concept>
        <code value="65288"/>
        <display
                 value="Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"/>
      </concept>
      <concept>
        <code value="65681"/>
        <display value="Vaginal atresia"/>
      </concept>
      <concept>
        <code value="65682"/>
        <display value="Benign recurrent intrahepatic cholestasis"/>
      </concept>
      <concept>
        <code value="65683"/>
        <display value="Isolated focal cortical dysplasia"/>
      </concept>
      <concept>
        <code value="65684"/>
        <display value="Monomelic amyotrophy"/>
      </concept>
      <concept>
        <code value="65720"/>
        <display value="Arthrogryposis-severe scoliosis syndrome"/>
      </concept>
      <concept>
        <code value="65743"/>
        <display value="Autosomal dominant multiple pterygium syndrome"/>
      </concept>
      <concept>
        <code value="65748"/>
        <display value="Multiple self-healing squamous epithelioma"/>
      </concept>
      <concept>
        <code value="65759"/>
        <display value="Carpenter syndrome"/>
      </concept>
      <concept>
        <code value="66518"/>
        <display value="Short fifth metacarpals-insulin resistance syndrome"/>
      </concept>
      <concept>
        <code value="66529"/>
        <display value="Tako-Tsubo cardiomyopathy"/>
      </concept>
      <concept>
        <code value="66624"/>
        <display value="PANDAS"/>
      </concept>
      <concept>
        <code value="66625"/>
        <display value="Cerebrooculonasal syndrome"/>
      </concept>
      <concept>
        <code value="66627"/>
        <display value="Tenosynovial giant cell tumor"/>
      </concept>
      <concept>
        <code value="66628"/>
        <display value="Obesity due to congenital leptin deficiency"/>
      </concept>
      <concept>
        <code value="66629"/>
        <display value="Goldberg-Shprintzen megacolon syndrome"/>
      </concept>
      <concept>
        <code value="66630"/>
        <display value="Congenital pseudoarthrosis of the clavicle"/>
      </concept>
      <concept>
        <code value="66631"/>
        <display value="CEDNIK syndrome"/>
      </concept>
      <concept>
        <code value="66633"/>
        <display
                 value="Sensorineural hearing loss-early graying-essential tremor syndrome"/>
      </concept>
      <concept>
        <code value="66634"/>
        <display value="Dilated cardiomyopathy with ataxia"/>
      </concept>
      <concept>
        <code value="66637"/>
        <display value="Diaphanospondylodysostosis"/>
      </concept>
      <concept>
        <code value="66661"/>
        <display value="Mast cell sarcoma"/>
      </concept>
      <concept>
        <code value="66662"/>
        <display value="Extracutaneous mastocytoma"/>
      </concept>
      <concept>
        <code value="67036"/>
        <display value="Autosomal dominant optic atrophy and cataract"/>
      </concept>
      <concept>
        <code value="67038"/>
        <display value="B-cell chronic lymphocytic leukemia"/>
      </concept>
      <concept>
        <code value="67039"/>
        <display value="Segmental odontomaxillary dysplasia"/>
      </concept>
      <concept>
        <code value="67041"/>
        <display value="Hyaluronidase deficiency"/>
      </concept>
      <concept>
        <code value="67042"/>
        <display value="Late-onset retinal degeneration"/>
      </concept>
      <concept>
        <code value="67043"/>
        <display value="Amoebic keratitis"/>
      </concept>
      <concept>
        <code value="67044"/>
        <display
                 value="Thrombocytopenia with congenital dyserythropoietic anemia"/>
      </concept>
      <concept>
        <code value="67045"/>
        <display
                 value="X-linked intellectual disability with isolated growth hormone deficiency"/>
      </concept>
      <concept>
        <code value="67046"/>
        <display value="3-methylglutaconic aciduria type 1"/>
      </concept>
      <concept>
        <code value="67047"/>
        <display value="3-methylglutaconic aciduria type 3"/>
      </concept>
      <concept>
        <code value="67048"/>
        <display value="3-methylglutaconic aciduria type 4"/>
      </concept>
      <concept>
        <code value="69061"/>
        <display value="Idiopathic steroid-sensitive nephrotic syndrome"/>
      </concept>
      <concept>
        <code value="69063"/>
        <display
                 value="Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization"/>
      </concept>
      <concept>
        <code value="69076"/>
        <display value="Familial renal glucosuria"/>
      </concept>
      <concept>
        <code value="69077"/>
        <display value="Rhabdoid tumor"/>
      </concept>
      <concept>
        <code value="69078"/>
        <display value="Liposarcoma"/>
      </concept>
      <concept>
        <code value="69082"/>
        <display value="Odonto-tricho-ungual-digito-palmar syndrome"/>
      </concept>
      <concept>
        <code value="69083"/>
        <display
                 value="Ectodermal dysplasia with natal teeth, Turnpenny type"/>
      </concept>
      <concept>
        <code value="69084"/>
        <display value="Pure hair and nail ectodermal dysplasia"/>
      </concept>
      <concept>
        <code value="69085"/>
        <display value="Limb-mammary syndrome"/>
      </concept>
      <concept>
        <code value="69087"/>
        <display value="Naegeli-Franceschetti-Jadassohn syndrome"/>
      </concept>
      <concept>
        <code value="69088"/>
        <display
                 value="Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome"/>
      </concept>
      <concept>
        <code value="69125"/>
        <display value="Anonychia with flexural pigmentation"/>
      </concept>
      <concept>
        <code value="69126"/>
        <display value="PAPA syndrome"/>
      </concept>
      <concept>
        <code value="69663"/>
        <display value="Low phospholipid-associated cholelithiasis"/>
      </concept>
      <concept>
        <code value="69665"/>
        <display value="Intrahepatic cholestasis of pregnancy"/>
      </concept>
      <concept>
        <code value="69723"/>
        <display value="Tyrosinemia type 3"/>
      </concept>
      <concept>
        <code value="69735"/>
        <display
                 value="Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"/>
      </concept>
      <concept>
        <code value="69736"/>
        <display value="Bilateral acute depigmentation of the iris"/>
      </concept>
      <concept>
        <code value="69737"/>
        <display value="Bosley-Salih-Alorainy syndrome"/>
      </concept>
      <concept>
        <code value="69739"/>
        <display value="Athabaskan brainstem dysgenesis syndrome"/>
      </concept>
      <concept>
        <code value="69744"/>
        <display value="Circumscribed palmoplantar hypokeratosis"/>
      </concept>
      <concept>
        <code value="69745"/>
        <display value="Warty dyskeratoma"/>
      </concept>
      <concept>
        <code value="70472"/>
        <display
                 value="Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type"/>
      </concept>
      <concept>
        <code value="70475"/>
        <display value="Radiation proctitis"/>
      </concept>
      <concept>
        <code value="70476"/>
        <display value="Vernal keratoconjunctivitis"/>
      </concept>
      <concept>
        <code value="70567"/>
        <display value="Cholangiocarcinoma"/>
      </concept>
      <concept>
        <code value="70568"/>
        <display value="Post-transplant lymphoproliferative disease"/>
      </concept>
      <concept>
        <code value="70573"/>
        <display value="Small cell lung cancer"/>
      </concept>
      <concept>
        <code value="70578"/>
        <display value="Adult acute respiratory distress syndrome"/>
      </concept>
      <concept>
        <code value="70587"/>
        <display value="Infant acute respiratory distress syndrome"/>
      </concept>
      <concept>
        <code value="70588"/>
        <display value="Meconium aspiration syndrome"/>
      </concept>
      <concept>
        <code value="70589"/>
        <display value="Bronchopulmonary dysplasia"/>
      </concept>
      <concept>
        <code value="70590"/>
        <display value="Infantile apnea"/>
      </concept>
      <concept>
        <code value="70591"/>
        <display value="Chronic thromboembolic pulmonary hypertension"/>
      </concept>
      <concept>
        <code value="70592"/>
        <display
                 value="Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency"/>
      </concept>
      <concept>
        <code value="70593"/>
        <display
                 value="Immunodeficiency due to selective anti-polysaccharide antibody deficiency"/>
      </concept>
      <concept>
        <code value="70594"/>
        <display
                 value="Dopa-responsive dystonia due to sepiapterin reductase deficiency"/>
      </concept>
      <concept>
        <code value="70595"/>
        <display
                 value="Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"/>
      </concept>
      <concept>
        <code value="70596"/>
        <display value="Congenital Epstein-Barr virus infection"/>
      </concept>
      <concept>
        <code value="71211"/>
        <display value="Neuromyelitis optica spectrum disorder"/>
      </concept>
      <concept>
        <code value="71212"/>
        <display
                 value="Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="71213"/>
        <display value="Retinal capillary malformation"/>
      </concept>
      <concept>
        <code value="71267"/>
        <display
                 value="Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="71271"/>
        <display value="Split hand-split foot-deafness syndrome"/>
      </concept>
      <concept>
        <code value="71272"/>
        <display value="Sandifer syndrome"/>
      </concept>
      <concept>
        <code value="71273"/>
        <display value="Renal nutcracker syndrome"/>
      </concept>
      <concept>
        <code value="71274"/>
        <display value="Disseminated peritoneal leiomyomatosis"/>
      </concept>
      <concept>
        <code value="71275"/>
        <display value="Rh deficiency syndrome"/>
      </concept>
      <concept>
        <code value="71276"/>
        <display value="Silent sinus syndrome"/>
      </concept>
      <concept>
        <code value="71277"/>
        <display
                 value="Classic glucose transporter type 1 deficiency syndrome"/>
      </concept>
      <concept>
        <code value="71278"/>
        <display
                 value="Congenital brain dysgenesis due to glutamine synthetase deficiency"/>
      </concept>
      <concept>
        <code value="71279"/>
        <display value="CANOMAD syndrome"/>
      </concept>
      <concept>
        <code value="71289"/>
        <display
                 value="Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"/>
      </concept>
      <concept>
        <code value="71290"/>
        <display
                 value="Familial platelet disorder with associated myeloid malignancy"/>
      </concept>
      <concept>
        <code value="71493"/>
        <display value="Familial thrombocytosis"/>
      </concept>
      <concept>
        <code value="71505"/>
        <display value="Cancer-associated retinopathy"/>
      </concept>
      <concept>
        <code value="71517"/>
        <display value="Rapid-onset dystonia-parkinsonism"/>
      </concept>
      <concept>
        <code value="71518"/>
        <display value="Benign paroxysmal torticollis of infancy"/>
      </concept>
      <concept>
        <code value="71519"/>
        <display value="Psychogenic movement disorders"/>
      </concept>
      <concept>
        <code value="71526"/>
        <display value="Obesity due to pro-opiomelanocortin deficiency"/>
      </concept>
      <concept>
        <code value="71528"/>
        <display value="Obesity due to prohormone convertase I deficiency"/>
      </concept>
      <concept>
        <code value="71529"/>
        <display value="Obesity due to melanocortin 4 receptor deficiency"/>
      </concept>
      <concept>
        <code value="73223"/>
        <display
                 value="Global developmental delay-osteopenia-ectodermal defect syndrome"/>
      </concept>
      <concept>
        <code value="73224"/>
        <display value="Kidney tubulopathy-dilated cardiomyopathy syndrome"/>
      </concept>
      <concept>
        <code value="73229"/>
        <display value="HANAC syndrome"/>
      </concept>
      <concept>
        <code value="73230"/>
        <display
                 value="Ossification anomalies-psychomotor developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="73245"/>
        <display
                 value="Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome"/>
      </concept>
      <concept>
        <code value="73246"/>
        <display
                 value="Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="73256"/>
        <display value="Central neurocytoma"/>
      </concept>
      <concept>
        <code value="73260"/>
        <display value="Paracoccidioidomycosis"/>
      </concept>
      <concept>
        <code value="73263"/>
        <display value="Zygomycosis"/>
      </concept>
      <concept>
        <code value="73267"/>
        <display value="Non-24-hour sleep-wake syndrome"/>
      </concept>
      <concept>
        <code value="73271"/>
        <display
                 value="Bleeding diathesis due to a collagen receptor defect"/>
      </concept>
      <concept>
        <code value="73272"/>
        <display
                 value="Growth delay due to insulin-like growth factor type 1 deficiency"/>
      </concept>
      <concept>
        <code value="73273"/>
        <display
                 value="Growth delay due to insulin-like growth factor I resistance"/>
      </concept>
      <concept>
        <code value="73423"/>
        <display value="Acute ackee fruit intoxication"/>
      </concept>
      <concept>
        <code value="75233"/>
        <display value="Wolman disease"/>
      </concept>
      <concept>
        <code value="75234"/>
        <display value="Cholesteryl ester storage disease"/>
      </concept>
      <concept>
        <code value="75249"/>
        <display value="Familial isolated restrictive cardiomyopathy"/>
      </concept>
      <concept>
        <code value="75325"/>
        <display
                 value="Osteosclerosis-ichthyosis-premature ovarian failure syndrome"/>
      </concept>
      <concept>
        <code value="75326"/>
        <display value="Familial isolated retinal arteriolar tortuosity"/>
      </concept>
      <concept>
        <code value="75327"/>
        <display value="North Carolina macular dystrophy"/>
      </concept>
      <concept>
        <code value="75373"/>
        <display value="Progressive bifocal chorioretinal atrophy"/>
      </concept>
      <concept>
        <code value="75374"/>
        <display value="Bradyopsia"/>
      </concept>
      <concept>
        <code value="75376"/>
        <display value="Familial drusen"/>
      </concept>
      <concept>
        <code value="75377"/>
        <display value="Central areolar choroidal dystrophy"/>
      </concept>
      <concept>
        <code value="75378"/>
        <display value="Oligocone trichromacy"/>
      </concept>
      <concept>
        <code value="75381"/>
        <display value="Cystoid macular dystrophy"/>
      </concept>
      <concept>
        <code value="75382"/>
        <display value="Oguchi disease"/>
      </concept>
      <concept>
        <code value="75389"/>
        <display
                 value="Brain malformation-congenital heart disease-postaxial polydactyly syndrome"/>
      </concept>
      <concept>
        <code value="75391"/>
        <display
                 value="Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"/>
      </concept>
      <concept>
        <code value="75392"/>
        <display value="Periodontal Ehlers-Danlos syndrome"/>
      </concept>
      <concept>
        <code value="75496"/>
        <display
                 value="B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome"/>
      </concept>
      <concept>
        <code value="75497"/>
        <display value="X-linked Ehlers-Danlos syndrome"/>
      </concept>
      <concept>
        <code value="75508"/>
        <display value="Angioosteohypotrophic syndrome"/>
      </concept>
      <concept>
        <code value="75563"/>
        <display value="X-linked sideroblastic anemia"/>
      </concept>
      <concept>
        <code value="75564"/>
        <display value="Acquired idiopathic sideroblastic anemia"/>
      </concept>
      <concept>
        <code value="75565"/>
        <display value="Tropical endomyocardial fibrosis"/>
      </concept>
      <concept>
        <code value="75566"/>
        <display value="Loeffler endocarditis"/>
      </concept>
      <concept>
        <code value="75567"/>
        <display value="Primary progressive freezing gait"/>
      </concept>
      <concept>
        <code value="75840"/>
        <display value="Ullrich congenital muscular dystrophy"/>
      </concept>
      <concept>
        <code value="75857"/>
        <display value="6q terminal deletion syndrome"/>
      </concept>
      <concept>
        <code value="75858"/>
        <display value="MORM syndrome"/>
      </concept>
      <concept>
        <code value="77258"/>
        <display value="Trichorhinophalangeal syndrome type 1"/>
      </concept>
      <concept>
        <code value="77259"/>
        <display value="Gaucher disease type 1"/>
      </concept>
      <concept>
        <code value="77260"/>
        <display value="Gaucher disease type 2"/>
      </concept>
      <concept>
        <code value="77261"/>
        <display value="Gaucher disease type 3"/>
      </concept>
      <concept>
        <code value="77292"/>
        <display
                 value="Infantile neurovisceral acid sphingomyelinase deficiency"/>
      </concept>
      <concept>
        <code value="77293"/>
        <display value="Chronic visceral acid sphingomyelinase deficiency"/>
      </concept>
      <concept>
        <code value="77295"/>
        <display value="Odontoleukodystrophy"/>
      </concept>
      <concept>
        <code value="77296"/>
        <display value="Morgagni-Stewart-Morel syndrome"/>
      </concept>
      <concept>
        <code value="77297"/>
        <display value="Majeed syndrome"/>
      </concept>
      <concept>
        <code value="77298"/>
        <display
                 value="Anophthalmia/microphthalmia-esophageal atresia syndrome"/>
      </concept>
      <concept>
        <code value="77299"/>
        <display value="Microphthalmia-brain atrophy syndrome"/>
      </concept>
      <concept>
        <code value="77300"/>
        <display
                 value="Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome"/>
      </concept>
      <concept>
        <code value="77301"/>
        <display value="Monosomy 9q22.3"/>
      </concept>
      <concept>
        <code value="79076"/>
        <display value="Juvenile polyposis of infancy"/>
      </concept>
      <concept>
        <code value="79078"/>
        <display value="IgG4-related dacryoadenitis and sialadenitis"/>
      </concept>
      <concept>
        <code value="79083"/>
        <display value="PPARG-related familial partial lipodystrophy"/>
      </concept>
      <concept>
        <code value="79084"/>
        <display value="Familial partial lipodystrophy, Köbberling type"/>
      </concept>
      <concept>
        <code value="79085"/>
        <display value="AKT2-related familial partial lipodystrophy"/>
      </concept>
      <concept>
        <code value="79086"/>
        <display value="Acquired generalized lipodystrophy"/>
      </concept>
      <concept>
        <code value="79087"/>
        <display value="Acquired partial lipodystrophy"/>
      </concept>
      <concept>
        <code value="79091"/>
        <display
                 value="Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome"/>
      </concept>
      <concept>
        <code value="79093"/>
        <display value="Foix-Alajouanine syndrome"/>
      </concept>
      <concept>
        <code value="79094"/>
        <display value="Grange syndrome"/>
      </concept>
      <concept>
        <code value="79095"/>
        <display value="Congenital bile acid synthesis defect type 4"/>
      </concept>
      <concept>
        <code value="79096"/>
        <display value="Pyridoxal phosphate-responsive seizures"/>
      </concept>
      <concept>
        <code value="79097"/>
        <display value="Folinic acid-responsive seizures"/>
      </concept>
      <concept>
        <code value="79098"/>
        <display value="Sympathetic ophthalmia"/>
      </concept>
      <concept>
        <code value="79099"/>
        <display
                 value="Interstitial granulomatous dermatitis with arthritis"/>
      </concept>
      <concept>
        <code value="79100"/>
        <display value="Atrophoderma vermiculata"/>
      </concept>
      <concept>
        <code value="79101"/>
        <display value="Hyperprolinemia type 2"/>
      </concept>
      <concept>
        <code value="79102"/>
        <display value="Thyrotoxic periodic paralysis"/>
      </concept>
      <concept>
        <code value="79105"/>
        <display value="Myxofibrosarcoma"/>
      </concept>
      <concept>
        <code value="79106"/>
        <display value="Eiken syndrome"/>
      </concept>
      <concept>
        <code value="79107"/>
        <display
                 value="Developmental malformations-deafness-dystonia syndrome"/>
      </concept>
      <concept>
        <code value="79113"/>
        <display value="Mandibulofacial dysostosis-microcephaly syndrome"/>
      </concept>
      <concept>
        <code value="79118"/>
        <display
                 value="Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome"/>
      </concept>
      <concept>
        <code value="79124"/>
        <display
                 value="Hepatic veno-occlusive disease-immunodeficiency syndrome"/>
      </concept>
      <concept>
        <code value="79126"/>
        <display value="Acute interstitial pneumonia"/>
      </concept>
      <concept>
        <code value="79127"/>
        <display
                 value="Respiratory bronchiolitis-interstitial lung disease syndrome"/>
      </concept>
      <concept>
        <code value="79128"/>
        <display value="Lymphoid interstitial pneumonia"/>
      </concept>
      <concept>
        <code value="79129"/>
        <display value="Trichodysplasia-amelogenesis imperfecta syndrome"/>
      </concept>
      <concept>
        <code value="79133"/>
        <display value="Focal facial dermal dysplasia type I"/>
      </concept>
      <concept>
        <code value="79134"/>
        <display value="DEND syndrome"/>
      </concept>
      <concept>
        <code value="79135"/>
        <display value="Episodic ataxia type 3"/>
      </concept>
      <concept>
        <code value="79136"/>
        <display value="Episodic ataxia type 4"/>
      </concept>
      <concept>
        <code value="79137"/>
        <display value="Generalized epilepsy-paroxysmal dyskinesia syndrome"/>
      </concept>
      <concept>
        <code value="79138"/>
        <display value="Bickerstaff brainstem encephalitis"/>
      </concept>
      <concept>
        <code value="79139"/>
        <display value="Japanese encephalitis"/>
      </concept>
      <concept>
        <code value="79140"/>
        <display value="Cutaneous neuroendocrine carcinoma"/>
      </concept>
      <concept>
        <code value="79141"/>
        <display value="Hereditary painful callosities"/>
      </concept>
      <concept>
        <code value="79143"/>
        <display value="Isolated congenital anonychia"/>
      </concept>
      <concept>
        <code value="79144"/>
        <display value="Isolated congenital onychodysplasia"/>
      </concept>
      <concept>
        <code value="79145"/>
        <display value="Dowling-Degos disease"/>
      </concept>
      <concept>
        <code value="79146"/>
        <display value="Familial progressive hyperpigmentation"/>
      </concept>
      <concept>
        <code value="79147"/>
        <display value="Familial reactive perforating collagenosis"/>
      </concept>
      <concept>
        <code value="79148"/>
        <display value="Elastosis perforans serpiginosa"/>
      </concept>
      <concept>
        <code value="79149"/>
        <display value="Dermochondrocorneal dystrophy"/>
      </concept>
      <concept>
        <code value="79150"/>
        <display value="Linear and whorled nevoid hypermelanosis"/>
      </concept>
      <concept>
        <code value="79151"/>
        <display value="Acrokeratosis verruciformis of Hopf"/>
      </concept>
      <concept>
        <code value="79152"/>
        <display value="Disseminated superficial actinic porokeratosis"/>
      </concept>
      <concept>
        <code value="79153"/>
        <display value="Idiopathic trachyonychia"/>
      </concept>
      <concept>
        <code value="79154"/>
        <display value="2-aminoadipic 2-oxoadipic aciduria"/>
      </concept>
      <concept>
        <code value="79155"/>
        <display value="Hydroxykynureninuria"/>
      </concept>
      <concept>
        <code value="79156"/>
        <display
                 value="Seizures-intellectual disability due to hydroxylysinuria syndrome"/>
      </concept>
      <concept>
        <code value="79157"/>
        <display value="2-methylbutyryl-CoA dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="79159"/>
        <display value="Isobutyryl-CoA dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="79230"/>
        <display value="HJV or HAMP-related hemochromatosis"/>
      </concept>
      <concept>
        <code value="79233"/>
        <display
                 value="Hypoxanthine guanine phosphoribosyltransferase partial deficiency"/>
      </concept>
      <concept>
        <code value="79234"/>
        <display value="Crigler-Najjar syndrome type 1"/>
      </concept>
      <concept>
        <code value="79235"/>
        <display value="Crigler-Najjar syndrome type 2"/>
      </concept>
      <concept>
        <code value="79237"/>
        <display value="Galactokinase deficiency"/>
      </concept>
      <concept>
        <code value="79238"/>
        <display value="Galactose epimerase deficiency"/>
      </concept>
      <concept>
        <code value="79239"/>
        <display value="Classic galactosemia"/>
      </concept>
      <concept>
        <code value="79240"/>
        <display
                 value="Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency"/>
      </concept>
      <concept>
        <code value="79241"/>
        <display value="Biotinidase deficiency"/>
      </concept>
      <concept>
        <code value="79242"/>
        <display value="Holocarboxylase synthetase deficiency"/>
      </concept>
      <concept>
        <code value="79243"/>
        <display value="Pyruvate dehydrogenase E1-alpha deficiency"/>
      </concept>
      <concept>
        <code value="79244"/>
        <display value="Pyruvate dehydrogenase E2 deficiency"/>
      </concept>
      <concept>
        <code value="79246"/>
        <display value="Pyruvate dehydrogenase phosphatase deficiency"/>
      </concept>
      <concept>
        <code value="79253"/>
        <display value="Mild phenylketonuria"/>
      </concept>
      <concept>
        <code value="79254"/>
        <display value="Classic phenylketonuria"/>
      </concept>
      <concept>
        <code value="79255"/>
        <display value="GM1 gangliosidosis type 1"/>
      </concept>
      <concept>
        <code value="79256"/>
        <display value="GM1 gangliosidosis type 2"/>
      </concept>
      <concept>
        <code value="79257"/>
        <display value="GM1 gangliosidosis type 3"/>
      </concept>
      <concept>
        <code value="79258"/>
        <display
                 value="Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia"/>
      </concept>
      <concept>
        <code value="79259"/>
        <display
                 value="Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib"/>
      </concept>
      <concept>
        <code value="79269"/>
        <display value="Sanfilippo syndrome type A"/>
      </concept>
      <concept>
        <code value="79270"/>
        <display value="Sanfilippo syndrome type B"/>
      </concept>
      <concept>
        <code value="79271"/>
        <display value="Sanfilippo syndrome type C"/>
      </concept>
      <concept>
        <code value="79272"/>
        <display value="Sanfilippo syndrome type D"/>
      </concept>
      <concept>
        <code value="79273"/>
        <display value="Hereditary coproporphyria"/>
      </concept>
      <concept>
        <code value="79276"/>
        <display value="Acute intermittent porphyria"/>
      </concept>
      <concept>
        <code value="79277"/>
        <display value="Congenital erythropoietic porphyria"/>
      </concept>
      <concept>
        <code value="79278"/>
        <display value="Autosomal erythropoietic protoporphyria"/>
      </concept>
      <concept>
        <code value="79279"/>
        <display value="Alpha-N-acetylgalactosaminidase deficiency type 1"/>
      </concept>
      <concept>
        <code value="79280"/>
        <display value="Alpha-N-acetylgalactosaminidase deficiency type 2"/>
      </concept>
      <concept>
        <code value="79281"/>
        <display value="Alpha-N-acetylgalactosaminidase deficiency type 3"/>
      </concept>
      <concept>
        <code value="79282"/>
        <display
                 value="Methylmalonic acidemia with homocystinuria, type cblC"/>
      </concept>
      <concept>
        <code value="79283"/>
        <display
                 value="Methylmalonic acidemia with homocystinuria, type cblD"/>
      </concept>
      <concept>
        <code value="79284"/>
        <display
                 value="Methylmalonic acidemia with homocystinuria type cblF"/>
      </concept>
      <concept>
        <code value="79292"/>
        <display value="Fish-eye disease"/>
      </concept>
      <concept>
        <code value="79293"/>
        <display value="Familial LCAT deficiency"/>
      </concept>
      <concept>
        <code value="79299"/>
        <display value="Congenital glucokinase-related hyperinsulinism"/>
      </concept>
      <concept>
        <code value="79301"/>
        <display value="Congenital bile acid synthesis defect type 1"/>
      </concept>
      <concept>
        <code value="79302"/>
        <display value="Congenital bile acid synthesis defect type 3"/>
      </concept>
      <concept>
        <code value="79303"/>
        <display value="Congenital bile acid synthesis defect type 2"/>
      </concept>
      <concept>
        <code value="79304"/>
        <display
                 value="Progressive familial intrahepatic cholestasis type 2"/>
      </concept>
      <concept>
        <code value="79305"/>
        <display
                 value="Progressive familial intrahepatic cholestasis type 3"/>
      </concept>
      <concept>
        <code value="79306"/>
        <display
                 value="Progressive familial intrahepatic cholestasis type 1"/>
      </concept>
      <concept>
        <code value="79310"/>
        <display
                 value="Vitamin B12-responsive methylmalonic acidemia type cblA"/>
      </concept>
      <concept>
        <code value="79311"/>
        <display
                 value="Vitamin B12-responsive methylmalonic acidemia type cblB"/>
      </concept>
      <concept>
        <code value="79312"/>
        <display
                 value="Vitamin B12-unresponsive methylmalonic acidemia type mut-"/>
      </concept>
      <concept>
        <code value="79314"/>
        <display value="L-2-hydroxyglutaric aciduria"/>
      </concept>
      <concept>
        <code value="79315"/>
        <display value="D-2-hydroxyglutaric aciduria"/>
      </concept>
      <concept>
        <code value="79318"/>
        <display value="PMM2-CDG"/>
      </concept>
      <concept>
        <code value="79319"/>
        <display value="MPI-CDG"/>
      </concept>
      <concept>
        <code value="79320"/>
        <display value="ALG6-CDG"/>
      </concept>
      <concept>
        <code value="79321"/>
        <display value="ALG3-CDG"/>
      </concept>
      <concept>
        <code value="79322"/>
        <display value="DPM1-CDG"/>
      </concept>
      <concept>
        <code value="79323"/>
        <display value="MPDU1-CDG"/>
      </concept>
      <concept>
        <code value="79324"/>
        <display value="ALG12-CDG"/>
      </concept>
      <concept>
        <code value="79325"/>
        <display value="ALG8-CDG"/>
      </concept>
      <concept>
        <code value="79326"/>
        <display value="ALG2-CDG"/>
      </concept>
      <concept>
        <code value="79327"/>
        <display value="ALG1-CDG"/>
      </concept>
      <concept>
        <code value="79328"/>
        <display value="ALG9-CDG"/>
      </concept>
      <concept>
        <code value="79329"/>
        <display value="MGAT2-CDG"/>
      </concept>
      <concept>
        <code value="79330"/>
        <display value="MOGS-CDG"/>
      </concept>
      <concept>
        <code value="79332"/>
        <display value="B4GALT1-CDG"/>
      </concept>
      <concept>
        <code value="79333"/>
        <display value="COG7-CDG"/>
      </concept>
      <concept>
        <code value="79345"/>
        <display value="Brachytelephalangic chondrodysplasia punctata"/>
      </concept>
      <concept>
        <code value="79346"/>
        <display value="Chondrodysplasia punctata, tibial-metacarpal type"/>
      </concept>
      <concept>
        <code value="79347"/>
        <display value="Chondrodysplasia punctata, Toriello type"/>
      </concept>
      <concept>
        <code value="79350"/>
        <display
                 value="3-phosphoserine phosphatase deficiency, infantile/juvenile form"/>
      </concept>
      <concept>
        <code value="79351"/>
        <display
                 value="3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form"/>
      </concept>
      <concept>
        <code value="79394"/>
        <display value="Congenital ichthyosiform erythroderma"/>
      </concept>
      <concept>
        <code value="79395"/>
        <display value="Keratoderma hereditarium mutilans with ichthyosis"/>
      </concept>
      <concept>
        <code value="79396"/>
        <display
                 value="Autosomal dominant generalized epidermolysis bullosa simplex, severe form"/>
      </concept>
      <concept>
        <code value="79397"/>
        <display
                 value="Epidermolysis bullosa simplex with mottled pigmentation"/>
      </concept>
      <concept>
        <code value="79399"/>
        <display
                 value="Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form"/>
      </concept>
      <concept>
        <code value="79400"/>
        <display value="Localized epidermolysis bullosa simplex"/>
      </concept>
      <concept>
        <code value="79401"/>
        <display
                 value="PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement"/>
      </concept>
      <concept>
        <code value="79402"/>
        <display
                 value="Intermediate generalized junctional epidermolysis bullosa"/>
      </concept>
      <concept>
        <code value="79403"/>
        <display
                 value="Junctional epidermolysis bullosa with pyloric atresia"/>
      </concept>
      <concept>
        <code value="79404"/>
        <display value="Severe generalized junctional epidermolysis bullosa"/>
      </concept>
      <concept>
        <code value="79405"/>
        <display value="Junctional epidermolysis bullosa inversa"/>
      </concept>
      <concept>
        <code value="79406"/>
        <display value="Late-onset junctional epidermolysis bullosa"/>
      </concept>
      <concept>
        <code value="79408"/>
        <display
                 value="Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form"/>
      </concept>
      <concept>
        <code value="79409"/>
        <display value="Recessive dystrophic epidermolysis bullosa inversa"/>
      </concept>
      <concept>
        <code value="79410"/>
        <display
                 value="Localized dystrophic epidermolysis bullosa, pretibial form"/>
      </concept>
      <concept>
        <code value="79411"/>
        <display value="Self-improving dystrophic epidermolysis bullosa"/>
      </concept>
      <concept>
        <code value="79414"/>
        <display value="Woolly hair nevus"/>
      </concept>
      <concept>
        <code value="79430"/>
        <display value="Hermansky-Pudlak syndrome"/>
      </concept>
      <concept>
        <code value="79431"/>
        <display value="Oculocutaneous albinism type 1A"/>
      </concept>
      <concept>
        <code value="79432"/>
        <display value="Oculocutaneous albinism type 2"/>
      </concept>
      <concept>
        <code value="79433"/>
        <display value="Oculocutaneous albinism type 3"/>
      </concept>
      <concept>
        <code value="79434"/>
        <display value="Oculocutaneous albinism type 1B"/>
      </concept>
      <concept>
        <code value="79435"/>
        <display value="Oculocutaneous albinism type 4"/>
      </concept>
      <concept>
        <code value="79443"/>
        <display value="Pseudohypoparathyroidism type 1A"/>
      </concept>
      <concept>
        <code value="79444"/>
        <display value="Pseudohypoparathyroidism type 1C"/>
      </concept>
      <concept>
        <code value="79445"/>
        <display value="Pseudopseudohypoparathyroidism"/>
      </concept>
      <concept>
        <code value="79447"/>
        <display value="X-linked lethal multiple pterygium syndrome"/>
      </concept>
      <concept>
        <code value="79452"/>
        <display value="Milroy disease"/>
      </concept>
      <concept>
        <code value="79455"/>
        <display value="Cutaneous mastocytoma"/>
      </concept>
      <concept>
        <code value="79456"/>
        <display value="Diffuse cutaneous mastocytosis"/>
      </concept>
      <concept>
        <code value="79457"/>
        <display value="Maculopapular cutaneous mastocytosis"/>
      </concept>
      <concept>
        <code value="79466"/>
        <display value="Inflammatory linear verrucous epidermal nevus"/>
      </concept>
      <concept>
        <code value="79467"/>
        <display value="Verrucous nevus"/>
      </concept>
      <concept>
        <code value="79468"/>
        <display value="Acanthokeratolytic verrucous nevus"/>
      </concept>
      <concept>
        <code value="79473"/>
        <display value="Variegate porphyria"/>
      </concept>
      <concept>
        <code value="79474"/>
        <display value="Atypical Werner syndrome"/>
      </concept>
      <concept>
        <code value="79476"/>
        <display value="Griscelli syndrome type 1"/>
      </concept>
      <concept>
        <code value="79477"/>
        <display value="Griscelli syndrome type 2"/>
      </concept>
      <concept>
        <code value="79478"/>
        <display value="Griscelli syndrome type 3"/>
      </concept>
      <concept>
        <code value="79479"/>
        <display value="Pemphigus vegetans"/>
      </concept>
      <concept>
        <code value="79480"/>
        <display value="Pemphigus erythematosus"/>
      </concept>
      <concept>
        <code value="79481"/>
        <display value="Pemphigus foliaceus"/>
      </concept>
      <concept>
        <code value="79483"/>
        <display value="Phakomatosis cesioflammea"/>
      </concept>
      <concept>
        <code value="79484"/>
        <display value="Phakomatosis cesiomarmorata"/>
      </concept>
      <concept>
        <code value="79485"/>
        <display value="Phakomatosis spilorosea"/>
      </concept>
      <concept>
        <code value="79489"/>
        <display value="Macrocystic lymphatic malformation"/>
      </concept>
      <concept>
        <code value="79490"/>
        <display value="Microcystic lymphatic malformation"/>
      </concept>
      <concept>
        <code value="79492"/>
        <display value="Pili gemini"/>
      </concept>
      <concept>
        <code value="79493"/>
        <display value="Brooke-Spiegler syndrome"/>
      </concept>
      <concept>
        <code value="79495"/>
        <display value="X-linked congenital generalized hypertrichosis"/>
      </concept>
      <concept>
        <code value="79499"/>
        <display
                 value="Autosomal dominant deafness-onychodystrophy syndrome"/>
      </concept>
      <concept>
        <code value="79500"/>
        <display value="DOORS syndrome"/>
      </concept>
      <concept>
        <code value="79501"/>
        <display value="Punctate palmoplantar keratoderma type 1"/>
      </concept>
      <concept>
        <code value="79502"/>
        <display value="Punctate palmoplantar keratoderma type 2"/>
      </concept>
      <concept>
        <code value="79503"/>
        <display value="Ichthyosis hystrix of Curth-Macklin"/>
      </concept>
      <concept>
        <code value="79506"/>
        <display value="Cholesterol-ester transfer protein deficiency"/>
      </concept>
      <concept>
        <code value="79507"/>
        <display value="Hypotonia-failure to thrive-microcephaly syndrome"/>
      </concept>
      <concept>
        <code value="79643"/>
        <display
                 value="Autosomal recessive hyperinsulinism due to SUR1 deficiency"/>
      </concept>
      <concept>
        <code value="79644"/>
        <display
                 value="Autosomal recessive hyperinsulinism due to Kir6.2 deficiency"/>
      </concept>
      <concept>
        <code value="79651"/>
        <display value="Mild hyperphenylalaninemia"/>
      </concept>
      <concept>
        <code value="79665"/>
        <display value="Gardner syndrome"/>
      </concept>
      <concept>
        <code value="83311"/>
        <display value="Rocky Mountain spotted fever"/>
      </concept>
      <concept>
        <code value="83312"/>
        <display value="Rickettsialpox"/>
      </concept>
      <concept>
        <code value="83313"/>
        <display value="Boutonneuse fever"/>
      </concept>
      <concept>
        <code value="83314"/>
        <display value="Epidemic typhus"/>
      </concept>
      <concept>
        <code value="83315"/>
        <display value="Murine typhus"/>
      </concept>
      <concept>
        <code value="83316"/>
        <display value="Pseudotyphus of California"/>
      </concept>
      <concept>
        <code value="83317"/>
        <display value="Scrub typhus"/>
      </concept>
      <concept>
        <code value="83330"/>
        <display value="Proximal spinal muscular atrophy type 1"/>
      </concept>
      <concept>
        <code value="83418"/>
        <display value="Proximal spinal muscular atrophy type 2"/>
      </concept>
      <concept>
        <code value="83419"/>
        <display value="Proximal spinal muscular atrophy type 3"/>
      </concept>
      <concept>
        <code value="83420"/>
        <display value="Proximal spinal muscular atrophy type 4"/>
      </concept>
      <concept>
        <code value="83450"/>
        <display value="Regional odontodysplasia"/>
      </concept>
      <concept>
        <code value="83451"/>
        <display value="Florid cemento-osseous dysplasia"/>
      </concept>
      <concept>
        <code value="83452"/>
        <display value="Complex regional pain syndrome"/>
      </concept>
      <concept>
        <code value="83453"/>
        <display value="Vulvovaginal gingival syndrome"/>
      </concept>
      <concept>
        <code value="83454"/>
        <display value="Glomuvenous malformation"/>
      </concept>
      <concept>
        <code value="83461"/>
        <display value="Congenital primary aphakia"/>
      </concept>
      <concept>
        <code value="83463"/>
        <display value="Microtia"/>
      </concept>
      <concept>
        <code value="83465"/>
        <display value="Narcolepsy type 2"/>
      </concept>
      <concept>
        <code value="83467"/>
        <display value="Morvan syndrome"/>
      </concept>
      <concept>
        <code value="83468"/>
        <display value="Solitary bone cyst"/>
      </concept>
      <concept>
        <code value="83469"/>
        <display value="Desmoplastic small round cell tumor"/>
      </concept>
      <concept>
        <code value="83471"/>
        <display value="T-cell immunodeficiency with thymic aplasia"/>
      </concept>
      <concept>
        <code value="83472"/>
        <display value="CAMOS syndrome"/>
      </concept>
      <concept>
        <code value="83473"/>
        <display
                 value="Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"/>
      </concept>
      <concept>
        <code value="83476"/>
        <display value="West-Nile encephalitis"/>
      </concept>
      <concept>
        <code value="83482"/>
        <display value="Mycoplasma encephalitis"/>
      </concept>
      <concept>
        <code value="83483"/>
        <display value="La Crosse encephalitis"/>
      </concept>
      <concept>
        <code value="83484"/>
        <display value="St. Louis encephalitis"/>
      </concept>
      <concept>
        <code value="83593"/>
        <display value="Western equine encephalitis"/>
      </concept>
      <concept>
        <code value="83594"/>
        <display value="Eastern equine encephalitis"/>
      </concept>
      <concept>
        <code value="83595"/>
        <display value="Colorado tick fever"/>
      </concept>
      <concept>
        <code value="83597"/>
        <display value="Acute disseminated encephalomyelitis"/>
      </concept>
      <concept>
        <code value="83600"/>
        <display value="Encephalitis lethargica"/>
      </concept>
      <concept>
        <code value="83601"/>
        <display
                 value="Steroid-responsive encephalopathy associated with autoimmune thyroiditis"/>
      </concept>
      <concept>
        <code value="83616"/>
        <display value="Rubella panencephalitis"/>
      </concept>
      <concept>
        <code value="83617"/>
        <display
                 value="Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome"/>
      </concept>
      <concept>
        <code value="83619"/>
        <display
                 value="Macrostomia-preauricular tags-external ophthalmoplegia syndrome"/>
      </concept>
      <concept>
        <code value="83620"/>
        <display value="Enteric anendocrinosis"/>
      </concept>
      <concept>
        <code value="83628"/>
        <display value="LUMBAR syndrome"/>
      </concept>
      <concept>
        <code value="83629"/>
        <display
                 value="Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="83639"/>
        <display
                 value="Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency"/>
      </concept>
      <concept>
        <code value="83642"/>
        <display value="Microcytic anemia with liver iron overload"/>
      </concept>
      <concept>
        <code value="84064"/>
        <display value="Syndromic diarrhea"/>
      </concept>
      <concept>
        <code value="84065"/>
        <display
                 value="Idiopathic malabsorption due to bile acid synthesis defects"/>
      </concept>
      <concept>
        <code value="84081"/>
        <display value="Senior-Boichis syndrome"/>
      </concept>
      <concept>
        <code value="84085"/>
        <display value="Hinman syndrome"/>
      </concept>
      <concept>
        <code value="84087"/>
        <display value="Collagen type III glomerulopathy"/>
      </concept>
      <concept>
        <code value="84090"/>
        <display value="Fibronectin glomerulopathy"/>
      </concept>
      <concept>
        <code value="84093"/>
        <display value="Hereditary thermosensitive neuropathy"/>
      </concept>
      <concept>
        <code value="84132"/>
        <display
                 value="Desmin-related myopathy with Mallory body-like inclusions"/>
      </concept>
      <concept>
        <code value="84142"/>
        <display value="Isaacs syndrome"/>
      </concept>
      <concept>
        <code value="85110"/>
        <display
                 value="Familial encephalopathy with neuroserpin inclusion bodies"/>
      </concept>
      <concept>
        <code value="85112"/>
        <display
                 value="Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome"/>
      </concept>
      <concept>
        <code value="85128"/>
        <display value="Bothnia retinal dystrophy"/>
      </concept>
      <concept>
        <code value="85136"/>
        <display value="Cystic leukoencephalopathy without megalencephaly"/>
      </concept>
      <concept>
        <code value="85138"/>
        <display value="Addison disease"/>
      </concept>
      <concept>
        <code value="85146"/>
        <display value="Neurogenic scapuloperoneal syndrome, Kaeser type"/>
      </concept>
      <concept>
        <code value="85162"/>
        <display value="Facial onset sensory and motor neuronopathy"/>
      </concept>
      <concept>
        <code value="85163"/>
        <display value="Hypomyelination-congenital cataract syndrome"/>
      </concept>
      <concept>
        <code value="85164"/>
        <display
                 value="Camptodactyly-tall stature-scoliosis-hearing loss syndrome"/>
      </concept>
      <concept>
        <code value="85165"/>
        <display
                 value="Severe achondroplasia-developmental delay-acanthosis nigricans syndrome"/>
      </concept>
      <concept>
        <code value="85166"/>
        <display value="Platyspondylic dysplasia, Torrance type"/>
      </concept>
      <concept>
        <code value="85167"/>
        <display
                 value="Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"/>
      </concept>
      <concept>
        <code value="85168"/>
        <display value="Craniofacial conodysplasia"/>
      </concept>
      <concept>
        <code value="85169"/>
        <display value="Familial digital arthropathy-brachydactyly"/>
      </concept>
      <concept>
        <code value="85170"/>
        <display value="Mesomelic dysplasia, Savarirayan type"/>
      </concept>
      <concept>
        <code value="85172"/>
        <display
                 value="Microcephalic osteodysplastic dysplasia, Saul-Wilson type"/>
      </concept>
      <concept>
        <code value="85173"/>
        <display value="IMAGe syndrome"/>
      </concept>
      <concept>
        <code value="85174"/>
        <display value="Pseudodiastrophic dysplasia"/>
      </concept>
      <concept>
        <code value="85175"/>
        <display value="Astley-Kendall dysplasia"/>
      </concept>
      <concept>
        <code value="85179"/>
        <display value="Infantile osteopetrosis with neuroaxonal dysplasia"/>
      </concept>
      <concept>
        <code value="85182"/>
        <display
                 value="Diaphyseal medullary stenosis-bone malignancy syndrome"/>
      </concept>
      <concept>
        <code value="85184"/>
        <display value="Craniometadiaphyseal dysplasia, wormian bone type"/>
      </concept>
      <concept>
        <code value="85186"/>
        <display value="Endosteal sclerosis-cerebellar hypoplasia syndrome"/>
      </concept>
      <concept>
        <code value="85188"/>
        <display value="Metaphyseal dysplasia, Braun-Tinschert type"/>
      </concept>
      <concept>
        <code value="85191"/>
        <display value="Singleton-Merten dysplasia"/>
      </concept>
      <concept>
        <code value="85192"/>
        <display value="Calvarial doughnut lesions-bone fragility syndrome"/>
      </concept>
      <concept>
        <code value="85193"/>
        <display value="Idiopathic juvenile osteoporosis"/>
      </concept>
      <concept>
        <code value="85194"/>
        <display value="Spondylo-ocular syndrome"/>
      </concept>
      <concept>
        <code value="85195"/>
        <display value="Familial expansile osteolysis"/>
      </concept>
      <concept>
        <code value="85197"/>
        <display value="Genochondromatosis type 1"/>
      </concept>
      <concept>
        <code value="85198"/>
        <display value="Dysspondyloenchondromatosis"/>
      </concept>
      <concept>
        <code value="85199"/>
        <display
                 value="Craniosynostosis-anal anomalies-porokeratosis syndrome"/>
      </concept>
      <concept>
        <code value="85201"/>
        <display value="Genitopatellar syndrome"/>
      </concept>
      <concept>
        <code value="85202"/>
        <display value="Keutel syndrome"/>
      </concept>
      <concept>
        <code value="85203"/>
        <display value="Acropectoral syndrome"/>
      </concept>
      <concept>
        <code value="85212"/>
        <display value="Fetal Gaucher disease"/>
      </concept>
      <concept>
        <code value="85273"/>
        <display value="X-linked intellectual disability, Abidi type"/>
      </concept>
      <concept>
        <code value="85274"/>
        <display value="Syndromic X-linked intellectual disability 7"/>
      </concept>
      <concept>
        <code value="85275"/>
        <display
                 value="Microphthalmia-ankyloblepharon-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="85276"/>
        <display value="X-linked intellectual disability, Armfield type"/>
      </concept>
      <concept>
        <code value="85277"/>
        <display value="X-linked intellectual disability, Cantagrel type"/>
      </concept>
      <concept>
        <code value="85278"/>
        <display value="Christianson syndrome"/>
      </concept>
      <concept>
        <code value="85279"/>
        <display
                 value="KDM5C-related syndromic X-linked intellectual disability"/>
      </concept>
      <concept>
        <code value="85280"/>
        <display
                 value="X-linked intellectual disability-cubitus valgus-dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="85282"/>
        <display value="MEHMO syndrome"/>
      </concept>
      <concept>
        <code value="85283"/>
        <display
                 value="X-linked intellectual disability, Miles-Carpenter type"/>
      </concept>
      <concept>
        <code value="85284"/>
        <display value="BRESEK syndrome"/>
      </concept>
      <concept>
        <code value="85285"/>
        <display value="X-linked intellectual disability, Schimke type"/>
      </concept>
      <concept>
        <code value="85286"/>
        <display value="X-linked intellectual disability, Shashi type"/>
      </concept>
      <concept>
        <code value="85287"/>
        <display value="X-linked intellectual disability, Siderius type"/>
      </concept>
      <concept>
        <code value="85288"/>
        <display
                 value="X-linked intellectual disability, Stocco Dos Santos type"/>
      </concept>
      <concept>
        <code value="85290"/>
        <display value="X-linked intellectual disability, Wilson type"/>
      </concept>
      <concept>
        <code value="85292"/>
        <display value="X-linked spinocerebellar ataxia type 4"/>
      </concept>
      <concept>
        <code value="85293"/>
        <display value="X-linked intellectual disability, Cabezas type"/>
      </concept>
      <concept>
        <code value="85294"/>
        <display
                 value="X-linked epilepsy-learning disabilities-behavior disorders syndrome"/>
      </concept>
      <concept>
        <code value="85295"/>
        <display value="HSD10 disease, atypical type"/>
      </concept>
      <concept>
        <code value="85297"/>
        <display value="X-linked spinocerebellar ataxia type 3"/>
      </concept>
      <concept>
        <code value="85317"/>
        <display
                 value="X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome"/>
      </concept>
      <concept>
        <code value="85319"/>
        <display
                 value="X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="85320"/>
        <display
                 value="X-linked intellectual disability-macrocephaly-macroorchidism syndrome"/>
      </concept>
      <concept>
        <code value="85321"/>
        <display
                 value="Deafness-intellectual disability syndrome, Martin-Probst type"/>
      </concept>
      <concept>
        <code value="85322"/>
        <display value="X-linked intellectual disability, Pai type"/>
      </concept>
      <concept>
        <code value="85323"/>
        <display value="X-linked intellectual disability, Seemanova type"/>
      </concept>
      <concept>
        <code value="85324"/>
        <display value="X-linked intellectual disability, Shrimpton type"/>
      </concept>
      <concept>
        <code value="85325"/>
        <display value="X-linked intellectual disability, Stevenson type"/>
      </concept>
      <concept>
        <code value="85326"/>
        <display value="X-linked intellectual disability, Stoll type"/>
      </concept>
      <concept>
        <code value="85327"/>
        <display
                 value="X-linked intellectual disability-acromegaly-hyperactivity syndrome"/>
      </concept>
      <concept>
        <code value="85329"/>
        <display
                 value="X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome"/>
      </concept>
      <concept>
        <code value="85332"/>
        <display
                 value="X-linked intellectual disability-retinitis pigmentosa syndrome"/>
      </concept>
      <concept>
        <code value="85334"/>
        <display value="X-linked neurodegenerative syndrome, Bertini type"/>
      </concept>
      <concept>
        <code value="85335"/>
        <display value="Fried syndrome"/>
      </concept>
      <concept>
        <code value="85336"/>
        <display value="X-linked neurodegenerative syndrome, Hamel type"/>
      </concept>
      <concept>
        <code value="85338"/>
        <display
                 value="X-linked intellectual disability-ataxia-apraxia syndrome"/>
      </concept>
      <concept>
        <code value="85408"/>
        <display
                 value="Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis"/>
      </concept>
      <concept>
        <code value="85410"/>
        <display value="Oligoarticular juvenile idiopathic arthritis"/>
      </concept>
      <concept>
        <code value="85414"/>
        <display value="Systemic-onset juvenile idiopathic arthritis"/>
      </concept>
      <concept>
        <code value="85435"/>
        <display
                 value="Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis"/>
      </concept>
      <concept>
        <code value="85436"/>
        <display value="Psoriasis-related juvenile idiopathic arthritis"/>
      </concept>
      <concept>
        <code value="85438"/>
        <display value="Enthesitis-related juvenile idiopathic arthritis"/>
      </concept>
      <concept>
        <code value="85442"/>
        <display
                 value="Short stature-pituitary and cerebellar defects-small sella turcica syndrome"/>
      </concept>
      <concept>
        <code value="85443"/>
        <display value="AL amyloidosis"/>
      </concept>
      <concept>
        <code value="85445"/>
        <display value="AA amyloidosis"/>
      </concept>
      <concept>
        <code value="85446"/>
        <display value="Wild type ABeta2M amyloidosis"/>
      </concept>
      <concept>
        <code value="85447"/>
        <display value="ATTRV30M amyloidosis"/>
      </concept>
      <concept>
        <code value="85448"/>
        <display value="AGel amyloidosis"/>
      </concept>
      <concept>
        <code value="85450"/>
        <display
                 value="Hereditary amyloidosis with primary renal involvement"/>
      </concept>
      <concept>
        <code value="85451"/>
        <display value="ATTRV122I amyloidosis"/>
      </concept>
      <concept>
        <code value="85453"/>
        <display value="X-linked reticulate pigmentary disorder"/>
      </concept>
      <concept>
        <code value="85458"/>
        <display value="Cerebral Amyloid Angiopathy"/>
      </concept>
      <concept>
        <code value="86309"/>
        <display value="DPAGT1-CDG"/>
      </concept>
      <concept>
        <code value="86788"/>
        <display value="X-linked severe congenital neutropenia"/>
      </concept>
      <concept>
        <code value="86789"/>
        <display value="Isolated patella aplasia/hypoplasia"/>
      </concept>
      <concept>
        <code value="86797"/>
        <display value="Atypical lichen myxedematosus"/>
      </concept>
      <concept>
        <code value="86812"/>
        <display value="POMT1-related limb-girdle muscular dystrophy R11"/>
      </concept>
      <concept>
        <code value="86813"/>
        <display value="Helicoid peripapillary chorioretinal degeneration"/>
      </concept>
      <concept>
        <code value="86814"/>
        <display value="Benign adult familial myoclonic epilepsy"/>
      </concept>
      <concept>
        <code value="86815"/>
        <display value="Aplasia of lacrimal and salivary glands"/>
      </concept>
      <concept>
        <code value="86816"/>
        <display value="Congenital analbuminemia"/>
      </concept>
      <concept>
        <code value="86817"/>
        <display value="Hemolytic anemia due to adenylate kinase deficiency"/>
      </concept>
      <concept>
        <code value="86818"/>
        <display
                 value="Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome"/>
      </concept>
      <concept>
        <code value="86819"/>
        <display value="Atrichia with papular lesions"/>
      </concept>
      <concept>
        <code value="86820"/>
        <display value="Familial avascular necrosis of femoral head"/>
      </concept>
      <concept>
        <code value="86821"/>
        <display
                 value="Lissencephaly type 3-familial fetal akinesia sequence syndrome"/>
      </concept>
      <concept>
        <code value="86822"/>
        <display
                 value="Lissencephaly type 3-metacarpal bone dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="86829"/>
        <display value="Chronic neutrophilic leukemia"/>
      </concept>
      <concept>
        <code value="86830"/>
        <display value="Chronic myeloproliferative disease, unclassifiable"/>
      </concept>
      <concept>
        <code value="86834"/>
        <display value="Juvenile myelomonocytic leukemia"/>
      </concept>
      <concept>
        <code value="86839"/>
        <display value="Myelodysplastic neoplasm with increased blasts"/>
      </concept>
      <concept>
        <code value="86841"/>
        <display
                 value="Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality"/>
      </concept>
      <concept>
        <code value="86843"/>
        <display value="Acute panmyelosis with myelofibrosis"/>
      </concept>
      <concept>
        <code value="86845"/>
        <display
                 value="Acute myeloid leukaemia with myelodysplasia-related features"/>
      </concept>
      <concept>
        <code value="86849"/>
        <display value="Acute basophilic leukemia"/>
      </concept>
      <concept>
        <code value="86850"/>
        <display value="Myeloid sarcoma"/>
      </concept>
      <concept>
        <code value="86852"/>
        <display value="B-cell prolymphocytic leukemia"/>
      </concept>
      <concept>
        <code value="86854"/>
        <display value="Splenic marginal zone lymphoma"/>
      </concept>
      <concept>
        <code value="86855"/>
        <display value="Plasmacytoma"/>
      </concept>
      <concept>
        <code value="86861"/>
        <display
                 value="Non-amyloid monoclonal immunoglobulin deposition disease"/>
      </concept>
      <concept>
        <code value="86864"/>
        <display value="Heavy chain disease"/>
      </concept>
      <concept>
        <code value="86867"/>
        <display value="Nodal marginal zone B-cell lymphoma"/>
      </concept>
      <concept>
        <code value="86869"/>
        <display value="Lymphomatoid granulomatosis"/>
      </concept>
      <concept>
        <code value="86870"/>
        <display value="Blastic plasmacytoid dendritic cell neoplasm"/>
      </concept>
      <concept>
        <code value="86871"/>
        <display value="T-cell prolymphocytic leukemia"/>
      </concept>
      <concept>
        <code value="86872"/>
        <display value="T-cell large granular lymphocyte leukemia"/>
      </concept>
      <concept>
        <code value="86873"/>
        <display value="Aggressive NK-cell leukemia"/>
      </concept>
      <concept>
        <code value="86875"/>
        <display value="Adult T-cell leukemia/lymphoma"/>
      </concept>
      <concept>
        <code value="86879"/>
        <display value="Extranodal nasal NK/T cell lymphoma"/>
      </concept>
      <concept>
        <code value="86880"/>
        <display value="Enteropathy-associated T-cell lymphoma"/>
      </concept>
      <concept>
        <code value="86882"/>
        <display value="Hepatosplenic T-cell lymphoma"/>
      </concept>
      <concept>
        <code value="86884"/>
        <display value="Subcutaneous panniculitis-like T-cell lymphoma"/>
      </concept>
      <concept>
        <code value="86885"/>
        <display
                 value="Primary cutaneous peripheral T-cell lymphoma not otherwise specified"/>
      </concept>
      <concept>
        <code value="86886"/>
        <display value="Angioimmunoblastic T-cell lymphoma"/>
      </concept>
      <concept>
        <code value="86893"/>
        <display value="Nodular lymphocyte predominant Hodgkin lymphoma"/>
      </concept>
      <concept>
        <code value="86896"/>
        <display value="Histiocytic sarcoma"/>
      </concept>
      <concept>
        <code value="86897"/>
        <display value="Langerhans cell sarcoma"/>
      </concept>
      <concept>
        <code value="86900"/>
        <display value="Interdigitating dendritic cell sarcoma"/>
      </concept>
      <concept>
        <code value="86902"/>
        <display value="Follicular dendritic cell sarcoma"/>
      </concept>
      <concept>
        <code value="86903"/>
        <display value="Dendritic cell sarcoma not otherwise specified"/>
      </concept>
      <concept>
        <code value="86904"/>
        <display
                 value="Methotrexate-associated lymphoproliferative disorders"/>
      </concept>
      <concept>
        <code value="86906"/>
        <display value="Hypothalamic hamartomas with gelastic seizures"/>
      </concept>
      <concept>
        <code value="86908"/>
        <display value="Idiopathic hemiconvulsion-hemiplegia syndrome"/>
      </concept>
      <concept>
        <code value="86909"/>
        <display value="Myoclonic epilepsy of infancy"/>
      </concept>
      <concept>
        <code value="86911"/>
        <display value="Epilepsy with myoclonic absences"/>
      </concept>
      <concept>
        <code value="86913"/>
        <display
                 value="Myoclonic epilepsy in non-progressive encephalopathies"/>
      </concept>
      <concept>
        <code value="86914"/>
        <display
                 value="Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome"/>
      </concept>
      <concept>
        <code value="86915"/>
        <display
                 value="Lymphedema-atrial septal defects-facial changes syndrome"/>
      </concept>
      <concept>
        <code value="86918"/>
        <display
                 value="Diffuse palmoplantar keratoderma-acrocyanosis syndrome"/>
      </concept>
      <concept>
        <code value="86919"/>
        <display
                 value="Keratosis palmaris et plantaris-clinodactyly syndrome"/>
      </concept>
      <concept>
        <code value="86920"/>
        <display value="Dermatopathia pigmentosa reticularis"/>
      </concept>
      <concept>
        <code value="86923"/>
        <display
                 value="Hereditary palmoplantar keratoderma, Gamborg-Nielsen type"/>
      </concept>
      <concept>
        <code value="87503"/>
        <display value="Mal de Meleda"/>
      </concept>
      <concept>
        <code value="87876"/>
        <display value="Sialidosis type 2"/>
      </concept>
      <concept>
        <code value="87884"/>
        <display value="Non-syndromic genetic deafness"/>
      </concept>
      <concept>
        <code value="88616"/>
        <display
                 value="Autosomal recessive non-syndromic intellectual disability"/>
      </concept>
      <concept>
        <code value="88618"/>
        <display value="S-adenosylhomocysteine hydrolase deficiency"/>
      </concept>
      <concept>
        <code value="88619"/>
        <display value="Familial acute necrotizing encephalopathy"/>
      </concept>
      <concept>
        <code value="88620"/>
        <display value="Isolated congenital anosmia"/>
      </concept>
      <concept>
        <code value="88621"/>
        <display value="Ichthyosis-prematurity syndrome"/>
      </concept>
      <concept>
        <code value="88628"/>
        <display
                 value="Posterior column ataxia-retinitis pigmentosa syndrome"/>
      </concept>
      <concept>
        <code value="88629"/>
        <display value="Tritanopia"/>
      </concept>
      <concept>
        <code value="88630"/>
        <display
                 value="Terminal osseous dysplasia-pigmentary defects syndrome"/>
      </concept>
      <concept>
        <code value="88633"/>
        <display value="Superior limbic keratoconjunctivitis"/>
      </concept>
      <concept>
        <code value="88635"/>
        <display
                 value="Vacuolar myopathy with sarcoplasmic reticulum protein aggregates"/>
      </concept>
      <concept>
        <code value="88637"/>
        <display
                 value="Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"/>
      </concept>
      <concept>
        <code value="88639"/>
        <display
                 value="Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency"/>
      </concept>
      <concept>
        <code value="88642"/>
        <display
                 value="Congenital insensitivity to pain-anosmia-neuropathic arthropathy"/>
      </concept>
      <concept>
        <code value="88643"/>
        <display
                 value="Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="88644"/>
        <display value="Autosomal recessive ataxia, Beauce type"/>
      </concept>
      <concept>
        <code value="88659"/>
        <display
                 value="Autosomal dominant progressive nephropathy with hypertension"/>
      </concept>
      <concept>
        <code value="88660"/>
        <display
                 value="Hypertension due to gain-of-function mutations in the mineralocorticoid receptor"/>
      </concept>
      <concept>
        <code value="88661"/>
        <display value="Amelogenesis imperfecta"/>
      </concept>
      <concept>
        <code value="88917"/>
        <display value="X-linked Alport syndrome"/>
      </concept>
      <concept>
        <code value="88918"/>
        <display value="Autosomal dominant Alport syndrome"/>
      </concept>
      <concept>
        <code value="88919"/>
        <display value="Autosomal recessive Alport syndrome"/>
      </concept>
      <concept>
        <code value="88924"/>
        <display
                 value="Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis"/>
      </concept>
      <concept>
        <code value="88938"/>
        <display value="Pseudohypoaldosteronism type 2A"/>
      </concept>
      <concept>
        <code value="88939"/>
        <display value="Pseudohypoaldosteronism type 2B"/>
      </concept>
      <concept>
        <code value="88940"/>
        <display value="Pseudohypoaldosteronism type 2C"/>
      </concept>
      <concept>
        <code value="88949"/>
        <display
                 value="MUC1-related autosomal dominant tubulointerstitial kidney disease"/>
      </concept>
      <concept>
        <code value="88950"/>
        <display
                 value="UMOD-related autosomal dominant tubulointerstitial kidney disease"/>
      </concept>
      <concept>
        <code value="89838"/>
        <display
                 value="Autosomal recessive generalized epidermolysis bullosa simplex"/>
      </concept>
      <concept>
        <code value="89842"/>
        <display
                 value="Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form"/>
      </concept>
      <concept>
        <code value="89843"/>
        <display value="Dystrophic epidermolysis bullosa pruriginosa"/>
      </concept>
      <concept>
        <code value="89844"/>
        <display value="Lissencephaly syndrome, Norman-Roberts type"/>
      </concept>
      <concept>
        <code value="89936"/>
        <display value="X-linked hypophosphatemia"/>
      </concept>
      <concept>
        <code value="89937"/>
        <display value="Autosomal dominant hypophosphatemic rickets"/>
      </concept>
      <concept>
        <code value="89938"/>
        <display value="Bartter syndrome type 4"/>
      </concept>
      <concept>
        <code value="90000"/>
        <display value="Erythema elevatum diutinum"/>
      </concept>
      <concept>
        <code value="90001"/>
        <display value="X-linked cone dysfunction syndrome with myopia"/>
      </concept>
      <concept>
        <code value="90002"/>
        <display value="Undifferentiated connective tissue syndrome"/>
      </concept>
      <concept>
        <code value="90003"/>
        <display value="Inflammatory pseudotumor of the liver"/>
      </concept>
      <concept>
        <code value="90020"/>
        <display value="Parkinson-dementia complex of Guam"/>
      </concept>
      <concept>
        <code value="90021"/>
        <display value="Radiation myelitis"/>
      </concept>
      <concept>
        <code value="90023"/>
        <display
                 value="Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency"/>
      </concept>
      <concept>
        <code value="90024"/>
        <display
                 value="Deafness with labyrinthine aplasia, microtia, and microdontia"/>
      </concept>
      <concept>
        <code value="90026"/>
        <display value="Primary erythromelalgia"/>
      </concept>
      <concept>
        <code value="90030"/>
        <display
                 value="Hemolytic anemia due to glutathione reductase deficiency"/>
      </concept>
      <concept>
        <code value="90031"/>
        <display
                 value="Non-spherocytic hemolytic anemia due to hexokinase deficiency"/>
      </concept>
      <concept>
        <code value="90033"/>
        <display value="Autoimmune hemolytic anemia, warm type"/>
      </concept>
      <concept>
        <code value="90035"/>
        <display value="Paroxysmal cold hemoglobinuria"/>
      </concept>
      <concept>
        <code value="90036"/>
        <display value="Mixed-type autoimmune hemolytic anemia"/>
      </concept>
      <concept>
        <code value="90037"/>
        <display value="Drug-induced autoimmune hemolytic anemia"/>
      </concept>
      <concept>
        <code value="90038"/>
        <display value="Shiga toxin-associated hemolytic uremic syndrome"/>
      </concept>
      <concept>
        <code value="90039"/>
        <display value="Hemoglobin D disease"/>
      </concept>
      <concept>
        <code value="90041"/>
        <display value="Gaisböck syndrome"/>
      </concept>
      <concept>
        <code value="90042"/>
        <display value="Primary familial polycythemia"/>
      </concept>
      <concept>
        <code value="90044"/>
        <display value="Familial pseudohyperkalemia"/>
      </concept>
      <concept>
        <code value="90045"/>
        <display value="Hereditary folate malabsorption"/>
      </concept>
      <concept>
        <code value="90050"/>
        <display value="Retinopathy of prematurity"/>
      </concept>
      <concept>
        <code value="90051"/>
        <display value="Sepsis in premature infants"/>
      </concept>
      <concept>
        <code value="90052"/>
        <display
                 value="Recurrent hepatitis C virus induced liver disease in liver transplant recipients"/>
      </concept>
      <concept>
        <code value="90053"/>
        <display
                 value="Complications after hematopoietic stem cell transplantation"/>
      </concept>
      <concept>
        <code value="90056"/>
        <display value="Moderate and severe traumatic brain injury"/>
      </concept>
      <concept>
        <code value="90058"/>
        <display value="Spinal cord injury"/>
      </concept>
      <concept>
        <code value="90059"/>
        <display value="Sudden sensorineural hearing loss"/>
      </concept>
      <concept>
        <code value="90060"/>
        <display value="Diffuse alveolar hemorrhage"/>
      </concept>
      <concept>
        <code value="90062"/>
        <display value="Acute liver failure"/>
      </concept>
      <concept>
        <code value="90064"/>
        <display value="Acute peripheral arterial occlusion"/>
      </concept>
      <concept>
        <code value="90065"/>
        <display value="Acquired aneurysmal subarachnoid hemorrhage"/>
      </concept>
      <concept>
        <code value="90066"/>
        <display
                 value="Pneumonia caused by Pseudomonas aeruginosa infection"/>
      </concept>
      <concept>
        <code value="90068"/>
        <display value="Cocaine intoxication"/>
      </concept>
      <concept>
        <code value="90069"/>
        <display value="Systemic monochloroacetate poisoning"/>
      </concept>
      <concept>
        <code value="90073"/>
        <display
                 value="Hepatitis B reinfection following liver transplantation"/>
      </concept>
      <concept>
        <code value="90076"/>
        <display value="Partial deep dermal and full thickness burns"/>
      </concept>
      <concept>
        <code value="90078"/>
        <display
                 value="Invasive infections due to vancomycin-resistant enterococci"/>
      </concept>
      <concept>
        <code value="90080"/>
        <display value="Scarring in glaucoma filtration surgical procedures"/>
      </concept>
      <concept>
        <code value="90081"/>
        <display value="AIDS wasting syndrome"/>
      </concept>
      <concept>
        <code value="90103"/>
        <display
                 value="Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="90117"/>
        <display
                 value="Hereditary motor and sensory neuropathy, Okinawa type"/>
      </concept>
      <concept>
        <code value="90118"/>
        <display
                 value="Severe early-onset axonal neuropathy due to MFN2 deficiency"/>
      </concept>
      <concept>
        <code value="90119"/>
        <display
                 value="Hereditary motor and sensory neuropathy with acrodystrophy"/>
      </concept>
      <concept>
        <code value="90120"/>
        <display value="Hereditary motor and sensory neuropathy type 6"/>
      </concept>
      <concept>
        <code value="90153"/>
        <display value="Mandibuloacral dysplasia with type A lipodystrophy"/>
      </concept>
      <concept>
        <code value="90154"/>
        <display value="Mandibuloacral dysplasia with type B lipodystrophy"/>
      </concept>
      <concept>
        <code value="90156"/>
        <display value="Centrifugal lipodystrophy"/>
      </concept>
      <concept>
        <code value="90157"/>
        <display value="Drug-induced localized lipodystrophy"/>
      </concept>
      <concept>
        <code value="90158"/>
        <display value="Idiopathic localized lipodystrophy"/>
      </concept>
      <concept>
        <code value="90159"/>
        <display value="Panniculitis-induced localized lipodystrophy"/>
      </concept>
      <concept>
        <code value="90160"/>
        <display value="Pressure-induced localized lipoatrophy"/>
      </concept>
      <concept>
        <code value="90186"/>
        <display value="Meige disease"/>
      </concept>
      <concept>
        <code value="90280"/>
        <display value="Chilblain lupus"/>
      </concept>
      <concept>
        <code value="90281"/>
        <display value="Discoid lupus erythematosus"/>
      </concept>
      <concept>
        <code value="90282"/>
        <display value="Hypertrophic or verrucous lupus erythematosus"/>
      </concept>
      <concept>
        <code value="90283"/>
        <display value="Lupus erythematosus tumidus"/>
      </concept>
      <concept>
        <code value="90285"/>
        <display value="Lupus erythematosus panniculitis"/>
      </concept>
      <concept>
        <code value="90289"/>
        <display value="Localized scleroderma"/>
      </concept>
      <concept>
        <code value="90291"/>
        <display value="Systemic sclerosis"/>
      </concept>
      <concept>
        <code value="90301"/>
        <display
                 value="Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome"/>
      </concept>
      <concept>
        <code value="90307"/>
        <display value="Parkes Weber syndrome"/>
      </concept>
      <concept>
        <code value="90308"/>
        <display value="Klippel-Trénaunay syndrome"/>
      </concept>
      <concept>
        <code value="90321"/>
        <display value="Cockayne syndrome type 1"/>
      </concept>
      <concept>
        <code value="90322"/>
        <display value="Cockayne syndrome type 2"/>
      </concept>
      <concept>
        <code value="90324"/>
        <display value="Cockayne syndrome type 3"/>
      </concept>
      <concept>
        <code value="90340"/>
        <display value="Blau syndrome"/>
      </concept>
      <concept>
        <code value="90342"/>
        <display value="Xeroderma pigmentosum variant"/>
      </concept>
      <concept>
        <code value="90348"/>
        <display value="Autosomal dominant cutis laxa"/>
      </concept>
      <concept>
        <code value="90349"/>
        <display value="Autosomal recessive cutis laxa type 1"/>
      </concept>
      <concept>
        <code value="90354"/>
        <display value="Brittle cornea syndrome"/>
      </concept>
      <concept>
        <code value="90362"/>
        <display value="Primary intestinal lymphangiectasia"/>
      </concept>
      <concept>
        <code value="90363"/>
        <display value="Secondary intestinal lymphangiectasia"/>
      </concept>
      <concept>
