eHDSI Rare Disease - XML Representation - MyHealth@Eu Laboratory Report v0.0.1

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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"><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>10</td><td>48,XXYY syndrome</td></tr><tr><td>100</td><td>Ataxia-telangiectasia</td></tr><tr><td>1000</td><td>Ocular albinism with late-onset sensorineural deafness</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>Refractory anemia with excess blasts type 1</td></tr><tr><td>100020</td><td>Refractory anemia with excess 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>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>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>101</td><td>Dentatorubral pallidoluysian atrophy</td></tr><tr><td>1010</td><td>Autosomal dominant palmoplantar keratoderma and congenital alopecia</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>101096</td><td>Aregenerative anemia</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>1014</td><td>Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome</td></tr><tr><td>101685</td><td>Rare non-syndromic intellectual disability</td></tr><tr><td>1018</td><td>X-linked Alport syndrome-diffuse leiomyomatosis</td></tr><tr><td>101932</td><td>Anomaly of the mitral subvalvular apparatus</td></tr><tr><td>102</td><td>Multiple system atrophy</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>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>1027</td><td>Autosomal recessive amelia</td></tr><tr><td>102724</td><td>Acute myeloid leukemia with t(8;21)(q22;q22) translocation</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>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>104</td><td>Leber hereditary optic neuropathy</td></tr><tr><td>1040</td><td>Metaphyseal anadysplasia</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>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>105</td><td>Atresia of urethra</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>107</td><td>BOR 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>108</td><td>Babesiosis</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>109</td><td>Bannayan-Riley-Ruvalcaba syndrome</td></tr><tr><td>1094</td><td>Anonychia-microcephaly syndrome</td></tr><tr><td>11</td><td>Pentasomy X</td></tr><tr><td>110</td><td>Bardet-Biedl 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>111</td><td>Barth syndrome</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>112</td><td>Bartter 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>113</td><td>Bazex-Dupré-Christol 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>114</td><td>Auriculoosteodysplasia</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>115</td><td>Congenital contractural arachnodactyly</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>116</td><td>Beckwith-Wiedemann syndrome</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>117</td><td>Behçet disease</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>118</td><td>Beta-mannosidosis</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>119</td><td>Beta-sarcoglycan-related limb-girdle muscular dystrophy R4</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>122</td><td>Birt-Hogg-Dubé 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>123</td><td>Björnstad 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>124</td><td>Diamond-Blackfan anemia</td></tr><tr><td>1240</td><td>Metaphyseal acroscyphodysplasia</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>125</td><td>Bloom syndrome</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>126</td><td>Blepharophimosis-ptosis-epicanthus inversus 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>127</td><td>Borjeson-Forssman-Lehmann syndrome</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>128</td><td>Diphyllobothriasis</td></tr><tr><td>129</td><td>Pseudopelade of Brocq</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>13</td><td>6-pyruvoyl-tetrahydropterin synthase deficiency</td></tr><tr><td>130</td><td>Brugada 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>1303</td><td>Bronchiolitis obliterans with obstructive pulmonary disease</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>131</td><td>Budd-Chiari syndrome</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>132</td><td>Butyrylcholinesterase deficiency</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>133</td><td>Chronic beryllium disease</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>134</td><td>Beta-ketothiolase deficiency</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>135</td><td>CACH syndrome</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>136</td><td>Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy</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>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>1377</td><td>Cataract-microcornea syndrome</td></tr><tr><td>137754</td><td>Neurological conditions associated with 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>Laryngotracheal angioma</td></tr><tr><td>138</td><td>CHARGE 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>139</td><td>CHILD 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>139396</td><td>X-linked cerebral adrenoleukodystrophy</td></tr><tr><td>139399</td><td>Adrenomyeloneuropathy</td></tr><tr><td>1394</td><td>Cerebrofaciothoracic dysplasia</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>Jeavons syndrome</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>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>14</td><td>Abetalipoproteinemia</td></tr><tr><td>140</td><td>Campomelic dysplasia</td></tr><tr><td>1401</td><td>CHAND syndrome</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>1406</td><td>Charlie M syndrome</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>141</td><td>Canavan disease</td></tr><tr><td>1410</td><td>Uncombable hair syndrome</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>1412</td><td>Tarsal-carpal coalition syndrome</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>141327</td><td>Orofaciodigital syndrome type 12</td></tr><tr><td>141330</td><td>Orofaciodigital syndrome type 13</td></tr><tr><td>141333</td><td>Biemond syndrome type 2</td></tr><tr><td>1414</td><td>Cholestasis-lymphedema syndrome</td></tr><tr><td>1415</td><td>Cholestasis-pigmentary retinopathy-cleft palate syndrome</td></tr><tr><td>1416</td><td>Familial calcium pyrophosphate deposition</td></tr><tr><td>142</td><td>Anaplastic thyroid carcinoma</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>143</td><td>Parathyroid carcinoma</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>144</td><td>Lynch 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>145</td><td>Hereditary breast and/or ovarian cancer 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>1455</td><td>Autosomal dominant coarctation of aorta</td></tr><tr><td>1456</td><td>Atypical coarctation of aorta</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>146</td><td>Differentiated thyroid carcinoma</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>147</td><td>Carbamoyl-phosphate synthetase 1 deficiency</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>15</td><td>Achondroplasia</td></tr><tr><td>150</td><td>Nasopharyngeal carcinoma</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>154</td><td>Familial isolated dilated cardiomyopathy</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>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>156</td><td>Carnitine palmitoyl transferase 1A deficiency</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>1562</td><td>Dacryocystitis-osteopoikilosis syndrome</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>156728</td><td>Spondyloepimetaphyseal dysplasia, matrilin-3 type</td></tr><tr><td>156731</td><td>Dyssegmental dysplasia, Rolland-Desbuquois type</td></tr><tr><td>1568</td><td>X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome</td></tr><tr><td>157</td><td>Carnitine palmitoyltransferase II deficiency</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>157215</td><td>Hereditary hypophosphatemic rickets with hypercalciuria</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>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>1578</td><td>Pterin-4 alpha-carbinolamine dehydratase deficiency</td></tr><tr><td>157801</td><td>Mesoaxial synostotic syndactyly with phalangeal reduction</td></tr><tr><td>157808</td><td>Congenital 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>158</td><td>Systemic primary carnitine deficiency</td></tr><tr><td>1580</td><td>Distal deletion 10p</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>1581</td><td>Non-distal deletion 10q</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>1587</td><td>Monosomy 13q14</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>159</td><td>Carnitine-acylcarnitine translocase deficiency</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>16</td><td>Blue cone monochromatism</td></tr><tr><td>160</td><td>Castleman disease</td></tr><tr><td>1600</td><td>Monosomy 18q</td></tr><tr><td>160148</td><td>Cap polyposis</td></tr><tr><td>1606</td><td>1p36 deletion syndrome</td></tr><tr><td>1617</td><td>2q24 microdeletion syndrome</td></tr><tr><td>162</td><td>Cataract-glaucoma syndrome</td></tr><tr><td>1620</td><td>Distal deletion 3p</td></tr><tr><td>1621</td><td>3q13 microdeletion syndrome</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>1627</td><td>Deletion 5q35</td></tr><tr><td>163</td><td>Hereditary hyperferritinemia-cataract syndrome</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>1636</td><td>Distal monosomy 7q36</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>1642</td><td>Distal deletion 9p</td></tr><tr><td>1643</td><td>Xp22.3 microdeletion syndrome</td></tr><tr><td>1646</td><td>Partial chromosome Y deletion</td></tr><tr><td>1647</td><td>Oculocerebrocutaneous 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>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>165805</td><td>Familial mesial temporal lobe epilepsy with febrile seizures</td></tr><tr><td>1659</td><td>Dermatoleukodystrophy</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>1660</td><td>Dermoodontodysplasia</td></tr><tr><td>166002</td><td>Multiple epiphyseal dysplasia due to collagen 9 anomaly</td></tr><tr><td>166011</td><td>Multiple epiphyseal dysplasia, Beighton type</td></tr><tr><td>166016</td><td>Multiple epiphyseal dysplasia, Lowry type</td></tr><tr><td>166024</td><td>Multiple epiphyseal dysplasia, Al-Gazali type</td></tr><tr><td>166029</td><td>Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia</td></tr><tr><td>166032</td><td>Multiple epiphyseal dysplasia, with miniepiphyses</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>1661</td><td>X-linked corneal dermoid</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>1662</td><td>Restrictive dermopathy</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>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>167</td><td>Chédiak-Higashi 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>167635</td><td>Scleromyxedema</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>168</td><td>Loose anagen syndrome</td></tr><tr><td>1681</td><td>Diprosopus</td></tr><tr><td>1682</td><td>Arterial dissection-lentiginosis syndrome</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>168486</td><td>Congenital neuronal ceroid lipofuscinosis</td></tr><tr><td>168491</td><td>Late infantile neuronal ceroid lipofuscinosis</td></tr><tr><td>1685</td><td>Distomatosis</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>1686</td><td>Cardiac diverticulum</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 cystic mesothelioma</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>169</td><td>Ringed hair disease</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 infection 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>1692</td><td>Mosaic trisomy 1</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>1695</td><td>Non-distal duplication 10q</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>1698</td><td>Mosaic trisomy 12</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>1699</td><td>Trisomy 12p</td></tr><tr><td>17</td><td>Fatal infantile lactic acidosis with methylmalonic aciduria</td></tr><tr><td>170</td><td>Woolly hair</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>171</td><td>Primary sclerosing cholangitis</td></tr><tr><td>1711</td><td>Mosaic trisomy 17</td></tr><tr><td>171220</td><td>Rectal duplication</td></tr><tr><td>1713</td><td>17p11.2 microduplication syndrome</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>1715</td><td>Trisomy 18p</td></tr><tr><td>1716</td><td>Distal duplication 18q</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>1717</td><td>Distal duplication 19q</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>172</td><td>Progressive familial intrahepatic cholestasis</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>173</td><td>Cholera</td></tr><tr><td>1738</td><td>Trisomy 4p</td></tr><tr><td>174</td><td>Metaphyseal chondrodysplasia, Schmid type</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>175</td><td>Cartilage-hair hypoplasia</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>1765</td><td>Dyschondrosteosis-nephritis syndrome</td></tr><tr><td>1766</td><td>Dysequilibrium syndrome</td></tr><tr><td>1768</td><td>Familial caudal dysgenesis</td></tr><tr><td>177</td><td>Rhizomelic chondrodysplasia punctata</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>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>178</td><td>Chordoma</td></tr><tr><td>1780</td><td>Thakker-Donnai syndrome</td></tr><tr><td>178029</td><td>Central diabetes insipidus</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>1782</td><td>Dysosteosclerosis</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>1784</td><td>Acrofrontofacionasal dysostosis</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>178493</td><td>Myopic macular degeneration</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>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>179</td><td>Birdshot chorioretinopathy</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>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>1795</td><td>Peripheral dysostosis</td></tr><tr><td>1797</td><td>Autosomal dominant spondylocostal dysostosis</td></tr><tr><td>1798</td><td>Dysostosis, Stanescu type</td></tr><tr><td>1799</td><td>Familial developmental dysphasia</td></tr><tr><td>18</td><td>Distal renal tubular acidosis</td></tr><tr><td>180</td><td>Choroideremia</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>1801</td><td>Kyphomelic dysplasia</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>1802</td><td>Ghosal hematodiaphyseal dysplasia</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>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>181</td><td>X-linked hypohidrotic ectodermal dysplasia</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>182</td><td>Chromomycosis</td></tr><tr><td>182050</td><td>MYH9-related disease</td></tr><tr><td>182127</td><td>Extragonadal germinoma</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>183</td><td>Eosinophilic granulomatosis with polyangiitis</td></tr><tr><td>1830</td><td>Schimke immuno-osseous dysplasia</td></tr><tr><td>1832</td><td>Lethal 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>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>1837</td><td>Ulna metaphyseal dysplasia syndrome</td></tr><tr><td>183707</td><td>Neutrophil immunodeficiency syndrome</td></tr><tr><td>183713</td><td>Bacterial susceptibility due to TLR signaling pathway deficiency</td></tr><tr><td>1839</td><td>Hereditary mucoepithelial dysplasia</td></tr><tr><td>184</td><td>Cherubism</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>185</td><td>Scimitar syndrome</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>186</td><td>Primary biliary cholangitis</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>188</td><td>Systemic capillary leak syndrome</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>189</td><td>Hidrotic ectodermal dysplasia</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>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>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>190</td><td>Coats disease</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>191</td><td>Cockayne syndrome</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>192</td><td>Coffin-Lowry syndrome</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>193</td><td>Cohen syndrome</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>195</td><td>Cat-eye syndrome</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>198</td><td>Occipital horn syndrome</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>Femoral agenesis/hypoplasia</td></tr><tr><td>1988</td><td>Femoral-facial syndrome</td></tr><tr><td>199</td><td>Cornelia de Lange syndrome</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>1993</td><td>Pai syndrome</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>1995</td><td>Cleft lip-retinopathy syndrome</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>1997</td><td>Blepharo-cheilo-odontic syndrome</td></tr><tr><td>20</td><td>3-hydroxy-3-methylglutaric aciduria</td></tr><tr><td>200</td><td>Isolated corpus callosum agenesis</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>200418</td><td>Immunodeficiency with factor I anomaly</td></tr><tr><td>200421</td><td>Immunodeficiency with factor H anomaly</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>201</td><td>Cowden 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>202</td><td>Crandall syndrome</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>204</td><td>Sporadic Creutzfeldt-Jakob disease</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>205</td><td>Crigler-Najjar 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>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>2065</td><td>Galloway-Mowat syndrome</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>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>206991</td><td>Viral myositis</td></tr><tr><td>206994</td><td>Bacterial myositis</td></tr><tr><td>207</td><td>Crouzon syndrome</td></tr><tr><td>2070</td><td>Eosinophilic gastroenteritis</td></tr><tr><td>207000</td><td>Fungal myositis</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>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>2085</td><td>Glaucoma-sleep apnea syndrome</td></tr><tr><td>208513</td><td>Spinocerebellar ataxia type 29</td></tr><tr><td>208524</td><td>Herpetiform pemphigus</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>208989</td><td>Non-paraneoplastic sensory ganglionopathy</td></tr><tr><td>208999</td><td>Paraneoplastic sensory ganglionopathy</td></tr><tr><td>2090</td><td>GMS syndrome</td></tr><tr><td>209004</td><td>Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy</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>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>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>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>210</td><td>Cyclosporiasis</td></tr><tr><td>2101</td><td>Grubben-de Cock-Borghgraef syndrome</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>2102</td><td>GTP cyclohydrolase I deficiency</td></tr><tr><td>210272</td><td>Mal de débarquement</td></tr><tr><td>2104</td><td>Dysmorphism-pectus carinatum-joint laxity syndrome</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>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>211</td><td>Familial cylindromatosis</td></tr><tr><td>2110</td><td>Hallux varus-preaxial polysyndactyly syndrome</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>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>212</td><td>Cystathioninuria</td></tr><tr><td>2122</td><td>Kaposiform hemangioendothelioma</td></tr><tr><td>2123</td><td>Diffuse neonatal hemangiomatosis</td></tr><tr><td>2126</td><td>Solitary fibrous tumor</td></tr><tr><td>2128</td><td>Isolated hemihyperplasia</td></tr><tr><td>213</td><td>Cystinosis</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>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>2136</td><td>Hennekam syndrome</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>2137</td><td>Autoimmune hepatitis</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>2138</td><td>46,XX ovotesticular difference of sex development</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>2139</td><td>Hernández-Aguirre Negrete syndrome</td></tr><tr><td>214</td><td>Cystinuria</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>215</td><td>Congenital stationary night blindness</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>216694</td><td>Congenitally corrected transposition of the great arteries</td></tr><tr><td>2167</td><td>Holzgreve syndrome</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>2169</td><td>Methylcobalamin deficiency type cblE</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>217</td><td>Isolated Dandy-Walker malformation</td></tr><tr><td>2170</td><td>Methylcobalamin deficiency type cblG</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 congenital digital 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>2172</td><td>Microcephaly-glomerulonephritis-marfanoid habitus syndrome</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>2176</td><td>Infantile systemic hyalinosis</td></tr><tr><td>217622</td><td>Sensorineural deafness with dilated cardiomyopathy</td></tr><tr><td>217656</td><td>Familial isolated arrhythmogenic right ventricular dysplasia</td></tr><tr><td>2177</td><td>Hydranencephaly</td></tr><tr><td>218</td><td>Darier disease</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>219</td><td>Delta-sarcoglycan-related limb-girdle muscular dystrophy R6</td></tr><tr><td>2194</td><td>Anti-HLA hyperimmunization</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>22</td><td>Succinic semialdehyde dehydrogenase deficiency</td></tr><tr><td>220</td><td>Denys-Drash syndrome</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>220295</td><td>Xeroderma pigmentosum-Cockayne syndrome complex</td></tr><tr><td>2203</td><td>Hyperlysinemia</td></tr><tr><td>220386</td><td>Semilobar holoprosencephaly</td></tr><tr><td>220393</td><td>Diffuse cutaneous systemic sclerosis</td></tr><tr><td>2204</td><td>Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type</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>2206</td><td>Ankylosing vertebral hyperostosis with tylosis</td></tr><tr><td>2209</td><td>Maternal phenylketonuria</td></tr><tr><td>221</td><td>Dermatomyositis</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>2211</td><td>Hypertelorism-hypospadias-polysyndactyly syndrome</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>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>222</td><td>Erosive pustular dermatosis of the scalp</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>223</td><td>Nephrogenic diabetes insipidus</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>225</td><td>Maternally-inherited diabetes and deafness</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>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>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>226</td><td>Dihydropteridine reductase deficiency</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>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>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>227</td><td>Diphallia</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>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>2278</td><td>Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome</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>2282</td><td>Dysmorphism-short stature-deafness-difference of sex development 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>228340</td><td>CLN4A disease</td></tr><tr><td>228343</td><td>CLN4B 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>228357</td><td>CLN9 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>Polyvalvular heart disease syndrome</td></tr><tr><td>228415</td><td>5q35 microduplication syndrome</td></tr><tr><td>228423</td><td>Monocytopenia with susceptibility to infections</td></tr><tr><td>228426</td><td>Syndromic multisystem autoimmune disease due to Itch deficiency</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>229</td><td>Familial aortic dissection</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>229717</td><td>Isolated agammaglobulinemia</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>23</td><td>Argininosuccinic aciduria</td></tr><tr><td>230</td><td>Dopamine beta-hydroxylase deficiency</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>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>2309</td><td>Pachyonychia congenita</td></tr><tr><td>231</td><td>Dracunculiasis</td></tr><tr><td>2310</td><td>Absence deformity of leg-cataract 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>2311</td><td>Autosomal recessive spondylocostal dysostosis</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>2312</td><td>Transient familial neonatal hyperbilirubinemia</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>2314</td><td>Autosomal dominant hyper-IgE 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>2315</td><td>Johanson-Blizzard syndrome</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>2316</td><td>Johnson neuroectodermal syndrome</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>2318</td><td>Joubert syndrome with oculorenal defect</td></tr><tr><td>2319</td><td>Juberg-Hayward syndrome</td></tr><tr><td>232</td><td>Sickle cell anemia</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>233</td><td>Duane retraction syndrome</td></tr><tr><td>2330</td><td>Kasabach-Merritt syndrome</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>Non-epidermolytic palmoplantar keratoderma</td></tr><tr><td>2339</td><td>Keratosis follicularis-dwarfism-cerebral atrophy syndrome</td></tr><tr><td>234</td><td>Dubin-Johnson 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>235</td><td>Dubowitz 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>236</td><td>Trisomy 9p</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>237</td><td>Duplication of urethra</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>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>238</td><td>Digestive duplication</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>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>2386</td><td>Leukoencephalopathy-palmoplantar keratoderma syndrome</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>2387</td><td>Leukonychia totalis</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>2388</td><td>Choreoacanthocytosis</td></tr><tr><td>239</td><td>Dyggve-Melchior-Clausen disease</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>24</td><td>Fumaric aciduria</td></tr><tr><td>240</td><td>Léri-Weill dyschondrosteosis</td></tr><tr><td>2400</td><td>Peripheral motor neuropathy-dysautonomia syndrome</td></tr><tr><td>240071</td><td>Classic progressive supranuclear palsy syndrome</td></tr><tr><td>240085</td><td>Progressive supranuclear palsy-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>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>240760</td><td>Nijmegen breakage syndrome-like disorder</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>241</td><td>Dyschromatosis universalis hereditaria</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>242</td><td>46,XY complete gonadal dysgenesis</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>243</td><td>46,XX gonadal dysgenesis</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>243343</td><td>Dimethylglycine dehydrogenase deficiency</td></tr><tr><td>243367</td><td>Acute fatty liver of pregnancy</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>244</td><td>Primary ciliary dyskinesia</td></tr><tr><td>2440</td><td>Isolated split hand-split foot malformation</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>2444</td><td>Congenital pulmonary airway malformation</td></tr><tr><td>245</td><td>Nager syndrome</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>246</td><td>Postaxial acrofacial dysostosis</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>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>2473</td><td>McKusick-Kaufman 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>2475</td><td>White forelock with malformations</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>2476</td><td>Dysraphism-cleft lip/palate-limb reduction defects syndrome</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>2477</td><td>Megalencephaly</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>2478</td><td>Megalencephalic leukoencephalopathy with subcortical cysts</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>2479</td><td>Megalocornea-intellectual disability syndrome</td></tr><tr><td>248</td><td>Autosomal recessive hypohidrotic ectodermal dysplasia</td></tr><tr><td>2481</td><td>Neurocutaneous melanocytosis</td></tr><tr><td>248111</td><td>Juvenile Huntington disease</td></tr><tr><td>2482</td><td>Melhem-Fahl syndrome</td></tr><tr><td>2483</td><td>Melkersson-Rosenthal syndrome</td></tr><tr><td>248340</td><td>Isolated delta-storage pool disease</td></tr><tr><td>2484</td><td>Melnick-Needles syndrome</td></tr><tr><td>248408</td><td>Familial hypodysfibrinogenemia</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>249</td><td>Fibrous dysplasia of bone</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</td></tr><tr><td>2498</td><td>Syndactyly type 8</td></tr><tr><td>2499</td><td>Metachondromatosis</td></tr><tr><td>25</td><td>Glutaryl-CoA dehydrogenase deficiency</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>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>2510</td><td>Micro 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 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>2511</td><td>Microbrachycephaly-ptosis-cleft lip syndrome</td></tr><tr><td>2512</td><td>Autosomal recessive primary microcephaly</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>2513</td><td>Microcephaly-albinism-digital anomalies syndrome</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>2514</td><td>Autosomal dominant primary microcephaly</td></tr><tr><td>2515</td><td>Microcephaly-cardiomyopathy syndrome</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>2516</td><td>Microcephaly-cardiac defect-lung malsegmentation syndrome</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>2518</td><td>Autosomal recessive chorioretinopathy-microcephaly syndrome</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>251880</td><td>Ependymoblastoma</td></tr><tr><td>251883</td><td>Medulloepithelioma of the central nervous system</td></tr><tr><td>251899</td><td>Choroid plexus carcinoma</td></tr><tr><td>2519</td><td>Microcephaly-seizures-intellectual disability-heart disease syndrome</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 differenciation</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>2521</td><td>Microcephaly-cleft palate-abnormal retinal pigmentation syndrome</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>2522</td><td>Microcephaly-cervical spine fusion anomalies syndrome</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>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>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>2547</td><td>Microphthalmia-microtia-fetal akinesia syndrome</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>2549</td><td>Oculoauriculovertebral spectrum with radial defects</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>2551</td><td>Microspherophakia-metaphyseal dysplasia syndrome</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>2552</td><td>Microsporidiosis</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>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>256</td><td>Early-onset