eHDSI Rare Disease - JSON Representation - MyHealth@Eu Hospital Discharge Report v0.0.1

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: eHDSI Rare Disease - JSON Representation

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{
  "resourceType" : "ValueSet",
  "id" : "eHDSIRareDisease",
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: ValueSet eHDSIRareDisease</b></p><a name=\"eHDSIRareDisease\"> </a><a name=\"hceHDSIRareDisease\"> </a><a name=\"eHDSIRareDisease-en-US\"> </a><ul><li>Include these codes as defined in <code>https://www.orpha.net</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>"
  },
  "extension" : [
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm",
      "valueInteger" : 1
    },
    {
      "url" : "http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status",
      "valueCode" : "draft"
    }
  ],
  "url" : "http://terminology.ehdsi.eu/ValueSet/eHDSIRareDisease",
  "identifier" : [
    {
      "system" : "urn:ietf:rfc:3986",
      "value" : "urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.42.63"
    }
  ],
  "version" : "0.0.1",
  "name" : "EHDSIRareDisease",
  "title" : "eHDSI Rare Disease",
  "status" : "draft",
  "experimental" : false,
  "date" : "2024-11-21T06:59:35+00:00",
  "publisher" : "MyHealth@Eu",
  "contact" : [
    {
      "name" : "MyHealth@Eu",
      "telecom" : [
        {
          "system" : "url",
          "value" : "https://health.ec.europa.eu/other-pages/basic-page/myhealtheu-flyer-addressed-patients-and-health-professionals_en"
        }
      ]
    }
  ],
  "description" : "The Value Set is used to describe the problems and medication reasons.",
  "jurisdiction" : [
    {
      "coding" : [
        {
          "system" : "http://unstats.un.org/unsd/methods/m49/m49.htm",
          "code" : "150",
          "display" : "Europe"
        }
      ]
    }
  ],
  "compose" : {
    "include" : [
      {
        "system" : "https://www.orpha.net",
        "concept" : [
          {
            "code" : "10",
            "display" : "48,XXYY syndrome"
          },
          {
            "code" : "100",
            "display" : "Ataxia-telangiectasia"
          },
          {
            "code" : "1000",
            "display" : "Ocular albinism with late-onset sensorineural deafness"
          },
          {
            "code" : "100000",
            "display" : "Reticular perineurioma"
          },
          {
            "code" : "100001",
            "display" : "Sclerosing perineurioma"
          },
          {
            "code" : "100002",
            "display" : "Extraneural perineurioma"
          },
          {
            "code" : "100003",
            "display" : "Intraneural perineurioma"
          },
          {
            "code" : "100006",
            "display" : "ABeta amyloidosis, Dutch type"
          },
          {
            "code" : "100008",
            "display" : "ACys amyloidosis"
          },
          {
            "code" : "100011",
            "display" : "Lissencephaly with cerebellar hypoplasia type A"
          },
          {
            "code" : "100012",
            "display" : "Lissencephaly with cerebellar hypoplasia type B"
          },
          {
            "code" : "100013",
            "display" : "Lissencephaly with cerebellar hypoplasia type C"
          },
          {
            "code" : "100014",
            "display" : "Lissencephaly with cerebellar hypoplasia type D"
          },
          {
            "code" : "100015",
            "display" : "Lissencephaly with cerebellar hypoplasia type E"
          },
          {
            "code" : "100016",
            "display" : "Lissencephaly with cerebellar hypoplasia type F"
          },
          {
            "code" : "100019",
            "display" : "Refractory anemia with excess blasts type 1"
          },
          {
            "code" : "100020",
            "display" : "Refractory anemia with excess blasts type 2"
          },
          {
            "code" : "100021",
            "display" : "Primary plasmacytoma of the bone"
          },
          {
            "code" : "100022",
            "display" : "Extramedullary soft tissue plasmacytoma"
          },
          {
            "code" : "100024",
            "display" : "Mu-heavy chain disease"
          },
          {
            "code" : "100025",
            "display" : "Alpha-heavy chain disease"
          },
          {
            "code" : "100026",
            "display" : "Gamma-heavy chain disease"
          },
          {
            "code" : "100031",
            "display" : "Hypoplastic amelogenesis imperfecta"
          },
          {
            "code" : "100032",
            "display" : "Hypocalcified amelogenesis imperfecta"
          },
          {
            "code" : "100033",
            "display" : "Hypomaturation amelogenesis imperfecta"
          },
          {
            "code" : "100034",
            "display" : "Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism"
          },
          {
            "code" : "100035",
            "display" : "Solitary necrotic nodule of the liver"
          },
          {
            "code" : "100043",
            "display" : "Autosomal dominant intermediate Charcot-Marie-Tooth disease type A"
          },
          {
            "code" : "100044",
            "display" : "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B"
          },
          {
            "code" : "100045",
            "display" : "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C"
          },
          {
            "code" : "100046",
            "display" : "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D"
          },
          {
            "code" : "100047",
            "display" : "Esophageal duplication cyst"
          },
          {
            "code" : "100048",
            "display" : "Tubular duplication of the esophagus"
          },
          {
            "code" : "100050",
            "display" : "Hereditary angioedema type 1"
          },
          {
            "code" : "100051",
            "display" : "Hereditary angioedema type 2"
          },
          {
            "code" : "100054",
            "display" : "F12-related hereditary angioedema with normal C1Inh"
          },
          {
            "code" : "100055",
            "display" : "Acquired angioedema type 2"
          },
          {
            "code" : "100056",
            "display" : "Acquired angioedema type 1"
          },
          {
            "code" : "100057",
            "display" : "Renin-angiotensin-aldosterone system-blocker-induced angioedema"