        <code value="90368"/>
        <display value="Hypotrichosis simplex of the scalp"/>
      </concept>
      <concept>
        <code value="90389"/>
        <display value="Telangiectasia macularis eruptiva perstans"/>
      </concept>
      <concept>
        <code value="90390"/>
        <display value="Anonychia-onychodystrophy syndrome"/>
      </concept>
      <concept>
        <code value="90393"/>
        <display value="Nodular lichen myxedematosus"/>
      </concept>
      <concept>
        <code value="90394"/>
        <display value="Discrete papular lichen myxedematosus"/>
      </concept>
      <concept>
        <code value="90395"/>
        <display value="Papular mucinosis of infancy"/>
      </concept>
      <concept>
        <code value="90396"/>
        <display value="Acral persistent papular mucinosis"/>
      </concept>
      <concept>
        <code value="90397"/>
        <display value="Self-healing papular mucinosis"/>
      </concept>
      <concept>
        <code value="90398"/>
        <display
                 value="Localized lichen myxedematosus with mixed features of different subtypes"/>
      </concept>
      <concept>
        <code value="90399"/>
        <display
                 value="Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms"/>
      </concept>
      <concept>
        <code value="90400"/>
        <display value="Scleromyxedema without monoclonal gammopathy"/>
      </concept>
      <concept>
        <code value="90625"/>
        <display
                 value="Rare X-linked non-syndromic sensorineural deafness type DFN"/>
      </concept>
      <concept>
        <code value="90635"/>
        <display
                 value="Rare autosomal dominant non-syndromic sensorineural deafness type DFNA"/>
      </concept>
      <concept>
        <code value="90636"/>
        <display
                 value="Rare autosomal recessive non-syndromic sensorineural deafness type DFNB"/>
      </concept>
      <concept>
        <code value="90641"/>
        <display
                 value="Rare mitochondrial non-syndromic sensorineural deafness"/>
      </concept>
      <concept>
        <code value="90646"/>
        <display value="Deafness-hypogonadism syndrome"/>
      </concept>
      <concept>
        <code value="90647"/>
        <display value="Jervell and Lange-Nielsen syndrome"/>
      </concept>
      <concept>
        <code value="90650"/>
        <display value="Otopalatodigital syndrome type 1"/>
      </concept>
      <concept>
        <code value="90652"/>
        <display value="Otopalatodigital syndrome type 2"/>
      </concept>
      <concept>
        <code value="90653"/>
        <display value="Stickler syndrome type 1"/>
      </concept>
      <concept>
        <code value="90654"/>
        <display value="Stickler syndrome type 2"/>
      </concept>
      <concept>
        <code value="90658"/>
        <display value="Charcot-Marie-Tooth disease type 1E"/>
      </concept>
      <concept>
        <code value="90673"/>
        <display value="Hypothyroidism due to TSH receptor mutations"/>
      </concept>
      <concept>
        <code value="90674"/>
        <display value="Isolated thyroid-stimulating hormone deficiency"/>
      </concept>
      <concept>
        <code value="90695"/>
        <display value="Non-acquired panhypopituitarism"/>
      </concept>
      <concept>
        <code value="90790"/>
        <display
                 value="Congenital lipoid adrenal hyperplasia due to STAR deficency"/>
      </concept>
      <concept>
        <code value="90791"/>
        <display
                 value="Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="90793"/>
        <display
                 value="Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency"/>
      </concept>
      <concept>
        <code value="90794"/>
        <display
                 value="Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"/>
      </concept>
      <concept>
        <code value="90795"/>
        <display
                 value="Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"/>
      </concept>
      <concept>
        <code value="90796"/>
        <display
                 value="46,XY difference of sex development due to isolated 17,20-lyase deficiency"/>
      </concept>
      <concept>
        <code value="90797"/>
        <display value="Partial androgen insensitivity syndrome"/>
      </concept>
      <concept>
        <code value="91127"/>
        <display value="Adenovirus infection in immunocompromised patients"/>
      </concept>
      <concept>
        <code value="91130"/>
        <display value="Cardiomyopathy-hypotonia-lactic acidosis syndrome"/>
      </concept>
      <concept>
        <code value="91131"/>
        <display value="DK1-CDG"/>
      </concept>
      <concept>
        <code value="91132"/>
        <display value="Ichthyosis-hypotrichosis syndrome"/>
      </concept>
      <concept>
        <code value="91135"/>
        <display
                 value="Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency"/>
      </concept>
      <concept>
        <code value="91136"/>
        <display
                 value="Acquired monoclonal Ig light chain-associated Fanconi syndrome"/>
      </concept>
      <concept>
        <code value="91138"/>
        <display value="Cryoglobulinemic vasculitis"/>
      </concept>
      <concept>
        <code value="91139"/>
        <display value="Simple cryoglobulinemia"/>
      </concept>
      <concept>
        <code value="91140"/>
        <display value="Unspecified juvenile idiopathic arthritis"/>
      </concept>
      <concept>
        <code value="91347"/>
        <display value="TSH-secreting pituitary adenoma"/>
      </concept>
      <concept>
        <code value="91348"/>
        <display value="Functioning gonadotropic adenoma"/>
      </concept>
      <concept>
        <code value="91349"/>
        <display value="Non-functioning pituitary adenoma"/>
      </concept>
      <concept>
        <code value="91350"/>
        <display value="Pituitary deficiency due to Rathke cleft cysts"/>
      </concept>
      <concept>
        <code value="91351"/>
        <display value="Pituitary dermoid and epidermoid cysts"/>
      </concept>
      <concept>
        <code value="91352"/>
        <display value="Germinoma of the central nervous system"/>
      </concept>
      <concept>
        <code value="91354"/>
        <display
                 value="Pituitary deficiency due to empty sella turcica syndrome"/>
      </concept>
      <concept>
        <code value="91355"/>
        <display value="Sheehan syndrome"/>
      </concept>
      <concept>
        <code value="91358"/>
        <display value="Congenital esophageal diverticulum"/>
      </concept>
      <concept>
        <code value="91359"/>
        <display value="Chronic pneumonitis of infancy"/>
      </concept>
      <concept>
        <code value="91364"/>
        <display value="Non-specific interstitial pneumonia"/>
      </concept>
      <concept>
        <code value="91387"/>
        <display
                 value="Familial thoracic aortic aneurysm and aortic dissection"/>
      </concept>
      <concept>
        <code value="91396"/>
        <display value="Isolated cryptophthalmia"/>
      </concept>
      <concept>
        <code value="91397"/>
        <display value="Isolated ankyloblepharon filiforme adnatum"/>
      </concept>
      <concept>
        <code value="91411"/>
        <display value="Congenital ptosis"/>
      </concept>
      <concept>
        <code value="91412"/>
        <display value="Marcus-Gunn syndrome"/>
      </concept>
      <concept>
        <code value="91413"/>
        <display value="Congenital Horner syndrome"/>
      </concept>
      <concept>
        <code value="91414"/>
        <display value="Pilomatrixoma"/>
      </concept>
      <concept>
        <code value="91416"/>
        <display value="Isolated congenital alacrima"/>
      </concept>
      <concept>
        <code value="91481"/>
        <display value="Ring dermoid of cornea"/>
      </concept>
      <concept>
        <code value="91483"/>
        <display value="Rieger anomaly"/>
      </concept>
      <concept>
        <code value="91489"/>
        <display value="Isolated congenital megalocornea"/>
      </concept>
      <concept>
        <code value="91490"/>
        <display value="Isolated congenital sclerocornea"/>
      </concept>
      <concept>
        <code value="91491"/>
        <display value="Congenital ectropion uveae"/>
      </concept>
      <concept>
        <code value="91492"/>
        <display value="Early onset non-syndromic cataract"/>
      </concept>
      <concept>
        <code value="91494"/>
        <display
                 value="Macular coloboma-cleft palate-hallux valgus syndrome"/>
      </concept>
      <concept>
        <code value="91495"/>
        <display value="Persistent hyperplastic primary vitreous"/>
      </concept>
      <concept>
        <code value="91496"/>
        <display value="Snowflake vitreoretinal degeneration"/>
      </concept>
      <concept>
        <code value="91498"/>
        <display value="Familial congenital palsy of trochlear nerve"/>
      </concept>
      <concept>
        <code value="91500"/>
        <display value="Tubulointerstitial nephritis and uveitis syndrome"/>
      </concept>
      <concept>
        <code value="91546"/>
        <display value="Lyme disease"/>
      </concept>
      <concept>
        <code value="91547"/>
        <display value="Relapsing fever"/>
      </concept>
      <concept>
        <code value="92050"/>
        <display value="Congenital tufting enteropathy"/>
      </concept>
      <concept>
        <code value="93100"/>
        <display value="Renal agenesis, unilateral"/>
      </concept>
      <concept>
        <code value="93101"/>
        <display value="Renal hypoplasia"/>
      </concept>
      <concept>
        <code value="93108"/>
        <display value="Renal dysplasia"/>
      </concept>
      <concept>
        <code value="93109"/>
        <display value="Congenital megacalycosis"/>
      </concept>
      <concept>
        <code value="93110"/>
        <display value="Posterior urethral valve"/>
      </concept>
      <concept>
        <code value="93111"/>
        <display
                 value="HNF1B-related autosomal dominant tubulointerstitial kidney disease"/>
      </concept>
      <concept>
        <code value="93114"/>
        <display
                 value="Autosomal dominant intermediate Charcot-Marie-Tooth disease type E"/>
      </concept>
      <concept>
        <code value="93126"/>
        <display value="Pauci-immune glomerulonephritis"/>
      </concept>
      <concept>
        <code value="93160"/>
        <display value="Hypocalcemic vitamin D-resistant rickets"/>
      </concept>
      <concept>
        <code value="93164"/>
        <display value="Transient pseudohypoaldosteronism"/>
      </concept>
      <concept>
        <code value="93172"/>
        <display value="Renal dysplasia, unilateral"/>
      </concept>
      <concept>
        <code value="93173"/>
        <display value="Renal dysplasia, bilateral"/>
      </concept>
      <concept>
        <code value="93176"/>
        <display value="Unilateral congenital megacalycosis"/>
      </concept>
      <concept>
        <code value="93177"/>
        <display value="Congenital bilateral megacalycosis"/>
      </concept>
      <concept>
        <code value="93256"/>
        <display value="Fragile X-associated tremor/ataxia syndrome"/>
      </concept>
      <concept>
        <code value="93258"/>
        <display value="Pfeiffer syndrome type 1"/>
      </concept>
      <concept>
        <code value="93259"/>
        <display value="Pfeiffer syndrome type 2"/>
      </concept>
      <concept>
        <code value="93260"/>
        <display value="Pfeiffer syndrome type 3"/>
      </concept>
      <concept>
        <code value="93262"/>
        <display value="Crouzon syndrome-acanthosis nigricans syndrome"/>
      </concept>
      <concept>
        <code value="93267"/>
        <display
                 value="Cloverleaf skull-multiple congenital anomalies syndrome"/>
      </concept>
      <concept>
        <code value="93268"/>
        <display value="Short rib-polydactyly syndrome, Beemer-Langer type"/>
      </concept>
      <concept>
        <code value="93269"/>
        <display value="Short rib-polydactyly syndrome, Majewski type"/>
      </concept>
      <concept>
        <code value="93270"/>
        <display value="Short rib-polydactyly syndrome, Saldino-Noonan type"/>
      </concept>
      <concept>
        <code value="93271"/>
        <display value="Short rib-polydactyly syndrome, Verma-Naumoff type"/>
      </concept>
      <concept>
        <code value="93274"/>
        <display value="Thanatophoric dysplasia type 2"/>
      </concept>
      <concept>
        <code value="93276"/>
        <display value="Polyostotic fibrous dysplasia"/>
      </concept>
      <concept>
        <code value="93277"/>
        <display value="Monostotic fibrous dysplasia"/>
      </concept>
      <concept>
        <code value="93279"/>
        <display
                 value="Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis"/>
      </concept>
      <concept>
        <code value="93282"/>
        <display value="Spondyloepimetaphyseal dysplasia, PAPSS2 type"/>
      </concept>
      <concept>
        <code value="93283"/>
        <display value="Spondyloepiphyseal dysplasia, Kimberley type"/>
      </concept>
      <concept>
        <code value="93284"/>
        <display value="Spondyloepiphyseal dysplasia tarda"/>
      </concept>
      <concept>
        <code value="93292"/>
        <display value="Adenoma of pancreas"/>
      </concept>
      <concept>
        <code value="93293"/>
        <display value="Okihiro syndrome"/>
      </concept>
      <concept>
        <code value="93296"/>
        <display value="Achondrogenesis type 2"/>
      </concept>
      <concept>
        <code value="93297"/>
        <display value="Hypochondrogenesis"/>
      </concept>
      <concept>
        <code value="93298"/>
        <display value="Achondrogenesis type 1B"/>
      </concept>
      <concept>
        <code value="93299"/>
        <display value="Achondrogenesis type 1A"/>
      </concept>
      <concept>
        <code value="93302"/>
        <display value="Brachyolmia, Maroteaux type"/>
      </concept>
      <concept>
        <code value="93304"/>
        <display value="Autosomal dominant brachyolmia"/>
      </concept>
      <concept>
        <code value="93307"/>
        <display value="Multiple epiphyseal dysplasia type 4"/>
      </concept>
      <concept>
        <code value="93308"/>
        <display value="Multiple epiphyseal dysplasia type 1"/>
      </concept>
      <concept>
        <code value="93311"/>
        <display value="Multiple epiphyseal dysplasia type 5"/>
      </concept>
      <concept>
        <code value="93314"/>
        <display value="Spondylometaphyseal dysplasia, Kozlowski type"/>
      </concept>
      <concept>
        <code value="93315"/>
        <display
                 value="Spondylometaphyseal dysplasia, 'corner fracture' type"/>
      </concept>
      <concept>
        <code value="93316"/>
        <display value="Spondylometaphyseal dysplasia, Schmidt type"/>
      </concept>
      <concept>
        <code value="93317"/>
        <display value="Spondylometaphyseal dysplasia, Sedaghatian type"/>
      </concept>
      <concept>
        <code value="93320"/>
        <display value="Isolated ulnar hemimelia"/>
      </concept>
      <concept>
        <code value="93321"/>
        <display value="Isolated radial hemimelia"/>
      </concept>
      <concept>
        <code value="93322"/>
        <display value="Isolated tibial hemimelia"/>
      </concept>
      <concept>
        <code value="93323"/>
        <display value="Isolated fibular hemimelia"/>
      </concept>
      <concept>
        <code value="93324"/>
        <display value="Autosomal recessive Kenny-Caffey syndrome"/>
      </concept>
      <concept>
        <code value="93325"/>
        <display value="Autosomal dominant Kenny-Caffey syndrome"/>
      </concept>
      <concept>
        <code value="93328"/>
        <display value="Autosomal dominant omodysplasia"/>
      </concept>
      <concept>
        <code value="93329"/>
        <display value="Autosomal recessive omodysplasia"/>
      </concept>
      <concept>
        <code value="93333"/>
        <display value="Pelviscapular dysplasia"/>
      </concept>
      <concept>
        <code value="93334"/>
        <display value="Postaxial polydactyly type A"/>
      </concept>
      <concept>
        <code value="93335"/>
        <display value="Postaxial polydactyly type B"/>
      </concept>
      <concept>
        <code value="93336"/>
        <display value="Polydactyly of a triphalangeal thumb"/>
      </concept>
      <concept>
        <code value="93337"/>
        <display value="Polydactyly of an index finger"/>
      </concept>
      <concept>
        <code value="93338"/>
        <display value="Polysyndactyly"/>
      </concept>
      <concept>
        <code value="93339"/>
        <display value="Polydactyly of a biphalangeal thumb and/or hallux"/>
      </concept>
      <concept>
        <code value="93346"/>
        <display
                 value="Spondyloepimetaphyseal dysplasia congenita, Strudwick type"/>
      </concept>
      <concept>
        <code value="93347"/>
        <display value="Anauxetic dysplasia"/>
      </concept>
      <concept>
        <code value="93349"/>
        <display value="X-linked spondyloepimetaphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="93351"/>
        <display value="Spondyloepimetaphyseal dysplasia, Irapa type"/>
      </concept>
      <concept>
        <code value="93352"/>
        <display value="Spondyloepimetaphyseal dysplasia, Shohat type"/>
      </concept>
      <concept>
        <code value="93356"/>
        <display value="Spondyloepimetaphyseal dysplasia, Missouri type"/>
      </concept>
      <concept>
        <code value="93357"/>
        <display value="SPONASTRIME dysplasia"/>
      </concept>
      <concept>
        <code value="93358"/>
        <display
                 value="Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"/>
      </concept>
      <concept>
        <code value="93360"/>
        <display
                 value="Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type"/>
      </concept>
      <concept>
        <code value="93372"/>
        <display value="Familial hypocalciuric hypercalcemia type 1"/>
      </concept>
      <concept>
        <code value="93382"/>
        <display value="Brachydactyly type A6"/>
      </concept>
      <concept>
        <code value="93383"/>
        <display value="Brachydactyly type B"/>
      </concept>
      <concept>
        <code value="93384"/>
        <display value="Brachydactyly type C"/>
      </concept>
      <concept>
        <code value="93387"/>
        <display value="Brachydactyly type E"/>
      </concept>
      <concept>
        <code value="93388"/>
        <display value="Brachydactyly type A1"/>
      </concept>
      <concept>
        <code value="93394"/>
        <display value="Brachydactyly type A4"/>
      </concept>
      <concept>
        <code value="93396"/>
        <display value="Brachydactyly type A2"/>
      </concept>
      <concept>
        <code value="93397"/>
        <display value="Brachydactyly type A7"/>
      </concept>
      <concept>
        <code value="93398"/>
        <display value="Genochondromatosis type 2"/>
      </concept>
      <concept>
        <code value="93399"/>
        <display value="Juvenile sialidosis type 2"/>
      </concept>
      <concept>
        <code value="93400"/>
        <display value="Congenital sialidosis type 2"/>
      </concept>
      <concept>
        <code value="93402"/>
        <display value="Syndactyly type 1"/>
      </concept>
      <concept>
        <code value="93403"/>
        <display value="Syndactyly type 2"/>
      </concept>
      <concept>
        <code value="93404"/>
        <display value="Syndactyly type 3"/>
      </concept>
      <concept>
        <code value="93405"/>
        <display value="Syndactyly type 4"/>
      </concept>
      <concept>
        <code value="93406"/>
        <display value="Syndactyly type 5"/>
      </concept>
      <concept>
        <code value="93409"/>
        <display value="Brachydactyly-syndactyly, Zhao type"/>
      </concept>
      <concept>
        <code value="93473"/>
        <display value="Hurler syndrome"/>
      </concept>
      <concept>
        <code value="93474"/>
        <display value="Scheie syndrome"/>
      </concept>
      <concept>
        <code value="93476"/>
        <display value="Hurler-Scheie syndrome"/>
      </concept>
      <concept>
        <code value="93552"/>
        <display value="Pediatric systemic lupus erythematosus"/>
      </concept>
      <concept>
        <code value="93554"/>
        <display value="Mixed cryoglobulinemia type II"/>
      </concept>
      <concept>
        <code value="93555"/>
        <display value="Mixed cryoglobulinemia type III"/>
      </concept>
      <concept>
        <code value="93556"/>
        <display value="Heavy chain deposition disease"/>
      </concept>
      <concept>
        <code value="93557"/>
        <display value="Light and heavy chain deposition disease"/>
      </concept>
      <concept>
        <code value="93558"/>
        <display value="Light chain deposition disease"/>
      </concept>
      <concept>
        <code value="93560"/>
        <display value="AApoAI amyloidosis"/>
      </concept>
      <concept>
        <code value="93561"/>
        <display value="ALys amyloidosis"/>
      </concept>
      <concept>
        <code value="93562"/>
        <display value="AFib amyloidosis"/>
      </concept>
      <concept>
        <code value="93568"/>
        <display value="Juvenile polymyositis"/>
      </concept>
      <concept>
        <code value="93571"/>
        <display value="Dense deposit disease"/>
      </concept>
      <concept>
        <code value="93581"/>
        <display
                 value="Atypical hemolytic uremic syndrome with anti-factor H antibodies"/>
      </concept>
      <concept>
        <code value="93583"/>
        <display value="Congenital thrombotic thrombocytopenic purpura"/>
      </concept>
      <concept>
        <code value="93585"/>
        <display value="Immune-mediated thrombotic thrombocytopenic purpura"/>
      </concept>
      <concept>
        <code value="93589"/>
        <display value="Late-onset nephronophthisis"/>
      </concept>
      <concept>
        <code value="93591"/>
        <display value="Infantile nephronophthisis"/>
      </concept>
      <concept>
        <code value="93592"/>
        <display value="Juvenile nephronophthisis"/>
      </concept>
      <concept>
        <code value="93598"/>
        <display value="Primary hyperoxaluria type 1"/>
      </concept>
      <concept>
        <code value="93599"/>
        <display value="Primary hyperoxaluria type 2"/>
      </concept>
      <concept>
        <code value="93600"/>
        <display value="Primary hyperoxaluria type 3"/>
      </concept>
      <concept>
        <code value="93601"/>
        <display value="Xanthinuria type I"/>
      </concept>
      <concept>
        <code value="93602"/>
        <display value="Xanthinuria type II"/>
      </concept>
      <concept>
        <code value="93605"/>
        <display value="Bartter syndrome type 3"/>
      </concept>
      <concept>
        <code value="93606"/>
        <display value="Nephrogenic syndrome of inappropriate antidiuresis"/>
      </concept>
      <concept>
        <code value="93607"/>
        <display value="Autosomal recessive proximal renal tubular acidosis"/>
      </concept>
      <concept>
        <code value="93608"/>
        <display value="Autosomal dominant distal renal tubular acidosis"/>
      </concept>
      <concept>
        <code value="93610"/>
        <display value="Distal renal tubular acidosis with anemia"/>
      </concept>
      <concept>
        <code value="93612"/>
        <display value="Cystinuria type A"/>
      </concept>
      <concept>
        <code value="93613"/>
        <display value="Cystinuria type B"/>
      </concept>
      <concept>
        <code value="93616"/>
        <display value="Hemoglobin H disease"/>
      </concept>
      <concept>
        <code value="93622"/>
        <display value="Dent disease type 1"/>
      </concept>
      <concept>
        <code value="93623"/>
        <display value="Dent disease type 2"/>
      </concept>
      <concept>
        <code value="93672"/>
        <display value="Juvenile dermatomyositis"/>
      </concept>
      <concept>
        <code value="93685"/>
        <display value="Unicentric Castleman disease"/>
      </concept>
      <concept>
        <code value="93921"/>
        <display value="Full schwannomatosis"/>
      </concept>
      <concept>
        <code value="93924"/>
        <display value="Lobar holoprosencephaly"/>
      </concept>
      <concept>
        <code value="93925"/>
        <display value="Alobar holoprosencephaly"/>
      </concept>
      <concept>
        <code value="93926"/>
        <display
                 value="Midline interhemispheric variant of holoprosencephaly"/>
      </concept>
      <concept>
        <code value="93928"/>
        <display value="Isolated epispadias"/>
      </concept>
      <concept>
        <code value="93929"/>
        <display value="Cloacal exstrophy"/>
      </concept>
      <concept>
        <code value="93930"/>
        <display value="Bladder exstrophy"/>
      </concept>
      <concept>
        <code value="93932"/>
        <display value="FG syndrome type 1"/>
      </concept>
      <concept>
        <code value="93938"/>
        <display value="Laryngotracheoesophageal cleft type 1"/>
      </concept>
      <concept>
        <code value="93939"/>
        <display value="Laryngotracheoesophageal cleft type 2"/>
      </concept>
      <concept>
        <code value="93940"/>
        <display value="Laryngotracheoesophageal cleft type 3"/>
      </concept>
      <concept>
        <code value="93941"/>
        <display value="Laryngotracheoesophageal cleft type 4"/>
      </concept>
      <concept>
        <code value="93945"/>
        <display value="X-linked intellectual disability, Porteous type"/>
      </concept>
      <concept>
        <code value="93946"/>
        <display value="Hamel cerebro-palato-cardiac syndrome"/>
      </concept>
      <concept>
        <code value="93947"/>
        <display
                 value="X-linked intellectual disability, Golabi-Ito-Hall type"/>
      </concept>
      <concept>
        <code value="93950"/>
        <display
                 value="X-linked intellectual disability, Sutherland-Haan type"/>
      </concept>
      <concept>
        <code value="93952"/>
        <display value="X-linked intellectual disability, Hedera type"/>
      </concept>
      <concept>
        <code value="93953"/>
        <display value="Familial thyroglossal duct cyst"/>
      </concept>
      <concept>
        <code value="93958"/>
        <display value="Oromandibular dystonia"/>
      </concept>
      <concept>
        <code value="93964"/>
        <display value="Blepharospasm-oromandibular dystonia syndrome"/>
      </concept>
      <concept>
        <code value="93969"/>
        <display value="Open spinal dysraphism with a myelomeningocele"/>
      </concept>
      <concept>
        <code value="93976"/>
        <display value="Anotia"/>
      </concept>
      <concept>
        <code value="94056"/>
        <display value="Isolated humero-ulnar synostosis"/>
      </concept>
      <concept>
        <code value="94058"/>
        <display value="Neovascular glaucoma"/>
      </concept>
      <concept>
        <code value="94059"/>
        <display value="Uremic pruritus"/>
      </concept>
      <concept>
        <code value="94063"/>
        <display value="12q14 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="94064"/>
        <display value="Deafness-infertility syndrome"/>
      </concept>
      <concept>
        <code value="94065"/>
        <display value="15q24 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="94066"/>
        <display
                 value="Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia"/>
      </concept>
      <concept>
        <code value="94068"/>
        <display value="Spondyloepiphyseal dysplasia congenita"/>
      </concept>
      <concept>
        <code value="94080"/>
        <display value="Non-functioning paraganglioma"/>
      </concept>
      <concept>
        <code value="94083"/>
        <display value="Partington syndrome"/>
      </concept>
      <concept>
        <code value="94086"/>
        <display value="Blue diaper syndrome"/>
      </concept>
      <concept>
        <code value="94087"/>
        <display value="Cytophagic histiocytic panniculitis"/>
      </concept>
      <concept>
        <code value="94088"/>
        <display value="Hereditary renal hypouricemia"/>
      </concept>
      <concept>
        <code value="94089"/>
        <display value="Pseudohypoparathyroidism type 1B"/>
      </concept>
      <concept>
        <code value="94090"/>
        <display value="Pseudohypoparathyroidism type 2"/>
      </concept>
      <concept>
        <code value="94091"/>
        <display value="Mills syndrome"/>
      </concept>
      <concept>
        <code value="94093"/>
        <display value="Neuroleptic malignant syndrome"/>
      </concept>
      <concept>
        <code value="94122"/>
        <display value="Cerebellar ataxia, Cayman type"/>
      </concept>
      <concept>
        <code value="94124"/>
        <display
                 value="Spinocerebellar ataxia with axonal neuropathy type 1"/>
      </concept>
      <concept>
        <code value="94125"/>
        <display value="Recessive mitochondrial ataxia syndrome"/>
      </concept>
      <concept>
        <code value="94147"/>
        <display value="Spinocerebellar ataxia type 7"/>
      </concept>
      <concept>
        <code value="94150"/>
        <display value="Anonychia congenita totalis"/>
      </concept>
      <concept>
        <code value="95159"/>
        <display value="Hepatoerythropoietic porphyria"/>
      </concept>
      <concept>
        <code value="95232"/>
        <display value="Lissencephaly due to LIS1 mutation"/>
      </concept>
      <concept>
        <code value="95409"/>
        <display value="Acute adrenal insufficiency"/>
      </concept>
      <concept>
        <code value="95427"/>
        <display value="Secondary short bowel syndrome"/>
      </concept>
      <concept>
        <code value="95428"/>
        <display value="COG8-CDG"/>
      </concept>
      <concept>
        <code value="95429"/>
        <display value="Angioma serpiginosum"/>
      </concept>
      <concept>
        <code value="95430"/>
        <display value="Congenital tracheomalacia"/>
      </concept>
      <concept>
        <code value="95431"/>
        <display value="Twin to twin transfusion syndrome"/>
      </concept>
      <concept>
        <code value="95433"/>
        <display
                 value="Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome"/>
      </concept>
      <concept>
        <code value="95434"/>
        <display
                 value="Autosomal recessive cerebellar ataxia-movement disorder syndrome"/>
      </concept>
      <concept>
        <code value="95443"/>
        <display value="Mesocardia"/>
      </concept>
      <concept>
        <code value="95448"/>
        <display value="Congenital aortic valve atresia"/>
      </concept>
      <concept>
        <code value="95455"/>
        <display
                 value="Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum"/>
      </concept>
      <concept>
        <code value="95457"/>
        <display value="Tricuspid valve agenesis"/>
      </concept>
      <concept>
        <code value="95459"/>
        <display value="Congenital tricuspid stenosis"/>
      </concept>
      <concept>
        <code value="95461"/>
        <display value="Straddling or overriding tricuspid valve"/>
      </concept>
      <concept>
        <code value="95462"/>
        <display value="Accessory tricuspid valve tissue"/>
      </concept>
      <concept>
        <code value="95465"/>
        <display value="Cleft mitral valve"/>
      </concept>
      <concept>
        <code value="95474"/>
        <display value="Double-orifice mitral valve"/>
      </concept>
      <concept>
        <code value="95486"/>
        <display value="Premature closure of the arterial duct"/>
      </concept>
      <concept>
        <code value="95491"/>
        <display value="Congenital coronary artery aneurysm"/>
      </concept>
      <concept>
        <code value="95494"/>
        <display
                 value="Combined pituitary hormone deficiencies, genetic forms"/>
      </concept>
      <concept>
        <code value="95496"/>
        <display value="Pituitary stalk interruption syndrome"/>
      </concept>
      <concept>
        <code value="95507"/>
        <display value="Congenital anomaly of hepatic vein"/>
      </concept>
      <concept>
        <code value="95512"/>
        <display value="Adenohypophysitis"/>
      </concept>
      <concept>
        <code value="95513"/>
        <display value="Panhypophysitis"/>
      </concept>
      <concept>
        <code value="95613"/>
        <display value="Pituitary apoplexy"/>
      </concept>
      <concept>
        <code value="95619"/>
        <display value="Post-traumatic pituitary deficiency"/>
      </concept>
      <concept>
        <code value="95626"/>
        <display value="Acquired arginine vasopressin deficiency"/>
      </concept>
      <concept>
        <code value="95699"/>
        <display
                 value="Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"/>
      </concept>
      <concept>
        <code value="95700"/>
        <display
                 value="Familial adrenal hypoplasia with absent pituitary luteinizing hormone"/>
      </concept>
      <concept>
        <code value="95702"/>
        <display value="X-linked adrenal hypoplasia congenita"/>
      </concept>
      <concept>
        <code value="95706"/>
        <display value="Non-syndromic posterior hypospadias"/>
      </concept>
      <concept>
        <code value="95707"/>
        <display value="Idiopathic isolated micropenis"/>
      </concept>
      <concept>
        <code value="95712"/>
        <display value="Thyroid ectopia"/>
      </concept>
      <concept>
        <code value="95713"/>
        <display value="Athyreosis"/>
      </concept>
      <concept>
        <code value="95715"/>
        <display
                 value="Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies"/>
      </concept>
      <concept>
        <code value="95716"/>
        <display value="Familial thyroid dyshormonogenesis"/>
      </concept>
      <concept>
        <code value="95717"/>
        <display value="Idiopathic congenital hypothyroidism"/>
      </concept>
      <concept>
        <code value="95719"/>
        <display value="Thyroid hemiagenesis"/>
      </concept>
      <concept>
        <code value="95720"/>
        <display value="Thyroid hypoplasia"/>
      </concept>
      <concept>
        <code value="95854"/>
        <display value="Levocardia"/>
      </concept>
      <concept>
        <code value="96055"/>
        <display value="Tetrasomy 21"/>
      </concept>
      <concept>
        <code value="96059"/>
        <display value="Mosaic trisomy 4"/>
      </concept>
      <concept>
        <code value="96060"/>
        <display value="Mosaic trisomy 5"/>
      </concept>
      <concept>
        <code value="96061"/>
        <display value="Mosaic trisomy 8"/>
      </concept>
      <concept>
        <code value="96063"/>
        <display value="Mosaic trisomy 10"/>
      </concept>
      <concept>
        <code value="96068"/>
        <display value="Mosaic trisomy 22"/>
      </concept>
      <concept>
        <code value="96069"/>
        <display value="Distal duplication 1p36"/>
      </concept>
      <concept>
        <code value="96070"/>
        <display value="Distal duplication 2p"/>
      </concept>
      <concept>
        <code value="96071"/>
        <display value="Distal duplication 3p"/>
      </concept>
      <concept>
        <code value="96072"/>
        <display value="4p16.3 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="96074"/>
        <display value="Distal duplication 7p"/>
      </concept>
      <concept>
        <code value="96076"/>
        <display
                 value="Beckwith-Wiedemann syndrome due to 11p15 microduplication"/>
      </concept>
      <concept>
        <code value="96078"/>
        <display value="16p13.3 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="96092"/>
        <display value="8p inverted duplication/deletion syndrome"/>
      </concept>
      <concept>
        <code value="96094"/>
        <display value="Distal duplication 2q"/>
      </concept>
      <concept>
        <code value="96095"/>
        <display value="3q26 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="96096"/>
        <display value="Distal duplication 4q"/>
      </concept>
      <concept>
        <code value="96097"/>
        <display value="Distal duplication 5q"/>
      </concept>
      <concept>
        <code value="96098"/>
        <display value="Distal duplication 6q"/>
      </concept>
      <concept>
        <code value="96100"/>
        <display value="Distal duplication 8q"/>
      </concept>
      <concept>
        <code value="96101"/>
        <display value="Distal duplication 9q"/>
      </concept>
      <concept>
        <code value="96102"/>
        <display value="Distal duplication 10q"/>
      </concept>
      <concept>
        <code value="96103"/>
        <display value="Distal duplication 11q"/>
      </concept>
      <concept>
        <code value="96105"/>
        <display value="Distal duplication 13q"/>
      </concept>
      <concept>
        <code value="96106"/>
        <display value="Distal duplication 16q"/>
      </concept>
      <concept>
        <code value="96107"/>
        <display value="Distal duplication 20q"/>
      </concept>
      <concept>
        <code value="96109"/>
        <display value="Distal duplication 22q"/>
      </concept>
      <concept>
        <code value="96112"/>
        <display value="Non-distal duplication 9q"/>
      </concept>
      <concept>
        <code value="96121"/>
        <display value="7q11.23 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="96123"/>
        <display value="Monosomy 22"/>
      </concept>
      <concept>
        <code value="96125"/>
        <display value="Distal deletion 6p"/>
      </concept>
      <concept>
        <code value="96126"/>
        <display value="Distal deletion 7p"/>
      </concept>
      <concept>
        <code value="96129"/>
        <display value="Distal deletion 19p"/>
      </concept>
      <concept>
        <code value="96145"/>
        <display value="Distal deletion 4q"/>
      </concept>
      <concept>
        <code value="96147"/>
        <display value="Kleefstra syndrome due to 9q34 microdeletion"/>
      </concept>
      <concept>
        <code value="96148"/>
        <display value="Distal deletion 10q"/>
      </concept>
      <concept>
        <code value="96149"/>
        <display value="Distal deletion 12q"/>
      </concept>
      <concept>
        <code value="96150"/>
        <display value="Distal deletion 14q"/>
      </concept>
      <concept>
        <code value="96160"/>
        <display value="Non-distal deletion 12q"/>
      </concept>
      <concept>
        <code value="96167"/>
        <display value="Recombinant 8 syndrome"/>
      </concept>
      <concept>
        <code value="96168"/>
        <display value="Monosomy 13q34"/>
      </concept>
      <concept>
        <code value="96169"/>
        <display value="Koolen-De Vries syndrome"/>
      </concept>
      <concept>
        <code value="96170"/>
        <display value="Emanuel syndrome"/>
      </concept>
      <concept>
        <code value="96171"/>
        <display value="Ring chromosome 2 syndrome"/>
      </concept>
      <concept>
        <code value="96172"/>
        <display value="Ring chromosome 3 syndrome"/>
      </concept>
      <concept>
        <code value="96173"/>
        <display value="Ring chromosome 9 syndrome"/>
      </concept>
      <concept>
        <code value="96175"/>
        <display value="Ring chromosome 11 syndrome"/>
      </concept>
      <concept>
        <code value="96176"/>
        <display value="Ring chromosome 13 syndrome"/>
      </concept>
      <concept>
        <code value="96177"/>
        <display value="Ring chromosome 15 syndrome"/>
      </concept>
      <concept>
        <code value="96178"/>
        <display value="Ring chromosome 16 syndrome"/>
      </concept>
      <concept>
        <code value="96179"/>
        <display value="Maternal uniparental disomy of chromosome 2"/>
      </concept>
      <concept>
        <code value="96180"/>
        <display value="Maternal uniparental disomy of chromosome 4"/>
      </concept>
      <concept>
        <code value="96181"/>
        <display value="Maternal uniparental disomy of chromosome 6"/>
      </concept>
      <concept>
        <code value="96182"/>
        <display
                 value="Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7"/>
      </concept>
      <concept>
        <code value="96183"/>
        <display value="Maternal uniparental disomy of chromosome 9"/>
      </concept>
      <concept>
        <code value="96184"/>
        <display
                 value="Temple syndrome due to maternal uniparental disomy of chromosome 14"/>
      </concept>
      <concept>
        <code value="96185"/>
        <display value="Maternal uniparental disomy of chromosome 16"/>
      </concept>
      <concept>
        <code value="96186"/>
        <display value="Maternal uniparental disomy of chromosome 20"/>
      </concept>
      <concept>
        <code value="96187"/>
        <display value="Maternal uniparental disomy of chromosome 21"/>
      </concept>
      <concept>
        <code value="96188"/>
        <display value="Maternal uniparental disomy of chromosome 22"/>
      </concept>
      <concept>
        <code value="96190"/>
        <display value="Paternal uniparental disomy of chromosome 5"/>
      </concept>
      <concept>
        <code value="96191"/>
        <display value="Paternal uniparental disomy of chromosome 6"/>
      </concept>
      <concept>
        <code value="96192"/>
        <display value="Paternal uniparental disomy of chromosome 7"/>
      </concept>
      <concept>
        <code value="96193"/>
        <display
                 value="Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11"/>
      </concept>
      <concept>
        <code value="96194"/>
        <display value="Paternal uniparental disomy of chromosome 20"/>
      </concept>
      <concept>
        <code value="96195"/>
        <display value="Paternal uniparental disomy of chromosome 21"/>
      </concept>
      <concept>
        <code value="96201"/>
        <display value="X small rings"/>
      </concept>
      <concept>
        <code value="96253"/>
        <display value="Cushing disease"/>
      </concept>
      <concept>
        <code value="96263"/>
        <display value="48,XXXY syndrome"/>
      </concept>
      <concept>
        <code value="96264"/>
        <display value="49,XXXXY syndrome"/>
      </concept>
      <concept>
        <code value="96265"/>
        <display
                 value="Leydig cell hypoplasia due to complete LH resistance"/>
      </concept>
      <concept>
        <code value="96266"/>
        <display value="Leydig cell hypoplasia due to partial LH resistance"/>
      </concept>
      <concept>
        <code value="96269"/>
        <display value="Isolated partial vaginal agenesis"/>
      </concept>
      <concept>
        <code value="96334"/>
        <display
                 value="Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14"/>
      </concept>
      <concept>
        <code value="97214"/>
        <display value="Eisenmenger syndrome"/>
      </concept>
      <concept>
        <code value="97229"/>
        <display value="Riboflavin transporter deficiency"/>
      </concept>
      <concept>
        <code value="97230"/>
        <display value="Solar urticaria"/>
      </concept>
      <concept>
        <code value="97232"/>
        <display value="Fingerprint body myopathy"/>
      </concept>
      <concept>
        <code value="97234"/>
        <display
                 value="Glycogen storage disease due to phosphoglycerate mutase deficiency"/>
      </concept>
      <concept>
        <code value="97238"/>
        <display value="Rippling muscle disease"/>
      </concept>
      <concept>
        <code value="97239"/>
        <display value="Reducing body myopathy"/>
      </concept>
      <concept>
        <code value="97240"/>
        <display value="Zebra body myopathy"/>
      </concept>
      <concept>
        <code value="97244"/>
        <display value="Rigid spine syndrome"/>
      </concept>
      <concept>
        <code value="97249"/>
        <display value="Pontocerebellar hypoplasia type 3"/>
      </concept>
      <concept>
        <code value="97252"/>
        <display value="Mega-cisterna magna"/>
      </concept>
      <concept>
        <code value="97261"/>
        <display value="GRFoma"/>
      </concept>
      <concept>
        <code value="97278"/>
        <display value="PPoma"/>
      </concept>
      <concept>
        <code value="97279"/>
        <display value="Insulinoma"/>
      </concept>
      <concept>
        <code value="97280"/>
        <display value="Glucagonoma"/>
      </concept>
      <concept>
        <code value="97282"/>
        <display value="VIPoma"/>
      </concept>
      <concept>
        <code value="97283"/>
        <display value="Somatostatinoma"/>
      </concept>
      <concept>
        <code value="97285"/>
        <display value="Thyroid lymphoma"/>
      </concept>
      <concept>
        <code value="97286"/>
        <display value="Carney-Stratakis syndrome"/>
      </concept>
      <concept>
        <code value="97287"/>
        <display value="Bronchial neuroendocrine tumor"/>
      </concept>
      <concept>
        <code value="97289"/>
        <display value="Thymic neuroendocrine tumor"/>
      </concept>
      <concept>
        <code value="97290"/>
        <display
                 value="Familial papillary thyroid carcinoma with renal papillary neoplasia"/>
      </concept>
      <concept>
        <code value="97292"/>
        <display value="Cardiogenic shock"/>
      </concept>
      <concept>
        <code value="97297"/>
        <display value="Bohring-Opitz syndrome"/>
      </concept>
      <concept>
        <code value="97330"/>
        <display value="Thoracic outlet syndrome"/>
      </concept>
      <concept>
        <code value="97332"/>
        <display value="Kienbock disease"/>
      </concept>
      <concept>
        <code value="97335"/>
        <display value="Osgood-Schlatter disease"/>
      </concept>
      <concept>
        <code value="97336"/>
        <display value="Panner disease"/>
      </concept>
      <concept>
        <code value="97337"/>
        <display value="Sinding-Larsen-Johansson disease"/>
      </concept>
      <concept>
        <code value="97338"/>
        <display value="Melanoma of soft tissue"/>
      </concept>
      <concept>
        <code value="97339"/>
        <display value="Dural sinus malformation"/>
      </concept>
      <concept>
        <code value="97340"/>
        <display value="Hunter-McAlpine syndrome"/>
      </concept>
      <concept>
        <code value="97341"/>
        <display value="Persistent placoid maculopathy"/>
      </concept>
      <concept>
        <code value="97345"/>
        <display value="ABri amyloidosis"/>
      </concept>
      <concept>
        <code value="97346"/>
        <display value="ADan amyloidosis"/>
      </concept>
      <concept>
        <code value="97349"/>
        <display value="Postencephalitic parkinsonism"/>
      </concept>
      <concept>
        <code value="97352"/>
        <display value="Pellagra"/>
      </concept>
      <concept>
        <code value="97353"/>
        <display value="Dementia pugilistica"/>
      </concept>
      <concept>
        <code value="97355"/>
        <display value="Caribbean parkinsonism"/>
      </concept>
      <concept>
        <code value="97360"/>
        <display value="Robinow syndrome"/>
      </concept>
      <concept>
        <code value="97361"/>
        <display value="Renal hypoplasia, unilateral"/>
      </concept>
      <concept>
        <code value="97362"/>
        <display value="Renal hypoplasia, bilateral"/>
      </concept>
      <concept>
        <code value="97363"/>
        <display value="Unilateral multicystic dysplastic kidney"/>
      </concept>
      <concept>
        <code value="97364"/>
        <display value="Bilateral multicystic dysplastic kidney"/>
      </concept>
      <concept>
        <code value="97366"/>
        <display value="Multiloculated renal cyst"/>
      </concept>
      <concept>
        <code value="97367"/>
        <display
                 value="Renal tubular dysgenesis due to twin-twin transfusion"/>
      </concept>
      <concept>
        <code value="97368"/>
        <display value="Drug-related renal tubular dysgenesis"/>
      </concept>
      <concept>
        <code value="97369"/>
        <display value="Renal tubular dysgenesis of genetic origin"/>
      </concept>
      <concept>
        <code value="97548"/>
        <display value="Right sided atrial isomerism"/>
      </concept>
      <concept>
        <code value="97560"/>
        <display value="Primary membranous glomerulonephritis"/>
      </concept>
      <concept>
        <code value="97563"/>
        <display value="Pauci-immune glomerulonephritis with ANCA"/>
      </concept>
      <concept>
        <code value="97564"/>
        <display value="Pauci-immune glomerulonephritis without ANCA"/>
      </concept>
      <concept>
        <code value="97566"/>
        <display value="Non-amyloid fibrillary glomerulopathy"/>
      </concept>
      <concept>
        <code value="97567"/>
        <display value="Immunotactoid glomerulopathy"/>
      </concept>
      <concept>
        <code value="97598"/>
        <display value="Congenital renal artery stenosis"/>
      </concept>
      <concept>
        <code value="97678"/>
        <display value="Maternal uniparental disomy of chromosome 13"/>
      </concept>
      <concept>
        <code value="97685"/>
        <display value="17q11 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="98267"/>
        <display value="Genetic non-syndromic obesity"/>
      </concept>
      <concept>
        <code value="98434"/>
        <display
                 value="Hereditary combined deficiency of vitamin K-dependent clotting factors"/>
      </concept>
      <concept>
        <code value="98606"/>
        <display value="Syndromic orbital border hypoplasia"/>
      </concept>
      <concept>
        <code value="98619"/>
        <display value="Rare isolated myopia"/>
      </concept>
      <concept>
        <code value="98673"/>
        <display value="Autosomal dominant optic atrophy, classic form"/>
      </concept>
      <concept>
        <code value="98676"/>
        <display value="Autosomal recessive isolated optic atrophy"/>
      </concept>
      <concept>
        <code value="98686"/>
        <display value="Congenital trochlear nerve palsy"/>
      </concept>
      <concept>
        <code value="98754"/>
        <display
                 value="Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15"/>
      </concept>
      <concept>
        <code value="98755"/>
        <display value="Spinocerebellar ataxia type 1"/>
      </concept>
      <concept>
        <code value="98756"/>
        <display value="Spinocerebellar ataxia type 2"/>
      </concept>
      <concept>
        <code value="98757"/>
        <display value="Spinocerebellar ataxia type 3"/>
      </concept>
      <concept>
        <code value="98758"/>
        <display value="Spinocerebellar ataxia type 6"/>
      </concept>
      <concept>
        <code value="98759"/>
        <display value="Spinocerebellar ataxia type 17"/>
      </concept>
      <concept>
        <code value="98760"/>
        <display value="Spinocerebellar ataxia type 8"/>
      </concept>
      <concept>
        <code value="98761"/>
        <display value="Spinocerebellar ataxia type 10"/>
      </concept>
      <concept>
        <code value="98762"/>
        <display value="Spinocerebellar ataxia type 12"/>
      </concept>
      <concept>
        <code value="98763"/>
        <display value="Spinocerebellar ataxia type 14"/>
      </concept>
      <concept>
        <code value="98764"/>
        <display value="Spinocerebellar ataxia type 27"/>
      </concept>
      <concept>
        <code value="98765"/>
        <display value="Spinocerebellar ataxia type 4"/>
      </concept>
      <concept>
        <code value="98766"/>
        <display value="Spinocerebellar ataxia type 5"/>
      </concept>
      <concept>
        <code value="98767"/>
        <display value="Spinocerebellar ataxia type 11"/>
      </concept>
      <concept>
        <code value="98768"/>
        <display value="Spinocerebellar ataxia type 13"/>
      </concept>
      <concept>
        <code value="98769"/>
        <display value="Spinocerebellar ataxia type 15/16"/>
      </concept>
      <concept>
        <code value="98771"/>
        <display value="Spinocerebellar ataxia type 18"/>
      </concept>
      <concept>
        <code value="98772"/>
        <display value="Spinocerebellar ataxia type 19/22"/>
      </concept>
      <concept>
        <code value="98773"/>
        <display value="Spinocerebellar ataxia type 21"/>
      </concept>
      <concept>
        <code value="98784"/>
        <display value="Autosomal dominant nocturnal frontal lobe epilepsy"/>
      </concept>
      <concept>
        <code value="98791"/>
        <display
                 value="Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16"/>
      </concept>
      <concept>
        <code value="98793"/>
        <display
                 value="Prader-Willi syndrome due to paternal 15q11q13 deletion"/>
      </concept>
      <concept>
        <code value="98794"/>
        <display value="Angelman syndrome due to maternal 15q11q13 deletion"/>
      </concept>
      <concept>
        <code value="98795"/>
        <display
                 value="Angelman syndrome due to paternal uniparental disomy of chromosome 15"/>
      </concept>
      <concept>
        <code value="98797"/>
        <display value="Isochromosomy Yp"/>
      </concept>
      <concept>
        <code value="98798"/>
        <display value="Isochromosomy Yq"/>
      </concept>
      <concept>
        <code value="98805"/>
        <display value="Primary dystonia, DYT4 type"/>
      </concept>
      <concept>
        <code value="98806"/>
        <display value="Primary dystonia, DYT6 type"/>
      </concept>
      <concept>
        <code value="98807"/>
        <display value="Primary dystonia, DYT13 type"/>
      </concept>
      <concept>
        <code value="98808"/>
        <display value="Autosomal dominant dopa-responsive dystonia"/>
      </concept>
      <concept>
        <code value="98809"/>
        <display value="Paroxysmal kinesigenic dyskinesia"/>
      </concept>
      <concept>
        <code value="98810"/>
        <display value="Paroxysmal non-kinesigenic dyskinesia"/>
      </concept>
      <concept>
        <code value="98811"/>
        <display value="Paroxysmal exertion-induced dyskinesia"/>
      </concept>
      <concept>
        <code value="98813"/>
        <display
                 value="Hypohidrotic ectodermal dysplasia with immunodeficiency"/>
      </concept>
      <concept>
        <code value="98815"/>
        <display
                 value="Benign childhood occipital epilepsy, Panayiotopoulos type"/>
      </concept>
      <concept>
        <code value="98816"/>
        <display value="Benign childhood occipital epilepsy, Gastaut type"/>
      </concept>
      <concept>
        <code value="98818"/>
        <display value="Landau-Kleffner syndrome"/>
      </concept>
      <concept>
        <code value="98819"/>
        <display value="Familial temporal lobe epilepsy"/>
      </concept>
      <concept>
        <code value="98820"/>
        <display value="Familial focal epilepsy with variable foci"/>
      </concept>
      <concept>
        <code value="98823"/>
        <display value="Chronic myelomonocytic leukemia"/>
      </concept>
      <concept>
        <code value="98824"/>
        <display value="Atypical chronic myeloid leukemia"/>
      </concept>
      <concept>
        <code value="98825"/>
        <display
                 value="Unclassified myelodysplastic/myeloproliferative disease"/>
      </concept>
      <concept>
        <code value="98826"/>
        <display value="Myelodysplastic neoplasm with low blasts"/>
      </concept>
      <concept>
        <code value="98827"/>
        <display value="Unclassified myelodysplastic syndrome"/>
      </concept>
      <concept>
        <code value="98829"/>
        <display
                 value="Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)"/>
      </concept>
      <concept>
        <code value="98831"/>
        <display value="Acute myeloid leukemia with 11q23 abnormalities"/>
      </concept>
      <concept>
        <code value="98832"/>
        <display value="Acute myeloid leukemia with minimal differentiation"/>
      </concept>
      <concept>
        <code value="98833"/>
        <display value="Acute myeloblastic leukemia without maturation"/>
      </concept>
      <concept>
        <code value="98834"/>
        <display value="Acute myeloblastic leukemia with maturation"/>
      </concept>
      <concept>
        <code value="98835"/>
        <display value="Acute undifferentiated leukemia"/>
      </concept>
      <concept>
        <code value="98838"/>
        <display value="Primary mediastinal large B-cell lymphoma"/>
      </concept>
      <concept>
        <code value="98839"/>
        <display value="Intravascular large B-cell lymphoma"/>
      </concept>
      <concept>
        <code value="98841"/>
        <display value="Anaplastic large cell lymphoma"/>
      </concept>
      <concept>
        <code value="98842"/>
        <display value="Lymphomatoid papulosis"/>
      </concept>
      <concept>
        <code value="98843"/>
        <display value="Classic Hodgkin lymphoma, nodular sclerosis type"/>
      </concept>
      <concept>
        <code value="98844"/>
        <display value="Classic Hodgkin lymphoma, mixed cellularity type"/>
      </concept>
      <concept>
        <code value="98845"/>
        <display value="Classic Hodgkin lymphoma, lymphocyte-rich type"/>
      </concept>
      <concept>
        <code value="98846"/>
        <display value="Classic Hodgkin lymphoma, lymphocyte-depleted type"/>
      </concept>
      <concept>
        <code value="98848"/>
        <display value="Indolent systemic mastocytosis"/>
      </concept>
      <concept>
        <code value="98849"/>
        <display
                 value="Systemic mastocytosis with associated hematologic neoplasm"/>
      </concept>
      <concept>
        <code value="98850"/>
        <display value="Aggressive systemic mastocytosis"/>
      </concept>
      <concept>
        <code value="98851"/>
        <display value="Mast cell leukemia"/>
      </concept>
      <concept>
        <code value="98852"/>
        <display value="Desquamative interstitial pneumonia"/>
      </concept>
      <concept>
        <code value="98853"/>
        <display
                 value="Autosomal dominant Emery-Dreifuss muscular dystrophy"/>
      </concept>
      <concept>
        <code value="98855"/>
        <display
                 value="Autosomal recessive Emery-Dreifuss muscular dystrophy"/>
      </concept>
      <concept>
        <code value="98856"/>
        <display value="Charcot-Marie-Tooth disease type 2B1"/>
      </concept>
      <concept>
        <code value="98863"/>
        <display value="X-linked Emery-Dreifuss muscular dystrophy"/>
      </concept>
      <concept>
        <code value="98868"/>
        <display value="Southeast Asian ovalocytosis"/>
      </concept>
      <concept>
        <code value="98869"/>
        <display value="Congenital dyserythropoietic anemia type I"/>
      </concept>
      <concept>
        <code value="98870"/>
        <display value="Congenital dyserythropoietic anemia type III"/>
      </concept>
      <concept>
        <code value="98871"/>
        <display value="Transient erythroblastopenia of childhood"/>
      </concept>
      <concept>
        <code value="98872"/>
        <display value="Primary acquired pure red cell aplasia"/>
      </concept>
      <concept>
        <code value="98873"/>
        <display value="Congenital dyserythropoietic anemia type II"/>
      </concept>
      <concept>
        <code value="98878"/>
        <display value="Hemophilia A"/>
      </concept>
      <concept>
        <code value="98879"/>
        <display value="Hemophilia B"/>
      </concept>
      <concept>
        <code value="98880"/>
        <display value="Familial afibrinogenemia"/>
      </concept>
      <concept>
        <code value="98881"/>
        <display value="Familial dysfibrinogenemia"/>
      </concept>
      <concept>
        <code value="98885"/>
        <display
                 value="Bleeding diathesis due to glycoprotein VI deficiency"/>
      </concept>
      <concept>
        <code value="98886"/>
        <display
                 value="Bleeding diathesis due to integrin alpha2-beta1 deficiency"/>
      </concept>
      <concept>
        <code value="98889"/>
        <display value="Bilateral perisylvian polymicrogyria"/>
      </concept>
      <concept>
        <code value="98890"/>
        <display value="Early-onset X-linked optic atrophy"/>
      </concept>
      <concept>
        <code value="98892"/>
        <display value="Periventricular nodular heterotopia"/>
      </concept>
      <concept>
        <code value="98893"/>
        <display value="Congenital muscular dystrophy type 1B"/>
      </concept>
      <concept>
        <code value="98895"/>
        <display value="Becker muscular dystrophy"/>
      </concept>
      <concept>
        <code value="98896"/>
        <display value="Duchenne muscular dystrophy"/>
      </concept>
      <concept>
        <code value="98897"/>
        <display value="Oculopharyngodistal myopathy"/>
      </concept>
      <concept>
        <code value="98902"/>
        <display value="Amish nemaline myopathy"/>
      </concept>
      <concept>
        <code value="98904"/>
        <display value="Congenital myopathy with excess of thin filaments"/>
      </concept>
      <concept>
        <code value="98905"/>
        <display
                 value="Congenital multicore myopathy with external ophthalmoplegia"/>
      </concept>
      <concept>
        <code value="98907"/>
        <display value="Neutral lipid storage disease with ichthyosis"/>
      </concept>
      <concept>
        <code value="98908"/>
        <display value="Neutral lipid storage disease with myopathy"/>
      </concept>
      <concept>
        <code value="98909"/>
        <display value="Desminopathy"/>
      </concept>
      <concept>
        <code value="98911"/>
        <display value="Distal myotilinopathy"/>
      </concept>
      <concept>
        <code value="98912"/>
        <display value="Late-onset distal myopathy, Markesbery-Griggs type"/>
      </concept>
      <concept>
        <code value="98913"/>
        <display value="Postsynaptic congenital myasthenic syndromes"/>
      </concept>
      <concept>
        <code value="98914"/>
        <display value="Presynaptic congenital myasthenic syndromes"/>
      </concept>
      <concept>
        <code value="98915"/>
        <display value="Synaptic congenital myasthenic syndromes"/>
      </concept>
      <concept>
        <code value="98916"/>
        <display
                 value="Acute inflammatory demyelinating polyradiculoneuropathy"/>
      </concept>
      <concept>
        <code value="98917"/>
        <display value="Acute motor and sensory axonal neuropathy"/>
      </concept>
      <concept>
        <code value="98918"/>
        <display value="Acute motor axonal neuropathy"/>
      </concept>
      <concept>
        <code value="98919"/>
        <display value="Miller Fisher syndrome"/>
      </concept>
      <concept>
        <code value="98920"/>
        <display
                 value="Spinal muscular atrophy with respiratory distress type 1"/>
      </concept>
      <concept>
        <code value="98922"/>
        <display value="Blake pouch cyst"/>
      </concept>
      <concept>
        <code value="98933"/>
        <display value="Multiple system atrophy, parkinsonian type"/>
      </concept>
      <concept>
        <code value="98934"/>
        <display value="Huntington disease-like 2"/>
      </concept>
      <concept>
        <code value="98938"/>
        <display value="Colobomatous microphthalmia"/>
      </concept>
      <concept>
        <code value="98942"/>
        <display value="Coloboma of choroid and retina"/>
      </concept>
      <concept>
        <code value="98943"/>
        <display value="Coloboma of eye lens"/>
      </concept>
      <concept>
        <code value="98944"/>
        <display value="Coloboma of iris"/>
      </concept>
      <concept>
        <code value="98945"/>
        <display value="Coloboma of macula"/>
      </concept>
      <concept>
        <code value="98946"/>
        <display value="Coloboma of eyelid"/>
      </concept>
      <concept>
        <code value="98947"/>
        <display value="Coloboma of optic disc"/>
      </concept>
      <concept>
        <code value="98948"/>
        <display value="Congenital symblepharon"/>
      </concept>
      <concept>
        <code value="98949"/>
        <display value="Complete cryptophthalmia"/>
      </concept>
      <concept>
        <code value="98950"/>
        <display value="Partial cryptophthalmia"/>
      </concept>
      <concept>
        <code value="98951"/>
        <display value="Inverse Marcus-Gunn phenomenon"/>
      </concept>
      <concept>
        <code value="98954"/>
        <display value="Meesmann corneal dystrophy"/>
      </concept>
      <concept>
        <code value="98955"/>
        <display value="Lisch epithelial corneal dystrophy"/>
      </concept>
      <concept>
        <code value="98956"/>
        <display value="Epithelial basement membrane dystrophy"/>
      </concept>
      <concept>
        <code value="98957"/>
        <display value="Gelatinous drop-like corneal dystrophy"/>
      </concept>
      <concept>
        <code value="98958"/>
        <display value="Climatic droplet keratopathy"/>
      </concept>
      <concept>
        <code value="98959"/>
        <display value="Subepithelial mucinous corneal dystrophy"/>
      </concept>
      <concept>
        <code value="98960"/>
        <display value="Thiel-Behnke corneal dystrophy"/>
      </concept>
      <concept>
        <code value="98961"/>
        <display value="Reis-Bücklers corneal dystrophy"/>
      </concept>
      <concept>
        <code value="98962"/>
        <display value="Granular corneal dystrophy type I"/>
      </concept>
      <concept>
        <code value="98963"/>
        <display value="Granular corneal dystrophy type II"/>
      </concept>
      <concept>
        <code value="98964"/>
        <display value="Lattice corneal dystrophy type I"/>
      </concept>
      <concept>
        <code value="98967"/>
        <display value="Schnyder corneal dystrophy"/>
      </concept>
      <concept>
        <code value="98969"/>
        <display value="Macular corneal dystrophy"/>
      </concept>
      <concept>
        <code value="98970"/>
        <display value="Fleck corneal dystrophy"/>
      </concept>
      <concept>
        <code value="98971"/>
        <display value="Posterior amorphous corneal dystrophy"/>
      </concept>
      <concept>
        <code value="98972"/>
        <display value="Central cloudy dystrophy of François"/>
      </concept>
      <concept>
        <code value="98973"/>
        <display value="Posterior polymorphous corneal dystrophy"/>
      </concept>
      <concept>
        <code value="98974"/>
        <display value="Fuchs endothelial corneal dystrophy"/>
      </concept>
      <concept>
        <code value="98976"/>
        <display value="Congenital glaucoma"/>
      </concept>
      <concept>
        <code value="98977"/>
        <display value="Juvenile glaucoma"/>
      </concept>
      <concept>
        <code value="98978"/>
        <display value="Axenfeld anomaly"/>
      </concept>
      <concept>
        <code value="98979"/>
        <display value="Chandler syndrome"/>
      </concept>
      <concept>
        <code value="98980"/>
        <display value="Cogan-Reese syndrome"/>
      </concept>
      <concept>
        <code value="98981"/>
        <display value="Essential iris atrophy"/>
      </concept>
      <concept>
        <code value="98984"/>
        <display value="Pulverulent cataract"/>
      </concept>
      <concept>
        <code value="98985"/>
        <display value="Early-onset sutural cataract"/>
      </concept>
      <concept>
        <code value="98988"/>
        <display value="Early-onset anterior polar cataract"/>
      </concept>
      <concept>
        <code value="98989"/>
        <display value="Cerulean cataract"/>
      </concept>
      <concept>
        <code value="98990"/>
        <display value="Coralliform cataract"/>
      </concept>
      <concept>
        <code value="98991"/>
        <display value="Early-onset nuclear cataract"/>
      </concept>
      <concept>
        <code value="98992"/>
        <display value="Early-onset partial cataract"/>
      </concept>
      <concept>
        <code value="98993"/>
        <display value="Early-onset posterior polar cataract"/>
      </concept>
      <concept>
        <code value="98994"/>
        <display value="Total early-onset cataract"/>
      </concept>
      <concept>
        <code value="98995"/>
        <display value="Early-onset zonular cataract"/>
      </concept>
      <concept>
        <code value="99000"/>
        <display value="Adult-onset foveomacular vitelliform dystrophy"/>
      </concept>
      <concept>
        <code value="99001"/>
        <display value="Butterfly-shaped pigment dystrophy"/>
      </concept>
      <concept>
        <code value="99002"/>
        <display
                 value="Reticular dystrophy of the retinal pigment epithelium"/>
      </concept>
      <concept>
        <code value="99003"/>
        <display
                 value="Multifocal pattern dystrophy simulating fundus flavimaculatus"/>
      </concept>
      <concept>
        <code value="99004"/>
        <display value="Fundus pulverulentus"/>
      </concept>
      <concept>
        <code value="99013"/>
        <display value="Spastic paraplegia type 7"/>
      </concept>
      <concept>
        <code value="99014"/>
        <display value="X-linked Charcot-Marie-Tooth disease type 5"/>
      </concept>
      <concept>
        <code value="99015"/>
        <display value="Spastic paraplegia type 2"/>
      </concept>
      <concept>
        <code value="99027"/>
        <display value="Adult-onset autosomal dominant leukodystrophy"/>
      </concept>
      <concept>
        <code value="99042"/>
        <display
                 value="Congenitally uncorrected transposition of the great arteries with coarctation"/>
      </concept>
      <concept>
        <code value="99043"/>
        <display
                 value="Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis"/>
      </concept>
      <concept>
        <code value="99045"/>
        <display
                 value="Double outlet right ventricle with subpulmonary ventricular septal defect"/>
      </concept>
      <concept>
        <code value="99046"/>
        <display
                 value="Double outlet right ventricle with non-committed subpulmonary ventricular septal defect"/>
      </concept>
      <concept>
        <code value="99048"/>
        <display
                 value="Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome"/>
      </concept>
      <concept>
        <code value="99049"/>
        <display
                 value="Pulmonary artery coming from patent ductus arteriosus"/>
      </concept>
      <concept>
        <code value="99050"/>
        <display
                 value="Abnormal origin of right or left pulmonary artery from the aorta"/>
      </concept>
      <concept>
        <code value="99051"/>
        <display value="Discrete fixed membranous subaortic stenosis"/>
      </concept>
      <concept>
        <code value="99052"/>
        <display value="Discrete fibromuscular subaortic stenosis"/>
      </concept>
      <concept>
        <code value="99053"/>
        <display value="Tunnel subaortic stenosis"/>
      </concept>
      <concept>
        <code value="99054"/>
        <display value="Valvular pulmonary stenosis"/>
      </concept>
      <concept>
        <code value="99055"/>
        <display value="Congenital anomaly of the tricuspid valve chordae"/>
      </concept>
      <concept>
        <code value="99056"/>
        <display value="Parachute tricuspid valve"/>
      </concept>
      <concept>
        <code value="99057"/>
        <display value="Congenital mitral stenosis"/>
      </concept>
      <concept>
        <code value="99058"/>
        <display value="Hypoplasia of the mitral valve annulus"/>
      </concept>
      <concept>
        <code value="99059"/>
        <display value="Congenital supravalvular mitral ring"/>
      </concept>
      <concept>
        <code value="99060"/>
        <display value="Congenital unguarded mitral orifice"/>
      </concept>
      <concept>
        <code value="99061"/>
        <display value="Accessory mitral valve tissue"/>
      </concept>
      <concept>
        <code value="99062"/>
        <display value="Mitral valve agenesis"/>
      </concept>
      <concept>
        <code value="99063"/>
        <display value="Shone complex"/>
      </concept>
      <concept>
        <code value="99064"/>
        <display value="Straddling and/or overriding mitral valve"/>
      </concept>
      <concept>
        <code value="99067"/>
        <display
                 value="Complete atrioventricular septal defect with ventricular hypoplasia"/>
      </concept>
      <concept>
        <code value="99068"/>
        <display
                 value="Complete atrioventricular septal defect-tetralogy of Fallot"/>
      </concept>
      <concept>
        <code value="99070"/>
        <display value="Aorto-right ventricular tunnel"/>
      </concept>
      <concept>
        <code value="99071"/>
        <display value="Aorto-left ventricular tunnel"/>
      </concept>
      <concept>
        <code value="99072"/>
        <display value="Congenital patent ductus arteriosus aneurysm"/>
      </concept>
      <concept>
        <code value="99075"/>
        <display value="Encircling double aortic arch"/>
      </concept>
      <concept>
        <code value="99076"/>
        <display value="Persistent fifth aortic arch"/>
      </concept>
      <concept>
        <code value="99077"/>
        <display value="Kommerell diverticulum"/>
      </concept>
      <concept>
        <code value="99078"/>
        <display value="Neuhauser anomaly"/>
      </concept>
      <concept>
        <code value="99079"/>
        <display value="Cervical aortic arch"/>
      </concept>
      <concept>
        <code value="99081"/>
        <display value="Right aortic arch"/>
      </concept>
      <concept>
        <code value="99082"/>
        <display value="Dysphagia lusoria"/>
      </concept>
      <concept>
        <code value="99083"/>
        <display value="Pulmonary artery hypoplasia"/>
      </concept>
      <concept>
        <code value="99084"/>
        <display value="Peripheral pulmonary stenosis"/>
      </concept>
      <concept>
        <code value="99087"/>
        <display value="Coronary ostial stenosis or atresia"/>
      </concept>
      <concept>
        <code value="99089"/>
        <display value="Abnormal number of coronary ostia"/>
      </concept>
      <concept>
        <code value="99090"/>
        <display value="Malposition of a coronary ostium"/>
      </concept>
      <concept>
        <code value="99092"/>
        <display value="Interventricular septum aneurysm"/>
      </concept>
      <concept>
        <code value="99094"/>
        <display value="Laubry-Pezzi syndrome"/>
      </concept>
      <concept>
        <code value="99095"/>
        <display value="Congenital Gerbode defect"/>
      </concept>
      <concept>
        <code value="99098"/>
        <display value="Cor triatriatum dexter"/>
      </concept>
      <concept>
        <code value="99099"/>
        <display value="Cor triatriatum sinister"/>
      </concept>
      <concept>
        <code value="99100"/>
        <display value="Juxtaposition of the atrial appendages"/>
      </concept>
      <concept>
        <code value="99101"/>
        <display value="Ectasia of the right atrial appendage"/>
      </concept>
      <concept>
        <code value="99102"/>
        <display value="Ectasia of the left atrial appendage"/>
      </concept>
      <concept>
        <code value="99103"/>
        <display value="Atrial septal defect, ostium secundum type"/>
      </concept>
      <concept>
        <code value="99104"/>
        <display value="Atrial septal defect, coronary sinus type"/>
      </concept>
      <concept>
        <code value="99105"/>
        <display value="Atrial septal defect, sinus venosus type"/>
      </concept>
      <concept>
        <code value="99106"/>
        <display value="Atrial septal defect, ostium primum type"/>
      </concept>
      <concept>
        <code value="99107"/>
        <display value="Atrial septal aneurysm"/>
      </concept>
      <concept>
        <code value="99109"/>
        <display
                 value="Persistent left superior vena cava connecting through coronary sinus to left-sided atrium"/>
      </concept>
      <concept>
        <code value="99110"/>
        <display
                 value="Right superior vena cava connecting to left-sided atrium"/>
      </concept>
      <concept>
        <code value="99111"/>
        <display
                 value="Persistent left superior vena cava connecting to the roof of left-sided atrium"/>
      </concept>
      <concept>
        <code value="99112"/>
        <display value="Absence of innominate vein"/>
      </concept>
      <concept>
        <code value="99113"/>
        <display value="Subaortic course of innominate vein"/>
      </concept>
      <concept>
        <code value="99114"/>
        <display value="Agenesis of the superior vena cava"/>
      </concept>
      <concept>
        <code value="99117"/>
        <display value="Coronary sinus stenosis"/>
      </concept>
      <concept>
        <code value="99118"/>
        <display value="Coronary sinus atresia"/>
      </concept>
      <concept>
        <code value="99119"/>
        <display
                 value="Right inferior vena cava connecting to left-sided atrium"/>
      </concept>
      <concept>
        <code value="99120"/>
        <display value="Persistent eustachian valve"/>
      </concept>
      <concept>
        <code value="99121"/>
        <display value="Azygos continuation of the inferior vena cava"/>
      </concept>
      <concept>
        <code value="99122"/>
        <display value="Congenital stenosis of the inferior vena cava"/>
      </concept>
      <concept>
        <code value="99123"/>
        <display
                 value="Inferior vena cava interruption without azygos continuation"/>
      </concept>
      <concept>
        <code value="99124"/>
        <display value="Congenital partial pulmonary venous return anomaly"/>
      </concept>
      <concept>
        <code value="99125"/>
        <display value="Congenital total pulmonary venous return anomaly"/>
      </concept>
      <concept>
        <code value="99126"/>
        <display value="Congenital pulmonary vein atresia"/>
      </concept>
      <concept>
        <code value="99129"/>
        <display value="Congenital complete agenesis of pericardium"/>
      </concept>
      <concept>
        <code value="99130"/>
        <display value="Congenital partial agenesis of pericardium"/>
      </concept>
      <concept>
        <code value="99131"/>
        <display value="Pleuro-pericardial cyst"/>
      </concept>
      <concept>
        <code value="99135"/>
        <display value="6-phosphogluconate dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="99138"/>
        <display
                 value="Hemolytic anemia due to erythrocyte adenosine deaminase overproduction"/>
      </concept>
      <concept>
        <code value="99139"/>
        <display value="Unstable hemoglobin disease"/>
      </concept>
      <concept>
        <code value="99141"/>
        <display value="Lymphedema-posterior choanal atresia syndrome"/>
      </concept>
      <concept>
        <code value="99147"/>
        <display value="Acquired von Willebrand syndrome"/>
      </concept>
      <concept>
        <code value="99169"/>
        <display value="Epiblepharon"/>
      </concept>
      <concept>
        <code value="99170"/>
        <display value="Tarsal kink syndrome"/>
      </concept>
      <concept>
        <code value="99171"/>
        <display value="Isolated congenital ectropion"/>
      </concept>
      <concept>
        <code value="99172"/>
        <display value="Euryblepharon"/>
      </concept>
      <concept>
        <code value="99176"/>
        <display value="Congenital eyelid retraction"/>
      </concept>
      <concept>
        <code value="99177"/>
        <display value="Isolated distichiasis"/>
      </concept>
      <concept>
        <code value="99179"/>
        <display value="Kandori fleck retina"/>
      </concept>
      <concept>
        <code value="99226"/>
        <display value="Monosomy X"/>
      </concept>
      <concept>
        <code value="99228"/>
        <display value="Mosaic monosomy X"/>
      </concept>
      <concept>
        <code value="99324"/>
        <display value="Paternal uniparental disomy of chromosome 13"/>
      </concept>
      <concept>
        <code value="99329"/>
        <display value="48,XYYY syndrome"/>
      </concept>
      <concept>
        <code value="99330"/>
        <display value="49,XYYYY syndrome"/>
      </concept>
      <concept>
        <code value="99361"/>