generalized limb-onset dystonia</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>257</td><td>Epidermolysis bullosa simplex with muscular dystrophy</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>258</td><td>Laminin subunit alpha 2-related congenital muscular dystrophy</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>25968</td><td>Benign occipital epilepsy</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>25980</td><td>X-linked myopathy with excessive autophagy</td></tr><tr><td>26</td><td>Methylmalonic acidemia with homocystinuria</td></tr><tr><td>260305</td><td>Autosomal recessive 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>261</td><td>Emery-Dreifuss muscular dystrophy</td></tr><tr><td>26106</td><td>Hereditary diffuse gastric cancer</td></tr><tr><td>2611</td><td>Linear verrucous nevus syndrome</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>15q14 microdeletion syndrome</td></tr><tr><td>261197</td><td>Proximal 16p11.2 microdeletion syndrome</td></tr><tr><td>2612</td><td>Linear nevus sebaceus 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>2613</td><td>Nail-patella-like renal disease</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>26137</td><td>Juvenile temporal arteritis</td></tr><tr><td>2614</td><td>Nail-patella 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>2616</td><td>3M syndrome</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>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>263297</td><td>Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency</td></tr><tr><td>2633</td><td>Mesomelic dysplasia, Nievergelt type</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>2634</td><td>Mesomelic dwarfism, Reinhardt-Pfeiffer type</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>26348</td><td>Acquired prothrombin deficiency</td></tr><tr><td>263482</td><td>Spondyloepiphyseal dysplasia, Maroteaux type</td></tr><tr><td>263487</td><td>COG5-CDG</td></tr><tr><td>26349</td><td>Protein S acquired deficiency</td></tr><tr><td>263494</td><td>DPM3-CDG</td></tr><tr><td>2635</td><td>Metatropic dysplasia</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>2636</td><td>Microcephalic osteodysplastic primordial dwarfism types I and III</td></tr><tr><td>263662</td><td>Familial multiple meningioma</td></tr><tr><td>263665</td><td>NK-cell enteropathy</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>264200</td><td>14q22q23 microdeletion syndrome</td></tr><tr><td>2643</td><td>Microcephalic primordial dwarfism, Toriello type</td></tr><tr><td>264450</td><td>Trisomy 8p</td></tr><tr><td>2645</td><td>Osteoglosphonic dysplasia</td></tr><tr><td>264580</td><td>Glycogen storage disease due to liver phosphorylase kinase deficiency</td></tr><tr><td>2646</td><td>Parastremmatic dwarfism</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>2653</td><td>Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome</td></tr><tr><td>2655</td><td>Thanatophoric dysplasia</td></tr><tr><td>2658</td><td>Lenz-Majewski hyperostotic dwarfism</td></tr><tr><td>266</td><td>Autosomal dominant limb-girdle muscular dystrophy type 1A</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>267</td><td>Calpain-3-related limb-girdle muscular dystrophy R1</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>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>268</td><td>Dysferlin-related limb-girdle muscular dystrophy R2</td></tr><tr><td>2680</td><td>Hypomyelination neuropathy-arthrogryposis syndrome</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>2686</td><td>Cyclic neutropenia</td></tr><tr><td>2688</td><td>Adult idiopathic neutropenia</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>269</td><td>Facioscapulohumeral dystrophy</td></tr><tr><td>2690</td><td>Neutropenia-monocytopenia-deafness syndrome</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>2695</td><td>Bifid nose</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>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>27</td><td>Vitamin B12-unresponsive methylmalonic acidemia</td></tr><tr><td>270</td><td>Oculopharyngeal muscular dystrophy</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>Ochoa 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>272</td><td>Congenital muscular dystrophy, Fukuyama 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>2729</td><td>Okamoto syndrome</td></tr><tr><td>273</td><td>Steinert myotonic dystrophy</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>274</td><td>Bernard-Soulier syndrome</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>275</td><td>Severe combined immunodeficiency due to DCLRE1C deficiency</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>2752</td><td>Orofaciodigital syndrome type 3</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>275517</td><td>Autoimmune lymphoproliferative syndrome with recurrent viral infections</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>2756</td><td>Orofaciodigital syndrome type 10</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>2759</td><td>Imperforate oropharynx-costovertebral anomalies syndrome</td></tr><tr><td>275944</td><td>Hemolytic disease of the newborn with Kell alloimmunization</td></tr><tr><td>276</td><td>T-B+ severe combined immunodeficiency due to gamma chain deficiency</td></tr><tr><td>2760</td><td>OSLAM syndrome</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>2762</td><td>Progressive osseous heteroplasia</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>2763</td><td>Osteocraniostenosis</td></tr><tr><td>276399</td><td>Familial multinodular goiter</td></tr><tr><td>2764</td><td>Osteochondritis dissecans</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>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>277</td><td>Severe combined immunodeficiency due to adenosine deaminase deficiency</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>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>28</td><td>Vitamin B12-responsive methylmalonic acidemia</td></tr><tr><td>280</td><td>Wolf-Hirschhorn syndrome</td></tr><tr><td>2800</td><td>Extramammary Paget disease</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>2801</td><td>Juvenile Paget disease</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>2802</td><td>X-linked sideroblastic anemia and spinocerebellar ataxia</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>2804</td><td>W syndrome</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>2805</td><td>Partial pancreatic agenesis</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>2806</td><td>Subacute sclerosing leukoencephalitis</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>2807</td><td>Papilloma of choroid plexus</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>2808</td><td>Laryngeal abductor paralysis</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>2809</td><td>Familial recurrent peripheral facial palsy</td></tr><tr><td>280917</td><td>Idiopathic posterior uveitis</td></tr><tr><td>280921</td><td>Idiopathic panuveitis</td></tr><tr><td>281</td><td>Monosomy 5p</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>2812</td><td>Parana hard skin syndrome</td></tr><tr><td>281201</td><td>Keratosis linearis-ichthyosis congenita-sclerosing keratoderma 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>282166</td><td>Inherited Creutzfeldt-Jakob disease</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>283</td><td>Demodicidosis</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>28378</td><td>Tyrosinemia type 2</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>284</td><td>Alveolar echinococcosis</td></tr><tr><td>2840</td><td>Pelvic dysplasia-arthrogryposis of lower limbs syndrome</td></tr><tr><td>2841</td><td>Familial benign chronic pemphigus</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>2842</td><td>Penoscrotal transposition</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>2843</td><td>Pentosuria</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>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>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>285</td><td>Hypermobile Ehlers-Danlos 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>286</td><td>Vascular Ehlers-Danlos 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>287</td><td>Classical Ehlers-Danlos 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>2878</td><td>Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome</td></tr><tr><td>2879</td><td>Phocomelia, Schinzel type</td></tr><tr><td>288</td><td>Hereditary elliptocytosis</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>289</td><td>Ellis Van Creveld syndrome</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>289157</td><td>Hypocalcemic vitamin D-dependent rickets</td></tr><tr><td>289176</td><td>Autosomal recessive hypophosphatemic rickets</td></tr><tr><td>2892</td><td>Pilodental dysplasia-refractive errors syndrome</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>2896</td><td>Pitt-Hopkins syndrome</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 of the elderly</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>2897</td><td>Pityriasis rubra pilaris</td></tr><tr><td>2898</td><td>X-linked intellectual disability-plagiocephaly syndrome</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>2899</td><td>Brachyolmia-amelogenesis imperfecta syndrome</td></tr><tr><td>289916</td><td>Vitamin B12-unresponsive methylmalonic acidemia type mut0</td></tr><tr><td>29</td><td>Mevalonic aciduria</td></tr><tr><td>290</td><td>Congenital rubella 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>29072</td><td>Hereditary pheochromocytoma-paraganglioma</td></tr><tr><td>29073</td><td>Multiple myeloma</td></tr><tr><td>2908</td><td>Kindler epidermolysis bullosa</td></tr><tr><td>2909</td><td>Rothmund-Thomson syndrome</td></tr><tr><td>291</td><td>Congenital varicella 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>292</td><td>Congenital enterovirus infection</td></tr><tr><td>2920</td><td>Oliver syndrome</td></tr><tr><td>29207</td><td>Reactive arthritis</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>293</td><td>Congenital herpes simplex virus infection</td></tr><tr><td>2930</td><td>Cronkhite-Canada syndrome</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>2932</td><td>Chronic inflammatory demyelinating polyneuropathy</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>2934</td><td>Polysyndactyly-cardiac malformation syndrome</td></tr><tr><td>293462</td><td>Pre-Descemet corneal dystrophy</td></tr><tr><td>2935</td><td>Crossed polysyndactyly</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>Familial isolated arrhythmogenic ventricular dysplasia, left dominant form</td></tr><tr><td>293899</td><td>Familial isolated arrhythmogenic ventricular dysplasia, biventricular form</td></tr><tr><td>293910</td><td>Familial isolated arrhythmogenic ventricular dysplasia, right dominant form</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>294</td><td>Fetal cytomegalovirus syndrome</td></tr><tr><td>2940</td><td>Porencephaly</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>2941</td><td>Porencephaly-cerebellar hypoplasia-internal malformations syndrome</td></tr><tr><td>2942</td><td>Postpoliomyelitis syndrome</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>2946</td><td>Brachydactyly-long thumb syndrome</td></tr><tr><td>2947</td><td>Triphalangeal thumbs-brachyectrodactyly syndrome</td></tr><tr><td>294967</td><td>Amelia of upper limb</td></tr><tr><td>294969</td><td>Amelia of lower limb</td></tr><tr><td>294971</td><td>Tetra-amelia</td></tr><tr><td>294973</td><td>Humeral agenesis/hypoplasia</td></tr><tr><td>294975</td><td>Congenital absence of upper arm and forearm with hand present</td></tr><tr><td>294977</td><td>Congenital absence of thigh and lower leg with foot present</td></tr><tr><td>294979</td><td>Congenital absence of both forearm and hand</td></tr><tr><td>294981</td><td>Congenital absence of both lower leg and foot</td></tr><tr><td>294983</td><td>Acheiria</td></tr><tr><td>294986</td><td>Apodia</td></tr><tr><td>294988</td><td>Congenital hypoplasia of thumb</td></tr><tr><td>295</td><td>Fetal parvovirus syndrome</td></tr><tr><td>295000</td><td>Constriction rings syndrome</td></tr><tr><td>295002</td><td>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>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>2951</td><td>Absent thumb-short stature-immunodeficiency syndrome</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>2952</td><td>Adducted thumbs-arthrogryposis syndrome, Christian type</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>295213</td><td>Humero-ulnar synostosis, unilateral</td></tr><tr><td>295215</td><td>Humero-ulnar synostosis, bilateral</td></tr><tr><td>295217</td><td>Radio-ulnar synostosis, unilateral</td></tr><tr><td>295219</td><td>Radio-ulnar synostosis, 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>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>296</td><td>Ollier disease</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>297</td><td>Tick-borne encephalitis</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>298</td><td>Mitochondrial neurogastrointestinal encephalomyopathy</td></tr><tr><td>2980</td><td>Acrootoocular syndrome</td></tr><tr><td>29822</td><td>Spontaneous periodic hypothermia</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>30</td><td>Hereditary orotic aciduria</td></tr><tr><td>300</td><td>Bifunctional enzyme deficiency</td></tr><tr><td>3000</td><td>Familial peripheral male-limited precocious puberty</td></tr><tr><td>300179</td><td>Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency</td></tr><tr><td>3002</td><td>Immune thrombocytopenia</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>3003</td><td>Pyknoachondrogenesis</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>3004</td><td>Mirror polydactyly-vertebral segmentation-limbs defects syndrome</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>3005</td><td>Pyle disease</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>3006</td><td>Pyridoxine-dependent epilepsy</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>3008</td><td>Pyruvate carboxylase deficiency</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>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>302</td><td>Epidermodysplasia verruciformis</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>30391</td><td>Isolated biliary atresia</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>306</td><td>Benign familial infantile epilepsy</td></tr><tr><td>3063</td><td>X-linked intellectual disability, Snyder type</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>Sodium channelopathy-related small fiber 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>3068</td><td>Intellectual disability-myopathy-short stature-endocrine defect syndrome</td></tr><tr><td>307</td><td>Juvenile myoclonic epilepsy</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>307766</td><td>Curly hair-acral keratoderma-caries 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>307936</td><td>Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome</td></tr><tr><td>308</td><td>Progressive myoclonic epilepsy type 1</td></tr><tr><td>3080</td><td>Intellectual disability, Wolff type</td></tr><tr><td>308013</td><td>Focal acral hyperkeratosis</td></tr><tr><td>3082</td><td>Intellectual disability-polydactyly-uncombable hair syndrome</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>3085</td><td>Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome</td></tr><tr><td>308552</td><td>Glycogen storage disease due to acid maltase deficiency, infantile onset</td></tr><tr><td>3086</td><td>Autosomal dominant vitreoretinochoroidopathy</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>3088</td><td>Revesz syndrome</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, B variant, infantile form</td></tr><tr><td>309185</td><td>Tay-Sachs disease, B variant, juvenile form</td></tr><tr><td>309192</td><td>Tay-Sachs disease, B variant, adult form</td></tr><tr><td>3092</td><td>Fixed subaortic stenosis</td></tr><tr><td>309239</td><td>Tay-Sachs disease, B1 variant</td></tr><tr><td>30924</td><td>Primary hypomagnesemia with secondary hypocalcemia</td></tr><tr><td>309246</td><td>GM2 gangliosidosis, AB variant</td></tr><tr><td>30925</td><td>Hereditary central diabetes insipidus</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>3093</td><td>Congenital aortic valve stenosis</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>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>309789</td><td>Rhizomelic chondrodysplasia punctata type 1</td></tr><tr><td>309796</td><td>Rhizomelic chondrodysplasia punctata type 2</td></tr><tr><td>3098</td><td>Rhizomelic syndrome, Urbach type</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>3099</td><td>Rheumatic fever</td></tr><tr><td>31</td><td>Oxoglutaric aciduria</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>31043</td><td>Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement</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>31112</td><td>Dermatofibrosarcoma protuberans</td></tr><tr><td>3115</td><td>Roussy-Lévy syndrome</td></tr><tr><td>31150</td><td>Tangier disease</td></tr><tr><td>312</td><td>Autosomal dominant epidermolytic ichthyosis</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>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>313</td><td>Lamellar ichthyosis</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>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>3138</td><td>Ulnar-mammary 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>Hereditary diffuse 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>314</td><td>Erythroderma desquamativum</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>3143</td><td>Autoimmune polyendocrinopathy type 2</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>3144</td><td>Schneckenbecken dysplasia</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>3145</td><td>Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome</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>ATP13A2-related juvenile neuronal ceroid lipofuscinosis</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>3148</td><td>Malignant peripheral nerve sheath tumor</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>315</td><td>Erythrokeratoderma ''en cocardes''</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>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>3156</td><td>Senior-Loken syndrome</td></tr><tr><td>3157</td><td>Septo-optic dysplasia spectrum</td></tr><tr><td>316</td><td>Progressive symmetric erythrokeratodermia</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>317</td><td>Erythrokeratodermia variabilis</td></tr><tr><td>31709</td><td>Infantile convulsions and choreoathetosis</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>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>X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia</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>318</td><td>Acute erythroid leukemia</td></tr><tr><td>3180</td><td>Spondylocamptodactyly syndrome</td></tr><tr><td>3181</td><td>Sprengel deformity</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>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>319</td><td>Skeletal Ewing sarcoma</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>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>3192</td><td>Supravalvular pulmonary stenosis</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>3193</td><td>Supravalvular aortic stenosis</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>3194</td><td>Corneodermatoosseous 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>3196</td><td>Steroid dehydrogenase deficiency-dental anomalies syndrome</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>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>32</td><td>Glutathione synthetase deficiency</td></tr><tr><td>320</td><td>Apparent mineralocorticoid excess</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>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>3204</td><td>Stormorken-Sjaastad-Langslet syndrome</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>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>321</td><td>Multiple osteochondromas</td></tr><tr><td>3210</td><td>Summitt syndrome</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>322</td><td>Exstrophy-epispadias complex</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>3226</td><td>Deafness-lymphedema-leukemia 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>324</td><td>Fabry disease</td></tr><tr><td>3240</td><td>Central nervous system calcification-deafness-tubular acidosis-anemia syndrome</td></tr><tr><td>3241</td><td>Deafness-craniofacial syndrome</td></tr><tr><td>3242</td><td>Renpenning syndrome</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>3243</td><td>Sweet syndrome</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>3246</td><td>Symphalangism with multiple anomalies of hands and feet</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>3248</td><td>Distal symphalangism</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>325</td><td>Congenital factor II deficiency</td></tr><tr><td>3250</td><td>Proximal symphalangism</td></tr><tr><td>325124</td><td>Testicular agenesis</td></tr><tr><td>3253</td><td>Cleft lip/palate-ectodermal dysplasia syndrome</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>3255</td><td>Filippi syndrome</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>3258</td><td>Cenani-Lenz syndrome</td></tr><tr><td>3259</td><td>Syndactyly-polydactyly-ear lobe syndrome</td></tr><tr><td>326</td><td>Congenital factor V deficiency</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>Humero-radial synostosis</td></tr><tr><td>3266</td><td>Humero-radio-ulnar synostosis</td></tr><tr><td>3268</td><td>Radioulnar synostosis-microcephaly-scoliosis syndrome</td></tr><tr><td>3269</td><td>Congenital radioulnar synostosis</td></tr><tr><td>327</td><td>Congenital factor VII deficiency</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>328</td><td>Congenital factor X deficiency</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>329</td><td>Congenital factor XI deficiency</td></tr><tr><td>3291</td><td>Teebi-Shaltout syndrome</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>3292</td><td>Tel Hashomer camptodactyly syndrome</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>Intellectual disability-craniofacial dysmorphism-cryptorchidism 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>3293</td><td>Telecanthus-hypertelorism-strabismus-pes cavus syndrome</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>3294</td><td>Extensor tendons of finger anomalies</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 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>32960</td><td>Tumor necrosis factor receptor 1 associated periodic syndrome</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>3299</td><td>Tetanus</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>33</td><td>Isovaleric acidemia</td></tr><tr><td>330</td><td>Congenital factor XII deficiency</td></tr><tr><td>330001</td><td>Wild type ATTR amyloidosis</td></tr><tr><td>33001</td><td>Lymphedema-distichiasis syndrome</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>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>33067</td><td>Metaphyseal chondrodysplasia, Jansen type</td></tr><tr><td>33069</td><td>Dravet syndrome</td></tr><tr><td>3307</td><td>Tetrasomy 18p</td></tr><tr><td>3309</td><td>Tetrasomy 5p</td></tr><tr><td>331</td><td>Congenital factor XIII deficiency</td></tr><tr><td>3310</td><td>Tetrasomy 9p</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>331176</td><td>Autosomal recessive 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>3312</td><td>Thalidomide embryopathy</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>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>332</td><td>Congenital intrinsic factor deficiency</td></tr><tr><td>3320</td><td>Thrombocytopenia-absent radius syndrome</td></tr><tr><td>33208</td><td>Idiopathic hypersomnia</td></tr><tr><td>3322</td><td>Hoyeraal-Hreidarsson syndrome</td></tr><tr><td>33226</td><td>Waldenström macroglobulinemia</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>33276</td><td>Kaposi sarcoma</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>333</td><td>Farber disease</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>3337</td><td>Primary Fanconi renotubular syndrome</td></tr><tr><td>3338</td><td>Toriello-Carey syndrome</td></tr><tr><td>3339</td><td>Toriello-Lacassie-Droste syndrome</td></tr><tr><td>334</td><td>Familial atrial fibrillation</td></tr><tr><td>33402</td><td>Pediatric hepatocellular carcinoma</td></tr><tr><td>33408</td><td>Bullous lichen planus</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>33445</td><td>Neuroectodermal melanolysosomal disease</td></tr><tr><td>3346</td><td>Tracheal agenesis</td></tr><tr><td>3347</td><td>Mounier-Kühn syndrome</td></tr><tr><td>33475</td><td>Meningococcal meningitis</td></tr><tr><td>3348</td><td>Tracheobronchopathia osteochondroplastica</td></tr><tr><td>335</td><td>Congenital fibrinogen deficiency</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>33543</td><td>Kleine-Levin syndrome</td></tr><tr><td>3355</td><td>Trichoodontoonychial dysplasia</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>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>337</td><td>Fibrodysplasia ossificans progressiva</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>Truncus arteriosus</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>340</td><td>Hemorrhagic fever-renal syndrome</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>34149</td><td>Autosomal dominant tubulointerstitial kidney disease</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>342</td><td>Familial Mediterranean fever</td></tr><tr><td>34217</td><td>Naxos disease</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>343</td><td>Hyperimmunoglobulinemia D with periodic fever</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>345</td><td>Dissecting cellulitis of the scalp</td></tr><tr><td>3451</td><td>Infantile spasms syndrome</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>3452</td><td>Whipple disease</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>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>34587</td><td>Glycogen storage disease due to LAMP-2 deficiency</td></tr><tr><td>3459</td><td>Wilson-Turner syndrome</td></tr><tr><td>34592</td><td>Immunodeficiency by defective expression of MHC class I</td></tr><tr><td>346</td><td>Quinquaud folliculitis decalvans</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>347</td><td>Frasier 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>348</td><td>Fructose-1,6-bisphosphatase deficiency</td></tr><tr><td>349</td><td>Fucosidosis</td></tr><tr><td>35</td><td>Propionic acidemia</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>351</td><td>Galactosialidosis</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>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>353</td><td>Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5</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>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>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>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>35701</td><td>3-hydroxy-3-methylglutaryl-CoA synthase deficiency</td></tr><tr><td>357027</td><td>Hereditary retinoblastoma</td></tr><tr><td>357034</td><td>Non-hereditary retinoblastoma</td></tr><tr><td>35704</td><td>L-Arginine:glycine amidinotransferase deficiency</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>35706</td><td>Glutaric acidemia type 3</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>35708</td><td>Aromatic L-amino acid decarboxylase deficiency</td></tr><tr><td>35710</td><td>Glucose-galactose malabsorption</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>Severe 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>35737</td><td>Morning glory disc anomaly</td></tr><tr><td>358</td><td>Gitelman syndrome</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>36</td><td>Acrocallosal syndrome</td></tr><tr><td>360</td><td>Glioblastoma</td></tr><tr><td>361</td><td>Familial glucocorticoid deficiency</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>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>36355</td><td>Bleeding disorder due to P2Y12 defect</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>36367</td><td>Distal deletion 1q</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>36382</td><td>Familial cervical artery dissection</td></tr><tr><td>36383</td><td>COL4A1-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>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>36397</td><td>Adiposis dolorosa</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>364</td><td>Glycogen storage disease due to glucose-6-phosphatase deficiency</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>36412</td><td>Hypocomplementemic urticarial vasculitis</td></tr><tr><td>364198</td><td>Bipartite talus</td></tr><tr><td>36426</td><td>Stevens-Johnson syndrome</td></tr><tr><td>364577</td><td>Intellectual disability-brachydactyly-Pierre Robin syndrome</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>36899</td><td>Myoclonus-dystonia syndrome</td></tr><tr><td>369</td><td>Glycogen storage disease due to liver glycogen phosphorylase deficiency</td></tr><tr><td>36913</td><td>Autoimmune hypoparathyroidism</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>37</td><td>Acrodermatitis enteropathica</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>37042</td><td>Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome</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>371</td><td>Glycogen storage disease due to muscle phosphofructokinase deficiency</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>37202</td><td>Interstitial cystitis</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>37553</td><td>Andersen-Tawil syndrome</td></tr><tr><td>37559</td><td>Acquired kinky hair syndrome</td></tr><tr><td>376</td><td>Gordon syndrome</td></tr><tr><td>37612</td><td>Episodic ataxia type 1</td></tr><tr><td>377</td><td>Gorlin syndrome</td></tr><tr><td>37748</td><td>Schnitzler syndrome</td></tr><tr><td>379</td><td>Chronic granulomatous disease</td></tr><tr><td>38</td><td>Acrokeratoelastoidosis of Costa</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>38874</td><td>Dihydropyrimidinuria</td></tr><tr><td>389</td><td>Langerhans cell histiocytosis</td></tr><tr><td>39</td><td>Acromelanosis</td></tr><tr><td>390</td><td>Histoplasmosis</td></tr><tr><td>39041</td><td>Omenn syndrome</td></tr><tr><td>39044</td><td>Uveal melanoma</td></tr><tr><td>391</td><td>Classic Hodgkin lymphoma</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>Intellectual disability-severe speech delay-mild dysmorphism 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>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>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>Classic homocystinuria</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>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>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>39812</td><td>Graft versus host disease</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>399</td><td>Huntington disease</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>40</td><td>Acromesomelic dysplasia, Maroteaux type</td></tr><tr><td>400</td><td>Cystic echinococcosis</td></tr><tr><td>401</td><td>Hymenolepiasis</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>403</td><td>Familial hyperaldosteronism type I</td></tr><tr><td>40366</td><td>Acitretin/etretinate