          },
          {
            "code" : "100067",
            "display" : "Waterhouse-Friderichsen syndrome"
          },
          {
            "code" : "100069",
            "display" : "Semantic dementia"
          },
          {
            "code" : "100070",
            "display" : "Progressive non-fluent aphasia"
          },
          {
            "code" : "100071",
            "display" : "Mosaic trisomy 3"
          },
          {
            "code" : "100073",
            "display" : "Neurogenic thoracic outlet syndrome"
          },
          {
            "code" : "100075",
            "display" : "Neuroendocrine tumor of stomach"
          },
          {
            "code" : "100078",
            "display" : "Ileal neuroendocrine tumor"
          },
          {
            "code" : "100079",
            "display" : "Neuroendocrine neoplasm of appendix"
          },
          {
            "code" : "100080",
            "display" : "Neuroendocrine tumor of the colon"
          },
          {
            "code" : "100081",
            "display" : "Neuroendocrine tumor of the rectum"
          },
          {
            "code" : "100082",
            "display" : "Neuroendocrine tumor of anal canal"
          },
          {
            "code" : "100083",
            "display" : "Laryngeal neuroendocrine tumor"
          },
          {
            "code" : "100084",
            "display" : "Middle ear neuroendocrine tumor"
          },
          {
            "code" : "100085",
            "display" : "Primary hepatic neuroendocrine carcinoma"
          },
          {
            "code" : "100086",
            "display" : "Gallbladder neuroendocrine tumor"
          },
          {
            "code" : "100093",
            "display" : "Carcinoid syndrome"
          },
          {
            "code" : "1001",
            "display" : "2q37 microdeletion syndrome"
          },
          {
            "code" : "1003",
            "display" : "Scalp defects-postaxial polydactyly syndrome"
          },
          {
            "code" : "1005",
            "display" : "Alopecia-contractures-dwarfism-intellectual disability syndrome"
          },
          {
            "code" : "1006",
            "display" : "Alopecia antibody deficiency"
          },
          {
            "code" : "1008",
            "display" : "Alopecia-epilepsy-pyorrhea-intellectual disability syndrome"
          },
          {
            "code" : "100924",
            "display" : "Porphyria due to ALA dehydratase deficiency"
          },
          {
            "code" : "100973",
            "display" : "FRAXE intellectual disability"
          },
          {
            "code" : "100974",
            "display" : "FRAXF syndrome"
          },
          {
            "code" : "100976",
            "display" : "Bathing suit ichthyosis"
          },
          {
            "code" : "100978",
            "display" : "Cloverleaf skull-asphyxiating thoracic dysplasia syndrome"
          },
          {
            "code" : "100984",
            "display" : "Autosomal dominant spastic paraplegia type 3"
          },
          {
            "code" : "100985",
            "display" : "Autosomal dominant spastic paraplegia type 4"
          },
          {
            "code" : "100986",
            "display" : "Autosomal recessive spastic paraplegia type 5A"
          },
          {
            "code" : "100988",
            "display" : "Autosomal dominant spastic paraplegia type 6"
          },
          {
            "code" : "100989",
            "display" : "Autosomal dominant spastic paraplegia type 8"
          },
          {
            "code" : "100991",
            "display" : "Autosomal dominant spastic paraplegia type 10"
          },
          {
            "code" : "100993",
            "display" : "Autosomal dominant spastic paraplegia type 12"
          },
          {
            "code" : "100994",
            "display" : "Autosomal dominant spastic paraplegia type 13"
          },
          {
            "code" : "100995",
            "display" : "Autosomal recessive spastic paraplegia type 14"
          },
          {
            "code" : "100996",
            "display" : "Autosomal recessive spastic paraplegia type 15"
          },
          {
            "code" : "100997",
            "display" : "X-linked spastic paraplegia type 16"
          },
          {
            "code" : "100998",
            "display" : "Autosomal dominant spastic paraplegia type 17"
          },
          {
            "code" : "100999",
            "display" : "Autosomal dominant spastic paraplegia type 19"
          },
          {
            "code" : "101",
            "display" : "Dentatorubral pallidoluysian atrophy"
          },
          {
            "code" : "1010",
            "display" : "Autosomal dominant palmoplantar keratoderma and congenital alopecia"
          },
          {
            "code" : "101000",
            "display" : "Autosomal recessive spastic paraplegia type 20"
          },
          {
            "code" : "101001",
            "display" : "Autosomal recessive spastic paraplegia type 21"
          },
          {
            "code" : "101003",
            "display" : "Autosomal recessive spastic paraplegia type 23"
          },
          {
            "code" : "101004",
            "display" : "Autosomal recessive spastic paraplegia type 24"
          },
          {
            "code" : "101005",
            "display" : "Autosomal recessive spastic paraplegia type 25"
          },
          {
            "code" : "101006",
            "display" : "Autosomal recessive spastic paraplegia type 26"
          },
          {
            "code" : "101007",
            "display" : "Autosomal recessive spastic paraplegia type 27"
          },
          {
            "code" : "101008",
            "display" : "Autosomal recessive spastic paraplegia type 28"
          },
          {
            "code" : "101009",
            "display" : "Autosomal dominant spastic paraplegia type 29"
          },
          {
            "code" : "101010",
            "display" : "Autosomal spastic paraplegia type 30"
          },
          {
            "code" : "101011",
            "display" : "Autosomal dominant spastic paraplegia type 31"
          },
          {
            "code" : "101016",
            "display" : "Romano-Ward syndrome"
          },
          {
            "code" : "101023",
            "display" : "Cleft hard palate"
          },
          {