        <display value="Familial medullary thyroid carcinoma"/>
      </concept>
      <concept>
        <code value="99413"/>
        <display
                 value="Turner syndrome due to structural X chromosome anomalies"/>
      </concept>
      <concept>
        <code value="99429"/>
        <display value="Complete androgen insensitivity syndrome"/>
      </concept>
      <concept>
        <code value="99642"/>
        <display value="Spondyloepimetaphyseal dysplasia, Handigodu type"/>
      </concept>
      <concept>
        <code value="99646"/>
        <display
                 value="Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria"/>
      </concept>
      <concept>
        <code value="99657"/>
        <display value="Primary dystonia, DYT2 type"/>
      </concept>
      <concept>
        <code value="99672"/>
        <display value="Fried's tooth and nail syndrome"/>
      </concept>
      <concept>
        <code value="99688"/>
        <display value="Dermotrichic syndrome"/>
      </concept>
      <concept>
        <code value="99701"/>
        <display
                 value="Mesial temporal lobe epilepsy with hippocampal sclerosis"/>
      </concept>
      <concept>
        <code value="99704"/>
        <display
                 value="Early-onset obesity-hyperphagia-severe developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="99710"/>
        <display value="Punctate acrokeratoderma freckle-like pigmentation"/>
      </concept>
      <concept>
        <code value="99718"/>
        <display value="Leber plus disease"/>
      </concept>
      <concept>
        <code value="99725"/>
        <display value="Pituitary gigantism"/>
      </concept>
      <concept>
        <code value="99731"/>
        <display value="Isolated sulfite oxidase deficiency"/>
      </concept>
      <concept>
        <code value="99732"/>
        <display
                 value="Sulfite oxidase deficiency due to molybdenum cofactor deficiency"/>
      </concept>
      <concept>
        <code value="99734"/>
        <display value="Myotonia fluctuans"/>
      </concept>
      <concept>
        <code value="99735"/>
        <display value="Myotonia permanens"/>
      </concept>
      <concept>
        <code value="99736"/>
        <display value="Acetazolamide-responsive myotonia"/>
      </concept>
      <concept>
        <code value="99741"/>
        <display value="King-Denborough syndrome"/>
      </concept>
      <concept>
        <code value="99742"/>
        <display value="Amish lethal microcephaly"/>
      </concept>
      <concept>
        <code value="99745"/>
        <display value="Typhoid"/>
      </concept>
      <concept>
        <code value="99748"/>
        <display value="Pontiac fever"/>
      </concept>
      <concept>
        <code value="99749"/>
        <display value="Kostmann syndrome"/>
      </concept>
      <concept>
        <code value="99750"/>
        <display value="Atypical progressive supranuclear palsy syndrome"/>
      </concept>
      <concept>
        <code value="99756"/>
        <display value="Alveolar rhabdomyosarcoma"/>
      </concept>
      <concept>
        <code value="99757"/>
        <display value="Embryonal rhabdomyosarcoma"/>
      </concept>
      <concept>
        <code value="99771"/>
        <display value="Bifid uvula"/>
      </concept>
      <concept>
        <code value="99772"/>
        <display value="Cleft velum"/>
      </concept>
      <concept>
        <code value="99776"/>
        <display value="Mosaic trisomy 9"/>
      </concept>
      <concept>
        <code value="99789"/>
        <display value="Dentin dysplasia type I"/>
      </concept>
      <concept>
        <code value="99791"/>
        <display value="Dentin dysplasia type II"/>
      </concept>
      <concept>
        <code value="99792"/>
        <display value="Dentin dysplasia-sclerotic bones syndrome"/>
      </concept>
      <concept>
        <code value="99796"/>
        <display value="Subcortical band heterotopia"/>
      </concept>
      <concept>
        <code value="99797"/>
        <display value="Anodontia"/>
      </concept>
      <concept>
        <code value="99798"/>
        <display value="Oligodontia"/>
      </concept>
      <concept>
        <code value="99802"/>
        <display value="Hemimegalencephaly"/>
      </concept>
      <concept>
        <code value="99803"/>
        <display value="Haddad syndrome"/>
      </concept>
      <concept>
        <code value="99806"/>
        <display value="Oculootodental syndrome"/>
      </concept>
      <concept>
        <code value="99807"/>
        <display value="PEHO-like syndrome"/>
      </concept>
      <concept>
        <code value="99810"/>
        <display value="Familial porencephaly"/>
      </concept>
      <concept>
        <code value="99811"/>
        <display value="Neuronal intestinal pseudoobstruction"/>
      </concept>
      <concept>
        <code value="99812"/>
        <display value="LIG4 syndrome"/>
      </concept>
      <concept>
        <code value="99818"/>
        <display value="Turcot syndrome with polyposis"/>
      </concept>
      <concept>
        <code value="99819"/>
        <display value="Familial gestational hyperthyroidism"/>
      </concept>
      <concept>
        <code value="99824"/>
        <display value="Lassa fever"/>
      </concept>
      <concept>
        <code value="99825"/>
        <display value="Nipah virus disease"/>
      </concept>
      <concept>
        <code value="99826"/>
        <display value="Marburg hemorrhagic fever"/>
      </concept>
      <concept>
        <code value="99827"/>
        <display value="Crimean-Congo hemorrhagic fever"/>
      </concept>
      <concept>
        <code value="99828"/>
        <display value="Dengue fever"/>
      </concept>
      <concept>
        <code value="99829"/>
        <display value="Yellow fever"/>
      </concept>
      <concept>
        <code value="99832"/>
        <display
                 value="Resistance to thyrotropin-releasing hormone syndrome"/>
      </concept>
      <concept>
        <code value="99842"/>
        <display value="Leukocyte adhesion deficiency type I"/>
      </concept>
      <concept>
        <code value="99843"/>
        <display value="Leukocyte adhesion deficiency type II"/>
      </concept>
      <concept>
        <code value="99844"/>
        <display value="Leukocyte adhesion deficiency type III"/>
      </concept>
      <concept>
        <code value="99845"/>
        <display value="Genetic recurrent myoglobinuria"/>
      </concept>
      <concept>
        <code value="99846"/>
        <display value="Autosomal dominant myoglobinuria"/>
      </concept>
      <concept>
        <code value="99849"/>
        <display
                 value="Glycogen storage disease due to muscle beta-enolase deficiency"/>
      </concept>
      <concept>
        <code value="99852"/>
        <display value="Ravine syndrome"/>
      </concept>
      <concept>
        <code value="99853"/>
        <display value="Ovarioleukodystrophy"/>
      </concept>
      <concept>
        <code value="99854"/>
        <display value="Cree leukoencephalopathy"/>
      </concept>
      <concept>
        <code value="99856"/>
        <display value="Primary syringomyelia"/>
      </concept>
      <concept>
        <code value="99857"/>
        <display value="Secondary syringomyelia"/>
      </concept>
      <concept>
        <code value="99858"/>
        <display value="Idiopathic syringomyelia"/>
      </concept>
      <concept>
        <code value="99860"/>
        <display value="Precursor B-cell acute lymphoblastic leukemia"/>
      </concept>
      <concept>
        <code value="99861"/>
        <display value="Precursor T-cell acute lymphoblastic leukemia"/>
      </concept>
      <concept>
        <code value="99865"/>
        <display value="Spermatocytic seminoma"/>
      </concept>
      <concept>
        <code value="99867"/>
        <display value="Thymoma"/>
      </concept>
      <concept>
        <code value="99868"/>
        <display value="Thymic carcinoma"/>
      </concept>
      <concept>
        <code value="99869"/>
        <display value="Thymic neuroendocrine carcinoma"/>
      </concept>
      <concept>
        <code value="99879"/>
        <display value="Familial isolated hyperparathyroidism"/>
      </concept>
      <concept>
        <code value="99880"/>
        <display value="Hyperparathyroidism-jaw tumor syndrome"/>
      </concept>
      <concept>
        <code value="99885"/>
        <display value="Isolated permanent neonatal diabetes mellitus"/>
      </concept>
      <concept>
        <code value="99886"/>
        <display value="Transient neonatal diabetes mellitus"/>
      </concept>
      <concept>
        <code value="99887"/>
        <display
                 value="Acute megakaryoblastic leukemia in children with Down syndrome"/>
      </concept>
      <concept>
        <code value="99889"/>
        <display value="Cushing syndrome due to ectopic ACTH secretion"/>
      </concept>
      <concept>
        <code value="99898"/>
        <display
                 value="Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency"/>
      </concept>
      <concept>
        <code value="99901"/>
        <display value="Acyl-CoA dehydrogenase 9 deficiency"/>
      </concept>
      <concept>
        <code value="99903"/>
        <display value="Spirillary rat-bite fever"/>
      </concept>
      <concept>
        <code value="99905"/>
        <display value="Streptobacillary rat-bite fever"/>
      </concept>
      <concept>
        <code value="99906"/>
        <display value="Farmer's lung disease"/>
      </concept>
      <concept>
        <code value="99907"/>
        <display value="House allergic alveolitis"/>
      </concept>
      <concept>
        <code value="99908"/>
        <display value="Pigeon-breeder lung disease"/>
      </concept>
      <concept>
        <code value="99912"/>
        <display value="Ovarian dysgerminoma"/>
      </concept>
      <concept>
        <code value="99914"/>
        <display value="Gynandroblastoma"/>
      </concept>
      <concept>
        <code value="99915"/>
        <display value="Malignant granulosa cell tumor of the ovary"/>
      </concept>
      <concept>
        <code value="99916"/>
        <display value="Malignant Sertoli-Leydig cell tumor of the ovary"/>
      </concept>
      <concept>
        <code value="99917"/>
        <display
                 value="Theca steroid-producing cell malignant tumor of ovary, not further specified"/>
      </concept>
      <concept>
        <code value="99918"/>
        <display value="Streptococcal toxic-shock syndrome"/>
      </concept>
      <concept>
        <code value="99919"/>
        <display value="Staphylococcal toxic-shock syndrome"/>
      </concept>
      <concept>
        <code value="99920"/>
        <display value="Acute graft versus host disease"/>
      </concept>
      <concept>
        <code value="99921"/>
        <display value="Chronic graft versus host disease"/>
      </concept>
      <concept>
        <code value="99922"/>
        <display value="Ocular cicatricial pemphigoid"/>
      </concept>
      <concept>
        <code value="99925"/>
        <display value="Invasive mole"/>
      </concept>
      <concept>
        <code value="99926"/>
        <display value="Gestational choriocarcinoma"/>
      </concept>
      <concept>
        <code value="99927"/>
        <display value="Hydatidiform mole"/>
      </concept>
      <concept>
        <code value="99928"/>
        <display value="Placental site trophoblastic tumor"/>
      </concept>
      <concept>
        <code value="99930"/>
        <display value="Secondary pulmonary hemosiderosis"/>
      </concept>
      <concept>
        <code value="99931"/>
        <display value="Idiopathic pulmonary hemosiderosis"/>
      </concept>
      <concept>
        <code value="99932"/>
        <display value="Heiner syndrome"/>
      </concept>
      <concept>
        <code value="99933"/>
        <display value="Pleuropulmonary blastoma type 1"/>
      </concept>
      <concept>
        <code value="99934"/>
        <display value="Pleuropulmonary blastoma type 2"/>
      </concept>
      <concept>
        <code value="99935"/>
        <display value="Pleuropulmonary blastoma type 3"/>
      </concept>
      <concept>
        <code value="99936"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2B"/>
      </concept>
      <concept>
        <code value="99937"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2C"/>
      </concept>
      <concept>
        <code value="99938"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2D"/>
      </concept>
      <concept>
        <code value="99939"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2E"/>
      </concept>
      <concept>
        <code value="99940"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2F"/>
      </concept>
      <concept>
        <code value="99941"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2G"/>
      </concept>
      <concept>
        <code value="99942"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2I"/>
      </concept>
      <concept>
        <code value="99943"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2J"/>
      </concept>
      <concept>
        <code value="99944"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2K"/>
      </concept>
      <concept>
        <code value="99945"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2L"/>
      </concept>
      <concept>
        <code value="99946"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2A1"/>
      </concept>
      <concept>
        <code value="99947"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2A2"/>
      </concept>
      <concept>
        <code value="99948"/>
        <display value="Charcot-Marie-Tooth disease type 4A"/>
      </concept>
      <concept>
        <code value="99949"/>
        <display value="Charcot-Marie-Tooth disease type 4C"/>
      </concept>
      <concept>
        <code value="99950"/>
        <display value="Charcot-Marie-Tooth disease type 4D"/>
      </concept>
      <concept>
        <code value="99951"/>
        <display value="Charcot-Marie-Tooth disease type 4E"/>
      </concept>
      <concept>
        <code value="99952"/>
        <display value="Charcot-Marie-Tooth disease type 4F"/>
      </concept>
      <concept>
        <code value="99953"/>
        <display value="Charcot-Marie-Tooth disease type 4G"/>
      </concept>
      <concept>
        <code value="99954"/>
        <display value="Charcot-Marie-Tooth disease type 4H"/>
      </concept>
      <concept>
        <code value="99955"/>
        <display value="Charcot-Marie-Tooth disease type 4B1"/>
      </concept>
      <concept>
        <code value="99956"/>
        <display value="Charcot-Marie-Tooth disease type 4B2"/>
      </concept>
      <concept>
        <code value="99960"/>
        <display value="Benign recurrent intrahepatic cholestasis type 1"/>
      </concept>
      <concept>
        <code value="99961"/>
        <display value="Benign recurrent intrahepatic cholestasis type 2"/>
      </concept>
      <concept>
        <code value="99965"/>
        <display value="O'Sullivan-McLeod syndrome"/>
      </concept>
      <concept>
        <code value="99966"/>
        <display value="Atypical teratoid rhabdoid tumor"/>
      </concept>
      <concept>
        <code value="99967"/>
        <display value="Myxoid/round cell liposarcoma"/>
      </concept>
      <concept>
        <code value="99969"/>
        <display value="Pleomorphic liposarcoma"/>
      </concept>
      <concept>
        <code value="99970"/>
        <display value="Dedifferentiated liposarcoma"/>
      </concept>
      <concept>
        <code value="99971"/>
        <display value="Well-differentiated liposarcoma"/>
      </concept>
      <concept>
        <code value="99976"/>
        <display value="Adenocarcinoma of the esophagus"/>
      </concept>
      <concept>
        <code value="99977"/>
        <display value="Squamous cell carcinoma of the esophagus"/>
      </concept>
      <concept>
        <code value="99978"/>
        <display value="Klatskin tumor"/>
      </concept>
      <concept>
        <code value="99981"/>
        <display value="Apnea of prematurity"/>
      </concept>
      <concept>
        <code value="99989"/>
        <display value="Intermediate DEND syndrome"/>
      </concept>
      <concept>
        <code value="99990"/>
        <display value="Brill-Zinsser disease"/>
      </concept>
      <concept>
        <code value="99991"/>
        <display value="Relapsing epidemic typhus"/>
      </concept>
      <concept>
        <code value="99994"/>
        <display value="Complex regional pain syndrome type 2"/>
      </concept>
      <concept>
        <code value="99995"/>
        <display value="Complex regional pain syndrome type 1"/>
      </concept>
      <concept>
        <code value="100000"/>
        <display value="Reticular perineurioma"/>
      </concept>
      <concept>
        <code value="100001"/>
        <display value="Sclerosing perineurioma"/>
      </concept>
      <concept>
        <code value="100002"/>
        <display value="Extraneural perineurioma"/>
      </concept>
      <concept>
        <code value="100003"/>
        <display value="Intraneural perineurioma"/>
      </concept>
      <concept>
        <code value="100006"/>
        <display value="ABeta amyloidosis, Dutch type"/>
      </concept>
      <concept>
        <code value="100008"/>
        <display value="ACys amyloidosis"/>
      </concept>
      <concept>
        <code value="100011"/>
        <display value="Lissencephaly with cerebellar hypoplasia type A"/>
      </concept>
      <concept>
        <code value="100012"/>
        <display value="Lissencephaly with cerebellar hypoplasia type B"/>
      </concept>
      <concept>
        <code value="100013"/>
        <display value="Lissencephaly with cerebellar hypoplasia type C"/>
      </concept>
      <concept>
        <code value="100014"/>
        <display value="Lissencephaly with cerebellar hypoplasia type D"/>
      </concept>
      <concept>
        <code value="100015"/>
        <display value="Lissencephaly with cerebellar hypoplasia type E"/>
      </concept>
      <concept>
        <code value="100016"/>
        <display value="Lissencephaly with cerebellar hypoplasia type F"/>
      </concept>
      <concept>
        <code value="100019"/>
        <display
                 value="Myelodysplastic neoplasm with increased blasts type 1"/>
      </concept>
      <concept>
        <code value="100020"/>
        <display
                 value="Myelodysplastic neoplasm with increased blasts type 2"/>
      </concept>
      <concept>
        <code value="100021"/>
        <display value="Primary plasmacytoma of the bone"/>
      </concept>
      <concept>
        <code value="100022"/>
        <display value="Extramedullary soft tissue plasmacytoma"/>
      </concept>
      <concept>
        <code value="100024"/>
        <display value="Mu-heavy chain disease"/>
      </concept>
      <concept>
        <code value="100025"/>
        <display value="Alpha-heavy chain disease"/>
      </concept>
      <concept>
        <code value="100026"/>
        <display value="Gamma-heavy chain disease"/>
      </concept>
      <concept>
        <code value="100031"/>
        <display value="Hypoplastic amelogenesis imperfecta"/>
      </concept>
      <concept>
        <code value="100032"/>
        <display value="Hypocalcified amelogenesis imperfecta"/>
      </concept>
      <concept>
        <code value="100033"/>
        <display value="Hypomaturation amelogenesis imperfecta"/>
      </concept>
      <concept>
        <code value="100034"/>
        <display
                 value="Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism"/>
      </concept>
      <concept>
        <code value="100035"/>
        <display value="Solitary necrotic nodule of the liver"/>
      </concept>
      <concept>
        <code value="100043"/>
        <display
                 value="Autosomal dominant intermediate Charcot-Marie-Tooth disease type A"/>
      </concept>
      <concept>
        <code value="100044"/>
        <display
                 value="Autosomal dominant intermediate Charcot-Marie-Tooth disease type B"/>
      </concept>
      <concept>
        <code value="100045"/>
        <display
                 value="Autosomal dominant intermediate Charcot-Marie-Tooth disease type C"/>
      </concept>
      <concept>
        <code value="100046"/>
        <display
                 value="Autosomal dominant intermediate Charcot-Marie-Tooth disease type D"/>
      </concept>
      <concept>
        <code value="100047"/>
        <display value="Esophageal duplication cyst"/>
      </concept>
      <concept>
        <code value="100048"/>
        <display value="Tubular duplication of the esophagus"/>
      </concept>
      <concept>
        <code value="100050"/>
        <display value="Hereditary angioedema type 1"/>
      </concept>
      <concept>
        <code value="100051"/>
        <display value="Hereditary angioedema type 2"/>
      </concept>
      <concept>
        <code value="100054"/>
        <display value="F12-related hereditary angioedema with normal C1Inh"/>
      </concept>
      <concept>
        <code value="100055"/>
        <display value="Acquired angioedema type 2"/>
      </concept>
      <concept>
        <code value="100056"/>
        <display value="Acquired angioedema type 1"/>
      </concept>
      <concept>
        <code value="100057"/>
        <display
                 value="Renin-angiotensin-aldosterone system-blocker-induced angioedema"/>
      </concept>
      <concept>
        <code value="100067"/>
        <display value="Waterhouse-Friderichsen syndrome"/>
      </concept>
      <concept>
        <code value="100069"/>
        <display value="Semantic dementia"/>
      </concept>
      <concept>
        <code value="100070"/>
        <display value="Progressive non-fluent aphasia"/>
      </concept>
      <concept>
        <code value="100071"/>
        <display value="Mosaic trisomy 3"/>
      </concept>
      <concept>
        <code value="100073"/>
        <display value="Neurogenic thoracic outlet syndrome"/>
      </concept>
      <concept>
        <code value="100075"/>
        <display value="Neuroendocrine tumor of stomach"/>
      </concept>
      <concept>
        <code value="100078"/>
        <display value="Ileal neuroendocrine tumor"/>
      </concept>
      <concept>
        <code value="100079"/>
        <display value="Neuroendocrine neoplasm of appendix"/>
      </concept>
      <concept>
        <code value="100080"/>
        <display value="Neuroendocrine tumor of the colon"/>
      </concept>
      <concept>
        <code value="100081"/>
        <display value="Neuroendocrine tumor of the rectum"/>
      </concept>
      <concept>
        <code value="100082"/>
        <display value="Neuroendocrine tumor of anal canal"/>
      </concept>
      <concept>
        <code value="100083"/>
        <display value="Laryngeal neuroendocrine tumor"/>
      </concept>
      <concept>
        <code value="100084"/>
        <display value="Middle ear neuroendocrine tumor"/>
      </concept>
      <concept>
        <code value="100085"/>
        <display value="Primary hepatic neuroendocrine carcinoma"/>
      </concept>
      <concept>
        <code value="100086"/>
        <display value="Gallbladder neuroendocrine tumor"/>
      </concept>
      <concept>
        <code value="100093"/>
        <display value="Carcinoid syndrome"/>
      </concept>
      <concept>
        <code value="100924"/>
        <display value="Porphyria due to ALA dehydratase deficiency"/>
      </concept>
      <concept>
        <code value="100973"/>
        <display value="FRAXE intellectual disability"/>
      </concept>
      <concept>
        <code value="100974"/>
        <display value="FRAXF syndrome"/>
      </concept>
      <concept>
        <code value="100976"/>
        <display value="Bathing suit ichthyosis"/>
      </concept>
      <concept>
        <code value="100978"/>
        <display
                 value="Cloverleaf skull-asphyxiating thoracic dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="100984"/>
        <display value="Autosomal dominant spastic paraplegia type 3"/>
      </concept>
      <concept>
        <code value="100985"/>
        <display value="Autosomal dominant spastic paraplegia type 4"/>
      </concept>
      <concept>
        <code value="100986"/>
        <display value="Autosomal recessive spastic paraplegia type 5A"/>
      </concept>
      <concept>
        <code value="100988"/>
        <display value="Autosomal dominant spastic paraplegia type 6"/>
      </concept>
      <concept>
        <code value="100989"/>
        <display value="Autosomal dominant spastic paraplegia type 8"/>
      </concept>
      <concept>
        <code value="100991"/>
        <display value="Autosomal dominant spastic paraplegia type 10"/>
      </concept>
      <concept>
        <code value="100993"/>
        <display value="Autosomal dominant spastic paraplegia type 12"/>
      </concept>
      <concept>
        <code value="100994"/>
        <display value="Autosomal dominant spastic paraplegia type 13"/>
      </concept>
      <concept>
        <code value="100995"/>
        <display value="Autosomal recessive spastic paraplegia type 14"/>
      </concept>
      <concept>
        <code value="100996"/>
        <display value="Autosomal recessive spastic paraplegia type 15"/>
      </concept>
      <concept>
        <code value="100997"/>
        <display value="X-linked spastic paraplegia type 16"/>
      </concept>
      <concept>
        <code value="100998"/>
        <display value="Autosomal dominant spastic paraplegia type 17"/>
      </concept>
      <concept>
        <code value="100999"/>
        <display value="Autosomal dominant spastic paraplegia type 19"/>
      </concept>
      <concept>
        <code value="101000"/>
        <display value="Autosomal recessive spastic paraplegia type 20"/>
      </concept>
      <concept>
        <code value="101001"/>
        <display value="Autosomal recessive spastic paraplegia type 21"/>
      </concept>
      <concept>
        <code value="101003"/>
        <display value="Autosomal recessive spastic paraplegia type 23"/>
      </concept>
      <concept>
        <code value="101004"/>
        <display value="Autosomal recessive spastic paraplegia type 24"/>
      </concept>
      <concept>
        <code value="101005"/>
        <display value="Autosomal recessive spastic paraplegia type 25"/>
      </concept>
      <concept>
        <code value="101006"/>
        <display value="Autosomal recessive spastic paraplegia type 26"/>
      </concept>
      <concept>
        <code value="101007"/>
        <display value="Autosomal recessive spastic paraplegia type 27"/>
      </concept>
      <concept>
        <code value="101008"/>
        <display value="Autosomal recessive spastic paraplegia type 28"/>
      </concept>
      <concept>
        <code value="101009"/>
        <display value="Autosomal dominant spastic paraplegia type 29"/>
      </concept>
      <concept>
        <code value="101010"/>
        <display value="Autosomal spastic paraplegia type 30"/>
      </concept>
      <concept>
        <code value="101011"/>
        <display value="Autosomal dominant spastic paraplegia type 31"/>
      </concept>
      <concept>
        <code value="101016"/>
        <display value="Romano-Ward syndrome"/>
      </concept>
      <concept>
        <code value="101023"/>
        <display value="Cleft hard palate"/>
      </concept>
      <concept>
        <code value="101028"/>
        <display value="Transaldolase deficiency"/>
      </concept>
      <concept>
        <code value="101029"/>
        <display value="Sub-cortical nodular heterotopia"/>
      </concept>
      <concept>
        <code value="101030"/>
        <display value="Subependymal nodular heterotopia"/>
      </concept>
      <concept>
        <code value="101039"/>
        <display
                 value="Female restricted epilepsy with intellectual disability"/>
      </concept>
      <concept>
        <code value="101041"/>
        <display value="Familial hypofibrinogenemia"/>
      </concept>
      <concept>
        <code value="101043"/>
        <display value="Congenital aortic valve dysplasia"/>
      </concept>
      <concept>
        <code value="101046"/>
        <display value="Autosomal dominant epilepsy with auditory features"/>
      </concept>
      <concept>
        <code value="101049"/>
        <display value="Familial hypocalciuric hypercalcemia type 2"/>
      </concept>
      <concept>
        <code value="101050"/>
        <display value="Familial hypocalciuric hypercalcemia type 3"/>
      </concept>
      <concept>
        <code value="101063"/>
        <display value="Situs inversus totalis"/>
      </concept>
      <concept>
        <code value="101068"/>
        <display value="Congenital stromal corneal dystrophy"/>
      </concept>
      <concept>
        <code value="101070"/>
        <display value="Bilateral frontoparietal polymicrogyria"/>
      </concept>
      <concept>
        <code value="101071"/>
        <display value="Unilateral hemispheric polymicrogyria"/>
      </concept>
      <concept>
        <code value="101075"/>
        <display value="X-linked Charcot-Marie-Tooth disease type 1"/>
      </concept>
      <concept>
        <code value="101076"/>
        <display value="X-linked Charcot-Marie-Tooth disease type 2"/>
      </concept>
      <concept>
        <code value="101077"/>
        <display value="X-linked Charcot-Marie-Tooth disease type 3"/>
      </concept>
      <concept>
        <code value="101078"/>
        <display value="X-linked Charcot-Marie-Tooth disease type 4"/>
      </concept>
      <concept>
        <code value="101081"/>
        <display value="Charcot-Marie-Tooth disease type 1A"/>
      </concept>
      <concept>
        <code value="101082"/>
        <display value="Charcot-Marie-Tooth disease type 1B"/>
      </concept>
      <concept>
        <code value="101083"/>
        <display value="Charcot-Marie-Tooth disease type 1C"/>
      </concept>
      <concept>
        <code value="101084"/>
        <display value="Charcot-Marie-Tooth disease type 1D"/>
      </concept>
      <concept>
        <code value="101085"/>
        <display value="Charcot-Marie-Tooth disease type 1F"/>
      </concept>
      <concept>
        <code value="101088"/>
        <display value="X-linked hyper-IgM syndrome"/>
      </concept>
      <concept>
        <code value="101089"/>
        <display value="Hyper-IgM syndrome type 2"/>
      </concept>
      <concept>
        <code value="101090"/>
        <display value="Hyper-IgM syndrome type 3"/>
      </concept>
      <concept>
        <code value="101091"/>
        <display value="Hyper-IgM syndrome type 4"/>
      </concept>
      <concept>
        <code value="101092"/>
        <display value="Hyper-IgM syndrome type 5"/>
      </concept>
      <concept>
        <code value="101097"/>
        <display
                 value="Autosomal recessive Charcot-Marie-Tooth disease with hoarseness"/>
      </concept>
      <concept>
        <code value="101101"/>
        <display value="Charcot-Marie-Tooth disease type 2B2"/>
      </concept>
      <concept>
        <code value="101102"/>
        <display value="Charcot-Marie-Tooth disease type 2H"/>
      </concept>
      <concept>
        <code value="101104"/>
        <display value="Marin-Amat syndrome"/>
      </concept>
      <concept>
        <code value="101108"/>
        <display value="Spinocerebellar ataxia type 23"/>
      </concept>
      <concept>
        <code value="101109"/>
        <display value="Spinocerebellar ataxia type 28"/>
      </concept>
      <concept>
        <code value="101110"/>
        <display value="Spinocerebellar ataxia type 20"/>
      </concept>
      <concept>
        <code value="101111"/>
        <display value="Spinocerebellar ataxia type 25"/>
      </concept>
      <concept>
        <code value="101112"/>
        <display value="Spinocerebellar ataxia type 26"/>
      </concept>
      <concept>
        <code value="101150"/>
        <display value="Autosomal recessive dopa-responsive dystonia"/>
      </concept>
      <concept>
        <code value="101206"/>
        <display
                 value="Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome"/>
      </concept>
      <concept>
        <code value="101330"/>
        <display value="Porphyria cutanea tarda"/>
      </concept>
      <concept>
        <code value="101334"/>
        <display value="African tick typhus"/>
      </concept>
      <concept>
        <code value="101351"/>
        <display value="Familial isolated congenital asplenia"/>
      </concept>
      <concept>
        <code value="101685"/>
        <display value="Rare non-syndromic intellectual disability"/>
      </concept>
      <concept>
        <code value="101932"/>
        <display value="Anomaly of the mitral subvalvular apparatus"/>
      </concept>
      <concept>
        <code value="102379"/>
        <display
                 value="Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent"/>
      </concept>
      <concept>
        <code value="102381"/>
        <display
                 value="Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor"/>
      </concept>
      <concept>
        <code value="102724"/>
        <display
                 value="Acute myeloid leukemia with t(8;21)(q22;q22) translocation"/>
      </concept>
      <concept>
        <code value="103907"/>
        <display value="Chronic diarrhea due to glucoamylase deficiency"/>
      </concept>
      <concept>
        <code value="103908"/>
        <display value="Congenital sodium diarrhea"/>
      </concept>
      <concept>
        <code value="103909"/>
        <display value="Trehalase deficiency"/>
      </concept>
      <concept>
        <code value="103910"/>
        <display value="Congenital enterocyte heparan sulfate deficiency"/>
      </concept>
      <concept>
        <code value="103918"/>
        <display value="Tropical pancreatitis"/>
      </concept>
      <concept>
        <code value="103920"/>
        <display value="Undetermined colitis"/>
      </concept>
      <concept>
        <code value="104075"/>
        <display value="Adenocarcinoma of the small intestine"/>
      </concept>
      <concept>
        <code value="104076"/>
        <display value="Leiomyosarcoma of small intestine"/>
      </concept>
      <concept>
        <code value="104077"/>
        <display value="Myopathic intestinal pseudoobstruction"/>
      </concept>
      <concept>
        <code value="104078"/>
        <display value="Unclassified intestinal pseudoobstruction"/>
      </concept>
      <concept>
        <code value="137577"/>
        <display value="Neonatal hypoxic and ischemic brain injury"/>
      </concept>
      <concept>
        <code value="137583"/>
        <display value="Vulvar intraepithelial neoplasia"/>
      </concept>
      <concept>
        <code value="137593"/>
        <display value="Infectious epithelial keratitis"/>
      </concept>
      <concept>
        <code value="137596"/>
        <display value="Neurotrophic keratopathy"/>
      </concept>
      <concept>
        <code value="137599"/>
        <display value="Herpes simplex virus stromal keratitis"/>
      </concept>
      <concept>
        <code value="137602"/>
        <display value="Corneal endotheliitis"/>
      </concept>
      <concept>
        <code value="137605"/>
        <display value="Legius syndrome"/>
      </concept>
      <concept>
        <code value="137608"/>
        <display
                 value="Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome"/>
      </concept>
      <concept>
        <code value="137617"/>
        <display value="Nephrogenic systemic fibrosis"/>
      </concept>
      <concept>
        <code value="137622"/>
        <display
                 value="Intractable diarrhea-choanal atresia-eye anomalies syndrome"/>
      </concept>
      <concept>
        <code value="137625"/>
        <display
                 value="Glycogen storage disease due to muscle and heart glycogen synthase deficiency"/>
      </concept>
      <concept>
        <code value="137628"/>
        <display value="Cardiac anomalies-heterotaxy syndrome"/>
      </concept>
      <concept>
        <code value="137631"/>
        <display
                 value="Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome"/>
      </concept>
      <concept>
        <code value="137634"/>
        <display value="Overgrowth-macrocephaly-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="137639"/>
        <display
                 value="Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome"/>
      </concept>
      <concept>
        <code value="137667"/>
        <display value="Capillary malformation-arteriovenous malformation"/>
      </concept>
      <concept>
        <code value="137672"/>
        <display value="Pellucid marginal degeneration"/>
      </concept>
      <concept>
        <code value="137675"/>
        <display value="Histiocytoid cardiomyopathy"/>
      </concept>
      <concept>
        <code value="137678"/>
        <display
                 value="Spondyloepiphyseal dysplasia with metatarsal shortening"/>
      </concept>
      <concept>
        <code value="137681"/>
        <display
                 value="Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"/>
      </concept>
      <concept>
        <code value="137686"/>
        <display value="Asherman syndrome"/>
      </concept>
      <concept>
        <code value="137698"/>
        <display
                 value="Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk"/>
      </concept>
      <concept>
        <code value="137754"/>
        <display value="Aminoacylase 1 deficiency"/>
      </concept>
      <concept>
        <code value="137776"/>
        <display value="Lethal congenital contracture syndrome type 2"/>
      </concept>
      <concept>
        <code value="137783"/>
        <display value="Lethal congenital contracture syndrome type 3"/>
      </concept>
      <concept>
        <code value="137810"/>
        <display value="Nodular cutaneous amyloidosis"/>
      </concept>
      <concept>
        <code value="137814"/>
        <display value="Macular amyloidosis"/>
      </concept>
      <concept>
        <code value="137817"/>
        <display value="Arachnoiditis"/>
      </concept>
      <concept>
        <code value="137820"/>
        <display value="Extrapelvic endometriosis"/>
      </concept>
      <concept>
        <code value="137831"/>
        <display
                 value="X-linked intellectual disability-cerebellar hypoplasia syndrome"/>
      </concept>
      <concept>
        <code value="137834"/>
        <display value="Frank-Ter Haar syndrome"/>
      </concept>
      <concept>
        <code value="137839"/>
        <display value="Lemierre syndrome"/>
      </concept>
      <concept>
        <code value="137867"/>
        <display value="Madras motor neuron disease"/>
      </concept>
      <concept>
        <code value="137888"/>
        <display value="Auriculocondylar syndrome"/>
      </concept>
      <concept>
        <code value="137893"/>
        <display
                 value="Male infertility due to large-headed multiflagellar polyploid spermatozoa"/>
      </concept>
      <concept>
        <code value="137898"/>
        <display
                 value="Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome"/>
      </concept>
      <concept>
        <code value="137908"/>
        <display value="Hypotonia with lactic acidemia and hyperammonemia"/>
      </concept>
      <concept>
        <code value="137914"/>
        <display value="Choanal atresia"/>
      </concept>
      <concept>
        <code value="137917"/>
        <display value="Choanal atresia, unilateral"/>
      </concept>
      <concept>
        <code value="137920"/>
        <display value="Choanal atresia, bilateral"/>
      </concept>
      <concept>
        <code value="137926"/>
        <display value="Primary laryngeal lymphangioma"/>
      </concept>
      <concept>
        <code value="137929"/>
        <display value="Neonatal brainstem dysfunction"/>
      </concept>
      <concept>
        <code value="137932"/>
        <display value="Congenital laryngeal palsy"/>
      </concept>
      <concept>
        <code value="137935"/>
        <display value="Airway infantile hemangioma"/>
      </concept>
      <concept>
        <code value="139396"/>
        <display value="X-linked cerebral adrenoleukodystrophy"/>
      </concept>
      <concept>
        <code value="139399"/>
        <display value="Adrenomyeloneuropathy"/>
      </concept>
      <concept>
        <code value="139402"/>
        <display
                 value="Drug reaction with eosinophilia and systemic symptoms"/>
      </concept>
      <concept>
        <code value="139406"/>
        <display value="Encephalopathy due to prosaposin deficiency"/>
      </concept>
      <concept>
        <code value="139411"/>
        <display value="Carney triad"/>
      </concept>
      <concept>
        <code value="139414"/>
        <display value="Congenital panfollicular nevus"/>
      </concept>
      <concept>
        <code value="139417"/>
        <display value="Acute transverse myelitis"/>
      </concept>
      <concept>
        <code value="139423"/>
        <display value="Idiopathic acute transverse myelitis"/>
      </concept>
      <concept>
        <code value="139426"/>
        <display value="Perioral myoclonia with absences"/>
      </concept>
      <concept>
        <code value="139431"/>
        <display value="Epilepsy with eyelid myoclonia"/>
      </concept>
      <concept>
        <code value="139436"/>
        <display value="Multicentric reticulohistiocytosis"/>
      </concept>
      <concept>
        <code value="139441"/>
        <display
                 value="Hypomyelination with atrophy of basal ganglia and cerebellum"/>
      </concept>
      <concept>
        <code value="139444"/>
        <display
                 value="Leukoencephalopathy with bilateral anterior temporal lobe cysts"/>
      </concept>
      <concept>
        <code value="139447"/>
        <display value="Progressive cavitating leukoencephalopathy"/>
      </concept>
      <concept>
        <code value="139450"/>
        <display
                 value="Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome"/>
      </concept>
      <concept>
        <code value="139455"/>
        <display value="Autosomal recessive bestrophinopathy"/>
      </concept>
      <concept>
        <code value="139466"/>
        <display value="SERKAL syndrome"/>
      </concept>
      <concept>
        <code value="139471"/>
        <display value="Microphthalmia with brain and digit anomalies"/>
      </concept>
      <concept>
        <code value="139474"/>
        <display value="17q11.2 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="139480"/>
        <display value="Autosomal recessive spastic paraplegia type 39"/>
      </concept>
      <concept>
        <code value="139485"/>
        <display
                 value="Autosomal recessive ataxia due to ubiquinone deficiency"/>
      </concept>
      <concept>
        <code value="139507"/>
        <display value="Dietary iron overload disease"/>
      </concept>
      <concept>
        <code value="139512"/>
        <display value="Neuropathy with hearing impairment"/>
      </concept>
      <concept>
        <code value="139515"/>
        <display value="Charcot-Marie-Tooth disease type 4J"/>
      </concept>
      <concept>
        <code value="139518"/>
        <display value="Distal hereditary motor neuropathy type 1"/>
      </concept>
      <concept>
        <code value="139525"/>
        <display value="Distal hereditary motor neuropathy type 2"/>
      </concept>
      <concept>
        <code value="139536"/>
        <display value="Distal hereditary motor neuropathy type 5"/>
      </concept>
      <concept>
        <code value="139547"/>
        <display value="Distal spinal muscular atrophy type 3"/>
      </concept>
      <concept>
        <code value="139552"/>
        <display value="Distal hereditary motor neuropathy, Jerash type"/>
      </concept>
      <concept>
        <code value="139557"/>
        <display value="X-linked distal spinal muscular atrophy type 3"/>
      </concept>
      <concept>
        <code value="139564"/>
        <display value="Hereditary sensory and autonomic neuropathy type 1B"/>
      </concept>
      <concept>
        <code value="139573"/>
        <display
                 value="Hereditary sensory and autonomic neuropathy with deafness and global delay"/>
      </concept>
      <concept>
        <code value="139578"/>
        <display
                 value="Mutilating hereditary sensory neuropathy with spastic paraplegia"/>
      </concept>
      <concept>
        <code value="139583"/>
        <display
                 value="X-linked hereditary sensory and autonomic neuropathy with deafness"/>
      </concept>
      <concept>
        <code value="139589"/>
        <display value="Distal hereditary motor neuropathy type 7"/>
      </concept>
      <concept>
        <code value="140286"/>
        <display
                 value="Secondary hypoparathyroidism due to impaired parathormon secretion"/>
      </concept>
      <concept>
        <code value="140436"/>
        <display value="Primary intraosseous venous malformation"/>
      </concept>
      <concept>
        <code value="140481"/>
        <display value="Autosomal dominant slowed nerve conduction velocity"/>
      </concept>
      <concept>
        <code value="140896"/>
        <display value="Severe acute respiratory syndrome"/>
      </concept>
      <concept>
        <code value="140905"/>
        <display
                 value="Hyperlipidemia due to hepatic triacylglycerol lipase deficiency"/>
      </concept>
      <concept>
        <code value="140908"/>
        <display value="Brachydactyly type B2"/>
      </concept>
      <concept>
        <code value="140917"/>
        <display value="Stapes ankylosis with broad thumbs and toes"/>
      </concept>
      <concept>
        <code value="140922"/>
        <display value="Titin-related limb-girdle muscular dystrophy R10"/>
      </concept>
      <concept>
        <code value="140927"/>
        <display value="Benign familial neonatal-infantile seizures"/>
      </concept>
      <concept>
        <code value="140933"/>
        <display value="Linear atrophoderma of Moulin"/>
      </concept>
      <concept>
        <code value="140936"/>
        <display value="Lelis syndrome"/>
      </concept>
      <concept>
        <code value="140941"/>
        <display
                 value="Short stature due to primary acid-labile subunit deficiency"/>
      </concept>
      <concept>
        <code value="140944"/>
        <display value="CLOVES syndrome"/>
      </concept>
      <concept>
        <code value="140949"/>
        <display value="Low-flow priapism"/>
      </concept>
      <concept>
        <code value="140952"/>
        <display
                 value="Syndactyly-telecanthus-anogenital and renal malformations syndrome"/>
      </concept>
      <concept>
        <code value="140957"/>
        <display value="Autosomal dominant macrothrombocytopenia"/>
      </concept>
      <concept>
        <code value="140963"/>
        <display value="Bilateral microtia-deafness-cleft palate syndrome"/>
      </concept>
      <concept>
        <code value="140966"/>
        <display value="Palmoplantar keratoderma, Nagashima type"/>
      </concept>
      <concept>
        <code value="140969"/>
        <display value="Saldino-Mainzer syndrome"/>
      </concept>
      <concept>
        <code value="140976"/>
        <display value="RHYNS syndrome"/>
      </concept>
      <concept>
        <code value="140989"/>
        <display value="Primary angiitis of the central nervous system"/>
      </concept>
      <concept>
        <code value="141000"/>
        <display value="Orofaciodigital syndrome type 11"/>
      </concept>
      <concept>
        <code value="141007"/>
        <display value="Orofaciodigital syndrome type 9"/>
      </concept>
      <concept>
        <code value="141013"/>
        <display value="First branchial cleft anomaly"/>
      </concept>
      <concept>
        <code value="141022"/>
        <display value="Second branchial cleft anomaly"/>
      </concept>
      <concept>
        <code value="141030"/>
        <display value="Third branchial cleft anomaly"/>
      </concept>
      <concept>
        <code value="141037"/>
        <display value="Fourth branchial cleft anomaly"/>
      </concept>
      <concept>
        <code value="141046"/>
        <display value="Cervical dermoid cyst"/>
      </concept>
      <concept>
        <code value="141051"/>
        <display value="Facial dermoid cyst"/>
      </concept>
      <concept>
        <code value="141061"/>
        <display value="Commissural lip fistula"/>
      </concept>
      <concept>
        <code value="141064"/>
        <display value="Lower lip fistula"/>
      </concept>
      <concept>
        <code value="141067"/>
        <display value="Cervicofacial fibrochondroma"/>
      </concept>
      <concept>
        <code value="141071"/>
        <display value="Digestive duplication cyst of the tongue"/>
      </concept>
      <concept>
        <code value="141074"/>
        <display value="External auditory canal aplasia/hypoplasia"/>
      </concept>
      <concept>
        <code value="141077"/>
        <display value="Epignathus"/>
      </concept>
      <concept>
        <code value="141083"/>
        <display value="Nasolacrimal duct cyst"/>
      </concept>
      <concept>
        <code value="141091"/>
        <display value="Polyrrhinia"/>
      </concept>
      <concept>
        <code value="141096"/>
        <display value="Supernumerary nostril"/>
      </concept>
      <concept>
        <code value="141099"/>
        <display value="Proboscis lateralis"/>
      </concept>
      <concept>
        <code value="141103"/>
        <display value="Nasal dermoid cyst"/>
      </concept>
      <concept>
        <code value="141107"/>
        <display value="Nasopharyngeal teratoma"/>
      </concept>
      <concept>
        <code value="141112"/>
        <display value="Nasal glial heterotopia"/>
      </concept>
      <concept>
        <code value="141115"/>
        <display value="Nasal ganglioglioma"/>
      </concept>
      <concept>
        <code value="141118"/>
        <display value="Nasal encephalocele"/>
      </concept>
      <concept>
        <code value="141121"/>
        <display value="Congenital subglottic stenosis"/>
      </concept>
      <concept>
        <code value="141124"/>
        <display value="Congenital laryngeal cyst"/>
      </concept>
      <concept>
        <code value="141127"/>
        <display value="Congenital tracheal stenosis"/>
      </concept>
      <concept>
        <code value="141132"/>
        <display value="Oculo-auriculo-vertebral spectrum"/>
      </concept>
      <concept>
        <code value="141145"/>
        <display value="Hemifacial hyperplasia"/>
      </concept>
      <concept>
        <code value="141148"/>
        <display value="Hemifacial myohyperplasia"/>
      </concept>
      <concept>
        <code value="141152"/>
        <display value="Isolated congenital hypoglossia/aglossia"/>
      </concept>
      <concept>
        <code value="141163"/>
        <display value="Glossopalatine ankylosis"/>
      </concept>
      <concept>
        <code value="141168"/>
        <display value="Frontonasal arteriovenous malformation"/>
      </concept>
      <concept>
        <code value="141171"/>
        <display value="Maxillary arteriovenous malformation"/>
      </concept>
      <concept>
        <code value="141174"/>
        <display value="Mandibular arteriovenous malformation"/>
      </concept>
      <concept>
        <code value="141179"/>
        <display value="Non-involuting congenital hemangioma"/>
      </concept>
      <concept>
        <code value="141184"/>
        <display value="Rapidly involuting congenital hemangioma"/>
      </concept>
      <concept>
        <code value="141194"/>
        <display
                 value="Cerebrofacial arteriovenous metameric syndrome type 1"/>
      </concept>
      <concept>
        <code value="141199"/>
        <display
                 value="Cerebrofacial arteriovenous metameric syndrome type 3"/>
      </concept>
      <concept>
        <code value="141209"/>
        <display value="Diffuse lymphatic malformation"/>
      </concept>
      <concept>
        <code value="141214"/>
        <display value="Isolated congenital syngnathia"/>
      </concept>
      <concept>
        <code value="141219"/>
        <display value="Nasal dorsum fistula"/>
      </concept>
      <concept>
        <code value="141239"/>
        <display value="Median cleft of the upper lip and maxilla"/>
      </concept>
      <concept>
        <code value="141242"/>
        <display value="Paramedian nasal cleft"/>
      </concept>
      <concept>
        <code value="141258"/>
        <display value="Tessier number 4 facial cleft"/>
      </concept>
      <concept>
        <code value="141261"/>
        <display value="Tessier number 5 facial cleft"/>
      </concept>
      <concept>
        <code value="141265"/>
        <display value="Tessier number 6 facial cleft"/>
      </concept>
      <concept>
        <code value="141276"/>
        <display value="Tessier number 7 facial cleft"/>
      </concept>
      <concept>
        <code value="141288"/>
        <display value="Midline cervical cleft"/>
      </concept>
      <concept>
        <code value="141291"/>
        <display value="Cleft lip and alveolus"/>
      </concept>
      <concept>
        <code value="141333"/>
        <display value="Biemond syndrome type 2"/>
      </concept>
      <concept>
        <code value="155838"/>
        <display value="Pinnae fistula or cyst"/>
      </concept>
      <concept>
        <code value="155878"/>
        <display value="Submucosal cleft palate"/>
      </concept>
      <concept>
        <code value="155884"/>
        <display value="Coloboma of superior eyelid"/>
      </concept>
      <concept>
        <code value="155889"/>
        <display value="Coloboma of inferior eyelid"/>
      </concept>
      <concept>
        <code value="156728"/>
        <display value="Spondyloepimetaphyseal dysplasia, matrilin-3 type"/>
      </concept>
      <concept>
        <code value="156731"/>
        <display value="Dyssegmental dysplasia, Rolland-Desbuquois type"/>
      </concept>
      <concept>
        <code value="157215"/>
        <display
                 value="Hereditary hypophosphatemic rickets with hypercalciuria"/>
      </concept>
      <concept>
        <code value="157713"/>
        <display value="Congenital or early infantile CACH syndrome"/>
      </concept>
      <concept>
        <code value="157716"/>
        <display value="Late infantile CACH syndrome"/>
      </concept>
      <concept>
        <code value="157719"/>
        <display value="Juvenile or adult CACH syndrome"/>
      </concept>
      <concept>
        <code value="157769"/>
        <display value="Situs ambiguus"/>
      </concept>
      <concept>
        <code value="157791"/>
        <display value="Epithelioid hemangioendothelioma"/>
      </concept>
      <concept>
        <code value="157794"/>
        <display value="Hereditary mixed polyposis syndrome"/>
      </concept>
      <concept>
        <code value="157798"/>
        <display value="Serrated polyposis syndrome"/>
      </concept>
      <concept>
        <code value="157801"/>
        <display
                 value="Mesoaxial synostotic syndactyly with phalangeal reduction"/>
      </concept>
      <concept>
        <code value="157808"/>
        <display value="Isolated pseudoarthrosis of the limbs"/>
      </concept>
      <concept>
        <code value="157820"/>
        <display value="Cold-induced sweating syndrome"/>
      </concept>
      <concept>
        <code value="157823"/>
        <display value="Klüver-Bucy syndrome"/>
      </concept>
      <concept>
        <code value="157826"/>
        <display value="Congenital epulis"/>
      </concept>
      <concept>
        <code value="157832"/>
        <display value="Craniorhiny"/>
      </concept>
      <concept>
        <code value="157835"/>
        <display value="Paroxysmal hemicrania"/>
      </concept>
      <concept>
        <code value="157846"/>
        <display value="Neuroferritinopathy"/>
      </concept>
      <concept>
        <code value="157850"/>
        <display value="Pantothenate kinase-associated neurodegeneration"/>
      </concept>
      <concept>
        <code value="157941"/>
        <display value="Huntington disease-like 1"/>
      </concept>
      <concept>
        <code value="157946"/>
        <display value="Huntington disease-like 3"/>
      </concept>
      <concept>
        <code value="157949"/>
        <display value="Combined immunodeficiency with granulomatosis"/>
      </concept>
      <concept>
        <code value="157954"/>
        <display value="ANE syndrome"/>
      </concept>
      <concept>
        <code value="157962"/>
        <display value="Oculoauricular syndrome, Schorderet type"/>
      </concept>
      <concept>
        <code value="157965"/>
        <display
                 value="SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome"/>
      </concept>
      <concept>
        <code value="157973"/>
        <display value="Congenital muscular dystrophy due to LMNA mutation"/>
      </concept>
      <concept>
        <code value="157991"/>
        <display value="Generalized eruptive histiocytosis"/>
      </concept>
      <concept>
        <code value="157997"/>
        <display value="Benign cephalic histiocytosis"/>
      </concept>
      <concept>
        <code value="158000"/>
        <display value="Juvenile xanthogranuloma"/>
      </concept>
      <concept>
        <code value="158003"/>
        <display value="Xanthoma disseminatum"/>
      </concept>
      <concept>
        <code value="158008"/>
        <display value="Papular xanthoma"/>
      </concept>
      <concept>
        <code value="158011"/>
        <display value="Necrobiotic xanthogranuloma"/>
      </concept>
      <concept>
        <code value="158014"/>
        <display value="Rosaï-Dorfman disease"/>
      </concept>
      <concept>
        <code value="158019"/>
        <display value="Indeterminate cell histiocytosis"/>
      </concept>
      <concept>
        <code value="158022"/>
        <display value="Progressive nodular histiocytosis"/>
      </concept>
      <concept>
        <code value="158025"/>
        <display value="Hereditary progressive mucinous histiocytosis"/>
      </concept>
      <concept>
        <code value="158029"/>
        <display value="Sea-blue histiocytosis"/>
      </concept>
      <concept>
        <code value="158048"/>
        <display
                 value="Hemophagocytic syndrome associated with an infection"/>
      </concept>
      <concept>
        <code value="158057"/>
        <display
                 value="Acquired hemophagocytic lymphohistiocytosis associated with malignant disease"/>
      </concept>
      <concept>
        <code value="158061"/>
        <display value="Macrophage activation syndrome"/>
      </concept>
      <concept>
        <code value="158668"/>
        <display value="Ectodermal dysplasia-skin fragility syndrome"/>
      </concept>
      <concept>
        <code value="158673"/>
        <display
                 value="Localized dystrophic epidermolysis bullosa, acral form"/>
      </concept>
      <concept>
        <code value="158676"/>
        <display
                 value="Localized dystrophic epidermolysis bullosa, nails only"/>
      </concept>
      <concept>
        <code value="158681"/>
        <display
                 value="Epidermolysis bullosa simplex with circinate migratory erythema"/>
      </concept>
      <concept>
        <code value="158684"/>
        <display value="Epidermolysis bullosa simplex with pyloric atresia"/>
      </concept>
      <concept>
        <code value="158687"/>
        <display value="Lethal acantholytic erosive disorder"/>
      </concept>
      <concept>
        <code value="158766"/>
        <display value="Typical urticaria pigmentosa"/>
      </concept>
      <concept>
        <code value="158769"/>
        <display value="Plaque-form urticaria pigmentosa"/>
      </concept>
      <concept>
        <code value="158772"/>
        <display value="Nodular urticaria pigmentosa"/>
      </concept>
      <concept>
        <code value="158775"/>
        <display value="Smoldering systemic mastocytosis"/>
      </concept>
      <concept>
        <code value="158778"/>
        <display value="Isolated bone marrow mastocytosis"/>
      </concept>
      <concept>
        <code value="160148"/>
        <display value="Cap polyposis"/>
      </concept>
      <concept>
        <code value="162516"/>
        <display
                 value="Isolated congenital nasal pyriform aperture stenosis"/>
      </concept>
      <concept>
        <code value="162526"/>
        <display value="Isolated congenital auditory ossicle malformation"/>
      </concept>
      <concept>
        <code value="163525"/>
        <display value="Subacute cutaneous lupus erythematosus"/>
      </concept>
      <concept>
        <code value="163596"/>
        <display value="Hb Bart's hydrops fetalis"/>
      </concept>
      <concept>
        <code value="163634"/>
        <display value="Maffucci syndrome"/>
      </concept>
      <concept>
        <code value="163649"/>
        <display
                 value="Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="163654"/>
        <display
                 value="Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome"/>
      </concept>
      <concept>
        <code value="163662"/>
        <display value="Spondyloepiphyseal dysplasia, Reardon type"/>
      </concept>
      <concept>
        <code value="163665"/>
        <display value="Spondyloepiphyseal dysplasia tarda, Kohn type"/>
      </concept>
      <concept>
        <code value="163668"/>
        <display value="Spondyloepiphyseal dysplasia, MacDermot type"/>
      </concept>
      <concept>
        <code value="163681"/>
        <display
                 value="CNTNAP2-related developmental and epileptic encephalopathy"/>
      </concept>
      <concept>
        <code value="163684"/>
        <display
                 value="Leukoencephalopathy-dystonia-motor neuropathy syndrome"/>
      </concept>
      <concept>
        <code value="163690"/>
        <display value="Hypotonia-cystinuria syndrome"/>
      </concept>
      <concept>
        <code value="163693"/>
        <display value="2p21 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="163696"/>
        <display value="Action myoclonus-renal failure syndrome"/>
      </concept>
      <concept>
        <code value="163699"/>
        <display value="Alveolar soft tissue sarcoma"/>
      </concept>
      <concept>
        <code value="163703"/>
        <display value="Febrile infection-related epilepsy syndrome"/>
      </concept>
      <concept>
        <code value="163708"/>
        <display value="Cryptogenic late-onset epileptic spasms"/>
      </concept>
      <concept>
        <code value="163717"/>
        <display value="Benign familial mesial temporal lobe epilepsy"/>
      </concept>
      <concept>
        <code value="163721"/>
        <display value="Rolandic epilepsy-speech dyspraxia syndrome"/>
      </concept>
      <concept>
        <code value="163727"/>
        <display
                 value="Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome"/>
      </concept>
      <concept>
        <code value="163746"/>
        <display
                 value="Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease"/>
      </concept>
      <concept>
        <code value="163921"/>
        <display value="Posttransplant acute limbic encephalitis"/>
      </concept>
      <concept>
        <code value="163927"/>
        <display value="Pustulosis palmaris et plantaris"/>
      </concept>
      <concept>
        <code value="163931"/>
        <display value="Acrodermatitis continua of Hallopeau"/>
      </concept>
      <concept>
        <code value="163934"/>
        <display value="Atopic keratoconjunctivitis"/>
      </concept>
      <concept>
        <code value="163937"/>
        <display value="X-linked intellectual disability, Najm type"/>
      </concept>
      <concept>
        <code value="163956"/>
        <display value="X-linked intellectual disability, Nascimento type"/>
      </concept>
      <concept>
        <code value="163961"/>
        <display value="X-linked cerebral-cerebellar-coloboma syndrome"/>
      </concept>
      <concept>
        <code value="163966"/>
        <display
                 value="X-linked dominant chondrodysplasia, Chassaing-Lacombe type"/>
      </concept>
      <concept>
        <code value="163971"/>
        <display value="X-linked intellectual disability, Cilliers type"/>
      </concept>
      <concept>
        <code value="163976"/>
        <display value="X-linked intellectual disability, Van Esch type"/>
      </concept>
      <concept>
        <code value="163979"/>
        <display
                 value="X-linked intellectual disability-craniofacioskeletal syndrome"/>
      </concept>
      <concept>
        <code value="163985"/>
        <display value="Hyperekplexia-epilepsy syndrome"/>
      </concept>
      <concept>
        <code value="164726"/>
        <display
                 value="Acute myeloid leukemia and myelodysplastic syndromes related to radiation"/>
      </concept>
      <concept>
        <code value="164736"/>
        <display value="Familial advanced sleep-phase syndrome"/>
      </concept>
      <concept>
        <code value="165805"/>
        <display
                 value="Familial mesial temporal lobe epilepsy with febrile seizures"/>
      </concept>
      <concept>
        <code value="165955"/>
        <display value="Wound myiasis"/>
      </concept>
      <concept>
        <code value="165958"/>
        <display value="Cavitary myiasis"/>
      </concept>
      <concept>
        <code value="165991"/>
        <display value="Exercise-induced hyperinsulinism"/>
      </concept>
      <concept>
        <code value="166002"/>
        <display
                 value="Multiple epiphyseal dysplasia due to collagen 9 anomaly"/>
      </concept>
      <concept>
        <code value="166016"/>
        <display value="Multiple epiphyseal dysplasia, Lowry type"/>
      </concept>
      <concept>
        <code value="166024"/>
        <display
                 value="Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="166029"/>
        <display
                 value="Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="166032"/>
        <display
                 value="Multiple epiphyseal dysplasia-miniepiphyses syndrome"/>
      </concept>
      <concept>
        <code value="166035"/>
        <display
                 value="Brachydactyly-short stature-retinitis pigmentosa syndrome"/>
      </concept>
      <concept>
        <code value="166038"/>
        <display value="Metaphyseal chondrodysplasia, Kaitila type"/>
      </concept>
      <concept>
        <code value="166063"/>
        <display value="Pontocerebellar hypoplasia type 4"/>
      </concept>
      <concept>
        <code value="166073"/>
        <display value="Pontocerebellar hypoplasia type 6"/>
      </concept>
      <concept>
        <code value="166078"/>
        <display value="Von Willebrand disease type 1"/>
      </concept>
      <concept>
        <code value="166081"/>
        <display value="Von Willebrand disease type 2"/>
      </concept>
      <concept>
        <code value="166084"/>
        <display value="Von Willebrand disease type 2A"/>
      </concept>
      <concept>
        <code value="166087"/>
        <display value="Von Willebrand disease type 2B"/>
      </concept>
      <concept>
        <code value="166090"/>
        <display value="Von Willebrand disease type 2M"/>
      </concept>
      <concept>
        <code value="166093"/>
        <display value="Von Willebrand disease type 2N"/>
      </concept>
      <concept>
        <code value="166096"/>
        <display value="Von Willebrand disease type 3"/>
      </concept>
      <concept>
        <code value="166100"/>
        <display
                 value="Autosomal dominant otospondylomegaepiphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="166105"/>
        <display
                 value="FASTKD2-related infantile mitochondrial encephalomyopathy"/>
      </concept>
      <concept>
        <code value="166108"/>
        <display value="Intellectual disability, Birk-Barel type"/>
      </concept>
      <concept>
        <code value="166113"/>
        <display value="Bazex syndrome"/>
      </concept>
      <concept>
        <code value="166119"/>
        <display value="Isolated osteopoikilosis"/>
      </concept>
      <concept>
        <code value="166260"/>
        <display value="Dentinogenesis imperfecta type 2"/>
      </concept>
      <concept>
        <code value="166265"/>
        <display value="Dentinogenesis imperfecta type 3"/>
      </concept>
      <concept>
        <code value="166272"/>
        <display value="Odontochondrodysplasia"/>
      </concept>
      <concept>
        <code value="166277"/>
        <display
                 value="Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia"/>
      </concept>
      <concept>
        <code value="166282"/>
        <display value="Familial sick sinus syndrome"/>
      </concept>
      <concept>
        <code value="166286"/>
        <display value="Porokeratotic eccrine ostial and dermal duct nevus"/>
      </concept>
      <concept>
        <code value="166291"/>
        <display value="Dirofilariasis"/>
      </concept>
      <concept>
        <code value="166299"/>
        <display
                 value="Benign partial epilepsy of infancy with complex partial seizures"/>
      </concept>
      <concept>
        <code value="166302"/>
        <display
                 value="Benign partial epilepsy with secondarily generalized seizures in infancy"/>
      </concept>
      <concept>
        <code value="166305"/>
        <display
                 value="Benign infantile seizures associated with mild gastroenteritis"/>
      </concept>
      <concept>
        <code value="166308"/>
        <display
                 value="Benign infantile focal epilepsy with midline spikes and waves during sleep"/>
      </concept>
      <concept>
        <code value="166409"/>
        <display value="Photosensitive epilepsy"/>
      </concept>
      <concept>
        <code value="166412"/>
        <display value="Hot water reflex epilepsy"/>
      </concept>
      <concept>
        <code value="166415"/>
        <display value="Audiogenic seizures"/>
      </concept>
      <concept>
        <code value="166418"/>
        <display value="Eating reflex epilepsy"/>
      </concept>
      <concept>
        <code value="166421"/>
        <display value="Orgasm-induced seizures"/>
      </concept>
      <concept>
        <code value="166424"/>
        <display value="Thinking seizures"/>
      </concept>
      <concept>
        <code value="166427"/>
        <display value="Startle epilepsy"/>
      </concept>
      <concept>
        <code value="166430"/>
        <display value="Micturation-induced seizures"/>
      </concept>
      <concept>
        <code value="166433"/>
        <display value="Reading seizures"/>
      </concept>
      <concept>
        <code value="167635"/>
        <display value="Scleromyxedema"/>
      </concept>
      <concept>
        <code value="168443"/>
        <display
                 value="Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome"/>
      </concept>
      <concept>
        <code value="168451"/>
        <display
                 value="Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome"/>
      </concept>
      <concept>
        <code value="168454"/>
        <display value="Spondyloepimetaphyseal dysplasia, Geneviève type"/>
      </concept>
      <concept>
        <code value="168544"/>
        <display value="Spondylometaphyseal dysplasia, Golden type"/>
      </concept>
      <concept>
        <code value="168549"/>
        <display value="Axial spondylometaphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="168552"/>
        <display
                 value="Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="168555"/>
        <display value="Spondylometaphyseal dysplasia, A4 type"/>
      </concept>
      <concept>
        <code value="168558"/>
        <display
                 value="46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency"/>
      </concept>
      <concept>
        <code value="168563"/>
        <display
                 value="46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"/>
      </concept>
      <concept>
        <code value="168566"/>
        <display
                 value="Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3"/>
      </concept>
      <concept>
        <code value="168569"/>
        <display value="H syndrome"/>
      </concept>
      <concept>
        <code value="168572"/>
        <display value="Native American myopathy"/>
      </concept>
      <concept>
        <code value="168577"/>
        <display value="Hereditary cryohydrocytosis with reduced stomatin"/>
      </concept>
      <concept>
        <code value="168583"/>
        <display
                 value="Hereditary North American Indian childhood cirrhosis"/>
      </concept>
      <concept>
        <code value="168588"/>
        <display
                 value="Hyperandrogenism due to cortisone reductase deficiency"/>
      </concept>
      <concept>
        <code value="168593"/>
        <display
                 value="Sudden infant death-dysgenesis of the testes syndrome"/>
      </concept>
      <concept>
        <code value="168598"/>
        <display value="Methionine adenosyltransferase I/III deficiency"/>
      </concept>
      <concept>
        <code value="168601"/>
        <display
                 value="Congenital enteropathy due to enteropeptidase deficiency"/>
      </concept>
      <concept>
        <code value="168606"/>
        <display
                 value="Seborrhea-like dermatitis with psoriasiform elements"/>
      </concept>
      <concept>
        <code value="168612"/>
        <display value="Congenital deficiency in alpha-fetoprotein"/>
      </concept>
      <concept>
        <code value="168615"/>
        <display value="Hereditary persistence of alpha-fetoprotein"/>
      </concept>
      <concept>
        <code value="168621"/>
        <display value="Dysplasia of head of femur, Meyer type"/>
      </concept>
      <concept>
        <code value="168624"/>
        <display value="Familial scaphocephaly syndrome, McGillivray type"/>
      </concept>
      <concept>
        <code value="168629"/>
        <display value="Autosomal thrombocytopenia with normal platelets"/>
      </concept>
      <concept>
        <code value="168632"/>
        <display value="Generalized basaloid follicular hamartoma syndrome"/>
      </concept>
      <concept>
        <code value="168782"/>
        <display value="Childhood disintegrative disorder"/>
      </concept>
      <concept>
        <code value="168796"/>
        <display value="Heart-hand syndrome, Slovenian type"/>
      </concept>
      <concept>
        <code value="168811"/>
        <display value="Malignant peritoneal mesothelioma"/>
      </concept>
      <concept>
        <code value="168816"/>
        <display value="Peritoneal inclusion cyst"/>
      </concept>
      <concept>
        <code value="168829"/>
        <display value="Primary peritoneal carcinoma"/>
      </concept>
      <concept>
        <code value="168940"/>
        <display value="Chronic eosinophilic leukemia"/>
      </concept>
      <concept>
        <code value="168947"/>
        <display
                 value="Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement"/>
      </concept>
      <concept>
        <code value="168950"/>
        <display
                 value="Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement"/>
      </concept>
      <concept>
        <code value="168953"/>
        <display
                 value="Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement"/>
      </concept>
      <concept>
        <code value="168960"/>
        <display
                 value="Refractory anemia with excess blasts in transformation"/>
      </concept>
      <concept>
        <code value="168966"/>
        <display value="Composite lymphoma"/>
      </concept>
      <concept>
        <code value="168984"/>
        <display value="CLAPO syndrome"/>
      </concept>
      <concept>
        <code value="168999"/>
        <display value="Malignant melanoma of the mucosa"/>
      </concept>
      <concept>
        <code value="169079"/>
        <display value="Cernunnos-XLF deficiency"/>
      </concept>
      <concept>
        <code value="169082"/>
        <display
                 value="Combined immunodeficiency due to CD3gamma deficiency"/>
      </concept>
      <concept>
        <code value="169085"/>
        <display
                 value="Susceptibility to respiratory infections associated with CD8alpha chain mutation"/>
      </concept>
      <concept>
        <code value="169090"/>
        <display
                 value="Combined immunodeficiency due to CRAC channel dysfunction"/>
      </concept>
      <concept>
        <code value="169095"/>
        <display
                 value="Severe combined immunodeficiency due to FOXN1 deficiency"/>
      </concept>
      <concept>
        <code value="169100"/>
        <display value="Immunodeficiency due to CD25 deficiency"/>
      </concept>
      <concept>
        <code value="169105"/>
        <display value="Good syndrome"/>
      </concept>
      <concept>
        <code value="169110"/>
        <display value="Immunoglobulin heavy chain deficiency"/>
      </concept>
      <concept>
        <code value="169139"/>
        <display value="Transient hypogammaglobulinemia of infancy"/>
      </concept>
      <concept>
        <code value="169142"/>
        <display
                 value="Recurrent infections due to specific granule deficiency"/>
      </concept>
      <concept>
        <code value="169147"/>
        <display
                 value="Immunodeficiency due to a classical component pathway complement deficiency"/>
      </concept>
      <concept>
        <code value="169150"/>
        <display
                 value="Immunodeficiency due to a late component of complement deficiency"/>
      </concept>
      <concept>
        <code value="169154"/>
        <display
                 value="T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency"/>
      </concept>
      <concept>
        <code value="169157"/>
        <display
                 value="T-B+ severe combined immunodeficiency due to CD45 deficiency"/>
      </concept>
      <concept>
        <code value="169160"/>
        <display
                 value="T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"/>
      </concept>
      <concept>
        <code value="169186"/>
        <display value="Autosomal recessive centronuclear myopathy"/>
      </concept>
      <concept>
        <code value="169189"/>
        <display value="Autosomal dominant centronuclear myopathy"/>
      </concept>
      <concept>
        <code value="169464"/>
        <display value="Primary CD59 deficiency"/>
      </concept>
      <concept>
        <code value="169467"/>
        <display
                 value="Recurrent Neisseria infections due to factor D deficiency"/>
      </concept>
      <concept>
        <code value="169793"/>
        <display value="Severe hemophilia B"/>
      </concept>
      <concept>
        <code value="169796"/>
        <display value="Moderate hemophilia B"/>
      </concept>
      <concept>
        <code value="169799"/>
        <display value="Mild hemophilia B"/>
      </concept>
      <concept>
        <code value="169802"/>
        <display value="Severe hemophilia A"/>
      </concept>
      <concept>
        <code value="169805"/>
        <display value="Moderate hemophilia A"/>
      </concept>
      <concept>
        <code value="169808"/>
        <display value="Mild hemophilia A"/>
      </concept>
      <concept>
        <code value="171220"/>
        <display value="Rectal duplication"/>
      </concept>
      <concept>
        <code value="171430"/>
        <display value="Severe congenital nemaline myopathy"/>
      </concept>
      <concept>
        <code value="171433"/>
        <display value="Intermediate nemaline myopathy"/>
      </concept>
      <concept>
        <code value="171436"/>
        <display value="Typical nemaline myopathy"/>
      </concept>
      <concept>
        <code value="171439"/>
        <display value="Childhood-onset nemaline myopathy"/>
      </concept>
      <concept>
        <code value="171442"/>
        <display value="Adult-onset nemaline myopathy"/>
      </concept>
      <concept>
        <code value="171445"/>
        <display value="Muscle filaminopathy"/>
      </concept>
      <concept>
        <code value="171607"/>
        <display value="X-linked spastic paraplegia type 34"/>
      </concept>
      <concept>
        <code value="171612"/>
        <display value="Autosomal dominant spastic paraplegia type 37"/>
      </concept>
      <concept>
        <code value="171617"/>
        <display value="Autosomal dominant spastic paraplegia type 38"/>
      </concept>
      <concept>
        <code value="171622"/>
        <display value="Autosomal recessive spastic paraplegia type 32"/>
      </concept>
      <concept>
        <code value="171629"/>
        <display value="Autosomal recessive spastic paraplegia type 35"/>
      </concept>
      <concept>
        <code value="171673"/>
        <display value="Limbal stem cell deficiency"/>
      </concept>
      <concept>
        <code value="171680"/>
        <display value="Lissencephaly due to TUBA1A mutation"/>
      </concept>
      <concept>
        <code value="171684"/>
        <display value="Idiopathic bilateral vestibulopathy"/>
      </concept>
      <concept>
        <code value="171690"/>
        <display
                 value="Metabolic myopathy due to lactate transporter defect"/>
      </concept>
      <concept>
        <code value="171695"/>
        <display value="Parkinsonian-pyramidal syndrome"/>
      </concept>
      <concept>
        <code value="171700"/>
        <display value="Diffuse panbronchiolitis"/>