embryopathy</td></tr><tr><td>404</td><td>Familial hyperaldosteronism type II</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>Vasculitis due to ADA2 deficiency</td></tr><tr><td>404560</td><td>Familial atypical multiple mole melanoma syndrome</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>40923</td><td>Eales disease</td></tr><tr><td>41</td><td>Dyschromatosis symmetrica hereditaria</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>412</td><td>Dysbetalipoproteinemia</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>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>41751</td><td>Bietti crystalline dystrophy</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>419</td><td>Hyperprolinemia type 1</td></tr><tr><td>42</td><td>Medium chain acyl-CoA dehydrogenase deficiency</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>42062</td><td>Iminoglycinuria</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>422</td><td>Idiopathic/heritable pulmonary arterial hypertension</td></tr><tr><td>422526</td><td>Hereditary clear cell renal cell carcinoma</td></tr><tr><td>423</td><td>Malignant hyperthermia of anesthesia</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>Autosomal recessive 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-diabetes insipidus syndrome</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>424</td><td>Familial hyperthyroidism due to mutations in TSH receptor</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>425</td><td>Apolipoprotein A-I deficiency</td></tr><tr><td>425120</td><td>STING-associated vasculopathy with onset in infancy</td></tr><tr><td>42642</td><td>PFAPA syndrome</td></tr><tr><td>42665</td><td>Tietz syndrome</td></tr><tr><td>427</td><td>Familial hypoaldosteronism</td></tr><tr><td>42775</td><td>PHACE syndrome</td></tr><tr><td>428</td><td>Autosomal dominant hypocalcemia</td></tr><tr><td>429</td><td>Hypochondroplasia</td></tr><tr><td>43</td><td>X-linked adrenoleukodystrophy</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>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>431166</td><td>Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection</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>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>432</td><td>Normosmic congenital hypogonadotropic hypogonadism</td></tr><tr><td>43393</td><td>Lambert-Eaton myasthenic syndrome</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>436</td><td>Hypophosphatasia</td></tr><tr><td>436003</td><td>Contractures-developmental delay-Pierre Robin syndrome</td></tr><tr><td>436141</td><td>Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus 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>439</td><td>Isolated right ventricular hypoplasia</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>44</td><td>Neonatal adrenoleukodystrophy</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>441</td><td>Pure autonomic failure</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>444</td><td>Marie Unna hereditary hypotrichosis</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</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 type 7</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>446</td><td>Neonatal hemochromatosis</td></tr><tr><td>447</td><td>Paroxysmal nocturnal hemoglobinuria</td></tr><tr><td>447731</td><td>NIK deficiency</td></tr><tr><td>447737</td><td>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>44890</td><td>Gastrointestinal stromal tumor</td></tr><tr><td>449</td><td>Hepatoblastoma</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>45</td><td>Adenosine monophosphate deaminase deficiency</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>452</td><td>X-linked lissencephaly with abnormal genitalia</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>45358</td><td>Congenital fibrosis of extraocular muscles</td></tr><tr><td>454</td><td>Acquired ichthyosis</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>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>455</td><td>Superficial epidermolytic ichthyosis</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>457</td><td>Harlequin ichthyosis</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>Primary 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>46</td><td>Adenylosuccinate lyase deficiency</td></tr><tr><td>46059</td><td>Lathosterolosis</td></tr><tr><td>461</td><td>Recessive X-linked ichthyosis</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>464</td><td>Incontinentia pigmenti</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>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>465</td><td>Congenital plasminogen activator inhibitor type 1 deficiency</td></tr><tr><td>46532</td><td>Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome</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>466</td><td>Fatal familial insomnia</td></tr><tr><td>466026</td><td>Class I glucose-6-phosphate dehydrogenase deficiency</td></tr><tr><td>46627</td><td>Char syndrome</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>46724</td><td>Cerebral arteriovenous malformation</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>469</td><td>Hereditary fructose intolerance</td></tr><tr><td>47</td><td>X-linked agammaglobulinemia</td></tr><tr><td>470</td><td>Lysinuric protein intolerance</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>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>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>476102</td><td>Hereditary pediatric Behçet-like disease</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>47612</td><td>Felty 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>477</td><td>KID 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>478</td><td>Kallmann 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>48</td><td>Congenital bilateral absence of vas deferens</td></tr><tr><td>480</td><td>Kearns-Sayre syndrome</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>481</td><td>Kennedy disease</td></tr><tr><td>48104</td><td>Pyoderma gangrenosum</td></tr><tr><td>481152</td><td>PYCR2-related microcephaly-progressive leukoencephalopathy</td></tr><tr><td>48162</td><td>Lewis-Sumner syndrome</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>482</td><td>Kimura disease</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>483</td><td>Congenital high-molecular-weight kininogen deficiency</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>485</td><td>Kniest dysplasia</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>486</td><td>Autosomal dominant severe congenital neutropenia</td></tr><tr><td>48652</td><td>Monosomy 22q13.3</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>48686</td><td>Primary effusion lymphoma</td></tr><tr><td>487</td><td>Krabbe disease</td></tr><tr><td>48736</td><td>Embryonal carcinoma of the central nervous system</td></tr><tr><td>487796</td><td>Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly 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>488</td><td>Urachal cyst</td></tr><tr><td>488168</td><td>Microcephaly-congenital cataract-psoriasiform dermatitis syndrome</td></tr><tr><td>48818</td><td>Aceruloplasminemia</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>48918</td><td>Focal myositis</td></tr><tr><td>49</td><td>Penile agenesis</td></tr><tr><td>490</td><td>Omphalomesenteric cyst</td></tr><tr><td>49041</td><td>IgG4-related retroperitoneal fibrosis</td></tr><tr><td>49042</td><td>Dentinogenesis imperfecta</td></tr><tr><td>492</td><td>Proliferating trichilemmal cyst</td></tr><tr><td>493</td><td>Familial keratoacanthoma</td></tr><tr><td>493342</td><td>Vibratory urticaria</td></tr><tr><td>49382</td><td>Achromatopsia</td></tr><tr><td>494</td><td>Keratoderma hereditarium mutilans</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>495</td><td>Transgrediens et progrediens palmoplantar keratoderma</td></tr><tr><td>495274</td><td>Charcot-Marie-Tooth disease type 2T</td></tr><tr><td>49566</td><td>Acquired purpura fulminans</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>49804</td><td>Lichen amyloidosis</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>49827</td><td>Thiamine-responsive megaloblastic anemia syndrome</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>499</td><td>Kerion celsi</td></tr><tr><td>499009</td><td>Congenital syphilis</td></tr><tr><td>499085</td><td>Chronic relapsing inflammatory optic neuropathy</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>5</td><td>Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency</td></tr><tr><td>50</td><td>Aicardi syndrome</td></tr><tr><td>500</td><td>Noonan syndrome with multiple lentigines</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>SIN3A-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>501</td><td>Lafora disease</td></tr><tr><td>502</td><td>Trichorhinophalangeal syndrome type 2</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>Metopic ridging-ptosis-facial dysmorphism 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>50251</td><td>Pleural mesothelioma</td></tr><tr><td>503</td><td>Larsen syndrome</td></tr><tr><td>504</td><td>Creeping myiasis</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>505</td><td>Graham Little-Piccardi-Lassueur syndrome</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>506</td><td>Leigh syndrome</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>507</td><td>Leishmaniasis</td></tr><tr><td>508</td><td>Leprechaunism</td></tr><tr><td>50809</td><td>Talo-patello-scaphoid osteolysis</td></tr><tr><td>508093</td><td>MEPAN syndrome</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>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>509</td><td>Leptospirosis</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>51</td><td>Aicardi-Goutières syndrome</td></tr><tr><td>510</td><td>Lesch-Nyhan syndrome</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>511</td><td>Maple syrup urine disease</td></tr><tr><td>51188</td><td>Ethylmalonic encephalopathy</td></tr><tr><td>512</td><td>Metachromatic leukodystrophy</td></tr><tr><td>512017</td><td>Chronic lymphoproliferative disorder of natural killer cells</td></tr><tr><td>51208</td><td>Formiminoglutamic aciduria</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>514</td><td>Acute monoblastic/monocytic leukemia</td></tr><tr><td>514352</td><td>Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome</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>517</td><td>Acute myelomonocytic leukemia</td></tr><tr><td>518</td><td>Acute megakaryoblastic leukemia</td></tr><tr><td>51890</td><td>Anterior cutaneous nerve entrapment 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>52</td><td>Alagille syndrome</td></tr><tr><td>520</td><td>Acute promyelocytic leukemia</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>521</td><td>Chronic myeloid leukemia</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>523</td><td>Hereditary leiomyomatosis and renal cell cancer</td></tr><tr><td>52368</td><td>Mohr-Tranebjaerg syndrome</td></tr><tr><td>524</td><td>Li-Fraumeni 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>525</td><td>Lichen planopilaris</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>525731</td><td>Pediatric-onset Graves disease</td></tr><tr><td>525738</td><td>Prepubertal anorexia nervosa</td></tr><tr><td>526</td><td>Liddle syndrome</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>528</td><td>Congenital generalized lipodystrophy</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>529</td><td>Roch-Leri mesosomatous lipomatosis</td></tr><tr><td>52901</td><td>Isolated follicle stimulating hormone 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>52994</td><td>Orbital leiomyoma</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>53</td><td>Albers-Schönberg osteopetrosis</td></tr><tr><td>530</td><td>Lipoid proteinosis</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>53035</td><td>Caroli disease</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>531</td><td>Miller-Dieker syndrome</td></tr><tr><td>531151</td><td>9q21.13 microdeletion syndrome</td></tr><tr><td>53271</td><td>Muenke syndrome</td></tr><tr><td>53296</td><td>Familial cutaneous collagenoma</td></tr><tr><td>533</td><td>Listeriosis</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>534</td><td>Oculocerebrorenal syndrome of Lowe</td></tr><tr><td>53540</td><td>Goldmann-Favre 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>53583</td><td>Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity</td></tr><tr><td>536</td><td>Systemic lupus erythematosus</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>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>537</td><td>Toxic epidermal necrolysis</td></tr><tr><td>537072</td><td>PLG-related hereditary angioedema with normal C1Inh</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>538</td><td>Lymphangioleiomyomatosis</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 SH2D1A 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>54</td><td>X-linked recessive ocular albinism</td></tr><tr><td>540</td><td>Familial hemophagocytic lymphohistiocytosis</td></tr><tr><td>54028</td><td>Plummer-Vinson syndrome</td></tr><tr><td>54057</td><td>Thrombotic thrombocytopenic purpura</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>54247</td><td>Posterior cortical atrophy</td></tr><tr><td>54251</td><td>Corticosteroid-sensitive aseptic abscess 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>54260</td><td>Left ventricular noncompaction</td></tr><tr><td>542643</td><td>Livedoid vasculopathy</td></tr><tr><td>542657</td><td>Isolated hyperchlorhidrosis</td></tr><tr><td>54272</td><td>Hepatocellular adenoma</td></tr><tr><td>543</td><td>Burkitt lymphoma</td></tr><tr><td>543470</td><td>Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome</td></tr><tr><td>54368</td><td>Sarcocystosis</td></tr><tr><td>54370</td><td>Primary membranoproliferative glomerulonephritis</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>545</td><td>Follicular lymphoma</td></tr><tr><td>54595</td><td>Craniopharyngioma</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>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>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>556</td><td>Malakoplakia</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>55654</td><td>Hypotrichosis simplex</td></tr><tr><td>55655</td><td>Pneumococcal meningitis</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>558</td><td>Marfan syndrome</td></tr><tr><td>558411</td><td>Idiopathic gastroparesis</td></tr><tr><td>55880</td><td>Chondrosarcoma</td></tr><tr><td>55881</td><td>Adamantinoma</td></tr><tr><td>559</td><td>Marinesco-Sjögren syndrome</td></tr><tr><td>56</td><td>Alkaptonuria</td></tr><tr><td>560</td><td>Marshall syndrome</td></tr><tr><td>561</td><td>Marshall-Smith syndrome</td></tr><tr><td>561854</td><td>FOXG1 syndrome</td></tr><tr><td>562</td><td>McCune-Albright 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>563</td><td>Peripartum cardiomyopathy</td></tr><tr><td>56304</td><td>Atelosteogenesis type II</td></tr><tr><td>56305</td><td>Atelosteogenesis type III</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>564</td><td>Meckel syndrome</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>56425</td><td>Cold agglutinin disease</td></tr><tr><td>565</td><td>Menkes disease</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>566</td><td>Congenital microcoria</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>567</td><td>22q11.2 deletion 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>568</td><td>Microphthalmia, Lenz type</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>569</td><td>Familial or sporadic hemiplegic migraine</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>57</td><td>Glycogen storage disease due to aldolase A deficiency</td></tr><tr><td>570</td><td>Moebius syndrome</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>57145</td><td>SUNCT syndrome</td></tr><tr><td>57196</td><td>Medial condensing osteitis of the clavicle</td></tr><tr><td>572</td><td>Immunodeficiency by defective expression of MHC class II</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>573</td><td>Monilethrix</td></tr><tr><td>573253</td><td>Split cord malformation type II</td></tr><tr><td>574</td><td>21q deletion syndrome</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>575</td><td>Muckle-Wells syndrome</td></tr><tr><td>575553</td><td>Cathepsin A-related arteriopathy-strokes-leukoencephalopathy</td></tr><tr><td>576</td><td>Mucolipidosis type II</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>577</td><td>Mucolipidosis type III</td></tr><tr><td>57777</td><td>Cirrhotic cardiomyopathy</td></tr><tr><td>57782</td><td>Mazabraud syndrome</td></tr><tr><td>578</td><td>Mucolipidosis type IV</td></tr><tr><td>579</td><td>Mucopolysaccharidosis type 1</td></tr><tr><td>58</td><td>Alexander disease</td></tr><tr><td>580</td><td>Mucopolysaccharidosis type 2</td></tr><tr><td>58017</td><td>Classic hairy cell leukemia</td></tr><tr><td>58040</td><td>Osteoblastoma</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>581</td><td>Mucopolysaccharidosis type 3</td></tr><tr><td>581271</td><td>Cramp-fasciculation syndrome</td></tr><tr><td>582</td><td>Mucopolysaccharidosis type 4</td></tr><tr><td>583</td><td>Mucopolysaccharidosis type 6</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>584</td><td>Mucopolysaccharidosis type 7</td></tr><tr><td>585</td><td>Multiple sulfatase deficiency</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>586</td><td>Cystic fibrosis</td></tr><tr><td>586130</td><td>Sporadic fatal insomnia</td></tr><tr><td>587</td><td>Muir-Torre syndrome</td></tr><tr><td>588</td><td>Muscle-eye-brain disease</td></tr><tr><td>589</td><td>Myasthenia gravis</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>59</td><td>Allan-Herndon-Dudley syndrome</td></tr><tr><td>590</td><td>Congenital myasthenic syndrome</td></tr><tr><td>590539</td><td>Isolated melanotic schwannoma</td></tr><tr><td>591</td><td>Furuncular myiasis</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>592</td><td>Macrophagic myofasciitis</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>592885</td><td>Isolated optic neuritis without anti-MOG antibodies</td></tr><tr><td>592888</td><td>Isolated optic neuritis 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>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>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>596</td><td>X-linked centronuclear myopathy</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>597</td><td>Central core disease</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>598</td><td>Multiminicore myopathy</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>6</td><td>3-methylcrotonyl-CoA carboxylase deficiency</td></tr><tr><td>60</td><td>Alpha-1-antitrypsin deficiency</td></tr><tr><td>600</td><td>Vocal cord and pharyngeal distal myopathy</td></tr><tr><td>60014</td><td>Argyria</td></tr><tr><td>60015</td><td>Enlarged parietal foramina</td></tr><tr><td>600194</td><td>Factor V Atlanta bleeding disorder</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 neuralgia</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>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>602</td><td>GNE myopathy</td></tr><tr><td>603</td><td>Distal myopathy, Welander type</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>606</td><td>Proximal myotonic myopathy</td></tr><tr><td>609</td><td>Tibial muscular dystrophy</td></tr><tr><td>61</td><td>Alpha-mannosidosis</td></tr><tr><td>610</td><td>Bethlem myopathy</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>611</td><td>Inclusion body myositis</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>614</td><td>Thomsen and Becker disease</td></tr><tr><td>615</td><td>Familial atrial myxoma</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>616</td><td>Medulloblastoma</td></tr><tr><td>616874</td><td>Rare disorder without a determined diagnosis after full investigation</td></tr><tr><td>617</td><td>Congenital primary megaureter</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>618</td><td>Familial melanoma</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>Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18</td></tr><tr><td>619367</td><td>SAMD9L-associated autoinflammatory syndrome</td></tr><tr><td>619941</td><td>Immune deficiency due to impaired neutrophil phagocytosis and migration</td></tr><tr><td>619948</td><td>Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome</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>62</td><td>Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3</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>621</td><td>Hereditary methemoglobinemia</td></tr><tr><td>621758</td><td>Fibrosis-neurodegeneration-cerebral angiomatosis syndrome</td></tr><tr><td>622</td><td>Homocystinuria without methylmalonic aciduria</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>624</td><td>Familial multiple nevi flammei</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>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>63</td><td>Alport syndrome</td></tr><tr><td>631</td><td>Non-acquired isolated growth hormone deficiency</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>632</td><td>Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia</td></tr><tr><td>63259</td><td>Iniencephaly</td></tr><tr><td>63260</td><td>Craniorachischisis</td></tr><tr><td>632603</td><td>Mesomelic dysplasia-digital anomalies-intellectual disability syndrome</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>633</td><td>Laron 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>Proximal femoral focal deficiency</td></tr><tr><td>634</td><td>Netherton syndrome</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>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>63455</td><td>Paraneoplastic pemphigus</td></tr><tr><td>635</td><td>Neuroblastoma</td></tr><tr><td>636</td><td>Neurofibromatosis type 1</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>637</td><td>Full NF2-related schwannomatosis</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>638</td><td>Neurofibromatosis-Noonan syndrome</td></tr><tr><td>63862</td><td>Schisis association</td></tr><tr><td>639</td><td>Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG</td></tr><tr><td>63999</td><td>IgG4-related mediastinitis</td></tr><tr><td>64</td><td>Alström syndrome</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>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</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>642</td><td>Hereditary sensory and autonomic neuropathy type 4</td></tr><tr><td>642071</td><td>Primary pulmonary vein stenosis</td></tr><tr><td>642085</td><td>Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type</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>64280</td><td>Childhood absence epilepsy</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>643</td><td>Giant axonal neuropathy</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>644</td><td>NARP 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>64542</td><td>Acrofacial dysostosis, Kennedy-Teebi type</td></tr><tr><td>64545</td><td>Benign idiopathic neonatal seizures</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>646</td><td>Niemann-Pick disease type C</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 congenital heart defects-intellectual disability-facial dysmorphism syndrome</td></tr><tr><td>64686</td><td>Tolosa-Hunt syndrome</td></tr><tr><td>64692</td><td>Oroya fever</td></tr><tr><td>64694</td><td>Trench fever</td></tr><tr><td>647</td><td>Nijmegen breakage syndrome</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>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>Keratoendotheliitis 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>648</td><td>Noonan syndrome</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>649</td><td>Norrie disease</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>65</td><td>Leber congenital amaurosis</td></tr><tr><td>650</td><td>LCAT deficiency</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>652</td><td>Multiple endocrine neoplasia type 1</td></tr><tr><td>65250</td><td>Perineural cyst</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>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>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>65798</td><td>Goodman 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>66518</td><td>Short fifth metacarpals-insulin resistance syndrome</td></tr><tr><td>66529</td><td>Tako-Tsubo cardiomyopathy</td></tr><tr><td>666</td><td>Osteogenesis imperfecta</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>667</td><td>Autosomal recessive malignant osteopetrosis</td></tr><tr><td>668</td><td>Osteosarcoma</td></tr><tr><td>67</td><td>Amoebiasis due to Entamoeba histolytica</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>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>68</td><td>Amoebiasis due to free-living amoebae</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>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>699</td><td>Pearson syndrome</td></tr><tr><td>7</td><td>3C syndrome</td></tr><tr><td>70</td><td>Proximal spinal muscular atrophy</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>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>705</td><td>Pendred syndrome</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>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>71</td><td>Chylomicron retention disease</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>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>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>71493</td><td>Familial thrombocytosis</td></tr><tr><td>715</td><td>Glycogen storage disease due to muscle phosphorylase kinase deficiency</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>716</td><td>Phenylketonuria</td></tr><tr><td>718</td><td>Isolated Pierre Robin syndrome</td></tr><tr><td>72</td><td>Angelman 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>73</td><td>Gorham-Stout disease</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>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>733</td><td>Familial adenomatous polyposis</td></tr><tr><td>734</td><td>Alpha delta granule deficiency</td></tr><tr><td>73423</td><td>Acute ackee fruit intoxication</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>74</td><td>Angiostrongyliasis</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>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>753</td><td>46,XY difference of sex development due to 5-alpha-reductase 2 deficiency</td></tr><tr><td>75325</td><td>Osteosclerosis-ichthyosis-premature ovarian failure syndrome</td></tr><tr><td>75326</td><td>Retinal arterial 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>755</td><td>Leydig cell hypoplasia</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>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>75840</td><td>Congenital muscular dystrophy, Ullrich type</td></tr><tr><td>75857</td><td>6q terminal deletion syndrome</td></tr><tr><td>75858</td><td>MORM syndrome</td></tr><tr><td>76</td><td>Strongyloidiasis</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>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>773</td><td>Refsum disease</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>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>78</td><td>Ankylostomiasis</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>79</td><td>Congenital alpha2-antiplasmin deficiency</td></tr><tr><td>790</td><td>Retinoblastoma</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>791</td><td>Retinitis pigmentosa</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>792</td><td>X-linked retinoschisis</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>79262</td><td>Adult neuronal ceroid lipofuscinosis</td></tr><tr><td>79263</td><td>Infantile neuronal ceroid lipofuscinosis</td></tr><tr><td>79264</td><td>Juvenile neuronal ceroid lipofuscinosis</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>793</td><td>SAPHO syndrome</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>794</td><td>Saethre-Chotzen syndrome</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>Porphyria variegata</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>796</td><td>Sandhoff disease</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>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>8</td><td>47,XYY syndrome</td></tr><tr><td>80</td><td>Antiphospholipid syndrome</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>81</td><td>Antisynthetase syndrome</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>82</td><td>Hereditary thrombophilia due to congenital antithrombin deficiency</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>83</td><td>Antley-Bixler syndrome</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>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>834</td><td>Free sialic acid storage disease</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>838</td><td>Susac syndrome</td></tr><tr><td>839</td><td>Congenital nephrotic syndrome, Finnish type</td></tr><tr><td>84</td><td>Fanconi anemia</td></tr><tr><td>840</td><td>Syringocystadenoma papilliferum</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>841</td><td>Sebocystomatosis</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>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>Alpha-thalassemia-X-linked 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>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>852</td><td>X-linked thrombocytopenia with normal platelets</td></tr><tr><td>85200</td><td>Ischiovertebral 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>853</td><td>Fetal and neonatal alloimmune thrombocytopenia</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>854</td><td>Primitive portal vein thrombosis</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>Hereditary cerebral hemorrhage with amyloidosis</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>86</td><td>Familial abdominal aortic aneurysm</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>86309</td><td>DPAGT1-CDG</td></tr><tr><td>864</td><td>Trichofolliculoma</td></tr><tr><td>867</td><td>Familial multiple trichoepithelioma</td></tr><tr><td>86788</td><td>X-linked severe congenital neutropenia</td></tr><tr><td>86789</td><td>Patella aplasia/hypoplasia</td></tr><tr><td>86797</td><td>Atypical lichen myxedematosus</td></tr><tr><td>868</td><td>Triose phosphate-isomerase deficiency</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>Refractory anemia with excess 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>869</td><td>Triple A syndrome</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>87</td><td>Apert 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>87503</td><td>Mal de Meleda</td></tr><tr><td>876</td><td>Yolk sac tumor</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>879</td><td>Tungiasis</td></tr><tr><td>88</td><td>Idiopathic aplastic anemia</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>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>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>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>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>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>899</td><td>Walker-Warburg syndrome</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>9</td><td>Tetrasomy X</td></tr><tr><td>90</td><td>Argininemia</td></tr><tr><td>900</td><td>Granulomatosis with polyangiitis</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 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>901</td><td>Wells 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>902</td><td>Werner syndrome</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>903</td><td>Von Willebrand