            "code" : "101028",
            "display" : "Transaldolase deficiency"
          },
          {
            "code" : "101029",
            "display" : "Sub-cortical nodular heterotopia"
          },
          {
            "code" : "101030",
            "display" : "Subependymal nodular heterotopia"
          },
          {
            "code" : "101039",
            "display" : "Female restricted epilepsy with intellectual disability"
          },
          {
            "code" : "101041",
            "display" : "Familial hypofibrinogenemia"
          },
          {
            "code" : "101043",
            "display" : "Congenital aortic valve dysplasia"
          },
          {
            "code" : "101046",
            "display" : "Autosomal dominant epilepsy with auditory features"
          },
          {
            "code" : "101049",
            "display" : "Familial hypocalciuric hypercalcemia type 2"
          },
          {
            "code" : "101050",
            "display" : "Familial hypocalciuric hypercalcemia type 3"
          },
          {
            "code" : "101063",
            "display" : "Situs inversus totalis"
          },
          {
            "code" : "101068",
            "display" : "Congenital stromal corneal dystrophy"
          },
          {
            "code" : "101070",
            "display" : "Bilateral frontoparietal polymicrogyria"
          },
          {
            "code" : "101071",
            "display" : "Unilateral hemispheric polymicrogyria"
          },
          {
            "code" : "101075",
            "display" : "X-linked Charcot-Marie-Tooth disease type 1"
          },
          {
            "code" : "101076",
            "display" : "X-linked Charcot-Marie-Tooth disease type 2"
          },
          {
            "code" : "101077",
            "display" : "X-linked Charcot-Marie-Tooth disease type 3"
          },
          {
            "code" : "101078",
            "display" : "X-linked Charcot-Marie-Tooth disease type 4"
          },
          {
            "code" : "101081",
            "display" : "Charcot-Marie-Tooth disease type 1A"
          },
          {
            "code" : "101082",
            "display" : "Charcot-Marie-Tooth disease type 1B"
          },
          {
            "code" : "101083",
            "display" : "Charcot-Marie-Tooth disease type 1C"
          },
          {
            "code" : "101084",
            "display" : "Charcot-Marie-Tooth disease type 1D"
          },
          {
            "code" : "101085",
            "display" : "Charcot-Marie-Tooth disease type 1F"
          },
          {
            "code" : "101088",
            "display" : "X-linked hyper-IgM syndrome"
          },
          {
            "code" : "101089",
            "display" : "Hyper-IgM syndrome type 2"
          },
          {
            "code" : "101090",
            "display" : "Hyper-IgM syndrome type 3"
          },
          {
            "code" : "101091",
            "display" : "Hyper-IgM syndrome type 4"
          },
          {
            "code" : "101092",
            "display" : "Hyper-IgM syndrome type 5"
          },
          {
            "code" : "101096",
            "display" : "Aregenerative anemia"
          },
          {
            "code" : "101097",
            "display" : "Autosomal recessive Charcot-Marie-Tooth disease with hoarseness"
          },
          {
            "code" : "101101",
            "display" : "Charcot-Marie-Tooth disease type 2B2"
          },
          {
            "code" : "101102",
            "display" : "Charcot-Marie-Tooth disease type 2H"
          },
          {
            "code" : "101104",
            "display" : "Marin-Amat syndrome"
          },
          {
            "code" : "101108",
            "display" : "Spinocerebellar ataxia type 23"
          },
          {
            "code" : "101109",
            "display" : "Spinocerebellar ataxia type 28"
          },
          {
            "code" : "101110",
            "display" : "Spinocerebellar ataxia type 20"
          },
          {
            "code" : "101111",
            "display" : "Spinocerebellar ataxia type 25"
          },
          {
            "code" : "101112",
            "display" : "Spinocerebellar ataxia type 26"
          },
          {
            "code" : "101150",
            "display" : "Autosomal recessive dopa-responsive dystonia"
          },
          {
            "code" : "101206",
            "display" : "Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome"
          },
          {
            "code" : "101330",
            "display" : "Porphyria cutanea tarda"
          },
          {
            "code" : "101334",
            "display" : "African tick typhus"
          },
          {
            "code" : "101351",
            "display" : "Familial isolated congenital asplenia"
          },
          {
            "code" : "1014",
            "display" : "Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome"
          },
          {
            "code" : "101685",
            "display" : "Rare non-syndromic intellectual disability"
          },
          {
            "code" : "1018",
            "display" : "X-linked Alport syndrome-diffuse leiomyomatosis"
          },
          {
            "code" : "101932",
            "display" : "Anomaly of the mitral subvalvular apparatus"
          },
          {
            "code" : "102",
            "display" : "Multiple system atrophy"
          },
          {
            "code" : "1020",
            "display" : "Early-onset autosomal dominant Alzheimer disease"
          },
          {
            "code" : "1021",
            "display" : "Amaurosis-hypertrichosis syndrome"
          },
          {
            "code" : "1023",
            "display" : "Congenital generalized hypertrichosis, Ambras type"
          },
          {
            "code" : "102379",
            "display" : "Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent"
          },
          {
            "code" : "102381",
            "display" : "Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor"
          },
          {
            "code" : "1027",
            "display" : "Autosomal recessive amelia"
          },
          {
            "code" : "102724",
            "display" : "Acute myeloid leukemia with t(8;21)(q22;q22) translocation"
          },
          {
            "code" : "1028",
            "display" : "Amelo-onycho-hypohidrotic syndrome"
          },
          {
            "code" : "1031",
            "display" : "Enamel-renal syndrome"