      </concept>
      <concept>
        <code value="171703"/>
        <display
                 value="Microcephaly-polymicrogyria-corpus callosum agenesis syndrome"/>
      </concept>
      <concept>
        <code value="171706"/>
        <display
                 value="Short stature-delayed bone age due to thyroid hormone metabolism deficiency"/>
      </concept>
      <concept>
        <code value="171709"/>
        <display value="Male infertility due to globozoospermia"/>
      </concept>
      <concept>
        <code value="171719"/>
        <display value="Cutis laxa-Marfanoid syndrome"/>
      </concept>
      <concept>
        <code value="171723"/>
        <display value="White sponge nevus"/>
      </concept>
      <concept>
        <code value="171829"/>
        <display value="6q16 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="171839"/>
        <display
                 value="Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome"/>
      </concept>
      <concept>
        <code value="171844"/>
        <display value="Blindness-scoliosis-arachnodactyly syndrome"/>
      </concept>
      <concept>
        <code value="171848"/>
        <display
                 value="Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"/>
      </concept>
      <concept>
        <code value="171851"/>
        <display value="MEDNIK syndrome"/>
      </concept>
      <concept>
        <code value="171863"/>
        <display value="Autosomal dominant spastic paraplegia type 42"/>
      </concept>
      <concept>
        <code value="171866"/>
        <display value="Spondyloepimetaphyseal dysplasia, aggrecan type"/>
      </concept>
      <concept>
        <code value="171871"/>
        <display value="Renal pseudohypoaldosteronism type 1"/>
      </concept>
      <concept>
        <code value="171876"/>
        <display value="Generalized pseudohypoaldosteronism type 1"/>
      </concept>
      <concept>
        <code value="171881"/>
        <display value="Cap myopathy"/>
      </concept>
      <concept>
        <code value="171886"/>
        <display value="Cylindrical spirals myopathy"/>
      </concept>
      <concept>
        <code value="171889"/>
        <display
                 value="Myopathy with hexagonally cross-linked tubular arrays"/>
      </concept>
      <concept>
        <code value="171929"/>
        <display value="Trisomy 10p"/>
      </concept>
      <concept>
        <code value="177901"/>
        <display
                 value="Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1"/>
      </concept>
      <concept>
        <code value="177904"/>
        <display
                 value="Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2"/>
      </concept>
      <concept>
        <code value="177907"/>
        <display value="Prader-Willi syndrome due to translocation"/>
      </concept>
      <concept>
        <code value="177910"/>
        <display value="Prader-Willi syndrome due to imprinting mutation"/>
      </concept>
      <concept>
        <code value="177926"/>
        <display value="Bleeding disorder in hemophilia A carriers"/>
      </concept>
      <concept>
        <code value="177929"/>
        <display value="Bleeding disorder in hemophilia B carriers"/>
      </concept>
      <concept>
        <code value="178029"/>
        <display value="Arginine vasopressin deficiency"/>
      </concept>
      <concept>
        <code value="178145"/>
        <display
                 value="Moderate multiminicore disease with hand involvement"/>
      </concept>
      <concept>
        <code value="178148"/>
        <display
                 value="Antenatal multiminicore disease with arthrogryposis multiplex congenita"/>
      </concept>
      <concept>
        <code value="178303"/>
        <display value="8q22.1 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="178307"/>
        <display value="Reticulate acropigmentation of Kitamura"/>
      </concept>
      <concept>
        <code value="178311"/>
        <display value="Isolated sternocostoclavicular hyperostosis"/>
      </concept>
      <concept>
        <code value="178315"/>
        <display value="Undifferentiated embryonal sarcoma of the liver"/>
      </concept>
      <concept>
        <code value="178320"/>
        <display value="Acute lung injury"/>
      </concept>
      <concept>
        <code value="178333"/>
        <display value="Åland Islands eye disease"/>
      </concept>
      <concept>
        <code value="178338"/>
        <display value="UV-sensitive syndrome"/>
      </concept>
      <concept>
        <code value="178342"/>
        <display value="Inflammatory myofibroblastic tumor"/>
      </concept>
      <concept>
        <code value="178345"/>
        <display value="Aromatase excess syndrome"/>
      </concept>
      <concept>
        <code value="178355"/>
        <display value="Smith-McCort dysplasia"/>
      </concept>
      <concept>
        <code value="178364"/>
        <display value="Syndromic microphthalmia type 5"/>
      </concept>
      <concept>
        <code value="178377"/>
        <display
                 value="Osteosclerosis-developmental delay-craniosynostosis syndrome"/>
      </concept>
      <concept>
        <code value="178382"/>
        <display value="Congenital vertical talus"/>
      </concept>
      <concept>
        <code value="178389"/>
        <display value="Osteopetrosis-hypogammaglobulinemia syndrome"/>
      </concept>
      <concept>
        <code value="178396"/>
        <display
                 value="Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation"/>
      </concept>
      <concept>
        <code value="178400"/>
        <display value="Distal myopathy with anterior tibial onset"/>
      </concept>
      <concept>
        <code value="178461"/>
        <display value="X-linked myopathy with postural muscle atrophy"/>
      </concept>
      <concept>
        <code value="178464"/>
        <display value="Hereditary myopathy with early respiratory failure"/>
      </concept>
      <concept>
        <code value="178469"/>
        <display
                 value="Autosomal dominant non-syndromic intellectual disability"/>
      </concept>
      <concept>
        <code value="178475"/>
        <display value="Wound botulism"/>
      </concept>
      <concept>
        <code value="178478"/>
        <display value="Infant botulism"/>
      </concept>
      <concept>
        <code value="178481"/>
        <display value="Intestinal botulism"/>
      </concept>
      <concept>
        <code value="178487"/>
        <display value="Adult intestinal botulism"/>
      </concept>
      <concept>
        <code value="178506"/>
        <display value="Brain calcification, Rajab type"/>
      </concept>
      <concept>
        <code value="178509"/>
        <display value="Perry syndrome"/>
      </concept>
      <concept>
        <code value="178512"/>
        <display value="Folliculotropic mycosis fungoides"/>
      </concept>
      <concept>
        <code value="178517"/>
        <display value="Localized pagetoid reticulosis"/>
      </concept>
      <concept>
        <code value="178522"/>
        <display
                 value="Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma"/>
      </concept>
      <concept>
        <code value="178528"/>
        <display
                 value="Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma"/>
      </concept>
      <concept>
        <code value="178533"/>
        <display
                 value="Primary cutaneous gamma/delta-positive T-cell lymphoma"/>
      </concept>
      <concept>
        <code value="178536"/>
        <display value="Primary cutaneous marginal zone B-cell lymphoma"/>
      </concept>
      <concept>
        <code value="178540"/>
        <display value="Primary cutaneous follicle center lymphoma"/>
      </concept>
      <concept>
        <code value="178544"/>
        <display
                 value="Primary cutaneous diffuse large B-cell lymphoma, leg type"/>
      </concept>
      <concept>
        <code value="179490"/>
        <display value="Obesity due to congenital leptin resistance"/>
      </concept>
      <concept>
        <code value="179494"/>
        <display value="Obesity due to leptin receptor gene deficiency"/>
      </concept>
      <concept>
        <code value="180074"/>
        <display value="True unicornuate uterus"/>
      </concept>
      <concept>
        <code value="180079"/>
        <display value="Pseudounicornuate uterus"/>
      </concept>
      <concept>
        <code value="180086"/>
        <display value="Didelphys uterus"/>
      </concept>
      <concept>
        <code value="180106"/>
        <display value="Bicervical bicornuate uterus and blind hemivagina"/>
      </concept>
      <concept>
        <code value="180111"/>
        <display
                 value="Bicervical bicornuate uterus with patent cervix and vagina"/>
      </concept>
      <concept>
        <code value="180114"/>
        <display value="Unicervical bicornuate uterus"/>
      </concept>
      <concept>
        <code value="180126"/>
        <display value="Complete septate uterus"/>
      </concept>
      <concept>
        <code value="180129"/>
        <display value="Partial septate uterus"/>
      </concept>
      <concept>
        <code value="180139"/>
        <display value="Uterine hypoplasia"/>
      </concept>
      <concept>
        <code value="180142"/>
        <display value="Absence of uterine body"/>
      </concept>
      <concept>
        <code value="180145"/>
        <display value="Uterine cervical aplasia and agenesis"/>
      </concept>
      <concept>
        <code value="180154"/>
        <display value="Septate vagina"/>
      </concept>
      <concept>
        <code value="180157"/>
        <display value="Longitudinal vaginal septum"/>
      </concept>
      <concept>
        <code value="180160"/>
        <display value="Transverse vaginal septum"/>
      </concept>
      <concept>
        <code value="180176"/>
        <display value="Familial juvenile hypertrophy of the breast"/>
      </concept>
      <concept>
        <code value="180182"/>
        <display value="Supernumerary breasts"/>
      </concept>
      <concept>
        <code value="180188"/>
        <display value="Isolated congenital breast hypoplasia/aplasia"/>
      </concept>
      <concept>
        <code value="180226"/>
        <display value="Embryonal carcinoma"/>
      </concept>
      <concept>
        <code value="180229"/>
        <display value="Polyembryoma"/>
      </concept>
      <concept>
        <code value="180234"/>
        <display value="Mixed germ cell tumor"/>
      </concept>
      <concept>
        <code value="180237"/>
        <display value="Benign tumor of fallopian tubes"/>
      </concept>
      <concept>
        <code value="180242"/>
        <display value="Malignant tumor of fallopian tubes"/>
      </concept>
      <concept>
        <code value="180247"/>
        <display value="Vaginal carcinoma"/>
      </concept>
      <concept>
        <code value="180261"/>
        <display value="Phyllodes tumor of the breast"/>
      </concept>
      <concept>
        <code value="180267"/>
        <display value="Giant adenofibroma of the breast"/>
      </concept>
      <concept>
        <code value="180275"/>
        <display value="Paget disease of the nipple"/>
      </concept>
      <concept>
        <code value="182050"/>
        <display value="MYH9-related disease"/>
      </concept>
      <concept>
        <code value="182127"/>
        <display value="Extragonadal germinoma"/>
      </concept>
      <concept>
        <code value="183663"/>
        <display
                 value="Hyper-IgM syndrome with susceptibility to opportunistic infections"/>
      </concept>
      <concept>
        <code value="183666"/>
        <display
                 value="Hyper-IgM syndrome without susceptibility to opportunistic infections"/>
      </concept>
      <concept>
        <code value="183675"/>
        <display
                 value="Recurrent infections associated with rare immunoglobulin isotypes deficiency"/>
      </concept>
      <concept>
        <code value="183678"/>
        <display value="Hermansky-Pudlak syndrome due to AP-3 deficiency"/>
      </concept>
      <concept>
        <code value="183707"/>
        <display value="Infantile LAD-like disease due to RAC2 deficiency"/>
      </concept>
      <concept>
        <code value="183713"/>
        <display
                 value="Bacterial susceptibility due to TLR signaling pathway deficiency"/>
      </concept>
      <concept>
        <code value="189427"/>
        <display
                 value="Cushing syndrome due to bilateral macronodular adrenocortical disease"/>
      </concept>
      <concept>
        <code value="189466"/>
        <display
                 value="Familial isolated hypoparathyroidism due to impaired PTH secretion"/>
      </concept>
      <concept>
        <code value="199241"/>
        <display value="Pulmonary capillary hemangiomatosis"/>
      </concept>
      <concept>
        <code value="199244"/>
        <display value="Nelson syndrome"/>
      </concept>
      <concept>
        <code value="199247"/>
        <display value="Corticosteroid-binding globulin deficiency"/>
      </concept>
      <concept>
        <code value="199251"/>
        <display value="Ledderhose disease"/>
      </concept>
      <concept>
        <code value="199260"/>
        <display value="Calcifying aponeurotic fibroma"/>
      </concept>
      <concept>
        <code value="199267"/>
        <display value="Infantile digital fibromatosis"/>
      </concept>
      <concept>
        <code value="199276"/>
        <display value="Familial multiple lipomatosis"/>
      </concept>
      <concept>
        <code value="199279"/>
        <display value="Familial angiolipomatosis"/>
      </concept>
      <concept>
        <code value="199282"/>
        <display value="Harlequin syndrome"/>
      </concept>
      <concept>
        <code value="199285"/>
        <display
                 value="Hereditary hypercarotenemia and vitamin A deficiency"/>
      </concept>
      <concept>
        <code value="199293"/>
        <display value="Congenital microgastria"/>
      </concept>
      <concept>
        <code value="199296"/>
        <display value="Congenital isolated ACTH deficiency"/>
      </concept>
      <concept>
        <code value="199299"/>
        <display value="Late-onset isolated ACTH deficiency"/>
      </concept>
      <concept>
        <code value="199302"/>
        <display value="Isolated cleft lip"/>
      </concept>
      <concept>
        <code value="199306"/>
        <display value="Cleft lip/palate"/>
      </concept>
      <concept>
        <code value="199310"/>
        <display value="Tetragametic chimerism"/>
      </concept>
      <concept>
        <code value="199315"/>
        <display
                 value="Familial clubfoot with or without associated lower limb anomalies"/>
      </concept>
      <concept>
        <code value="199318"/>
        <display value="15q13.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="199323"/>
        <display value="Endophthalmitis"/>
      </concept>
      <concept>
        <code value="199326"/>
        <display
                 value="Isolated autosomal dominant hypomagnesemia, Glaudemans type"/>
      </concept>
      <concept>
        <code value="199329"/>
        <display value="Congenital myopathy, Paradas type"/>
      </concept>
      <concept>
        <code value="199332"/>
        <display value="Endocrine-cerebro-osteodysplasia syndrome"/>
      </concept>
      <concept>
        <code value="199337"/>
        <display
                 value="Pancreatic insufficiency-anemia-hyperostosis syndrome"/>
      </concept>
      <concept>
        <code value="199340"/>
        <display value="Muscular dystrophy, Selcen type"/>
      </concept>
      <concept>
        <code value="199343"/>
        <display value="EAST syndrome"/>
      </concept>
      <concept>
        <code value="199348"/>
        <display value="Thiamine-responsive encephalopathy"/>
      </concept>
      <concept>
        <code value="199351"/>
        <display value="Adult-onset dystonia-parkinsonism"/>
      </concept>
      <concept>
        <code value="199354"/>
        <display
                 value="Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy"/>
      </concept>
      <concept>
        <code value="199627"/>
        <display value="Atypical autism"/>
      </concept>
      <concept>
        <code value="199630"/>
        <display value="Isolated cerebellar vermis hypoplasia"/>
      </concept>
      <concept>
        <code value="199642"/>
        <display value="Isolated congenital microcephaly"/>
      </concept>
      <concept>
        <code value="199647"/>
        <display value="Isolated encephalocele"/>
      </concept>
      <concept>
        <code value="200418"/>
        <display value="Immunodeficiency with factor I anomaly"/>
      </concept>
      <concept>
        <code value="200421"/>
        <display value="Immunodeficiency with factor H anomaly"/>
      </concept>
      <concept>
        <code value="206436"/>
        <display value="Infantile Krabbe disease"/>
      </concept>
      <concept>
        <code value="206443"/>
        <display value="Late-infantile/juvenile Krabbe disease"/>
      </concept>
      <concept>
        <code value="206448"/>
        <display value="Adult Krabbe disease"/>
      </concept>
      <concept>
        <code value="206470"/>
        <display value="Cystadenoma of childhood"/>
      </concept>
      <concept>
        <code value="206484"/>
        <display value="Gonadoblastoma"/>
      </concept>
      <concept>
        <code value="206489"/>
        <display value="Malignant germ cell tumor of the vagina"/>
      </concept>
      <concept>
        <code value="206492"/>
        <display value="Vulvovaginal rhabdomyosarcoma"/>
      </concept>
      <concept>
        <code value="206538"/>
        <display
                 value="Malignant non-dysgerminomatous germ cell tumor of ovary"/>
      </concept>
      <concept>
        <code value="206546"/>
        <display
                 value="Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers"/>
      </concept>
      <concept>
        <code value="206549"/>
        <display
                 value="Anoctamin-5-related limb-girdle muscular dystrophy R12"/>
      </concept>
      <concept>
        <code value="206554"/>
        <display value="Fukutin-related limb-girdle muscular dystrophy R13"/>
      </concept>
      <concept>
        <code value="206559"/>
        <display value="POMT2-related limb-girdle muscular dystrophy R14"/>
      </concept>
      <concept>
        <code value="206564"/>
        <display value="POMGNT1-related limb-girdle muscular dystrophy R15"/>
      </concept>
      <concept>
        <code value="206569"/>
        <display value="Immune-mediated necrotizing myopathy"/>
      </concept>
      <concept>
        <code value="206572"/>
        <display value="Overlap myositis"/>
      </concept>
      <concept>
        <code value="206575"/>
        <display value="Rippling muscle disease with myasthenia gravis"/>
      </concept>
      <concept>
        <code value="206580"/>
        <display
                 value="Autosomal recessive lower motor neuron disease with childhood onset"/>
      </concept>
      <concept>
        <code value="206583"/>
        <display value="Adult polyglucosan body disease"/>
      </concept>
      <concept>
        <code value="206586"/>
        <display value="Neurolymphomatosis"/>
      </concept>
      <concept>
        <code value="206594"/>
        <display value="Subacute inflammatory demyelinating polyneuropathy"/>
      </concept>
      <concept>
        <code value="206599"/>
        <display
                 value="Isolated asymptomatic elevation of creatine phosphokinase"/>
      </concept>
      <concept>
        <code value="206991"/>
        <display value="Viral myositis"/>
      </concept>
      <concept>
        <code value="206994"/>
        <display value="Bacterial myositis"/>
      </concept>
      <concept>
        <code value="207000"/>
        <display value="Fungal myositis"/>
      </concept>
      <concept>
        <code value="208441"/>
        <display
                 value="Bilateral parasagittal parieto-occipital polymicrogyria"/>
      </concept>
      <concept>
        <code value="208444"/>
        <display value="Bilateral frontal polymicrogyria"/>
      </concept>
      <concept>
        <code value="208447"/>
        <display value="Bilateral generalized polymicrogyria"/>
      </concept>
      <concept>
        <code value="208513"/>
        <display value="Spinocerebellar ataxia type 29"/>
      </concept>
      <concept>
        <code value="208524"/>
        <display value="Herpetiform pemphigus"/>
      </concept>
      <concept>
        <code value="208989"/>
        <display value="Non-paraneoplastic sensory ganglionopathy"/>
      </concept>
      <concept>
        <code value="208999"/>
        <display value="Paraneoplastic sensory ganglionopathy"/>
      </concept>
      <concept>
        <code value="209004"/>
        <display
                 value="Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy"/>
      </concept>
      <concept>
        <code value="209335"/>
        <display
                 value="Autosomal dominant adult-onset proximal spinal muscular atrophy"/>
      </concept>
      <concept>
        <code value="209341"/>
        <display
                 value="DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy"/>
      </concept>
      <concept>
        <code value="209370"/>
        <display
                 value="Severe neonatal-onset encephalopathy with microcephaly"/>
      </concept>
      <concept>
        <code value="209867"/>
        <display
                 value="Autosomal dominant rhegmatogenous retinal detachment"/>
      </concept>
      <concept>
        <code value="209902"/>
        <display
                 value="Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency"/>
      </concept>
      <concept>
        <code value="209905"/>
        <display value="Brain-lung-thyroid syndrome"/>
      </concept>
      <concept>
        <code value="209908"/>
        <display value="Isolated childhood apraxia of speech"/>
      </concept>
      <concept>
        <code value="209916"/>
        <display value="Extraskeletal myxoid chondrosarcoma"/>
      </concept>
      <concept>
        <code value="209919"/>
        <display value="Idiopathic copper-associated cirrhosis"/>
      </concept>
      <concept>
        <code value="209932"/>
        <display value="Cone dystrophy with supernormal rod response"/>
      </concept>
      <concept>
        <code value="209943"/>
        <display value="IRVAN syndrome"/>
      </concept>
      <concept>
        <code value="209951"/>
        <display value="Autosomal spastic paraplegia type 18"/>
      </concept>
      <concept>
        <code value="209956"/>
        <display value="Idiopathic uveal effusion syndrome"/>
      </concept>
      <concept>
        <code value="209959"/>
        <display value="Phacoanaphylactic uveitis"/>
      </concept>
      <concept>
        <code value="209964"/>
        <display value="Solitary rectal ulcer syndrome"/>
      </concept>
      <concept>
        <code value="209967"/>
        <display value="Episodic ataxia type 6"/>
      </concept>
      <concept>
        <code value="209970"/>
        <display value="Episodic ataxia type 7"/>
      </concept>
      <concept>
        <code value="209973"/>
        <display
                 value="Benign nocturnal alternating hemiplegia of childhood"/>
      </concept>
      <concept>
        <code value="209981"/>
        <display value="IRIDA syndrome"/>
      </concept>
      <concept>
        <code value="209989"/>
        <display
                 value="Non-papillary transitional cell carcinoma of the bladder"/>
      </concept>
      <concept>
        <code value="210110"/>
        <display value="Intermediate osteopetrosis"/>
      </concept>
      <concept>
        <code value="210115"/>
        <display
                 value="Sterile multifocal osteomyelitis with periostitis and pustulosis"/>
      </concept>
      <concept>
        <code value="210122"/>
        <display value="Congenital alveolar capillary dysplasia"/>
      </concept>
      <concept>
        <code value="210128"/>
        <display value="Urocanic aciduria"/>
      </concept>
      <concept>
        <code value="210133"/>
        <display
                 value="Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome"/>
      </concept>
      <concept>
        <code value="210136"/>
        <display
                 value="Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome"/>
      </concept>
      <concept>
        <code value="210141"/>
        <display value="Inherited congenital spastic tetraplegia"/>
      </concept>
      <concept>
        <code value="210144"/>
        <display value="Lethal polymalformative syndrome, Boissel type"/>
      </concept>
      <concept>
        <code value="210159"/>
        <display value="Adult hepatocellular carcinoma"/>
      </concept>
      <concept>
        <code value="210163"/>
        <display value="Congenital lethal myopathy, Compton-North type"/>
      </concept>
      <concept>
        <code value="210272"/>
        <display value="Mal de débarquement"/>
      </concept>
      <concept>
        <code value="210548"/>
        <display
                 value="Macrocephaly-intellectual disability-autism syndrome"/>
      </concept>
      <concept>
        <code value="210571"/>
        <display value="Dystonia 16"/>
      </concept>
      <concept>
        <code value="210576"/>
        <display value="Congenital temporomandibular joint ankylosis"/>
      </concept>
      <concept>
        <code value="210584"/>
        <display value="Spindle cell hemangioma"/>
      </concept>
      <concept>
        <code value="211017"/>
        <display value="Spinocerebellar ataxia type 30"/>
      </concept>
      <concept>
        <code value="211067"/>
        <display value="Episodic ataxia type 5"/>
      </concept>
      <concept>
        <code value="213504"/>
        <display value="Adenocarcinoma of ovary"/>
      </concept>
      <concept>
        <code value="213512"/>
        <display value="Malignant mixed Müllerian tumor of the ovary"/>
      </concept>
      <concept>
        <code value="213528"/>
        <display value="Rare adenocarcinoma of the breast"/>
      </concept>
      <concept>
        <code value="213531"/>
        <display value="Metaplastic carcinoma of the breast"/>
      </concept>
      <concept>
        <code value="213557"/>
        <display value="Salivary gland type cancer of the breast"/>
      </concept>
      <concept>
        <code value="213600"/>
        <display value="Adenosarcoma of the corpus uteri"/>
      </concept>
      <concept>
        <code value="213605"/>
        <display value="Carcinofibroma of the corpus uteri"/>
      </concept>
      <concept>
        <code value="213610"/>
        <display value="Carcinosarcoma of the corpus uteri"/>
      </concept>
      <concept>
        <code value="213615"/>
        <display value="Rhabdomyosarcoma of the corpus uteri"/>
      </concept>
      <concept>
        <code value="213625"/>
        <display value="Leiomyosarcoma of the corpus uteri"/>
      </concept>
      <concept>
        <code value="213630"/>
        <display value="Primitive neuroectodermal tumor of the corpus uteri"/>
      </concept>
      <concept>
        <code value="213711"/>
        <display value="Endometrial stromal sarcoma"/>
      </concept>
      <concept>
        <code value="213716"/>
        <display value="Squamous cell carcinoma of the corpus uteri"/>
      </concept>
      <concept>
        <code value="213721"/>
        <display value="Undifferentiated carcinoma of the corpus uteri"/>
      </concept>
      <concept>
        <code value="213726"/>
        <display value="Serous carcinoma of the corpus uteri"/>
      </concept>
      <concept>
        <code value="213731"/>
        <display
                 value="High-grade neuroendocrine carcinoma of the corpus uteri"/>
      </concept>
      <concept>
        <code value="213736"/>
        <display value="Low-grade neuroendocrine tumor of the corpus uteri"/>
      </concept>
      <concept>
        <code value="213746"/>
        <display value="Transitional cell carcinoma of the corpus uteri"/>
      </concept>
      <concept>
        <code value="213751"/>
        <display value="Malignant germ cell tumor of the corpus uteri"/>
      </concept>
      <concept>
        <code value="213767"/>
        <display value="Squamous cell carcinoma of the cervix uteri"/>
      </concept>
      <concept>
        <code value="213772"/>
        <display value="Adenocarcinoma of the cervix uteri"/>
      </concept>
      <concept>
        <code value="213777"/>
        <display
                 value="High-grade neuroendocrine carcinoma of the cervix uteri"/>
      </concept>
      <concept>
        <code value="213787"/>
        <display value="Carcinosarcoma of the cervix uteri"/>
      </concept>
      <concept>
        <code value="213792"/>
        <display value="Adenosarcoma of the cervix uteri"/>
      </concept>
      <concept>
        <code value="213802"/>
        <display value="Rhabdomyosarcoma of the cervix uteri"/>
      </concept>
      <concept>
        <code value="213807"/>
        <display value="Leiomyosarcoma of the cervix uteri"/>
      </concept>
      <concept>
        <code value="213812"/>
        <display value="Primitive neuroectodermal tumor of the cervix uteri"/>
      </concept>
      <concept>
        <code value="213823"/>
        <display value="Adenoid cystic carcinoma of the cervix uteri"/>
      </concept>
      <concept>
        <code value="213828"/>
        <display value="Adenoid basal carcinoma of the cervix uteri"/>
      </concept>
      <concept>
        <code value="213833"/>
        <display value="Glassy cell carcinoma of the cervix uteri"/>
      </concept>
      <concept>
        <code value="213837"/>
        <display value="Malignant germ cell tumor of the cervix uteri"/>
      </concept>
      <concept>
        <code value="216694"/>
        <display
                 value="Congenitally corrected transposition of the great arteries"/>
      </concept>
      <concept>
        <code value="216718"/>
        <display
                 value="Isolated congenitally uncorrected transposition of the great arteries"/>
      </concept>
      <concept>
        <code value="216729"/>
        <display
                 value="Congenitally uncorrected transposition of the great arteries with cardiac malformation"/>
      </concept>
      <concept>
        <code value="216796"/>
        <display value="Osteogenesis imperfecta type 1"/>
      </concept>
      <concept>
        <code value="216804"/>
        <display value="Osteogenesis imperfecta type 2"/>
      </concept>
      <concept>
        <code value="216812"/>
        <display value="Osteogenesis imperfecta type 3"/>
      </concept>
      <concept>
        <code value="216820"/>
        <display value="Osteogenesis imperfecta type 4"/>
      </concept>
      <concept>
        <code value="216828"/>
        <display value="Osteogenesis imperfecta type 5"/>
      </concept>
      <concept>
        <code value="216866"/>
        <display
                 value="Classic pantothenate kinase-associated neurodegeneration"/>
      </concept>
      <concept>
        <code value="216873"/>
        <display
                 value="Atypical pantothenate kinase-associated neurodegeneration"/>
      </concept>
      <concept>
        <code value="216972"/>
        <display value="Niemann-Pick disease type C, severe perinatal form"/>
      </concept>
      <concept>
        <code value="216975"/>
        <display
                 value="Niemann-Pick disease type C, severe early infantile neurologic onset"/>
      </concept>
      <concept>
        <code value="216978"/>
        <display
                 value="Niemann-Pick disease type C, late infantile neurologic onset"/>
      </concept>
      <concept>
        <code value="216981"/>
        <display
                 value="Niemann-Pick disease type C, juvenile neurologic onset"/>
      </concept>
      <concept>
        <code value="216986"/>
        <display value="Niemann-Pick disease type C, adult neurologic onset"/>
      </concept>
      <concept>
        <code value="217008"/>
        <display value="Bockenheimer syndrome"/>
      </concept>
      <concept>
        <code value="217012"/>
        <display value="Spinocerebellar ataxia type 31"/>
      </concept>
      <concept>
        <code value="217017"/>
        <display value="Zechi-Ceide syndrome"/>
      </concept>
      <concept>
        <code value="217026"/>
        <display
                 value="Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type"/>
      </concept>
      <concept>
        <code value="217055"/>
        <display
                 value="Autosomal recessive intermediate Charcot-Marie-Tooth disease type A"/>
      </concept>
      <concept>
        <code value="217059"/>
        <display value="Isolated nail clubbing"/>
      </concept>
      <concept>
        <code value="217064"/>
        <display value="5-fluorouracil poisoning"/>
      </concept>
      <concept>
        <code value="217067"/>
        <display value="Pouchitis"/>
      </concept>
      <concept>
        <code value="217080"/>
        <display
                 value="Pulmonary fungal infections in patients deemed at risk"/>
      </concept>
      <concept>
        <code value="217085"/>
        <display value="Mucopolysaccharidosis type 2, severe form"/>
      </concept>
      <concept>
        <code value="217093"/>
        <display value="Mucopolysaccharidosis type 2, attenuated form"/>
      </concept>
      <concept>
        <code value="217253"/>
        <display value="NMDA receptor encephalitis"/>
      </concept>
      <concept>
        <code value="217260"/>
        <display value="Progressive multifocal leukoencephalopathy"/>
      </concept>
      <concept>
        <code value="217266"/>
        <display value="BNAR syndrome"/>
      </concept>
      <concept>
        <code value="217330"/>
        <display
                 value="REN-related autosomal dominant tubulointerstitial kidney disease"/>
      </concept>
      <concept>
        <code value="217335"/>
        <display value="RIN2 syndrome"/>
      </concept>
      <concept>
        <code value="217340"/>
        <display value="17q21.31 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="217346"/>
        <display value="19q13.11 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="217371"/>
        <display
                 value="Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins"/>
      </concept>
      <concept>
        <code value="217377"/>
        <display value="Microduplication Xp11.22p11.23 syndrome"/>
      </concept>
      <concept>
        <code value="217382"/>
        <display
                 value="Neurodegenerative syndrome due to cerebral folate transport deficiency"/>
      </concept>
      <concept>
        <code value="217385"/>
        <display value="17p13.3 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="217390"/>
        <display value="Combined immunodeficiency due to DOCK8 deficiency"/>
      </concept>
      <concept>
        <code value="217396"/>
        <display
                 value="Progressive polyneuropathy with bilateral striatal necrosis"/>
      </concept>
      <concept>
        <code value="217399"/>
        <display
                 value="Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation"/>
      </concept>
      <concept>
        <code value="217407"/>
        <display
                 value="Hereditary hypotrichosis with recurrent skin vesicles"/>
      </concept>
      <concept>
        <code value="217467"/>
        <display
                 value="Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"/>
      </concept>
      <concept>
        <code value="217557"/>
        <display value="Pulmonary interstitial glycogenosis"/>
      </concept>
      <concept>
        <code value="217560"/>
        <display value="Neuroendocrine cell hyperplasia of infancy"/>
      </concept>
      <concept>
        <code value="217563"/>
        <display
                 value="Neonatal acute respiratory distress due to SP-B deficiency"/>
      </concept>
      <concept>
        <code value="217566"/>
        <display
                 value="Chronic respiratory distress with surfactant metabolism deficiency"/>
      </concept>
      <concept>
        <code value="217622"/>
        <display value="Sensorineural deafness with dilated cardiomyopathy"/>
      </concept>
      <concept>
        <code value="217656"/>
        <display value="Inherited isolated arrhythmogenic cardiomyopathy"/>
      </concept>
      <concept>
        <code value="220295"/>
        <display value="Xeroderma pigmentosum-Cockayne syndrome complex"/>
      </concept>
      <concept>
        <code value="220386"/>
        <display value="Semilobar holoprosencephaly"/>
      </concept>
      <concept>
        <code value="220393"/>
        <display value="Diffuse cutaneous systemic sclerosis"/>
      </concept>
      <concept>
        <code value="220402"/>
        <display value="Limited cutaneous systemic sclerosis"/>
      </concept>
      <concept>
        <code value="220407"/>
        <display value="Limited systemic sclerosis"/>
      </concept>
      <concept>
        <code value="220436"/>
        <display value="Quebec platelet disorder"/>
      </concept>
      <concept>
        <code value="220443"/>
        <display
                 value="Bleeding diathesis due to thromboxane synthesis deficiency"/>
      </concept>
      <concept>
        <code value="220448"/>
        <display
                 value="Macrothrombocytopenia with mitral valve insufficiency"/>
      </concept>
      <concept>
        <code value="220460"/>
        <display value="Attenuated familial adenomatous polyposis"/>
      </concept>
      <concept>
        <code value="220465"/>
        <display value="Laron syndrome with immunodeficiency"/>
      </concept>
      <concept>
        <code value="220493"/>
        <display value="Joubert syndrome with ocular defect"/>
      </concept>
      <concept>
        <code value="220497"/>
        <display value="Joubert syndrome with renal defect"/>
      </concept>
      <concept>
        <code value="221008"/>
        <display value="Rothmund-Thomson syndrome type 1"/>
      </concept>
      <concept>
        <code value="221016"/>
        <display value="Rothmund-Thomson syndrome type 2"/>
      </concept>
      <concept>
        <code value="221039"/>
        <display value="Hereditary sclerosing poikiloderma, Weary type"/>
      </concept>
      <concept>
        <code value="221043"/>
        <display
                 value="Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome"/>
      </concept>
      <concept>
        <code value="221046"/>
        <display value="Poikiloderma with neutropenia"/>
      </concept>
      <concept>
        <code value="221054"/>
        <display value="Acrocephalopolydactyly"/>
      </concept>
      <concept>
        <code value="221061"/>
        <display value="Familial cerebral cavernous malformation"/>
      </concept>
      <concept>
        <code value="221074"/>
        <display value="Marchiafava-Bignami disease"/>
      </concept>
      <concept>
        <code value="221078"/>
        <display
                 value="Combined hyperactive dysfunction syndrome of the cranial nerves"/>
      </concept>
      <concept>
        <code value="221083"/>
        <display value="Hemifacial spasm"/>
      </concept>
      <concept>
        <code value="221091"/>
        <display value="Trigeminal neuralgia"/>
      </concept>
      <concept>
        <code value="221098"/>
        <display value="Glossopharyngeal neuralgia"/>
      </concept>
      <concept>
        <code value="221117"/>
        <display value="Gerstmann syndrome"/>
      </concept>
      <concept>
        <code value="221120"/>
        <display value="Pseudoaminopterin syndrome"/>
      </concept>
      <concept>
        <code value="221126"/>
        <display value="Fowler vasculopathy"/>
      </concept>
      <concept>
        <code value="221139"/>
        <display
                 value="Combined immunodeficiency with facio-oculo-skeletal anomalies"/>
      </concept>
      <concept>
        <code value="221142"/>
        <display value="Confetti-like macular atrophy"/>
      </concept>
      <concept>
        <code value="221145"/>
        <display
                 value="Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"/>
      </concept>
      <concept>
        <code value="225123"/>
        <display value="TFR2-related hemochromatosis"/>
      </concept>
      <concept>
        <code value="225147"/>
        <display value="Sporadic infantile bilateral striatal necrosis"/>
      </concept>
      <concept>
        <code value="225154"/>
        <display value="Familial infantile bilateral striatal necrosis"/>
      </concept>
      <concept>
        <code value="226307"/>
        <display
                 value="Hypothyroidism due to deficient transcription factors involved in pituitary development or function"/>
      </concept>
      <concept>
        <code value="226313"/>
        <display
                 value="Congenital hypothyroidism due to maternal intake of antithyroid drugs"/>
      </concept>
      <concept>
        <code value="226316"/>
        <display value="Genetic transient congenital hypothyroidism"/>
      </concept>
      <concept>
        <code value="227510"/>
        <display value="Multiple system atrophy, cerebellar type"/>
      </concept>
      <concept>
        <code value="227535"/>
        <display value="Hereditary breast cancer"/>
      </concept>
      <concept>
        <code value="227796"/>
        <display value="Fundus albipunctatus"/>
      </concept>
      <concept>
        <code value="227972"/>
        <display value="Toxic oil syndrome"/>
      </concept>
      <concept>
        <code value="227976"/>
        <display value="Autosomal recessive optic atrophy, OPA7 type"/>
      </concept>
      <concept>
        <code value="227982"/>
        <display value="Autoimmune polyendocrinopathy type 3"/>
      </concept>
      <concept>
        <code value="227990"/>
        <display value="Autoimmune polyendocrinopathy type 4"/>
      </concept>
      <concept>
        <code value="228000"/>
        <display value="Idiopathic CD4 lymphocytopenia"/>
      </concept>
      <concept>
        <code value="228003"/>
        <display
                 value="Severe combined immunodeficiency due to CORO1A deficiency"/>
      </concept>
      <concept>
        <code value="228012"/>
        <display
                 value="Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome"/>
      </concept>
      <concept>
        <code value="228113"/>
        <display value="Anal fistula"/>
      </concept>
      <concept>
        <code value="228116"/>
        <display value="Hughes-Stovin syndrome"/>
      </concept>
      <concept>
        <code value="228119"/>
        <display value="Fusariosis"/>
      </concept>
      <concept>
        <code value="228123"/>
        <display value="Coccidioidomycosis"/>
      </concept>
      <concept>
        <code value="228140"/>
        <display
                 value="Idiopathic ventricular fibrillation, non Brugada type"/>
      </concept>
      <concept>
        <code value="228157"/>
        <display value="Marburg acute multiple sclerosis"/>
      </concept>
      <concept>
        <code value="228165"/>
        <display value="Baló concentric sclerosis"/>
      </concept>
      <concept>
        <code value="228169"/>
        <display value="Autosomal dominant striatal neurodegeneration"/>
      </concept>
      <concept>
        <code value="228174"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2N"/>
      </concept>
      <concept>
        <code value="228179"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2M"/>
      </concept>
      <concept>
        <code value="228190"/>
        <display
                 value="Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome"/>
      </concept>
      <concept>
        <code value="228227"/>
        <display value="Late-onset focal dermal elastosis"/>
      </concept>
      <concept>
        <code value="228236"/>
        <display value="Linear focal elastosis"/>
      </concept>
      <concept>
        <code value="228240"/>
        <display value="Elastoderma"/>
      </concept>
      <concept>
        <code value="228243"/>
        <display value="Elastofibroma dorsi"/>
      </concept>
      <concept>
        <code value="228247"/>
        <display value="Acquired pseudoxanthoma elasticum"/>
      </concept>
      <concept>
        <code value="228254"/>
        <display value="Elastoma"/>
      </concept>
      <concept>
        <code value="228264"/>
        <display value="Papular elastorrhexis"/>
      </concept>
      <concept>
        <code value="228272"/>
        <display value="Primary anetoderma"/>
      </concept>
      <concept>
        <code value="228277"/>
        <display value="Familial anetoderma"/>
      </concept>
      <concept>
        <code value="228285"/>
        <display value="Acquired cutis laxa"/>
      </concept>
      <concept>
        <code value="228290"/>
        <display value="White fibrous papulosis of the neck"/>
      </concept>
      <concept>
        <code value="228293"/>
        <display
                 value="Pseudoxanthoma elasticum-like papillary dermal elastolysis"/>
      </concept>
      <concept>
        <code value="228299"/>
        <display value="Mid-dermal elastolysis"/>
      </concept>
      <concept>
        <code value="228302"/>
        <display
                 value="Carnitine palmitoyl transferase II deficiency, myopathic form"/>
      </concept>
      <concept>
        <code value="228305"/>
        <display
                 value="Carnitine palmitoyl transferase II deficiency, severe infantile form"/>
      </concept>
      <concept>
        <code value="228308"/>
        <display
                 value="Carnitine palmitoyl transferase II deficiency, neonatal form"/>
      </concept>
      <concept>
        <code value="228329"/>
        <display value="CLN1 disease"/>
      </concept>
      <concept>
        <code value="228337"/>
        <display value="CLN10 disease"/>
      </concept>
      <concept>
        <code value="228343"/>
        <display value="CLN4 disease"/>
      </concept>
      <concept>
        <code value="228346"/>
        <display value="CLN3 disease"/>
      </concept>
      <concept>
        <code value="228349"/>
        <display value="CLN2 disease"/>
      </concept>
      <concept>
        <code value="228354"/>
        <display value="CLN8 disease"/>
      </concept>
      <concept>
        <code value="228360"/>
        <display value="CLN5 disease"/>
      </concept>
      <concept>
        <code value="228363"/>
        <display value="CLN6 disease"/>
      </concept>
      <concept>
        <code value="228366"/>
        <display value="CLN7 disease"/>
      </concept>
      <concept>
        <code value="228371"/>
        <display value="Foodborne botulism"/>
      </concept>
      <concept>
        <code value="228374"/>
        <display value="Charcot-Marie-Tooth disease type 2B5"/>
      </concept>
      <concept>
        <code value="228379"/>
        <display value="Virus-associated trichodysplasia spinulosa"/>
      </concept>
      <concept>
        <code value="228384"/>
        <display value="5q14.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="228387"/>
        <display value="Spondylo-megaepiphyseal-metaphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="228390"/>
        <display
                 value="Frontonasal dysplasia-alopecia-genital anomalies syndrome"/>
      </concept>
      <concept>
        <code value="228396"/>
        <display
                 value="Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome"/>
      </concept>
      <concept>
        <code value="228399"/>
        <display value="8q12 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="228402"/>
        <display value="2q23.1 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="228410"/>
        <display
                 value="Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="228415"/>
        <display value="5q35 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="228423"/>
        <display value="GATA2 deficiency spectrum"/>
      </concept>
      <concept>
        <code value="228426"/>
        <display
                 value="Syndromic multisystem autoimmune disease due to Itch deficiency"/>
      </concept>
      <concept>
        <code value="229717"/>
        <display value="Isolated agammaglobulinemia"/>
      </concept>
      <concept>
        <code value="230800"/>
        <display value="Toxin-mediated infectious botulism"/>
      </concept>
      <concept>
        <code value="230839"/>
        <display value="Classical-like Ehlers-Danlos syndrome type 1"/>
      </concept>
      <concept>
        <code value="230851"/>
        <display value="Cardiac-valvular Ehlers-Danlos syndrome"/>
      </concept>
      <concept>
        <code value="230857"/>
        <display value="Ehlers-Danlos/osteogenesis imperfecta syndrome"/>
      </concept>
      <concept>
        <code value="231013"/>
        <display value="Congenital trigeminal anesthesia"/>
      </concept>
      <concept>
        <code value="231031"/>
        <display value="Erythema palmare hereditarium"/>
      </concept>
      <concept>
        <code value="231040"/>
        <display value="Familial generalized lentiginosis"/>
      </concept>
      <concept>
        <code value="231080"/>
        <display
                 value="High-grade dysplasia in patients with Barrett esophagus"/>
      </concept>
      <concept>
        <code value="231108"/>
        <display value="Rhabdoid tumor predisposition syndrome"/>
      </concept>
      <concept>
        <code value="231111"/>
        <display value="Drug-induced lupus erythematosus"/>
      </concept>
      <concept>
        <code value="231117"/>
        <display
                 value="Beckwith-Wiedemann syndrome due to imprinting defect of 11p15"/>
      </concept>
      <concept>
        <code value="231120"/>
        <display value="Beckwith-Wiedemann syndrome due to CDKN1C mutation"/>
      </concept>
      <concept>
        <code value="231127"/>
        <display
                 value="Beckwith-Wiedemann syndrome due to 11p15 microdeletion"/>
      </concept>
      <concept>
        <code value="231130"/>
        <display
                 value="Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion"/>
      </concept>
      <concept>
        <code value="231137"/>
        <display
                 value="Silver-Russell syndrome due to 7p11.2p13 microduplication"/>
      </concept>
      <concept>
        <code value="231140"/>
        <display
                 value="Silver-Russell syndrome due to an imprinting defect of 11p15"/>
      </concept>
      <concept>
        <code value="231144"/>
        <display
                 value="Silver-Russell syndrome due to 11p15 microduplication"/>
      </concept>
      <concept>
        <code value="231147"/>
        <display
                 value="Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11"/>
      </concept>
      <concept>
        <code value="231154"/>
        <display
                 value="Combined immunodeficiency due to partial RAG1 deficiency"/>
      </concept>
      <concept>
        <code value="231160"/>
        <display value="Familial cerebral saccular aneurysm"/>
      </concept>
      <concept>
        <code value="231169"/>
        <display value="Usher syndrome type 1"/>
      </concept>
      <concept>
        <code value="231178"/>
        <display value="Usher syndrome type 2"/>
      </concept>
      <concept>
        <code value="231183"/>
        <display value="Usher syndrome type 3"/>
      </concept>
      <concept>
        <code value="231214"/>
        <display value="Beta-thalassemia major"/>
      </concept>
      <concept>
        <code value="231222"/>
        <display value="Beta-thalassemia intermedia"/>
      </concept>
      <concept>
        <code value="231226"/>
        <display value="Dominant beta-thalassemia"/>
      </concept>
      <concept>
        <code value="231237"/>
        <display value="Delta-beta-thalassemia"/>
      </concept>
      <concept>
        <code value="231242"/>
        <display value="Hemoglobin C-beta-thalassemia syndrome"/>
      </concept>
      <concept>
        <code value="231249"/>
        <display value="Hemoglobin E-beta-thalassemia syndrome"/>
      </concept>
      <concept>
        <code value="231393"/>
        <display value="Beta-thalassemia-X-linked thrombocytopenia syndrome"/>
      </concept>
      <concept>
        <code value="231401"/>
        <display value="Alpha-thalassemia-myelodysplastic syndrome"/>
      </concept>
      <concept>
        <code value="231426"/>
        <display
                 value="Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome"/>
      </concept>
      <concept>
        <code value="231445"/>
        <display value="Paraparetic variant of Guillain-Barré syndrome"/>
      </concept>
      <concept>
        <code value="231450"/>
        <display value="Acute pure sensory neuropathy"/>
      </concept>
      <concept>
        <code value="231457"/>
        <display value="Acute pandysautonomia"/>
      </concept>
      <concept>
        <code value="231466"/>
        <display value="Acute sensory ataxic neuropathy"/>
      </concept>
      <concept>
        <code value="231500"/>
        <display value="Hermansky-Pudlak syndrome due to BLOC-3 deficiency"/>
      </concept>
      <concept>
        <code value="231512"/>
        <display value="Hermansky-Pudlak syndrome due to BLOC-2 deficiency"/>
      </concept>
      <concept>
        <code value="231531"/>
        <display value="Hermansky-Pudlak syndrome due to BLOC-1 deficiency"/>
      </concept>
      <concept>
        <code value="231556"/>
        <display
                 value="Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="231568"/>
        <display
                 value="Autosomal dominant generalized dystrophic epidermolysis bullosa"/>
      </concept>
      <concept>
        <code value="231573"/>
        <display value="Congenital erosive and vesicular dermatosis"/>
      </concept>
      <concept>
        <code value="231580"/>
        <display value="Primary unilateral adrenal hyperplasia"/>
      </concept>
      <concept>
        <code value="231625"/>
        <display
                 value="Adrenocortical carcinoma with pure aldosterone hypersecretion"/>
      </concept>
      <concept>
        <code value="231632"/>
        <display value="Ectopic aldosterone-producing tumor"/>
      </concept>
      <concept>
        <code value="231662"/>
        <display value="Isolated growth hormone deficiency type IA"/>
      </concept>
      <concept>
        <code value="231671"/>
        <display value="Isolated growth hormone deficiency type IB"/>
      </concept>
      <concept>
        <code value="231679"/>
        <display value="Isolated growth hormone deficiency type II"/>
      </concept>
      <concept>
        <code value="231692"/>
        <display value="Isolated growth hormone deficiency type III"/>
      </concept>
      <concept>
        <code value="231720"/>
        <display
                 value="Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome"/>
      </concept>
      <concept>
        <code value="231736"/>
        <display
                 value="Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome"/>
      </concept>
      <concept>
        <code value="231742"/>
        <display
                 value="Epibulbar lipodermoid-preauricular appendage-polythelia syndrome"/>
      </concept>
      <concept>
        <code value="238269"/>
        <display value="AApoAII amyloidosis"/>
      </concept>
      <concept>
        <code value="238305"/>
        <display value="Infundibulo-neurohypophysitis"/>
      </concept>
      <concept>
        <code value="238329"/>
        <display value="Severe X-linked mitochondrial encephalomyopathy"/>
      </concept>
      <concept>
        <code value="238446"/>
        <display value="15q11q13 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="238455"/>
        <display value="Infantile dystonia-parkinsonism"/>
      </concept>
      <concept>
        <code value="238459"/>
        <display value="SLC35A1-CDG"/>
      </concept>
      <concept>
        <code value="238468"/>
        <display value="Hypohidrotic ectodermal dysplasia"/>
      </concept>
      <concept>
        <code value="238475"/>
        <display value="Familial hypercholanemia"/>
      </concept>
      <concept>
        <code value="238505"/>
        <display value="Combined immunodeficiency due to CD27 deficiency"/>
      </concept>
      <concept>
        <code value="238523"/>
        <display value="Atypical hypotonia-cystinuria syndrome"/>
      </concept>
      <concept>
        <code value="238557"/>
        <display value="Chuvash erythrocytosis"/>
      </concept>
      <concept>
        <code value="238569"/>
        <display
                 value="Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"/>
      </concept>
      <concept>
        <code value="238578"/>
        <display
                 value="Familial clubfoot due to 17q23.1q23.2 microduplication"/>
      </concept>
      <concept>
        <code value="238583"/>
        <display
                 value="Hyperphenylalaninemia due to tetrahydrobiopterin deficiency"/>
      </concept>
      <concept>
        <code value="238593"/>
        <display value="IgG4-related mesenteritis"/>
      </concept>
      <concept>
        <code value="238606"/>
        <display value="Primary orthostatic tremor"/>
      </concept>
      <concept>
        <code value="238613"/>
        <display value="Beckwith-Wiedemann syndrome due to NSD1 mutation"/>
      </concept>
      <concept>
        <code value="238621"/>
        <display
                 value="Ileal pouch anal anastomosis related faecal incontinence"/>
      </concept>
      <concept>
        <code value="238624"/>
        <display value="Idiopathic intracranial hypertension"/>
      </concept>
      <concept>
        <code value="238637"/>
        <display value="Megacystis-megaureter syndrome"/>
      </concept>
      <concept>
        <code value="238642"/>
        <display value="Primary megaureter, adult-onset form"/>
      </concept>
      <concept>
        <code value="238646"/>
        <display value="Congenital primary megaureter, obstructed form"/>
      </concept>
      <concept>
        <code value="238650"/>
        <display value="Congenital primary megaureter, refluxing form"/>
      </concept>
      <concept>
        <code value="238654"/>
        <display
                 value="Congenital primary megaureter, nonrefluxing and unobstructed form"/>
      </concept>
      <concept>
        <code value="238666"/>
        <display value="Isolated congenital hypogonadotropic hypogonadism"/>
      </concept>
      <concept>
        <code value="238670"/>
        <display value="Isolated thyrotropin-releasing hormone deficiency"/>
      </concept>
      <concept>
        <code value="238688"/>
        <display value="Neonatal iodine exposure"/>
      </concept>
      <concept>
        <code value="238722"/>
        <display value="Familial congenital mirror movements"/>
      </concept>
      <concept>
        <code value="238744"/>
        <display value="Mammary-digital-nail syndrome"/>
      </concept>
      <concept>
        <code value="238750"/>
        <display value="4q21 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="238763"/>
        <display
                 value="Glaucoma secondary to spherophakia/ectopia lentis and megalocornea"/>
      </concept>
      <concept>
        <code value="238769"/>
        <display value="1q44 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="240071"/>
        <display value="Classic progressive supranuclear palsy syndrome"/>
      </concept>
      <concept>
        <code value="240085"/>
        <display
                 value="Progressive supranuclear palsy-predominant parkinsonism syndrome"/>
      </concept>
      <concept>
        <code value="240094"/>
        <display
                 value="Progressive supranuclear palsy-pure akinesia with gait freezing syndrome"/>
      </concept>
      <concept>
        <code value="240103"/>
        <display
                 value="Progressive supranuclear palsy-corticobasal syndrome"/>
      </concept>
      <concept>
        <code value="240112"/>
        <display
                 value="Progressive supranuclear palsy-progressive non-fluent aphasia syndrome"/>
      </concept>
      <concept>
        <code value="240760"/>
        <display value="Nijmegen breakage syndrome-like disorder"/>
      </concept>
      <concept>
        <code value="243343"/>
        <display value="Dimethylglycine dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="243367"/>
        <display value="Acute fatty liver of pregnancy"/>
      </concept>
      <concept>
        <code value="244242"/>
        <display value="HELLP syndrome"/>
      </concept>
      <concept>
        <code value="244275"/>
        <display
                 value="De novo thrombotic microangiopathy after kidney transplantation"/>
      </concept>
      <concept>
        <code value="244283"/>
        <display value="Biliary atresia with splenic malformation syndrome"/>
      </concept>
      <concept>
        <code value="244305"/>
        <display
                 value="Dominant hypophosphatemia with nephrolithiasis or osteoporosis"/>
      </concept>
      <concept>
        <code value="244310"/>
        <display value="RFT1-CDG"/>
      </concept>
      <concept>
        <code value="247165"/>
        <display value="Infantile mercury poisoning"/>
      </concept>
      <concept>
        <code value="247198"/>
        <display value="Progressive cerebello-cerebral atrophy"/>
      </concept>
      <concept>
        <code value="247203"/>
        <display value="Collecting duct carcinoma"/>
      </concept>
      <concept>
        <code value="247234"/>
        <display value="Sporadic adult-onset ataxia of unknown etiology"/>
      </concept>
      <concept>
        <code value="247245"/>
        <display value="Superficial siderosis"/>
      </concept>
      <concept>
        <code value="247257"/>
        <display value="Inhalational anthrax"/>
      </concept>
      <concept>
        <code value="247262"/>
        <display value="Hyperphosphatasia-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="247353"/>
        <display value="Generalized pustular psoriasis"/>
      </concept>
      <concept>
        <code value="247378"/>
        <display
                 value="Autosomal recessive secondary polycythemia not associated with VHL gene"/>
      </concept>
      <concept>
        <code value="247511"/>
        <display value="Autosomal dominant secondary polycythemia"/>
      </concept>
      <concept>
        <code value="247522"/>
        <display
                 value="Primary ciliary dyskinesia-retinitis pigmentosa syndrome"/>
      </concept>
      <concept>
        <code value="247525"/>
        <display value="Citrullinemia type I"/>
      </concept>
      <concept>
        <code value="247546"/>
        <display value="Acute neonatal citrullinemia type I"/>
      </concept>
      <concept>
        <code value="247573"/>
        <display value="Late-onset citrullinemia type I"/>
      </concept>
      <concept>
        <code value="247585"/>
        <display value="Citrullinemia type II"/>
      </concept>
      <concept>
        <code value="247598"/>
        <display
                 value="Neonatal intrahepatic cholestasis due to citrin deficiency"/>
      </concept>
      <concept>
        <code value="247604"/>
        <display value="Juvenile primary lateral sclerosis"/>
      </concept>
      <concept>
        <code value="247623"/>
        <display value="Perinatal lethal hypophosphatasia"/>
      </concept>
      <concept>
        <code value="247638"/>
        <display value="Prenatal benign hypophosphatasia"/>
      </concept>
      <concept>
        <code value="247651"/>
        <display value="Infantile hypophosphatasia"/>
      </concept>
      <concept>
        <code value="247667"/>
        <display value="Childhood-onset hypophosphatasia"/>
      </concept>
      <concept>
        <code value="247676"/>
        <display value="Adult hypophosphatasia"/>
      </concept>
      <concept>
        <code value="247685"/>
        <display value="Odontohypophosphatasia"/>
      </concept>
      <concept>
        <code value="247691"/>
        <display
                 value="Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"/>
      </concept>
      <concept>
        <code value="247698"/>
        <display value="Multiple endocrine neoplasia type 2A"/>
      </concept>
      <concept>
        <code value="247709"/>
        <display value="Multiple endocrine neoplasia type 2B"/>
      </concept>
      <concept>
        <code value="247718"/>
        <display value="Inflammatory myopathy with abundant macrophages"/>
      </concept>
      <concept>
        <code value="247724"/>
        <display value="Idiopathic eosinophilic myositis"/>
      </concept>
      <concept>
        <code value="247762"/>
        <display value="Lipoblastoma"/>
      </concept>
      <concept>
        <code value="247768"/>
        <display value="Müllerian aplasia and hyperandrogenism"/>
      </concept>
      <concept>
        <code value="247775"/>
        <display value="Mayer-Rokitansky-Küster-Hauser syndrome type 1"/>
      </concept>
      <concept>
        <code value="247790"/>
        <display value="FTH1-related iron overload"/>
      </concept>
      <concept>
        <code value="247794"/>
        <display
                 value="Juvenile cataract-microcornea-renal glucosuria syndrome"/>
      </concept>
      <concept>
        <code value="247798"/>
        <display
                 value="MUTYH-related attenuated familial adenomatous polyposis"/>
      </concept>
      <concept>
        <code value="247806"/>
        <display
                 value="APC-related attenuated familial adenomatous polyposis"/>
      </concept>
      <concept>
        <code value="247815"/>
        <display value="Autosomal recessive ataxia due to PEX10 deficiency"/>
      </concept>
      <concept>
        <code value="247820"/>
        <display
                 value="Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome"/>
      </concept>
      <concept>
        <code value="247827"/>
        <display
                 value="Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome"/>
      </concept>
      <concept>
        <code value="247834"/>
        <display value="Occult macular dystrophy"/>
      </concept>
      <concept>
        <code value="247868"/>
        <display
                 value="NLRP12-associated hereditary periodic fever syndrome"/>
      </concept>
      <concept>
        <code value="248111"/>
        <display value="Juvenile Huntington disease"/>
      </concept>
      <concept>
        <code value="248340"/>
        <display value="Isolated delta-storage pool disease"/>
      </concept>
      <concept>
        <code value="248408"/>
        <display value="Familial hypodysfibrinogenemia"/>
      </concept>
      <concept>
        <code value="250831"/>
        <display value="Logopenic progressive aphasia"/>
      </concept>
      <concept>
        <code value="250923"/>
        <display value="Isolated aniridia"/>
      </concept>
      <concept>
        <code value="250932"/>
        <display
                 value="Autosomal dominant optic atrophy and peripheral neuropathy"/>
      </concept>
      <concept>
        <code value="250972"/>
        <display value="Polymicrogyria with optic nerve hypoplasia"/>
      </concept>
      <concept>
        <code value="250977"/>
        <display value="AICA-ribosiduria"/>
      </concept>
      <concept>
        <code value="250984"/>
        <display value="Autosomal recessive Stickler syndrome"/>
      </concept>
      <concept>
        <code value="250989"/>
        <display value="1q21.1 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="250994"/>
        <display value="1q21.1 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="250999"/>
        <display value="1q41q42 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="251004"/>
        <display value="Paternal uniparental disomy of chromosome 1"/>
      </concept>
      <concept>
        <code value="251009"/>
        <display value="Maternal uniparental disomy of chromosome 1"/>
      </concept>
      <concept>
        <code value="251014"/>
        <display value="2q31.1 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="251019"/>
        <display value="2q32q33 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="251028"/>
        <display
                 value="SATB2-associated syndrome due to a chromosomal rearrangement"/>
      </concept>
      <concept>
        <code value="251038"/>
        <display value="3q29 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="251043"/>
        <display value="Ring chromosome 5 syndrome"/>
      </concept>
      <concept>
        <code value="251046"/>
        <display value="6p22 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="251056"/>
        <display value="6q25.2q25.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="251061"/>
        <display value="7q31 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="251066"/>
        <display value="8p11.2 deletion syndrome"/>
      </concept>
      <concept>
        <code value="251071"/>
        <display value="8p23.1 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="251076"/>
        <display value="8p23.1 duplication syndrome"/>
      </concept>
      <concept>
        <code value="251262"/>
        <display value="Familial osteochondritis dissecans"/>
      </concept>
      <concept>
        <code value="251274"/>
        <display value="Familial hyperaldosteronism type III"/>
      </concept>
      <concept>
        <code value="251279"/>
        <display
                 value="Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"/>
      </concept>
      <concept>
        <code value="251282"/>
        <display value="Autosomal dominant spastic ataxia type 1"/>
      </concept>
      <concept>
        <code value="251287"/>
        <display value="Benign concentric annular macular dystrophy"/>
      </concept>
      <concept>
        <code value="251290"/>
        <display value="Parietal foramina with clavicular hypoplasia"/>
      </concept>
      <concept>
        <code value="251295"/>
        <display value="Pigmented paravenous retinochoroidal atrophy"/>
      </concept>
      <concept>
        <code value="251304"/>
        <display
                 value="Infantile onset panniculitis with uveitis and systemic granulomatosis"/>
      </concept>
      <concept>
        <code value="251307"/>
        <display value="Idiopathic recurrent pericarditis"/>
      </concept>
      <concept>
        <code value="251325"/>
        <display value="Drug-induced vasculitis"/>
      </concept>
      <concept>
        <code value="251328"/>
        <display value="Unclassified vasculitis"/>
      </concept>
      <concept>
        <code value="251332"/>
        <display
                 value="Unexplained long-lasting fever/inflammatory syndrome"/>
      </concept>
      <concept>
        <code value="251347"/>
        <display value="Ataxia-telangiectasia-like disorder"/>
      </concept>
      <concept>
        <code value="251359"/>
        <display value="Sickle cell-beta-thalassemia disease syndrome"/>
      </concept>
      <concept>
        <code value="251365"/>
        <display value="Sickle cell-hemoglobin C disease syndrome"/>
      </concept>
      <concept>
        <code value="251370"/>
        <display value="Sickle cell-hemoglobin D disease syndrome"/>
      </concept>
      <concept>
        <code value="251375"/>
        <display value="Sickle cell-hemoglobin E disease syndrome"/>
      </concept>
      <concept>
        <code value="251380"/>
        <display
                 value="Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"/>
      </concept>
      <concept>
        <code value="251383"/>
        <display value="CK syndrome"/>
      </concept>
      <concept>
        <code value="251393"/>
        <display value="Localized junctional epidermolysis bullosa"/>
      </concept>
      <concept>
        <code value="251510"/>
        <display value="46,XY partial gonadal dysgenesis"/>
      </concept>
      <concept>
        <code value="251515"/>
        <display value="Distal arthrogryposis type 10"/>
      </concept>
      <concept>
        <code value="251523"/>
        <display value="Hyperzincemia and hypercalprotectinemia"/>
      </concept>
      <concept>
        <code value="251576"/>
        <display value="Gliosarcoma"/>
      </concept>
      <concept>
        <code value="251579"/>
        <display value="Giant cell glioblastoma"/>
      </concept>
      <concept>
        <code value="251582"/>
        <display value="Gliomatosis cerebri"/>
      </concept>
      <concept>
        <code value="251589"/>
        <display value="Anaplastic astrocytoma"/>
      </concept>
      <concept>
        <code value="251595"/>
        <display value="Diffuse astrocytoma"/>
      </concept>
      <concept>
        <code value="251598"/>
        <display value="Protoplasmic astrocytoma"/>
      </concept>
      <concept>
        <code value="251601"/>
        <display value="Fibrillary astrocytoma"/>
      </concept>
      <concept>
        <code value="251604"/>
        <display value="Gemistocytic astrocytoma"/>
      </concept>
      <concept>
        <code value="251607"/>
        <display value="Pleomorphic xanthoastrocytoma"/>
      </concept>
      <concept>
        <code value="251612"/>
        <display value="Pilocytic astrocytoma"/>
      </concept>
      <concept>
        <code value="251615"/>
        <display value="Pilomyxoid astrocytoma"/>
      </concept>
      <concept>
        <code value="251618"/>
        <display value="Subependymal giant cell astrocytoma"/>
      </concept>
      <concept>
        <code value="251623"/>
        <display value="Pituicytoma"/>
      </concept>
      <concept>
        <code value="251627"/>
        <display value="Oligodendroglioma"/>
      </concept>
      <concept>
        <code value="251630"/>
        <display value="Anaplastic oligodendroglioma"/>
      </concept>
      <concept>
        <code value="251636"/>
        <display value="Ependymoma"/>
      </concept>
      <concept>
        <code value="251639"/>
        <display value="Subependymoma"/>
      </concept>
      <concept>
        <code value="251643"/>
        <display value="Myxopapillary ependymoma"/>
      </concept>
      <concept>
        <code value="251646"/>
        <display value="Anaplastic ependymoma"/>
      </concept>
      <concept>
        <code value="251656"/>
        <display value="Oligoastrocytoma"/>
      </concept>
      <concept>
        <code value="251663"/>
        <display value="Anaplastic oligoastrocytoma"/>
      </concept>
      <concept>
        <code value="251671"/>
        <display value="Angiocentric glioma"/>
      </concept>
      <concept>
        <code value="251674"/>
        <display value="Chordoid glioma"/>
      </concept>
      <concept>
        <code value="251679"/>
        <display value="Astroblastoma"/>
      </concept>
      <concept>
        <code value="251855"/>
        <display value="Anaplastic/large cell medulloblastoma"/>
      </concept>
      <concept>
        <code value="251858"/>
        <display value="Medulloblastoma with extensive nodularity"/>
      </concept>
      <concept>
        <code value="251863"/>
        <display value="Desmoplastic/nodular medulloblastoma"/>
      </concept>
      <concept>
        <code value="251867"/>
        <display value="Classic medulloblastoma"/>
      </concept>
      <concept>
        <code value="251877"/>
        <display value="Ganglioneuroblastoma"/>
      </concept>
      <concept>
        <code value="251899"/>
        <display value="Choroid plexus carcinoma"/>
      </concept>
      <concept>
        <code value="251902"/>
        <display value="Atypical papilloma of choroid plexus"/>
      </concept>
      <concept>
        <code value="251909"/>
        <display value="Pineoblastoma"/>
      </concept>
      <concept>
        <code value="251912"/>
        <display value="Pineocytoma"/>
      </concept>
      <concept>
        <code value="251915"/>
        <display value="Papillary tumor of the pineal region"/>
      </concept>
      <concept>
        <code value="251919"/>
        <display
                 value="Pineal parenchymal tumor of intermediate differentiation"/>
      </concept>
      <concept>
        <code value="251927"/>
        <display value="Extraventricular neurocytoma"/>
      </concept>
      <concept>
        <code value="251931"/>
        <display value="Cerebellar liponeurocytoma"/>
      </concept>
      <concept>
        <code value="251937"/>
        <display value="Gangliocytoma"/>
      </concept>
      <concept>
        <code value="251940"/>
        <display value="Desmoplastic infantile astrocytoma/ganglioglioma"/>
      </concept>
      <concept>
        <code value="251946"/>
        <display value="Dysembryoplastic neuroepithelial tumor"/>
      </concept>
      <concept>
        <code value="251949"/>
        <display value="Ganglioglioma"/>
      </concept>
      <concept>
        <code value="251957"/>
        <display value="Anaplastic ganglioglioma"/>
      </concept>
      <concept>
        <code value="251962"/>
        <display value="Papillary glioneuronal tumor"/>
      </concept>
      <concept>
        <code value="251975"/>
        <display value="Rosette-forming glioneuronal tumor"/>
      </concept>
      <concept>
        <code value="251992"/>
        <display value="Ganglioneuroma"/>
      </concept>
      <concept>
        <code value="252006"/>
        <display value="Yolk sac tumor of central nervous system"/>
      </concept>
      <concept>
        <code value="252015"/>
        <display value="Choriocarcinoma of the central nervous system"/>
      </concept>
      <concept>
        <code value="252018"/>
        <display value="Teratoma of the central nervous system"/>
      </concept>
      <concept>
        <code value="252021"/>
        <display value="Mixed germ cell tumor of central nervous system"/>
      </concept>
      <concept>
        <code value="252031"/>
        <display value="Diffuse leptomeningeal melanocytosis"/>
      </concept>
      <concept>
        <code value="252046"/>
        <display value="Meningeal melanocytoma"/>
      </concept>
      <concept>
        <code value="252050"/>
        <display value="Primary melanoma of the central nervous system"/>
      </concept>
      <concept>
        <code value="252054"/>
        <display value="Hemangioblastoma"/>
      </concept>
      <concept>
        <code value="252128"/>
        <display
                 value="Malignant peripheral nerve sheath tumor with perineurial differentiation"/>
      </concept>
      <concept>
        <code value="252164"/>
        <display value="Benign schwannoma"/>
      </concept>
      <concept>
        <code value="252175"/>
        <display value="Vestibular schwannoma"/>
      </concept>
      <concept>
        <code value="252183"/>
        <display value="Neurofibroma"/>
      </concept>
      <concept>
        <code value="252202"/>
        <display value="Constitutional mismatch repair deficiency syndrome"/>
      </concept>
      <concept>
        <code value="252206"/>
        <display value="Melanoma and neural system tumor syndrome"/>
      </concept>
      <concept>
        <code value="252212"/>
        <display value="Malignant triton tumor"/>
      </concept>
      <concept>
        <code value="254334"/>
        <display
                 value="Autosomal recessive intermediate Charcot-Marie-Tooth disease type B"/>
      </concept>
      <concept>
        <code value="254343"/>
        <display
                 value="Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome"/>
      </concept>
      <concept>
        <code value="254346"/>
        <display value="19p13.12 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="254351"/>
        <display value="Distal 7q11.23 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="254361"/>
        <display value="Plectin-related limb-girdle muscular dystrophy R17"/>
      </concept>
      <concept>
        <code value="254379"/>
        <display value="Linear lichen planus"/>
      </concept>
      <concept>
        <code value="254395"/>
        <display value="Actinic lichen planus"/>
      </concept>
      <concept>
        <code value="254411"/>
        <display value="Annular atrophic lichen planus"/>
      </concept>
      <concept>
        <code value="254424"/>
        <display value="Annular lichen planus"/>
      </concept>
      <concept>
        <code value="254449"/>
        <display value="Atrophic lichen planus"/>
      </concept>
      <concept>
        <code value="254463"/>
        <display value="Lichen planus pigmentosus"/>
      </concept>
      <concept>
        <code value="254478"/>
        <display value="Lichen planus pemphigoides"/>
      </concept>
      <concept>
        <code value="254492"/>
        <display value="Frontal fibrosing alopecia"/>
      </concept>
      <concept>
        <code value="254504"/>
        <display value="Inhalational botulism"/>
      </concept>
      <concept>
        <code value="254509"/>
        <display value="Iatrogenic botulism"/>
      </concept>
      <concept>
        <code value="254516"/>
        <display value="Temple syndrome"/>
      </concept>
      <concept>
        <code value="254519"/>
        <display value="Kagami-Ogata syndrome"/>
      </concept>
      <concept>
        <code value="254525"/>
        <display
                 value="Temple syndrome due to paternal 14q32.2 microdeletion"/>
      </concept>
      <concept>
        <code value="254528"/>
        <display
                 value="Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion"/>
      </concept>
      <concept>
        <code value="254531"/>
        <display
                 value="Temple syndrome due to paternal 14q32.2 hypomethylation"/>