disease</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>904</td><td>Williams syndrome</td></tr><tr><td>90400</td><td>Scleromyxedema without monoclonal gammopathy</td></tr><tr><td>905</td><td>Wilson disease</td></tr><tr><td>906</td><td>Wiskott-Aldrich syndrome</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>908</td><td>Fragile X syndrome</td></tr><tr><td>909</td><td>Cerebrotendinous xanthomatosis</td></tr><tr><td>91</td><td>Aromatase deficiency</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>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>912</td><td>Zellweger syndrome</td></tr><tr><td>913</td><td>Zollinger-Ellison syndrome</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>915</td><td>Aarskog-Scott syndrome</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>916</td><td>Aase-Smith syndrome</td></tr><tr><td>920</td><td>Ablepharon macrostomia syndrome</td></tr><tr><td>92050</td><td>Congenital tufting enteropathy</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>93</td><td>Aspartylglucosaminuria</td></tr><tr><td>930</td><td>Idiopathic achalasia</td></tr><tr><td>931</td><td>Acheiropodia</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>932</td><td>Achondrogenesis</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>Ulnar hemimelia</td></tr><tr><td>93321</td><td>Radial hemimelia</td></tr><tr><td>93322</td><td>Tibial hemimelia</td></tr><tr><td>93323</td><td>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>935</td><td>Short-limb skeletal dysplasia with severe combined immunodeficiency</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>93569</td><td>Polymyalgia rheumatica</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>939</td><td>3-hydroxyisobutyric aciduria</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>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>941</td><td>D-glyceric aciduria</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>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>95</td><td>Friedreich ataxia</td></tr><tr><td>950</td><td>Acrodysostosis</td></tr><tr><td>95159</td><td>Hepatoerythropoietic porphyria</td></tr><tr><td>952</td><td>Acrofacial dysostosis, Weyers type</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>955</td><td>Hajdu-Cheney 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 central diabetes insipidus</td></tr><tr><td>95699</td><td>Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency</td></tr><tr><td>957</td><td>Acropectorovertebral dysplasia</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>958</td><td>Acro-renal-mandibular syndrome</td></tr><tr><td>95854</td><td>Levocardia</td></tr><tr><td>959</td><td>Acro-renal-ocular syndrome</td></tr><tr><td>96</td><td>Ataxia with vitamin E deficiency</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>963</td><td>Acromegaly</td></tr><tr><td>96334</td><td>Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14</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>97</td><td>Familial paroxysmal ataxia</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>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>973</td><td>Congenital absence/hypoplasia of fingers excluding thumb, unilateral</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>974</td><td>Adams-Oliver syndrome</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>976</td><td>Adenine phosphoribosyltransferase deficiency</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>977</td><td>Adrenomyodystrophy</td></tr><tr><td>978</td><td>ADULT syndrome</td></tr><tr><td>98</td><td>Autosomal recessive spastic ataxia of Charlevoix-Saguenay</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>98267</td><td>Genetic non-syndromic obesity</td></tr><tr><td>983</td><td>Testicular regression syndrome</td></tr><tr><td>984</td><td>Pulmonary agenesis</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>988</td><td>Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome</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>Refractory anemia</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>989</td><td>Hypoglossia-hypodactyly syndrome</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 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>98975</td><td>Congenital hereditary endothelial dystrophy type I</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>990</td><td>Agnathia-holoprosencephaly-situs inversus syndrome</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>991</td><td>PAGOD syndrome</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>994</td><td>Fetal akinesia deformation sequence</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>99647</td><td>Cheirospondyloenchondromatosis</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>998</td><td>Albinism-deafness syndrome</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 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>999</td><td>Ermine phenotype</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>Malignant dysgerminomatous germ cell tumor of the ovary</td></tr><tr><td>99914</td><td>Gynandroblastoma</td></tr><tr><td>99915</td><td>Maligant 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></table></li></ul></div>
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  <url value="http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease"/>
  <identifier>
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    <value value="urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.42.63"/>
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  <version value="0.0.1"/>
  <name value="EHDSIRareDisease"/>
  <title value="eHDSI Rare Disease"/>
  <status value="draft"/>
  <experimental value="false"/>
  <date value="2024-04-18T20:56:17+02:00"/>
  <publisher value="MyHealth@Eu"/>
  <contact>
    <name value="MyHealth@Eu"/>
    <telecom>
      <system value="url"/>
      <value
             value="https://health.ec.europa.eu/other-pages/basic-page/myhealtheu-flyer-addressed-patients-and-health-professionals_en"/>
    </telecom>
  </contact>
  <description
               value="The Value Set is used to describe the problems and medication reasons."/>
  <jurisdiction>
    <coding>
      <system value="http://unstats.un.org/unsd/methods/m49/m49.htm"/>
      <code value="150"/>
      <display value="Europe"/>
    </coding>
  </jurisdiction>
  <compose>
    <include>
      <system value="urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.44.5"/>
      <concept>
        <code value="10"/>
        <display value="48,XXYY syndrome"/>
      </concept>
      <concept>
        <code value="100"/>
        <display value="Ataxia-telangiectasia"/>
      </concept>
      <concept>
        <code value="1000"/>
        <display
                 value="Ocular albinism with late-onset sensorineural deafness"/>
      </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="Refractory anemia with excess blasts type 1"/>
      </concept>
      <concept>
        <code value="100020"/>
        <display value="Refractory anemia with excess 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="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="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="101"/>
        <display value="Dentatorubral pallidoluysian atrophy"/>
      </concept>
      <concept>
        <code value="1010"/>
        <display
                 value="Autosomal dominant palmoplantar keratoderma and congenital alopecia"/>
      </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="101096"/>
        <display value="Aregenerative anemia"/>
      </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="1014"/>
        <display
                 value="Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome"/>
      </concept>
      <concept>
        <code value="101685"/>
        <display value="Rare non-syndromic intellectual disability"/>
      </concept>
      <concept>
        <code value="1018"/>
        <display value="X-linked Alport syndrome-diffuse leiomyomatosis"/>
      </concept>
      <concept>
        <code value="101932"/>
        <display value="Anomaly of the mitral subvalvular apparatus"/>
      </concept>
      <concept>
        <code value="102"/>
        <display value="Multiple system atrophy"/>
      </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="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="1027"/>
        <display value="Autosomal recessive amelia"/>
      </concept>
      <concept>
        <code value="102724"/>
        <display
                 value="Acute myeloid leukemia with t(8;21)(q22;q22) translocation"/>
      </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="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="104"/>
        <display value="Leber hereditary optic neuropathy"/>
      </concept>
      <concept>
        <code value="1040"/>
        <display value="Metaphyseal anadysplasia"/>
      </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="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="105"/>
        <display value="Atresia of urethra"/>
      </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="107"/>
        <display value="BOR 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="108"/>
        <display value="Babesiosis"/>
      </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="109"/>
        <display value="Bannayan-Riley-Ruvalcaba syndrome"/>
      </concept>
      <concept>
        <code value="1094"/>
        <display value="Anonychia-microcephaly syndrome"/>
      </concept>
      <concept>
        <code value="11"/>
        <display value="Pentasomy X"/>
      </concept>
      <concept>
        <code value="110"/>
        <display value="Bardet-Biedl 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="111"/>
        <display value="Barth syndrome"/>
      </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="112"/>
        <display value="Bartter 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="113"/>
        <display value="Bazex-Dupré-Christol 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="114"/>
        <display value="Auriculoosteodysplasia"/>
      </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="115"/>
        <display value="Congenital contractural arachnodactyly"/>
      </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="116"/>
        <display value="Beckwith-Wiedemann syndrome"/>
      </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="117"/>
        <display value="Behçet disease"/>
      </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="118"/>
        <display value="Beta-mannosidosis"/>
      </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="119"/>
        <display
                 value="Beta-sarcoglycan-related limb-girdle muscular dystrophy R4"/>
      </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="122"/>
        <display value="Birt-Hogg-Dubé 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="123"/>
        <display value="Björnstad 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="124"/>
        <display value="Diamond-Blackfan anemia"/>
      </concept>
      <concept>
        <code value="1240"/>
        <display value="Metaphyseal acroscyphodysplasia"/>
      </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="125"/>
        <display value="Bloom syndrome"/>
      </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="126"/>
        <display
                 value="Blepharophimosis-ptosis-epicanthus inversus 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="127"/>
        <display value="Borjeson-Forssman-Lehmann syndrome"/>
      </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="128"/>
        <display value="Diphyllobothriasis"/>
      </concept>
      <concept>
        <code value="129"/>
        <display value="Pseudopelade of Brocq"/>
      </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="13"/>
        <display value="6-pyruvoyl-tetrahydropterin synthase deficiency"/>
      </concept>
      <concept>
        <code value="130"/>
        <display value="Brugada 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="1303"/>
        <display
                 value="Bronchiolitis obliterans with obstructive pulmonary disease"/>
      </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="131"/>
        <display value="Budd-Chiari syndrome"/>
      </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="132"/>
        <display value="Butyrylcholinesterase deficiency"/>
      </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="133"/>
        <display value="Chronic beryllium disease"/>
      </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="134"/>
        <display value="Beta-ketothiolase deficiency"/>
      </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="135"/>
        <display value="CACH syndrome"/>
      </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="136"/>
        <display
                 value="Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy"/>
      </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="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="1377"/>
        <display value="Cataract-microcornea syndrome"/>
      </concept>
      <concept>
        <code value="137754"/>
        <display
                 value="Neurological conditions associated with 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="Laryngotracheal angioma"/>
      </concept>
      <concept>
        <code value="138"/>
        <display value="CHARGE 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="139"/>
        <display value="CHILD 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="139396"/>
        <display value="X-linked cerebral adrenoleukodystrophy"/>
      </concept>
      <concept>
        <code value="139399"/>
        <display value="Adrenomyeloneuropathy"/>
      </concept>
      <concept>
        <code value="1394"/>
        <display value="Cerebrofaciothoracic dysplasia"/>
      </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="Jeavons syndrome"/>
      </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="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="14"/>
        <display value="Abetalipoproteinemia"/>
      </concept>
      <concept>
        <code value="140"/>
        <display value="Campomelic dysplasia"/>
      </concept>
      <concept>
        <code value="1401"/>
        <display value="CHAND syndrome"/>
      </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="1406"/>
        <display value="Charlie M syndrome"/>
      </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="141"/>
        <display value="Canavan disease"/>
      </concept>
      <concept>
        <code value="1410"/>
        <display value="Uncombable hair syndrome"/>
      </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="1412"/>
        <display value="Tarsal-carpal coalition syndrome"/>
      </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="141327"/>
        <display value="Orofaciodigital syndrome type 12"/>
      </concept>
      <concept>
        <code value="141330"/>
        <display value="Orofaciodigital syndrome type 13"/>
      </concept>
      <concept>
        <code value="141333"/>
        <display value="Biemond syndrome type 2"/>
      </concept>
      <concept>
        <code value="1414"/>
        <display value="Cholestasis-lymphedema syndrome"/>
      </concept>
      <concept>
        <code value="1415"/>
        <display
                 value="Cholestasis-pigmentary retinopathy-cleft palate syndrome"/>
      </concept>
      <concept>
        <code value="1416"/>
        <display value="Familial calcium pyrophosphate deposition"/>
      </concept>
      <concept>
        <code value="142"/>
        <display value="Anaplastic thyroid carcinoma"/>
      </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="143"/>
        <display value="Parathyroid carcinoma"/>
      </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="144"/>
        <display value="Lynch 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="145"/>
        <display value="Hereditary breast and/or ovarian cancer 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="1455"/>
        <display value="Autosomal dominant coarctation of aorta"/>
      </concept>
      <concept>
        <code value="1456"/>
        <display value="Atypical coarctation of aorta"/>
      </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="146"/>
        <display value="Differentiated thyroid carcinoma"/>
      </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="147"/>
        <display value="Carbamoyl-phosphate synthetase 1 deficiency"/>
      </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="15"/>
        <display value="Achondroplasia"/>
      </concept>
      <concept>
        <code value="150"/>
        <display value="Nasopharyngeal carcinoma"/>
      </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="154"/>
        <display value="Familial isolated dilated cardiomyopathy"/>
      </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="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="156"/>
        <display value="Carnitine palmitoyl transferase 1A deficiency"/>
      </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="1562"/>
        <display value="Dacryocystitis-osteopoikilosis syndrome"/>
      </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="156728"/>
        <display value="Spondyloepimetaphyseal dysplasia, matrilin-3 type"/>
      </concept>
      <concept>
        <code value="156731"/>
        <display value="Dyssegmental dysplasia, Rolland-Desbuquois type"/>
      </concept>
      <concept>
        <code value="1568"/>
        <display
                 value="X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome"/>
      </concept>
      <concept>
        <code value="157"/>
        <display value="Carnitine palmitoyltransferase II deficiency"/>
      </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="157215"/>
        <display
                 value="Hereditary hypophosphatemic rickets with hypercalciuria"/>
      </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="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="1578"/>
        <display value="Pterin-4 alpha-carbinolamine dehydratase deficiency"/>
      </concept>
      <concept>
        <code value="157801"/>
        <display
                 value="Mesoaxial synostotic syndactyly with phalangeal reduction"/>
      </concept>
      <concept>
        <code value="157808"/>
        <display value="Congenital 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="158"/>
        <display value="Systemic primary carnitine deficiency"/>
      </concept>
      <concept>
        <code value="1580"/>
        <display value="Distal deletion 10p"/>
      </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="1581"/>
        <display value="Non-distal deletion 10q"/>
      </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="1587"/>
        <display value="Monosomy 13q14"/>
      </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="159"/>
        <display value="Carnitine-acylcarnitine translocase deficiency"/>
      </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="16"/>
        <display value="Blue cone monochromatism"/>
      </concept>
      <concept>
        <code value="160"/>
        <display value="Castleman disease"/>
      </concept>
      <concept>
        <code value="1600"/>
        <display value="Monosomy 18q"/>
      </concept>
      <concept>
        <code value="160148"/>
        <display value="Cap polyposis"/>
      </concept>
      <concept>
        <code value="1606"/>
        <display value="1p36 deletion syndrome"/>
      </concept>
      <concept>
        <code value="1617"/>
        <display value="2q24 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="162"/>
        <display value="Cataract-glaucoma syndrome"/>
      </concept>
      <concept>
        <code value="1620"/>
        <display value="Distal deletion 3p"/>
      </concept>
      <concept>
        <code value="1621"/>
        <display value="3q13 microdeletion syndrome"/>
      </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="1627"/>
        <display value="Deletion 5q35"/>
      </concept>
      <concept>
        <code value="163"/>
        <display value="Hereditary hyperferritinemia-cataract syndrome"/>
      </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="1636"/>
        <display value="Distal monosomy 7q36"/>
      </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="1642"/>
        <display value="Distal deletion 9p"/>
      </concept>
      <concept>
        <code value="1643"/>
        <display value="Xp22.3 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="1646"/>
        <display value="Partial chromosome Y deletion"/>
      </concept>
      <concept>
        <code value="1647"/>
        <display value="Oculocerebrocutaneous 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="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="165805"/>
        <display
                 value="Familial mesial temporal lobe epilepsy with febrile seizures"/>
      </concept>
      <concept>
        <code value="1659"/>
        <display value="Dermatoleukodystrophy"/>
      </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="1660"/>
        <display value="Dermoodontodysplasia"/>
      </concept>
      <concept>
        <code value="166002"/>
        <display
                 value="Multiple epiphyseal dysplasia due to collagen 9 anomaly"/>
      </concept>
      <concept>
        <code value="166011"/>
        <display value="Multiple epiphyseal dysplasia, Beighton type"/>
      </concept>
      <concept>
        <code value="166016"/>
        <display value="Multiple epiphyseal dysplasia, Lowry type"/>
      </concept>
      <concept>
        <code value="166024"/>
        <display value="Multiple epiphyseal dysplasia, Al-Gazali type"/>
      </concept>
      <concept>
        <code value="166029"/>
        <display
                 value="Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia"/>
      </concept>
      <concept>
        <code value="166032"/>
        <display value="Multiple epiphyseal dysplasia, with miniepiphyses"/>
      </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="1661"/>
        <display value="X-linked corneal dermoid"/>
      </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="1662"/>
        <display value="Restrictive dermopathy"/>
      </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="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="167"/>
        <display value="Chédiak-Higashi 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="167635"/>
        <display value="Scleromyxedema"/>
      </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="168"/>
        <display value="Loose anagen syndrome"/>
      </concept>
      <concept>
        <code value="1681"/>
        <display value="Diprosopus"/>
      </concept>
      <concept>
        <code value="1682"/>
        <display value="Arterial dissection-lentiginosis syndrome"/>
      </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="168486"/>
        <display value="Congenital neuronal ceroid lipofuscinosis"/>
      </concept>
      <concept>
        <code value="168491"/>
        <display value="Late infantile neuronal ceroid lipofuscinosis"/>
      </concept>
      <concept>
        <code value="1685"/>
        <display value="Distomatosis"/>
      </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="1686"/>
        <display value="Cardiac diverticulum"/>
      </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 cystic mesothelioma"/>
      </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="169"/>
        <display value="Ringed hair disease"/>
      </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 infection 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="1692"/>
        <display value="Mosaic trisomy 1"/>
      </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="1695"/>
        <display value="Non-distal duplication 10q"/>
      </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="1698"/>
        <display value="Mosaic trisomy 12"/>
      </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="1699"/>
        <display value="Trisomy 12p"/>
      </concept>
      <concept>
        <code value="17"/>
        <display
                 value="Fatal infantile lactic acidosis with methylmalonic aciduria"/>
      </concept>
      <concept>
        <code value="170"/>
        <display value="Woolly hair"/>
      </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="171"/>
        <display value="Primary sclerosing cholangitis"/>
      </concept>
      <concept>
        <code value="1711"/>
        <display value="Mosaic trisomy 17"/>
      </concept>
      <concept>
        <code value="171220"/>
        <display value="Rectal duplication"/>
      </concept>
      <concept>
        <code value="1713"/>
        <display value="17p11.2 microduplication syndrome"/>
      </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="1715"/>
        <display value="Trisomy 18p"/>
      </concept>
      <concept>
        <code value="1716"/>
        <display value="Distal duplication 18q"/>
      </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="1717"/>
        <display value="Distal duplication 19q"/>
      </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="172"/>
        <display value="Progressive familial intrahepatic cholestasis"/>
      </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="173"/>
        <display value="Cholera"/>
      </concept>
      <concept>
        <code value="1738"/>
        <display value="Trisomy 4p"/>
      </concept>
      <concept>
        <code value="174"/>
        <display value="Metaphyseal chondrodysplasia, Schmid type"/>
      </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="175"/>
        <display value="Cartilage-hair hypoplasia"/>
      </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="1765"/>
        <display value="Dyschondrosteosis-nephritis syndrome"/>
      </concept>
      <concept>
        <code value="1766"/>
        <display value="Dysequilibrium syndrome"/>
      </concept>
      <concept>
        <code value="1768"/>
        <display value="Familial caudal dysgenesis"/>
      </concept>
      <concept>
        <code value="177"/>
        <display value="Rhizomelic chondrodysplasia punctata"/>
      </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="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="178"/>
        <display value="Chordoma"/>
      </concept>
      <concept>
        <code value="1780"/>
        <display value="Thakker-Donnai syndrome"/>
      </concept>
      <concept>
        <code value="178029"/>
        <display value="Central diabetes insipidus"/>
      </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="1782"/>
        <display value="Dysosteosclerosis"/>
      </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="1784"/>
        <display value="Acrofrontofacionasal dysostosis"/>
      </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="178493"/>
        <display value="Myopic macular degeneration"/>
      </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="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="179"/>
        <display value="Birdshot chorioretinopathy"/>
      </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="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="1795"/>
        <display value="Peripheral dysostosis"/>
      </concept>
      <concept>
        <code value="1797"/>
        <display value="Autosomal dominant spondylocostal dysostosis"/>
      </concept>
      <concept>
        <code value="1798"/>
        <display value="Dysostosis, Stanescu type"/>
      </concept>
      <concept>
        <code value="1799"/>
        <display value="Familial developmental dysphasia"/>
      </concept>
      <concept>
        <code value="18"/>
        <display value="Distal renal tubular acidosis"/>
      </concept>
      <concept>
        <code value="180"/>
        <display value="Choroideremia"/>
      </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="1801"/>
        <display value="Kyphomelic dysplasia"/>
      </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="1802"/>
        <display value="Ghosal hematodiaphyseal dysplasia"/>
      </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="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="181"/>
        <display value="X-linked hypohidrotic ectodermal dysplasia"/>
      </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="182"/>
        <display value="Chromomycosis"/>
      </concept>
      <concept>
        <code value="182050"/>
        <display value="MYH9-related disease"/>
      </concept>
      <concept>
        <code value="182127"/>
        <display value="Extragonadal germinoma"/>
      </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="183"/>
        <display value="Eosinophilic granulomatosis with polyangiitis"/>
      </concept>
      <concept>
        <code value="1830"/>
        <display value="Schimke immuno-osseous dysplasia"/>
      </concept>
      <concept>
        <code value="1832"/>
        <display value="Lethal 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="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="1837"/>
        <display value="Ulna metaphyseal dysplasia syndrome"/>
      </concept>
      <concept>
        <code value="183707"/>
        <display value="Neutrophil immunodeficiency syndrome"/>
      </concept>
      <concept>
        <code value="183713"/>
        <display
                 value="Bacterial susceptibility due to TLR signaling pathway deficiency"/>
      </concept>
      <concept>
        <code value="1839"/>
        <display value="Hereditary mucoepithelial dysplasia"/>
      </concept>
      <concept>
        <code value="184"/>
        <display value="Cherubism"/>
      </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="185"/>
        <display value="Scimitar syndrome"/>
      </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="186"/>
        <display value="Primary biliary cholangitis"/>
      </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="188"/>
        <display value="Systemic capillary leak syndrome"/>
      </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="189"/>
        <display value="Hidrotic ectodermal dysplasia"/>
      </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="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="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="190"/>
        <display value="Coats disease"/>
      </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="191"/>
        <display value="Cockayne syndrome"/>
      </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="192"/>
        <display value="Coffin-Lowry syndrome"/>
      </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="193"/>
        <display value="Cohen syndrome"/>
      </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="195"/>
        <display value="Cat-eye syndrome"/>
      </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="198"/>
        <display value="Occipital horn syndrome"/>
      </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="Femoral agenesis/hypoplasia"/>
      </concept>
      <concept>
        <code value="1988"/>
        <display value="Femoral-facial syndrome"/>
      </concept>
      <concept>
        <code value="199"/>
        <display value="Cornelia de Lange syndrome"/>
      </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="1993"/>
        <display value="Pai syndrome"/>
      </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="1995"/>
        <display value="Cleft lip-retinopathy syndrome"/>
      </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="1997"/>