          },
          {
            "code" : "1035",
            "display" : "Beta-mercaptolactate cysteine disulfiduria"
          },
          {
            "code" : "103907",
            "display" : "Chronic diarrhea due to glucoamylase deficiency"
          },
          {
            "code" : "103908",
            "display" : "Congenital sodium diarrhea"
          },
          {
            "code" : "103909",
            "display" : "Trehalase deficiency"
          },
          {
            "code" : "103910",
            "display" : "Congenital enterocyte heparan sulfate deficiency"
          },
          {
            "code" : "103918",
            "display" : "Tropical pancreatitis"
          },
          {
            "code" : "103920",
            "display" : "Undetermined colitis"
          },
          {
            "code" : "104",
            "display" : "Leber hereditary optic neuropathy"
          },
          {
            "code" : "1040",
            "display" : "Metaphyseal anadysplasia"
          },
          {
            "code" : "104075",
            "display" : "Adenocarcinoma of the small intestine"
          },
          {
            "code" : "104076",
            "display" : "Leiomyosarcoma of small intestine"
          },
          {
            "code" : "104077",
            "display" : "Myopathic intestinal pseudoobstruction"
          },
          {
            "code" : "104078",
            "display" : "Unclassified intestinal pseudoobstruction"
          },
          {
            "code" : "1041",
            "display" : "Hydrops fetalis"
          },
          {
            "code" : "1046",
            "display" : "Lethal hemolytic anemia-genital anomalies syndrome"
          },
          {
            "code" : "1048",
            "display" : "Isolated anencephaly/exencephaly"
          },
          {
            "code" : "105",
            "display" : "Atresia of urethra"
          },
          {
            "code" : "1051",
            "display" : "Ramos-Arroyo syndrome"
          },
          {
            "code" : "1052",
            "display" : "Mosaic variegated aneuploidy syndrome"
          },
          {
            "code" : "1053",
            "display" : "Vein of Galen aneurysmal malformation"
          },
          {
            "code" : "1054",
            "display" : "Aneurysm of sinus of Valsalva"
          },
          {
            "code" : "1055",
            "display" : "Congenital left ventricular aneurysm"
          },
          {
            "code" : "1059",
            "display" : "Blue rubber bleb nevus"
          },
          {
            "code" : "1062",
            "display" : "Hereditary neurocutaneous malformation"
          },
          {
            "code" : "1063",
            "display" : "Tufted angioma"
          },
          {
            "code" : "1064",
            "display" : "Aniridia-renal agenesis-psychomotor retardation syndrome"
          },
          {
            "code" : "1065",
            "display" : "Aniridia-cerebellar ataxia-intellectual disability syndrome"
          },
          {
            "code" : "1067",
            "display" : "Aniridia-ptosis-intellectual disability-familial obesity syndrome"
          },
          {
            "code" : "1068",
            "display" : "Aniridia-intellectual disability syndrome"
          },
          {
            "code" : "1069",
            "display" : "Aniridia-absent patella syndrome"
          },
          {
            "code" : "107",
            "display" : "BOR syndrome"
          },
          {
            "code" : "1070",
            "display" : "Anisakiasis"
          },
          {
            "code" : "1071",
            "display" : "Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"
          },
          {
            "code" : "1072",
            "display" : "Ankyloblepharon filiforme adnatum-cleft palate syndrome"
          },
          {
            "code" : "1074",
            "display" : "Ankyloblepharon filiforme adnatum-imperforate anus syndrome"
          },
          {
            "code" : "1077",
            "display" : "Dental ankylosis"
          },
          {
            "code" : "1078",
            "display" : "Thumb stiffness-brachydactyly-intellectual disability syndrome"
          },
          {
            "code" : "108",
            "display" : "Babesiosis"
          },
          {
            "code" : "1083",
            "display" : "Microlissencephaly"
          },
          {
            "code" : "1084",
            "display" : "Isolated lissencephaly type 1 without known genetic defects"
          },
          {
            "code" : "109",
            "display" : "Bannayan-Riley-Ruvalcaba syndrome"
          },
          {
            "code" : "1094",
            "display" : "Anonychia-microcephaly syndrome"
          },
          {
            "code" : "11",
            "display" : "Pentasomy X"
          },
          {
            "code" : "110",
            "display" : "Bardet-Biedl syndrome"
          },
          {
            "code" : "1101",
            "display" : "Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome"
          },
          {
            "code" : "1104",
            "display" : "Anophthalmia plus syndrome"
          },
          {
            "code" : "1106",
            "display" : "Microphthalmia with limb anomalies"
          },
          {
            "code" : "111",
            "display" : "Barth syndrome"
          },
          {
            "code" : "1110",
            "display" : "Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome"
          },
          {
            "code" : "1112",
            "display" : "Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome"
          },
          {
            "code" : "1113",
            "display" : "Aphalangy-syndactyly-microcephaly syndrome"
          },
          {
            "code" : "1114",
            "display" : "Aplasia cutis congenita"
          },
          {
            "code" : "1116",
            "display" : "Aplasia cutis congenita-intestinal lymphangiectasia syndrome"
          },
          {
            "code" : "1117",
            "display" : "Aplasia cutis-myopia syndrome"
          },
          {
            "code" : "1118",
            "display" : "Fibular aplasia-ectrodactyly syndrome"
          },
          {
            "code" : "112",
            "display" : "Bartter syndrome"
          },
          {
            "code" : "1120",
            "display" : "Lung agenesis-heart defect-thumb anomalies syndrome"