      </concept>
      <concept>
        <code value="254534"/>
        <display
                 value="Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation"/>
      </concept>
      <concept>
        <code value="254688"/>
        <display value="Complete hydatidiform mole"/>
      </concept>
      <concept>
        <code value="254693"/>
        <display value="Partial hydatidiform mole"/>
      </concept>
      <concept>
        <code value="254698"/>
        <display value="Epithelioid trophoblastic tumor"/>
      </concept>
      <concept>
        <code value="254704"/>
        <display value="Genetic hyperferritinemia without iron overload"/>
      </concept>
      <concept>
        <code value="254851"/>
        <display value="Mitochondrial DNA-related dystonia"/>
      </concept>
      <concept>
        <code value="254854"/>
        <display value="Pure mitochondrial myopathy"/>
      </concept>
      <concept>
        <code value="254857"/>
        <display value="Lethal infantile mitochondrial myopathy"/>
      </concept>
      <concept>
        <code value="254864"/>
        <display
                 value="Mitochondrial myopathy with reversible cytochrome C oxidase deficiency"/>
      </concept>
      <concept>
        <code value="254875"/>
        <display
                 value="Mitochondrial DNA depletion syndrome, myopathic form"/>
      </concept>
      <concept>
        <code value="254881"/>
        <display value="Spinocerebellar ataxia with epilepsy"/>
      </concept>
      <concept>
        <code value="254886"/>
        <display
                 value="Autosomal recessive progressive external ophthalmoplegia"/>
      </concept>
      <concept>
        <code value="254892"/>
        <display
                 value="Autosomal dominant progressive external ophthalmoplegia"/>
      </concept>
      <concept>
        <code value="254898"/>
        <display
                 value="Deafness-encephaloneuropathy-obesity-valvulopathy syndrome"/>
      </concept>
      <concept>
        <code value="254902"/>
        <display
                 value="Renal tubulopathy-encephalopathy-liver failure syndrome"/>
      </concept>
      <concept>
        <code value="254905"/>
        <display value="Isolated cytochrome C oxidase deficiency"/>
      </concept>
      <concept>
        <code value="254913"/>
        <display value="Isolated ATP synthase deficiency"/>
      </concept>
      <concept>
        <code value="254920"/>
        <display value="Combined oxidative phosphorylation defect type 2"/>
      </concept>
      <concept>
        <code value="254925"/>
        <display value="Combined oxidative phosphorylation defect type 4"/>
      </concept>
      <concept>
        <code value="254930"/>
        <display value="Combined oxidative phosphorylation defect type 7"/>
      </concept>
      <concept>
        <code value="255132"/>
        <display
                 value="Adult-onset autosomal recessive sideroblastic anemia"/>
      </concept>
      <concept>
        <code value="255138"/>
        <display value="Pyruvate dehydrogenase E1-beta deficiency"/>
      </concept>
      <concept>
        <code value="255182"/>
        <display
                 value="Pyruvate dehydrogenase E3-binding protein deficiency"/>
      </concept>
      <concept>
        <code value="255210"/>
        <display value="Mitochondrial DNA-associated Leigh syndrome"/>
      </concept>
      <concept>
        <code value="255229"/>
        <display value="Navajo neurohepatopathy"/>
      </concept>
      <concept>
        <code value="255235"/>
        <display
                 value="Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy"/>
      </concept>
      <concept>
        <code value="260305"/>
        <display value="Autosomal recessive sideroblastic anemia"/>
      </concept>
      <concept>
        <code value="261102"/>
        <display value="Distal 7q11.23 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="261112"/>
        <display value="Monosomy 9p"/>
      </concept>
      <concept>
        <code value="261120"/>
        <display value="14q11.2 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261144"/>
        <display value="FOXG1 syndrome due to 14q12 microdeletion"/>
      </concept>
      <concept>
        <code value="261183"/>
        <display value="15q11.2 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261190"/>
        <display
                 value="Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion"/>
      </concept>
      <concept>
        <code value="261197"/>
        <display value="Proximal 16p11.2 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261204"/>
        <display value="16p11.2p12.2 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="261211"/>
        <display value="16p11.2p12.2 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261222"/>
        <display value="Distal 16p11.2 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261229"/>
        <display value="14q11.2 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="261236"/>
        <display value="16p13.11 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261243"/>
        <display value="16p13.11 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="261250"/>
        <display value="16q24.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261257"/>
        <display value="Distal 17p13.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261265"/>
        <display value="17q12 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261272"/>
        <display value="17q12 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="261279"/>
        <display value="17q23.1q23.2 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261290"/>
        <display value="Trisomy 17p"/>
      </concept>
      <concept>
        <code value="261295"/>
        <display value="20p12.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261304"/>
        <display value="Paternal 20q13.2q13.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261311"/>
        <display value="20q13.33 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261318"/>
        <display value="Trisomy 20p"/>
      </concept>
      <concept>
        <code value="261323"/>
        <display value="21q22.11q22.12 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261330"/>
        <display value="Distal 22q11.2 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261337"/>
        <display value="Distal 22q11.2 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="261344"/>
        <display value="Trisomy 1q"/>
      </concept>
      <concept>
        <code value="261349"/>
        <display value="2p15p16.1 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261476"/>
        <display value="Xp21 deletion syndrome"/>
      </concept>
      <concept>
        <code value="261483"/>
        <display value="Xq27.3q28 duplication syndrome"/>
      </concept>
      <concept>
        <code value="261494"/>
        <display value="Kleefstra syndrome"/>
      </concept>
      <concept>
        <code value="261501"/>
        <display value="Atypical Norrie disease due to Xp11.3 microdeletion"/>
      </concept>
      <concept>
        <code value="261519"/>
        <display value="Maternal uniparental disomy of chromosome X"/>
      </concept>
      <concept>
        <code value="261524"/>
        <display value="Paternal uniparental disomy of chromosome X"/>
      </concept>
      <concept>
        <code value="261529"/>
        <display value="Ring chromosome Y syndrome"/>
      </concept>
      <concept>
        <code value="261534"/>
        <display value="49,XXXYY syndrome"/>
      </concept>
      <concept>
        <code value="261537"/>
        <display value="Mowat-Wilson syndrome due to monosomy 2q22"/>
      </concept>
      <concept>
        <code value="261552"/>
        <display value="Mowat-Wilson syndrome due to a ZEB2 point mutation"/>
      </concept>
      <concept>
        <code value="261584"/>
        <display
                 value="Familial adenomatous polyposis due to 5q22.2 microdeletion"/>
      </concept>
      <concept>
        <code value="261600"/>
        <display value="Alagille syndrome due to 20p12 microdeletion"/>
      </concept>
      <concept>
        <code value="261619"/>
        <display value="Alagille syndrome due to a JAG1 point mutation"/>
      </concept>
      <concept>
        <code value="261629"/>
        <display value="Alagille syndrome due to a NOTCH2 point mutation"/>
      </concept>
      <concept>
        <code value="261638"/>
        <display value="Okihiro syndrome due to 20q13 microdeletion"/>
      </concept>
      <concept>
        <code value="261647"/>
        <display value="Okihiro syndrome due to a point mutation"/>
      </concept>
      <concept>
        <code value="261652"/>
        <display value="Kleefstra syndrome due to a point mutation"/>
      </concept>
      <concept>
        <code value="263297"/>
        <display
                 value="Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency"/>
      </concept>
      <concept>
        <code value="263310"/>
        <display value="Thymoma type A"/>
      </concept>
      <concept>
        <code value="263317"/>
        <display value="Thymoma type B"/>
      </concept>
      <concept>
        <code value="263324"/>
        <display value="Thymoma type AB"/>
      </concept>
      <concept>
        <code value="263331"/>
        <display value="Well-differentiated thymic neuroendocrine carcinoma"/>
      </concept>
      <concept>
        <code value="263335"/>
        <display
                 value="Moderately-differentiated thymic neuroendocrine carcinoma"/>
      </concept>
      <concept>
        <code value="263339"/>
        <display
                 value="Poorly differentiated thymic neuroendocrine carcinoma"/>
      </concept>
      <concept>
        <code value="263347"/>
        <display value="MRCS syndrome"/>
      </concept>
      <concept>
        <code value="263352"/>
        <display value="Postcardiotomy right ventricular failure"/>
      </concept>
      <concept>
        <code value="263410"/>
        <display
                 value="Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome"/>
      </concept>
      <concept>
        <code value="263413"/>
        <display value="Angiosarcoma"/>
      </concept>
      <concept>
        <code value="263425"/>
        <display value="Nevus of Ota"/>
      </concept>
      <concept>
        <code value="263432"/>
        <display value="Nevus of Ito"/>
      </concept>
      <concept>
        <code value="263435"/>
        <display value="Congenital smooth muscle hamartoma"/>
      </concept>
      <concept>
        <code value="263455"/>
        <display value="Congenital hyperinsulinism due to HNF4A deficiency"/>
      </concept>
      <concept>
        <code value="263458"/>
        <display value="Hyperinsulinism due to INSR deficiency"/>
      </concept>
      <concept>
        <code value="263463"/>
        <display value="CHST3-related skeletal dysplasia"/>
      </concept>
      <concept>
        <code value="263479"/>
        <display value="Fuchs heterochromic iridocyclitis"/>
      </concept>
      <concept>
        <code value="263482"/>
        <display value="Spondyloepimetaphyseal dysplasia, Maroteaux type"/>
      </concept>
      <concept>
        <code value="263487"/>
        <display value="COG5-CDG"/>
      </concept>
      <concept>
        <code value="263494"/>
        <display value="DPM3-CDG"/>
      </concept>
      <concept>
        <code value="263501"/>
        <display value="COG4-CDG"/>
      </concept>
      <concept>
        <code value="263508"/>
        <display value="COG1-CDG"/>
      </concept>
      <concept>
        <code value="263516"/>
        <display value="Progressive myoclonic epilepsy type 3"/>
      </concept>
      <concept>
        <code value="263524"/>
        <display value="Acute necrotizing encephalopathy of childhood"/>
      </concept>
      <concept>
        <code value="263534"/>
        <display value="Acral peeling skin syndrome"/>
      </concept>
      <concept>
        <code value="263543"/>
        <display value="Generalized peeling skin syndrome"/>
      </concept>
      <concept>
        <code value="263548"/>
        <display value="Peeling skin syndrome type A"/>
      </concept>
      <concept>
        <code value="263553"/>
        <display value="Peeling skin syndrome type B"/>
      </concept>
      <concept>
        <code value="263662"/>
        <display value="Familial multiple meningioma"/>
      </concept>
      <concept>
        <code value="263665"/>
        <display value="NK-cell enteropathy"/>
      </concept>
      <concept>
        <code value="264200"/>
        <display value="14q22q23 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="264450"/>
        <display value="Trisomy 8p"/>
      </concept>
      <concept>
        <code value="264580"/>
        <display
                 value="Glycogen storage disease due to liver phosphorylase kinase deficiency"/>
      </concept>
      <concept>
        <code value="264675"/>
        <display value="Hereditary pulmonary alveolar proteinosis"/>
      </concept>
      <concept>
        <code value="264688"/>
        <display value="Congenital chylothorax"/>
      </concept>
      <concept>
        <code value="264691"/>
        <display value="Isolated pulmonary capillaritis"/>
      </concept>
      <concept>
        <code value="264978"/>
        <display
                 value="Drug or radiation exposure-related interstitial lung disease"/>
      </concept>
      <concept>
        <code value="268114"/>
        <display
                 value="RAS-associated autoimmune leukoproliferative disease"/>
      </concept>
      <concept>
        <code value="268129"/>
        <display value="Spheroid body myopathy"/>
      </concept>
      <concept>
        <code value="268139"/>
        <display value="Intraocular medulloepithelioma"/>
      </concept>
      <concept>
        <code value="268145"/>
        <display value="Classic maple syrup urine disease"/>
      </concept>
      <concept>
        <code value="268162"/>
        <display value="Intermediate maple syrup urine disease"/>
      </concept>
      <concept>
        <code value="268173"/>
        <display value="Intermittent maple syrup urine disease"/>
      </concept>
      <concept>
        <code value="268184"/>
        <display value="Thiamine-responsive maple syrup urine disease"/>
      </concept>
      <concept>
        <code value="268249"/>
        <display value="Mycophenolate mofetil embryopathy"/>
      </concept>
      <concept>
        <code value="268261"/>
        <display
                 value="DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion"/>
      </concept>
      <concept>
        <code value="268316"/>
        <display value="Complication in hemodialysis"/>
      </concept>
      <concept>
        <code value="268322"/>
        <display value="Hereditary thrombocytopenia with normal platelets"/>
      </concept>
      <concept>
        <code value="268363"/>
        <display value="Open iniencephaly"/>
      </concept>
      <concept>
        <code value="268366"/>
        <display value="Closed iniencephaly"/>
      </concept>
      <concept>
        <code value="268810"/>
        <display value="Isolated posterior meningocele"/>
      </concept>
      <concept>
        <code value="268820"/>
        <display value="Cranial meningocele"/>
      </concept>
      <concept>
        <code value="268823"/>
        <display value="Occipital encephalocele"/>
      </concept>
      <concept>
        <code value="268826"/>
        <display value="Parietal encephalocele"/>
      </concept>
      <concept>
        <code value="268829"/>
        <display value="Basal encephalocele"/>
      </concept>
      <concept>
        <code value="268861"/>
        <display value="Primary tethered cord syndrome"/>
      </concept>
      <concept>
        <code value="268865"/>
        <display value="Neurenteric cyst"/>
      </concept>
      <concept>
        <code value="268868"/>
        <display value="Isolated amyelia"/>
      </concept>
      <concept>
        <code value="268882"/>
        <display value="Arnold-Chiari malformation type I"/>
      </concept>
      <concept>
        <code value="268920"/>
        <display value="Isolated megalencephaly"/>
      </concept>
      <concept>
        <code value="268936"/>
        <display value="Isolated arhinencephaly"/>
      </concept>
      <concept>
        <code value="268940"/>
        <display value="Bilateral polymicrogyria"/>
      </concept>
      <concept>
        <code value="268943"/>
        <display value="Unilateral polymicrogyria"/>
      </concept>
      <concept>
        <code value="268947"/>
        <display value="Unilateral focal polymicrogyria"/>
      </concept>
      <concept>
        <code value="268961"/>
        <display value="Isolated focal cortical dysplasia type I"/>
      </concept>
      <concept>
        <code value="268973"/>
        <display value="Isolated focal cortical dysplasia type Ia"/>
      </concept>
      <concept>
        <code value="268980"/>
        <display value="Isolated focal cortical dysplasia type Ib"/>
      </concept>
      <concept>
        <code value="268987"/>
        <display value="Isolated focal cortical dysplasia type Ic"/>
      </concept>
      <concept>
        <code value="268994"/>
        <display value="Isolated focal cortical dysplasia type II"/>
      </concept>
      <concept>
        <code value="269001"/>
        <display value="Isolated focal cortical dysplasia type IIa"/>
      </concept>
      <concept>
        <code value="269008"/>
        <display value="Isolated focal cortical dysplasia type IIb"/>
      </concept>
      <concept>
        <code value="269197"/>
        <display value="Glioependymal/ependymal cyst"/>
      </concept>
      <concept>
        <code value="269203"/>
        <display value="Isolated cerebellar vermis agenesis"/>
      </concept>
      <concept>
        <code value="269206"/>
        <display value="Isolated total cerebellar vermis agenesis"/>
      </concept>
      <concept>
        <code value="269209"/>
        <display value="Isolated partial cerebellar vermis agenesis"/>
      </concept>
      <concept>
        <code value="269212"/>
        <display
                 value="Isolated Dandy-Walker malformation with hydrocephalus"/>
      </concept>
      <concept>
        <code value="269215"/>
        <display
                 value="Isolated Dandy-Walker malformation without hydrocephalus"/>
      </concept>
      <concept>
        <code value="269218"/>
        <display
                 value="Isolated unilateral hemispheric cerebellar hypoplasia"/>
      </concept>
      <concept>
        <code value="269221"/>
        <display
                 value="Isolated bilateral hemispheric cerebellar hypoplasia"/>
      </concept>
      <concept>
        <code value="269229"/>
        <display value="Pontine tegmental cap dysplasia"/>
      </concept>
      <concept>
        <code value="269505"/>
        <display value="Congenital communicating hydrocephalus"/>
      </concept>
      <concept>
        <code value="269510"/>
        <display value="Congenital non-communicating hydrocephalus"/>
      </concept>
      <concept>
        <code value="271861"/>
        <display value="Hereditary ATTR amyloidosis"/>
      </concept>
      <concept>
        <code value="275517"/>
        <display
                 value="Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency"/>
      </concept>
      <concept>
        <code value="275523"/>
        <display value="Dianzani autoimmune lymphoproliferative disease"/>
      </concept>
      <concept>
        <code value="275543"/>
        <display value="L1 syndrome"/>
      </concept>
      <concept>
        <code value="275555"/>
        <display value="Preeclampsia"/>
      </concept>
      <concept>
        <code value="275761"/>
        <display value="Lysosomal acid lipase deficiency"/>
      </concept>
      <concept>
        <code value="275766"/>
        <display value="Idiopathic pulmonary arterial hypertension"/>
      </concept>
      <concept>
        <code value="275777"/>
        <display value="Heritable pulmonary arterial hypertension"/>
      </concept>
      <concept>
        <code value="275864"/>
        <display value="Behavioral variant of frontotemporal dementia"/>
      </concept>
      <concept>
        <code value="275872"/>
        <display value="Frontotemporal dementia with motor neuron disease"/>
      </concept>
      <concept>
        <code value="275944"/>
        <display
                 value="Hemolytic disease of the newborn with Kell alloimmunization"/>
      </concept>
      <concept>
        <code value="276066"/>
        <display
                 value="Bile acid CoA ligase deficiency and defective amidation"/>
      </concept>
      <concept>
        <code value="276145"/>
        <display value="Malignant epithelial tumor of salivary glands"/>
      </concept>
      <concept>
        <code value="276148"/>
        <display value="Benign epithelial tumor of salivary glands"/>
      </concept>
      <concept>
        <code value="276152"/>
        <display value="Multiple endocrine neoplasia type 4"/>
      </concept>
      <concept>
        <code value="276174"/>
        <display value="Idiopathic recurrent stupor"/>
      </concept>
      <concept>
        <code value="276183"/>
        <display value="Spinocerebellar ataxia type 32"/>
      </concept>
      <concept>
        <code value="276193"/>
        <display value="Spinocerebellar ataxia type 35"/>
      </concept>
      <concept>
        <code value="276198"/>
        <display value="Spinocerebellar ataxia type 36"/>
      </concept>
      <concept>
        <code value="276212"/>
        <display value="Mucopolysaccharidosis type 6, rapidly progressing"/>
      </concept>
      <concept>
        <code value="276223"/>
        <display value="Mucopolysaccharidosis type 6, slowly progressing"/>
      </concept>
      <concept>
        <code value="276234"/>
        <display
                 value="Non-syndromic male infertility due to sperm motility disorder"/>
      </concept>
      <concept>
        <code value="276238"/>
        <display value="Machado-Joseph disease type 1"/>
      </concept>
      <concept>
        <code value="276241"/>
        <display value="Machado-Joseph disease type 2"/>
      </concept>
      <concept>
        <code value="276244"/>
        <display value="Machado-Joseph disease type 3"/>
      </concept>
      <concept>
        <code value="276280"/>
        <display value="Hemihyperplasia-multiple lipomatosis syndrome"/>
      </concept>
      <concept>
        <code value="276399"/>
        <display value="Familial multinodular goiter"/>
      </concept>
      <concept>
        <code value="276405"/>
        <display value="Hyperbiliverdinemia"/>
      </concept>
      <concept>
        <code value="276413"/>
        <display value="10q22.3q23.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="276422"/>
        <display value="10q22.3q23.3 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="276429"/>
        <display value="Hypnic headache"/>
      </concept>
      <concept>
        <code value="276432"/>
        <display value="Ogden syndrome"/>
      </concept>
      <concept>
        <code value="276435"/>
        <display value="Lower motor neuron syndrome with late-adult onset"/>
      </concept>
      <concept>
        <code value="276556"/>
        <display value="Hyperinsulinism due to UCP2 deficiency"/>
      </concept>
      <concept>
        <code value="276575"/>
        <display
                 value="Autosomal dominant hyperinsulinism due to SUR1 deficiency"/>
      </concept>
      <concept>
        <code value="276580"/>
        <display
                 value="Autosomal dominant hyperinsulinism due to Kir6.2 deficiency"/>
      </concept>
      <concept>
        <code value="276598"/>
        <display
                 value="Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency"/>
      </concept>
      <concept>
        <code value="276603"/>
        <display
                 value="Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency"/>
      </concept>
      <concept>
        <code value="276608"/>
        <display
                 value="Non-insulinoma pancreatogenous hypoglycemia syndrome"/>
      </concept>
      <concept>
        <code value="276621"/>
        <display value="Sporadic pheochromocytoma/secreting paraganglioma"/>
      </concept>
      <concept>
        <code value="276630"/>
        <display
                 value="Symptomatic form of Coffin-Lowry syndrome in female carriers"/>
      </concept>
      <concept>
        <code value="279882"/>
        <display value="Spasmus nutans"/>
      </concept>
      <concept>
        <code value="279888"/>
        <display value="Acute endophthalmitis"/>
      </concept>
      <concept>
        <code value="279891"/>
        <display value="Chronic endophthalmitis"/>
      </concept>
      <concept>
        <code value="279894"/>
        <display value="Toxic maculopathy due to antimalarial drugs"/>
      </concept>
      <concept>
        <code value="279897"/>
        <display value="Primary oculocerebral lymphoma"/>
      </concept>
      <concept>
        <code value="279904"/>
        <display value="Primary intraocular lymphoma"/>
      </concept>
      <concept>
        <code value="279914"/>
        <display value="Intermediate uveitis"/>
      </concept>
      <concept>
        <code value="279919"/>
        <display value="Infectious posterior uveitis"/>
      </concept>
      <concept>
        <code value="279922"/>
        <display value="Infectious anterior uveitis"/>
      </concept>
      <concept>
        <code value="279925"/>
        <display value="Infectious panuveitis"/>
      </concept>
      <concept>
        <code value="279928"/>
        <display value="Paraneoplastic uveitis"/>
      </concept>
      <concept>
        <code value="279934"/>
        <display
                 value="Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency"/>
      </concept>
      <concept>
        <code value="279943"/>
        <display value="Hereditary neutrophilia"/>
      </concept>
      <concept>
        <code value="279947"/>
        <display value="Postorgasmic illness syndrome"/>
      </concept>
      <concept>
        <code value="280062"/>
        <display value="Calciphylaxis"/>
      </concept>
      <concept>
        <code value="280065"/>
        <display value="Calciphylaxis cutis"/>
      </concept>
      <concept>
        <code value="280068"/>
        <display value="Visceral calciphylaxis"/>
      </concept>
      <concept>
        <code value="280071"/>
        <display value="ALG11-CDG"/>
      </concept>
      <concept>
        <code value="280133"/>
        <display value="Complement component 3 deficiency"/>
      </concept>
      <concept>
        <code value="280142"/>
        <display
                 value="Severe combined immunodeficiency due to LCK deficiency"/>
      </concept>
      <concept>
        <code value="280183"/>
        <display
                 value="Methylmalonic aciduria due to transcobalamin receptor defect"/>
      </concept>
      <concept>
        <code value="280195"/>
        <display value="Septopreoptic holoprosencephaly"/>
      </concept>
      <concept>
        <code value="280200"/>
        <display value="Microform holoprosencephaly"/>
      </concept>
      <concept>
        <code value="280205"/>
        <display value="Laryngotracheoesophageal cleft type 0"/>
      </concept>
      <concept>
        <code value="280210"/>
        <display value="Pelizaeus-Merzbacher disease, connatal form"/>
      </concept>
      <concept>
        <code value="280219"/>
        <display value="Pelizaeus-Merzbacher disease, classic form"/>
      </concept>
      <concept>
        <code value="280224"/>
        <display value="Pelizaeus-Merzbacher disease, transitional form"/>
      </concept>
      <concept>
        <code value="280229"/>
        <display value="Pelizaeus-Merzbacher disease in female carriers"/>
      </concept>
      <concept>
        <code value="280234"/>
        <display value="Null syndrome"/>
      </concept>
      <concept>
        <code value="280270"/>
        <display value="Pelizaeus-Merzbacher-like disease"/>
      </concept>
      <concept>
        <code value="280282"/>
        <display
                 value="Pelizaeus-Merzbacher-like disease due to GJC2 mutation"/>
      </concept>
      <concept>
        <code value="280288"/>
        <display
                 value="Pelizaeus-Merzbacher-like disease due to HSPD1 mutation"/>
      </concept>
      <concept>
        <code value="280293"/>
        <display
                 value="Pelizaeus-Merzbacher-like disease due to AIMP1 mutation"/>
      </concept>
      <concept>
        <code value="280302"/>
        <display value="Autoimmune pancreatitis type 1"/>
      </concept>
      <concept>
        <code value="280315"/>
        <display value="Autoimmune pancreatitis type 2"/>
      </concept>
      <concept>
        <code value="280325"/>
        <display value="Distal deletion 12p"/>
      </concept>
      <concept>
        <code value="280333"/>
        <display
                 value="Alpha-dystroglycan-related limb-girdle muscular dystrophy R16"/>
      </concept>
      <concept>
        <code value="280356"/>
        <display value="PLIN1-related familial partial lipodystrophy"/>
      </concept>
      <concept>
        <code value="280365"/>
        <display
                 value="Autosomal semi-dominant severe lipodystrophic laminopathy"/>
      </concept>
      <concept>
        <code value="280379"/>
        <display
                 value="Erythropoietic uroporphyria associated with myeloid malignancy"/>
      </concept>
      <concept>
        <code value="280384"/>
        <display
                 value="Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome"/>
      </concept>
      <concept>
        <code value="280397"/>
        <display value="Familial Alzheimer-like prion disease"/>
      </concept>
      <concept>
        <code value="280403"/>
        <display
                 value="Familial omphalocele syndrome with facial dysmorphism"/>
      </concept>
      <concept>
        <code value="280406"/>
        <display
                 value="Familial steroid-resistant nephrotic syndrome with sensorineural deafness"/>
      </concept>
      <concept>
        <code value="280553"/>
        <display value="Fatal infantile hypertonic myofibrillar myopathy"/>
      </concept>
      <concept>
        <code value="280558"/>
        <display value="Warsaw breakage syndrome"/>
      </concept>
      <concept>
        <code value="280576"/>
        <display value="Nestor-Guillermo progeria syndrome"/>
      </concept>
      <concept>
        <code value="280586"/>
        <display
                 value="Chondrodysplasia with joint dislocations, gPAPP type"/>
      </concept>
      <concept>
        <code value="280598"/>
        <display
                 value="Hereditary sensorimotor neuropathy with hyperelastic skin"/>
      </concept>
      <concept>
        <code value="280615"/>
        <display value="Hemoglobinopathy Toms River"/>
      </concept>
      <concept>
        <code value="280620"/>
        <display value="Progressive myoclonic epilepsy type 6"/>
      </concept>
      <concept>
        <code value="280628"/>
        <display value="Familial progressive hyper- and hypopigmentation"/>
      </concept>
      <concept>
        <code value="280633"/>
        <display
                 value="Multiple congenital anomalies-hypotonia-seizures syndrome"/>
      </concept>
      <concept>
        <code value="280640"/>
        <display value="Occipital pachygyria and polymicrogyria"/>
      </concept>
      <concept>
        <code value="280654"/>
        <display value="Autosomal recessive nail dysplasia"/>
      </concept>
      <concept>
        <code value="280671"/>
        <display value="Megaconial congenital muscular dystrophy"/>
      </concept>
      <concept>
        <code value="280679"/>
        <display
                 value="Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome"/>
      </concept>
      <concept>
        <code value="280763"/>
        <display
                 value="Severe intellectual disability and progressive spastic paraplegia"/>
      </concept>
      <concept>
        <code value="280774"/>
        <display value="Generalized essential telangiectasia"/>
      </concept>
      <concept>
        <code value="280779"/>
        <display value="Cutaneous collagenous vasculopathy"/>
      </concept>
      <concept>
        <code value="280785"/>
        <display value="Bullous diffuse cutaneous mastocytosis"/>
      </concept>
      <concept>
        <code value="280794"/>
        <display value="Pseudoxanthomatous diffuse cutaneous mastocytosis"/>
      </concept>
      <concept>
        <code value="280802"/>
        <display value="Intralobar congenital pulmonary sequestration"/>
      </concept>
      <concept>
        <code value="280811"/>
        <display value="Extralobar congenital pulmonary sequestration"/>
      </concept>
      <concept>
        <code value="280821"/>
        <display
                 value="Communicating congenital bronchopulmonary-foregut malformation"/>
      </concept>
      <concept>
        <code value="280827"/>
        <display value="Congenital pulmonary airway malformation type 0"/>
      </concept>
      <concept>
        <code value="280832"/>
        <display value="Congenital pulmonary airway malformation type 1"/>
      </concept>
      <concept>
        <code value="280840"/>
        <display value="Congenital pulmonary airway malformation type 2"/>
      </concept>
      <concept>
        <code value="280847"/>
        <display value="Congenital pulmonary airway malformation type 3"/>
      </concept>
      <concept>
        <code value="280854"/>
        <display value="Congenital pulmonary airway malformation type 4"/>
      </concept>
      <concept>
        <code value="280917"/>
        <display value="Idiopathic posterior uveitis"/>
      </concept>
      <concept>
        <code value="280921"/>
        <display value="Idiopathic panuveitis"/>
      </concept>
      <concept>
        <code value="281090"/>
        <display value="Syndromic recessive X-linked ichthyosis"/>
      </concept>
      <concept>
        <code value="281122"/>
        <display value="Self-improving collodion baby"/>
      </concept>
      <concept>
        <code value="281127"/>
        <display value="Acral self-healing collodion baby"/>
      </concept>
      <concept>
        <code value="281139"/>
        <display value="Annular epidermolytic ichthyosis"/>
      </concept>
      <concept>
        <code value="281190"/>
        <display value="Congenital reticular ichthyosiform erythroderma"/>
      </concept>
      <concept>
        <code value="281201"/>
        <display
                 value="Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome"/>
      </concept>
      <concept>
        <code value="282166"/>
        <display value="Inherited Creutzfeldt-Jakob disease"/>
      </concept>
      <concept>
        <code value="284139"/>
        <display value="Larsen-like syndrome, B3GAT3 type"/>
      </concept>
      <concept>
        <code value="284149"/>
        <display value="Craniosynostosis-dental anomalies"/>
      </concept>
      <concept>
        <code value="284160"/>
        <display value="8q21.11 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="284169"/>
        <display
                 value="Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion"/>
      </concept>
      <concept>
        <code value="284180"/>
        <display value="Xp22.13p22.2 duplication syndrome"/>
      </concept>
      <concept>
        <code value="284227"/>
        <display value="TEMPI syndrome"/>
      </concept>
      <concept>
        <code value="284232"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2O"/>
      </concept>
      <concept>
        <code value="284247"/>
        <display value="Familial retinal arterial macroaneurysm"/>
      </concept>
      <concept>
        <code value="284271"/>
        <display
                 value="Autosomal recessive cerebellar ataxia-psychomotor delay syndrome"/>
      </concept>
      <concept>
        <code value="284282"/>
        <display
                 value="Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency"/>
      </concept>
      <concept>
        <code value="284289"/>
        <display value="Adult-onset autosomal recessive cerebellar ataxia"/>
      </concept>
      <concept>
        <code value="284324"/>
        <display
                 value="Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia"/>
      </concept>
      <concept>
        <code value="284332"/>
        <display
                 value="Infantile-onset autosomal recessive nonprogressive cerebellar ataxia"/>
      </concept>
      <concept>
        <code value="284339"/>
        <display value="Pontocerebellar hypoplasia type 7"/>
      </concept>
      <concept>
        <code value="284343"/>
        <display value="DICER1 tumor-predisposition syndrome"/>
      </concept>
      <concept>
        <code value="284362"/>
        <display value="Fetal lung interstitial tumor"/>
      </concept>
      <concept>
        <code value="284388"/>
        <display value="Reversible cerebral vasoconstriction syndrome"/>
      </concept>
      <concept>
        <code value="284395"/>
        <display
                 value="Well-differentiated fetal adenocarcinoma of the lung"/>
      </concept>
      <concept>
        <code value="284400"/>
        <display value="Small cell carcinoma of the bladder"/>
      </concept>
      <concept>
        <code value="284411"/>
        <display value="Glycerol kinase deficiency, juvenile form"/>
      </concept>
      <concept>
        <code value="284414"/>
        <display value="Glycerol kinase deficiency, adult form"/>
      </concept>
      <concept>
        <code value="284417"/>
        <display
                 value="Phosphoserine aminotransferase deficiency, infantile/juvenile form"/>
      </concept>
      <concept>
        <code value="284426"/>
        <display
                 value="Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"/>
      </concept>
      <concept>
        <code value="284435"/>
        <display
                 value="Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency"/>
      </concept>
      <concept>
        <code value="284448"/>
        <display value="CLIPPERS"/>
      </concept>
      <concept>
        <code value="284454"/>
        <display value="Acute zonal occult outer retinopathy"/>
      </concept>
      <concept>
        <code value="284460"/>
        <display value="Acute annular outer retinopathy"/>
      </concept>
      <concept>
        <code value="284963"/>
        <display value="Marfan syndrome type 1"/>
      </concept>
      <concept>
        <code value="284973"/>
        <display value="Marfan syndrome type 2"/>
      </concept>
      <concept>
        <code value="284979"/>
        <display value="Neonatal Marfan syndrome"/>
      </concept>
      <concept>
        <code value="284984"/>
        <display value="Aneurysm-osteoarthritis syndrome"/>
      </concept>
      <concept>
        <code value="289157"/>
        <display value="Hypocalcemic vitamin D-dependent rickets"/>
      </concept>
      <concept>
        <code value="289176"/>
        <display value="Autosomal recessive hypophosphatemic rickets"/>
      </concept>
      <concept>
        <code value="289266"/>
        <display
                 value="Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation"/>
      </concept>
      <concept>
        <code value="289290"/>
        <display
                 value="Hypermethioninemia encephalopathy due to adenosine kinase deficiency"/>
      </concept>
      <concept>
        <code value="289307"/>
        <display
                 value="Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="289326"/>
        <display value="Tropical spastic paraparesis"/>
      </concept>
      <concept>
        <code value="289347"/>
        <display value="Infective dermatitis associated with HTLV-1"/>
      </concept>
      <concept>
        <code value="289356"/>
        <display value="Primary non-gestational choriocarcinoma of ovary"/>
      </concept>
      <concept>
        <code value="289362"/>
        <display
                 value="Non-central nervous system-localized embryonal carcinoma"/>
      </concept>
      <concept>
        <code value="289365"/>
        <display value="Familial vesicoureteral reflux"/>
      </concept>
      <concept>
        <code value="289377"/>
        <display value="Early-onset myopathy with fatal cardiomyopathy"/>
      </concept>
      <concept>
        <code value="289380"/>
        <display value="Myosclerosis"/>
      </concept>
      <concept>
        <code value="289385"/>
        <display value="Malignancy diagnosed during pregnancy"/>
      </concept>
      <concept>
        <code value="289390"/>
        <display value="Primary Sjögren syndrome"/>
      </concept>
      <concept>
        <code value="289465"/>
        <display value="Isolated congenital adermatoglyphia"/>
      </concept>
      <concept>
        <code value="289478"/>
        <display value="PASH syndrome"/>
      </concept>
      <concept>
        <code value="289483"/>
        <display value="Intellectual disability-alacrima-achalasia syndrome"/>
      </concept>
      <concept>
        <code value="289494"/>
        <display value="4H leukodystrophy"/>
      </concept>
      <concept>
        <code value="289499"/>
        <display
                 value="Congenital cataract microcornea with corneal opacity"/>
      </concept>
      <concept>
        <code value="289504"/>
        <display value="Combined malonic and methylmalonic acidemia"/>
      </concept>
      <concept>
        <code value="289513"/>
        <display value="12q15q21.1 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="289522"/>
        <display value="Microtriplication 11q24.1"/>
      </concept>
      <concept>
        <code value="289539"/>
        <display value="BAP1-related tumor predisposition syndrome"/>
      </concept>
      <concept>
        <code value="289548"/>
        <display
                 value="Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency"/>
      </concept>
      <concept>
        <code value="289553"/>
        <display
                 value="Dysmorphism-conductive hearing loss-heart defect syndrome"/>
      </concept>
      <concept>
        <code value="289560"/>
        <display
                 value="Mitochondrial membrane protein-associated neurodegeneration"/>
      </concept>
      <concept>
        <code value="289586"/>
        <display value="Exfoliative ichthyosis"/>
      </concept>
      <concept>
        <code value="289596"/>
        <display value="Juvenile nasopharyngeal angiofibroma"/>
      </concept>
      <concept>
        <code value="289601"/>
        <display
                 value="Hereditary arterial and articular multiple calcification syndrome"/>
      </concept>
      <concept>
        <code value="289661"/>
        <display
                 value="Epstein-Barr virus-positive diffuse large B-cell lymphoma"/>
      </concept>
      <concept>
        <code value="289666"/>
        <display value="Plasmablastic lymphoma"/>
      </concept>
      <concept>
        <code value="289682"/>
        <display value="Lymphoepithelial-like carcinoma"/>
      </concept>
      <concept>
        <code value="289685"/>
        <display value="Myopericytoma"/>
      </concept>
      <concept>
        <code value="289846"/>
        <display
                 value="Glutathione synthetase deficiency with 5-oxoprolinuria"/>
      </concept>
      <concept>
        <code value="289849"/>
        <display
                 value="Glutathione synthetase deficiency without 5-oxoprolinuria"/>
      </concept>
      <concept>
        <code value="289857"/>
        <display value="Neonatal glycine encephalopathy"/>
      </concept>
      <concept>
        <code value="289860"/>
        <display value="Infantile glycine encephalopathy"/>
      </concept>
      <concept>
        <code value="289863"/>
        <display value="Atypical glycine encephalopathy"/>
      </concept>
      <concept>
        <code value="289877"/>
        <display value="Transient hyperammonemia of the newborn"/>
      </concept>
      <concept>
        <code value="289891"/>
        <display
                 value="Hypermethioninemia due to glycine N-methyltransferase deficiency"/>
      </concept>
      <concept>
        <code value="289916"/>
        <display
                 value="Vitamin B12-unresponsive methylmalonic acidemia type mut0"/>
      </concept>
      <concept>
        <code value="293144"/>
        <display value="Familial clubfoot due to 5q31 microdeletion"/>
      </concept>
      <concept>
        <code value="293150"/>
        <display value="Familial clubfoot due to PITX1 point mutation"/>
      </concept>
      <concept>
        <code value="293165"/>
        <display
                 value="Skin fragility-woolly hair-palmoplantar keratoderma syndrome"/>
      </concept>
      <concept>
        <code value="293168"/>
        <display
                 value="Infantile-onset ascending hereditary spastic paralysis"/>
      </concept>
      <concept>
        <code value="293173"/>
        <display value="Acute generalized exanthematous pustulosis"/>
      </concept>
      <concept>
        <code value="293181"/>
        <display value="Malignant migrating focal seizures of infancy"/>
      </concept>
      <concept>
        <code value="293199"/>
        <display value="Pleomorphic rhabdomyosarcoma"/>
      </concept>
      <concept>
        <code value="293202"/>
        <display value="Epithelioid sarcoma"/>
      </concept>
      <concept>
        <code value="293208"/>
        <display value="Celiac artery compression syndrome"/>
      </concept>
      <concept>
        <code value="293284"/>
        <display
                 value="Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria"/>
      </concept>
      <concept>
        <code value="293375"/>
        <display value="Grayson-Wilbrandt corneal dystrophy"/>
      </concept>
      <concept>
        <code value="293381"/>
        <display value="Epithelial recurrent erosion dystrophy"/>
      </concept>
      <concept>
        <code value="293462"/>
        <display value="Pre-Descemet corneal dystrophy"/>
      </concept>
      <concept>
        <code value="293603"/>
        <display value="Congenital hereditary endothelial dystrophy type II"/>
      </concept>
      <concept>
        <code value="293621"/>
        <display value="X-linked endothelial corneal dystrophy"/>
      </concept>
      <concept>
        <code value="293633"/>
        <display value="PYCR1-related De Barsy syndrome"/>
      </concept>
      <concept>
        <code value="293707"/>
        <display
                 value="Blepharophimosis-intellectual disability syndrome, MKB type"/>
      </concept>
      <concept>
        <code value="293725"/>
        <display
                 value="Blepharophimosis-intellectual disability syndrome, Verloes type"/>
      </concept>
      <concept>
        <code value="293807"/>
        <display value="Ketamine-induced biliary dilatation"/>
      </concept>
      <concept>
        <code value="293812"/>
        <display value="Fixed drug eruption"/>
      </concept>
      <concept>
        <code value="293822"/>
        <display
                 value="MITF-related melanoma and renal cell carcinoma predisposition syndrome"/>
      </concept>
      <concept>
        <code value="293825"/>
        <display value="Congenital dyserythropoietic anemia type IV"/>
      </concept>
      <concept>
        <code value="293843"/>
        <display value="3MC syndrome"/>
      </concept>
      <concept>
        <code value="293864"/>
        <display
                 value="Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome"/>
      </concept>
      <concept>
        <code value="293888"/>
        <display
                 value="Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant"/>
      </concept>
      <concept>
        <code value="293899"/>
        <display
                 value="Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant"/>
      </concept>
      <concept>
        <code value="293910"/>
        <display
                 value="Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant"/>
      </concept>
      <concept>
        <code value="293925"/>
        <display
                 value="Lethal occipital encephalocele-skeletal dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="293936"/>
        <display value="EDICT syndrome"/>
      </concept>
      <concept>
        <code value="293939"/>
        <display value="Distal Xq28 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="293948"/>
        <display value="1p21.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="293955"/>
        <display
                 value="Childhood encephalopathy due to thiamine pyrophosphokinase deficiency"/>
      </concept>
      <concept>
        <code value="293958"/>
        <display
                 value="Hypertelorism-preauricular sinus-punctual pits-deafness syndrome"/>
      </concept>
      <concept>
        <code value="293964"/>
        <display
                 value="Hypoinsulinemic hypoglycemia and body hemihypertrophy"/>
      </concept>
      <concept>
        <code value="293967"/>
        <display
                 value="Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="293978"/>
        <display
                 value="Deficiency in anterior pituitary function-variable immunodeficiency syndrome"/>
      </concept>
      <concept>
        <code value="293987"/>
        <display
                 value="Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome"/>
      </concept>
      <concept>
        <code value="294016"/>
        <display value="Microcephaly-capillary malformation syndrome"/>
      </concept>
      <concept>
        <code value="294023"/>
        <display value="Neonatal inflammatory skin and bowel disease"/>
      </concept>
      <concept>
        <code value="294026"/>
        <display
                 value="Syndactyly-nystagmus syndrome due to 2q31.1 microduplication"/>
      </concept>
      <concept>
        <code value="294415"/>
        <display value="Renal-hepatic-pancreatic dysplasia"/>
      </concept>
      <concept>
        <code value="294422"/>
        <display value="Chronic intestinal failure"/>
      </concept>
      <concept>
        <code value="294967"/>
        <display value="Isolated amelia of upper limb"/>
      </concept>
      <concept>
        <code value="294969"/>
        <display value="Isolated amelia of lower limb"/>
      </concept>
      <concept>
        <code value="294971"/>
        <display value="Isolated tetra-amelia"/>
      </concept>
      <concept>
        <code value="294973"/>
        <display value="Isolated humeral agenesis/hypoplasia"/>
      </concept>
      <concept>
        <code value="294975"/>
        <display
                 value="Isolated absence of upper arm and forearm with hand present"/>
      </concept>
      <concept>
        <code value="294977"/>
        <display
                 value="Isolated absence of thigh and lower leg with foot present"/>
      </concept>
      <concept>
        <code value="294979"/>
        <display value="Isolated absence of both forearm and hand"/>
      </concept>
      <concept>
        <code value="294981"/>
        <display value="Isolated absence of both lower leg and foot"/>
      </concept>
      <concept>
        <code value="294983"/>
        <display value="Isolated acheiria"/>
      </concept>
      <concept>
        <code value="294986"/>
        <display value="Isolated apodia"/>
      </concept>
      <concept>
        <code value="294988"/>
        <display value="Isolated hypoplasia of thumb"/>
      </concept>
      <concept>
        <code value="295000"/>
        <display value="Amniotic band syndrome"/>
      </concept>
      <concept>
        <code value="295002"/>
        <display value="Isolated hyperphalangy"/>
      </concept>
      <concept>
        <code value="295004"/>
        <display value="Central polydactyly"/>
      </concept>
      <concept>
        <code value="295012"/>
        <display value="Syndactyly type 6"/>
      </concept>
      <concept>
        <code value="295014"/>
        <display value="Familial isolated clinodactyly of fingers"/>
      </concept>
      <concept>
        <code value="295016"/>
        <display value="Camptodactyly of fingers"/>
      </concept>
      <concept>
        <code value="295018"/>
        <display value="Congenital pseudoarthrosis of the tibia"/>
      </concept>
      <concept>
        <code value="295020"/>
        <display value="Congenital pseudoarthrosis of the femur"/>
      </concept>
      <concept>
        <code value="295022"/>
        <display value="Congenital pseudoarthrosis of the fibula"/>
      </concept>
      <concept>
        <code value="295024"/>
        <display value="Congenital pseudoarthrosis of the radius"/>
      </concept>
      <concept>
        <code value="295026"/>
        <display value="Congenital pseudoarthrosis of the ulna"/>
      </concept>
      <concept>
        <code value="295028"/>
        <display value="Isolated tibio-fibular synostosis"/>
      </concept>
      <concept>
        <code value="295030"/>
        <display value="True congenital shoulder dislocation"/>
      </concept>
      <concept>
        <code value="295032"/>
        <display value="Isolated congenital radial head dislocation"/>
      </concept>
      <concept>
        <code value="295034"/>
        <display value="Congenital knee dislocation"/>
      </concept>
      <concept>
        <code value="295036"/>
        <display value="Congenital patella dislocation"/>
      </concept>
      <concept>
        <code value="295044"/>
        <display value="Macrodactyly of fingers"/>
      </concept>
      <concept>
        <code value="295047"/>
        <display value="Macrodactyly of toes"/>
      </concept>
      <concept>
        <code value="295049"/>
        <display value="Upper limb hypertrophy"/>
      </concept>
      <concept>
        <code value="295051"/>
        <display value="Lower limb hypertrophy"/>
      </concept>
      <concept>
        <code value="295187"/>
        <display value="Zygodactyly type 1"/>
      </concept>
      <concept>
        <code value="295189"/>
        <display value="Zygodactyly type 2"/>
      </concept>
      <concept>
        <code value="295191"/>
        <display value="Zygodactyly type 3"/>
      </concept>
      <concept>
        <code value="295193"/>
        <display value="Zygodactyly type 4"/>
      </concept>
      <concept>
        <code value="295195"/>
        <display value="Synpolydactyly type 1"/>
      </concept>
      <concept>
        <code value="295197"/>
        <display value="Synpolydactyly type 2"/>
      </concept>
      <concept>
        <code value="295199"/>
        <display value="Synpolydactyly type 3"/>
      </concept>
      <concept>
        <code value="295201"/>
        <display value="Congenital vertical talus, unilateral"/>
      </concept>
      <concept>
        <code value="295203"/>
        <display value="Congenital vertical talus, bilateral"/>
      </concept>
      <concept>
        <code value="295225"/>
        <display value="Congenital elbow dislocation, unilateral"/>
      </concept>
      <concept>
        <code value="295227"/>
        <display value="Congenital elbow dislocation, bilateral"/>
      </concept>
      <concept>
        <code value="295229"/>
        <display value="Congenital genu recurvatum"/>
      </concept>
      <concept>
        <code value="295232"/>
        <display value="Congenital genu flexum"/>
      </concept>
      <concept>
        <code value="295239"/>
        <display value="Macrodactyly of fingers, unilateral"/>
      </concept>
      <concept>
        <code value="295241"/>
        <display value="Macrodactyly of fingers, bilateral"/>
      </concept>
      <concept>
        <code value="295243"/>
        <display value="Macrodactyly of toes, unilateral"/>
      </concept>
      <concept>
        <code value="295245"/>
        <display value="Macrodactyly of toes, bilateral"/>
      </concept>
      <concept>
        <code value="300179"/>
        <display
                 value="Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency"/>
      </concept>
      <concept>
        <code value="300284"/>
        <display
                 value="Connective tissue disorder due to lysyl hydroxylase-3 deficiency"/>
      </concept>
      <concept>
        <code value="300293"/>
        <display
                 value="Transient infantile hypertriglyceridemia and hepatosteatosis"/>
      </concept>
      <concept>
        <code value="300298"/>
        <display
                 value="Severe congenital hypochromic anemia with ringed sideroblasts"/>
      </concept>
      <concept>
        <code value="300305"/>
        <display value="11p15.4 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="300313"/>
        <display
                 value="Congenital cataract-hearing loss-severe developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="300319"/>
        <display value="Charcot-Marie-Tooth disease type 2P"/>
      </concept>
      <concept>
        <code value="300324"/>
        <display value="Persistent polyclonal B-cell lymphocytosis"/>
      </concept>
      <concept>
        <code value="300333"/>
        <display
                 value="Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome"/>
      </concept>
      <concept>
        <code value="300345"/>
        <display value="Autosomal systemic lupus erythematosus"/>
      </concept>
      <concept>
        <code value="300359"/>
        <display
                 value="PLCG2-associated antibody deficiency and immune dysregulation"/>
      </concept>
      <concept>
        <code value="300373"/>
        <display value="X-linked acrogigantism"/>
      </concept>
      <concept>
        <code value="300382"/>
        <display
                 value="Progeroid and marfanoid aspect-lipodystrophy syndrome"/>
      </concept>
      <concept>
        <code value="300385"/>
        <display value="Pituitary carcinoma"/>
      </concept>
      <concept>
        <code value="300493"/>
        <display value="Sagliker syndrome"/>
      </concept>
      <concept>
        <code value="300496"/>
        <display
                 value="Multiple congenital anomalies-hypotonia-seizures syndrome type 2"/>
      </concept>
      <concept>
        <code value="300501"/>
        <display
                 value="Painful orbital and systemic neurofibromas-marfanoid habitus syndrome"/>
      </concept>
      <concept>
        <code value="300504"/>
        <display value="Onychocytic matricoma"/>
      </concept>
      <concept>
        <code value="300512"/>
        <display value="Onychomatricoma"/>
      </concept>
      <concept>
        <code value="300525"/>
        <display value="Pseudohypoaldosteronism type 2D"/>
      </concept>
      <concept>
        <code value="300530"/>
        <display value="Pseudohypoaldosteronism type 2E"/>
      </concept>
      <concept>
        <code value="300536"/>
        <display value="DDOST-CDG"/>
      </concept>
      <concept>
        <code value="300547"/>
        <display value="Autosomal recessive infantile hypercalcemia"/>
      </concept>
      <concept>
        <code value="300552"/>
        <display value="Follicular cholangitis and pancreatitis"/>
      </concept>
      <concept>
        <code value="300557"/>
        <display value="Carcinoma of the ampulla of Vater"/>
      </concept>
      <concept>
        <code value="300564"/>
        <display value="Combined pulmonary fibrosis-emphysema syndrome"/>
      </concept>
      <concept>
        <code value="300570"/>
        <display
                 value="Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation"/>
      </concept>
      <concept>
        <code value="300573"/>
        <display value="Polymicrogyria due to TUBB2B mutation"/>
      </concept>
      <concept>
        <code value="300576"/>
        <display value="Oligodontia-cancer predisposition syndrome"/>
      </concept>
      <concept>
        <code value="300605"/>
        <display value="Juvenile amyotrophic lateral sclerosis"/>
      </concept>
      <concept>
        <code value="300751"/>
        <display
                 value="Familial dilated cardiomyopathy with conduction defect due to LMNA mutation"/>
      </concept>
      <concept>
        <code value="300849"/>
        <display
                 value="Diffuse large B-cell lymphoma of the central nervous system"/>
      </concept>
      <concept>
        <code value="300857"/>
        <display value="T-cell/histiocyte rich large B cell lymphoma"/>
      </concept>
      <concept>
        <code value="300865"/>
        <display value="Primary cutaneous anaplastic large cell lymphoma"/>
      </concept>
      <concept>
        <code value="300869"/>
        <display value="Splenic diffuse red pulp small B-cell lymphoma"/>
      </concept>
      <concept>
        <code value="300878"/>
        <display value="Hairy cell leukemia variant"/>
      </concept>
      <concept>
        <code value="300888"/>
        <display
                 value="Diffuse large B-cell lymphoma with chronic inflammation"/>
      </concept>
      <concept>
        <code value="300895"/>
        <display value="ALK-positive anaplastic large cell lymphoma"/>
      </concept>
      <concept>
        <code value="300903"/>
        <display value="ALK-negative anaplastic large cell lymphoma"/>
      </concept>
      <concept>
        <code value="306431"/>
        <display
                 value="Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies"/>
      </concept>
      <concept>
        <code value="306504"/>
        <display
                 value="Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome"/>
      </concept>
      <concept>
        <code value="306511"/>
        <display value="Autosomal recessive spastic paraplegia type 48"/>
      </concept>
      <concept>
        <code value="306516"/>
        <display
                 value="Primary hypomagnesemia with hypercalciuria and nephrocalcinosis"/>
      </concept>
      <concept>
        <code value="306527"/>
        <display value="Isolated hereditary congenital facial paralysis"/>
      </concept>
      <concept>
        <code value="306530"/>
        <display
                 value="Congenital hereditary facial paralysis-variable hearing loss syndrome"/>
      </concept>
      <concept>
        <code value="306542"/>
        <display
                 value="Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome"/>
      </concept>
      <concept>
        <code value="306547"/>
        <display
                 value="Porencephaly-microcephaly-bilateral congenital cataract syndrome"/>
      </concept>
      <concept>
        <code value="306550"/>
        <display value="FADD-related immunodeficiency"/>
      </concept>
      <concept>
        <code value="306553"/>
        <display value="Myospherulosis"/>
      </concept>
      <concept>
        <code value="306558"/>
        <display
                 value="Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome"/>
      </concept>
      <concept>
        <code value="306577"/>
        <display
                 value="Hereditary sodium channelopathy-related small fibers neuropathy"/>
      </concept>
      <concept>
        <code value="306617"/>
        <display value="X-linked complicated spastic paraplegia type 1"/>
      </concept>
      <concept>
        <code value="306644"/>
        <display value="Complication after organ transplantation"/>
      </concept>
      <concept>
        <code value="306658"/>
        <display value="Familial normophosphatemic tumoral calcinosis"/>
      </concept>
      <concept>
        <code value="306661"/>
        <display
                 value="Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome"/>
      </concept>
      <concept>
        <code value="306669"/>
        <display value="Hemiparkinsonism-hemiatrophy syndrome"/>
      </concept>
      <concept>
        <code value="306674"/>
        <display value="Kufor-Rakeb syndrome"/>
      </concept>
      <concept>
        <code value="306682"/>
        <display value="Manganese poisoning"/>
      </concept>
      <concept>
        <code value="306686"/>
        <display
                 value="Delayed encephalopathy due to carbon monoxide poisoning"/>
      </concept>
      <concept>
        <code value="306692"/>
        <display value="Cyanide-induced parkinsonism-dystonia"/>
      </concept>
      <concept>
        <code value="306731"/>
        <display value="Sydenham chorea"/>
      </concept>
      <concept>
        <code value="306734"/>
        <display value="Primary dystonia, DYT21 type"/>
      </concept>
      <concept>
        <code value="306741"/>
        <display value="Hemidystonia-hemiatrophy syndrome"/>
      </concept>
      <concept>
        <code value="306776"/>
        <display value="Sporadic hyperekplexia"/>
      </concept>
      <concept>
        <code value="307766"/>
        <display value="Curly hair-acral keratoderma-caries syndrome"/>
      </concept>
      <concept>
        <code value="307936"/>
        <display
                 value="Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome"/>
      </concept>
      <concept>
        <code value="308013"/>
        <display value="Focal acral hyperkeratosis"/>
      </concept>
      <concept>
        <code value="308380"/>
        <display value="Methylcobalamin deficiency type cblDv1"/>
      </concept>
      <concept>
        <code value="308386"/>
        <display
                 value="Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A"/>
      </concept>
      <concept>
        <code value="308393"/>
        <display
                 value="Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"/>
      </concept>
      <concept>
        <code value="308400"/>
        <display
                 value="Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"/>
      </concept>
      <concept>
        <code value="308410"/>
        <display
                 value="Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency"/>
      </concept>
      <concept>
        <code value="308425"/>
        <display
                 value="Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency"/>
      </concept>
      <concept>
        <code value="308442"/>
        <display
                 value="Vitamin B12-responsive methylmalonic acidemia, type cblDv2"/>
      </concept>
      <concept>
        <code value="308473"/>
        <display value="Erythrocyte galactose epimerase deficiency"/>
      </concept>
      <concept>
        <code value="308487"/>
        <display value="Generalized galactose epimerase deficiency"/>
      </concept>
      <concept>
        <code value="308552"/>
        <display
                 value="Glycogen storage disease due to acid maltase deficiency, infantile onset"/>
      </concept>
      <concept>
        <code value="308621"/>
        <display
                 value="Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form"/>
      </concept>
      <concept>
        <code value="308638"/>
        <display
                 value="Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form"/>
      </concept>
      <concept>
        <code value="308655"/>
        <display
                 value="Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form"/>
      </concept>
      <concept>
        <code value="308670"/>
        <display
                 value="Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form"/>
      </concept>
      <concept>
        <code value="308684"/>
        <display
                 value="Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form"/>
      </concept>
      <concept>
        <code value="308698"/>
        <display
                 value="Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form"/>
      </concept>
      <concept>
        <code value="308712"/>
        <display
                 value="Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form"/>
      </concept>
      <concept>
        <code value="309015"/>
        <display value="Familial lipoprotein lipase deficiency"/>
      </concept>
      <concept>
        <code value="309020"/>
        <display value="Familial apolipoprotein C-II deficiency"/>
      </concept>
      <concept>
        <code value="309025"/>
        <display value="Mevalonate kinase deficiency"/>
      </concept>
      <concept>
        <code value="309031"/>
        <display value="Pancreatic triacylglycerol lipase deficiency"/>
      </concept>
      <concept>
        <code value="309108"/>
        <display value="Pancreatic colipase deficiency"/>
      </concept>
      <concept>
        <code value="309111"/>
        <display value="Combined pancreatic lipase-colipase deficiency"/>
      </concept>
      <concept>
        <code value="309147"/>
        <display value="Hyper-beta-alaninemia"/>
      </concept>
      <concept>
        <code value="309155"/>
        <display value="Sandhoff disease, infantile form"/>
      </concept>
      <concept>
        <code value="309162"/>
        <display value="Sandhoff disease, juvenile form"/>
      </concept>
      <concept>
        <code value="309169"/>
        <display value="Sandhoff disease, adult form"/>
      </concept>
      <concept>
        <code value="309178"/>
        <display value="Tay-Sachs disease, infantile form"/>
      </concept>
      <concept>
        <code value="309185"/>
        <display value="Tay-Sachs disease, juvenile form"/>
      </concept>
      <concept>
        <code value="309192"/>
        <display value="Tay-Sachs disease, adult form"/>
      </concept>
      <concept>
        <code value="309246"/>
        <display value="GM2 gangliosidosis, AB variant"/>
      </concept>
      <concept>
        <code value="309252"/>
        <display
                 value="Atypical Gaucher disease due to saposin C deficiency"/>
      </concept>
      <concept>
        <code value="309256"/>
        <display value="Metachromatic leukodystrophy, late infantile form"/>
      </concept>
      <concept>
        <code value="309263"/>
        <display value="Metachromatic leukodystrophy, juvenile form"/>
      </concept>
      <concept>
        <code value="309271"/>
        <display value="Metachromatic leukodystrophy, adult form"/>
      </concept>
      <concept>
        <code value="309282"/>
        <display value="Alpha-mannosidosis, infantile form"/>
      </concept>
      <concept>
        <code value="309288"/>
        <display value="Alpha-mannosidosis, adult form"/>
      </concept>
      <concept>
        <code value="309297"/>
        <display value="Mucopolysaccharidosis type 4A"/>
      </concept>
      <concept>
        <code value="309310"/>
        <display value="Mucopolysaccharidosis type 4B"/>
      </concept>
      <concept>
        <code value="309324"/>
        <display value="Free sialic acid storage disease, infantile form"/>
      </concept>
      <concept>
        <code value="309331"/>
        <display value="Intermediate severe Salla disease"/>
      </concept>
      <concept>
        <code value="309334"/>
        <display value="Salla disease"/>
      </concept>
      <concept>
        <code value="309789"/>
        <display value="Rhizomelic chondrodysplasia punctata type 1"/>
      </concept>
      <concept>
        <code value="309796"/>
        <display value="Rhizomelic chondrodysplasia punctata type 2"/>
      </concept>
      <concept>
        <code value="309803"/>
        <display value="Rhizomelic chondrodysplasia punctata type 3"/>
      </concept>
      <concept>
        <code value="309854"/>
        <display
                 value="Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"/>
      </concept>
      <concept>
        <code value="313772"/>
        <display
                 value="Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome"/>
      </concept>
      <concept>
        <code value="313781"/>
        <display value="20p13 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="313795"/>
        <display value="Jawad syndrome"/>
      </concept>
      <concept>
        <code value="313800"/>
        <display
                 value="Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome"/>
      </concept>
      <concept>
        <code value="313808"/>
        <display
                 value="Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia"/>
      </concept>
      <concept>
        <code value="313838"/>
        <display value="Coats plus syndrome"/>
      </concept>
      <concept>
        <code value="313846"/>
        <display
                 value="Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome"/>
      </concept>
      <concept>
        <code value="313850"/>
        <display value="Infantile cerebellar-retinal degeneration"/>
      </concept>
      <concept>
        <code value="313855"/>
        <display value="FGFR2-related bent bone dysplasia"/>
      </concept>
      <concept>
        <code value="313884"/>
        <display value="12p12.1 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="313892"/>
        <display
                 value="Developmental and speech delay due to SOX5 deficiency"/>
      </concept>
      <concept>
        <code value="313906"/>
        <display value="Congenital pancreatic cyst"/>
      </concept>
      <concept>
        <code value="313920"/>
        <display value="Epstein-Barr virus-associated gastric carcinoma"/>
      </concept>
      <concept>
        <code value="313936"/>
        <display value="PENS syndrome"/>
      </concept>
      <concept>
        <code value="313947"/>
        <display value="2q23.1 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="314002"/>
        <display
                 value="Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome"/>
      </concept>
      <concept>
        <code value="314017"/>
        <display value="Idiopathic linear interstitial keratitis"/>
      </concept>
      <concept>
        <code value="314022"/>
        <display
                 value="Gastric adenocarcinoma and proximal polyposis of the stomach"/>
      </concept>
      <concept>
        <code value="314029"/>
        <display value="High bone mass osteogenesis imperfecta"/>
      </concept>
      <concept>
        <code value="314034"/>
        <display value="7p22.1 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="314041"/>
        <display
                 value="Marfanoid habitus-inguinal hernia-advanced bone age syndrome"/>
      </concept>
      <concept>
        <code value="314051"/>
        <display
                 value="Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"/>
      </concept>
      <concept>
        <code value="314373"/>
        <display
                 value="Chronic infantile diarrhea due to guanylate cyclase 2C overactivity"/>
      </concept>
      <concept>
        <code value="314376"/>
        <display
                 value="Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency"/>
      </concept>
      <concept>
        <code value="314381"/>
        <display value="Hereditary sensory and autonomic neuropathy type 6"/>
      </concept>
      <concept>
        <code value="314389"/>
        <display value="Xq12-q13.3 duplication syndrome"/>
      </concept>
      <concept>
        <code value="314394"/>
        <display
                 value="Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome"/>
      </concept>
      <concept>
        <code value="314399"/>
        <display value="Autosomal dominant aplasia and myelodysplasia"/>
      </concept>
      <concept>
        <code value="314404"/>
        <display
                 value="Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome"/>
      </concept>
      <concept>
        <code value="314419"/>
        <display value="Ameloblastoma"/>
      </concept>
      <concept>
        <code value="314422"/>
        <display value="Ameloblastic carcinoma"/>
      </concept>
      <concept>
        <code value="314432"/>
        <display value="Spigelian hernia-cryptorchidism syndrome"/>
      </concept>
      <concept>
        <code value="314451"/>
        <display value="Meigs syndrome"/>
      </concept>
      <concept>
        <code value="314459"/>
        <display value="Pseudo-Meigs syndrome"/>
      </concept>
      <concept>
        <code value="314466"/>
        <display value="Atypical Meigs syndrome"/>
      </concept>
      <concept>
        <code value="314473"/>
        <display value="Ovarian fibroma"/>
      </concept>
      <concept>
        <code value="314478"/>
        <display value="Ovarian fibrothecoma"/>
      </concept>
      <concept>
        <code value="314485"/>
        <display
                 value="Young adult-onset distal hereditary motor neuropathy"/>
      </concept>
      <concept>
        <code value="314555"/>
        <display
                 value="Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome"/>
      </concept>
      <concept>
        <code value="314566"/>
        <display value="Primary progressive apraxia of speech"/>
      </concept>
      <concept>
        <code value="314572"/>
        <display
                 value="Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome"/>
      </concept>
      <concept>
        <code value="314575"/>
        <display
                 value="Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome"/>
      </concept>
      <concept>
        <code value="314585"/>
        <display value="15q overgrowth syndrome"/>
      </concept>
      <concept>
        <code value="314588"/>
        <display value="Distal triplication 15q"/>
      </concept>
      <concept>
        <code value="314597"/>
        <display value="Chudley-McCullough syndrome"/>
      </concept>
      <concept>
        <code value="314603"/>
        <display
                 value="Autosomal recessive spastic ataxia with leukoencephalopathy"/>
      </concept>
      <concept>
        <code value="314613"/>
        <display value="Growing teratoma syndrome"/>
      </concept>
      <concept>
        <code value="314621"/>
        <display value="Duplication of the pituitary gland"/>
      </concept>
      <concept>
        <code value="314629"/>
        <display value="CLN11 disease"/>
      </concept>
      <concept>
        <code value="314632"/>
        <display value="CLN12 disease"/>
      </concept>
      <concept>
        <code value="314637"/>
        <display
                 value="Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"/>
      </concept>
      <concept>
        <code value="314647"/>
        <display
                 value="Non-progressive cerebellar ataxia with intellectual disability"/>
      </concept>
      <concept>
        <code value="314652"/>
        <display value="Variant ABeta2M amyloidosis"/>
      </concept>
      <concept>
        <code value="314655"/>
        <display
                 value="Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion"/>
      </concept>
      <concept>
        <code value="314662"/>
        <display
                 value="Segmental progressive overgrowth syndrome with fibroadipose hyperplasia"/>
      </concept>
      <concept>
        <code value="314667"/>
        <display value="TMEM165-CDG"/>
      </concept>
      <concept>
        <code value="314679"/>
        <display value="Cerebrofacioarticular syndrome"/>
      </concept>
      <concept>
        <code value="314684"/>
        <display value="Primary bone lymphoma"/>
      </concept>
      <concept>
        <code value="314689"/>
        <display value="Combined immunodeficiency due to STK4 deficiency"/>
      </concept>
      <concept>
        <code value="314697"/>
        <display value="Acquired porencephaly"/>
      </concept>
      <concept>
        <code value="314701"/>
        <display value="Primary systemic amyloidosis"/>
      </concept>
      <concept>
        <code value="314709"/>
        <display value="Primary localized amyloidosis"/>
      </concept>
      <concept>
        <code value="314718"/>
        <display
                 value="Lethal arteriopathy syndrome due to fibulin-4 deficiency"/>
      </concept>
      <concept>
        <code value="314721"/>
        <display value="Atypical dentin dysplasia due to SMOC2 deficiency"/>
      </concept>
      <concept>
        <code value="314769"/>
        <display value="Somatomammotropinoma"/>
      </concept>
      <concept>
        <code value="314777"/>
        <display value="Familial isolated pituitary adenoma"/>
      </concept>
      <concept>
        <code value="314786"/>
        <display value="Silent pituitary adenoma"/>
      </concept>
      <concept>
        <code value="314790"/>
        <display value="Null pituitary adenoma"/>
      </concept>
      <concept>
        <code value="314795"/>
        <display value="SHOX-related short stature"/>
      </concept>
      <concept>
        <code value="314802"/>
        <display value="Short stature due to partial GHR deficiency"/>
      </concept>
      <concept>
        <code value="314811"/>
        <display value="Short stature due to GHSR deficiency"/>
      </concept>
      <concept>
        <code value="314889"/>
        <display value="Autosomal dominant proximal renal tubular acidosis"/>
      </concept>
      <concept>
        <code value="314911"/>
        <display value="Severe Canavan disease"/>
      </concept>
      <concept>
        <code value="314918"/>
        <display value="Mild Canavan disease"/>
      </concept>
      <concept>
        <code value="314950"/>
        <display value="Primary hypereosinophilic syndrome"/>
      </concept>
      <concept>
        <code value="314962"/>
        <display value="Secondary hypereosinophilic syndrome"/>
      </concept>
      <concept>
        <code value="314970"/>
        <display value="Lymphocytic hypereosinophilic syndrome"/>
      </concept>
      <concept>
        <code value="314978"/>
        <display value="X-linked non progressive cerebellar ataxia"/>
      </concept>
      <concept>
        <code value="314993"/>
        <display
                 value="Cataract-congenital heart disease-neural tube defect syndrome"/>
      </concept>
      <concept>
        <code value="315306"/>
        <display
                 value="Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form"/>