        <display value="Blepharo-cheilo-odontic syndrome"/>
      </concept>
      <concept>
        <code value="20"/>
        <display value="3-hydroxy-3-methylglutaric aciduria"/>
      </concept>
      <concept>
        <code value="200"/>
        <display value="Isolated corpus callosum agenesis"/>
      </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="200418"/>
        <display value="Immunodeficiency with factor I anomaly"/>
      </concept>
      <concept>
        <code value="200421"/>
        <display value="Immunodeficiency with factor H anomaly"/>
      </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="201"/>
        <display value="Cowden 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="202"/>
        <display value="Crandall syndrome"/>
      </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="204"/>
        <display value="Sporadic Creutzfeldt-Jakob disease"/>
      </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="205"/>
        <display value="Crigler-Najjar 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="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="2065"/>
        <display value="Galloway-Mowat syndrome"/>
      </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="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="206991"/>
        <display value="Viral myositis"/>
      </concept>
      <concept>
        <code value="206994"/>
        <display value="Bacterial myositis"/>
      </concept>
      <concept>
        <code value="207"/>
        <display value="Crouzon syndrome"/>
      </concept>
      <concept>
        <code value="2070"/>
        <display value="Eosinophilic gastroenteritis"/>
      </concept>
      <concept>
        <code value="207000"/>
        <display value="Fungal myositis"/>
      </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="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="2085"/>
        <display value="Glaucoma-sleep apnea syndrome"/>
      </concept>
      <concept>
        <code value="208513"/>
        <display value="Spinocerebellar ataxia type 29"/>
      </concept>
      <concept>
        <code value="208524"/>
        <display value="Herpetiform pemphigus"/>
      </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="208989"/>
        <display value="Non-paraneoplastic sensory ganglionopathy"/>
      </concept>
      <concept>
        <code value="208999"/>
        <display value="Paraneoplastic sensory ganglionopathy"/>
      </concept>
      <concept>
        <code value="2090"/>
        <display value="GMS syndrome"/>
      </concept>
      <concept>
        <code value="209004"/>
        <display
                 value="Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy"/>
      </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="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="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="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="210"/>
        <display value="Cyclosporiasis"/>
      </concept>
      <concept>
        <code value="2101"/>
        <display value="Grubben-de Cock-Borghgraef syndrome"/>
      </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="2102"/>
        <display value="GTP cyclohydrolase I deficiency"/>
      </concept>
      <concept>
        <code value="210272"/>
        <display value="Mal de débarquement"/>
      </concept>
      <concept>
        <code value="2104"/>
        <display value="Dysmorphism-pectus carinatum-joint laxity syndrome"/>
      </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="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="211"/>
        <display value="Familial cylindromatosis"/>
      </concept>
      <concept>
        <code value="2110"/>
        <display value="Hallux varus-preaxial polysyndactyly syndrome"/>
      </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="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="212"/>
        <display value="Cystathioninuria"/>
      </concept>
      <concept>
        <code value="2122"/>
        <display value="Kaposiform hemangioendothelioma"/>
      </concept>
      <concept>
        <code value="2123"/>
        <display value="Diffuse neonatal hemangiomatosis"/>
      </concept>
      <concept>
        <code value="2126"/>
        <display value="Solitary fibrous tumor"/>
      </concept>
      <concept>
        <code value="2128"/>
        <display value="Isolated hemihyperplasia"/>
      </concept>
      <concept>
        <code value="213"/>
        <display value="Cystinosis"/>
      </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="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="2136"/>
        <display value="Hennekam syndrome"/>
      </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="2137"/>
        <display value="Autoimmune hepatitis"/>
      </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="2138"/>
        <display value="46,XX ovotesticular difference of sex development"/>
      </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="2139"/>
        <display value="Hernández-Aguirre Negrete syndrome"/>
      </concept>
      <concept>
        <code value="214"/>
        <display value="Cystinuria"/>
      </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="215"/>
        <display value="Congenital stationary night blindness"/>
      </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="216694"/>
        <display
                 value="Congenitally corrected transposition of the great arteries"/>
      </concept>
      <concept>
        <code value="2167"/>
        <display value="Holzgreve syndrome"/>
      </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="2169"/>
        <display value="Methylcobalamin deficiency type cblE"/>
      </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="217"/>
        <display value="Isolated Dandy-Walker malformation"/>
      </concept>
      <concept>
        <code value="2170"/>
        <display value="Methylcobalamin deficiency type cblG"/>
      </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 congenital digital 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="2172"/>
        <display
                 value="Microcephaly-glomerulonephritis-marfanoid habitus syndrome"/>
      </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="2176"/>
        <display value="Infantile systemic hyalinosis"/>
      </concept>
      <concept>
        <code value="217622"/>
        <display value="Sensorineural deafness with dilated cardiomyopathy"/>
      </concept>
      <concept>
        <code value="217656"/>
        <display
                 value="Familial isolated arrhythmogenic right ventricular dysplasia"/>
      </concept>
      <concept>
        <code value="2177"/>
        <display value="Hydranencephaly"/>
      </concept>
      <concept>
        <code value="218"/>
        <display value="Darier disease"/>
      </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="219"/>
        <display
                 value="Delta-sarcoglycan-related limb-girdle muscular dystrophy R6"/>
      </concept>
      <concept>
        <code value="2194"/>
        <display value="Anti-HLA hyperimmunization"/>
      </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="22"/>
        <display value="Succinic semialdehyde dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="220"/>
        <display value="Denys-Drash syndrome"/>
      </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="220295"/>
        <display value="Xeroderma pigmentosum-Cockayne syndrome complex"/>
      </concept>
      <concept>
        <code value="2203"/>
        <display value="Hyperlysinemia"/>
      </concept>
      <concept>
        <code value="220386"/>
        <display value="Semilobar holoprosencephaly"/>
      </concept>
      <concept>
        <code value="220393"/>
        <display value="Diffuse cutaneous systemic sclerosis"/>
      </concept>
      <concept>
        <code value="2204"/>
        <display
                 value="Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type"/>
      </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="2206"/>
        <display value="Ankylosing vertebral hyperostosis with tylosis"/>
      </concept>
      <concept>
        <code value="2209"/>
        <display value="Maternal phenylketonuria"/>
      </concept>
      <concept>
        <code value="221"/>
        <display value="Dermatomyositis"/>
      </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="2211"/>
        <display value="Hypertelorism-hypospadias-polysyndactyly syndrome"/>
      </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="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="222"/>
        <display value="Erosive pustular dermatosis of the scalp"/>
      </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="223"/>
        <display value="Nephrogenic diabetes insipidus"/>
      </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="225"/>
        <display value="Maternally-inherited diabetes and deafness"/>
      </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="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="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="226"/>
        <display value="Dihydropteridine reductase deficiency"/>
      </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="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="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="227"/>
        <display value="Diphallia"/>
      </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="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="2278"/>
        <display
                 value="Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome"/>
      </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="2282"/>
        <display
                 value="Dysmorphism-short stature-deafness-difference of sex development 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="228340"/>
        <display value="CLN4A disease"/>
      </concept>
      <concept>
        <code value="228343"/>
        <display value="CLN4B 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="228357"/>
        <display value="CLN9 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="Polyvalvular heart disease syndrome"/>
      </concept>
      <concept>
        <code value="228415"/>
        <display value="5q35 microduplication syndrome"/>
      </concept>
      <concept>
        <code value="228423"/>
        <display value="Monocytopenia with susceptibility to infections"/>
      </concept>
      <concept>
        <code value="228426"/>
        <display
                 value="Syndromic multisystem autoimmune disease due to Itch deficiency"/>
      </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="229"/>
        <display value="Familial aortic dissection"/>
      </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="229717"/>
        <display value="Isolated agammaglobulinemia"/>
      </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="23"/>
        <display value="Argininosuccinic aciduria"/>
      </concept>
      <concept>
        <code value="230"/>
        <display value="Dopamine beta-hydroxylase deficiency"/>
      </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="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="2309"/>
        <display value="Pachyonychia congenita"/>
      </concept>
      <concept>
        <code value="231"/>
        <display value="Dracunculiasis"/>
      </concept>
      <concept>
        <code value="2310"/>
        <display value="Absence deformity of leg-cataract 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="2311"/>
        <display value="Autosomal recessive spondylocostal dysostosis"/>
      </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="2312"/>
        <display value="Transient familial neonatal hyperbilirubinemia"/>
      </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="2314"/>
        <display value="Autosomal dominant hyper-IgE 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="2315"/>
        <display value="Johanson-Blizzard syndrome"/>
      </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="2316"/>
        <display value="Johnson neuroectodermal syndrome"/>
      </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="2318"/>
        <display value="Joubert syndrome with oculorenal defect"/>
      </concept>
      <concept>
        <code value="2319"/>
        <display value="Juberg-Hayward syndrome"/>
      </concept>
      <concept>
        <code value="232"/>
        <display value="Sickle cell anemia"/>
      </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="233"/>
        <display value="Duane retraction syndrome"/>
      </concept>
      <concept>
        <code value="2330"/>
        <display value="Kasabach-Merritt syndrome"/>
      </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="Non-epidermolytic palmoplantar keratoderma"/>
      </concept>
      <concept>
        <code value="2339"/>
        <display
                 value="Keratosis follicularis-dwarfism-cerebral atrophy syndrome"/>
      </concept>
      <concept>
        <code value="234"/>
        <display value="Dubin-Johnson 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="235"/>
        <display value="Dubowitz 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="236"/>
        <display value="Trisomy 9p"/>
      </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="237"/>
        <display value="Duplication of urethra"/>
      </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="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="238"/>
        <display value="Digestive duplication"/>
      </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="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="2386"/>
        <display
                 value="Leukoencephalopathy-palmoplantar keratoderma syndrome"/>
      </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="2387"/>
        <display value="Leukonychia totalis"/>
      </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="2388"/>
        <display value="Choreoacanthocytosis"/>
      </concept>
      <concept>
        <code value="239"/>
        <display value="Dyggve-Melchior-Clausen disease"/>
      </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="24"/>
        <display value="Fumaric aciduria"/>
      </concept>
      <concept>
        <code value="240"/>
        <display value="Léri-Weill dyschondrosteosis"/>
      </concept>
      <concept>
        <code value="2400"/>
        <display value="Peripheral motor neuropathy-dysautonomia syndrome"/>
      </concept>
      <concept>
        <code value="240071"/>
        <display value="Classic progressive supranuclear palsy syndrome"/>
      </concept>
      <concept>
        <code value="240085"/>
        <display
                 value="Progressive supranuclear palsy-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="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="240760"/>
        <display value="Nijmegen breakage syndrome-like disorder"/>
      </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="241"/>
        <display value="Dyschromatosis universalis hereditaria"/>
      </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="242"/>
        <display value="46,XY complete gonadal dysgenesis"/>
      </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="243"/>
        <display value="46,XX gonadal dysgenesis"/>
      </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="243343"/>
        <display value="Dimethylglycine dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="243367"/>
        <display value="Acute fatty liver of pregnancy"/>
      </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="244"/>
        <display value="Primary ciliary dyskinesia"/>
      </concept>
      <concept>
        <code value="2440"/>
        <display value="Isolated split hand-split foot malformation"/>
      </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="2444"/>
        <display value="Congenital pulmonary airway malformation"/>
      </concept>
      <concept>
        <code value="245"/>
        <display value="Nager syndrome"/>
      </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="246"/>
        <display value="Postaxial acrofacial dysostosis"/>
      </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="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="2473"/>
        <display value="McKusick-Kaufman 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="2475"/>
        <display value="White forelock with malformations"/>
      </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="2476"/>
        <display
                 value="Dysraphism-cleft lip/palate-limb reduction defects syndrome"/>
      </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="2477"/>
        <display value="Megalencephaly"/>
      </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="2478"/>
        <display
                 value="Megalencephalic leukoencephalopathy with subcortical cysts"/>
      </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="2479"/>
        <display value="Megalocornea-intellectual disability syndrome"/>
      </concept>
      <concept>
        <code value="248"/>
        <display
                 value="Autosomal recessive hypohidrotic ectodermal dysplasia"/>
      </concept>
      <concept>
        <code value="2481"/>
        <display value="Neurocutaneous melanocytosis"/>
      </concept>
      <concept>
        <code value="248111"/>
        <display value="Juvenile Huntington disease"/>
      </concept>
      <concept>
        <code value="2482"/>
        <display value="Melhem-Fahl syndrome"/>
      </concept>
      <concept>
        <code value="2483"/>
        <display value="Melkersson-Rosenthal syndrome"/>
      </concept>
      <concept>
        <code value="248340"/>
        <display value="Isolated delta-storage pool disease"/>
      </concept>
      <concept>
        <code value="2484"/>
        <display value="Melnick-Needles syndrome"/>
      </concept>
      <concept>
        <code value="248408"/>
        <display value="Familial hypodysfibrinogenemia"/>
      </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="249"/>
        <display value="Fibrous dysplasia of bone"/>
      </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"/>
      </concept>
      <concept>
        <code value="2498"/>
        <display value="Syndactyly type 8"/>
      </concept>
      <concept>
        <code value="2499"/>
        <display value="Metachondromatosis"/>
      </concept>
      <concept>
        <code value="25"/>
        <display value="Glutaryl-CoA dehydrogenase deficiency"/>
      </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="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="2510"/>
        <display value="Micro 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 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="2511"/>
        <display value="Microbrachycephaly-ptosis-cleft lip syndrome"/>
      </concept>
      <concept>
        <code value="2512"/>
        <display value="Autosomal recessive primary microcephaly"/>
      </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="2513"/>
        <display value="Microcephaly-albinism-digital anomalies syndrome"/>
      </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="2514"/>
        <display value="Autosomal dominant primary microcephaly"/>
      </concept>
      <concept>
        <code value="2515"/>
        <display value="Microcephaly-cardiomyopathy syndrome"/>
      </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="2516"/>
        <display
                 value="Microcephaly-cardiac defect-lung malsegmentation syndrome"/>
      </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="2518"/>
        <display
                 value="Autosomal recessive chorioretinopathy-microcephaly syndrome"/>
      </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="251880"/>
        <display value="Ependymoblastoma"/>
      </concept>
      <concept>
        <code value="251883"/>
        <display value="Medulloepithelioma of the central nervous system"/>
      </concept>
      <concept>
        <code value="251899"/>
        <display value="Choroid plexus carcinoma"/>
      </concept>
      <concept>
        <code value="2519"/>
        <display
                 value="Microcephaly-seizures-intellectual disability-heart disease syndrome"/>
      </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 differenciation"/>
      </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="2521"/>
        <display
                 value="Microcephaly-cleft palate-abnormal retinal pigmentation syndrome"/>
      </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="2522"/>
        <display
                 value="Microcephaly-cervical spine fusion anomalies syndrome"/>
      </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="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="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="2547"/>
        <display value="Microphthalmia-microtia-fetal akinesia syndrome"/>
      </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="2549"/>
        <display value="Oculoauriculovertebral spectrum with radial defects"/>
      </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="2551"/>
        <display value="Microspherophakia-metaphyseal dysplasia syndrome"/>
      </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="2552"/>
        <display value="Microsporidiosis"/>
      </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="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="256"/>
        <display value="Early-onset generalized limb-onset dystonia"/>
      </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="257"/>
        <display
                 value="Epidermolysis bullosa simplex with muscular dystrophy"/>
      </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="258"/>
        <display
                 value="Laminin subunit alpha 2-related congenital muscular dystrophy"/>
      </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="25968"/>
        <display value="Benign occipital epilepsy"/>
      </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="25980"/>
        <display value="X-linked myopathy with excessive autophagy"/>
      </concept>
      <concept>
        <code value="26"/>
        <display value="Methylmalonic acidemia with homocystinuria"/>
      </concept>
      <concept>
        <code value="260305"/>
        <display value="Autosomal recessive 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="261"/>
        <display value="Emery-Dreifuss muscular dystrophy"/>
      </concept>
      <concept>
        <code value="26106"/>
        <display value="Hereditary diffuse gastric cancer"/>
      </concept>
      <concept>
        <code value="2611"/>
        <display value="Linear verrucous nevus syndrome"/>
      </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="15q14 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="261197"/>
        <display value="Proximal 16p11.2 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="2612"/>
        <display value="Linear nevus sebaceus 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="2613"/>
        <display value="Nail-patella-like renal disease"/>
      </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="26137"/>
        <display value="Juvenile temporal arteritis"/>
      </concept>
      <concept>
        <code value="2614"/>
        <display value="Nail-patella 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="2616"/>
        <display value="3M syndrome"/>
      </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="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="263297"/>
        <display
                 value="Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency"/>
      </concept>
      <concept>
        <code value="2633"/>
        <display value="Mesomelic dysplasia, Nievergelt type"/>
      </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="2634"/>
        <display value="Mesomelic dwarfism, Reinhardt-Pfeiffer type"/>
      </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="26348"/>
        <display value="Acquired prothrombin deficiency"/>
      </concept>
      <concept>
        <code value="263482"/>
        <display value="Spondyloepiphyseal dysplasia, Maroteaux type"/>
      </concept>
      <concept>
        <code value="263487"/>
        <display value="COG5-CDG"/>
      </concept>
      <concept>
        <code value="26349"/>
        <display value="Protein S acquired deficiency"/>
      </concept>
      <concept>
        <code value="263494"/>
        <display value="DPM3-CDG"/>
      </concept>
      <concept>
        <code value="2635"/>
        <display value="Metatropic dysplasia"/>
      </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="2636"/>
        <display
                 value="Microcephalic osteodysplastic primordial dwarfism types I and III"/>
      </concept>
      <concept>
        <code value="263662"/>
        <display value="Familial multiple meningioma"/>
      </concept>
      <concept>
        <code value="263665"/>
        <display value="NK-cell enteropathy"/>
      </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="264200"/>
        <display value="14q22q23 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="2643"/>
        <display value="Microcephalic primordial dwarfism, Toriello type"/>
      </concept>
      <concept>
        <code value="264450"/>
        <display value="Trisomy 8p"/>
      </concept>
      <concept>
        <code value="2645"/>
        <display value="Osteoglosphonic dysplasia"/>
      </concept>
      <concept>
        <code value="264580"/>
        <display
                 value="Glycogen storage disease due to liver phosphorylase kinase deficiency"/>
      </concept>
      <concept>
        <code value="2646"/>
        <display value="Parastremmatic dwarfism"/>
      </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="2653"/>
        <display
                 value="Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome"/>
      </concept>
      <concept>
        <code value="2655"/>
        <display value="Thanatophoric dysplasia"/>
      </concept>
      <concept>
        <code value="2658"/>
        <display value="Lenz-Majewski hyperostotic dwarfism"/>
      </concept>
      <concept>
        <code value="266"/>
        <display
                 value="Autosomal dominant limb-girdle muscular dystrophy type 1A"/>
      </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="267"/>
        <display value="Calpain-3-related limb-girdle muscular dystrophy R1"/>
      </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="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="268"/>
        <display value="Dysferlin-related limb-girdle muscular dystrophy R2"/>
      </concept>
      <concept>
        <code value="2680"/>
        <display value="Hypomyelination neuropathy-arthrogryposis syndrome"/>
      </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="2686"/>
        <display value="Cyclic neutropenia"/>
      </concept>
      <concept>
        <code value="2688"/>
        <display value="Adult idiopathic neutropenia"/>
      </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="269"/>
        <display value="Facioscapulohumeral dystrophy"/>
      </concept>
      <concept>
        <code value="2690"/>
        <display value="Neutropenia-monocytopenia-deafness syndrome"/>
      </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="2695"/>
        <display value="Bifid nose"/>
      </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="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="27"/>
        <display value="Vitamin B12-unresponsive methylmalonic acidemia"/>
      </concept>
      <concept>
        <code value="270"/>
        <display value="Oculopharyngeal muscular dystrophy"/>
      </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="Ochoa 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="272"/>
        <display value="Congenital muscular dystrophy, Fukuyama 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="2729"/>
        <display value="Okamoto syndrome"/>
      </concept>
      <concept>
        <code value="273"/>
        <display value="Steinert myotonic dystrophy"/>
      </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="274"/>
        <display value="Bernard-Soulier syndrome"/>
      </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="275"/>
        <display
                 value="Severe combined immunodeficiency due to DCLRE1C deficiency"/>
      </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="2752"/>
        <display value="Orofaciodigital syndrome type 3"/>
      </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="275517"/>
        <display
                 value="Autoimmune lymphoproliferative syndrome with recurrent viral infections"/>
      </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="2756"/>
        <display value="Orofaciodigital syndrome type 10"/>
      </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="2759"/>
        <display
                 value="Imperforate oropharynx-costovertebral anomalies syndrome"/>
      </concept>
      <concept>
        <code value="275944"/>
        <display
                 value="Hemolytic disease of the newborn with Kell alloimmunization"/>
      </concept>
      <concept>
        <code value="276"/>
        <display
                 value="T-B+ severe combined immunodeficiency due to gamma chain deficiency"/>
      </concept>
      <concept>
        <code value="2760"/>
        <display value="OSLAM syndrome"/>
      </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="2762"/>
        <display value="Progressive osseous heteroplasia"/>
      </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="2763"/>
        <display value="Osteocraniostenosis"/>
      </concept>
      <concept>
        <code value="276399"/>
        <display value="Familial multinodular goiter"/>
      </concept>
      <concept>
        <code value="2764"/>
        <display value="Osteochondritis dissecans"/>
      </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="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="277"/>
        <display
                 value="Severe combined immunodeficiency due to adenosine deaminase deficiency"/>
      </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="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="28"/>
        <display value="Vitamin B12-responsive methylmalonic acidemia"/>
      </concept>
      <concept>
        <code value="280"/>
        <display value="Wolf-Hirschhorn syndrome"/>
      </concept>
      <concept>
        <code value="2800"/>
        <display value="Extramammary Paget disease"/>
      </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="2801"/>
        <display value="Juvenile Paget disease"/>
      </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="2802"/>
        <display
                 value="X-linked sideroblastic anemia and spinocerebellar ataxia"/>
      </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="2804"/>
        <display value="W syndrome"/>
      </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="2805"/>
        <display value="Partial pancreatic agenesis"/>
      </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="2806"/>
        <display value="Subacute sclerosing leukoencephalitis"/>
      </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="2807"/>
        <display value="Papilloma of choroid plexus"/>
      </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="2808"/>