          },
          {
            "code" : "1121",
            "display" : "Radial deficiency-tibial hypoplasia syndrome"
          },
          {
            "code" : "1122",
            "display" : "Ulnar hypoplasia-split foot syndrome"
          },
          {
            "code" : "1123",
            "display" : "Caudal appendage-deafness syndrome"
          },
          {
            "code" : "1125",
            "display" : "Ocular motor apraxia, Cogan type"
          },
          {
            "code" : "1126",
            "display" : "Aprosencephaly cerebellar dysgenesis"
          },
          {
            "code" : "1129",
            "display" : "Arachnodactyly-abnormal ossification-intellectual disability syndrome"
          },
          {
            "code" : "113",
            "display" : "Bazex-Dupré-Christol syndrome"
          },
          {
            "code" : "1130",
            "display" : "Arachnodactyly-intellectual disability-dysmorphism syndrome"
          },
          {
            "code" : "1131",
            "display" : "X-linked mandibulofacial dysostosis"
          },
          {
            "code" : "1133",
            "display" : "AREDYLD syndrome"
          },
          {
            "code" : "1134",
            "display" : "Isolated arrhinia"
          },
          {
            "code" : "1135",
            "display" : "Arrhinia-choanal atresia-microphthalmia syndrome"
          },
          {
            "code" : "114",
            "display" : "Auriculoosteodysplasia"
          },
          {
            "code" : "1143",
            "display" : "Neurogenic arthrogryposis multiplex congenita"
          },
          {
            "code" : "1144",
            "display" : "Arthrogryposis-like hand anomaly-sensorineural deafness syndrome"
          },
          {
            "code" : "1145",
            "display" : "Infantile-onset X-linked spinal muscular atrophy"
          },
          {
            "code" : "1146",
            "display" : "Distal arthrogryposis type 1"
          },
          {
            "code" : "1147",
            "display" : "Sheldon-Hall syndrome"
          },
          {
            "code" : "1149",
            "display" : "Kuskokwim syndrome"
          },
          {
            "code" : "115",
            "display" : "Congenital contractural arachnodactyly"
          },
          {
            "code" : "1150",
            "display" : "Arthrogryposis multiplex congenita-whistling face syndrome"
          },
          {
            "code" : "1154",
            "display" : "Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome"
          },
          {
            "code" : "1159",
            "display" : "Progressive pseudorheumatoid arthropathy of childhood"
          },
          {
            "code" : "116",
            "display" : "Beckwith-Wiedemann syndrome"
          },
          {
            "code" : "1160",
            "display" : "Chylous ascites"
          },
          {
            "code" : "1163",
            "display" : "Aspergillosis"
          },
          {
            "code" : "1164",
            "display" : "Allergic bronchopulmonary aspergillosis"
          },
          {
            "code" : "1166",
            "display" : "Congenital unilateral hypoplasia of depressor anguli oris"
          },
          {
            "code" : "1168",
            "display" : "Ataxia-oculomotor apraxia type 1"
          },
          {
            "code" : "117",
            "display" : "Behçet disease"
          },
          {
            "code" : "1170",
            "display" : "Autosomal recessive cerebelloparenchymal disorder type 3"
          },
          {
            "code" : "1171",
            "display" : "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome"
          },
          {
            "code" : "1173",
            "display" : "Cerebellar ataxia-hypogonadism syndrome"
          },
          {
            "code" : "1174",
            "display" : "Cerebellar ataxia-ectodermal dysplasia syndrome"
          },
          {
            "code" : "1175",
            "display" : "X-linked progressive cerebellar ataxia"
          },
          {
            "code" : "1177",
            "display" : "Early-onset cerebellar ataxia with retained tendon reflexes"
          },
          {
            "code" : "1178",
            "display" : "Ataxia-tapetoretinal degeneration syndrome"
          },
          {
            "code" : "1179",
            "display" : "Benign paroxysmal tonic upgaze of childhood with ataxia"
          },
          {
            "code" : "118",
            "display" : "Beta-mannosidosis"
          },
          {
            "code" : "1180",
            "display" : "Ataxia-hypogonadism-choroidal dystrophy syndrome"
          },
          {
            "code" : "1182",
            "display" : "Spastic ataxia with congenital miosis"
          },
          {
            "code" : "1183",
            "display" : "Opsoclonus-myoclonus syndrome"
          },
          {
            "code" : "1184",
            "display" : "Ataxia-photosensitivity-short stature syndrome"
          },
          {
            "code" : "1185",
            "display" : "Spinocerebellar ataxia-dysmorphism syndrome"
          },
          {
            "code" : "1186",
            "display" : "Infantile-onset spinocerebellar ataxia"
          },
          {
            "code" : "1187",
            "display" : "Lethal ataxia with deafness and optic atrophy"
          },
          {
            "code" : "1188",
            "display" : "Ataxia-deafness-intellectual disability syndrome"
          },
          {
            "code" : "119",
            "display" : "Beta-sarcoglycan-related limb-girdle muscular dystrophy R4"
          },
          {
            "code" : "1190",
            "display" : "Atelosteogenesis type I"
          },
          {
            "code" : "1192",
            "display" : "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome"
          },
          {
            "code" : "1193",
            "display" : "Atkin-Flaitz syndrome"
          },
          {
            "code" : "1194",
            "display" : "TMEM70-related mitochondrial encephalo-cardio-myopathy"
          },
          {
            "code" : "1195",
            "display" : "Congenital atransferrinemia"
          },
          {
            "code" : "1198",
            "display" : "Colonic atresia"
          },
          {
            "code" : "1199",
            "display" : "Esophageal atresia"
          },
          {