      </concept>
      <concept>
        <code value="315311"/>
        <display
                 value="Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form"/>
      </concept>
      <concept>
        <code value="317425"/>
        <display
                 value="Severe combined immunodeficiency due to DNA-PKcs deficiency"/>
      </concept>
      <concept>
        <code value="317428"/>
        <display value="Combined immunodeficiency due to ORAI1 deficiency"/>
      </concept>
      <concept>
        <code value="317430"/>
        <display value="Combined immunodeficiency due to STIM1 deficiency"/>
      </concept>
      <concept>
        <code value="317473"/>
        <display value="Pancytopenia due to IKZF1 mutations"/>
      </concept>
      <concept>
        <code value="317476"/>
        <display value="XMEN"/>
      </concept>
      <concept>
        <code value="319160"/>
        <display
                 value="Congenital myopathy with internal nuclei and atypical cores"/>
      </concept>
      <concept>
        <code value="319171"/>
        <display value="Distal 17p13.1 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="319182"/>
        <display value="Wiedemann-Steiner syndrome"/>
      </concept>
      <concept>
        <code value="319189"/>
        <display value="Familial cortical myoclonus"/>
      </concept>
      <concept>
        <code value="319192"/>
        <display value="Diencephalic-mesencephalic junction dysplasia"/>
      </concept>
      <concept>
        <code value="319195"/>
        <display value="Chondroectodermal dysplasia with night blindness"/>
      </concept>
      <concept>
        <code value="319199"/>
        <display value="Autosomal recessive spastic paraplegia type 53"/>
      </concept>
      <concept>
        <code value="319205"/>
        <display value="Bilateral massive adrenal hemorrhage"/>
      </concept>
      <concept>
        <code value="319213"/>
        <display value="Lujo hemorrhagic fever"/>
      </concept>
      <concept>
        <code value="319218"/>
        <display value="Ebola hemorrhagic fever"/>
      </concept>
      <concept>
        <code value="319223"/>
        <display value="Argentine hemorrhagic fever"/>
      </concept>
      <concept>
        <code value="319229"/>
        <display value="Bolivian hemorrhagic fever"/>
      </concept>
      <concept>
        <code value="319234"/>
        <display value="Venezuelan hemorrhagic fever"/>
      </concept>
      <concept>
        <code value="319239"/>
        <display value="Brazilian hemorrhagic fever"/>
      </concept>
      <concept>
        <code value="319244"/>
        <display value="Chapare hemorrhagic fever"/>
      </concept>
      <concept>
        <code value="319247"/>
        <display value="Hantavirus pulmonary syndrome"/>
      </concept>
      <concept>
        <code value="319251"/>
        <display value="Rift valley fever"/>
      </concept>
      <concept>
        <code value="319254"/>
        <display value="Kyasanur forest disease"/>
      </concept>
      <concept>
        <code value="319266"/>
        <display value="Omsk hemorrhagic fever"/>
      </concept>
      <concept>
        <code value="319276"/>
        <display value="Clear cell renal carcinoma"/>
      </concept>
      <concept>
        <code value="319287"/>
        <display
                 value="Multilocular cystic renal neoplasm of low malignant potential"/>
      </concept>
      <concept>
        <code value="319298"/>
        <display value="Papillary renal cell carcinoma"/>
      </concept>
      <concept>
        <code value="319303"/>
        <display value="Chromophobe renal cell carcinoma"/>
      </concept>
      <concept>
        <code value="319308"/>
        <display value="MiT family translocation renal cell carcinoma"/>
      </concept>
      <concept>
        <code value="319319"/>
        <display value="Renal medullary carcinoma"/>
      </concept>
      <concept>
        <code value="319322"/>
        <display value="Mucinous tubular and spindle cell renal carcinoma"/>
      </concept>
      <concept>
        <code value="319325"/>
        <display value="Tubulocystic renal cell carcinoma"/>
      </concept>
      <concept>
        <code value="319332"/>
        <display
                 value="Autosomal recessive myogenic arthrogryposis multiplex congenita"/>
      </concept>
      <concept>
        <code value="319340"/>
        <display value="Carney complex-trismus-pseudocamptodactyly syndrome"/>
      </concept>
      <concept>
        <code value="319462"/>
        <display
                 value="Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations"/>
      </concept>
      <concept>
        <code value="319465"/>
        <display value="Inherited acute myeloid leukemia"/>
      </concept>
      <concept>
        <code value="319480"/>
        <display value="Acute myeloid leukemia with CEBPA somatic mutations"/>
      </concept>
      <concept>
        <code value="319487"/>
        <display value="Familial papillary or follicular thyroid carcinoma"/>
      </concept>
      <concept>
        <code value="319504"/>
        <display value="Combined oxidative phosphorylation defect type 8"/>
      </concept>
      <concept>
        <code value="319509"/>
        <display value="Combined oxidative phosphorylation defect type 9"/>
      </concept>
      <concept>
        <code value="319514"/>
        <display value="Combined oxidative phosphorylation defect type 13"/>
      </concept>
      <concept>
        <code value="319519"/>
        <display value="Combined oxidative phosphorylation defect type 14"/>
      </concept>
      <concept>
        <code value="319524"/>
        <display value="Combined oxidative phosphorylation defect type 15"/>
      </concept>
      <concept>
        <code value="319547"/>
        <display
                 value="Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"/>
      </concept>
      <concept>
        <code value="319552"/>
        <display
                 value="Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"/>
      </concept>
      <concept>
        <code value="319558"/>
        <display
                 value="Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"/>
      </concept>
      <concept>
        <code value="319563"/>
        <display
                 value="Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"/>
      </concept>
      <concept>
        <code value="319569"/>
        <display
                 value="Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"/>
      </concept>
      <concept>
        <code value="319574"/>
        <display
                 value="Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"/>
      </concept>
      <concept>
        <code value="319581"/>
        <display
                 value="Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"/>
      </concept>
      <concept>
        <code value="319589"/>
        <display
                 value="Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"/>
      </concept>
      <concept>
        <code value="319595"/>
        <display
                 value="Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"/>
      </concept>
      <concept>
        <code value="319600"/>
        <display
                 value="Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"/>
      </concept>
      <concept>
        <code value="319605"/>
        <display
                 value="X-linked mendelian susceptibility to mycobacterial diseases"/>
      </concept>
      <concept>
        <code value="319612"/>
        <display
                 value="X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency"/>
      </concept>
      <concept>
        <code value="319623"/>
        <display
                 value="X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency"/>
      </concept>
      <concept>
        <code value="319635"/>
        <display value="Amyloidosis cutis dyschromia"/>
      </concept>
      <concept>
        <code value="319640"/>
        <display value="Retinal macular dystrophy type 2"/>
      </concept>
      <concept>
        <code value="319646"/>
        <display value="PGM1-CDG"/>
      </concept>
      <concept>
        <code value="319651"/>
        <display
                 value="Constitutional megaloblastic anemia with severe neurologic disease"/>
      </concept>
      <concept>
        <code value="319667"/>
        <display value="Primary lymphoma of the conjunctiva"/>
      </concept>
      <concept>
        <code value="319671"/>
        <display value="Alazami syndrome"/>
      </concept>
      <concept>
        <code value="319675"/>
        <display value="Microcephalic primordial dwarfism, Dauber type"/>
      </concept>
      <concept>
        <code value="319678"/>
        <display
                 value="Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"/>
      </concept>
      <concept>
        <code value="320355"/>
        <display value="Autosomal dominant spastic paraplegia type 41"/>
      </concept>
      <concept>
        <code value="320360"/>
        <display value="MT-ATP6-related mitochondrial spastic paraplegia"/>
      </concept>
      <concept>
        <code value="320365"/>
        <display value="Autosomal dominant spastic paraplegia type 36"/>
      </concept>
      <concept>
        <code value="320370"/>
        <display value="Autosomal recessive spastic paraplegia type 43"/>
      </concept>
      <concept>
        <code value="320375"/>
        <display value="Autosomal recessive spastic paraplegia type 55"/>
      </concept>
      <concept>
        <code value="320380"/>
        <display value="Autosomal recessive spastic paraplegia type 54"/>
      </concept>
      <concept>
        <code value="320385"/>
        <display
                 value="Hereditary sensory and autonomic neuropathy due to TECPR2 mutation"/>
      </concept>
      <concept>
        <code value="320391"/>
        <display value="Autosomal recessive spastic paraplegia type 46"/>
      </concept>
      <concept>
        <code value="320396"/>
        <display value="Autosomal recessive spastic paraplegia type 45"/>
      </concept>
      <concept>
        <code value="320401"/>
        <display value="Autosomal recessive spastic paraplegia type 44"/>
      </concept>
      <concept>
        <code value="320406"/>
        <display
                 value="Spastic paraplegia-optic atrophy-neuropathy syndrome"/>
      </concept>
      <concept>
        <code value="320411"/>
        <display value="Autosomal recessive spastic paraplegia type 56"/>
      </concept>
      <concept>
        <code value="324262"/>
        <display
                 value="Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency"/>
      </concept>
      <concept>
        <code value="324290"/>
        <display value="Early-onset Lafora body disease"/>
      </concept>
      <concept>
        <code value="324294"/>
        <display
                 value="T-cell immunodeficiency with epidermodysplasia verruciformis"/>
      </concept>
      <concept>
        <code value="324299"/>
        <display
                 value="Multiple paragangliomas associated with polycythemia"/>
      </concept>
      <concept>
        <code value="324307"/>
        <display
                 value="Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="324313"/>
        <display value="9p13 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="324321"/>
        <display value="Sinoatrial node dysfunction and deafness"/>
      </concept>
      <concept>
        <code value="324353"/>
        <display value="Congenital achiasma"/>
      </concept>
      <concept>
        <code value="324364"/>
        <display
                 value="Mixed sclerosing bone dystrophy with extra-skeletal manifestations"/>
      </concept>
      <concept>
        <code value="324381"/>
        <display value="Hereditary inclusion body myopathy type 4"/>
      </concept>
      <concept>
        <code value="324410"/>
        <display
                 value="X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"/>
      </concept>
      <concept>
        <code value="324416"/>
        <display
                 value="Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome"/>
      </concept>
      <concept>
        <code value="324422"/>
        <display value="ALG13-CDG"/>
      </concept>
      <concept>
        <code value="324442"/>
        <display
                 value="Autosomal recessive axonal neuropathy with neuromyotonia"/>
      </concept>
      <concept>
        <code value="324525"/>
        <display
                 value="Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation"/>
      </concept>
      <concept>
        <code value="324530"/>
        <display
                 value="Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation"/>
      </concept>
      <concept>
        <code value="324535"/>
        <display value="Combined oxidative phosphorylation defect type 11"/>
      </concept>
      <concept>
        <code value="324540"/>
        <display
                 value="Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="324561"/>
        <display
                 value="Hypopigmentation-punctate palmoplantar keratoderma syndrome"/>
      </concept>
      <concept>
        <code value="324569"/>
        <display value="Pontocerebellar hypoplasia type 8"/>
      </concept>
      <concept>
        <code value="324575"/>
        <display value="Hyperinsulinism due to HNF1A deficiency"/>
      </concept>
      <concept>
        <code value="324581"/>
        <display value="Benign Samaritan congenital myopathy"/>
      </concept>
      <concept>
        <code value="324585"/>
        <display
                 value="Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain"/>
      </concept>
      <concept>
        <code value="324588"/>
        <display value="Familial dyskinesia and facial myokymia"/>
      </concept>
      <concept>
        <code value="324601"/>
        <display value="X-linked cleft palate and ankyloglossia"/>
      </concept>
      <concept>
        <code value="324604"/>
        <display value="Classic multiminicore myopathy"/>
      </concept>
      <concept>
        <code value="324611"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation"/>
      </concept>
      <concept>
        <code value="324625"/>
        <display value="Chikungunya"/>
      </concept>
      <concept>
        <code value="324632"/>
        <display value="Hendra virus infection"/>
      </concept>
      <concept>
        <code value="324636"/>
        <display value="Autoerythrocyte sensitization syndrome"/>
      </concept>
      <concept>
        <code value="324648"/>
        <display value="Invasive non-typhoidal salmonellosis"/>
      </concept>
      <concept>
        <code value="324703"/>
        <display value="ABetaL34V amyloidosis"/>
      </concept>
      <concept>
        <code value="324708"/>
        <display value="ABeta amyloidosis, Iowa type"/>
      </concept>
      <concept>
        <code value="324713"/>
        <display value="ABeta amyloidosis, Italian type"/>
      </concept>
      <concept>
        <code value="324718"/>
        <display value="ABetaA21G amyloidosis"/>
      </concept>
      <concept>
        <code value="324723"/>
        <display value="ABeta amyloidosis, Arctic type"/>
      </concept>
      <concept>
        <code value="324737"/>
        <display value="SRD5A3-CDG"/>
      </concept>
      <concept>
        <code value="324964"/>
        <display
                 value="Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis"/>
      </concept>
      <concept>
        <code value="324972"/>
        <display value="MAGIC syndrome"/>
      </concept>
      <concept>
        <code value="324977"/>
        <display value="Proteasome-associated autoinflammatory syndrome"/>
      </concept>
      <concept>
        <code value="325124"/>
        <display value="Testicular agenesis"/>
      </concept>
      <concept>
        <code value="325345"/>
        <display value="46,XY ovotesticular difference of sex development"/>
      </concept>
      <concept>
        <code value="325448"/>
        <display value="Leydig cell hypoplasia due to LHB deficiency"/>
      </concept>
      <concept>
        <code value="325524"/>
        <display
                 value="Classic congenital lipoid adrenal hyperplasia due to STAR deficency"/>
      </concept>
      <concept>
        <code value="325529"/>
        <display
                 value="Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency"/>
      </concept>
      <concept>
        <code value="329173"/>
        <display
                 value="Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"/>
      </concept>
      <concept>
        <code value="329178"/>
        <display
                 value="Congenital muscular dystrophy with intellectual disability and severe epilepsy"/>
      </concept>
      <concept>
        <code value="329191"/>
        <display
                 value="Tall stature-long halluces-multiple extra-epiphyses syndrome"/>
      </concept>
      <concept>
        <code value="329195"/>
        <display
                 value="Developmental delay with autism spectrum disorder and gait instability"/>
      </concept>
      <concept>
        <code value="329211"/>
        <display
                 value="Autosomal dominant neovascular inflammatory vitreoretinopathy"/>
      </concept>
      <concept>
        <code value="329217"/>
        <display value="Cerebral sinovenous thrombosis"/>
      </concept>
      <concept>
        <code value="329224"/>
        <display value="Schuurs-Hoeijmakers syndrome"/>
      </concept>
      <concept>
        <code value="329228"/>
        <display
                 value="Microcephalic primordial dwarfism due to ZNF335 deficiency"/>
      </concept>
      <concept>
        <code value="329235"/>
        <display
                 value="X-linked central congenital hypothyroidism with late-onset testicular enlargement"/>
      </concept>
      <concept>
        <code value="329242"/>
        <display
                 value="Congenital chronic diarrhea with protein-losing enteropathy"/>
      </concept>
      <concept>
        <code value="329249"/>
        <display
                 value="Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"/>
      </concept>
      <concept>
        <code value="329258"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2Q"/>
      </concept>
      <concept>
        <code value="329284"/>
        <display value="Beta-propeller protein-associated neurodegeneration"/>
      </concept>
      <concept>
        <code value="329308"/>
        <display value="Fatty acid hydroxylase-associated neurodegeneration"/>
      </concept>
      <concept>
        <code value="329314"/>
        <display
                 value="Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency"/>
      </concept>
      <concept>
        <code value="329319"/>
        <display value="Thrombocythemia with distal limb defects"/>
      </concept>
      <concept>
        <code value="329324"/>
        <display value="Inverse Klippel-Trénaunay syndrome"/>
      </concept>
      <concept>
        <code value="329329"/>
        <display value="Autosomal recessive frontotemporal pachygyria"/>
      </concept>
      <concept>
        <code value="329332"/>
        <display
                 value="Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome"/>
      </concept>
      <concept>
        <code value="329336"/>
        <display
                 value="Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"/>
      </concept>
      <concept>
        <code value="329457"/>
        <display value="Distal arthrogryposis type 5D"/>
      </concept>
      <concept>
        <code value="329466"/>
        <display value="Autosomal dominant focal dystonia, DYT25 type"/>
      </concept>
      <concept>
        <code value="329469"/>
        <display
                 value="Acute megakaryoblastic leukemia in children without Down syndrome"/>
      </concept>
      <concept>
        <code value="329475"/>
        <display value="Spastic paraplegia-Paget disease of bone syndrome"/>
      </concept>
      <concept>
        <code value="329478"/>
        <display value="Adult-onset distal myopathy due to VCP mutation"/>
      </concept>
      <concept>
        <code value="329481"/>
        <display value="Lipoprotein glomerulopathy"/>
      </concept>
      <concept>
        <code value="329802"/>
        <display value="5p13 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="329813"/>
        <display value="Mosaic genome-wide paternal uniparental disomy"/>
      </concept>
      <concept>
        <code value="329874"/>
        <display value="Idiopathic giant cell myocarditis"/>
      </concept>
      <concept>
        <code value="329883"/>
        <display value="Non-hypoproteinemic hypertrophic gastropathy"/>
      </concept>
      <concept>
        <code value="329894"/>
        <display value="Juvenile overlap myositis"/>
      </concept>
      <concept>
        <code value="329903"/>
        <display
                 value="Immunoglobulin-mediated membranoproliferative glomerulonephritis"/>
      </concept>
      <concept>
        <code value="329918"/>
        <display value="C3 glomerulopathy"/>
      </concept>
      <concept>
        <code value="329931"/>
        <display value="C3 glomerulonephritis"/>
      </concept>
      <concept>
        <code value="329942"/>
        <display
                 value="Transient neonatal multiple acyl-CoA dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="329967"/>
        <display value="Intermittent hydrarthrosis"/>
      </concept>
      <concept>
        <code value="329971"/>
        <display
                 value="Generalized juvenile polyposis/juvenile polyposis coli"/>
      </concept>
      <concept>
        <code value="329977"/>
        <display value="Classic neuroendocrine tumor of appendix"/>
      </concept>
      <concept>
        <code value="329984"/>
        <display value="Goblet cell carcinoma"/>
      </concept>
      <concept>
        <code value="330001"/>
        <display value="Wild type ATTR amyloidosis"/>
      </concept>
      <concept>
        <code value="330012"/>
        <display value="High altitude pulmonary edema"/>
      </concept>
      <concept>
        <code value="330015"/>
        <display value="Lead poisoning"/>
      </concept>
      <concept>
        <code value="330021"/>
        <display value="Mercury poisoning"/>
      </concept>
      <concept>
        <code value="330029"/>
        <display value="Hypotrichosis-deafness syndrome"/>
      </concept>
      <concept>
        <code value="330032"/>
        <display value="Hemoglobin Lepore-beta-thalassemia syndrome"/>
      </concept>
      <concept>
        <code value="330041"/>
        <display value="Hemoglobin M disease"/>
      </concept>
      <concept>
        <code value="330050"/>
        <display
                 value="DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect"/>
      </concept>
      <concept>
        <code value="330054"/>
        <display
                 value="Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="330058"/>
        <display value="Hydroa vacciniforme"/>
      </concept>
      <concept>
        <code value="330061"/>
        <display value="Actinic prurigo"/>
      </concept>
      <concept>
        <code value="330064"/>
        <display value="Chronic actinic dermatitis"/>
      </concept>
      <concept>
        <code value="331176"/>
        <display
                 value="Severe congenital neutropenia due to G6PC3 deficiency"/>
      </concept>
      <concept>
        <code value="331187"/>
        <display value="Immunodeficiency due to MASP-2 deficiency"/>
      </concept>
      <concept>
        <code value="331190"/>
        <display value="Immunodeficiency due to ficolin3 deficiency"/>
      </concept>
      <concept>
        <code value="331206"/>
        <display
                 value="Severe combined immunodeficiency due to complete RAG1/2 deficiency"/>
      </concept>
      <concept>
        <code value="331226"/>
        <display value="Susceptibility to infection due to TYK2 deficiency"/>
      </concept>
      <concept>
        <code value="331235"/>
        <display value="Selective IgM deficiency"/>
      </concept>
      <concept>
        <code value="352328"/>
        <display value="MEGDEL syndrome"/>
      </concept>
      <concept>
        <code value="352333"/>
        <display
                 value="Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome"/>
      </concept>
      <concept>
        <code value="352403"/>
        <display
                 value="Spectrin-associated autosomal recessive cerebellar ataxia"/>
      </concept>
      <concept>
        <code value="352447"/>
        <display
                 value="Progressive external ophthalmoplegia-myopathy-emaciation syndrome"/>
      </concept>
      <concept>
        <code value="352470"/>
        <display value="DNA2-related mitochondrial DNA deletion syndrome"/>
      </concept>
      <concept>
        <code value="352479"/>
        <display value="ISPD-related limb-girdle muscular dystrophy R20"/>
      </concept>
      <concept>
        <code value="352490"/>
        <display value="Autism spectrum disorder due to AUTS2 deficiency"/>
      </concept>
      <concept>
        <code value="352530"/>
        <display
                 value="Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="352540"/>
        <display value="Oncogenic osteomalacia"/>
      </concept>
      <concept>
        <code value="352563"/>
        <display
                 value="Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"/>
      </concept>
      <concept>
        <code value="352577"/>
        <display value="Bainbridge-Ropers syndrome"/>
      </concept>
      <concept>
        <code value="352582"/>
        <display value="Familial infantile myoclonic epilepsy"/>
      </concept>
      <concept>
        <code value="352587"/>
        <display
                 value="Focal epilepsy-intellectual disability-cerebro-cerebellar malformation"/>
      </concept>
      <concept>
        <code value="352596"/>
        <display value="Progressive myoclonic epilepsy with dystonia"/>
      </concept>
      <concept>
        <code value="352629"/>
        <display value="16q24.1 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="352636"/>
        <display value="Phalangeal microgeodic syndrome"/>
      </concept>
      <concept>
        <code value="352641"/>
        <display
                 value="Autosomal recessive cerebellar ataxia with late-onset spasticity"/>
      </concept>
      <concept>
        <code value="352649"/>
        <display
                 value="Brain dopamine-serotonin vesicular transport disease"/>
      </concept>
      <concept>
        <code value="352654"/>
        <display
                 value="Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome"/>
      </concept>
      <concept>
        <code value="352657"/>
        <display value="Hereditary benign intraepithelial dyskeratosis"/>
      </concept>
      <concept>
        <code value="352662"/>
        <display
                 value="Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"/>
      </concept>
      <concept>
        <code value="352665"/>
        <display
                 value="Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion"/>
      </concept>
      <concept>
        <code value="352670"/>
        <display
                 value="Autosomal dominant intermediate Charcot-Marie-Tooth disease type F"/>
      </concept>
      <concept>
        <code value="352675"/>
        <display value="X-linked Charcot-Marie-Tooth disease type 6"/>
      </concept>
      <concept>
        <code value="352682"/>
        <display
                 value="Cobblestone lissencephaly without muscular or ocular involvement"/>
      </concept>
      <concept>
        <code value="352709"/>
        <display value="CLN13 disease"/>
      </concept>
      <concept>
        <code value="352712"/>
        <display
                 value="Facial dysmorphism-immunodeficiency-livedo-short stature syndrome"/>
      </concept>
      <concept>
        <code value="352718"/>
        <display
                 value="Progressive retinal dystrophy due to retinol transport defect"/>
      </concept>
      <concept>
        <code value="352723"/>
        <display value="Attenuated Chédiak-Higashi syndrome"/>
      </concept>
      <concept>
        <code value="352731"/>
        <display value="Oculocutaneous albinism type 1"/>
      </concept>
      <concept>
        <code value="352734"/>
        <display value="Minimal pigment oculocutaneous albinism type 1"/>
      </concept>
      <concept>
        <code value="352737"/>
        <display
                 value="Temperature-sensitive oculocutaneous albinism type 1"/>
      </concept>
      <concept>
        <code value="352745"/>
        <display value="Oculocutaneous albinism type 7"/>
      </concept>
      <concept>
        <code value="352763"/>
        <display value="Scleredema"/>
      </concept>
      <concept>
        <code value="353217"/>
        <display
                 value="Epileptic encephalopathy with global cerebral demyelination"/>
      </concept>
      <concept>
        <code value="353220"/>
        <display value="Familial primary localized cutaneous amyloidosis"/>
      </concept>
      <concept>
        <code value="353253"/>
        <display value="Burning mouth syndrome"/>
      </concept>
      <concept>
        <code value="353277"/>
        <display value="Rubinstein-Taybi syndrome due to CREBBP mutations"/>
      </concept>
      <concept>
        <code value="353281"/>
        <display
                 value="Rubinstein-Taybi syndrome due to 16p13.3 microdeletion"/>
      </concept>
      <concept>
        <code value="353284"/>
        <display
                 value="Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"/>
      </concept>
      <concept>
        <code value="353298"/>
        <display value="Roifman syndrome"/>
      </concept>
      <concept>
        <code value="353308"/>
        <display value="Pyruvate carboxylase deficiency, infantile type"/>
      </concept>
      <concept>
        <code value="353314"/>
        <display
                 value="Pyruvate carboxylase deficiency, severe neonatal type"/>
      </concept>
      <concept>
        <code value="353320"/>
        <display value="Pyruvate carboxylase deficiency, benign type"/>
      </concept>
      <concept>
        <code value="353327"/>
        <display
                 value="Congenital myasthenic syndromes with glycosylation defect"/>
      </concept>
      <concept>
        <code value="353334"/>
        <display value="Congenital retinal arteriovenous communication"/>
      </concept>
      <concept>
        <code value="353344"/>
        <display value="Idiopathic macular telangiectasia type 1"/>
      </concept>
      <concept>
        <code value="353351"/>
        <display value="Idiopathic macular telangiectasia type 3"/>
      </concept>
      <concept>
        <code value="353356"/>
        <display value="Vasoproliferative tumor of the retina"/>
      </concept>
      <concept>
        <code value="356947"/>
        <display value="3q26q27 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="356961"/>
        <display value="SLC35A2-CDG"/>
      </concept>
      <concept>
        <code value="356978"/>
        <display value="D,L-2-hydroxyglutaric aciduria"/>
      </concept>
      <concept>
        <code value="356996"/>
        <display
                 value="ANK3-related intellectual disability-sleep disturbance syndrome"/>
      </concept>
      <concept>
        <code value="357001"/>
        <display value="19p13.13 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="357008"/>
        <display value="Hemolytic uremic syndrome with DGKE deficiency"/>
      </concept>
      <concept>
        <code value="357027"/>
        <display value="Hereditary retinoblastoma"/>
      </concept>
      <concept>
        <code value="357034"/>
        <display value="Non-hereditary retinoblastoma"/>
      </concept>
      <concept>
        <code value="357043"/>
        <display value="Amyotrophic lateral sclerosis type 4"/>
      </concept>
      <concept>
        <code value="357058"/>
        <display value="Autosomal recessive cutis laxa type 2A"/>
      </concept>
      <concept>
        <code value="357064"/>
        <display value="Autosomal recessive cutis laxa type 2B"/>
      </concept>
      <concept>
        <code value="357074"/>
        <display value="Autosomal recessive cutis laxa type 2, classic type"/>
      </concept>
      <concept>
        <code value="357107"/>
        <display value="Arterial thoracic outlet syndrome"/>
      </concept>
      <concept>
        <code value="357131"/>
        <display value="Venous thoracic outlet syndrome"/>
      </concept>
      <concept>
        <code value="357154"/>
        <display value="Oral submucous fibrosis"/>
      </concept>
      <concept>
        <code value="357158"/>
        <display
                 value="Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome"/>
      </concept>
      <concept>
        <code value="357175"/>
        <display
                 value="Short ulna-dysmorphism-hypotonia-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="357220"/>
        <display value="Primary essential cutis verticis gyrata"/>
      </concept>
      <concept>
        <code value="357225"/>
        <display value="Primary non-essential cutis verticis gyrata"/>
      </concept>
      <concept>
        <code value="357237"/>
        <display value="Combined immunodeficiency due to CARD11 deficiency"/>
      </concept>
      <concept>
        <code value="357329"/>
        <display value="Combined immunodeficiency due to IL21R deficiency"/>
      </concept>
      <concept>
        <code value="357332"/>
        <display
                 value="Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome"/>
      </concept>
      <concept>
        <code value="363396"/>
        <display value="High myopia-sensorineural deafness syndrome"/>
      </concept>
      <concept>
        <code value="363400"/>
        <display
                 value="Severe neurodegenerative syndrome with lipodystrophy"/>
      </concept>
      <concept>
        <code value="363409"/>
        <display
                 value="Fetal akinesia-cerebral and retinal hemorrhage syndrome"/>
      </concept>
      <concept>
        <code value="363412"/>
        <display
                 value="Hypomyelination with brain stem and spinal cord involvement and leg spasticity"/>
      </concept>
      <concept>
        <code value="363417"/>
        <display value="Temtamy preaxial brachydactyly syndrome"/>
      </concept>
      <concept>
        <code value="363424"/>
        <display value="Multiple mitochondrial dysfunctions syndrome type 3"/>
      </concept>
      <concept>
        <code value="363429"/>
        <display
                 value="Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome"/>
      </concept>
      <concept>
        <code value="363432"/>
        <display
                 value="Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency"/>
      </concept>
      <concept>
        <code value="363444"/>
        <display
                 value="THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="363447"/>
        <display
                 value="Autosomal dominant childhood-onset proximal spinal muscular atrophy"/>
      </concept>
      <concept>
        <code value="363454"/>
        <display
                 value="BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy"/>
      </concept>
      <concept>
        <code value="363478"/>
        <display value="Paratesticular adenocarcinoma"/>
      </concept>
      <concept>
        <code value="363483"/>
        <display value="Testicular teratoma"/>
      </concept>
      <concept>
        <code value="363489"/>
        <display value="Sex cord-stromal tumor of testis"/>
      </concept>
      <concept>
        <code value="363494"/>
        <display value="Non-seminomatous germ cell tumor of testis"/>
      </concept>
      <concept>
        <code value="363523"/>
        <display
                 value="Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="363528"/>
        <display value="Intellectual disability-strabismus syndrome"/>
      </concept>
      <concept>
        <code value="363534"/>
        <display
                 value="Mitochondrial DNA depletion syndrome, hepatocerebrorenal form"/>
      </concept>
      <concept>
        <code value="363540"/>
        <display
                 value="Leukoencephalopathy with mild cerebellar ataxia and white matter edema"/>
      </concept>
      <concept>
        <code value="363549"/>
        <display
                 value="Acute encephalopathy with biphasic seizures and late reduced diffusion"/>
      </concept>
      <concept>
        <code value="363558"/>
        <display value="New-onset refractory status epilepticus"/>
      </concept>
      <concept>
        <code value="363611"/>
        <display value="CTCF-related neurodevelopmental disorder"/>
      </concept>
      <concept>
        <code value="363618"/>
        <display value="LMNA-related cardiocutaneous progeria syndrome"/>
      </concept>
      <concept>
        <code value="363623"/>
        <display value="GMPPB-related limb-girdle muscular dystrophy R19"/>
      </concept>
      <concept>
        <code value="363649"/>
        <display
                 value="Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome"/>
      </concept>
      <concept>
        <code value="363654"/>
        <display value="X-linked parkinsonism-spasticity syndrome"/>
      </concept>
      <concept>
        <code value="363659"/>
        <display value="20q11.2 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="363665"/>
        <display
                 value="Acroosteolysis-keloid-like lesions-premature aging syndrome"/>
      </concept>
      <concept>
        <code value="363677"/>
        <display
                 value="Childhood-onset autosomal recessive myopathy with external ophthalmoplegia"/>
      </concept>
      <concept>
        <code value="363680"/>
        <display value="2p13.2 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="363686"/>
        <display
                 value="Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"/>
      </concept>
      <concept>
        <code value="363694"/>
        <display
                 value="Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome"/>
      </concept>
      <concept>
        <code value="363700"/>
        <display
                 value="Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion"/>
      </concept>
      <concept>
        <code value="363705"/>
        <display value="Craniofaciofrontodigital syndrome"/>
      </concept>
      <concept>
        <code value="363710"/>
        <display value="Spinocerebellar ataxia type 37"/>
      </concept>
      <concept>
        <code value="363717"/>
        <display value="Alexander disease type I"/>
      </concept>
      <concept>
        <code value="363722"/>
        <display value="Alexander disease type II"/>
      </concept>
      <concept>
        <code value="363727"/>
        <display
                 value="X-linked dyserythropoietic anemia with abnormal platelets and neutropenia"/>
      </concept>
      <concept>
        <code value="363741"/>
        <display
                 value="Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="363746"/>
        <display value="Balint syndrome"/>
      </concept>
      <concept>
        <code value="363958"/>
        <display value="17q21.31 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="363965"/>
        <display value="Koolen-De Vries syndrome due to a point mutation"/>
      </concept>
      <concept>
        <code value="363969"/>
        <display value="Autosomal recessive cerebral atrophy"/>
      </concept>
      <concept>
        <code value="363972"/>
        <display
                 value="Noonan syndrome-like disorder with juvenile myelomonocytic leukemia"/>
      </concept>
      <concept>
        <code value="363976"/>
        <display value="Giant cell tumor of bone"/>
      </concept>
      <concept>
        <code value="363981"/>
        <display value="Charcot-Marie-Tooth disease type 4B3"/>
      </concept>
      <concept>
        <code value="363989"/>
        <display value="Familial benign flecked retina"/>
      </concept>
      <concept>
        <code value="363992"/>
        <display
                 value="Ichthyosis-short stature-brachydactyly-microspherophakia syndrome"/>
      </concept>
      <concept>
        <code value="363999"/>
        <display value="Non-immune hydrops fetalis"/>
      </concept>
      <concept>
        <code value="364013"/>
        <display value="Immune hydrops fetalis"/>
      </concept>
      <concept>
        <code value="364028"/>
        <display
                 value="X-linked intellectual disability due to GRIA3 mutations"/>
      </concept>
      <concept>
        <code value="364033"/>
        <display
                 value="Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood"/>
      </concept>
      <concept>
        <code value="364039"/>
        <display value="Hydroa vacciniforme-like lymphoma"/>
      </concept>
      <concept>
        <code value="364043"/>
        <display value="ALK-positive large B-cell lymphoma"/>
      </concept>
      <concept>
        <code value="364055"/>
        <display value="Severe early-childhood-onset retinal dystrophy"/>
      </concept>
      <concept>
        <code value="364063"/>
        <display value="Infantile epileptic-dyskinetic encephalopathy"/>
      </concept>
      <concept>
        <code value="364198"/>
        <display value="Bipartite talus"/>
      </concept>
      <concept>
        <code value="364577"/>
        <display
                 value="Intellectual disability-brachydactyly-Pierre Robin syndrome"/>
      </concept>
      <concept>
        <code value="369837"/>
        <display
                 value="Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome"/>
      </concept>
      <concept>
        <code value="369840"/>
        <display value="TRAPPC11-related limb-girdle muscular dystrophy R18"/>
      </concept>
      <concept>
        <code value="369847"/>
        <display
                 value="Intellectual disability-hyperkinetic movement-truncal ataxia syndrome"/>
      </concept>
      <concept>
        <code value="369852"/>
        <display
                 value="Congenital neutropenia-myelofibrosis-nephromegaly syndrome"/>
      </concept>
      <concept>
        <code value="369861"/>
        <display
                 value="Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="369867"/>
        <display
                 value="Autosomal recessive intermediate Charcot-Marie-Tooth disease type C"/>
      </concept>
      <concept>
        <code value="369873"/>
        <display value="Obesity due to SIM1 deficiency"/>
      </concept>
      <concept>
        <code value="369881"/>
        <display value="2p21 microdeletion syndrome without cystinuria"/>
      </concept>
      <concept>
        <code value="369891"/>
        <display
                 value="Developmental delay-facial dysmorphism syndrome due to MED13L deficiency"/>
      </concept>
      <concept>
        <code value="369897"/>
        <display
                 value="Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"/>
      </concept>
      <concept>
        <code value="369913"/>
        <display value="Combined oxidative phosphorylation defect type 17"/>
      </concept>
      <concept>
        <code value="369920"/>
        <display value="Pontocerebellar hypoplasia type 9"/>
      </concept>
      <concept>
        <code value="369929"/>
        <display
                 value="Primary hyperaldosteronism-seizures-neurological abnormalities syndrome"/>
      </concept>
      <concept>
        <code value="369939"/>
        <display
                 value="Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"/>
      </concept>
      <concept>
        <code value="369942"/>
        <display value="CADDS"/>
      </concept>
      <concept>
        <code value="369950"/>
        <display
                 value="Intellectual disability-seizures-macrocephaly-obesity syndrome"/>
      </concept>
      <concept>
        <code value="369955"/>
        <display
                 value="Methylmalonic acidemia with homocystinuria, type cblJ"/>
      </concept>
      <concept>
        <code value="369962"/>
        <display
                 value="Methylmalonic acidemia with homocystinuria, type cblX"/>
      </concept>
      <concept>
        <code value="369970"/>
        <display
                 value="Microcornea-myopic chorioretinal atrophy-telecanthus syndrome"/>
      </concept>
      <concept>
        <code value="369979"/>
        <display
                 value="Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome"/>
      </concept>
      <concept>
        <code value="369992"/>
        <display
                 value="Severe dermatitis-multiple allergies-metabolic wasting syndrome"/>
      </concept>
      <concept>
        <code value="369999"/>
        <display
                 value="Diffuse palmoplantar keratoderma with painful fissures"/>
      </concept>
      <concept>
        <code value="370002"/>
        <display value="Focal palmoplantar keratoderma with joint keratoses"/>
      </concept>
      <concept>
        <code value="370010"/>
        <display
                 value="Intellectual disability-facial dysmorphism-hand anomalies syndrome"/>
      </concept>
      <concept>
        <code value="370015"/>
        <display
                 value="Spondyloepimetaphyseal dysplasia, Isidor-Toutain type"/>
      </concept>
      <concept>
        <code value="370022"/>
        <display
                 value="Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome"/>
      </concept>
      <concept>
        <code value="370026"/>
        <display
                 value="Acute myeloid leukemia with t(8;16)(p11;p13) translocation"/>
      </concept>
      <concept>
        <code value="370034"/>
        <display value="Familial syringomyelia"/>
      </concept>
      <concept>
        <code value="370039"/>
        <display value="Angora hair nevus"/>
      </concept>
      <concept>
        <code value="370046"/>
        <display value="Didymosis aplasticosebacea"/>
      </concept>
      <concept>
        <code value="370052"/>
        <display value="SCALP syndrome"/>
      </concept>
      <concept>
        <code value="370059"/>
        <display value="NEVADA syndrome"/>
      </concept>
      <concept>
        <code value="370076"/>
        <display value="Fetal carbamazepine syndrome"/>
      </concept>
      <concept>
        <code value="370079"/>
        <display value="Proximal 16p11.2 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="370088"/>
        <display
                 value="Acute infantile liver failure-multisystemic involvement syndrome"/>
      </concept>
      <concept>
        <code value="370091"/>
        <display value="Oculocutaneous albinism type 5"/>
      </concept>
      <concept>
        <code value="370097"/>
        <display value="Oculocutaneous albinism type 6"/>
      </concept>
      <concept>
        <code value="370103"/>
        <display value="Primary dystonia, DYT17 type"/>
      </concept>
      <concept>
        <code value="370109"/>
        <display value="Ataxia-telangiectasia variant"/>
      </concept>
      <concept>
        <code value="370127"/>
        <display value="Medich giant platelet syndrome"/>
      </concept>
      <concept>
        <code value="370131"/>
        <display value="White platelet syndrome"/>
      </concept>
      <concept>
        <code value="370334"/>
        <display value="Extraskeletal Ewing sarcoma"/>
      </concept>
      <concept>
        <code value="370348"/>
        <display value="Peripheral primitive neuroectodermal tumor"/>
      </concept>
      <concept>
        <code value="370396"/>
        <display value="Small cell carcinoma of the ovary"/>
      </concept>
      <concept>
        <code value="370921"/>
        <display value="STT3A-CDG"/>
      </concept>
      <concept>
        <code value="370924"/>
        <display value="STT3B-CDG"/>
      </concept>
      <concept>
        <code value="370927"/>
        <display value="SSR4-CDG"/>
      </concept>
      <concept>
        <code value="370930"/>
        <display value="XYLT1-CDG"/>
      </concept>
      <concept>
        <code value="370933"/>
        <display value="GM3 synthase deficiency"/>
      </concept>
      <concept>
        <code value="370943"/>
        <display
                 value="Autism spectrum disorder-epilepsy-arthrogryposis syndrome"/>
      </concept>
      <concept>
        <code value="370959"/>
        <display
                 value="Congenital muscular dystrophy with cerebellar involvement"/>
      </concept>
      <concept>
        <code value="370968"/>
        <display
                 value="Congenital muscular dystrophy with intellectual disability"/>
      </concept>
      <concept>
        <code value="370980"/>
        <display
                 value="Congenital muscular dystrophy without intellectual disability"/>
      </concept>
      <concept>
        <code value="370997"/>
        <display
                 value="Muscle-eye-brain disease with bilateral multicystic leucodystrophy"/>
      </concept>
      <concept>
        <code value="371007"/>
        <display value="Congenital muscular dystrophy with hyperlaxity"/>
      </concept>
      <concept>
        <code value="371364"/>
        <display
                 value="Hypotonia-speech impairment-severe cognitive delay syndrome"/>
      </concept>
      <concept>
        <code value="371428"/>
        <display
                 value="Multicentric osteolysis-nodulosis-arthropathy spectrum"/>
      </concept>
      <concept>
        <code value="391307"/>
        <display
                 value="Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="391311"/>
        <display
                 value="Susceptibility to viral and mycobacterial infections due to STAT1 deficiency"/>
      </concept>
      <concept>
        <code value="391316"/>
        <display
                 value="Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression"/>
      </concept>
      <concept>
        <code value="391320"/>
        <display value="East Texas bleeding disorder"/>
      </concept>
      <concept>
        <code value="391327"/>
        <display value="X-linked calvarial hyperostosis"/>
      </concept>
      <concept>
        <code value="391330"/>
        <display value="X-linked osteoporosis with fractures"/>
      </concept>
      <concept>
        <code value="391343"/>
        <display value="Fatal post-viral neurodegenerative disorder"/>
      </concept>
      <concept>
        <code value="391348"/>
        <display
                 value="Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"/>
      </concept>
      <concept>
        <code value="391351"/>
        <display value="SURF1-related Charcot-Marie-Tooth disease type 4"/>
      </concept>
      <concept>
        <code value="391366"/>
        <display
                 value="Growth retardation-mild developmental delay-chronic hepatitis syndrome"/>
      </concept>
      <concept>
        <code value="391372"/>
        <display value="FOXP1 Syndrome"/>
      </concept>
      <concept>
        <code value="391376"/>
        <display
                 value="Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome"/>
      </concept>
      <concept>
        <code value="391384"/>
        <display value="Familial episodic pain syndrome"/>
      </concept>
      <concept>
        <code value="391389"/>
        <display
                 value="Familial episodic pain syndrome with predominantly upper body involvement"/>
      </concept>
      <concept>
        <code value="391392"/>
        <display
                 value="Familial episodic pain syndrome with predominantly lower limb involvement"/>
      </concept>
      <concept>
        <code value="391397"/>
        <display value="Hereditary sensory and autonomic neuropathy type 7"/>
      </concept>
      <concept>
        <code value="391408"/>
        <display
                 value="Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome"/>
      </concept>
      <concept>
        <code value="391411"/>
        <display value="Atypical juvenile parkinsonism"/>
      </concept>
      <concept>
        <code value="391417"/>
        <display value="HSD10 disease"/>
      </concept>
      <concept>
        <code value="391428"/>
        <display value="HSD10 disease, infantile type"/>
      </concept>
      <concept>
        <code value="391457"/>
        <display value="HSD10 disease, neonatal type"/>
      </concept>
      <concept>
        <code value="391474"/>
        <display value="Frontorhiny"/>
      </concept>
      <concept>
        <code value="391487"/>
        <display
                 value="STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome"/>
      </concept>
      <concept>
        <code value="391490"/>
        <display value="Adult-onset myasthenia gravis"/>
      </concept>
      <concept>
        <code value="391497"/>
        <display value="Juvenile myasthenia gravis"/>
      </concept>
      <concept>
        <code value="391504"/>
        <display value="Transient neonatal myasthenia gravis"/>
      </concept>
      <concept>
        <code value="391641"/>
        <display value="Feingold syndrome type 1"/>
      </concept>
      <concept>
        <code value="391646"/>
        <display value="Feingold syndrome type 2"/>
      </concept>
      <concept>
        <code value="391651"/>
        <display value="Glomus tumor"/>
      </concept>
      <concept>
        <code value="391655"/>
        <display
                 value="Off-periods in Parkinson disease not responding to oral treatment"/>
      </concept>
      <concept>
        <code value="391665"/>
        <display value="Homozygous familial hypercholesterolemia"/>
      </concept>
      <concept>
        <code value="391673"/>
        <display value="Necrotizing enterocolitis"/>
      </concept>
      <concept>
        <code value="391677"/>
        <display
                 value="Short stature-optic atrophy-Pelger-Huët anomaly syndrome"/>
      </concept>
      <concept>
        <code value="391723"/>
        <display value="Mucinous adenocarcinoma of the appendix"/>
      </concept>
      <concept>
        <code value="394529"/>
        <display
                 value="Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type"/>
      </concept>
      <concept>
        <code value="394532"/>
        <display
                 value="Multiple acyl-CoA dehydrogenase deficiency, mild type"/>
      </concept>
      <concept>
        <code value="397587"/>
        <display value="Deep dermatophytosis"/>
      </concept>
      <concept>
        <code value="397590"/>
        <display value="Silver-Russell syndrome due to a point mutation"/>
      </concept>
      <concept>
        <code value="397593"/>
        <display
                 value="Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"/>
      </concept>
      <concept>
        <code value="397596"/>
        <display value="Activated PI3K-delta syndrome"/>
      </concept>
      <concept>
        <code value="397606"/>
        <display value="PrP systemic amyloidosis"/>
      </concept>
      <concept>
        <code value="397612"/>
        <display value="Macrocephaly-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="397615"/>
        <display value="Obesity due to CEP19 deficiency"/>
      </concept>
      <concept>
        <code value="397618"/>
        <display
                 value="Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome"/>
      </concept>
      <concept>
        <code value="397623"/>
        <display
                 value="Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome"/>
      </concept>
      <concept>
        <code value="397685"/>
        <display value="Familial hyperprolactinemia"/>
      </concept>
      <concept>
        <code value="397692"/>
        <display value="Hereditary isolated aplastic anemia"/>
      </concept>
      <concept>
        <code value="397695"/>
        <display value="3q27.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="397709"/>
        <display
                 value="Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome"/>
      </concept>
      <concept>
        <code value="397715"/>
        <display
                 value="Joubert syndrome with Jeune asphyxiating thoracic dystrophy"/>
      </concept>
      <concept>
        <code value="397725"/>
        <display value="COASY protein-associated neurodegeneration"/>
      </concept>
      <concept>
        <code value="397735"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2U"/>
      </concept>
      <concept>
        <code value="397744"/>
        <display
                 value="Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome"/>
      </concept>
      <concept>
        <code value="397750"/>
        <display
                 value="Periodic paralysis with later-onset distal motor neuropathy"/>
      </concept>
      <concept>
        <code value="397755"/>
        <display
                 value="Periodic paralysis with transient compartment-like syndrome"/>
      </concept>
      <concept>
        <code value="397758"/>
        <display
                 value="Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies"/>
      </concept>
      <concept>
        <code value="397787"/>
        <display
                 value="Severe combined immunodeficiency due to IKK2 deficiency"/>
      </concept>
      <concept>
        <code value="397922"/>
        <display value="Ferro-cerebro-cutaneous syndrome"/>
      </concept>
      <concept>
        <code value="397927"/>
        <display
                 value="Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome"/>
      </concept>
      <concept>
        <code value="397933"/>
        <display
                 value="Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome"/>
      </concept>
      <concept>
        <code value="397937"/>
        <display value="Polyglucosan body myopathy type 1"/>
      </concept>
      <concept>
        <code value="397941"/>
        <display value="MAN1B1-CDG"/>
      </concept>
      <concept>
        <code value="397946"/>
        <display value="Autosomal spastic paraplegia type 58"/>
      </concept>
      <concept>
        <code value="397951"/>
        <display
                 value="Microcephaly-thin corpus callosum-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="397959"/>
        <display value="TCR-alpha-beta-positive T-cell deficiency"/>
      </concept>
      <concept>
        <code value="397964"/>
        <display value="Combined immunodeficiency due to MALT1 deficiency"/>
      </concept>
      <concept>
        <code value="397968"/>
        <display value="Charcot-Marie-Tooth disease type 2R"/>
      </concept>
      <concept>
        <code value="397973"/>
        <display
                 value="Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome"/>
      </concept>
      <concept>
        <code value="398053"/>
        <display value="Adenocarcinoma of the penis"/>
      </concept>
      <concept>
        <code value="398058"/>
        <display value="Squamous cell carcinoma of the penis"/>
      </concept>
      <concept>
        <code value="398063"/>
        <display value="Refractory celiac disease"/>
      </concept>
      <concept>
        <code value="398069"/>
        <display value="MAGEL2-related Prader-Willi-like syndrome"/>
      </concept>
      <concept>
        <code value="398079"/>
        <display value="SIM1-related Prader-Willi-like syndrome"/>
      </concept>
      <concept>
        <code value="398088"/>
        <display value="Hereditary cryohydrocytosis with normal stomatin"/>
      </concept>
      <concept>
        <code value="398097"/>
        <display value="Neonatal antiphospholipid syndrome"/>
      </concept>
      <concept>
        <code value="398109"/>
        <display value="Neonatal autoimmune hemolytic anemia"/>
      </concept>
      <concept>
        <code value="398117"/>
        <display value="Neonatal dermatomyositis"/>
      </concept>
      <concept>
        <code value="398124"/>
        <display value="Neonatal lupus erythematosus"/>
      </concept>
      <concept>
        <code value="398127"/>
        <display value="Neonatal scleroderma"/>
      </concept>
      <concept>
        <code value="398147"/>
        <display value="Persistent idiopathic facial pain"/>
      </concept>
      <concept>
        <code value="398156"/>
        <display value="Oculoauriculofrontonasal syndrome"/>
      </concept>
      <concept>
        <code value="398166"/>
        <display value="Focal facial dermal dysplasia"/>
      </concept>
      <concept>
        <code value="398173"/>
        <display value="Focal facial dermal dysplasia type II"/>
      </concept>
      <concept>
        <code value="398189"/>
        <display value="Focal facial dermal dysplasia type IV"/>
      </concept>
      <concept>
        <code value="398961"/>
        <display value="Mucinous adenocarcinoma of ovary"/>
      </concept>
      <concept>
        <code value="398971"/>
        <display value="Clear cell adenocarcinoma of the ovary"/>
      </concept>
      <concept>
        <code value="398987"/>
        <display value="Malignant teratoma of ovary"/>
      </concept>
      <concept>
        <code value="399058"/>
        <display value="Alpha-B crystallin-related late-onset myopathy"/>
      </concept>
      <concept>
        <code value="399081"/>
        <display value="KLHL9-related early-onset distal myopathy"/>
      </concept>
      <concept>
        <code value="399086"/>
        <display value="Finnish upper limb-onset distal myopathy"/>
      </concept>
      <concept>
        <code value="399096"/>
        <display value="Distal anoctaminopathy"/>
      </concept>
      <concept>
        <code value="399103"/>
        <display value="Distal nebulin myopathy"/>
      </concept>
      <concept>
        <code value="399175"/>
        <display value="Traumatic avascular necrosis"/>
      </concept>
      <concept>
        <code value="399180"/>
        <display value="Secondary non-traumatic avascular necrosis"/>
      </concept>
      <concept>
        <code value="399293"/>
        <display value="Osteonecrosis of the jaw"/>
      </concept>
      <concept>
        <code value="399307"/>
        <display value="Idiopathic avascular necrosis"/>
      </concept>
      <concept>
        <code value="399329"/>
        <display value="Epiphysiolysis of the hip"/>
      </concept>
      <concept>
        <code value="399805"/>
        <display
                 value="Male infertility with azoospermia or oligozoospermia due to single gene mutation"/>
      </concept>
      <concept>
        <code value="399808"/>
        <display
                 value="Male infertility with teratozoospermia due to single gene mutation"/>
      </concept>
      <concept>
        <code value="401764"/>
        <display value="Pancytopenia-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="401768"/>
        <display value="Proximal myopathy with extrapyramidal signs"/>
      </concept>
      <concept>
        <code value="401777"/>
        <display value="Optic atrophy-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="401780"/>
        <display value="Autosomal recessive spastic paraplegia type 61"/>
      </concept>
      <concept>
        <code value="401785"/>
        <display value="Autosomal recessive spastic paraplegia type 62"/>
      </concept>
      <concept>
        <code value="401795"/>
        <display value="Autosomal recessive spastic paraplegia type 59"/>
      </concept>
      <concept>
        <code value="401800"/>
        <display value="Autosomal recessive spastic paraplegia type 60"/>
      </concept>
      <concept>
        <code value="401805"/>
        <display value="Autosomal recessive spastic paraplegia type 63"/>
      </concept>
      <concept>
        <code value="401810"/>
        <display value="Autosomal recessive spastic paraplegia type 64"/>
      </concept>
      <concept>
        <code value="401815"/>
        <display value="Autosomal recessive spastic paraplegia type 66"/>
      </concept>
      <concept>
        <code value="401820"/>
        <display value="Autosomal recessive spastic paraplegia type 67"/>
      </concept>
      <concept>
        <code value="401830"/>
        <display value="Autosomal recessive spastic paraplegia type 69"/>
      </concept>
      <concept>
        <code value="401835"/>
        <display value="Autosomal recessive spastic paraplegia type 70"/>
      </concept>
      <concept>
        <code value="401840"/>
        <display value="Autosomal recessive spastic paraplegia type 71"/>
      </concept>
      <concept>
        <code value="401849"/>
        <display value="Autosomal spastic paraplegia type 72"/>
      </concept>
      <concept>
        <code value="401859"/>
        <display value="Lipoic acid synthetase deficiency"/>
      </concept>
      <concept>
        <code value="401862"/>
        <display value="Lipoyl transferase 1 deficiency"/>
      </concept>
      <concept>
        <code value="401866"/>
        <display value="Childhood-onset spasticity with hyperglycinemia"/>
      </concept>
      <concept>
        <code value="401869"/>
        <display value="Multiple mitochondrial dysfunctions syndrome type 1"/>
      </concept>
      <concept>
        <code value="401874"/>
        <display value="Multiple mitochondrial dysfunctions syndrome type 2"/>
      </concept>
      <concept>
        <code value="401901"/>
        <display
                 value="Huntington disease-like syndrome due to C9ORF72 expansions"/>
      </concept>
      <concept>
        <code value="401911"/>
        <display
                 value="AXIN2-related attenuated familial adenomatous polyposis"/>
      </concept>
      <concept>
        <code value="401920"/>
        <display value="Fibrolamellar hepatocellular carcinoma"/>
      </concept>
      <concept>
        <code value="401923"/>
        <display value="9q31.1q31.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="401935"/>
        <display value="14q24.1q24.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="401942"/>
        <display value="Familial median cleft of the upper and lower lips"/>
      </concept>
      <concept>
        <code value="401945"/>
        <display value="Moyamoya disease with early-onset achalasia"/>
      </concept>
      <concept>
        <code value="401948"/>
        <display
                 value="Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"/>
      </concept>
      <concept>
        <code value="401953"/>
        <display value="Episodic ataxia with slurred speech"/>
      </concept>
      <concept>
        <code value="401959"/>
        <display
                 value="Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome"/>
      </concept>
      <concept>
        <code value="401964"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons"/>
      </concept>
      <concept>
        <code value="401973"/>
        <display value="MEND syndrome"/>
      </concept>
      <concept>
        <code value="401979"/>
        <display
                 value="Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type"/>
      </concept>
      <concept>
        <code value="401986"/>
        <display value="1p31p32 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="401996"/>
        <display value="Karyomegalic interstitial nephritis"/>
      </concept>
      <concept>
        <code value="402003"/>
        <display
                 value="Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering"/>
      </concept>
      <concept>
        <code value="402014"/>
        <display value="Acute myeloid leukemia with t(6;9)(p23;q34)"/>
      </concept>
      <concept>
        <code value="402017"/>
        <display value="Acute myeloid leukemia with t(9;11)(p22;q23)"/>
      </concept>
      <concept>
        <code value="402020"/>
        <display
                 value="Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)"/>
      </concept>
      <concept>
        <code value="402023"/>
        <display
                 value="Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)"/>
      </concept>
      <concept>
        <code value="402026"/>
        <display value="Acute myeloid leukemia with NPM1 somatic mutations"/>
      </concept>
      <concept>
        <code value="402035"/>
        <display value="Eosinophilic colitis"/>
      </concept>
      <concept>
        <code value="402041"/>
        <display value="Autosomal recessive distal renal tubular acidosis"/>
      </concept>
      <concept>
        <code value="402075"/>
        <display value="Familial bicuspid aortic valve"/>
      </concept>
      <concept>
        <code value="402082"/>
        <display value="Progressive myoclonic epilepsy type 5"/>
      </concept>
      <concept>
        <code value="402364"/>
        <display
                 value="Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"/>
      </concept>
      <concept>
        <code value="402823"/>
        <display value="Hepatitis delta"/>
      </concept>
      <concept>
        <code value="404437"/>
        <display
                 value="Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome"/>
      </concept>
      <concept>
        <code value="404440"/>
        <display
                 value="Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency"/>
      </concept>
      <concept>
        <code value="404443"/>
        <display value="Tatton-Brown-Rahman syndrome"/>
      </concept>
      <concept>
        <code value="404448"/>
        <display value="ADNP syndrome"/>
      </concept>
      <concept>
        <code value="404451"/>
        <display
                 value="FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome"/>
      </concept>
      <concept>
        <code value="404454"/>
        <display
                 value="Alacrimia-choreoathetosis-liver dysfunction syndrome"/>
      </concept>
      <concept>
        <code value="404463"/>
        <display value="Multisystemic smooth muscle dysfunction syndrome"/>
      </concept>
      <concept>
        <code value="404466"/>
        <display value="Female infertility due to zona pellucida defect"/>
      </concept>
      <concept>
        <code value="404473"/>
        <display
                 value="Severe intellectual disability-progressive spastic diplegia syndrome"/>
      </concept>
      <concept>
        <code value="404476"/>
        <display
                 value="Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome"/>
      </concept>
      <concept>
        <code value="404493"/>
        <display
                 value="Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency"/>
      </concept>
      <concept>
        <code value="404499"/>
        <display
                 value="Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency"/>
      </concept>
      <concept>
        <code value="404507"/>
        <display value="Chondromyxoid fibroma"/>
      </concept>
      <concept>
        <code value="404511"/>
        <display value="Clear cell papillary renal cell carcinoma"/>
      </concept>
      <concept>
        <code value="404514"/>
        <display
                 value="Acquired cystic disease-associated renal cell carcinoma"/>
      </concept>
      <concept>
        <code value="404521"/>
        <display
                 value="Spinal muscular atrophy with respiratory distress type 2"/>
      </concept>
      <concept>
        <code value="404546"/>
        <display value="DITRA"/>
      </concept>
      <concept>
        <code value="404553"/>
        <display value="Adenosine deaminase 2 deficiency"/>
      </concept>
      <concept>
        <code value="404560"/>
        <display value="Familial atypical multiple mole melanoma syndrome"/>
      </concept>
      <concept>
        <code value="411493"/>
        <display value="Pontocerebellar hypoplasia type 10"/>
      </concept>
      <concept>
        <code value="411501"/>
        <display value="Williams-Campbell syndrome"/>
      </concept>
      <concept>
        <code value="411511"/>
        <display value="Angelman syndrome due to a point mutation"/>
      </concept>
      <concept>
        <code value="411515"/>
        <display
                 value="Angelman syndrome due to imprinting defect in 15q11-q13"/>
      </concept>
      <concept>
        <code value="411527"/>
        <display value="Central retinal vein occlusion"/>
      </concept>
      <concept>
        <code value="411536"/>
        <display
                 value="Mild phosphoribosylpyrophosphate synthetase superactivity"/>
      </concept>
      <concept>
        <code value="411543"/>
        <display
                 value="Severe phosphoribosylpyrophosphate synthetase superactivity"/>
      </concept>
      <concept>
        <code value="411590"/>
        <display value="Wolfram-like syndrome"/>
      </concept>
      <concept>
        <code value="411593"/>
        <display value="Insulin autoimmune syndrome"/>
      </concept>
      <concept>
        <code value="411602"/>
        <display value="Hereditary late-onset Parkinson disease"/>
      </concept>
      <concept>
        <code value="411629"/>
        <display value="Infantile nephropathic cystinosis"/>
      </concept>
      <concept>
        <code value="411634"/>
        <display value="Juvenile nephropathic cystinosis"/>
      </concept>
      <concept>
        <code value="411641"/>
        <display value="Ocular cystinosis"/>
      </concept>
      <concept>
        <code value="411696"/>
        <display
                 value="Proton-pump inhibitor-responsive esophageal eosinophilia"/>
      </concept>
      <concept>
        <code value="411703"/>
        <display value="Pulmonary non-tuberculous mycobacterial infection"/>
      </concept>
      <concept>
        <code value="411709"/>
        <display value="Renal agenesis"/>
      </concept>
      <concept>
        <code value="411712"/>
        <display value="Maternal riboflavin deficiency"/>
      </concept>
      <concept>
        <code value="411777"/>
        <display value="Generalized eruptive keratoacanthoma"/>
      </concept>
      <concept>
        <code value="411788"/>
        <display value="Familial isolated trichomegaly"/>
      </concept>
      <concept>
        <code value="411986"/>
        <display
                 value="Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="412022"/>
        <display
                 value="Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome"/>
      </concept>
      <concept>
        <code value="412035"/>
        <display value="13q12.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="412057"/>
        <display
                 value="Autosomal recessive cerebellar ataxia due to STUB1 deficiency"/>
      </concept>
      <concept>
        <code value="412066"/>
        <display
                 value="PRKAR1B-related neurodegenerative dementia with intermediate filaments"/>
      </concept>
      <concept>
        <code value="412069"/>
        <display
                 value="AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="412181"/>
        <display
                 value="Epidermolysis bullosa simplex due to BP230 deficiency"/>
      </concept>
      <concept>
        <code value="412189"/>
        <display
                 value="Epidermolysis bullosa simplex due to exophilin 5 deficiency"/>
      </concept>
      <concept>
        <code value="412206"/>
        <display value="Primary failure of tooth eruption"/>
      </concept>
      <concept>
        <code value="412217"/>
        <display value="Dystonia-aphonia syndrome"/>
      </concept>
      <concept>
        <code value="418945"/>
        <display value="Carcinoma of esophagus, salivary gland type"/>
      </concept>
      <concept>
        <code value="418951"/>
        <display value="Undifferentiated carcinoma of esophagus"/>
      </concept>
      <concept>
        <code value="418959"/>
        <display value="Squamous cell carcinoma of the stomach"/>
      </concept>
      <concept>
        <code value="420179"/>
        <display value="Malan overgrowth syndrome"/>
      </concept>
      <concept>
        <code value="420259"/>
        <display value="Secondary pulmonary alveolar proteinosis"/>
      </concept>
      <concept>
        <code value="420402"/>
        <display value="Semicircular canal dehiscence syndrome"/>
      </concept>
      <concept>
        <code value="420429"/>
        <display
                 value="Glycogen storage disease due to acid maltase deficiency, late-onset"/>
      </concept>
      <concept>
        <code value="420485"/>
        <display
                 value="Cranio-cervical dystonia with laryngeal and upper-limb involvement"/>
      </concept>
      <concept>
        <code value="420492"/>
        <display value="Adult-onset cervical dystonia, DYT23 type"/>
      </concept>
      <concept>
        <code value="420556"/>
        <display value="Visual snow syndrome"/>
      </concept>
      <concept>
        <code value="420561"/>
        <display value="Temple-Baraitser syndrome"/>
      </concept>
      <concept>
        <code value="420566"/>
        <display value="Bleeding disorder due to CalDAG-GEFI deficiency"/>
      </concept>
      <concept>
        <code value="420573"/>
        <display
                 value="Severe combined immunodeficiency due to CTPS1 deficiency"/>
      </concept>
      <concept>
        <code value="420584"/>
        <display
                 value="Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="420611"/>
        <display value="Transient myeloproliferative syndrome"/>
      </concept>
      <concept>
        <code value="420686"/>
        <display value="Woolly hair-palmoplantar keratoderma syndrome"/>
      </concept>
      <concept>
        <code value="420699"/>
        <display
                 value="Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency"/>
      </concept>
      <concept>
        <code value="420702"/>
        <display
                 value="Autosomal recessive severe congenital neutropenia due to CSF3R deficiency"/>
      </concept>
      <concept>
        <code value="420728"/>
        <display value="Combined oxidative phosphorylation defect type 20"/>
      </concept>
      <concept>
        <code value="420733"/>
        <display value="Combined oxidative phosphorylation defect type 21"/>
      </concept>
      <concept>
        <code value="420741"/>
        <display value="RIDDLE syndrome"/>
      </concept>
      <concept>
        <code value="420789"/>
        <display
                 value="Autoimmune encephalopathy with parasomnia and obstructive sleep apnea"/>
      </concept>
      <concept>
        <code value="420794"/>
        <display value="Cono-spondylar dysplasia"/>
      </concept>
      <concept>
        <code value="422526"/>
        <display value="Hereditary clear cell renal cell carcinoma"/>
      </concept>
      <concept>
        <code value="423275"/>
        <display value="Spinocerebellar ataxia type 40"/>
      </concept>
      <concept>
        <code value="423296"/>
        <display value="Spinocerebellar ataxia type 38"/>
      </concept>
      <concept>
        <code value="423306"/>
        <display
                 value="Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="423384"/>
        <display
                 value="Severe congenital neutropenia due to JAGN1 deficiency"/>
      </concept>
      <concept>
        <code value="423454"/>
        <display
                 value="Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"/>
      </concept>
      <concept>
        <code value="423461"/>
        <display value="Mucolipidosis type III alpha/beta"/>
      </concept>
      <concept>
        <code value="423470"/>
        <display value="Mucolipidosis type III gamma"/>
      </concept>
      <concept>
        <code value="423479"/>
        <display
                 value="X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency"/>
      </concept>
      <concept>
        <code value="423693"/>
        <display
                 value="Double outlet right ventricle with subaortic or doubly committed ventricular septal defect"/>
      </concept>
      <concept>
        <code value="423712"/>
        <display
                 value="Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy"/>
      </concept>
      <concept>
        <code value="423717"/>
        <display value="Cutaneous larva migrans"/>
      </concept>
      <concept>
        <code value="423786"/>
        <display value="Undifferentiated carcinoma of stomach"/>
      </concept>
      <concept>
        <code value="423894"/>
        <display
                 value="Microcephaly-complex motor and sensory axonal neuropathy syndrome"/>
      </concept>
      <concept>
        <code value="423968"/>
        <display value="Squamous cell carcinoma of the small intestine"/>
      </concept>
      <concept>
        <code value="423994"/>
        <display value="Squamous cell carcinoma of the colon"/>
      </concept>
      <concept>
        <code value="424002"/>
        <display value="Squamous cell carcinoma of the rectum"/>
      </concept>
      <concept>
        <code value="424016"/>
        <display value="Adenocarcinoma of the anal canal"/>
      </concept>
      <concept>
        <code value="424019"/>
        <display value="Squamous cell carcinoma of the anal canal"/>
      </concept>
      <concept>
        <code value="424027"/>
        <display value="Progressive myoclonic epilepsy type 8"/>
      </concept>
      <concept>
        <code value="424039"/>
        <display value="Squamous cell carcinoma of pancreas"/>
      </concept>
      <concept>
        <code value="424046"/>
        <display value="Acinar cell carcinoma of pancreas"/>
      </concept>
      <concept>
        <code value="424053"/>
        <display value="Mucinous cystadenocarcinoma of the pancreas"/>
      </concept>
      <concept>
        <code value="424058"/>
        <display
                 value="Intraductal papillary mucinous carcinoma of pancreas"/>
      </concept>
      <concept>
        <code value="424065"/>
        <display value="Solid pseudopapillary carcinoma of pancreas"/>
      </concept>
      <concept>
        <code value="424073"/>