        <display value="Laryngeal abductor paralysis"/>
      </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="2809"/>
        <display value="Familial recurrent peripheral facial palsy"/>
      </concept>
      <concept>
        <code value="280917"/>
        <display value="Idiopathic posterior uveitis"/>
      </concept>
      <concept>
        <code value="280921"/>
        <display value="Idiopathic panuveitis"/>
      </concept>
      <concept>
        <code value="281"/>
        <display value="Monosomy 5p"/>
      </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="2812"/>
        <display value="Parana hard skin syndrome"/>
      </concept>
      <concept>
        <code value="281201"/>
        <display
                 value="Keratosis linearis-ichthyosis congenita-sclerosing keratoderma 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="282166"/>
        <display value="Inherited Creutzfeldt-Jakob disease"/>
      </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="283"/>
        <display value="Demodicidosis"/>
      </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="28378"/>
        <display value="Tyrosinemia type 2"/>
      </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="284"/>
        <display value="Alveolar echinococcosis"/>
      </concept>
      <concept>
        <code value="2840"/>
        <display
                 value="Pelvic dysplasia-arthrogryposis of lower limbs syndrome"/>
      </concept>
      <concept>
        <code value="2841"/>
        <display value="Familial benign chronic pemphigus"/>
      </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="2842"/>
        <display value="Penoscrotal transposition"/>
      </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="2843"/>
        <display value="Pentosuria"/>
      </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="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="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="285"/>
        <display value="Hypermobile Ehlers-Danlos 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="286"/>
        <display value="Vascular Ehlers-Danlos 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="287"/>
        <display value="Classical Ehlers-Danlos 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="2878"/>
        <display
                 value="Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome"/>
      </concept>
      <concept>
        <code value="2879"/>
        <display value="Phocomelia, Schinzel type"/>
      </concept>
      <concept>
        <code value="288"/>
        <display value="Hereditary elliptocytosis"/>
      </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="289"/>
        <display value="Ellis Van Creveld syndrome"/>
      </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="289157"/>
        <display value="Hypocalcemic vitamin D-dependent rickets"/>
      </concept>
      <concept>
        <code value="289176"/>
        <display value="Autosomal recessive hypophosphatemic rickets"/>
      </concept>
      <concept>
        <code value="2892"/>
        <display value="Pilodental dysplasia-refractive errors syndrome"/>
      </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="2896"/>
        <display value="Pitt-Hopkins syndrome"/>
      </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 of the elderly"/>
      </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="2897"/>
        <display value="Pityriasis rubra pilaris"/>
      </concept>
      <concept>
        <code value="2898"/>
        <display
                 value="X-linked intellectual disability-plagiocephaly syndrome"/>
      </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="2899"/>
        <display value="Brachyolmia-amelogenesis imperfecta syndrome"/>
      </concept>
      <concept>
        <code value="289916"/>
        <display
                 value="Vitamin B12-unresponsive methylmalonic acidemia type mut0"/>
      </concept>
      <concept>
        <code value="29"/>
        <display value="Mevalonic aciduria"/>
      </concept>
      <concept>
        <code value="290"/>
        <display value="Congenital rubella 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="29072"/>
        <display value="Hereditary pheochromocytoma-paraganglioma"/>
      </concept>
      <concept>
        <code value="29073"/>
        <display value="Multiple myeloma"/>
      </concept>
      <concept>
        <code value="2908"/>
        <display value="Kindler epidermolysis bullosa"/>
      </concept>
      <concept>
        <code value="2909"/>
        <display value="Rothmund-Thomson syndrome"/>
      </concept>
      <concept>
        <code value="291"/>
        <display value="Congenital varicella 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="292"/>
        <display value="Congenital enterovirus infection"/>
      </concept>
      <concept>
        <code value="2920"/>
        <display value="Oliver syndrome"/>
      </concept>
      <concept>
        <code value="29207"/>
        <display value="Reactive arthritis"/>
      </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="293"/>
        <display value="Congenital herpes simplex virus infection"/>
      </concept>
      <concept>
        <code value="2930"/>
        <display value="Cronkhite-Canada syndrome"/>
      </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="2932"/>
        <display value="Chronic inflammatory demyelinating polyneuropathy"/>
      </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="2934"/>
        <display value="Polysyndactyly-cardiac malformation syndrome"/>
      </concept>
      <concept>
        <code value="293462"/>
        <display value="Pre-Descemet corneal dystrophy"/>
      </concept>
      <concept>
        <code value="2935"/>
        <display value="Crossed polysyndactyly"/>
      </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="Familial isolated arrhythmogenic ventricular dysplasia, left dominant form"/>
      </concept>
      <concept>
        <code value="293899"/>
        <display
                 value="Familial isolated arrhythmogenic ventricular dysplasia, biventricular form"/>
      </concept>
      <concept>
        <code value="293910"/>
        <display
                 value="Familial isolated arrhythmogenic ventricular dysplasia, right dominant form"/>
      </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="294"/>
        <display value="Fetal cytomegalovirus syndrome"/>
      </concept>
      <concept>
        <code value="2940"/>
        <display value="Porencephaly"/>
      </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="2941"/>
        <display
                 value="Porencephaly-cerebellar hypoplasia-internal malformations syndrome"/>
      </concept>
      <concept>
        <code value="2942"/>
        <display value="Postpoliomyelitis syndrome"/>
      </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="2946"/>
        <display value="Brachydactyly-long thumb syndrome"/>
      </concept>
      <concept>
        <code value="2947"/>
        <display value="Triphalangeal thumbs-brachyectrodactyly syndrome"/>
      </concept>
      <concept>
        <code value="294967"/>
        <display value="Amelia of upper limb"/>
      </concept>
      <concept>
        <code value="294969"/>
        <display value="Amelia of lower limb"/>
      </concept>
      <concept>
        <code value="294971"/>
        <display value="Tetra-amelia"/>
      </concept>
      <concept>
        <code value="294973"/>
        <display value="Humeral agenesis/hypoplasia"/>
      </concept>
      <concept>
        <code value="294975"/>
        <display
                 value="Congenital absence of upper arm and forearm with hand present"/>
      </concept>
      <concept>
        <code value="294977"/>
        <display
                 value="Congenital absence of thigh and lower leg with foot present"/>
      </concept>
      <concept>
        <code value="294979"/>
        <display value="Congenital absence of both forearm and hand"/>
      </concept>
      <concept>
        <code value="294981"/>
        <display value="Congenital absence of both lower leg and foot"/>
      </concept>
      <concept>
        <code value="294983"/>
        <display value="Acheiria"/>
      </concept>
      <concept>
        <code value="294986"/>
        <display value="Apodia"/>
      </concept>
      <concept>
        <code value="294988"/>
        <display value="Congenital hypoplasia of thumb"/>
      </concept>
      <concept>
        <code value="295"/>
        <display value="Fetal parvovirus syndrome"/>
      </concept>
      <concept>
        <code value="295000"/>
        <display value="Constriction rings syndrome"/>
      </concept>
      <concept>
        <code value="295002"/>
        <display value="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="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="2951"/>
        <display
                 value="Absent thumb-short stature-immunodeficiency syndrome"/>
      </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="2952"/>
        <display
                 value="Adducted thumbs-arthrogryposis syndrome, Christian type"/>
      </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="295213"/>
        <display value="Humero-ulnar synostosis, unilateral"/>
      </concept>
      <concept>
        <code value="295215"/>
        <display value="Humero-ulnar synostosis, bilateral"/>
      </concept>
      <concept>
        <code value="295217"/>
        <display value="Radio-ulnar synostosis, unilateral"/>
      </concept>
      <concept>
        <code value="295219"/>
        <display value="Radio-ulnar synostosis, 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="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="296"/>
        <display value="Ollier disease"/>
      </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="297"/>
        <display value="Tick-borne encephalitis"/>
      </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="298"/>
        <display
                 value="Mitochondrial neurogastrointestinal encephalomyopathy"/>
      </concept>
      <concept>
        <code value="2980"/>
        <display value="Acrootoocular syndrome"/>
      </concept>
      <concept>
        <code value="29822"/>
        <display value="Spontaneous periodic hypothermia"/>
      </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="30"/>
        <display value="Hereditary orotic aciduria"/>
      </concept>
      <concept>
        <code value="300"/>
        <display value="Bifunctional enzyme deficiency"/>
      </concept>
      <concept>
        <code value="3000"/>
        <display value="Familial peripheral male-limited precocious puberty"/>
      </concept>
      <concept>
        <code value="300179"/>
        <display
                 value="Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency"/>
      </concept>
      <concept>
        <code value="3002"/>
        <display value="Immune thrombocytopenia"/>
      </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="3003"/>
        <display value="Pyknoachondrogenesis"/>
      </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="3004"/>
        <display
                 value="Mirror polydactyly-vertebral segmentation-limbs defects syndrome"/>
      </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="3005"/>
        <display value="Pyle disease"/>
      </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="3006"/>
        <display value="Pyridoxine-dependent epilepsy"/>
      </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="3008"/>
        <display value="Pyruvate carboxylase deficiency"/>
      </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="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="302"/>
        <display value="Epidermodysplasia verruciformis"/>
      </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="30391"/>
        <display value="Isolated biliary atresia"/>
      </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="306"/>
        <display value="Benign familial infantile epilepsy"/>
      </concept>
      <concept>
        <code value="3063"/>
        <display value="X-linked intellectual disability, Snyder type"/>
      </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="Sodium channelopathy-related small fiber 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="3068"/>
        <display
                 value="Intellectual disability-myopathy-short stature-endocrine defect syndrome"/>
      </concept>
      <concept>
        <code value="307"/>
        <display value="Juvenile myoclonic epilepsy"/>
      </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="307766"/>
        <display value="Curly hair-acral keratoderma-caries 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="307936"/>
        <display
                 value="Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome"/>
      </concept>
      <concept>
        <code value="308"/>
        <display value="Progressive myoclonic epilepsy type 1"/>
      </concept>
      <concept>
        <code value="3080"/>
        <display value="Intellectual disability, Wolff type"/>
      </concept>
      <concept>
        <code value="308013"/>
        <display value="Focal acral hyperkeratosis"/>
      </concept>
      <concept>
        <code value="3082"/>
        <display
                 value="Intellectual disability-polydactyly-uncombable hair syndrome"/>
      </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="3085"/>
        <display
                 value="Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome"/>
      </concept>
      <concept>
        <code value="308552"/>
        <display
                 value="Glycogen storage disease due to acid maltase deficiency, infantile onset"/>
      </concept>
      <concept>
        <code value="3086"/>
        <display value="Autosomal dominant vitreoretinochoroidopathy"/>
      </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="3088"/>
        <display value="Revesz syndrome"/>
      </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, B variant, infantile form"/>
      </concept>
      <concept>
        <code value="309185"/>
        <display value="Tay-Sachs disease, B variant, juvenile form"/>
      </concept>
      <concept>
        <code value="309192"/>
        <display value="Tay-Sachs disease, B variant, adult form"/>
      </concept>
      <concept>
        <code value="3092"/>
        <display value="Fixed subaortic stenosis"/>
      </concept>
      <concept>
        <code value="309239"/>
        <display value="Tay-Sachs disease, B1 variant"/>
      </concept>
      <concept>
        <code value="30924"/>
        <display value="Primary hypomagnesemia with secondary hypocalcemia"/>
      </concept>
      <concept>
        <code value="309246"/>
        <display value="GM2 gangliosidosis, AB variant"/>
      </concept>
      <concept>
        <code value="30925"/>
        <display value="Hereditary central diabetes insipidus"/>
      </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="3093"/>
        <display value="Congenital aortic valve stenosis"/>
      </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="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="309789"/>
        <display value="Rhizomelic chondrodysplasia punctata type 1"/>
      </concept>
      <concept>
        <code value="309796"/>
        <display value="Rhizomelic chondrodysplasia punctata type 2"/>
      </concept>
      <concept>
        <code value="3098"/>
        <display value="Rhizomelic syndrome, Urbach type"/>
      </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="3099"/>
        <display value="Rheumatic fever"/>
      </concept>
      <concept>
        <code value="31"/>
        <display value="Oxoglutaric aciduria"/>
      </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="31043"/>
        <display
                 value="Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement"/>
      </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="31112"/>
        <display value="Dermatofibrosarcoma protuberans"/>
      </concept>
      <concept>
        <code value="3115"/>
        <display value="Roussy-Lévy syndrome"/>
      </concept>
      <concept>
        <code value="31150"/>
        <display value="Tangier disease"/>
      </concept>
      <concept>
        <code value="312"/>
        <display value="Autosomal dominant epidermolytic ichthyosis"/>
      </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="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="313"/>
        <display value="Lamellar ichthyosis"/>
      </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="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="3138"/>
        <display value="Ulnar-mammary 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="Hereditary diffuse 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="314"/>
        <display value="Erythroderma desquamativum"/>
      </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="3143"/>
        <display value="Autoimmune polyendocrinopathy type 2"/>
      </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="3144"/>
        <display value="Schneckenbecken dysplasia"/>
      </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="3145"/>
        <display
                 value="Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome"/>
      </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="ATP13A2-related juvenile neuronal ceroid lipofuscinosis"/>
      </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="3148"/>
        <display value="Malignant peripheral nerve sheath tumor"/>
      </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="315"/>
        <display value="Erythrokeratoderma ''en cocardes''"/>
      </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="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="3156"/>
        <display value="Senior-Loken syndrome"/>
      </concept>
      <concept>
        <code value="3157"/>
        <display value="Septo-optic dysplasia spectrum"/>
      </concept>
      <concept>
        <code value="316"/>
        <display value="Progressive symmetric erythrokeratodermia"/>
      </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="317"/>
        <display value="Erythrokeratodermia variabilis"/>
      </concept>
      <concept>
        <code value="31709"/>
        <display value="Infantile convulsions and choreoathetosis"/>
      </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="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="X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia"/>
      </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="318"/>
        <display value="Acute erythroid leukemia"/>
      </concept>
      <concept>
        <code value="3180"/>
        <display value="Spondylocamptodactyly syndrome"/>
      </concept>
      <concept>
        <code value="3181"/>
        <display value="Sprengel deformity"/>
      </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="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="319"/>
        <display value="Skeletal Ewing sarcoma"/>
      </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="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="3192"/>
        <display value="Supravalvular pulmonary stenosis"/>
      </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="3193"/>
        <display value="Supravalvular aortic stenosis"/>
      </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="3194"/>
        <display value="Corneodermatoosseous 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="3196"/>
        <display
                 value="Steroid dehydrogenase deficiency-dental anomalies syndrome"/>
      </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="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="32"/>
        <display value="Glutathione synthetase deficiency"/>
      </concept>
      <concept>
        <code value="320"/>
        <display value="Apparent mineralocorticoid excess"/>
      </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="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="3204"/>
        <display value="Stormorken-Sjaastad-Langslet syndrome"/>
      </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="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="321"/>
        <display value="Multiple osteochondromas"/>
      </concept>
      <concept>
        <code value="3210"/>
        <display value="Summitt syndrome"/>
      </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="322"/>
        <display value="Exstrophy-epispadias complex"/>
      </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="3226"/>
        <display value="Deafness-lymphedema-leukemia 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="324"/>
        <display value="Fabry disease"/>
      </concept>
      <concept>
        <code value="3240"/>
        <display
                 value="Central nervous system calcification-deafness-tubular acidosis-anemia syndrome"/>
      </concept>
      <concept>
        <code value="3241"/>
        <display value="Deafness-craniofacial syndrome"/>
      </concept>
      <concept>
        <code value="3242"/>
        <display value="Renpenning syndrome"/>
      </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="3243"/>
        <display value="Sweet syndrome"/>
      </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="3246"/>
        <display
                 value="Symphalangism with multiple anomalies of hands and feet"/>
      </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="3248"/>
        <display value="Distal symphalangism"/>
      </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="325"/>
        <display value="Congenital factor II deficiency"/>
      </concept>
      <concept>
        <code value="3250"/>
        <display value="Proximal symphalangism"/>
      </concept>
      <concept>
        <code value="325124"/>
        <display value="Testicular agenesis"/>
      </concept>
      <concept>
        <code value="3253"/>
        <display value="Cleft lip/palate-ectodermal dysplasia syndrome"/>
      </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="3255"/>
        <display value="Filippi syndrome"/>
      </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="3258"/>
        <display value="Cenani-Lenz syndrome"/>
      </concept>
      <concept>
        <code value="3259"/>
        <display value="Syndactyly-polydactyly-ear lobe syndrome"/>
      </concept>
      <concept>
        <code value="326"/>
        <display value="Congenital factor V deficiency"/>
      </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="Humero-radial synostosis"/>
      </concept>
      <concept>
        <code value="3266"/>
        <display value="Humero-radio-ulnar synostosis"/>
      </concept>
      <concept>
        <code value="3268"/>
        <display
                 value="Radioulnar synostosis-microcephaly-scoliosis syndrome"/>
      </concept>
      <concept>
        <code value="3269"/>
        <display value="Congenital radioulnar synostosis"/>
      </concept>
      <concept>
        <code value="327"/>
        <display value="Congenital factor VII deficiency"/>
      </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="328"/>
        <display value="Congenital factor X deficiency"/>
      </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="329"/>
        <display value="Congenital factor XI deficiency"/>
      </concept>
      <concept>
        <code value="3291"/>
        <display value="Teebi-Shaltout syndrome"/>
      </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="3292"/>
        <display value="Tel Hashomer camptodactyly syndrome"/>
      </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="Intellectual disability-craniofacial dysmorphism-cryptorchidism 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="3293"/>
        <display
                 value="Telecanthus-hypertelorism-strabismus-pes cavus syndrome"/>
      </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="3294"/>
        <display value="Extensor tendons of finger anomalies"/>
      </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 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="32960"/>
        <display
                 value="Tumor necrosis factor receptor 1 associated periodic syndrome"/>
      </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="3299"/>
        <display value="Tetanus"/>
      </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="33"/>
        <display value="Isovaleric acidemia"/>
      </concept>
      <concept>
        <code value="330"/>
        <display value="Congenital factor XII deficiency"/>
      </concept>
      <concept>
        <code value="330001"/>
        <display value="Wild type ATTR amyloidosis"/>
      </concept>
      <concept>
        <code value="33001"/>
        <display value="Lymphedema-distichiasis syndrome"/>
      </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="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="33067"/>
        <display value="Metaphyseal chondrodysplasia, Jansen type"/>
      </concept>
      <concept>
        <code value="33069"/>
        <display value="Dravet syndrome"/>
      </concept>
      <concept>
        <code value="3307"/>
        <display value="Tetrasomy 18p"/>
      </concept>
      <concept>
        <code value="3309"/>
        <display value="Tetrasomy 5p"/>
      </concept>
      <concept>
        <code value="331"/>
        <display value="Congenital factor XIII deficiency"/>
      </concept>
      <concept>
        <code value="3310"/>
        <display value="Tetrasomy 9p"/>
      </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="331176"/>
        <display
                 value="Autosomal recessive 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="3312"/>
        <display value="Thalidomide embryopathy"/>
      </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="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="332"/>
        <display value="Congenital intrinsic factor deficiency"/>
      </concept>
      <concept>
        <code value="3320"/>
        <display value="Thrombocytopenia-absent radius syndrome"/>
      </concept>
      <concept>
        <code value="33208"/>
        <display value="Idiopathic hypersomnia"/>
      </concept>
      <concept>
        <code value="3322"/>
        <display value="Hoyeraal-Hreidarsson syndrome"/>
      </concept>
      <concept>
        <code value="33226"/>
        <display value="Waldenström macroglobulinemia"/>
      </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="33276"/>
        <display value="Kaposi sarcoma"/>
      </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="333"/>
        <display value="Farber disease"/>
      </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="3337"/>
        <display value="Primary Fanconi renotubular syndrome"/>
      </concept>
      <concept>
        <code value="3338"/>
        <display value="Toriello-Carey syndrome"/>
      </concept>
      <concept>
        <code value="3339"/>
        <display value="Toriello-Lacassie-Droste syndrome"/>
      </concept>
      <concept>
        <code value="334"/>
        <display value="Familial atrial fibrillation"/>
      </concept>
      <concept>
        <code value="33402"/>
        <display value="Pediatric hepatocellular carcinoma"/>
      </concept>
      <concept>
        <code value="33408"/>
        <display value="Bullous lichen planus"/>
      </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="33445"/>
        <display value="Neuroectodermal melanolysosomal disease"/>
      </concept>
      <concept>
        <code value="3346"/>
        <display value="Tracheal agenesis"/>
      </concept>
      <concept>
        <code value="3347"/>
        <display value="Mounier-Kühn syndrome"/>
      </concept>
      <concept>
        <code value="33475"/>
        <display value="Meningococcal meningitis"/>
      </concept>
      <concept>
        <code value="3348"/>
        <display value="Tracheobronchopathia osteochondroplastica"/>
      </concept>
      <concept>
        <code value="335"/>
        <display value="Congenital fibrinogen deficiency"/>
      </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="33543"/>
        <display value="Kleine-Levin syndrome"/>
      </concept>
      <concept>
        <code value="3355"/>
        <display value="Trichoodontoonychial dysplasia"/>
      </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="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="337"/>
        <display value="Fibrodysplasia ossificans progressiva"/>
      </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="Truncus arteriosus"/>
      </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="340"/>
        <display value="Hemorrhagic fever-renal syndrome"/>
      </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="34149"/>
        <display
                 value="Autosomal dominant tubulointerstitial kidney disease"/>
      </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="342"/>
        <display value="Familial Mediterranean fever"/>
      </concept>
      <concept>
        <code value="34217"/>
        <display value="Naxos disease"/>
      </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="343"/>
        <display value="Hyperimmunoglobulinemia D with periodic fever"/>
      </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="345"/>
        <display value="Dissecting cellulitis of the scalp"/>
      </concept>
      <concept>
        <code value="3451"/>
        <display value="Infantile spasms syndrome"/>
      </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="3452"/>
        <display value="Whipple disease"/>
      </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="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="34587"/>
        <display value="Glycogen storage disease due to LAMP-2 deficiency"/>
      </concept>
      <concept>
        <code value="3459"/>
        <display value="Wilson-Turner syndrome"/>
      </concept>
      <concept>
        <code value="34592"/>
        <display
                 value="Immunodeficiency by defective expression of MHC class I"/>
      </concept>
      <concept>
        <code value="346"/>
        <display value="Quinquaud folliculitis decalvans"/>
      </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="347"/>
        <display value="Frasier 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="348"/>
        <display value="Fructose-1,6-bisphosphatase deficiency"/>
      </concept>
      <concept>
        <code value="349"/>
        <display value="Fucosidosis"/>
      </concept>
      <concept>
        <code value="35"/>
        <display value="Propionic acidemia"/>
      </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="351"/>
        <display value="Galactosialidosis"/>
      </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="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="353"/>
        <display
                 value="Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5"/>
      </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="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="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="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="35701"/>
        <display value="3-hydroxy-3-methylglutaryl-CoA synthase deficiency"/>
      </concept>
      <concept>
        <code value="357027"/>
        <display value="Hereditary retinoblastoma"/>
      </concept>
      <concept>
        <code value="357034"/>
        <display value="Non-hereditary retinoblastoma"/>
      </concept>