            "code" : "1200",
            "display" : "Burn-McKeown syndrome"
          },
          {
            "code" : "1201",
            "display" : "Small bowel atresia"
          },
          {
            "code" : "1202",
            "display" : "Larynx atresia"
          },
          {
            "code" : "1203",
            "display" : "Duodenal atresia"
          },
          {
            "code" : "1205",
            "display" : "Mitral atresia"
          },
          {
            "code" : "1207",
            "display" : "Pulmonary atresia with ventricular septal defect"
          },
          {
            "code" : "1208",
            "display" : "Pulmonary atresia-intact ventricular septum syndrome"
          },
          {
            "code" : "1209",
            "display" : "Tricuspid atresia"
          },
          {
            "code" : "1214",
            "display" : "Progressive hemifacial atrophy"
          },
          {
            "code" : "1215",
            "display" : "Autosomal dominant optic atrophy plus syndrome"
          },
          {
            "code" : "1216",
            "display" : "Autosomal dominant congenital benign spinal muscular atrophy"
          },
          {
            "code" : "1217",
            "display" : "Spinal atrophy-ophthalmoplegia-pyramidal syndrome"
          },
          {
            "code" : "122",
            "display" : "Birt-Hogg-Dubé syndrome"
          },
          {
            "code" : "1221",
            "display" : "Cheilitis glandularis"
          },
          {
            "code" : "1223",
            "display" : "Balantidiasis"
          },
          {
            "code" : "1225",
            "display" : "Baller-Gerold syndrome"
          },
          {
            "code" : "1226",
            "display" : "Bamforth-Lazarus syndrome"
          },
          {
            "code" : "1227",
            "display" : "Bangstad syndrome"
          },
          {
            "code" : "1228",
            "display" : "Banki syndrome"
          },
          {
            "code" : "1229",
            "display" : "Congenital intrauterine infection-like syndrome"
          },
          {
            "code" : "123",
            "display" : "Björnstad syndrome"
          },
          {
            "code" : "1231",
            "display" : "Barber-Say syndrome"
          },
          {
            "code" : "1234",
            "display" : "Bartsocas-Papas syndrome"
          },
          {
            "code" : "1236",
            "display" : "Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome"
          },
          {
            "code" : "1237",
            "display" : "Beemer-Ertbruggen syndrome"
          },
          {
            "code" : "124",
            "display" : "Diamond-Blackfan anemia"
          },
          {
            "code" : "1240",
            "display" : "Metaphyseal acroscyphodysplasia"
          },
          {
            "code" : "1241",
            "display" : "Bencze syndrome"
          },
          {
            "code" : "1243",
            "display" : "Best vitelliform macular dystrophy"
          },
          {
            "code" : "1246",
            "display" : "Brachydactyly-nystagmus-cerebellar ataxia syndrome"
          },
          {
            "code" : "1247",
            "display" : "Schistosomiasis"
          },
          {
            "code" : "1248",
            "display" : "Maxillonasal dysplasia"
          },
          {
            "code" : "125",
            "display" : "Bloom syndrome"
          },
          {
            "code" : "1252",
            "display" : "Blepharonasofacial malformation syndrome"
          },
          {
            "code" : "1253",
            "display" : "Ascher syndrome"
          },
          {
            "code" : "1259",
            "display" : "Blepharoptosis-myopia-ectopia lentis syndrome"
          },
          {
            "code" : "126",
            "display" : "Blepharophimosis-ptosis-epicanthus inversus syndrome"
          },
          {
            "code" : "1261",
            "display" : "Bonnemann-Meinecke-Reich syndrome"
          },
          {
            "code" : "1262",
            "display" : "Böök syndrome"
          },
          {
            "code" : "1263",
            "display" : "Boomerang dysplasia"
          },
          {
            "code" : "1264",
            "display" : "Tricho-retino-dento-digital syndrome"
          },
          {
            "code" : "1267",
            "display" : "Botulism"
          },
          {
            "code" : "127",
            "display" : "Borjeson-Forssman-Lehmann syndrome"
          },
          {
            "code" : "1270",
            "display" : "Bowen-Conradi syndrome"
          },
          {
            "code" : "1272",
            "display" : "Aymé-Gripp syndrome"
          },
          {
            "code" : "1275",
            "display" : "Brachydactyly-elbow wrist dysplasia syndrome"
          },
          {
            "code" : "1276",
            "display" : "Brachydactyly-arterial hypertension syndrome"
          },
          {
            "code" : "1277",
            "display" : "Brachydactyly-mesomelia-intellectual disability-heart defects syndrome"
          },
          {
            "code" : "1278",
            "display" : "Brachydactyly-preaxial hallux varus syndrome"
          },
          {
            "code" : "128",
            "display" : "Diphyllobothriasis"
          },
          {
            "code" : "129",
            "display" : "Pseudopelade of Brocq"
          },
          {
            "code" : "1292",
            "display" : "Brachymorphism-onychodysplasia-dysphalangism syndrome"
          },
          {
            "code" : "1295",
            "display" : "Brachytelephalangy-dysmorphism-Kallmann syndrome"
          },
          {
            "code" : "1296",
            "display" : "Lambert syndrome"
          },
          {
            "code" : "1297",
            "display" : "Branchio-oculo-facial syndrome"
          },
          {
            "code" : "1299",
            "display" : "Branchioskeletogenital syndrome"
          },
          {
            "code" : "13",
            "display" : "6-pyruvoyl-tetrahydropterin synthase deficiency"
          },
          {
            "code" : "130",
            "display" : "Brugada syndrome"
          },
          {
            "code" : "1300",
            "display" : "Autosomal dominant popliteal pterygium syndrome"
          },
          {
            "code" : "1302",
            "display" : "Cryptogenic organizing pneumonia"