        <display value="Serous cystadenocarcinoma of pancreas"/>
      </concept>
      <concept>
        <code value="424080"/>
        <display
                 value="Undifferentiated carcinoma with osteoclast-like giant cells of pancreas"/>
      </concept>
      <concept>
        <code value="424099"/>
        <display
                 value="Colobomatous microphthalmia-rhizomelic dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="424107"/>
        <display value="Congenital myopathy with myasthenic-like onset"/>
      </concept>
      <concept>
        <code value="424261"/>
        <display value="TOR1AIP1-related limb-girdle muscular dystrophy"/>
      </concept>
      <concept>
        <code value="424943"/>
        <display
                 value="Adenocarcinoma of the liver and intrahepatic biliary tract"/>
      </concept>
      <concept>
        <code value="424970"/>
        <display
                 value="Undifferentiated carcinoma of liver and intrahepatic biliary tract"/>
      </concept>
      <concept>
        <code value="424975"/>
        <display
                 value="Squamous cell carcinoma of liver and intrahepatic biliary tract"/>
      </concept>
      <concept>
        <code value="424982"/>
        <display value="Biliary cystadenocarcinoma"/>
      </concept>
      <concept>
        <code value="424991"/>
        <display
                 value="Adenocarcinoma of the gallbladder and extrahepatic biliary tract"/>
      </concept>
      <concept>
        <code value="424996"/>
        <display
                 value="Squamous cell carcinoma of gallbladder and extrahepatic biliary tract"/>
      </concept>
      <concept>
        <code value="425120"/>
        <display value="STING-associated vasculopathy with onset in infancy"/>
      </concept>
      <concept>
        <code value="431140"/>
        <display
                 value="X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome"/>
      </concept>
      <concept>
        <code value="431149"/>
        <display value="Combined immunodeficiency due to OX40 deficiency"/>
      </concept>
      <concept>
        <code value="431166"/>
        <display
                 value="Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection"/>
      </concept>
      <concept>
        <code value="431255"/>
        <display value="Scapuloperoneal spinal muscular atrophy"/>
      </concept>
      <concept>
        <code value="431272"/>
        <display value="X-linked scapuloperoneal muscular dystrophy"/>
      </concept>
      <concept>
        <code value="431329"/>
        <display value="Autosomal recessive spastic paraplegia type 57"/>
      </concept>
      <concept>
        <code value="431341"/>
        <display value="Patent urachus"/>
      </concept>
      <concept>
        <code value="431344"/>
        <display value="Urachal sinus"/>
      </concept>
      <concept>
        <code value="431347"/>
        <display value="Urachal diverticulum"/>
      </concept>
      <concept>
        <code value="431361"/>
        <display
                 value="Progressive encephalopathy with leukodystrophy due to DECR deficiency"/>
      </concept>
      <concept>
        <code value="434179"/>
        <display value="Orofaciodigital syndrome type 14"/>
      </concept>
      <concept>
        <code value="435329"/>
        <display value="Familial ossifying fibroma"/>
      </concept>
      <concept>
        <code value="435372"/>
        <display value="Anterior urethral valve"/>
      </concept>
      <concept>
        <code value="435387"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2Y"/>
      </concept>
      <concept>
        <code value="435438"/>
        <display value="Progressive myoclonic epilepsy type 7"/>
      </concept>
      <concept>
        <code value="435628"/>
        <display value="Keppen-Lubinsky syndrome"/>
      </concept>
      <concept>
        <code value="435638"/>
        <display value="3p25.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="435651"/>
        <display value="CIDEC-related familial partial lipodystrophy"/>
      </concept>
      <concept>
        <code value="435660"/>
        <display value="LIPE-related familial partial lipodystrophy"/>
      </concept>
      <concept>
        <code value="435804"/>
        <display
                 value="Short stature-advanced bone age-early-onset osteoarthritis syndrome"/>
      </concept>
      <concept>
        <code value="435819"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation"/>
      </concept>
      <concept>
        <code value="435845"/>
        <display
                 value="Lethal neonatal spasticity-epileptic encephalopathy syndrome"/>
      </concept>
      <concept>
        <code value="435930"/>
        <display
                 value="Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"/>
      </concept>
      <concept>
        <code value="435934"/>
        <display value="COG2-CDG"/>
      </concept>
      <concept>
        <code value="435938"/>
        <display
                 value="X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome"/>
      </concept>
      <concept>
        <code value="435953"/>
        <display
                 value="Progeroid features-hepatocellular carcinoma predisposition syndrome"/>
      </concept>
      <concept>
        <code value="435988"/>
        <display value="Chronic atrial and intestinal dysrhythmia syndrome"/>
      </concept>
      <concept>
        <code value="435998"/>
        <display
                 value="Autosomal recessive intermediate Charcot-Marie-Tooth disease type D"/>
      </concept>
      <concept>
        <code value="436003"/>
        <display
                 value="Contractures-developmental delay-Pierre Robin syndrome"/>
      </concept>
      <concept>
        <code value="436141"/>
        <display value="HIDEA syndrome"/>
      </concept>
      <concept>
        <code value="436144"/>
        <display
                 value="Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome"/>
      </concept>
      <concept>
        <code value="436151"/>
        <display
                 value="Intellectual disability-expressive aphasia-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="436159"/>
        <display
                 value="Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency"/>
      </concept>
      <concept>
        <code value="436166"/>
        <display
                 value="Periodic fever-infantile enterocolitis-autoinflammatory syndrome"/>
      </concept>
      <concept>
        <code value="436169"/>
        <display value="Thrombomodulin-related bleeding disorder"/>
      </concept>
      <concept>
        <code value="436174"/>
        <display
                 value="Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="436182"/>
        <display
                 value="Microcephalic primordial dwarfism-insulin resistance syndrome"/>
      </concept>
      <concept>
        <code value="436242"/>
        <display
                 value="Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease"/>
      </concept>
      <concept>
        <code value="436245"/>
        <display
                 value="Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="436252"/>
        <display value="Combined immunodeficiency-enteropathy spectrum"/>
      </concept>
      <concept>
        <code value="436271"/>
        <display
                 value="Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy"/>
      </concept>
      <concept>
        <code value="436274"/>
        <display
                 value="Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa"/>
      </concept>
      <concept>
        <code value="437552"/>
        <display
                 value="Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity"/>
      </concept>
      <concept>
        <code value="438075"/>
        <display
                 value="Ketoacidosis due to monocarboxylate transporter-1 deficiency"/>
      </concept>
      <concept>
        <code value="438114"/>
        <display
                 value="RARS-related autosomal recessive hypomyelinating leukodystrophy"/>
      </concept>
      <concept>
        <code value="438117"/>
        <display value="Steel syndrome"/>
      </concept>
      <concept>
        <code value="438134"/>
        <display
                 value="PCNA-related progressive neurodegenerative photosensitivity syndrome"/>
      </concept>
      <concept>
        <code value="438159"/>
        <display
                 value="STAT3-related early-onset multisystem autoimmune disease"/>
      </concept>
      <concept>
        <code value="438178"/>
        <display value="Fatty acyl-CoA reductase 1 deficiency"/>
      </concept>
      <concept>
        <code value="438207"/>
        <display value="Severe autosomal recessive macrothrombocytopenia"/>
      </concept>
      <concept>
        <code value="438213"/>
        <display
                 value="PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome"/>
      </concept>
      <concept>
        <code value="438216"/>
        <display
                 value="PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation"/>
      </concept>
      <concept>
        <code value="438266"/>
        <display
                 value="Progressive encephalomyelitis with rigidity and myoclonus"/>
      </concept>
      <concept>
        <code value="438274"/>
        <display value="GCGR-related hyperglucagonemia"/>
      </concept>
      <concept>
        <code value="438279"/>
        <display value="Human infection by orthopoxvirus"/>
      </concept>
      <concept>
        <code value="439167"/>
        <display value="Placental insufficiency"/>
      </concept>
      <concept>
        <code value="439175"/>
        <display value="Pediatric arterial ischemic stroke"/>
      </concept>
      <concept>
        <code value="439196"/>
        <display value="Zinc-responsive necrolytic acral erythema"/>
      </concept>
      <concept>
        <code value="439202"/>
        <display value="Non-recovering obstetric brachial plexus lesion"/>
      </concept>
      <concept>
        <code value="439212"/>
        <display
                 value="Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome"/>
      </concept>
      <concept>
        <code value="439218"/>
        <display value="KCNQ2-related epileptic encephalopathy"/>
      </concept>
      <concept>
        <code value="439224"/>
        <display value="ALECT2 amyloidosis"/>
      </concept>
      <concept>
        <code value="439232"/>
        <display value="AApoAIV amyloidosis"/>
      </concept>
      <concept>
        <code value="439254"/>
        <display value="ITM2B amyloidosis"/>
      </concept>
      <concept>
        <code value="439729"/>
        <display value="Cutaneous polyarteritis nodosa"/>
      </concept>
      <concept>
        <code value="439737"/>
        <display value="Primary polyarteritis nodosa"/>
      </concept>
      <concept>
        <code value="439746"/>
        <display value="Secondary polyarteritis nodosa"/>
      </concept>
      <concept>
        <code value="439755"/>
        <display value="Single-organ polyarteritis nodosa"/>
      </concept>
      <concept>
        <code value="439762"/>
        <display value="Systemic polyarteritis nodosa"/>
      </concept>
      <concept>
        <code value="439822"/>
        <display value="PDE4D haploinsufficiency syndrome"/>
      </concept>
      <concept>
        <code value="439854"/>
        <display
                 value="Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease"/>
      </concept>
      <concept>
        <code value="439881"/>
        <display value="Plastic bronchitis"/>
      </concept>
      <concept>
        <code value="439897"/>
        <display
                 value="Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome"/>
      </concept>
      <concept>
        <code value="440221"/>
        <display value="Congenital oculomotor nerve palsy"/>
      </concept>
      <concept>
        <code value="440233"/>
        <display value="Congenital abducens nerve palsy"/>
      </concept>
      <concept>
        <code value="440354"/>
        <display
                 value="Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="440368"/>
        <display value="Necrotizing soft tissue infection"/>
      </concept>
      <concept>
        <code value="440392"/>
        <display value="Interstitial lung disease due to SP-C deficiency"/>
      </concept>
      <concept>
        <code value="440402"/>
        <display value="Interstitial lung disease due to ABCA3 deficiency"/>
      </concept>
      <concept>
        <code value="440427"/>
        <display
                 value="Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency"/>
      </concept>
      <concept>
        <code value="440437"/>
        <display value="Familial colorectal cancer Type X"/>
      </concept>
      <concept>
        <code value="440706"/>
        <display value="Ribose-5-P isomerase deficiency"/>
      </concept>
      <concept>
        <code value="440713"/>
        <display value="Isolated sedoheptulokinase deficiency"/>
      </concept>
      <concept>
        <code value="440724"/>
        <display value="Extensive peripapillary myelinated nerve fibers"/>
      </concept>
      <concept>
        <code value="440727"/>
        <display
                 value="Combined hamartoma of the retina and retinal pigment epithelium"/>
      </concept>
      <concept>
        <code value="440731"/>
        <display value="L-ferritin deficiency"/>
      </concept>
      <concept>
        <code value="440987"/>
        <display value="Isolated agenesis of gallbladder"/>
      </concept>
      <concept>
        <code value="441447"/>
        <display value="Early-onset posterior subcapsular cataract"/>
      </concept>
      <concept>
        <code value="441452"/>
        <display value="Early-onset lamellar cataract"/>
      </concept>
      <concept>
        <code value="442582"/>
        <display value="AH amyloidosis"/>
      </concept>
      <concept>
        <code value="442835"/>
        <display value="Non-specific early-onset epileptic encephalopathy"/>
      </concept>
      <concept>
        <code value="443057"/>
        <display value="Sporadic porphyria cutanea tarda"/>
      </concept>
      <concept>
        <code value="443062"/>
        <display value="Familial porphyria cutanea tarda"/>
      </concept>
      <concept>
        <code value="443070"/>
        <display value="Hemicrania continua"/>
      </concept>
      <concept>
        <code value="443073"/>
        <display value="Charcot-Marie-Tooth disease type 2S"/>
      </concept>
      <concept>
        <code value="443079"/>
        <display value="Central serous chorioretinopathy"/>
      </concept>
      <concept>
        <code value="443084"/>
        <display value="Baroreflex failure"/>
      </concept>
      <concept>
        <code value="443087"/>
        <display
                 value="46,XY difference of sex development due to testicular 17,20-desmolase deficiency"/>
      </concept>
      <concept>
        <code value="443098"/>
        <display value="Hyperostosis cranialis interna"/>
      </concept>
      <concept>
        <code value="443101"/>
        <display value="Hypothalamic adipsic hypernatraemia syndrome"/>
      </concept>
      <concept>
        <code value="443159"/>
        <display value="Lymphoplasmacytic lymphoma without IgM production"/>
      </concept>
      <concept>
        <code value="443162"/>
        <display value="NDE1-related microhydranencephaly"/>
      </concept>
      <concept>
        <code value="443167"/>
        <display value="NUT midline carcinoma"/>
      </concept>
      <concept>
        <code value="443173"/>
        <display value="Postpartum psychosis"/>
      </concept>
      <concept>
        <code value="443180"/>
        <display value="Spontaneous intracranial hypotension"/>
      </concept>
      <concept>
        <code value="443192"/>
        <display value="Classic stiff person syndrome"/>
      </concept>
      <concept>
        <code value="443197"/>
        <display value="X-linked erythropoietic protoporphyria"/>
      </concept>
      <concept>
        <code value="443227"/>
        <display value="Paratyphoid fever"/>
      </concept>
      <concept>
        <code value="443236"/>
        <display
                 value="Postural orthostatic tachycardia syndrome due to NET deficiency"/>
      </concept>
      <concept>
        <code value="443291"/>
        <display value="HIV-associated cancer"/>
      </concept>
      <concept>
        <code value="443804"/>
        <display value="Focal stiff limb syndrome"/>
      </concept>
      <concept>
        <code value="443811"/>
        <display value="PGM3-CDG"/>
      </concept>
      <concept>
        <code value="443950"/>
        <display value="DNAJB2-related Charcot-Marie-Tooth disease type 2"/>
      </concept>
      <concept>
        <code value="443988"/>
        <display value="Ventriculomegaly-cystic kidney disease"/>
      </concept>
      <concept>
        <code value="443995"/>
        <display value="Mandibulofacial dysostosis with alopecia"/>
      </concept>
      <concept>
        <code value="444002"/>
        <display value="11q22.2q22.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="444013"/>
        <display value="Combined oxidative phosphorylation defect type 23"/>
      </concept>
      <concept>
        <code value="444048"/>
        <display value="46,XX ovarian dysgenesis-short stature syndrome"/>
      </concept>
      <concept>
        <code value="444051"/>
        <display value="20q11.2 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="444069"/>
        <display
                 value="Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"/>
      </concept>
      <concept>
        <code value="444072"/>
        <display value="Cerebellar-facial-dental syndrome"/>
      </concept>
      <concept>
        <code value="444077"/>
        <display
                 value="Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="444092"/>
        <display
                 value="Autoimmune interstitial lung disease-arthritis syndrome"/>
      </concept>
      <concept>
        <code value="444099"/>
        <display value="Autosomal dominant spastic paraplegia type 73"/>
      </concept>
      <concept>
        <code value="444138"/>
        <display
                 value="Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome"/>
      </concept>
      <concept>
        <code value="444316"/>
        <display value="Idiopathic phalangeal acro-osteolysis"/>
      </concept>
      <concept>
        <code value="444458"/>
        <display value="Combined oxidative phosphorylation defect type 24"/>
      </concept>
      <concept>
        <code value="444463"/>
        <display
                 value="Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency"/>
      </concept>
      <concept>
        <code value="444490"/>
        <display value="Familial chylomicronemia syndrome"/>
      </concept>
      <concept>
        <code value="445018"/>
        <display value="Combined immunodeficiency due to LRBA deficiency"/>
      </concept>
      <concept>
        <code value="445038"/>
        <display
                 value="3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome"/>
      </concept>
      <concept>
        <code value="445062"/>
        <display
                 value="Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"/>
      </concept>
      <concept>
        <code value="445110"/>
        <display
                 value="Limb-girdle muscular dystrophy due to POMK deficiency"/>
      </concept>
      <concept>
        <code value="447731"/>
        <display value="NIK deficiency"/>
      </concept>
      <concept>
        <code value="447737"/>
        <display value="Combined immunodeficiency due to DOCK2 deficiency"/>
      </concept>
      <concept>
        <code value="447740"/>
        <display value="Susceptibility to localized juvenile periodontitis"/>
      </concept>
      <concept>
        <code value="447753"/>
        <display value="Autosomal dominant spastic paraplegia type 9A"/>
      </concept>
      <concept>
        <code value="447757"/>
        <display value="Autosomal dominant spastic paraplegia type 9B"/>
      </concept>
      <concept>
        <code value="447760"/>
        <display value="Autosomal recessive spastic paraplegia type 9B"/>
      </concept>
      <concept>
        <code value="447764"/>
        <display value="IgG4-related sclerosing cholangitis"/>
      </concept>
      <concept>
        <code value="447774"/>
        <display value="Secondary sclerosing cholangitis"/>
      </concept>
      <concept>
        <code value="447777"/>
        <display value="Keratocystic odontogenic tumor"/>
      </concept>
      <concept>
        <code value="447784"/>
        <display value="Mitochondrial pyruvate carrier deficiency"/>
      </concept>
      <concept>
        <code value="447788"/>
        <display value="Cerebral visual impairment"/>
      </concept>
      <concept>
        <code value="447795"/>
        <display value="Lipoyl transferase 2 deficiency"/>
      </concept>
      <concept>
        <code value="447877"/>
        <display
                 value="Polymerase proofreading-related adenomatous polyposis"/>
      </concept>
      <concept>
        <code value="447881"/>
        <display value="Idiopathic dropped head syndrome"/>
      </concept>
      <concept>
        <code value="447893"/>
        <display
                 value="Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome"/>
      </concept>
      <concept>
        <code value="447896"/>
        <display value="Tremor-ataxia-central hypomyelination syndrome"/>
      </concept>
      <concept>
        <code value="447954"/>
        <display value="Combined oxidative phosphorylation defect type 25"/>
      </concept>
      <concept>
        <code value="447961"/>
        <display
                 value="Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"/>
      </concept>
      <concept>
        <code value="447964"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2V"/>
      </concept>
      <concept>
        <code value="447974"/>
        <display
                 value="Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="447977"/>
        <display value="Progressive scapulohumeroperoneal distal myopathy"/>
      </concept>
      <concept>
        <code value="447980"/>
        <display value="19p13.3 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="447997"/>
        <display
                 value="Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"/>
      </concept>
      <concept>
        <code value="448010"/>
        <display value="CAD-CDG"/>
      </concept>
      <concept>
        <code value="448237"/>
        <display value="Zika virus disease"/>
      </concept>
      <concept>
        <code value="448242"/>
        <display value="Autosomal recessive brachyolmia"/>
      </concept>
      <concept>
        <code value="448251"/>
        <display
                 value="Progressive autosomal recessive ataxia-deafness syndrome"/>
      </concept>
      <concept>
        <code value="448264"/>
        <display
                 value="Isolated focal non-epidermolytic palmoplantar keratoderma"/>
      </concept>
      <concept>
        <code value="448267"/>
        <display value="Regressive spondylometaphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="448270"/>
        <display value="Ectopia cordis"/>
      </concept>
      <concept>
        <code value="449266"/>
        <display value="Pleural empyema"/>
      </concept>
      <concept>
        <code value="449280"/>
        <display value="Scedosporiosis"/>
      </concept>
      <concept>
        <code value="449285"/>
        <display value="Snakebite envenomation"/>
      </concept>
      <concept>
        <code value="449291"/>
        <display
                 value="Symptomatic form of fragile X syndrome in female carriers"/>
      </concept>
      <concept>
        <code value="449395"/>
        <display value="IgG4-related kidney disease"/>
      </concept>
      <concept>
        <code value="449400"/>
        <display value="IgG4-related aortitis"/>
      </concept>
      <concept>
        <code value="449427"/>
        <display value="IgG4-related pachymeningitis"/>
      </concept>
      <concept>
        <code value="449432"/>
        <display value="IgG4-related submandibular gland disease"/>
      </concept>
      <concept>
        <code value="449563"/>
        <display value="IgG4-related ophthalmic disease"/>
      </concept>
      <concept>
        <code value="449566"/>
        <display value="Eosinophilic angiocentric fibrosis"/>
      </concept>
      <concept>
        <code value="450322"/>
        <display value="Polyclonal hyperviscosity syndrome"/>
      </concept>
      <concept>
        <code value="451602"/>
        <display value="Primary cutaneous plasmacytosis"/>
      </concept>
      <concept>
        <code value="451607"/>
        <display value="Cutaneous pseudolymphoma"/>
      </concept>
      <concept>
        <code value="451612"/>
        <display value="Familial congenital nasolacrimal duct obstruction"/>
      </concept>
      <concept>
        <code value="453499"/>
        <display
                 value="Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome"/>
      </concept>
      <concept>
        <code value="453504"/>
        <display
                 value="Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation"/>
      </concept>
      <concept>
        <code value="453510"/>
        <display
                 value="Congenital insensitivity to pain with severe intellectual disability"/>
      </concept>
      <concept>
        <code value="453521"/>
        <display
                 value="Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency"/>
      </concept>
      <concept>
        <code value="453533"/>
        <display value="Polyendocrine-polyneuropathy syndrome"/>
      </concept>
      <concept>
        <code value="454706"/>
        <display value="Progressive muscular atrophy"/>
      </concept>
      <concept>
        <code value="454710"/>
        <display value="Anti-p200 pemphigoid"/>
      </concept>
      <concept>
        <code value="454714"/>
        <display value="Plasma cell leukemia"/>
      </concept>
      <concept>
        <code value="454718"/>
        <display value="Holmes-Adie syndrome"/>
      </concept>
      <concept>
        <code value="454723"/>
        <display value="Endometrioid carcinoma of ovary"/>
      </concept>
      <concept>
        <code value="454742"/>
        <display value="Variably protease-sensitive prionopathy"/>
      </concept>
      <concept>
        <code value="454745"/>
        <display value="Kuru"/>
      </concept>
      <concept>
        <code value="454750"/>
        <display value="Isolated tracheoesophageal fistula"/>
      </concept>
      <concept>
        <code value="454821"/>
        <display value="Pleomorphic salivary gland adenoma"/>
      </concept>
      <concept>
        <code value="454831"/>
        <display value="Acute radiation syndrome"/>
      </concept>
      <concept>
        <code value="454836"/>
        <display value="Avian influenza"/>
      </concept>
      <concept>
        <code value="454840"/>
        <display
                 value="NTHL1-related attenuated familial adenomatous polyposis"/>
      </concept>
      <concept>
        <code value="454887"/>
        <display value="Corticobasal syndrome"/>
      </concept>
      <concept>
        <code value="456298"/>
        <display value="1p35.2 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="456312"/>
        <display
                 value="Infantile multisystem neurologic-endocrine-pancreatic disease"/>
      </concept>
      <concept>
        <code value="456318"/>
        <display
                 value="Hereditary sensory neuropathy-deafness-dementia syndrome"/>
      </concept>
      <concept>
        <code value="456328"/>
        <display
                 value="X-linked myotubular myopathy-abnormal genitalia syndrome"/>
      </concept>
      <concept>
        <code value="456333"/>
        <display value="Hereditary neuroendocrine tumor of small intestine"/>
      </concept>
      <concept>
        <code value="456369"/>
        <display value="Polyglucosan body myopathy type 2"/>
      </concept>
      <concept>
        <code value="457050"/>
        <display
                 value="Autosomal dominant mitochondrial myopathy with exercise intolerance"/>
      </concept>
      <concept>
        <code value="457077"/>
        <display value="TAFRO syndrome"/>
      </concept>
      <concept>
        <code value="457083"/>
        <display value="Isolated splenogonadal fusion"/>
      </concept>
      <concept>
        <code value="457088"/>
        <display
                 value="Predisposition to invasive fungal disease due to CARD9 deficiency"/>
      </concept>
      <concept>
        <code value="457095"/>
        <display value="Actinomycosis"/>
      </concept>
      <concept>
        <code value="457185"/>
        <display
                 value="Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"/>
      </concept>
      <concept>
        <code value="457193"/>
        <display
                 value="Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"/>
      </concept>
      <concept>
        <code value="457205"/>
        <display
                 value="Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome"/>
      </concept>
      <concept>
        <code value="457212"/>
        <display
                 value="Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"/>
      </concept>
      <concept>
        <code value="457223"/>
        <display
                 value="Syndromic sensorineural deafness due to combined oxidative phosphorylation defect"/>
      </concept>
      <concept>
        <code value="457240"/>
        <display
                 value="X-linked intellectual disability-short stature-overweight syndrome"/>
      </concept>
      <concept>
        <code value="457246"/>
        <display value="Clear cell sarcoma of kidney"/>
      </concept>
      <concept>
        <code value="457260"/>
        <display
                 value="X-linked intellectual disability-hypotonia-movement disorder syndrome"/>
      </concept>
      <concept>
        <code value="457265"/>
        <display value="Progressive myoclonic epilepsy type 9"/>
      </concept>
      <concept>
        <code value="457279"/>
        <display
                 value="Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome"/>
      </concept>
      <concept>
        <code value="457284"/>
        <display
                 value="Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="457351"/>
        <display
                 value="Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome"/>
      </concept>
      <concept>
        <code value="457359"/>
        <display
                 value="Megalencephaly-severe kyphoscoliosis-overgrowth syndrome"/>
      </concept>
      <concept>
        <code value="457365"/>
        <display
                 value="Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="457375"/>
        <display
                 value="ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement"/>
      </concept>
      <concept>
        <code value="457378"/>
        <display value="Complex lethal osteochondrodysplasia"/>
      </concept>
      <concept>
        <code value="457395"/>
        <display
                 value="Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="457406"/>
        <display value="Multiple mitochondrial dysfunctions syndrome type 4"/>
      </concept>
      <concept>
        <code value="457485"/>
        <display
                 value="Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"/>
      </concept>
      <concept>
        <code value="458718"/>
        <display value="Idiopathic spontaneous coronary artery dissection"/>
      </concept>
      <concept>
        <code value="458758"/>
        <display value="Composite hemangioendothelioma"/>
      </concept>
      <concept>
        <code value="458763"/>
        <display value="Retiform hemangioendothelioma"/>
      </concept>
      <concept>
        <code value="458768"/>
        <display value="Papillary intralymphatic angioendothelioma"/>
      </concept>
      <concept>
        <code value="458785"/>
        <display value="Partially involuting congenital hemangioma"/>
      </concept>
      <concept>
        <code value="458792"/>
        <display value="Mixed cystic lymphatic malformation"/>
      </concept>
      <concept>
        <code value="458798"/>
        <display value="Spinocerebellar ataxia type 41"/>
      </concept>
      <concept>
        <code value="458803"/>
        <display value="Spinocerebellar ataxia type 42"/>
      </concept>
      <concept>
        <code value="459033"/>
        <display value="Ataxia-oculomotor apraxia type 4"/>
      </concept>
      <concept>
        <code value="459051"/>
        <display value="Spondyloepiphyseal dysplasia, Stanescu type"/>
      </concept>
      <concept>
        <code value="459056"/>
        <display value="Autosomal recessive spastic paraplegia type 75"/>
      </concept>
      <concept>
        <code value="459061"/>
        <display
                 value="Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="459070"/>
        <display
                 value="X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="459074"/>
        <display
                 value="Corpus callosum agenesis-macrocephaly-hypertelorism syndrome"/>
      </concept>
      <concept>
        <code value="464282"/>
        <display
                 value="Spastic paraplegia-severe developmental delay-epilepsy syndrome"/>
      </concept>
      <concept>
        <code value="464288"/>
        <display
                 value="Short stature-brachydactyly-obesity-global developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="464306"/>
        <display value="DYRK1A-related intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="464311"/>
        <display
                 value="Intellectual disability syndrome due to a DYRK1A point mutation"/>
      </concept>
      <concept>
        <code value="464318"/>
        <display value="Verrucous hemangioma"/>
      </concept>
      <concept>
        <code value="464321"/>
        <display
                 value="Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome"/>
      </concept>
      <concept>
        <code value="464329"/>
        <display value="Kaposiform lymphangiomatosis"/>
      </concept>
      <concept>
        <code value="464336"/>
        <display value="BENTA disease"/>
      </concept>
      <concept>
        <code value="464343"/>
        <display value="Catastrophic antiphospholipid syndrome"/>
      </concept>
      <concept>
        <code value="464359"/>
        <display value="Benign metanephric tumor"/>
      </concept>
      <concept>
        <code value="464366"/>
        <display value="NEK9-related lethal skeletal dysplasia"/>
      </concept>
      <concept>
        <code value="464370"/>
        <display value="Neonatal alloimmune neutropenia"/>
      </concept>
      <concept>
        <code value="464440"/>
        <display value="Primary dystonia, DYT27 type"/>
      </concept>
      <concept>
        <code value="464443"/>
        <display value="COG6-CGD"/>
      </concept>
      <concept>
        <code value="464453"/>
        <display value="Acquired methemoglobinemia"/>
      </concept>
      <concept>
        <code value="464458"/>
        <display value="Paracetamol poisoning"/>
      </concept>
      <concept>
        <code value="464724"/>
        <display
                 value="Fever-associated acute infantile liver failure syndrome"/>
      </concept>
      <concept>
        <code value="464738"/>
        <display value="Basel-Vanagaite-Smirin-Yosef syndrome"/>
      </concept>
      <concept>
        <code value="464756"/>
        <display value="Familial gastric type 1 neuroendocrine tumor"/>
      </concept>
      <concept>
        <code value="464760"/>
        <display value="Familial cavitary optic disc anomaly"/>
      </concept>
      <concept>
        <code value="465508"/>
        <display value="Symptomatic form of HFE-related hemochromatosis"/>
      </concept>
      <concept>
        <code value="465824"/>
        <display value="Fetal encasement syndrome"/>
      </concept>
      <concept>
        <code value="466026"/>
        <display
                 value="Class I glucose-6-phosphate dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="466650"/>
        <display value="Exercise-induced malignant hyperthermia"/>
      </concept>
      <concept>
        <code value="466670"/>
        <display value="Cyanide poisoning"/>
      </concept>
      <concept>
        <code value="466677"/>
        <display value="Scorpion envenomation"/>
      </concept>
      <concept>
        <code value="466682"/>
        <display value="Euthyroid Graves orbitopathy"/>
      </concept>
      <concept>
        <code value="466688"/>
        <display
                 value="Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"/>
      </concept>
      <concept>
        <code value="466695"/>
        <display value="Supratip dysplasia"/>
      </concept>
      <concept>
        <code value="466703"/>
        <display value="TMEM199-CDG"/>
      </concept>
      <concept>
        <code value="466718"/>
        <display value="Martinique crinkled retinal pigment epitheliopathy"/>
      </concept>
      <concept>
        <code value="466722"/>
        <display value="Autosomal recessive spastic paraplegia type 77"/>
      </concept>
      <concept>
        <code value="466729"/>
        <display value="Familial patent arterial duct"/>
      </concept>
      <concept>
        <code value="466768"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2Z"/>
      </concept>
      <concept>
        <code value="466775"/>
        <display
                 value="Autosomal recessive Charcot-Marie-Tooth disease type 2X"/>
      </concept>
      <concept>
        <code value="466784"/>
        <display
                 value="Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect"/>
      </concept>
      <concept>
        <code value="466791"/>
        <display
                 value="Macrocephaly-intellectual disability-left ventricular non compaction syndrome"/>
      </concept>
      <concept>
        <code value="466794"/>
        <display
                 value="Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"/>
      </concept>
      <concept>
        <code value="466806"/>
        <display
                 value="Autosomal dominant thrombocytopenia with platelet secretion defect"/>
      </concept>
      <concept>
        <code value="466921"/>
        <display
                 value="Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome"/>
      </concept>
      <concept>
        <code value="466926"/>
        <display value="Seizures-scoliosis-macrocephaly syndrome"/>
      </concept>
      <concept>
        <code value="466934"/>
        <display
                 value="VPS11-related autosomal recessive hypomyelinating leukodystrophy"/>
      </concept>
      <concept>
        <code value="466943"/>
        <display
                 value="WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome"/>
      </concept>
      <concept>
        <code value="466950"/>
        <display
                 value="Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation"/>
      </concept>
      <concept>
        <code value="466962"/>
        <display value="SMARCA4-deficient sarcoma of thorax"/>
      </concept>
      <concept>
        <code value="467166"/>
        <display value="Tubulinopathy-associated dysgyria"/>
      </concept>
      <concept>
        <code value="467176"/>
        <display
                 value="Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"/>
      </concept>
      <concept>
        <code value="468620"/>
        <display
                 value="Intellectual disability-epilepsy-extrapyramidal syndrome"/>
      </concept>
      <concept>
        <code value="468631"/>
        <display
                 value="Microcephalic cortical malformations-short stature due to RTTN deficiency"/>
      </concept>
      <concept>
        <code value="468635"/>
        <display value="Cryptogenic multifocal ulcerous stenosing enteritis"/>
      </concept>
      <concept>
        <code value="468641"/>
        <display value="Chronic enteropathy associated with SLCO2A1 gene"/>
      </concept>
      <concept>
        <code value="468661"/>
        <display value="Autosomal recessive spastic paraplegia type 74"/>
      </concept>
      <concept>
        <code value="468666"/>
        <display
                 value="Isolated generalized anhidrosis with normal sweat glands"/>
      </concept>
      <concept>
        <code value="468672"/>
        <display value="Colobomatous macrophthalmia-microcornea syndrome"/>
      </concept>
      <concept>
        <code value="468678"/>
        <display value="White-Sutton syndrome"/>
      </concept>
      <concept>
        <code value="468684"/>
        <display value="CCDC115-CDG"/>
      </concept>
      <concept>
        <code value="468699"/>
        <display value="SLC39A8-CDG"/>
      </concept>
      <concept>
        <code value="468717"/>
        <display value="Rhizomelic chondrodysplasia punctata type 5"/>
      </concept>
      <concept>
        <code value="468726"/>
        <display value="Severe primary trimethylaminuria"/>
      </concept>
      <concept>
        <code value="476084"/>
        <display value="BVES-related limb-girdle muscular dystrophy"/>
      </concept>
      <concept>
        <code value="476093"/>
        <display
                 value="Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome"/>
      </concept>
      <concept>
        <code value="476096"/>
        <display value="Erythrokeratodermia-cardiomyopathy syndrome"/>
      </concept>
      <concept>
        <code value="476113"/>
        <display value="Combined immunodeficiency due to TFRC deficiency"/>
      </concept>
      <concept>
        <code value="476119"/>
        <display
                 value="Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome"/>
      </concept>
      <concept>
        <code value="476126"/>
        <display
                 value="Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="476394"/>
        <display value="PMP2-related Charcot-Marie-Tooth disease type 1"/>
      </concept>
      <concept>
        <code value="476406"/>
        <display
                 value="Congenital generalized hypercontractile muscle stiffness syndrome"/>
      </concept>
      <concept>
        <code value="477650"/>
        <display value="Fibroblastic rheumatism"/>
      </concept>
      <concept>
        <code value="477661"/>
        <display value="IL21-related infantile inflammatory bowel disease"/>
      </concept>
      <concept>
        <code value="477673"/>
        <display
                 value="Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="477684"/>
        <display value="Combined oxidative phosphorylation defect type 26"/>
      </concept>
      <concept>
        <code value="477738"/>
        <display value="Pediatric multiple sclerosis"/>
      </concept>
      <concept>
        <code value="477742"/>
        <display value="Nodular fasciitis"/>
      </concept>
      <concept>
        <code value="477749"/>
        <display
                 value="Pontine autosomal dominant microangiopathy with leukoencephalopathy"/>
      </concept>
      <concept>
        <code value="477774"/>
        <display value="Combined oxidative phosphorylation defect type 27"/>
      </concept>
      <concept>
        <code value="477781"/>
        <display value="Primary condylar hyperplasia"/>
      </concept>
      <concept>
        <code value="477787"/>
        <display
                 value="Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"/>
      </concept>
      <concept>
        <code value="477814"/>
        <display
                 value="Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="477817"/>
        <display value="PMP22-RAI1 contiguous gene duplication syndrome"/>
      </concept>
      <concept>
        <code value="477831"/>
        <display value="Kosaki overgrowth syndrome"/>
      </concept>
      <concept>
        <code value="477857"/>
        <display
                 value="Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"/>
      </concept>
      <concept>
        <code value="477993"/>
        <display
                 value="Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="478029"/>
        <display value="Combined oxidative phosphorylation defect type 29"/>
      </concept>
      <concept>
        <code value="478042"/>
        <display value="Combined oxidative phosphorylation defect type 30"/>
      </concept>
      <concept>
        <code value="478049"/>
        <display
                 value="Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="478664"/>
        <display value="Hereditary sensory and autonomic neuropathy type 8"/>
      </concept>
      <concept>
        <code value="480476"/>
        <display
                 value="Progressive familial intrahepatic cholestasis type 5"/>
      </concept>
      <concept>
        <code value="480483"/>
        <display
                 value="Progressive familial intrahepatic cholestasis type 4"/>
      </concept>
      <concept>
        <code value="480491"/>
        <display
                 value="MYO5B-related progressive familial intrahepatic cholestasis"/>
      </concept>
      <concept>
        <code value="480501"/>
        <display value="Choledochal cyst"/>
      </concept>
      <concept>
        <code value="480506"/>
        <display value="Primary intrahepatic lithiasis"/>
      </concept>
      <concept>
        <code value="480512"/>
        <display value="Idiopathic ductopenia"/>
      </concept>
      <concept>
        <code value="480520"/>
        <display value="Caroli syndrome"/>
      </concept>
      <concept>
        <code value="480524"/>
        <display value="Idiopathic peliosis hepatis"/>
      </concept>
      <concept>
        <code value="480528"/>
        <display
                 value="Lethal hydranencephaly-diaphragmatic hernia syndrome"/>
      </concept>
      <concept>
        <code value="480531"/>
        <display value="Congenital portosystemic shunt"/>
      </concept>
      <concept>
        <code value="480536"/>
        <display
                 value="MSH3-related attenuated familial adenomatous polyposis"/>
      </concept>
      <concept>
        <code value="480541"/>
        <display
                 value="High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement"/>
      </concept>
      <concept>
        <code value="480553"/>
        <display value="Aneurysmal bone cyst"/>
      </concept>
      <concept>
        <code value="480556"/>
        <display value="Isolated neonatal sclerosing cholangitis"/>
      </concept>
      <concept>
        <code value="480682"/>
        <display value="POGLUT1-related limb-girdle muscular dystrophy R21"/>
      </concept>
      <concept>
        <code value="480701"/>
        <display value="Facial diplegia with paresthesias"/>
      </concept>
      <concept>
        <code value="480851"/>
        <display
                 value="Hereditary thrombocytopenia with early-onset myelofibrosis"/>
      </concept>
      <concept>
        <code value="480864"/>
        <display
                 value="Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="480880"/>
        <display
                 value="X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability"/>
      </concept>
      <concept>
        <code value="480898"/>
        <display
                 value="Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome"/>
      </concept>
      <concept>
        <code value="480907"/>
        <display
                 value="X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome"/>
      </concept>
      <concept>
        <code value="481152"/>
        <display
                 value="PYCR2-related microcephaly-progressive leukoencephalopathy"/>
      </concept>
      <concept>
        <code value="481662"/>
        <display value="Familial Chilblain lupus"/>
      </concept>
      <concept>
        <code value="481665"/>
        <display value="USP18 deficiency"/>
      </concept>
      <concept>
        <code value="481986"/>
        <display value="Familial schizencephaly"/>
      </concept>
      <concept>
        <code value="482077"/>
        <display
                 value="HTRA1-related autosomal dominant cerebral small vessel disease"/>
      </concept>
      <concept>
        <code value="482601"/>
        <display
                 value="Adenylosuccinate synthetase-like 1-related distal myopathy"/>
      </concept>
      <concept>
        <code value="482606"/>
        <display
                 value="X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome"/>
      </concept>
      <concept>
        <code value="485275"/>
        <display value="Acquired schizencephaly"/>
      </concept>
      <concept>
        <code value="485350"/>
        <display
                 value="CLCN4-related X-linked intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="485358"/>
        <display value="Propylthiouracil embryofetopathy"/>
      </concept>
      <concept>
        <code value="485405"/>
        <display value="16p12.1p12.3 triplication syndrome"/>
      </concept>
      <concept>
        <code value="485418"/>
        <display value="EMILIN-1-related connective tissue disease"/>
      </concept>
      <concept>
        <code value="485421"/>
        <display
                 value="MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect"/>
      </concept>
      <concept>
        <code value="485426"/>
        <display value="Isolated congenital hepatic fibrosis"/>
      </concept>
      <concept>
        <code value="486811"/>
        <display
                 value="Prenatal-onset spinal muscular atrophy with congenital bone fractures"/>
      </concept>
      <concept>
        <code value="486815"/>
        <display
                 value="Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome"/>
      </concept>
      <concept>
        <code value="487796"/>
        <display value="Takenouchi-Kosaki syndrome"/>
      </concept>
      <concept>
        <code value="487809"/>
        <display value="Pediatric collagenous gastritis"/>
      </concept>
      <concept>
        <code value="487814"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation"/>
      </concept>
      <concept>
        <code value="487825"/>
        <display value="Pierpont syndrome"/>
      </concept>
      <concept>
        <code value="488168"/>
        <display
                 value="Microcephaly-congenital cataract-psoriasiform dermatitis syndrome"/>
      </concept>
      <concept>
        <code value="488191"/>
        <display value="Female infertility due to oocyte meiotic arrest"/>
      </concept>
      <concept>
        <code value="488197"/>
        <display
                 value="Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome"/>
      </concept>
      <concept>
        <code value="488232"/>
        <display
                 value="Split-foot malformation-mesoaxial polydactyly syndrome"/>
      </concept>
      <concept>
        <code value="488239"/>
        <display value="Acute macular neuroretinopathy"/>
      </concept>
      <concept>
        <code value="488265"/>
        <display value="Osteofibrous dysplasia"/>
      </concept>
      <concept>
        <code value="488280"/>
        <display value="14q32 duplication syndrome"/>
      </concept>
      <concept>
        <code value="488333"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2W"/>
      </concept>
      <concept>
        <code value="488434"/>
        <display value="Camptodactyly syndrome, Guadalajara type 3"/>
      </concept>
      <concept>
        <code value="488437"/>
        <display value="SIX2-related frontonasal dysplasia"/>
      </concept>
      <concept>
        <code value="488586"/>
        <display value="Congenital amyoplasia"/>
      </concept>
      <concept>
        <code value="488594"/>
        <display value="Autosomal recessive spastic paraplegia type 76"/>
      </concept>
      <concept>
        <code value="488613"/>
        <display
                 value="Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="488618"/>
        <display value="Transketolase deficiency"/>
      </concept>
      <concept>
        <code value="488627"/>
        <display
                 value="Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="488632"/>
        <display value="TBCK-related intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="488635"/>
        <display
                 value="Early-onset epilepsy-intellectual disability-brain anomalies syndrome"/>
      </concept>
      <concept>
        <code value="488642"/>
        <display
                 value="TELO2-related intellectual disability-neurodevelopmental disorder"/>
      </concept>
      <concept>
        <code value="488647"/>
        <display
                 value="DDX41-related hematologic malignancy predisposition syndrome"/>
      </concept>
      <concept>
        <code value="488650"/>
        <display value="Distal myopathy, Tateyama type"/>
      </concept>
      <concept>
        <code value="493342"/>
        <display value="Vibratory urticaria"/>
      </concept>
      <concept>
        <code value="494344"/>
        <display value="RERE-related neurodevelopmental syndrome"/>
      </concept>
      <concept>
        <code value="494418"/>
        <display value="Vulvar carcinoma"/>
      </concept>
      <concept>
        <code value="494421"/>
        <display value="Sacrococcygeal teratoma"/>
      </concept>
      <concept>
        <code value="494424"/>
        <display value="Extracranial carotid artery aneurysm"/>
      </concept>
      <concept>
        <code value="494428"/>
        <display value="Idiopathic pleuroparenchymal fibroelastosis"/>
      </concept>
      <concept>
        <code value="494433"/>
        <display value="MIRAGE syndrome"/>
      </concept>
      <concept>
        <code value="494439"/>
        <display
                 value="Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="494444"/>
        <display
                 value="DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome"/>
      </concept>
      <concept>
        <code value="494448"/>
        <display value="Vulvar squamous cell carcinoma"/>
      </concept>
      <concept>
        <code value="494451"/>
        <display value="Vulvar basal cell carcinoma"/>
      </concept>
      <concept>
        <code value="494454"/>
        <display value="Vulvar adenocarcinoma"/>
      </concept>
      <concept>
        <code value="494526"/>
        <display
                 value="Infantile-onset generalized dyskinesia with orofacial involvement"/>
      </concept>
      <concept>
        <code value="494541"/>
        <display
                 value="Childhood-onset benign chorea with striatal involvement"/>
      </concept>
      <concept>
        <code value="494547"/>
        <display value="Squamous cell carcinoma of the hypopharynx"/>
      </concept>
      <concept>
        <code value="494550"/>
        <display value="Squamous cell carcinoma of the larynx"/>
      </concept>
      <concept>
        <code value="495274"/>
        <display value="Charcot-Marie-Tooth disease type 2T"/>
      </concept>
      <concept>
        <code value="495818"/>
        <display value="9q33.3q34.11 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="495844"/>
        <display
                 value="C11ORF73-related autosomal recessive hypomyelinating leukodystrophy"/>
      </concept>
      <concept>
        <code value="495875"/>
        <display
                 value="Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="495879"/>
        <display value="Congenital agenesis of the scrotum"/>
      </concept>
      <concept>
        <code value="495930"/>
        <display value="Familial monosomy 7 syndrome"/>
      </concept>
      <concept>
        <code value="496641"/>
        <display
                 value="Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"/>
      </concept>
      <concept>
        <code value="496686"/>
        <display
                 value="Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome"/>
      </concept>
      <concept>
        <code value="496689"/>
        <display
                 value="Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome"/>
      </concept>
      <concept>
        <code value="496693"/>
        <display
                 value="Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome"/>
      </concept>
      <concept>
        <code value="496751"/>
        <display value="EVEN-plus syndrome"/>
      </concept>
      <concept>
        <code value="496756"/>
        <display
                 value="Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome"/>
      </concept>
      <concept>
        <code value="496790"/>
        <display
                 value="Ocular anomalies-axonal neuropathy-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="497188"/>
        <display value="Diffuse intrinsic pontine glioma"/>
      </concept>
      <concept>
        <code value="497737"/>
        <display value="Epidermolytic nevus"/>
      </concept>
      <concept>
        <code value="497757"/>
        <display
                 value="MME-related autosomal dominant Charcot Marie Tooth disease type 2"/>
      </concept>
      <concept>
        <code value="497764"/>
        <display value="Spinocerebellar ataxia type 43"/>
      </concept>
      <concept>
        <code value="497906"/>
        <display value="Childhood-onset basal ganglia degeneration syndrome"/>
      </concept>
      <concept>
        <code value="498228"/>
        <display value="Phyllodes tumor of the prostate"/>
      </concept>
      <concept>
        <code value="498251"/>
        <display value="Menstrual cycle-dependent periodic fever"/>
      </concept>
      <concept>
        <code value="498359"/>
        <display value="Aquagenic palmoplantar keratoderma"/>
      </concept>
      <concept>
        <code value="498474"/>
        <display value="Hyaline fibromatosis syndrome"/>
      </concept>
      <concept>
        <code value="498481"/>
        <display value="LRP5-related primary osteoporosis"/>
      </concept>
      <concept>
        <code value="498485"/>
        <display
                 value="Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="498488"/>
        <display value="Overgrowth syndrome with 2q37 translocation"/>
      </concept>
      <concept>
        <code value="498494"/>
        <display value="Mirror-image polydactyly"/>
      </concept>
      <concept>
        <code value="498497"/>
        <display value="Short rib-polydactyly syndrome type 5"/>
      </concept>
      <concept>
        <code value="498602"/>
        <display value="Sugarman brachydactyly"/>
      </concept>
      <concept>
        <code value="498693"/>
        <display
                 value="MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome"/>
      </concept>
      <concept>
        <code value="499009"/>
        <display value="Congenital syphilis"/>
      </concept>
      <concept>
        <code value="499085"/>
        <display value="Chronic relapsing inflammatory optic neuritis"/>
      </concept>
      <concept>
        <code value="499096"/>
        <display value="Isolated optic neuritis"/>
      </concept>
      <concept>
        <code value="499103"/>
        <display value="Recurrent idiopathic neuroretinitis"/>
      </concept>
      <concept>
        <code value="499107"/>
        <display value="Idiopathic optic perineuritis"/>
      </concept>
      <concept>
        <code value="499182"/>
        <display value="Pilomatrix carcinoma"/>
      </concept>
      <concept>
        <code value="500055"/>
        <display value="Hao-Fountain syndrome due to 16p13.2 microdeletion"/>
      </concept>
      <concept>
        <code value="500062"/>
        <display
                 value="Infantile-onset periodic fever-panniculitis-dermatosis syndrome"/>
      </concept>
      <concept>
        <code value="500095"/>
        <display
                 value="Tall stature-intellectual disability-renal anomalies syndrome"/>
      </concept>
      <concept>
        <code value="500135"/>
        <display
                 value="Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome"/>
      </concept>
      <concept>
        <code value="500144"/>
        <display
                 value="Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome"/>
      </concept>
      <concept>
        <code value="500150"/>
        <display
                 value="Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="500159"/>
        <display
                 value="Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom"/>
      </concept>
      <concept>
        <code value="500163"/>
        <display value="Witteveen-Kolk syndrome"/>
      </concept>
      <concept>
        <code value="500166"/>
        <display
                 value="SIN3-related intellectual disability syndrome due to a point mutation"/>
      </concept>
      <concept>
        <code value="500180"/>
        <display
                 value="Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"/>
      </concept>
      <concept>
        <code value="500188"/>
        <display
                 value="X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="500464"/>
        <display
                 value="Squamous cell carcinoma of the nasal cavity and paranasal sinuses"/>
      </concept>
      <concept>
        <code value="500478"/>
        <display value="Squamous cell carcinoma of the oropharynx"/>
      </concept>
      <concept>
        <code value="500481"/>
        <display value="Squamous cell carcinoma of salivary glands"/>
      </concept>
      <concept>
        <code value="500533"/>
        <display
                 value="Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome"/>
      </concept>
      <concept>
        <code value="500545"/>
        <display
                 value="Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract"/>
      </concept>
      <concept>
        <code value="500548"/>
        <display value="Osteosclerotic metaphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="502305"/>
        <display value="Cochleovestibular malformation"/>
      </concept>
      <concept>
        <code value="502318"/>
        <display value="Cochlear nerve deficiency"/>
      </concept>
      <concept>
        <code value="502363"/>
        <display value="Squamous cell carcinoma of the oral cavity"/>
      </concept>
      <concept>
        <code value="502366"/>
        <display value="Squamous cell carcinoma of the lip"/>
      </concept>
      <concept>
        <code value="502423"/>
        <display
                 value="Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome"/>
      </concept>
      <concept>
        <code value="502430"/>
        <display value="Weiss-Kruszka Syndrome"/>
      </concept>
      <concept>
        <code value="502434"/>
        <display
                 value="STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome"/>
      </concept>
      <concept>
        <code value="502437"/>
        <display value="4q25 proximal deletion syndrome"/>
      </concept>
      <concept>
        <code value="502444"/>
        <display value="Alkaline ceramidase 3 deficiency"/>
      </concept>
      <concept>
        <code value="502499"/>
        <display value="Erythema multiforme major"/>
      </concept>
      <concept>
        <code value="504476"/>
        <display
                 value="Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome"/>
      </concept>
      <concept>
        <code value="504523"/>
        <display
                 value="Severe combined immunodeficiency due to LAT deficiency"/>
      </concept>
      <concept>
        <code value="504530"/>
        <display value="Combined immunodeficiency due to Moesin deficiency"/>
      </concept>
      <concept>
        <code value="505208"/>
        <display value="3-methylglutaconic aciduria type 8"/>
      </concept>
      <concept>
        <code value="505216"/>
        <display value="3-methylglutaconic aciduria type 9"/>
      </concept>
      <concept>
        <code value="505227"/>
        <display value="Combined immunodeficiency due to GINS1 deficiency"/>
      </concept>
      <concept>
        <code value="505237"/>
        <display
                 value="Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="505242"/>
        <display
                 value="Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome"/>
      </concept>
      <concept>
        <code value="505248"/>
        <display
                 value="Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders"/>
      </concept>
      <concept>
        <code value="505395"/>
        <display value="Ventilator-induced diaphragmatic dysfunction"/>
      </concept>
      <concept>
        <code value="505652"/>
        <display value="CDKL5-deficiency disorder"/>
      </concept>
      <concept>
        <code value="506075"/>
        <display value="Non-functioning neuroendocrine tumor of pancreas"/>
      </concept>
      <concept>
        <code value="506090"/>
        <display
                 value="Serotonin-producing neuroendocrine tumor of pancreas"/>
      </concept>
      <concept>
        <code value="506098"/>
        <display value="Neuroendocrine carcinoma of pancreas"/>
      </concept>
      <concept>
        <code value="506112"/>
        <display
                 value="Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas"/>
      </concept>
      <concept>
        <code value="506136"/>
        <display value="Neuroendocrine neoplasm of esophagus"/>
      </concept>
      <concept>
        <code value="506307"/>
        <display value="Stromme syndrome"/>
      </concept>
      <concept>
        <code value="506334"/>
        <display
                 value="Familial steroid-resistant nephrotic syndrome with adrenal insufficiency"/>
      </concept>
      <concept>
        <code value="506353"/>
        <display
                 value="Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction"/>
      </concept>
      <concept>
        <code value="506358"/>
        <display value="Gabriele-de Vries syndrome"/>
      </concept>
      <concept>
        <code value="506784"/>
        <display
                 value="Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome"/>
      </concept>
      <concept>
        <code value="508093"/>
        <display value="MEPAN syndrome"/>
      </concept>
      <concept>
        <code value="508410"/>
        <display value="Familial intestinal malrotation"/>
      </concept>
      <concept>
        <code value="508476"/>
        <display
                 value="Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome"/>
      </concept>
      <concept>
        <code value="508488"/>
        <display value="8q24.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="508498"/>
        <display
                 value="Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome"/>
      </concept>
      <concept>
        <code value="508501"/>
        <display
                 value="Oral-facial-digital syndrome with short stature and brachymesophalangy"/>
      </concept>
      <concept>
        <code value="508512"/>
        <display
                 value="Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome"/>
      </concept>
      <concept>
        <code value="508523"/>
        <display value="Hyperphenylalaninemia due to DNAJC12 deficiency"/>
      </concept>
      <concept>
        <code value="508529"/>
        <display
                 value="Intermediate epidermolysis bullosa simplex with cardiomyopathy"/>
      </concept>
      <concept>
        <code value="508533"/>
        <display
                 value="Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="508542"/>
        <display
                 value="Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="512017"/>
        <display
                 value="Chronic lymphoproliferative disorder of natural killer cells"/>
      </concept>
      <concept>
        <code value="512103"/>
        <display value="Autosomal recessive epidermolytic ichthyosis"/>
      </concept>
      <concept>
        <code value="512260"/>
        <display value="Congenital cerebellar ataxia due to RNU12 mutation"/>
      </concept>
      <concept>
        <code value="513436"/>
        <display value="Autosomal recessive spastic paraplegia type 78"/>
      </concept>
      <concept>
        <code value="513456"/>
        <display
                 value="Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="514352"/>
        <display
                 value="Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome"/>
      </concept>
      <concept>
        <code value="519384"/>
        <display value="Congenital cystic eye"/>
      </concept>
      <concept>
        <code value="519386"/>
        <display value="Isolated congenital entropion"/>
      </concept>
      <concept>
        <code value="519388"/>
        <display value="Autosomal recessive anterior segment dysgenesis"/>
      </concept>
      <concept>
        <code value="519390"/>
        <display value="Isolated blepharochalasis"/>
      </concept>
      <concept>
        <code value="519392"/>
        <display value="Isolated iridoschisis"/>
      </concept>
      <concept>
        <code value="519396"/>
        <display value="Isolated microspherophakia"/>
      </concept>
      <concept>
        <code value="519398"/>
        <display value="Isolated foveal hypoplasia"/>
      </concept>
      <concept>
        <code value="519400"/>
        <display value="Peripapillary staphyloma"/>
      </concept>
      <concept>
        <code value="519402"/>
        <display value="Isolated megalopapilla"/>
      </concept>
      <concept>
        <code value="519404"/>
        <display value="Optic disc pit"/>
      </concept>
      <concept>
        <code value="519406"/>
        <display value="Thygeson superficial punctate keratitis"/>
      </concept>
      <concept>
        <code value="519408"/>
        <display value="Mooren ulcer"/>
      </concept>
      <concept>
        <code value="519410"/>
        <display value="Terrien marginal degeneration"/>
      </concept>
      <concept>
        <code value="519930"/>
        <display value="Fungal keratitis"/>
      </concept>
      <concept>
        <code value="521123"/>
        <display value="Radiation-induced plexopathy"/>
      </concept>
      <concept>
        <code value="521127"/>
        <display value="Osteoradionecrosis of the mandible"/>
      </concept>
      <concept>
        <code value="521219"/>
        <display value="Mirizzi syndrome"/>
      </concept>
      <concept>
        <code value="521258"/>
        <display value="Xq25 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="521305"/>
        <display
                 value="Proximal myopathy with focal depletion of mitochondria"/>
      </concept>
      <concept>
        <code value="521308"/>
        <display
                 value="Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome"/>
      </concept>
      <concept>
        <code value="521390"/>
        <display
                 value="Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome"/>
      </concept>
      <concept>
        <code value="521406"/>
        <display value="Dystonia-parkinsonism-hypermanganesemia syndrome"/>
      </concept>
      <concept>
        <code value="521411"/>
        <display
                 value="Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect"/>
      </concept>
      <concept>
        <code value="521414"/>
        <display
                 value="Autosomal dominant Charcot-Marie-Tooth disease type 2DD"/>
      </concept>
      <concept>
        <code value="521426"/>
        <display value="PLAA-associated neurodevelopmental disorder"/>
      </concept>
      <concept>
        <code value="521432"/>
        <display
                 value="Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="521438"/>
        <display
                 value="Congenital vertebral-cardiac-renal anomalies syndrome"/>
      </concept>
      <concept>
        <code value="521445"/>
        <display
                 value="Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome"/>
      </concept>
      <concept>
        <code value="521450"/>
        <display value="LAMA5-related multisystemic syndrome"/>
      </concept>
      <concept>
        <code value="522037"/>
        <display value="Primary autoimmune enteropathy"/>
      </concept>
      <concept>
        <code value="522077"/>
        <display
                 value="Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="525731"/>
        <display value="Pediatric-onset Graves disease"/>
      </concept>
      <concept>
        <code value="525738"/>
        <display value="Prepubertal anorexia nervosa"/>
      </concept>
      <concept>
        <code value="527276"/>
        <display
                 value="Encephalopathy due to mitochondrial and peroxisomal fission defect"/>
      </concept>
      <concept>
        <code value="527450"/>
        <display
                 value="Severe myopia-generalized joint laxity-short stature syndrome"/>
      </concept>
      <concept>
        <code value="527468"/>
        <display value="Diaphragmatic hernia-short bowel-asplenia syndrome"/>
      </concept>
      <concept>
        <code value="527497"/>
        <display
                 value="NKX6-2-related autosomal recessive hypomyelinating leukodystrophy"/>
      </concept>
      <concept>
        <code value="528084"/>
        <display value="Non-specific syndromic intellectual disability"/>
      </concept>
      <concept>
        <code value="528091"/>
        <display
                 value="Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome"/>
      </concept>
      <concept>
        <code value="528105"/>
        <display
                 value="Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome"/>
      </concept>
      <concept>
        <code value="528623"/>
        <display value="Hereditary angioedema with C1Inh deficiency"/>
      </concept>
      <concept>
        <code value="528647"/>
        <display value="Hereditary angioedema with normal C1Inh"/>
      </concept>
      <concept>
        <code value="528663"/>
        <display value="Acquired angioedema with C1Inh deficiency"/>
      </concept>
      <concept>
        <code value="529468"/>
        <display value="Monoclonal mast cell activation syndrome"/>
      </concept>
      <concept>
        <code value="529574"/>
        <display value="Duane retraction syndrome with congenital deafness"/>
      </concept>
      <concept>
        <code value="529665"/>
        <display
                 value="Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome"/>
      </concept>
      <concept>
        <code value="529799"/>
        <display value="Acute bilirubin encephalopathy"/>
      </concept>
      <concept>
        <code value="529808"/>
        <display value="Chronic bilirubin encephalopathy"/>
      </concept>
      <concept>
        <code value="529831"/>
        <display value="Letrozole toxicity"/>
      </concept>
      <concept>
        <code value="529852"/>
        <display
                 value="Combined hepatocellular carcinoma and cholangiocarcinoma"/>
      </concept>
      <concept>
        <code value="529864"/>
        <display value="Secondary erythromelalgia"/>
      </concept>
      <concept>
        <code value="529962"/>
        <display value="17q24.2 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="529965"/>
        <display
                 value="Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="529970"/>
        <display value="Male infertility due to acephalic spermatozoa"/>
      </concept>
      <concept>
        <code value="529977"/>
        <display
                 value="Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"/>
      </concept>
      <concept>
        <code value="529980"/>
        <display
                 value="Inflammatory bowel disease-recurrent sinopulmonary infections syndrome"/>
      </concept>
      <concept>
        <code value="530033"/>
        <display
                 value="Dermoid or epidermoid cyst of the central nervous system"/>
      </concept>
      <concept>
        <code value="530298"/>
        <display
                 value="Progressive myoclonic epilepsy with neuroserpin inclusion bodies"/>
      </concept>
      <concept>
        <code value="530303"/>
        <display
                 value="Progressive dementia with neuroserpin inclusion bodies"/>
      </concept>
      <concept>
        <code value="530792"/>
        <display value="RELA fusion-positive ependymoma"/>
      </concept>
      <concept>
        <code value="530838"/>
        <display value="KRT1-related diffuse nonepidermolytic keratoderma"/>
      </concept>
      <concept>
        <code value="530849"/>
        <display value="Familial apolipoprotein A5 deficiency"/>
      </concept>
      <concept>
        <code value="530983"/>
        <display value="Lamb-Shaffer syndrome"/>
      </concept>
      <concept>
        <code value="530995"/>
        <display value="Mixed phenotype acute leukemia"/>
      </concept>
      <concept>
        <code value="531151"/>
        <display value="9q21.13 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="535453"/>
        <display value="Familial lipase maturation factor 1 deficiency"/>
      </concept>
      <concept>
        <code value="535458"/>
        <display value="Familial GPIHBP1 deficiency"/>
      </concept>
      <concept>
        <code value="536467"/>
        <display
                 value="B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome"/>
      </concept>
      <concept>
        <code value="536471"/>
        <display value="Spondylodysplastic Ehlers-Danlos syndrome"/>
      </concept>
      <concept>
        <code value="536516"/>
        <display value="Myopathic Ehlers-Danlos syndrome"/>
      </concept>
      <concept>
        <code value="536532"/>
        <display value="Classical-like Ehlers-Danlos syndrome type 2"/>
      </concept>
      <concept>
        <code value="536545"/>
        <display value="Kyphoscoliotic Ehlers-Danlos syndrome"/>
      </concept>
      <concept>
        <code value="537072"/>
        <display value="PLG-related hereditary angioedema with normal C1Inh"/>
      </concept>
      <concept>
        <code value="538096"/>
        <display
                 value="Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy"/>
      </concept>
      <concept>
        <code value="538101"/>
        <display value="Congenital axonal neuropathy with encephalopathy"/>
      </concept>
      <concept>
        <code value="538574"/>
        <display
                 value="Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome"/>
      </concept>
      <concept>
        <code value="538756"/>
        <display value="Familial multiple discoid fibromas"/>
      </concept>
      <concept>
        <code value="538863"/>
        <display value="Classic pyoderma gangrenosum"/>
      </concept>
      <concept>
        <code value="538866"/>
        <display value="Pustular pyoderma gangrenosum"/>
      </concept>
      <concept>
        <code value="538869"/>
        <display value="Bullous pyoderma gangrenosum"/>
      </concept>
      <concept>
        <code value="538872"/>
        <display value="Vegetative pyoderma gangrenosum"/>
      </concept>
      <concept>
        <code value="538931"/>
        <display
                 value="X-linked lymphoproliferative disease due to SAP deficiency"/>
      </concept>
      <concept>
        <code value="538934"/>
        <display
                 value="X-linked lymphoproliferative disease due to XIAP deficiency"/>
      </concept>
      <concept>
        <code value="538958"/>
        <display value="Combined immunodeficiency due to CD70 deficiency"/>
      </concept>
      <concept>
        <code value="538963"/>
        <display value="Combined immunodeficiency due to ITK deficiency"/>
      </concept>
      <concept>
        <code value="541423"/>
        <display
                 value="Growth delay-intellectual disability-hepatopathy syndrome"/>
      </concept>
      <concept>
        <code value="541443"/>
        <display value="Anomalous aortic origin of the left coronary artery"/>
      </concept>
      <concept>
        <code value="541454"/>
        <display
                 value="Anomalous aortic origin of the right coronary artery"/>
      </concept>
      <concept>
        <code value="541507"/>
        <display
                 value="Anomalous origin of coronary artery from the pulmonary artery"/>
      </concept>
      <concept>
        <code value="542301"/>
        <display value="Combined immunodeficiency due to CARMIL2 deficiency"/>
      </concept>
      <concept>
        <code value="542306"/>
        <display
                 value="GNB5-related intellectual disability-cardiac arrhythmia syndrome"/>
      </concept>
      <concept>
        <code value="542310"/>
        <display value="Leukoencephalopathy with calcifications and cysts"/>
      </concept>
      <concept>
        <code value="542323"/>
        <display
                 value="CAR T cell therapy-associated cytokine release syndrome"/>
      </concept>
      <concept>
        <code value="542568"/>
        <display value="Quadricuspid aortic valve"/>
      </concept>
      <concept>
        <code value="542585"/>
        <display value="Auditory neuropathy-optic atrophy syndrome"/>
      </concept>
      <concept>
        <code value="542592"/>
        <display value="Necrobiosis lipoidica"/>
      </concept>
      <concept>
        <code value="542643"/>
        <display value="Livedoid vasculopathy"/>
      </concept>
      <concept>
        <code value="542657"/>
        <display value="Isolated hyperchlorhidrosis"/>
      </concept>
      <concept>
        <code value="543470"/>
        <display
                 value="Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="544254"/>
        <display
                 value="SYNGAP1-related developmental and epileptic encephalopathy"/>
      </concept>
      <concept>
        <code value="544469"/>
        <display value="PRUNE1-related neurological syndrome"/>