      <concept>
        <code value="35704"/>
        <display value="L-Arginine:glycine amidinotransferase deficiency"/>
      </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="35706"/>
        <display value="Glutaric acidemia type 3"/>
      </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="35708"/>
        <display value="Aromatic L-amino acid decarboxylase deficiency"/>
      </concept>
      <concept>
        <code value="35710"/>
        <display value="Glucose-galactose malabsorption"/>
      </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="Severe 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="35737"/>
        <display value="Morning glory disc anomaly"/>
      </concept>
      <concept>
        <code value="358"/>
        <display value="Gitelman syndrome"/>
      </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="36"/>
        <display value="Acrocallosal syndrome"/>
      </concept>
      <concept>
        <code value="360"/>
        <display value="Glioblastoma"/>
      </concept>
      <concept>
        <code value="361"/>
        <display value="Familial glucocorticoid deficiency"/>
      </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="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="36355"/>
        <display value="Bleeding disorder due to P2Y12 defect"/>
      </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="36367"/>
        <display value="Distal deletion 1q"/>
      </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="36382"/>
        <display value="Familial cervical artery dissection"/>
      </concept>
      <concept>
        <code value="36383"/>
        <display
                 value="COL4A1-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="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="36397"/>
        <display value="Adiposis dolorosa"/>
      </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="364"/>
        <display
                 value="Glycogen storage disease due to glucose-6-phosphatase deficiency"/>
      </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="36412"/>
        <display value="Hypocomplementemic urticarial vasculitis"/>
      </concept>
      <concept>
        <code value="364198"/>
        <display value="Bipartite talus"/>
      </concept>
      <concept>
        <code value="36426"/>
        <display value="Stevens-Johnson syndrome"/>
      </concept>
      <concept>
        <code value="364577"/>
        <display
                 value="Intellectual disability-brachydactyly-Pierre Robin syndrome"/>
      </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="36899"/>
        <display value="Myoclonus-dystonia syndrome"/>
      </concept>
      <concept>
        <code value="369"/>
        <display
                 value="Glycogen storage disease due to liver glycogen phosphorylase deficiency"/>
      </concept>
      <concept>
        <code value="36913"/>
        <display value="Autoimmune hypoparathyroidism"/>
      </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="37"/>
        <display value="Acrodermatitis enteropathica"/>
      </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="37042"/>
        <display
                 value="Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"/>
      </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="371"/>
        <display
                 value="Glycogen storage disease due to muscle phosphofructokinase deficiency"/>
      </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="37202"/>
        <display value="Interstitial cystitis"/>
      </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="37553"/>
        <display value="Andersen-Tawil syndrome"/>
      </concept>
      <concept>
        <code value="37559"/>
        <display value="Acquired kinky hair syndrome"/>
      </concept>
      <concept>
        <code value="376"/>
        <display value="Gordon syndrome"/>
      </concept>
      <concept>
        <code value="37612"/>
        <display value="Episodic ataxia type 1"/>
      </concept>
      <concept>
        <code value="377"/>
        <display value="Gorlin syndrome"/>
      </concept>
      <concept>
        <code value="37748"/>
        <display value="Schnitzler syndrome"/>
      </concept>
      <concept>
        <code value="379"/>
        <display value="Chronic granulomatous disease"/>
      </concept>
      <concept>
        <code value="38"/>
        <display value="Acrokeratoelastoidosis of Costa"/>
      </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="38874"/>
        <display value="Dihydropyrimidinuria"/>
      </concept>
      <concept>
        <code value="389"/>
        <display value="Langerhans cell histiocytosis"/>
      </concept>
      <concept>
        <code value="39"/>
        <display value="Acromelanosis"/>
      </concept>
      <concept>
        <code value="390"/>
        <display value="Histoplasmosis"/>
      </concept>
      <concept>
        <code value="39041"/>
        <display value="Omenn syndrome"/>
      </concept>
      <concept>
        <code value="39044"/>
        <display value="Uveal melanoma"/>
      </concept>
      <concept>
        <code value="391"/>
        <display value="Classic Hodgkin lymphoma"/>
      </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="Intellectual disability-severe speech delay-mild dysmorphism 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="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="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="Classic homocystinuria"/>
      </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="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="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="39812"/>
        <display value="Graft versus host disease"/>
      </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="399"/>
        <display value="Huntington disease"/>
      </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="40"/>
        <display value="Acromesomelic dysplasia, Maroteaux type"/>
      </concept>
      <concept>
        <code value="400"/>
        <display value="Cystic echinococcosis"/>
      </concept>
      <concept>
        <code value="401"/>
        <display value="Hymenolepiasis"/>
      </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="403"/>
        <display value="Familial hyperaldosteronism type I"/>
      </concept>
      <concept>
        <code value="40366"/>
        <display value="Acitretin/etretinate embryopathy"/>
      </concept>
      <concept>
        <code value="404"/>
        <display value="Familial hyperaldosteronism type II"/>
      </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="Vasculitis due to ADA2 deficiency"/>
      </concept>
      <concept>
        <code value="404560"/>
        <display value="Familial atypical multiple mole melanoma syndrome"/>
      </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="40923"/>
        <display value="Eales disease"/>
      </concept>
      <concept>
        <code value="41"/>
        <display value="Dyschromatosis symmetrica hereditaria"/>
      </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="412"/>
        <display value="Dysbetalipoproteinemia"/>
      </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="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="41751"/>
        <display value="Bietti crystalline dystrophy"/>
      </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="419"/>
        <display value="Hyperprolinemia type 1"/>
      </concept>
      <concept>
        <code value="42"/>
        <display value="Medium chain acyl-CoA dehydrogenase deficiency"/>
      </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="42062"/>
        <display value="Iminoglycinuria"/>
      </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="422"/>
        <display
                 value="Idiopathic/heritable pulmonary arterial hypertension"/>
      </concept>
      <concept>
        <code value="422526"/>
        <display value="Hereditary clear cell renal cell carcinoma"/>
      </concept>
      <concept>
        <code value="423"/>
        <display value="Malignant hyperthermia of anesthesia"/>
      </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="Autosomal recessive 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-diabetes insipidus syndrome"/>
      </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="424"/>
        <display
                 value="Familial hyperthyroidism due to mutations in TSH receptor"/>
      </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="425"/>
        <display value="Apolipoprotein A-I deficiency"/>
      </concept>
      <concept>
        <code value="425120"/>
        <display value="STING-associated vasculopathy with onset in infancy"/>
      </concept>
      <concept>
        <code value="42642"/>
        <display value="PFAPA syndrome"/>
      </concept>
      <concept>
        <code value="42665"/>
        <display value="Tietz syndrome"/>
      </concept>
      <concept>
        <code value="427"/>
        <display value="Familial hypoaldosteronism"/>
      </concept>
      <concept>
        <code value="42775"/>
        <display value="PHACE syndrome"/>
      </concept>
      <concept>
        <code value="428"/>
        <display value="Autosomal dominant hypocalcemia"/>
      </concept>
      <concept>
        <code value="429"/>
        <display value="Hypochondroplasia"/>
      </concept>
      <concept>
        <code value="43"/>
        <display value="X-linked adrenoleukodystrophy"/>
      </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="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="431166"/>
        <display
                 value="Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection"/>
      </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="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="432"/>
        <display value="Normosmic congenital hypogonadotropic hypogonadism"/>
      </concept>
      <concept>
        <code value="43393"/>
        <display value="Lambert-Eaton myasthenic syndrome"/>
      </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="436"/>
        <display value="Hypophosphatasia"/>
      </concept>
      <concept>
        <code value="436003"/>
        <display
                 value="Contractures-developmental delay-Pierre Robin syndrome"/>
      </concept>
      <concept>
        <code value="436141"/>
        <display
                 value="Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus 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="439"/>
        <display value="Isolated right ventricular hypoplasia"/>
      </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="44"/>
        <display value="Neonatal adrenoleukodystrophy"/>
      </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="441"/>
        <display value="Pure autonomic failure"/>
      </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="444"/>
        <display value="Marie Unna hereditary hypotrichosis"/>
      </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"/>
      </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 type 7"/>
      </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="446"/>
        <display value="Neonatal hemochromatosis"/>
      </concept>
      <concept>
        <code value="447"/>
        <display value="Paroxysmal nocturnal hemoglobinuria"/>
      </concept>
      <concept>
        <code value="447731"/>
        <display value="NIK deficiency"/>
      </concept>
      <concept>
        <code value="447737"/>
        <display value="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="44890"/>
        <display value="Gastrointestinal stromal tumor"/>
      </concept>
      <concept>
        <code value="449"/>
        <display value="Hepatoblastoma"/>
      </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="45"/>
        <display value="Adenosine monophosphate deaminase deficiency"/>
      </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="452"/>
        <display value="X-linked lissencephaly with abnormal genitalia"/>
      </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="45358"/>
        <display value="Congenital fibrosis of extraocular muscles"/>
      </concept>
      <concept>
        <code value="454"/>
        <display value="Acquired ichthyosis"/>
      </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="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="455"/>
        <display value="Superficial epidermolytic ichthyosis"/>
      </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="457"/>
        <display value="Harlequin ichthyosis"/>
      </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="Primary 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="46"/>
        <display value="Adenylosuccinate lyase deficiency"/>
      </concept>
      <concept>
        <code value="46059"/>
        <display value="Lathosterolosis"/>
      </concept>
      <concept>
        <code value="461"/>
        <display value="Recessive X-linked ichthyosis"/>
      </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="464"/>
        <display value="Incontinentia pigmenti"/>
      </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="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="465"/>
        <display
                 value="Congenital plasminogen activator inhibitor type 1 deficiency"/>
      </concept>
      <concept>
        <code value="46532"/>
        <display
                 value="Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"/>
      </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="466"/>
        <display value="Fatal familial insomnia"/>
      </concept>
      <concept>
        <code value="466026"/>
        <display
                 value="Class I glucose-6-phosphate dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="46627"/>
        <display value="Char syndrome"/>
      </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="46724"/>
        <display value="Cerebral arteriovenous malformation"/>
      </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="469"/>
        <display value="Hereditary fructose intolerance"/>
      </concept>
      <concept>
        <code value="47"/>
        <display value="X-linked agammaglobulinemia"/>
      </concept>
      <concept>
        <code value="470"/>
        <display value="Lysinuric protein intolerance"/>
      </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="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="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="476102"/>
        <display value="Hereditary pediatric Behçet-like disease"/>
      </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="47612"/>
        <display value="Felty 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="477"/>
        <display value="KID 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="478"/>
        <display value="Kallmann 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="48"/>
        <display value="Congenital bilateral absence of vas deferens"/>
      </concept>
      <concept>
        <code value="480"/>
        <display value="Kearns-Sayre syndrome"/>
      </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="481"/>
        <display value="Kennedy disease"/>
      </concept>
      <concept>
        <code value="48104"/>
        <display value="Pyoderma gangrenosum"/>
      </concept>
      <concept>
        <code value="481152"/>
        <display
                 value="PYCR2-related microcephaly-progressive leukoencephalopathy"/>
      </concept>
      <concept>
        <code value="48162"/>
        <display value="Lewis-Sumner syndrome"/>
      </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="482"/>
        <display value="Kimura disease"/>
      </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="483"/>
        <display
                 value="Congenital high-molecular-weight kininogen deficiency"/>
      </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="485"/>
        <display value="Kniest dysplasia"/>
      </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="486"/>
        <display value="Autosomal dominant severe congenital neutropenia"/>
      </concept>
      <concept>
        <code value="48652"/>
        <display value="Monosomy 22q13.3"/>
      </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="48686"/>
        <display value="Primary effusion lymphoma"/>
      </concept>
      <concept>
        <code value="487"/>
        <display value="Krabbe disease"/>
      </concept>
      <concept>
        <code value="48736"/>
        <display value="Embryonal carcinoma of the central nervous system"/>
      </concept>
      <concept>
        <code value="487796"/>
        <display
                 value="Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly 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="488"/>
        <display value="Urachal cyst"/>
      </concept>
      <concept>
        <code value="488168"/>
        <display
                 value="Microcephaly-congenital cataract-psoriasiform dermatitis syndrome"/>
      </concept>
      <concept>
        <code value="48818"/>
        <display value="Aceruloplasminemia"/>
      </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="48918"/>
        <display value="Focal myositis"/>
      </concept>
      <concept>
        <code value="49"/>
        <display value="Penile agenesis"/>
      </concept>
      <concept>
        <code value="490"/>
        <display value="Omphalomesenteric cyst"/>
      </concept>
      <concept>
        <code value="49041"/>
        <display value="IgG4-related retroperitoneal fibrosis"/>
      </concept>
      <concept>
        <code value="49042"/>
        <display value="Dentinogenesis imperfecta"/>
      </concept>
      <concept>
        <code value="492"/>
        <display value="Proliferating trichilemmal cyst"/>
      </concept>
      <concept>
        <code value="493"/>
        <display value="Familial keratoacanthoma"/>
      </concept>
      <concept>
        <code value="493342"/>
        <display value="Vibratory urticaria"/>
      </concept>
      <concept>
        <code value="49382"/>
        <display value="Achromatopsia"/>
      </concept>
      <concept>
        <code value="494"/>
        <display value="Keratoderma hereditarium mutilans"/>
      </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="495"/>
        <display
                 value="Transgrediens et progrediens palmoplantar keratoderma"/>
      </concept>
      <concept>
        <code value="495274"/>
        <display value="Charcot-Marie-Tooth disease type 2T"/>
      </concept>
      <concept>
        <code value="49566"/>
        <display value="Acquired purpura fulminans"/>
      </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="49804"/>
        <display value="Lichen amyloidosis"/>
      </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="49827"/>
        <display value="Thiamine-responsive megaloblastic anemia syndrome"/>
      </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="499"/>
        <display value="Kerion celsi"/>
      </concept>
      <concept>
        <code value="499009"/>
        <display value="Congenital syphilis"/>
      </concept>
      <concept>
        <code value="499085"/>
        <display value="Chronic relapsing inflammatory optic neuropathy"/>
      </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="5"/>
        <display
                 value="Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"/>
      </concept>
      <concept>
        <code value="50"/>
        <display value="Aicardi syndrome"/>
      </concept>
      <concept>
        <code value="500"/>
        <display value="Noonan syndrome with multiple lentigines"/>
      </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="SIN3A-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="501"/>
        <display value="Lafora disease"/>
      </concept>
      <concept>
        <code value="502"/>
        <display value="Trichorhinophalangeal syndrome type 2"/>
      </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="Metopic ridging-ptosis-facial dysmorphism 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="50251"/>
        <display value="Pleural mesothelioma"/>
      </concept>
      <concept>
        <code value="503"/>
        <display value="Larsen syndrome"/>
      </concept>
      <concept>
        <code value="504"/>
        <display value="Creeping myiasis"/>
      </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="505"/>
        <display value="Graham Little-Piccardi-Lassueur syndrome"/>
      </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="506"/>
        <display value="Leigh syndrome"/>
      </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="507"/>
        <display value="Leishmaniasis"/>
      </concept>
      <concept>
        <code value="508"/>
        <display value="Leprechaunism"/>
      </concept>
      <concept>
        <code value="50809"/>
        <display value="Talo-patello-scaphoid osteolysis"/>
      </concept>
      <concept>
        <code value="508093"/>
        <display value="MEPAN syndrome"/>
      </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="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="509"/>
        <display value="Leptospirosis"/>
      </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="51"/>
        <display value="Aicardi-Goutières syndrome"/>
      </concept>
      <concept>
        <code value="510"/>
        <display value="Lesch-Nyhan syndrome"/>
      </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="511"/>
        <display value="Maple syrup urine disease"/>
      </concept>
      <concept>
        <code value="51188"/>
        <display value="Ethylmalonic encephalopathy"/>
      </concept>
      <concept>
        <code value="512"/>
        <display value="Metachromatic leukodystrophy"/>
      </concept>
      <concept>
        <code value="512017"/>
        <display
                 value="Chronic lymphoproliferative disorder of natural killer cells"/>
      </concept>
      <concept>
        <code value="51208"/>
        <display value="Formiminoglutamic aciduria"/>
      </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="514"/>
        <display value="Acute monoblastic/monocytic leukemia"/>
      </concept>
      <concept>
        <code value="514352"/>
        <display
                 value="Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome"/>
      </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="517"/>
        <display value="Acute myelomonocytic leukemia"/>
      </concept>
      <concept>
        <code value="518"/>
        <display value="Acute megakaryoblastic leukemia"/>
      </concept>
      <concept>
        <code value="51890"/>
        <display value="Anterior cutaneous nerve entrapment 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="52"/>
        <display value="Alagille syndrome"/>
      </concept>
      <concept>
        <code value="520"/>
        <display value="Acute promyelocytic leukemia"/>
      </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="521"/>
        <display value="Chronic myeloid leukemia"/>
      </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="523"/>
        <display value="Hereditary leiomyomatosis and renal cell cancer"/>
      </concept>
      <concept>
        <code value="52368"/>
        <display value="Mohr-Tranebjaerg syndrome"/>
      </concept>
      <concept>
        <code value="524"/>
        <display value="Li-Fraumeni 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="525"/>
        <display value="Lichen planopilaris"/>
      </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="525731"/>
        <display value="Pediatric-onset Graves disease"/>
      </concept>
      <concept>
        <code value="525738"/>
        <display value="Prepubertal anorexia nervosa"/>
      </concept>
      <concept>
        <code value="526"/>
        <display value="Liddle syndrome"/>
      </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="528"/>
        <display value="Congenital generalized lipodystrophy"/>
      </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="529"/>
        <display value="Roch-Leri mesosomatous lipomatosis"/>
      </concept>
      <concept>
        <code value="52901"/>
        <display value="Isolated follicle stimulating hormone 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="52994"/>
        <display value="Orbital leiomyoma"/>
      </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="53"/>
        <display value="Albers-Schönberg osteopetrosis"/>
      </concept>
      <concept>
        <code value="530"/>
        <display value="Lipoid proteinosis"/>
      </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="53035"/>
        <display value="Caroli disease"/>
      </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="531"/>
        <display value="Miller-Dieker syndrome"/>
      </concept>
      <concept>
        <code value="531151"/>
        <display value="9q21.13 microdeletion syndrome"/>
      </concept>
      <concept>
        <code value="53271"/>
        <display value="Muenke syndrome"/>
      </concept>
      <concept>
        <code value="53296"/>
        <display value="Familial cutaneous collagenoma"/>
      </concept>
      <concept>
        <code value="533"/>
        <display value="Listeriosis"/>
      </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="534"/>
        <display value="Oculocerebrorenal syndrome of Lowe"/>
      </concept>
      <concept>
        <code value="53540"/>
        <display value="Goldmann-Favre 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="53583"/>
        <display
                 value="Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity"/>
      </concept>
      <concept>
        <code value="536"/>
        <display value="Systemic lupus erythematosus"/>
      </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="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="537"/>
        <display value="Toxic epidermal necrolysis"/>
      </concept>
      <concept>
        <code value="537072"/>
        <display value="PLG-related hereditary angioedema with normal C1Inh"/>
      </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="538"/>
        <display value="Lymphangioleiomyomatosis"/>
      </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 SH2D1A 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="54"/>
        <display value="X-linked recessive ocular albinism"/>
      </concept>
      <concept>
        <code value="540"/>
        <display value="Familial hemophagocytic lymphohistiocytosis"/>
      </concept>
      <concept>
        <code value="54028"/>
        <display value="Plummer-Vinson syndrome"/>
      </concept>
      <concept>
        <code value="54057"/>
        <display value="Thrombotic thrombocytopenic purpura"/>
      </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="54247"/>
        <display value="Posterior cortical atrophy"/>
      </concept>
      <concept>
        <code value="54251"/>
        <display value="Corticosteroid-sensitive aseptic abscess 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="54260"/>
        <display value="Left ventricular noncompaction"/>
      </concept>
      <concept>
        <code value="542643"/>
        <display value="Livedoid vasculopathy"/>
      </concept>
      <concept>
        <code value="542657"/>
        <display value="Isolated hyperchlorhidrosis"/>
      </concept>
      <concept>
        <code value="54272"/>
        <display value="Hepatocellular adenoma"/>
      </concept>
      <concept>
        <code value="543"/>
        <display value="Burkitt lymphoma"/>
      </concept>
      <concept>
        <code value="543470"/>
        <display
                 value="Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"/>
      </concept>
      <concept>
        <code value="54368"/>
        <display value="Sarcocystosis"/>
      </concept>
      <concept>
        <code value="54370"/>
        <display value="Primary membranoproliferative glomerulonephritis"/>
      </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="545"/>
        <display value="Follicular lymphoma"/>
      </concept>
      <concept>
        <code value="54595"/>
        <display value="Craniopharyngioma"/>
      </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="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="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="556"/>
        <display value="Malakoplakia"/>
      </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="55654"/>
        <display value="Hypotrichosis simplex"/>
      </concept>
      <concept>
        <code value="55655"/>
        <display value="Pneumococcal meningitis"/>
      </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="558"/>
        <display value="Marfan syndrome"/>
      </concept>
      <concept>
        <code value="558411"/>
        <display value="Idiopathic gastroparesis"/>
      </concept>
      <concept>
        <code value="55880"/>
        <display value="Chondrosarcoma"/>
      </concept>
      <concept>
        <code value="55881"/>
        <display value="Adamantinoma"/>
      </concept>
      <concept>
        <code value="559"/>
        <display value="Marinesco-Sjögren syndrome"/>
      </concept>
      <concept>
        <code value="56"/>
        <display value="Alkaptonuria"/>
      </concept>
      <concept>
        <code value="560"/>
        <display value="Marshall syndrome"/>
      </concept>
      <concept>
        <code value="561"/>
        <display value="Marshall-Smith syndrome"/>
      </concept>
      <concept>
        <code value="561854"/>
        <display value="FOXG1 syndrome"/>
      </concept>
      <concept>
        <code value="562"/>
        <display value="McCune-Albright 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="563"/>
        <display value="Peripartum cardiomyopathy"/>
      </concept>
      <concept>
        <code value="56304"/>
        <display value="Atelosteogenesis type II"/>
      </concept>
      <concept>
        <code value="56305"/>
        <display value="Atelosteogenesis type III"/>
      </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="564"/>
        <display value="Meckel syndrome"/>
      </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="56425"/>
        <display value="Cold agglutinin disease"/>
      </concept>
      <concept>
        <code value="565"/>
        <display value="Menkes disease"/>
      </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="566"/>
        <display value="Congenital microcoria"/>
      </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="567"/>
        <display value="22q11.2 deletion 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="568"/>
        <display value="Microphthalmia, Lenz type"/>
      </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="569"/>
        <display value="Familial or sporadic hemiplegic migraine"/>
      </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="57"/>
        <display
                 value="Glycogen storage disease due to aldolase A deficiency"/>
      </concept>
      <concept>
        <code value="570"/>
        <display value="Moebius syndrome"/>
      </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="57145"/>
        <display value="SUNCT syndrome"/>
      </concept>
      <concept>
        <code value="57196"/>
        <display value="Medial condensing osteitis of the clavicle"/>
      </concept>
      <concept>
        <code value="572"/>
        <display
                 value="Immunodeficiency by defective expression of MHC class II"/>