          },
          {
            "code" : "1303",
            "display" : "Bronchiolitis obliterans with obstructive pulmonary disease"
          },
          {
            "code" : "1304",
            "display" : "Brucellosis"
          },
          {
            "code" : "1305",
            "display" : "Feingold syndrome"
          },
          {
            "code" : "1307",
            "display" : "Distal limb deficiencies-micrognathia syndrome"
          },
          {
            "code" : "1308",
            "display" : "C syndrome"
          },
          {
            "code" : "1309",
            "display" : "Medullary sponge kidney"
          },
          {
            "code" : "131",
            "display" : "Budd-Chiari syndrome"
          },
          {
            "code" : "1310",
            "display" : "Caffey disease"
          },
          {
            "code" : "1313",
            "display" : "Infantile choroidocerebral calcification syndrome"
          },
          {
            "code" : "1314",
            "display" : "Symmetrical thalamic calcifications"
          },
          {
            "code" : "1318",
            "display" : "Campomelia, Cumming type"
          },
          {
            "code" : "1319",
            "display" : "Camptobrachydactyly"
          },
          {
            "code" : "132",
            "display" : "Butyrylcholinesterase deficiency"
          },
          {
            "code" : "1320",
            "display" : "Idiopathic camptocormia"
          },
          {
            "code" : "1321",
            "display" : "Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome"
          },
          {
            "code" : "1323",
            "display" : "Camptodactyly-joint contractures-facial skeletal defects syndrome"
          },
          {
            "code" : "1325",
            "display" : "Camptodactyly-taurinuria syndrome"
          },
          {
            "code" : "1326",
            "display" : "Camptodactyly syndrome, Guadalajara type 2"
          },
          {
            "code" : "1327",
            "display" : "Camptodactyly syndrome, Guadalajara type 1"
          },
          {
            "code" : "1328",
            "display" : "Camurati-Engelmann disease"
          },
          {
            "code" : "1329",
            "display" : "Complete atrioventricular septal defect"
          },
          {
            "code" : "133",
            "display" : "Chronic beryllium disease"
          },
          {
            "code" : "1330",
            "display" : "Partial atrioventricular septal defect"
          },
          {
            "code" : "1331",
            "display" : "Familial prostate cancer"
          },
          {
            "code" : "1332",
            "display" : "Medullary thyroid carcinoma"
          },
          {
            "code" : "1333",
            "display" : "Familial pancreatic carcinoma"
          },
          {
            "code" : "1334",
            "display" : "Chronic mucocutaneous candidiasis"
          },
          {
            "code" : "1335",
            "display" : "Pentalogy of Cantrell"
          },
          {
            "code" : "1336",
            "display" : "Hyperkeratosis-hyperpigmentation syndrome"
          },
          {
            "code" : "1338",
            "display" : "Heart defect-tongue hamartoma-polysyndactyly syndrome"
          },
          {
            "code" : "134",
            "display" : "Beta-ketothiolase deficiency"
          },
          {
            "code" : "1340",
            "display" : "Cardiofaciocutaneous syndrome"
          },
          {
            "code" : "1342",
            "display" : "Heart-hand syndrome type 3"
          },
          {
            "code" : "1344",
            "display" : "Atrial standstill"
          },
          {
            "code" : "1345",
            "display" : "Cardiomyopathy-cataract-hip spine disease syndrome"
          },
          {
            "code" : "1349",
            "display" : "Mitochondrial DNA-related cardiomyopathy and hearing loss"
          },
          {
            "code" : "135",
            "display" : "CACH syndrome"
          },
          {
            "code" : "1350",
            "display" : "Heart-hand syndrome type 2"
          },
          {
            "code" : "1352",
            "display" : "Atrioventricular defect-blepharophimosis-radial and anal defect syndrome"
          },
          {
            "code" : "1354",
            "display" : "Heart defects-limb shortening syndrome"
          },
          {
            "code" : "1355",
            "display" : "Congenital heart defect-round face-developmental delay syndrome"
          },
          {
            "code" : "1358",
            "display" : "Carey-Fineman-Ziter syndrome"
          },
          {
            "code" : "1359",
            "display" : "Carney complex"
          },
          {
            "code" : "136",
            "display" : "Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy"
          },
          {
            "code" : "1361",
            "display" : "Carnosinase deficiency"
          },
          {
            "code" : "1366",
            "display" : "Autosomal recessive palmoplantar keratoderma and congenital alopecia"
          },
          {
            "code" : "1368",
            "display" : "Cataract-ataxia-deafness syndrome"
          },
          {
            "code" : "1369",
            "display" : "Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome"
          },
          {
            "code" : "1373",
            "display" : "Cataract-aberrant oral frenula-growth delay syndrome"
          },
          {
            "code" : "1375",
            "display" : "Cataract-hypertrichosis-intellectual disability syndrome"
          },
          {
            "code" : "137577",
            "display" : "Neonatal hypoxic and ischemic brain injury"
          },
          {
            "code" : "137583",
            "display" : "Vulvar intraepithelial neoplasia"
          },
          {
            "code" : "137593",
            "display" : "Infectious epithelial keratitis"
          },
          {
            "code" : "137596",
            "display" : "Neurotrophic keratopathy"
          },
          {
            "code" : "137599",
            "display" : "Herpes simplex virus stromal keratitis"
          },
          {
            "code" : "137602",
            "display" : "Corneal endotheliitis"
          },
          {
            "code" : "137605",
            "display" : "Legius syndrome"