      </concept>
      <concept>
        <code value="544472"/>
        <display
                 value="Atypical hemolytic uremic syndrome with complement gene abnormality"/>
      </concept>
      <concept>
        <code value="544482"/>
        <display value="Infection-related hemolytic uremic syndrome"/>
      </concept>
      <concept>
        <code value="544488"/>
        <display
                 value="Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome"/>
      </concept>
      <concept>
        <code value="544493"/>
        <display
                 value="Streptococcus pneumoniae-associated hemolytic uremic syndrome"/>
      </concept>
      <concept>
        <code value="544503"/>
        <display
                 value="RNF13-related severe early-onset epileptic encephalopathy"/>
      </concept>
      <concept>
        <code value="544578"/>
        <display
                 value="Congenital primary megaureter, refluxing and obstructed form"/>
      </concept>
      <concept>
        <code value="544602"/>
        <display
                 value="Congenital myopathy with reduced type 2 muscle fibers"/>
      </concept>
      <concept>
        <code value="544628"/>
        <display
                 value="Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome"/>
      </concept>
      <concept>
        <code value="555402"/>
        <display value="NAD(P)HX dehydratase deficiency"/>
      </concept>
      <concept>
        <code value="555407"/>
        <display value="NAD(P)HX epimerase deficiency"/>
      </concept>
      <concept>
        <code value="555434"/>
        <display
                 value="Fibrohistiocytic inflammatory pseudotumor of the liver"/>
      </concept>
      <concept>
        <code value="555437"/>
        <display
                 value="Lymphoplasmacytic inflammatory pseudotumor of the liver"/>
      </concept>
      <concept>
        <code value="555874"/>
        <display value="Congenital tricuspid valve dysplasia"/>
      </concept>
      <concept>
        <code value="555877"/>
        <display value="FLNA-related X-linked myxomatous valvular dysplasia"/>
      </concept>
      <concept>
        <code value="555905"/>
        <display value="IgA pemphigus"/>
      </concept>
      <concept>
        <code value="556030"/>
        <display value="Early-onset familial hypoaldosteronism"/>
      </concept>
      <concept>
        <code value="556037"/>
        <display value="Late-onset familial hypoaldosteronism"/>
      </concept>
      <concept>
        <code value="556955"/>
        <display value="Pancreatic agenesis-holoprosencephaly syndrome"/>
      </concept>
      <concept>
        <code value="556985"/>
        <display
                 value="Early-onset calcifying leukoencephalopathy-skeletal dysplasia"/>
      </concept>
      <concept>
        <code value="557003"/>
        <display value="Oculoskeletodental syndrome"/>
      </concept>
      <concept>
        <code value="557056"/>
        <display
                 value="Spastic ataxia-dysarthria due to glutaminase deficiency"/>
      </concept>
      <concept>
        <code value="557064"/>
        <display
                 value="Neonatal epileptic encephalopathy due to glutaminase deficiency"/>
      </concept>
      <concept>
        <code value="558411"/>
        <display value="Idiopathic gastroparesis"/>
      </concept>
      <concept>
        <code value="561854"/>
        <display value="FOXG1 syndrome"/>
      </concept>
      <concept>
        <code value="562509"/>
        <display value="Heme oxygenase-1 deficiency"/>
      </concept>
      <concept>
        <code value="562528"/>
        <display
                 value="Congenital limbs-face contractures-hypotonia-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="562538"/>
        <display value="Autosomal recessive extra-oral halitosis"/>
      </concept>
      <concept>
        <code value="562559"/>
        <display
                 value="Anterior maxillary protrusion-strabismus-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="562569"/>
        <display
                 value="TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="562639"/>
        <display
                 value="Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome"/>
      </concept>
      <concept>
        <code value="563576"/>
        <display value="Autoimmune hepatitis type 1"/>
      </concept>
      <concept>
        <code value="563581"/>
        <display value="Autoimmune hepatitis type 2"/>
      </concept>
      <concept>
        <code value="563589"/>
        <display value="Seronegative autoimmune hepatitis"/>
      </concept>
      <concept>
        <code value="563609"/>
        <display value="Isolated anencephaly"/>
      </concept>
      <concept>
        <code value="563612"/>
        <display value="Isolated exencephaly"/>
      </concept>
      <concept>
        <code value="563666"/>
        <display value="Serous cystadenoma of childhood"/>
      </concept>
      <concept>
        <code value="563671"/>
        <display value="Mucinous cystadenoma of childhood"/>
      </concept>
      <concept>
        <code value="563676"/>
        <display value="Seromucinous cystadenoma of childhood"/>
      </concept>
      <concept>
        <code value="563684"/>
        <display value="Furuncular myiasis due to Dermatobia hominis"/>
      </concept>
      <concept>
        <code value="563687"/>
        <display value="Furuncular myiasis due to Cordylobia anthropophaga"/>
      </concept>
      <concept>
        <code value="563690"/>
        <display value="Furuncular myiasis due to Cordylobia rodhaini"/>
      </concept>
      <concept>
        <code value="563708"/>
        <display value="Syndromic congenital sodium diarrhea"/>
      </concept>
      <concept>
        <code value="563951"/>
        <display value="Isolated congenital aglossia"/>
      </concept>
      <concept>
        <code value="563954"/>
        <display value="Isolated congenital hypoglossia"/>
      </concept>
      <concept>
        <code value="563991"/>
        <display value="Osteochondrosis of the tarsal bone"/>
      </concept>
      <concept>
        <code value="564003"/>
        <display value="Osteochondrosis of the metatarsal bone"/>
      </concept>
      <concept>
        <code value="564178"/>
        <display
                 value="Primary hypomagnesemia-refractory seizures-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="565612"/>
        <display value="Primary triglyceride deposit cardiomyovasculopathy"/>
      </concept>
      <concept>
        <code value="565624"/>
        <display value="Combined oxidative phosphorylation defect type 39"/>
      </concept>
      <concept>
        <code value="565641"/>
        <display value="Primary desmosis coli"/>
      </concept>
      <concept>
        <code value="565782"/>
        <display value="Methotrexate toxicity"/>
      </concept>
      <concept>
        <code value="565788"/>
        <display
                 value="Infantile inflammatory bowel disease with neurological involvement"/>
      </concept>
      <concept>
        <code value="565837"/>
        <display
                 value="Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23"/>
      </concept>
      <concept>
        <code value="565858"/>
        <display
                 value="Craniosynostosis-microretrognathia-severe intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="565899"/>
        <display value="POMGNT2-related limb-girdle muscular dystrophy R24"/>
      </concept>
      <concept>
        <code value="565909"/>
        <display value="Calpain-3-related limb-girdle muscular dystrophy D4"/>
      </concept>
      <concept>
        <code value="566067"/>
        <display
                 value="CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome"/>
      </concept>
      <concept>
        <code value="566175"/>
        <display
                 value="Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome"/>
      </concept>
      <concept>
        <code value="566192"/>
        <display
                 value="Congenital autosomal recessive small-platelet thrombocytopenia"/>
      </concept>
      <concept>
        <code value="566231"/>
        <display
                 value="Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha"/>
      </concept>
      <concept>
        <code value="566243"/>
        <display
                 value="Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta"/>
      </concept>
      <concept>
        <code value="566393"/>
        <display value="Acute mast cell leukemia"/>
      </concept>
      <concept>
        <code value="566396"/>
        <display value="Chronic mast cell leukemia"/>
      </concept>
      <concept>
        <code value="566841"/>
        <display value="Liver adenomatosis"/>
      </concept>
      <concept>
        <code value="566847"/>
        <display value="Aprosencephaly/atelencephaly spectrum"/>
      </concept>
      <concept>
        <code value="566852"/>
        <display value="Atelencephaly"/>
      </concept>
      <concept>
        <code value="566857"/>
        <display value="Aprosencephaly"/>
      </concept>
      <concept>
        <code value="566862"/>
        <display value="Left sided atrial isomerism"/>
      </concept>
      <concept>
        <code value="566943"/>
        <display value="Mueller-Weiss syndrome"/>
      </concept>
      <concept>
        <code value="567502"/>
        <display
                 value="B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome"/>
      </concept>
      <concept>
        <code value="567544"/>
        <display value="Idiopathic non-lupus full-house nephropathy"/>
      </concept>
      <concept>
        <code value="567546"/>
        <display
                 value="Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance"/>
      </concept>
      <concept>
        <code value="567548"/>
        <display value="Idiopathic steroid-resistant nephrotic syndrome"/>
      </concept>
      <concept>
        <code value="567550"/>
        <display value="Idiopathic multidrug-resistant nephrotic syndrome"/>
      </concept>
      <concept>
        <code value="567552"/>
        <display
                 value="Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy"/>
      </concept>
      <concept>
        <code value="567983"/>
        <display value="Parenteral nutrition-associated cholestasis"/>
      </concept>
      <concept>
        <code value="568051"/>
        <display value="GJC2-related late-onset primary lymphedema"/>
      </concept>
      <concept>
        <code value="568056"/>
        <display
                 value="Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="568062"/>
        <display
                 value="PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis"/>
      </concept>
      <concept>
        <code value="568065"/>
        <display value="EPHB4-related lymphatic-related hydrops fetalis"/>
      </concept>
      <concept>
        <code value="569164"/>
        <display value="Angiomatoid fibrous histiocytoma"/>
      </concept>
      <concept>
        <code value="569248"/>
        <display value="Microcystic stromal tumor"/>
      </concept>
      <concept>
        <code value="569274"/>
        <display value="Multiple mitochondrial dysfunctions syndrome type 5"/>
      </concept>
      <concept>
        <code value="569290"/>
        <display value="Multiple mitochondrial dysfunctions syndrome type 6"/>
      </concept>
      <concept>
        <code value="569816"/>
        <display value="CELSR1-related late-onset primary lymphedema"/>
      </concept>
      <concept>
        <code value="569821"/>
        <display value="Congenital primary lymphedema of Gordon"/>
      </concept>
      <concept>
        <code value="570371"/>
        <display value="Bartter syndrome type 5"/>
      </concept>
      <concept>
        <code value="570422"/>
        <display value="Galactose mutarotase deficiency"/>
      </concept>
      <concept>
        <code value="570431"/>
        <display value="Idiopathic multicentric Castleman disease"/>
      </concept>
      <concept>
        <code value="570438"/>
        <display value="HHV-8-associated multicentric Castleman disease"/>
      </concept>
      <concept>
        <code value="570470"/>
        <display value="Ricin poisoning"/>
      </concept>
      <concept>
        <code value="570491"/>
        <display
                 value="QRSL1-related combined oxidative phosphorylation defect"/>
      </concept>
      <concept>
        <code value="570762"/>
        <display value="Infective endocarditis"/>
      </concept>
      <concept>
        <code value="572013"/>
        <display
                 value="Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome"/>
      </concept>
      <concept>
        <code value="572333"/>
        <display
                 value="Blepharophimosis-ptosis-epicanthus inversus syndrome plus"/>
      </concept>
      <concept>
        <code value="572354"/>
        <display
                 value="Blepharophimosis-ptosis-epicanthus inversus syndrome type 1"/>
      </concept>
      <concept>
        <code value="572361"/>
        <display
                 value="Blepharophimosis-ptosis-epicanthus inversus syndrome type 2"/>
      </concept>
      <concept>
        <code value="572385"/>
        <display value="Brachydactyly type B1"/>
      </concept>
      <concept>
        <code value="572428"/>
        <display
                 value="Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia"/>
      </concept>
      <concept>
        <code value="572543"/>
        <display value="RFVT2-related riboflavin transporter deficiency"/>
      </concept>
      <concept>
        <code value="572550"/>
        <display value="RFVT3-related riboflavin transporter deficiency"/>
      </concept>
      <concept>
        <code value="572761"/>
        <display
                 value="DONSON-related microcephaly-short stature-limb abnormalities spectrum"/>
      </concept>
      <concept>
        <code value="572768"/>
        <display value="Microcephaly-micromelia syndrome"/>
      </concept>
      <concept>
        <code value="572773"/>
        <display
                 value="Microcephaly-short stature-limb abnormalities syndrome"/>
      </concept>
      <concept>
        <code value="572798"/>
        <display
                 value="WARS2-related combined oxidative phosphorylation defect"/>
      </concept>
      <concept>
        <code value="573253"/>
        <display value="Split cord malformation type II"/>
      </concept>
      <concept>
        <code value="574918"/>
        <display
                 value="Predisposition to severe viral infection due to IRF7 deficiency"/>
      </concept>
      <concept>
        <code value="574957"/>
        <display
                 value="Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency"/>
      </concept>
      <concept>
        <code value="575553"/>
        <display
                 value="Cathepsin A-related arteriopathy-strokes-leukoencephalopathy"/>
      </concept>
      <concept>
        <code value="576074"/>
        <display value="Middle East respiratory syndrome"/>
      </concept>
      <concept>
        <code value="576227"/>
        <display
                 value="Complete atrioventricular septal defect without ventricular hypoplasia"/>
      </concept>
      <concept>
        <code value="576232"/>
        <display
                 value="Partial atrioventricular septal defect with ventricular hypoplasia"/>
      </concept>
      <concept>
        <code value="576235"/>
        <display
                 value="Partial atrioventricular septal defect without ventricular hypoplasia"/>
      </concept>
      <concept>
        <code value="576242"/>
        <display value="Intermediate atrioventricular septal defect"/>
      </concept>
      <concept>
        <code value="576278"/>
        <display value="SATB2-associated syndrome"/>
      </concept>
      <concept>
        <code value="576283"/>
        <display
                 value="SATB2-associated syndrome due to a pathogenic variant"/>
      </concept>
      <concept>
        <code value="576349"/>
        <display
                 value="NLRC4-related familial cold autoinflammatory syndrome"/>
      </concept>
      <concept>
        <code value="576370"/>
        <display value="Variant Creutzfeldt-Jakob disease"/>
      </concept>
      <concept>
        <code value="576379"/>
        <display value="Iatrogenic Creutzfeldt-Jakob disease"/>
      </concept>
      <concept>
        <code value="580572"/>
        <display value="Intraductal tubulopapillary neoplasm of pancreas"/>
      </concept>
      <concept>
        <code value="580933"/>
        <display value="Lethal brain and heart developmental defects"/>
      </concept>
      <concept>
        <code value="580940"/>
        <display
                 value="QRICH1-related intellectual disability-chondrodysplasia syndrome"/>
      </concept>
      <concept>
        <code value="580951"/>
        <display value="Punctate inner choroidopathy"/>
      </concept>
      <concept>
        <code value="581271"/>
        <display value="Cramp-fasciculation syndrome"/>
      </concept>
      <concept>
        <code value="583097"/>
        <display value="Congenital infiltrating lipomatosis of the face"/>
      </concept>
      <concept>
        <code value="583595"/>
        <display
                 value="Serine biosynthesis pathway deficiency, infantile/juvenile form"/>
      </concept>
      <concept>
        <code value="583602"/>
        <display
                 value="Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency"/>
      </concept>
      <concept>
        <code value="583607"/>
        <display
                 value="Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="583612"/>
        <display
                 value="Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency"/>
      </concept>
      <concept>
        <code value="583856"/>
        <display value="Isolated splenic vein thrombosis"/>
      </concept>
      <concept>
        <code value="583861"/>
        <display value="Isolated mesenteric vein thrombosis"/>
      </concept>
      <concept>
        <code value="585867"/>
        <display value="Acute myeloid leukemia with t(9;22)(q34.1;q11.2)"/>
      </concept>
      <concept>
        <code value="585877"/>
        <display
                 value="B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality"/>
      </concept>
      <concept>
        <code value="585909"/>
        <display
                 value="B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)"/>
      </concept>
      <concept>
        <code value="585918"/>
        <display value="B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)"/>
      </concept>
      <concept>
        <code value="585929"/>
        <display
                 value="B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)"/>
      </concept>
      <concept>
        <code value="585936"/>
        <display
                 value="B-lymphoblastic leukemia/lymphoma with hyperdiploidy"/>
      </concept>
      <concept>
        <code value="585942"/>
        <display value="B-lymphoblastic leukemia/lymphoma with hypodiploidy"/>
      </concept>
      <concept>
        <code value="585948"/>
        <display
                 value="B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)"/>
      </concept>
      <concept>
        <code value="585956"/>
        <display
                 value="B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)"/>
      </concept>
      <concept>
        <code value="586130"/>
        <display value="Sporadic fatal insomnia"/>
      </concept>
      <concept>
        <code value="589435"/>
        <display
                 value="Spondylometaphyseal dysplasia-corneal dystrophy syndrome"/>
      </concept>
      <concept>
        <code value="589442"/>
        <display
                 value="Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome"/>
      </concept>
      <concept>
        <code value="589515"/>
        <display
                 value="PUM1-associated developmental disability-ataxia-seizure syndrome"/>
      </concept>
      <concept>
        <code value="589522"/>
        <display value="Spinocerebellar ataxia type 46"/>
      </concept>
      <concept>
        <code value="589527"/>
        <display value="Spinocerebellar ataxia type 45"/>
      </concept>
      <concept>
        <code value="589534"/>
        <display
                 value="Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)"/>
      </concept>
      <concept>
        <code value="589542"/>
        <display
                 value="Myeloid/lymphoid neoplasm associated with JAK2 rearrangement"/>
      </concept>
      <concept>
        <code value="589547"/>
        <display
                 value="GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder"/>
      </concept>
      <concept>
        <code value="589595"/>
        <display value="Mixed phenotype acute leukemia with t(v;11q23.3)"/>
      </concept>
      <concept>
        <code value="589608"/>
        <display
                 value="Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies"/>
      </concept>
      <concept>
        <code value="589618"/>
        <display value="Dystonia 28"/>
      </concept>
      <concept>
        <code value="589821"/>
        <display value="Congenital-onset Steinert myotonic dystrophy"/>
      </concept>
      <concept>
        <code value="589824"/>
        <display value="Childhood-onset Steinert myotonic dystrophy"/>
      </concept>
      <concept>
        <code value="589827"/>
        <display value="Juvenile-onset Steinert myotonic dystrophy"/>
      </concept>
      <concept>
        <code value="589830"/>
        <display value="Adult-onset Steinert myotonic dystrophy"/>
      </concept>
      <concept>
        <code value="589833"/>
        <display value="Late-onset Steinert myotonic dystrophy"/>
      </concept>
      <concept>
        <code value="589856"/>
        <display
                 value="Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"/>
      </concept>
      <concept>
        <code value="589905"/>
        <display
                 value="PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome"/>
      </concept>
      <concept>
        <code value="590539"/>
        <display value="Isolated melanotic schwannoma"/>
      </concept>
      <concept>
        <code value="592564"/>
        <display
                 value="GNAO1-related developmental delay-seizures-movement disorder spectrum"/>
      </concept>
      <concept>
        <code value="592570"/>
        <display
                 value="TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome"/>
      </concept>
      <concept>
        <code value="592574"/>
        <display value="Menke-Hennekam syndrome"/>
      </concept>
      <concept>
        <code value="592850"/>
        <display
                 value="Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies"/>
      </concept>
      <concept>
        <code value="592856"/>
        <display
                 value="Neuromyelitis optica spectrum disorder with anti-MOG antibodies"/>
      </concept>
      <concept>
        <code value="592869"/>
        <display
                 value="Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies"/>
      </concept>
      <concept>
        <code value="592873"/>
        <display value="Acute transverse myelitis with anti-MOG antibodies"/>
      </concept>
      <concept>
        <code value="592894"/>
        <display
                 value="Acute disseminated encephalomyelitis with anti-MOG antibodies"/>
      </concept>
      <concept>
        <code value="592900"/>
        <display
                 value="Acute disseminated encephalomyelitis without anti-MOG antibodies"/>
      </concept>
      <concept>
        <code value="595098"/>
        <display value="Timothy syndrome type 1"/>
      </concept>
      <concept>
        <code value="595105"/>
        <display value="Timothy syndrome type 2"/>
      </concept>
      <concept>
        <code value="595109"/>
        <display value="Atypical Timothy syndrome"/>
      </concept>
      <concept>
        <code value="595133"/>
        <display value="Perivascular epithelioid cell neoplasm"/>
      </concept>
      <concept>
        <code value="595356"/>
        <display value="Localized dystrophic epidermolysis bullosa"/>
      </concept>
      <concept>
        <code value="596008"/>
        <display
                 value="Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis"/>
      </concept>
      <concept>
        <code value="596448"/>
        <display value="IgG4-related systemic disease"/>
      </concept>
      <concept>
        <code value="596753"/>
        <display value="VEXAS syndrome"/>
      </concept>
      <concept>
        <code value="596759"/>
        <display
                 value="Combined immunodeficiency due to RELA haploinsufficiency"/>
      </concept>
      <concept>
        <code value="596937"/>
        <display value="Portosinusoidal vascular disease"/>
      </concept>
      <concept>
        <code value="596941"/>
        <display value="Incomplete septal cirrhosis"/>
      </concept>
      <concept>
        <code value="597201"/>
        <display value="TRIM22-related inflammatory bowel disease"/>
      </concept>
      <concept>
        <code value="597623"/>
        <display
                 value="IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome"/>
      </concept>
      <concept>
        <code value="597733"/>
        <display value="Oculocutaneous albinism type 8"/>
      </concept>
      <concept>
        <code value="597738"/>
        <display value="Luscan-Lumish syndrome"/>
      </concept>
      <concept>
        <code value="597743"/>
        <display
                 value="SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome"/>
      </concept>
      <concept>
        <code value="597746"/>
        <display
                 value="Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome"/>
      </concept>
      <concept>
        <code value="597874"/>
        <display
                 value="MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome"/>
      </concept>
      <concept>
        <code value="597887"/>
        <display value="ALPI-related inflammatory bowel disease"/>
      </concept>
      <concept>
        <code value="597939"/>
        <display value="Euthyroid dysprealbuminemic hyperthyroxinemia"/>
      </concept>
      <concept>
        <code value="598164"/>
        <display value="FOXG1 syndrome due to intragenic alteration"/>
      </concept>
      <concept>
        <code value="598216"/>
        <display value="Upper tract urothelial carcinoma"/>
      </concept>
      <concept>
        <code value="598363"/>
        <display
                 value="Multisystem inflammatory syndrome in children and adults"/>
      </concept>
      <concept>
        <code value="598603"/>
        <display
                 value="Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome"/>
      </concept>
      <concept>
        <code value="599082"/>
        <display
                 value="CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="599373"/>
        <display value="STXBP1-related encephalopathy"/>
      </concept>
      <concept>
        <code value="599376"/>
        <display value="Hypomyelination of early myelinating structures"/>
      </concept>
      <concept>
        <code value="599418"/>
        <display
                 value="Hereditary angioedema with normal C1Inh not related to F12 or PLG variant"/>
      </concept>
      <concept>
        <code value="599480"/>
        <display value="Acquired hemophilia A"/>
      </concept>
      <concept>
        <code value="599485"/>
        <display value="Acquired hemophilia B"/>
      </concept>
      <concept>
        <code value="599490"/>
        <display value="Acquired factor V deficiency"/>
      </concept>
      <concept>
        <code value="599495"/>
        <display value="Acquired factor VII deficiency"/>
      </concept>
      <concept>
        <code value="599501"/>
        <display value="Acquired factor X deficiency"/>
      </concept>
      <concept>
        <code value="599507"/>
        <display value="Acquired factor XI deficiency"/>
      </concept>
      <concept>
        <code value="599513"/>
        <display value="Acquired factor XIII deficiency"/>
      </concept>
      <concept>
        <code value="599519"/>
        <display value="Factor V short isoforms-related bleeding disorder"/>
      </concept>
      <concept>
        <code value="599579"/>
        <display value="Factor V Amsterdam bleeding disorder"/>
      </concept>
      <concept>
        <code value="600194"/>
        <display value="Factor V Atlanta bleeding disorder"/>
      </concept>
      <concept>
        <code value="600663"/>
        <display
                 value="NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance"/>
      </concept>
      <concept>
        <code value="600668"/>
        <display
                 value="CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="600691"/>
        <display value="Combined deficiency of factor VII and factor X"/>
      </concept>
      <concept>
        <code value="600731"/>
        <display value="Clark-Baraitser syndrome"/>
      </concept>
      <concept>
        <code value="600952"/>
        <display
                 value="Non-syndromic anorectal malformation with perineal fistula"/>
      </concept>
      <concept>
        <code value="600961"/>
        <display
                 value="Non-syndromic anorectal malformation with rectourethral fistula"/>
      </concept>
      <concept>
        <code value="600966"/>
        <display
                 value="Non-syndromic anorectal malformation with rectourethral fistula, bulbar type"/>
      </concept>
      <concept>
        <code value="600975"/>
        <display
                 value="Non-syndromic anorectal malformation with rectourethral fistula, prostatic type"/>
      </concept>
      <concept>
        <code value="600984"/>
        <display
                 value="Non-syndromic anorectal malformation with rectovesical fistula"/>
      </concept>
      <concept>
        <code value="600993"/>
        <display
                 value="Non-syndromic anorectal malformation with vestibular fistula"/>
      </concept>
      <concept>
        <code value="600998"/>
        <display value="Non-syndromic cloacal malformation"/>
      </concept>
      <concept>
        <code value="601002"/>
        <display
                 value="Non-syndromic anorectal malformation without fistula"/>
      </concept>
      <concept>
        <code value="601008"/>
        <display
                 value="Non-syndromic anorectal malformation with anal stenosis"/>
      </concept>
      <concept>
        <code value="601013"/>
        <display
                 value="Non-syndromic anorectal malformation with pouch colon"/>
      </concept>
      <concept>
        <code value="601018"/>
        <display
                 value="Non-syndromic anorectal malformation with rectal atresia"/>
      </concept>
      <concept>
        <code value="601023"/>
        <display
                 value="Non-syndromic anorectal malformation with rectal stenosis"/>
      </concept>
      <concept>
        <code value="601028"/>
        <display
                 value="Non-syndromic anorectal malformation with rectovaginal fistula"/>
      </concept>
      <concept>
        <code value="601033"/>
        <display
                 value="Non-syndromic anorectal malformation with H-type fistula"/>
      </concept>
      <concept>
        <code value="603448"/>
        <display
                 value="Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome"/>
      </concept>
      <concept>
        <code value="603494"/>
        <display
                 value="Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome"/>
      </concept>
      <concept>
        <code value="603515"/>
        <display value="Isolated female hypospadias"/>
      </concept>
      <concept>
        <code value="603684"/>
        <display
                 value="KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome"/>
      </concept>
      <concept>
        <code value="603689"/>
        <display value="KLHL7-related Bohring-Opitz-like syndrome"/>
      </concept>
      <concept>
        <code value="603694"/>
        <display
                 value="KLHL7-related Crisponi/cold-induced sweating-like syndrome"/>
      </concept>
      <concept>
        <code value="604680"/>
        <display
                 value="Symptomatic form of X-linked centronuclear myopathy in female carriers"/>
      </concept>
      <concept>
        <code value="610569"/>
        <display
                 value="KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome"/>
      </concept>
      <concept>
        <code value="610573"/>
        <display
                 value="CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome"/>
      </concept>
      <concept>
        <code value="611201"/>
        <display value="Oculogastrointestinal-neurodevelopmental syndrome"/>
      </concept>
      <concept>
        <code value="611207"/>
        <display
                 value="Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome"/>
      </concept>
      <concept>
        <code value="611216"/>
        <display
                 value="Aplastic anemia-intellectual disability-dwarfism syndrome"/>
      </concept>
      <concept>
        <code value="611223"/>
        <display value="EN1-related dorsoventral syndrome"/>
      </concept>
      <concept>
        <code value="611237"/>
        <display value="Parkinsonism with polyneuropathy"/>
      </concept>
      <concept>
        <code value="611247"/>
        <display value="Pontocerebellar hypoplasia type 11"/>
      </concept>
      <concept>
        <code value="611256"/>
        <display value="Pontocerebellar hypoplasia type 12"/>
      </concept>
      <concept>
        <code value="613267"/>
        <display value="Pontocerebellar hypoplasia type 13"/>
      </concept>
      <concept>
        <code value="613274"/>
        <display value="Pontocerebellar hypoplasia type 14"/>
      </concept>
      <concept>
        <code value="615938"/>
        <display value="Spastic paraparesis-cataracts-speech delay syndrome"/>
      </concept>
      <concept>
        <code value="615943"/>
        <display value="Granuloma faciale"/>
      </concept>
      <concept>
        <code value="615954"/>
        <display
                 value="Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome"/>
      </concept>
      <concept>
        <code value="615964"/>
        <display
                 value="Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate"/>
      </concept>
      <concept>
        <code value="615970"/>
        <display value="Chronic intervillositis of unknown etiology"/>
      </concept>
      <concept>
        <code value="615983"/>
        <display
                 value="Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation"/>
      </concept>
      <concept>
        <code value="615986"/>
        <display
                 value="Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster"/>
      </concept>
      <concept>
        <code value="616874"/>
        <display
                 value="Rare disorder without a determined diagnosis after full investigation"/>
      </concept>
      <concept>
        <code value="617294"/>
        <display value="Twin anemia-polycythemia sequence"/>
      </concept>
      <concept>
        <code value="617297"/>
        <display value="Twin-reversed arterial perfusion sequence"/>
      </concept>
      <concept>
        <code value="617301"/>
        <display value="Selective intrauterine growth restriction"/>
      </concept>
      <concept>
        <code value="617304"/>
        <display value="Amniotic fluid embolism"/>
      </concept>
      <concept>
        <code value="617408"/>
        <display value="Classic eosinophilic pustular folliculitis"/>
      </concept>
      <concept>
        <code value="617440"/>
        <display value="Painful legs and moving toes syndrome"/>
      </concept>
      <concept>
        <code value="617449"/>
        <display
                 value="Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome"/>
      </concept>
      <concept>
        <code value="617910"/>
        <display value="Conjunctival malignant melanoma"/>
      </concept>
      <concept>
        <code value="617916"/>
        <display
                 value="Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia"/>
      </concept>
      <concept>
        <code value="617919"/>
        <display value="F12-associated cold autoinflammatory syndrome"/>
      </concept>
      <concept>
        <code value="617930"/>
        <display value="Hemophilia B Leyden"/>
      </concept>
      <concept>
        <code value="618891"/>
        <display
                 value="Chronic neurovisceral acid sphingomyelinase deficiency"/>
      </concept>
      <concept>
        <code value="619233"/>
        <display
                 value="Hereditary persistence of fetal hemoglobin-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="619363"/>
        <display value="NOCARH syndrome"/>
      </concept>
      <concept>
        <code value="619367"/>
        <display value="SAMD9L-associated autoinflammatory syndrome"/>
      </concept>
      <concept>
        <code value="619941"/>
        <display
                 value="Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency"/>
      </concept>
      <concept>
        <code value="619948"/>
        <display
                 value="Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency"/>
      </concept>
      <concept>
        <code value="619953"/>
        <display
                 value="Familial hyperinflammatory lymphoproliferative immunodeficiency"/>
      </concept>
      <concept>
        <code value="619972"/>
        <display value="CADINS disease"/>
      </concept>
      <concept>
        <code value="619979"/>
        <display
                 value="Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome"/>
      </concept>
      <concept>
        <code value="620102"/>
        <display value="Non-syndromic unicoronal craniosynostosis"/>
      </concept>
      <concept>
        <code value="620113"/>
        <display value="Non-syndromic unilambdoid craniosynostosis"/>
      </concept>
      <concept>
        <code value="620139"/>
        <display value="Non-syndromic unifrontosphenoidal craniosynostosis"/>
      </concept>
      <concept>
        <code value="620146"/>
        <display value="Non-syndromic unisquamosal craniosynostosis"/>
      </concept>
      <concept>
        <code value="620158"/>
        <display
                 value="Non-syndromic non-specific multisutural craniosynostosis"/>
      </concept>
      <concept>
        <code value="620178"/>
        <display value="Non-syndromic bilambdoid craniosynostosis"/>
      </concept>
      <concept>
        <code value="620186"/>
        <display
                 value="Non-syndromic unicoronal and sagittal craniosynostosis"/>
      </concept>
      <concept>
        <code value="620192"/>
        <display value="Non-syndromic metopic and sagittal craniosynostosis"/>
      </concept>
      <concept>
        <code value="620198"/>
        <display
                 value="Non-syndromic bicoronal and metopic craniosynostosis"/>
      </concept>
      <concept>
        <code value="620205"/>
        <display
                 value="Non-syndromic bicoronal and sagittal craniosynostosis"/>
      </concept>
      <concept>
        <code value="620212"/>
        <display value="Non-syndromic pansynostosis"/>
      </concept>
      <concept>
        <code value="620217"/>
        <display value="Bartter syndrome type 1"/>
      </concept>
      <concept>
        <code value="620220"/>
        <display value="Bartter syndrome type 2"/>
      </concept>
      <concept>
        <code value="620363"/>
        <display
                 value="Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome"/>
      </concept>
      <concept>
        <code value="620368"/>
        <display
                 value="EGF-related primary hypomagnesemia with intellectual disability"/>
      </concept>
      <concept>
        <code value="620371"/>
        <display
                 value="Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation"/>
      </concept>
      <concept>
        <code value="621758"/>
        <display
                 value="Fibrosis-neurodegeneration-cerebral angiomatosis syndrome"/>
      </concept>
      <concept>
        <code value="622099"/>
        <display value="Superior mesenteric artery syndrome"/>
      </concept>
      <concept>
        <code value="622925"/>
        <display
                 value="X-linked severe syndromic thoracic aortic aneurysm and dissection"/>
      </concept>
      <concept>
        <code value="622934"/>
        <display
                 value="SBDS-related severe neonatal spondylometaphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="623615"/>
        <display value="Autoimmune limbic encephalitis"/>
      </concept>
      <concept>
        <code value="623626"/>
        <display value="Paraneoplastic cerebellar degeneration"/>
      </concept>
      <concept>
        <code value="623695"/>
        <display value="MIR140-related spondyloepiphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="623789"/>
        <display value="Body integrity dysphoria"/>
      </concept>
      <concept>
        <code value="623801"/>
        <display value="Acute flaccid myelitis"/>
      </concept>
      <concept>
        <code value="624166"/>
        <display
                 value="Non-specific autoimmune supratentorial encephalitis with characteristic antibodies"/>
      </concept>
      <concept>
        <code value="624178"/>
        <display
                 value="Non-specific autoimmune supratentorial encephalitis without characteristic antibodies"/>
      </concept>
      <concept>
        <code value="624190"/>
        <display value="Paraneoplastic isolated brainstem encephalitis"/>
      </concept>
      <concept>
        <code value="624199"/>
        <display
                 value="Non-specific autoimmune brainstem encephalitis with characteristic antibodies"/>
      </concept>
      <concept>
        <code value="624216"/>
        <display
                 value="Non-specific autoimmune brainstem encephalitis without characteristic antibodies"/>
      </concept>
      <concept>
        <code value="624244"/>
        <display value="Postinfectious cerebellitis"/>
      </concept>
      <concept>
        <code value="624259"/>
        <display
                 value="Non-specific autoimmune cerebellar ataxia with characteristic antibodies"/>
      </concept>
      <concept>
        <code value="624268"/>
        <display
                 value="Non-specific autoimmune cerebellar ataxia without characteristic antibodies"/>
      </concept>
      <concept>
        <code value="631068"/>
        <display value="Autosomal dominant spastic paraplegia type 80"/>
      </concept>
      <concept>
        <code value="631073"/>
        <display value="Autosomal recessive spastic paraplegia type 82"/>
      </concept>
      <concept>
        <code value="631076"/>
        <display value="Autosomal recessive spastic paraplegia type 83"/>
      </concept>
      <concept>
        <code value="631079"/>
        <display value="Autosomal recessive spastic paraplegia type 84"/>
      </concept>
      <concept>
        <code value="631082"/>
        <display value="Autosomal recessive spastic paraplegia type 85"/>
      </concept>
      <concept>
        <code value="631085"/>
        <display value="Autosomal recessive spastic paraplegia type 86"/>
      </concept>
      <concept>
        <code value="631088"/>
        <display value="Autosomal recessive spastic paraplegia type 87"/>
      </concept>
      <concept>
        <code value="631095"/>
        <display value="Spinocerebellar ataxia type 44"/>
      </concept>
      <concept>
        <code value="631103"/>
        <display value="Spinocerebellar ataxia type 48"/>
      </concept>
      <concept>
        <code value="631106"/>
        <display value="Spinocerebellar ataxia type 49"/>
      </concept>
      <concept>
        <code value="631248"/>
        <display value="Mitchell Syndrome"/>
      </concept>
      <concept>
        <code value="631251"/>
        <display value="Cancer of unknown primary site"/>
      </concept>
      <concept>
        <code value="632603"/>
        <display
                 value="Mesomelic dysplasia-digital anomalies-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="633004"/>
        <display
                 value="KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome"/>
      </concept>
      <concept>
        <code value="633014"/>
        <display
                 value="SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome"/>
      </concept>
      <concept>
        <code value="633021"/>
        <display
                 value="SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome"/>
      </concept>
      <concept>
        <code value="633024"/>
        <display
                 value="SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome"/>
      </concept>
      <concept>
        <code value="633028"/>
        <display value="CPE-related Prader-Willi-like syndrome"/>
      </concept>
      <concept>
        <code value="633035"/>
        <display
                 value="Intellectual disability-early-onset cataract-microcephaly syndrome"/>
      </concept>
      <concept>
        <code value="633076"/>
        <display value="Split cord malformation, composite type"/>
      </concept>
      <concept>
        <code value="633099"/>
        <display value="PAICS deficiency"/>
      </concept>
      <concept>
        <code value="633124"/>
        <display value="Invasive scopulariopsis infection"/>
      </concept>
      <concept>
        <code value="633211"/>
        <display value="Preaxial digit brachydactyly-webbed fingers"/>
      </concept>
      <concept>
        <code value="633228"/>
        <display value="Isolated proximal femoral focal deficiency"/>
      </concept>
      <concept>
        <code value="634461"/>
        <display value="Mosaic neurofibromatosis type 1"/>
      </concept>
      <concept>
        <code value="634475"/>
        <display value="Mosaic NF2-related schwannomatosis"/>
      </concept>
      <concept>
        <code value="634492"/>
        <display value="Mosaic schwannomatosis"/>
      </concept>
      <concept>
        <code value="634511"/>
        <display value="Mosaic Legius syndrome"/>
      </concept>
      <concept>
        <code value="636941"/>
        <display value="Vascular Ehlers-Danlos-polymicrogyria syndrome"/>
      </concept>
      <concept>
        <code value="636945"/>
        <display value="Invasive candidiasis"/>
      </concept>
      <concept>
        <code value="636950"/>
        <display value="Glaucomatocyclitic crisis disease"/>
      </concept>
      <concept>
        <code value="636955"/>
        <display value="Endemic pemphigus foliaceus"/>
      </concept>
      <concept>
        <code value="636965"/>
        <display value="Autosomal dominant myosin storage myopathy"/>
      </concept>
      <concept>
        <code value="636970"/>
        <display value="Autosomal recessive myosin storage myopathy"/>
      </concept>
      <concept>
        <code value="637013"/>
        <display
                 value="SMARCA2-related blepharophimosis-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="637051"/>
        <display value="Borna virus encephalitis"/>
      </concept>
      <concept>
        <code value="637061"/>
        <display value="Isolated optic nerve hypoplasia"/>
      </concept>
      <concept>
        <code value="637064"/>
        <display value="Isolated optic nerve aplasia"/>
      </concept>
      <concept>
        <code value="641350"/>
        <display value="Immunotherapy induced hypophysitis"/>
      </concept>
      <concept>
        <code value="641353"/>
        <display
                 value="Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome"/>
      </concept>
      <concept>
        <code value="641361"/>
        <display
                 value="Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome"/>
      </concept>
      <concept>
        <code value="641368"/>
        <display
                 value="Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency"/>
      </concept>
      <concept>
        <code value="641372"/>
        <display
                 value="B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)"/>
      </concept>
      <concept>
        <code value="641375"/>
        <display value="B-lymphoblastic leukemia/lymphoma with t(17;19)"/>
      </concept>
      <concept>
        <code value="641380"/>
        <display value="PAPASH syndrome"/>
      </concept>
      <concept>
        <code value="641385"/>
        <display value="PASS syndrome"/>
      </concept>
      <concept>
        <code value="641390"/>
        <display value="PsAPASH syndrome"/>
      </concept>
      <concept>
        <code value="641396"/>
        <display value="Central nervous system tuberculosis"/>
      </concept>
      <concept>
        <code value="641496"/>
        <display value="Childhood-onset schizophrenia"/>
      </concept>
      <concept>
        <code value="641829"/>
        <display value="Neonatal compartment syndrome"/>
      </concept>
      <concept>
        <code value="642071"/>
        <display value="Primary pulmonary vein stenosis"/>
      </concept>
      <concept>
        <code value="642085"/>
        <display
                 value="EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity"/>
      </concept>
      <concept>
        <code value="642099"/>
        <display
                 value="Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type"/>
      </concept>
      <concept>
        <code value="642671"/>
        <display value="Familial hyperaldosteronism type IV"/>
      </concept>
      <concept>
        <code value="642675"/>
        <display value="CHD8 overgrowth syndrome"/>
      </concept>
      <concept>
        <code value="642691"/>
        <display value="Fragile X-associated primary ovarian insufficiency"/>
      </concept>
      <concept>
        <code value="642747"/>
        <display value="PUM1-related cerebellar ataxia"/>
      </concept>
      <concept>
        <code value="642763"/>
        <display
                 value="Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation"/>
      </concept>
      <concept>
        <code value="642788"/>
        <display
                 value="Cushing syndrome due to cortisol-producing adrenocortical adenoma"/>
      </concept>
      <concept>
        <code value="642945"/>
        <display value="Perrault syndrome type 1"/>
      </concept>
      <concept>
        <code value="642954"/>
        <display value="Autosomal recessive ataxia due to PEX16 deficiency"/>
      </concept>
      <concept>
        <code value="642965"/>
        <display value="Autosomal recessive ataxia due to PEX2 deficiency"/>
      </concept>
      <concept>
        <code value="642976"/>
        <display value="Perrault syndrome type 2"/>
      </concept>
      <concept>
        <code value="643503"/>
        <display
                 value="Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome"/>
      </concept>
      <concept>
        <code value="643538"/>
        <display value="Hao-Fountain syndrome due to USP7 mutation"/>
      </concept>
      <concept>
        <code value="643549"/>
        <display value="Hao-Fountain syndrome"/>
      </concept>
      <concept>
        <code value="645188"/>
        <display value="Spinal dermal sinus"/>
      </concept>
      <concept>
        <code value="645285"/>
        <display value="Chaotic conus spinal cord lipoma"/>
      </concept>
      <concept>
        <code value="645288"/>
        <display value="Terminal extramedullary conus spinal cord lipoma"/>
      </concept>
      <concept>
        <code value="645291"/>
        <display
                 value="Transitional extramedullary conus spinal cord lipoma"/>
      </concept>
      <concept>
        <code value="645294"/>
        <display value="Posterior extramedullary conus spinal cord lipoma"/>
      </concept>
      <concept>
        <code value="645297"/>
        <display value="Extramedullary conus spinal cord lipoma"/>
      </concept>
      <concept>
        <code value="645300"/>
        <display value="Lipomatous non-saccular limited dorsal myeloschisis"/>
      </concept>
      <concept>
        <code value="645310"/>
        <display
                 value="Fibroneural non-saccular limited dorsal myeloschisis"/>
      </concept>
      <concept>
        <code value="645322"/>
        <display value="Isolated transitional filum lipoma"/>
      </concept>
      <concept>
        <code value="645325"/>
        <display value="Isolated filum lipoma"/>
      </concept>
      <concept>
        <code value="645334"/>
        <display value="Retained medullary cord"/>
      </concept>
      <concept>
        <code value="645337"/>
        <display value="Terminal myelocystocele"/>
      </concept>
      <concept>
        <code value="645340"/>
        <display value="Non-terminal myelocystocele"/>
      </concept>
      <concept>
        <code value="645343"/>
        <display value="Non-saccular limited dorsal myeloschisis"/>
      </concept>
      <concept>
        <code value="645350"/>
        <display value="Segmental arterial mediolysis"/>
      </concept>
      <concept>
        <code value="645354"/>
        <display value="Saccular limited dorsal myeloschisis"/>
      </concept>
      <concept>
        <code value="645359"/>
        <display value="Intramedullary non-dysraphic spinal cord lipoma"/>
      </concept>
      <concept>
        <code value="645362"/>
        <display value="Dorsal spinal cord lipoma"/>
      </concept>
      <concept>
        <code value="645378"/>
        <display value="Myelic limited dorsal malformation"/>
      </concept>
      <concept>
        <code value="645383"/>
        <display value="True myelomeningocele"/>
      </concept>
      <concept>
        <code value="645388"/>
        <display value="Hemi-myelomeningocele"/>
      </concept>
      <concept>
        <code value="645393"/>
        <display value="Hemi-myeloschisis"/>
      </concept>
      <concept>
        <code value="645398"/>
        <display value="Myeloschisis"/>
      </concept>
      <concept>
        <code value="645401"/>
        <display value="True myeloschisis"/>
      </concept>
      <concept>
        <code value="645613"/>
        <display value="Classical dermatomyositis"/>
      </concept>
      <concept>
        <code value="645617"/>
        <display value="Amyopathic dermatomyositis"/>
      </concept>
      <concept>
        <code value="645626"/>
        <display value="Adermatopathic dermatomyositis"/>
      </concept>
      <concept>
        <code value="645749"/>
        <display value="Congenital esophageal stenosis"/>
      </concept>
      <concept>
        <code value="645793"/>
        <display value="Spontaneous intestinal perforation"/>
      </concept>
      <concept>
        <code value="645807"/>
        <display value="Primary tuberculous lymphadenitis"/>
      </concept>
      <concept>
        <code value="645814"/>
        <display value="Primary pulmonary tuberculosis"/>
      </concept>
      <concept>
        <code value="645822"/>
        <display value="Primary bone and joint tuberculosis"/>
      </concept>
      <concept>
        <code value="645849"/>
        <display value="Primary cutaneous tuberculosis"/>
      </concept>
      <concept>
        <code value="645854"/>
        <display value="Multifocal tuberculosis"/>
      </concept>
      <concept>
        <code value="645859"/>
        <display value="Primary tuberculosis of the digestive system"/>
      </concept>
      <concept>
        <code value="645874"/>
        <display value="Primary genito-urinary tuberculosis"/>
      </concept>
      <concept>
        <code value="646113"/>
        <display value="Intermediate collagen VI-related muscular dystrophy"/>
      </concept>
      <concept>
        <code value="646136"/>
        <display value="Dysplastic cortical hyperostosis, Al-Gazali type"/>
      </concept>
      <concept>
        <code value="646139"/>
        <display value="Dysplastic cortical hyperostosis"/>
      </concept>
      <concept>
        <code value="646278"/>
        <display
                 value="CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome"/>
      </concept>
      <concept>
        <code value="647667"/>
        <display value="Mandibuloacral dysplasia associated to MTX2"/>
      </concept>
      <concept>
        <code value="647676"/>
        <display value="Multiple epiphyseal dysplasia type 7"/>
      </concept>
      <concept>
        <code value="647681"/>
        <display
                 value="Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome"/>
      </concept>
      <concept>
        <code value="647772"/>
        <display
                 value="Isolated primary pigmented nodular adrenocortical disease"/>
      </concept>
      <concept>
        <code value="647782"/>
        <display value="Isolated micronodular adrenocortical disease"/>
      </concept>
      <concept>
        <code value="647788"/>
        <display
                 value="Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome"/>
      </concept>
      <concept>
        <code value="647794"/>
        <display value="Isolated persistent urogenital sinus"/>
      </concept>
      <concept>
        <code value="647799"/>
        <display
                 value="MYT1L-related developmental delay-intellectual disability-obesity syndrome"/>
      </concept>
      <concept>
        <code value="647804"/>
        <display value="Combined immunodeficiency due to FCHO1 deficiency"/>
      </concept>
      <concept>
        <code value="647811"/>
        <display value="Cardiac-urogenital syndrome"/>
      </concept>
      <concept>
        <code value="647815"/>
        <display value="Keratitis fugax hereditaria"/>
      </concept>
      <concept>
        <code value="647823"/>
        <display value="Idiopathic pregnancy-associated osteoporosis"/>
      </concept>
      <concept>
        <code value="647834"/>
        <display value="SLC40A1-related hemochromatosis"/>
      </concept>
      <concept>
        <code value="647916"/>
        <display value="Conjoined twins"/>
      </concept>
      <concept>
        <code value="648562"/>
        <display value="Ferroportin disease"/>
      </concept>
      <concept>
        <code value="648581"/>
        <display value="Digenic hemochromatosis"/>
      </concept>
      <concept>
        <code value="648665"/>
        <display value="Infectious scleritis"/>
      </concept>
      <concept>
        <code value="648675"/>
        <display value="Idiopathic scleritis"/>
      </concept>
      <concept>
        <code value="648681"/>
        <display value="Immune-mediated scleritis"/>
      </concept>
      <concept>
        <code value="648684"/>
        <display value="Central retinal artery occlusion"/>
      </concept>
      <concept>
        <code value="648919"/>
        <display value="Idiopathic catatonia"/>
      </concept>
      <concept>
        <code value="648992"/>
        <display value="Non-syndromic bridging bronchus"/>
      </concept>
      <concept>
        <code value="649010"/>
        <display value="Non-syndromic congenital bronchial atresia"/>
      </concept>
      <concept>
        <code value="649029"/>
        <display value="Isolated left bronchial isomerism"/>
      </concept>
      <concept>
        <code value="650077"/>
        <display value="Genetic central precocious puberty in female"/>
      </concept>
      <concept>
        <code value="650082"/>
        <display value="Secondary central precocious puberty in female"/>
      </concept>
      <concept>
        <code value="650087"/>
        <display value="Primary central precocious puberty in male"/>
      </concept>
      <concept>
        <code value="650092"/>
        <display value="Secondary central precocious puberty in male"/>
      </concept>
      <concept>
        <code value="650097"/>
        <display value="Genetic central precocious puberty in male"/>
      </concept>
      <concept>
        <code value="650102"/>
        <display value="Non-genetic central precocious puberty in male"/>
      </concept>
      <concept>
        <code value="652487"/>
        <display
                 value="Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome"/>
      </concept>
      <concept>
        <code value="652514"/>
        <display
                 value="Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation"/>
      </concept>
      <concept>
        <code value="652519"/>
        <display
                 value="Cleft palate-congenital heart defect-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="652522"/>
        <display
                 value="Periodic fever-immunodeficiency-thrombocytopenia syndrome"/>
      </concept>
      <concept>
        <code value="652528"/>
        <display value="Non-syndromic supernumerary kidneys"/>
      </concept>
      <concept>
        <code value="652532"/>
        <display
                 value="Adult-onset progressive leukoencephalopathy-early-onset deafness"/>
      </concept>
      <concept>
        <code value="652650"/>
        <display
                 value="Nodal T-follicular helper cell lymphoma, follicular type"/>
      </concept>
      <concept>
        <code value="652658"/>
        <display
                 value="Monomorphic epitheliotropic intestinal T-cell lymphoma"/>
      </concept>
      <concept>
        <code value="652668"/>
        <display value="Primary superior vena cava aneurysm"/>
      </concept>
      <concept>
        <code value="652678"/>
        <display value="Primary inferior vena cava aneurysm"/>
      </concept>
      <concept>
        <code value="652681"/>
        <display value="Idiopathic subglottic stenosis"/>
      </concept>
      <concept>
        <code value="653698"/>
        <display value="Lymphocytic mastitis"/>
      </concept>
      <concept>
        <code value="653709"/>
        <display value="Cone rod dystrophy-short stature syndrome"/>
      </concept>
      <concept>
        <code value="653712"/>
        <display value="CHD4-related neurodevelopmental disorder"/>
      </concept>
      <concept>
        <code value="653722"/>
        <display value="Digenic Alport syndrome"/>
      </concept>
      <concept>
        <code value="653725"/>
        <display
                 value="Autosomal recessive limb-girdle muscular dystrophy, type 28"/>
      </concept>
      <concept>
        <code value="653728"/>
        <display
                 value="Congenital insensitivity to pain syndrome, Marsili type"/>
      </concept>
      <concept>
        <code value="653751"/>
        <display
                 value="X-linked combined immunodeficiency due to SASH3 deficiency"/>
      </concept>
      <concept>
        <code value="653767"/>
        <display value="Jansen-de Vries syndrome"/>
      </concept>
      <concept>
        <code value="653880"/>
        <display
                 value="Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency"/>
      </concept>
      <concept>
        <code value="656071"/>
        <display value="Atrophic papulosis"/>
      </concept>
      <concept>
        <code value="656085"/>
        <display value="Benign atrophic papulosis"/>
      </concept>
      <concept>
        <code value="656126"/>
        <display value="Segmental spinal dysgenesis"/>
      </concept>
      <concept>
        <code value="656130"/>
        <display
                 value="PBX1-related congenital anomalies of kidney and urinary tract syndrome"/>
      </concept>
      <concept>
        <code value="656135"/>
        <display value="Intellectual disability-cupped ears syndrome"/>
      </concept>
      <concept>
        <code value="656279"/>
        <display value="1p36.33 duplication syndrome"/>
      </concept>
      <concept>
        <code value="656283"/>
        <display
                 value="Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency"/>
      </concept>
      <concept>
        <code value="656300"/>
        <display
                 value="Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency"/>
      </concept>
      <concept>
        <code value="656313"/>
        <display
                 value="Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency"/>
      </concept>
      <concept>
        <code value="656326"/>
        <display
                 value="Autosomal recessive combined immunodeficiency due to IL6R deficiency"/>
      </concept>
      <concept>
        <code value="656417"/>
        <display value="Embryonal tumor with multilayered rosettes"/>
      </concept>
      <concept>
        <code value="656912"/>
        <display
                 value="Autosomal dominant combined immunodeficiency due to ERBIN deficiency"/>
      </concept>
      <concept>
        <code value="658540"/>
        <display value="16q22 deletion syndrome"/>
      </concept>
      <concept>
        <code value="658549"/>
        <display value="Idiopathic small fibers neuropathy"/>
      </concept>
      <concept>
        <code value="658574"/>
        <display value="Isolated pulmonary artery sling"/>
      </concept>
      <concept>
        <code value="658584"/>
        <display value="Rowell syndrome"/>
      </concept>
      <concept>
        <code value="658590"/>
        <display value="Eyelid sebaceous carcinoma"/>
      </concept>
      <concept>
        <code value="658595"/>
        <display value="DNMT3A-related microcephalic dwarfism"/>
      </concept>
      <concept>
        <code value="658602"/>
        <display value="Transplant-related bronchiolitis obliterans"/>
      </concept>
      <concept>
        <code value="658612"/>
        <display value="Non-transplant-related bronchiolitis obliterans"/>
      </concept>
      <concept>
        <code value="658778"/>
        <display value="COQ7-related distal hereditary motor neuropathy"/>
      </concept>
      <concept>
        <code value="658805"/>
        <display
                 value="Greig cephalopolysyndactyly-contiguous gene syndrome"/>
      </concept>
      <concept>
        <code value="658810"/>
        <display value="Atrophoderma of Pasini and Pierini"/>
      </concept>
      <concept>
        <code value="658813"/>
        <display
                 value="Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency"/>
      </concept>
      <concept>
        <code value="658843"/>
        <display
                 value="Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="658909"/>
        <display value="Fasciolopsiasis"/>
      </concept>
      <concept>
        <code value="658913"/>
        <display value="Paragonimiasis"/>
      </concept>
      <concept>
        <code value="658917"/>
        <display value="Clonorchiasis"/>
      </concept>
      <concept>
        <code value="658946"/>
        <display
                 value="Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency"/>
      </concept>
      <concept>
        <code value="658951"/>
        <display
                 value="Early-onset immune dysregulation due to DOCK11 complete deficiency"/>
      </concept>
      <concept>
        <code value="659396"/>
        <display value="Cohen-Gibson syndrome"/>
      </concept>
      <concept>
        <code value="659463"/>
        <display value="Imagawa-Matsumoto syndrome"/>
      </concept>
      <concept>
        <code value="659609"/>
        <display
                 value="Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome"/>
      </concept>
      <concept>
        <code value="659626"/>
        <display value="Single isolated optic neuritis"/>
      </concept>
      <concept>
        <code value="659634"/>
        <display value="Relapsing isolated optic neuritis"/>
      </concept>
      <concept>
        <code value="659642"/>
        <display value="Rauch-Steindl syndrome"/>
      </concept>
      <concept>
        <code value="659672"/>
        <display value="Harderoporphyria"/>
      </concept>
      <concept>
        <code value="659702"/>
        <display
                 value="Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome"/>
      </concept>
      <concept>
        <code value="659707"/>
        <display value="Yersinia pseudotuberculosis infection"/>
      </concept>
      <concept>
        <code value="659744"/>
        <display value="Ocular surface squamous neoplasia"/>
      </concept>
      <concept>
        <code value="659756"/>
        <display value="Oroya fever"/>
      </concept>
      <concept>
        <code value="659759"/>
        <display value="Verruga peruana"/>
      </concept>
      <concept>
        <code value="659873"/>
        <display
                 value="Wormian bones-micrognathia-abnormal dentition-progeroid syndrome"/>
      </concept>
      <concept>
        <code value="659904"/>
        <display
                 value="Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome"/>
      </concept>
      <concept>
        <code value="659908"/>
        <display value="Glanders"/>
      </concept>
      <concept>
        <code value="659975"/>
        <display
                 value="Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="660012"/>
        <display
                 value="Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation"/>
      </concept>
      <concept>
        <code value="660017"/>
        <display
                 value="Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome"/>
      </concept>
      <concept>
        <code value="660021"/>
        <display
                 value="Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="660053"/>
        <display value="Psittacosis"/>
      </concept>
      <concept>
        <code value="661412"/>
        <display
                 value="Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency"/>
      </concept>
      <concept>
        <code value="661526"/>
        <display value="MBD4-related tumor predisposition syndrome"/>
      </concept>
      <concept>
        <code value="662169"/>
        <display value="Phelan-McDermid syndrome due to 22q13.3 deletion"/>
      </concept>
      <concept>
        <code value="662172"/>
        <display value="Phelan-McDermid syndrome due to SHANK3 mutation"/>
      </concept>
      <concept>
        <code value="662175"/>
        <display
                 value="Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="662179"/>
        <display
                 value="Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="662184"/>
        <display
                 value="Congenital muscular dystrophy-cataract-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="662189"/>
        <display
                 value="Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome"/>
      </concept>
      <concept>
        <code value="662198"/>
        <display
                 value="Neurodevelopmental delay-intellectual disability-skeletal defects syndrome"/>
      </concept>
      <concept>
        <code value="662207"/>
        <display
                 value="Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="662216"/>
        <display value="Mucopolysaccharidosis type 10"/>
      </concept>
      <concept>
        <code value="662229"/>
        <display value="Episodic memory defect leukoencephalopathy"/>
      </concept>
      <concept>
        <code value="662234"/>
        <display
                 value="Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="662240"/>
        <display value="Frey syndrome"/>
      </concept>
      <concept>
        <code value="662255"/>
        <display value="Grisel syndrome"/>
      </concept>
      <concept>
        <code value="662367"/>
        <display value="NESCAV syndrome"/>
      </concept>
      <concept>
        <code value="662376"/>
        <display value="Gastric duplication"/>
      </concept>
      <concept>
        <code value="662388"/>
        <display value="Gallbladder duplication"/>
      </concept>
      <concept>
        <code value="662392"/>
        <display value="Colonic duplication"/>
      </concept>
      <concept>
        <code value="662405"/>
        <display value="Pyloric duplication"/>
      </concept>
      <concept>
        <code value="662456"/>
        <display value="Small intestine duplication"/>
      </concept>
      <concept>
        <code value="662473"/>
        <display value="Duodenal duplication"/>
      </concept>
      <concept>
        <code value="662480"/>
        <display value="Jujeno-ileal duplication"/>
      </concept>
      <concept>
        <code value="662721"/>
        <display value="Placenta accreta spectrum disorder"/>
      </concept>
      <concept>
        <code value="662762"/>
        <display
                 value="Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome"/>
      </concept>
      <concept>
        <code value="662786"/>
        <display value="Vasa previa"/>
      </concept>
      <concept>
        <code value="662829"/>
        <display
                 value="Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome"/>
      </concept>
      <concept>
        <code value="662934"/>
        <display value="Acute megakaryoblastic leukemia in adult"/>
      </concept>
      <concept>
        <code value="664372"/>
        <display value="Soft and hard cleft palate"/>
      </concept>
      <concept>
        <code value="664377"/>
        <display value="MGP-related spondyloepiphyseal dysplasia"/>
      </concept>
      <concept>
        <code value="664401"/>
        <display
                 value="Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation"/>
      </concept>
      <concept>
        <code value="664404"/>
        <display value="6q25.1 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="664410"/>
        <display
                 value="Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="664416"/>
        <display
                 value="Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation"/>
      </concept>
      <concept>
        <code value="664430"/>
        <display
                 value="Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="664438"/>
        <display
                 value="Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="664500"/>
        <display value="Hermansky-Pudlak syndrome due to AP3B1 deficiency"/>
      </concept>
      <concept>
        <code value="664511"/>
        <display
                 value="Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency"/>
      </concept>
      <concept>
        <code value="664699"/>
        <display
                 value="EBV-induced lymphoproliferative disease due to RASGRP1 deficiency"/>
      </concept>
      <concept>
        <code value="664711"/>
        <display
                 value="EBV-induced lymphoproliferative disease due to PRKCD deficiency"/>
      </concept>
      <concept>
        <code value="664726"/>
        <display
                 value="EBV-induced lymphoproliferative disease due to CD137 deficiency"/>
      </concept>
      <concept>
        <code value="664729"/>
        <display
                 value="EBV-induced lymphoproliferative disease due to TET2 deficiency"/>
      </concept>
      <concept>
        <code value="664787"/>
        <display value="Nicolau syndrome"/>
      </concept>
      <concept>
        <code value="664901"/>
        <display value="Trigeminal trophic syndrome"/>
      </concept>
      <concept>
        <code value="664912"/>
        <display value="Neonatal renal venous thrombosis"/>
      </concept>
      <concept>
        <code value="664923"/>
        <display
                 value="Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome"/>
      </concept>
      <concept>
        <code value="665044"/>
        <display value="Common arterial trunk with aortic dominance"/>
      </concept>
      <concept>
        <code value="665058"/>
        <display
                 value="Common arterial trunk with pulmonary dominance and interrupted aortic arch"/>
      </concept>
      <concept>
        <code value="667589"/>
        <display value="Isolated congenital femoral bifurcation"/>
      </concept>
      <concept>
        <code value="667662"/>
        <display
                 value="Breast implant-associated anaplastic large cell lymphoma"/>
      </concept>
      <concept>
        <code value="667678"/>
        <display value="Intraoral basal cell carcinoma"/>
      </concept>
      <concept>
        <code value="672979"/>
        <display
                 value="Craniosynostosis-facial dysmorphism-brachydactyly syndrome"/>
      </concept>
      <concept>
        <code value="672985"/>
        <display
                 value="Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome"/>
      </concept>
      <concept>
        <code value="673525"/>
        <display value="Intravascular papillary endothelial hyperplasia"/>
      </concept>
      <concept>
        <code value="673538"/>
        <display value="Littoral cell hemangioma of the spleen"/>
      </concept>
      <concept>
        <code value="673543"/>
        <display value="Papillary hemangioma"/>
      </concept>
      <concept>
        <code value="673556"/>
        <display value="Pseudomyogenic hemangioendothelioma"/>
      </concept>
      <concept>
        <code value="673568"/>
        <display value="Eccrine angiomatous hamartoma"/>
      </concept>
      <concept>
        <code value="673574"/>
        <display value="Reactive angioendotheliomatosis"/>
      </concept>
      <concept>
        <code value="673580"/>
        <display value="Classic pilocytic astrocytoma"/>
      </concept>
      <concept>
        <code value="673585"/>
        <display
                 value="Pilocytic astrocytoma with histological features of anaplasia"/>
      </concept>
      <concept>
        <code value="674653"/>
        <display
                 value="Actinomyopathy-associated syndromic thrombocytopenia"/>
      </concept>
      <concept>
        <code value="674762"/>
        <display
                 value="Early-onset autoinflammatory syndrome due to A20 haploinsufficiency"/>
      </concept>
      <concept>
        <code value="674924"/>
        <display value="Isolated retinal racemose hemangioma"/>
      </concept>
      <concept>
        <code value="674930"/>
        <display value="Perifoveal exudative vascular anomalous complex"/>
      </concept>
      <concept>
        <code value="674935"/>
        <display value="Torpedo Maculopathy"/>
      </concept>
      <concept>
        <code value="674943"/>
        <display value="Isolated angioid streaks"/>
      </concept>
      <concept>
        <code value="674947"/>
        <display value="Diffuse unilateral subacute neuroretinitis"/>
      </concept>
      <concept>
        <code value="674953"/>
        <display value="Multiple evanescent white dot syndrome"/>
      </concept>
      <concept>
        <code value="674958"/>
        <display value="Stellate multiform amelanotic choroidopathy"/>
      </concept>
      <concept>
        <code value="674965"/>
        <display value="Choroidal osteoma"/>
      </concept>
      <concept>
        <code value="674968"/>
        <display
                 value="Bilateral diffuse uveal melanocytic proliferation disease"/>
      </concept>
      <concept>
        <code value="675216"/>
        <display value="Spinocerebellar ataxia type 27B"/>
      </concept>
      <concept>
        <code value="675359"/>
        <display value="Anastomosing haemangioma"/>
      </concept>
      <concept>
        <code value="675362"/>
        <display value="Hobnail hemangioma"/>
      </concept>
      <concept>
        <code value="675369"/>
        <display value="Microvenular haemangioma"/>
      </concept>
      <concept>
        <code value="675380"/>
        <display value="Isolated segmental infantile hemangioma"/>
      </concept>
      <concept>
        <code value="675396"/>
        <display value="Epithelioid hemangioma"/>
      </concept>
      <concept>
        <code value="675404"/>
        <display value="May-Thurner syndrome"/>
      </concept>
      <concept>
        <code value="675597"/>
        <display value="Acquired elastotic haemangioma"/>
      </concept>
      <concept>
        <code value="675628"/>
        <display
                 value="TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome"/>
      </concept>
      <concept>
        <code value="675767"/>
        <display
                 value="Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency"/>
      </concept>
      <concept>
        <code value="675775"/>
        <display
                 value="Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome"/>
      </concept>
      <concept>
        <code value="675782"/>
        <display
                 value="Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN"/>
      </concept>
      <concept>
        <code value="675814"/>
        <display value="Adenomatoid tumour of the pleura"/>
      </concept>
      <concept>
        <code value="675822"/>
        <display
                 value="Well-differentiated papillary mesothelial tumour of the pleura"/>
      </concept>
      <concept>
        <code value="675833"/>
        <display value="Localized pleural mesothelioma"/>
      </concept>
      <concept>
        <code value="675837"/>
        <display value="Diffused pleural mesothelioma"/>
      </concept>
      <concept>
        <code value="675841"/>
        <display value="Pleural mesothelioma in situ"/>
      </concept>
      <concept>
        <code value="675976"/>
        <display value="Adenomatoid tumour of the peritoneum"/>
      </concept>
      <concept>
        <code value="676033"/>
        <display
                 value="Well-differentiated papillary mesothelial tumour of the peritoneum"/>
      </concept>
      <concept>
        <code value="676036"/>
        <display value="Peritoneal mesothelioma in situ"/>
      </concept>
      <concept>
        <code value="676039"/>
        <display
                 value="Combined immunodeficiency due to FOXN1 haploinsufficiency"/>
      </concept>
      <concept>
        <code value="676125"/>
        <display
                 value="X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency"/>
      </concept>
    </include>
  </compose>
</ValueSet>