      </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="573"/>
        <display value="Monilethrix"/>
      </concept>
      <concept>
        <code value="573253"/>
        <display value="Split cord malformation type II"/>
      </concept>
      <concept>
        <code value="574"/>
        <display value="21q deletion syndrome"/>
      </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="575"/>
        <display value="Muckle-Wells syndrome"/>
      </concept>
      <concept>
        <code value="575553"/>
        <display
                 value="Cathepsin A-related arteriopathy-strokes-leukoencephalopathy"/>
      </concept>
      <concept>
        <code value="576"/>
        <display value="Mucolipidosis type II"/>
      </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="577"/>
        <display value="Mucolipidosis type III"/>
      </concept>
      <concept>
        <code value="57777"/>
        <display value="Cirrhotic cardiomyopathy"/>
      </concept>
      <concept>
        <code value="57782"/>
        <display value="Mazabraud syndrome"/>
      </concept>
      <concept>
        <code value="578"/>
        <display value="Mucolipidosis type IV"/>
      </concept>
      <concept>
        <code value="579"/>
        <display value="Mucopolysaccharidosis type 1"/>
      </concept>
      <concept>
        <code value="58"/>
        <display value="Alexander disease"/>
      </concept>
      <concept>
        <code value="580"/>
        <display value="Mucopolysaccharidosis type 2"/>
      </concept>
      <concept>
        <code value="58017"/>
        <display value="Classic hairy cell leukemia"/>
      </concept>
      <concept>
        <code value="58040"/>
        <display value="Osteoblastoma"/>
      </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="581"/>
        <display value="Mucopolysaccharidosis type 3"/>
      </concept>
      <concept>
        <code value="581271"/>
        <display value="Cramp-fasciculation syndrome"/>
      </concept>
      <concept>
        <code value="582"/>
        <display value="Mucopolysaccharidosis type 4"/>
      </concept>
      <concept>
        <code value="583"/>
        <display value="Mucopolysaccharidosis type 6"/>
      </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="584"/>
        <display value="Mucopolysaccharidosis type 7"/>
      </concept>
      <concept>
        <code value="585"/>
        <display value="Multiple sulfatase deficiency"/>
      </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="586"/>
        <display value="Cystic fibrosis"/>
      </concept>
      <concept>
        <code value="586130"/>
        <display value="Sporadic fatal insomnia"/>
      </concept>
      <concept>
        <code value="587"/>
        <display value="Muir-Torre syndrome"/>
      </concept>
      <concept>
        <code value="588"/>
        <display value="Muscle-eye-brain disease"/>
      </concept>
      <concept>
        <code value="589"/>
        <display value="Myasthenia gravis"/>
      </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="59"/>
        <display value="Allan-Herndon-Dudley syndrome"/>
      </concept>
      <concept>
        <code value="590"/>
        <display value="Congenital myasthenic syndrome"/>
      </concept>
      <concept>
        <code value="590539"/>
        <display value="Isolated melanotic schwannoma"/>
      </concept>
      <concept>
        <code value="591"/>
        <display value="Furuncular myiasis"/>
      </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="592"/>
        <display value="Macrophagic myofasciitis"/>
      </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="592885"/>
        <display value="Isolated optic neuritis without anti-MOG antibodies"/>
      </concept>
      <concept>
        <code value="592888"/>
        <display value="Isolated optic neuritis 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="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="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="596"/>
        <display value="X-linked centronuclear myopathy"/>
      </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="597"/>
        <display value="Central core disease"/>
      </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="598"/>
        <display value="Multiminicore myopathy"/>
      </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="6"/>
        <display value="3-methylcrotonyl-CoA carboxylase deficiency"/>
      </concept>
      <concept>
        <code value="60"/>
        <display value="Alpha-1-antitrypsin deficiency"/>
      </concept>
      <concept>
        <code value="600"/>
        <display value="Vocal cord and pharyngeal distal myopathy"/>
      </concept>
      <concept>
        <code value="60014"/>
        <display value="Argyria"/>
      </concept>
      <concept>
        <code value="60015"/>
        <display value="Enlarged parietal foramina"/>
      </concept>
      <concept>
        <code value="600194"/>
        <display value="Factor V Atlanta bleeding disorder"/>
      </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 neuralgia"/>
      </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="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="602"/>
        <display value="GNE myopathy"/>
      </concept>
      <concept>
        <code value="603"/>
        <display value="Distal myopathy, Welander type"/>
      </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="606"/>
        <display value="Proximal myotonic myopathy"/>
      </concept>
      <concept>
        <code value="609"/>
        <display value="Tibial muscular dystrophy"/>
      </concept>
      <concept>
        <code value="61"/>
        <display value="Alpha-mannosidosis"/>
      </concept>
      <concept>
        <code value="610"/>
        <display value="Bethlem myopathy"/>
      </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="611"/>
        <display value="Inclusion body myositis"/>
      </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="614"/>
        <display value="Thomsen and Becker disease"/>
      </concept>
      <concept>
        <code value="615"/>
        <display value="Familial atrial myxoma"/>
      </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="616"/>
        <display value="Medulloblastoma"/>
      </concept>
      <concept>
        <code value="616874"/>
        <display
                 value="Rare disorder without a determined diagnosis after full investigation"/>
      </concept>
      <concept>
        <code value="617"/>
        <display value="Congenital primary megaureter"/>
      </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="618"/>
        <display value="Familial melanoma"/>
      </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="Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18"/>
      </concept>
      <concept>
        <code value="619367"/>
        <display value="SAMD9L-associated autoinflammatory syndrome"/>
      </concept>
      <concept>
        <code value="619941"/>
        <display
                 value="Immune deficiency due to impaired neutrophil phagocytosis and migration"/>
      </concept>
      <concept>
        <code value="619948"/>
        <display
                 value="Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome"/>
      </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="62"/>
        <display
                 value="Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3"/>
      </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="621"/>
        <display value="Hereditary methemoglobinemia"/>
      </concept>
      <concept>
        <code value="621758"/>
        <display
                 value="Fibrosis-neurodegeneration-cerebral angiomatosis syndrome"/>
      </concept>
      <concept>
        <code value="622"/>
        <display value="Homocystinuria without methylmalonic aciduria"/>
      </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="624"/>
        <display value="Familial multiple nevi flammei"/>
      </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="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="63"/>
        <display value="Alport syndrome"/>
      </concept>
      <concept>
        <code value="631"/>
        <display value="Non-acquired isolated growth hormone deficiency"/>
      </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="632"/>
        <display
                 value="Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia"/>
      </concept>
      <concept>
        <code value="63259"/>
        <display value="Iniencephaly"/>
      </concept>
      <concept>
        <code value="63260"/>
        <display value="Craniorachischisis"/>
      </concept>
      <concept>
        <code value="632603"/>
        <display
                 value="Mesomelic dysplasia-digital anomalies-intellectual disability syndrome"/>
      </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="633"/>
        <display value="Laron 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="Proximal femoral focal deficiency"/>
      </concept>
      <concept>
        <code value="634"/>
        <display value="Netherton syndrome"/>
      </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="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="63455"/>
        <display value="Paraneoplastic pemphigus"/>
      </concept>
      <concept>
        <code value="635"/>
        <display value="Neuroblastoma"/>
      </concept>
      <concept>
        <code value="636"/>
        <display value="Neurofibromatosis type 1"/>
      </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="637"/>
        <display value="Full NF2-related schwannomatosis"/>
      </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="638"/>
        <display value="Neurofibromatosis-Noonan syndrome"/>
      </concept>
      <concept>
        <code value="63862"/>
        <display value="Schisis association"/>
      </concept>
      <concept>
        <code value="639"/>
        <display
                 value="Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG"/>
      </concept>
      <concept>
        <code value="63999"/>
        <display value="IgG4-related mediastinitis"/>
      </concept>
      <concept>
        <code value="64"/>
        <display value="Alström syndrome"/>
      </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="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"/>
      </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="642"/>
        <display value="Hereditary sensory and autonomic neuropathy type 4"/>
      </concept>
      <concept>
        <code value="642071"/>
        <display value="Primary pulmonary vein stenosis"/>
      </concept>
      <concept>
        <code value="642085"/>
        <display
                 value="Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type"/>
      </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="64280"/>
        <display value="Childhood absence epilepsy"/>
      </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="643"/>
        <display value="Giant axonal neuropathy"/>
      </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="644"/>
        <display value="NARP 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="64542"/>
        <display value="Acrofacial dysostosis, Kennedy-Teebi type"/>
      </concept>
      <concept>
        <code value="64545"/>
        <display value="Benign idiopathic neonatal seizures"/>
      </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="646"/>
        <display value="Niemann-Pick disease type C"/>
      </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 congenital heart defects-intellectual disability-facial dysmorphism syndrome"/>
      </concept>
      <concept>
        <code value="64686"/>
        <display value="Tolosa-Hunt syndrome"/>
      </concept>
      <concept>
        <code value="64692"/>
        <display value="Oroya fever"/>
      </concept>
      <concept>
        <code value="64694"/>
        <display value="Trench fever"/>
      </concept>
      <concept>
        <code value="647"/>
        <display value="Nijmegen breakage syndrome"/>
      </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="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="Keratoendotheliitis 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="648"/>
        <display value="Noonan syndrome"/>
      </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="649"/>
        <display value="Norrie disease"/>
      </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="65"/>
        <display value="Leber congenital amaurosis"/>
      </concept>
      <concept>
        <code value="650"/>
        <display value="LCAT deficiency"/>
      </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="652"/>
        <display value="Multiple endocrine neoplasia type 1"/>
      </concept>
      <concept>
        <code value="65250"/>
        <display value="Perineural cyst"/>
      </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="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="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="65798"/>
        <display value="Goodman 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="66518"/>
        <display value="Short fifth metacarpals-insulin resistance syndrome"/>
      </concept>
      <concept>
        <code value="66529"/>
        <display value="Tako-Tsubo cardiomyopathy"/>
      </concept>
      <concept>
        <code value="666"/>
        <display value="Osteogenesis imperfecta"/>
      </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="667"/>
        <display value="Autosomal recessive malignant osteopetrosis"/>
      </concept>
      <concept>
        <code value="668"/>
        <display value="Osteosarcoma"/>
      </concept>
      <concept>
        <code value="67"/>
        <display value="Amoebiasis due to Entamoeba histolytica"/>
      </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="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="68"/>
        <display value="Amoebiasis due to free-living amoebae"/>
      </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="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="699"/>
        <display value="Pearson syndrome"/>
      </concept>
      <concept>
        <code value="7"/>
        <display value="3C syndrome"/>
      </concept>
      <concept>
        <code value="70"/>
        <display value="Proximal spinal muscular atrophy"/>
      </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="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="705"/>
        <display value="Pendred syndrome"/>
      </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="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="71"/>
        <display value="Chylomicron retention disease"/>
      </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="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="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="71493"/>
        <display value="Familial thrombocytosis"/>
      </concept>
      <concept>
        <code value="715"/>
        <display
                 value="Glycogen storage disease due to muscle phosphorylase kinase deficiency"/>
      </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="716"/>
        <display value="Phenylketonuria"/>
      </concept>
      <concept>
        <code value="718"/>
        <display value="Isolated Pierre Robin syndrome"/>
      </concept>
      <concept>
        <code value="72"/>
        <display value="Angelman 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="73"/>
        <display value="Gorham-Stout disease"/>
      </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="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="733"/>
        <display value="Familial adenomatous polyposis"/>
      </concept>
      <concept>
        <code value="734"/>
        <display value="Alpha delta granule deficiency"/>
      </concept>
      <concept>
        <code value="73423"/>
        <display value="Acute ackee fruit intoxication"/>
      </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="74"/>
        <display value="Angiostrongyliasis"/>
      </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="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="753"/>
        <display
                 value="46,XY difference of sex development due to 5-alpha-reductase 2 deficiency"/>
      </concept>
      <concept>
        <code value="75325"/>
        <display
                 value="Osteosclerosis-ichthyosis-premature ovarian failure syndrome"/>
      </concept>
      <concept>
        <code value="75326"/>
        <display value="Retinal arterial 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="755"/>
        <display value="Leydig cell hypoplasia"/>
      </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="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="75840"/>
        <display value="Congenital muscular dystrophy, Ullrich type"/>
      </concept>
      <concept>
        <code value="75857"/>
        <display value="6q terminal deletion syndrome"/>
      </concept>
      <concept>
        <code value="75858"/>
        <display value="MORM syndrome"/>
      </concept>
      <concept>
        <code value="76"/>
        <display value="Strongyloidiasis"/>
      </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="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="773"/>
        <display value="Refsum disease"/>
      </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="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="78"/>
        <display value="Ankylostomiasis"/>
      </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="79"/>
        <display value="Congenital alpha2-antiplasmin deficiency"/>
      </concept>
      <concept>
        <code value="790"/>
        <display value="Retinoblastoma"/>
      </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="791"/>
        <display value="Retinitis pigmentosa"/>
      </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="792"/>
        <display value="X-linked retinoschisis"/>
      </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="79262"/>
        <display value="Adult neuronal ceroid lipofuscinosis"/>
      </concept>
      <concept>
        <code value="79263"/>
        <display value="Infantile neuronal ceroid lipofuscinosis"/>
      </concept>
      <concept>
        <code value="79264"/>
        <display value="Juvenile neuronal ceroid lipofuscinosis"/>
      </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="793"/>
        <display value="SAPHO syndrome"/>
      </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="794"/>
        <display value="Saethre-Chotzen syndrome"/>
      </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="Porphyria variegata"/>
      </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="796"/>
        <display value="Sandhoff disease"/>
      </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="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="8"/>
        <display value="47,XYY syndrome"/>
      </concept>
      <concept>
        <code value="80"/>
        <display value="Antiphospholipid syndrome"/>
      </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="81"/>
        <display value="Antisynthetase syndrome"/>
      </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="82"/>
        <display
                 value="Hereditary thrombophilia due to congenital antithrombin deficiency"/>
      </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="83"/>
        <display value="Antley-Bixler syndrome"/>
      </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="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="834"/>
        <display value="Free sialic acid storage disease"/>
      </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="838"/>
        <display value="Susac syndrome"/>
      </concept>
      <concept>
        <code value="839"/>
        <display value="Congenital nephrotic syndrome, Finnish type"/>
      </concept>
      <concept>
        <code value="84"/>
        <display value="Fanconi anemia"/>
      </concept>
      <concept>
        <code value="840"/>
        <display value="Syringocystadenoma papilliferum"/>
      </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="841"/>
        <display value="Sebocystomatosis"/>
      </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="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="Alpha-thalassemia-X-linked 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="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="852"/>
        <display value="X-linked thrombocytopenia with normal platelets"/>
      </concept>
      <concept>
        <code value="85200"/>
        <display value="Ischiovertebral 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="853"/>
        <display value="Fetal and neonatal alloimmune thrombocytopenia"/>
      </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="854"/>
        <display value="Primitive portal vein thrombosis"/>
      </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="Hereditary cerebral hemorrhage with amyloidosis"/>
      </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="86"/>
        <display value="Familial abdominal aortic aneurysm"/>
      </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="86309"/>
        <display value="DPAGT1-CDG"/>
      </concept>
      <concept>
        <code value="864"/>
        <display value="Trichofolliculoma"/>
      </concept>
      <concept>
        <code value="867"/>
        <display value="Familial multiple trichoepithelioma"/>
      </concept>
      <concept>
        <code value="86788"/>
        <display value="X-linked severe congenital neutropenia"/>
      </concept>
      <concept>
        <code value="86789"/>
        <display value="Patella aplasia/hypoplasia"/>
      </concept>
      <concept>
        <code value="86797"/>
        <display value="Atypical lichen myxedematosus"/>
      </concept>
      <concept>
        <code value="868"/>
        <display value="Triose phosphate-isomerase deficiency"/>
      </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="Refractory anemia with excess 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="869"/>
        <display value="Triple A syndrome"/>
      </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="87"/>
        <display value="Apert 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="87503"/>
        <display value="Mal de Meleda"/>
      </concept>
      <concept>
        <code value="876"/>
        <display value="Yolk sac tumor"/>
      </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="879"/>
        <display value="Tungiasis"/>
      </concept>
      <concept>
        <code value="88"/>
        <display value="Idiopathic aplastic anemia"/>
      </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="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="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="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="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="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="899"/>
        <display value="Walker-Warburg syndrome"/>
      </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="9"/>
        <display value="Tetrasomy X"/>
      </concept>
      <concept>
        <code value="90"/>
        <display value="Argininemia"/>
      </concept>
      <concept>
        <code value="900"/>
        <display value="Granulomatosis with polyangiitis"/>
      </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 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="901"/>
        <display value="Wells 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="902"/>
        <display value="Werner syndrome"/>
      </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="903"/>
        <display value="Von Willebrand disease"/>
      </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="904"/>
        <display value="Williams syndrome"/>
      </concept>
      <concept>
        <code value="90400"/>
        <display value="Scleromyxedema without monoclonal gammopathy"/>
      </concept>
      <concept>
        <code value="905"/>
        <display value="Wilson disease"/>
      </concept>
      <concept>
        <code value="906"/>
        <display value="Wiskott-Aldrich syndrome"/>
      </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="908"/>
        <display value="Fragile X syndrome"/>
      </concept>
      <concept>
        <code value="909"/>
        <display value="Cerebrotendinous xanthomatosis"/>
      </concept>
      <concept>
        <code value="91"/>
        <display value="Aromatase deficiency"/>
      </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="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="912"/>
        <display value="Zellweger syndrome"/>
      </concept>
      <concept>
        <code value="913"/>
        <display value="Zollinger-Ellison syndrome"/>
      </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="915"/>
        <display value="Aarskog-Scott syndrome"/>
      </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="916"/>
        <display value="Aase-Smith syndrome"/>
      </concept>
      <concept>
        <code value="920"/>
        <display value="Ablepharon macrostomia syndrome"/>
      </concept>
      <concept>
        <code value="92050"/>
        <display value="Congenital tufting enteropathy"/>
      </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="93"/>
        <display value="Aspartylglucosaminuria"/>
      </concept>
      <concept>
        <code value="930"/>
        <display value="Idiopathic achalasia"/>
      </concept>
      <concept>
        <code value="931"/>
        <display value="Acheiropodia"/>
      </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="932"/>
        <display value="Achondrogenesis"/>
      </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="Ulnar hemimelia"/>
      </concept>
      <concept>
        <code value="93321"/>
        <display value="Radial hemimelia"/>
      </concept>
      <concept>
        <code value="93322"/>
        <display value="Tibial hemimelia"/>
      </concept>
      <concept>
        <code value="93323"/>
        <display value="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="935"/>
        <display
                 value="Short-limb skeletal dysplasia with severe combined immunodeficiency"/>
      </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="93569"/>
        <display value="Polymyalgia rheumatica"/>
      </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="939"/>
        <display value="3-hydroxyisobutyric aciduria"/>
      </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="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="941"/>
        <display value="D-glyceric aciduria"/>
      </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="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="95"/>
        <display value="Friedreich ataxia"/>
      </concept>
      <concept>
        <code value="950"/>
        <display value="Acrodysostosis"/>
      </concept>
      <concept>
        <code value="95159"/>
        <display value="Hepatoerythropoietic porphyria"/>
      </concept>
      <concept>
        <code value="952"/>
        <display value="Acrofacial dysostosis, Weyers type"/>
      </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="955"/>
        <display value="Hajdu-Cheney 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 central diabetes insipidus"/>
      </concept>
      <concept>
        <code value="95699"/>
        <display
                 value="Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"/>
      </concept>
      <concept>
        <code value="957"/>
        <display value="Acropectorovertebral dysplasia"/>
      </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="958"/>
        <display value="Acro-renal-mandibular syndrome"/>
      </concept>
      <concept>
        <code value="95854"/>
        <display value="Levocardia"/>
      </concept>
      <concept>
        <code value="959"/>
        <display value="Acro-renal-ocular syndrome"/>
      </concept>
      <concept>
        <code value="96"/>
        <display value="Ataxia with vitamin E deficiency"/>
      </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="963"/>
        <display value="Acromegaly"/>
      </concept>
      <concept>
        <code value="96334"/>
        <display
                 value="Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14"/>
      </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="97"/>
        <display value="Familial paroxysmal ataxia"/>
      </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="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="973"/>
        <display
                 value="Congenital absence/hypoplasia of fingers excluding thumb, unilateral"/>
      </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="974"/>
        <display value="Adams-Oliver syndrome"/>
      </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="976"/>
        <display value="Adenine phosphoribosyltransferase deficiency"/>
      </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="977"/>
        <display value="Adrenomyodystrophy"/>
      </concept>
      <concept>
        <code value="978"/>
        <display value="ADULT syndrome"/>
      </concept>
      <concept>
        <code value="98"/>
        <display
                 value="Autosomal recessive spastic ataxia of Charlevoix-Saguenay"/>
      </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="98267"/>
        <display value="Genetic non-syndromic obesity"/>
      </concept>
      <concept>
        <code value="983"/>
        <display value="Testicular regression syndrome"/>
      </concept>
      <concept>
        <code value="984"/>
        <display value="Pulmonary agenesis"/>
      </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="988"/>
        <display
                 value="Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"/>
      </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="Refractory anemia"/>
      </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="989"/>
        <display value="Hypoglossia-hypodactyly syndrome"/>
      </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 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="98975"/>
        <display value="Congenital hereditary endothelial dystrophy type I"/>
      </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="990"/>
        <display value="Agnathia-holoprosencephaly-situs inversus syndrome"/>
      </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="991"/>
        <display value="PAGOD syndrome"/>
      </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="994"/>
        <display value="Fetal akinesia deformation sequence"/>
      </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="99647"/>
        <display value="Cheirospondyloenchondromatosis"/>
      </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="998"/>
        <display value="Albinism-deafness syndrome"/>
      </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 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="999"/>
        <display value="Ermine phenotype"/>
      </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="Malignant dysgerminomatous germ cell tumor of the ovary"/>
      </concept>
      <concept>
        <code value="99914"/>
        <display value="Gynandroblastoma"/>
      </concept>
      <concept>
        <code value="99915"/>
        <display value="Maligant 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>
    </include>
  </compose>
</ValueSet>