          },
          {
            "code" : "137608",
            "display" : "Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome"
          },
          {
            "code" : "137617",
            "display" : "Nephrogenic systemic fibrosis"
          },
          {
            "code" : "137622",
            "display" : "Intractable diarrhea-choanal atresia-eye anomalies syndrome"
          },
          {
            "code" : "137625",
            "display" : "Glycogen storage disease due to muscle and heart glycogen synthase deficiency"
          },
          {
            "code" : "137628",
            "display" : "Cardiac anomalies-heterotaxy syndrome"
          },
          {
            "code" : "137631",
            "display" : "Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome"
          },
          {
            "code" : "137634",
            "display" : "Overgrowth-macrocephaly-facial dysmorphism syndrome"
          },
          {
            "code" : "137639",
            "display" : "Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome"
          },
          {
            "code" : "137667",
            "display" : "Capillary malformation-arteriovenous malformation"
          },
          {
            "code" : "137672",
            "display" : "Pellucid marginal degeneration"
          },
          {
            "code" : "137675",
            "display" : "Histiocytoid cardiomyopathy"
          },
          {
            "code" : "137678",
            "display" : "Spondyloepiphyseal dysplasia with metatarsal shortening"
          },
          {
            "code" : "137681",
            "display" : "Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1"
          },
          {
            "code" : "137686",
            "display" : "Asherman syndrome"
          },
          {
            "code" : "137698",
            "display" : "Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk"
          },
          {
            "code" : "1377",
            "display" : "Cataract-microcornea syndrome"
          },
          {
            "code" : "137754",
            "display" : "Neurological conditions associated with aminoacylase 1 deficiency"
          },
          {
            "code" : "137776",
            "display" : "Lethal congenital contracture syndrome type 2"
          },
          {
            "code" : "137783",
            "display" : "Lethal congenital contracture syndrome type 3"
          },
          {
            "code" : "137810",
            "display" : "Nodular cutaneous amyloidosis"
          },
          {
            "code" : "137814",
            "display" : "Macular amyloidosis"
          },
          {
            "code" : "137817",
            "display" : "Arachnoiditis"
          },
          {
            "code" : "137820",
            "display" : "Extrapelvic endometriosis"
          },
          {
            "code" : "137831",
            "display" : "X-linked intellectual disability-cerebellar hypoplasia syndrome"
          },
          {
            "code" : "137834",
            "display" : "Frank-Ter Haar syndrome"
          },
          {
            "code" : "137839",
            "display" : "Lemierre syndrome"
          },
          {
            "code" : "137867",
            "display" : "Madras motor neuron disease"
          },
          {
            "code" : "137888",
            "display" : "Auriculocondylar syndrome"
          },
          {
            "code" : "137893",
            "display" : "Male infertility due to large-headed multiflagellar polyploid spermatozoa"
          },
          {
            "code" : "137898",
            "display" : "Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome"
          },
          {
            "code" : "137908",
            "display" : "Hypotonia with lactic acidemia and hyperammonemia"
          },
          {
            "code" : "137914",
            "display" : "Choanal atresia"
          },
          {
            "code" : "137917",
            "display" : "Choanal atresia, unilateral"
          },
          {
            "code" : "137920",
            "display" : "Choanal atresia, bilateral"
          },
          {
            "code" : "137926",
            "display" : "Primary laryngeal lymphangioma"
          },
          {
            "code" : "137929",
            "display" : "Neonatal brainstem dysfunction"
          },
          {
            "code" : "137932",
            "display" : "Congenital laryngeal palsy"
          },
          {
            "code" : "137935",
            "display" : "Laryngotracheal angioma"
          },
          {
            "code" : "138",
            "display" : "CHARGE syndrome"
          },
          {
            "code" : "1380",
            "display" : "Cataract-nephropathy-encephalopathy syndrome"
          },
          {
            "code" : "1381",
            "display" : "Cataract-intellectual disability-anal atresia-urinary defects syndrome"
          },
          {
            "code" : "1383",
            "display" : "Cataract-deafness-hypogonadism syndrome"
          },
          {
            "code" : "1387",
            "display" : "Cataract-intellectual disability-hypogonadism syndrome"
          },
          {
            "code" : "1388",
            "display" : "Catel-Manzke syndrome"
          },
          {
            "code" : "1389",
            "display" : "Cortical blindness-intellectual disability-polydactyly syndrome"
          },
          {
            "code" : "139",
            "display" : "CHILD syndrome"
          },
          {
            "code" : "1390",
            "display" : "Night blindness-skeletal anomalies-dysmorphism syndrome"
          },
          {
            "code" : "1393",
            "display" : "Cerebrocostomandibular syndrome"
          },
          {
            "code" : "139396",
            "display" : "X-linked cerebral adrenoleukodystrophy"
          },
          {
            "code" : "139399",
            "display" : "Adrenomyeloneuropathy"
          },
          {
            "code" : "1394",
            "display" : "Cerebrofaciothoracic dysplasia"
          },
          {
            "code" : "139402",
            "display" : "Drug reaction with eosinophilia and systemic symptoms"
          },
          {
            "code" : "139406",
            "display" : "Encephalopathy due to prosaposin deficiency"
          },
          {
            "code" : "139411",
            "display" : "Carney triad"
          },
          {
            "code" : "139414",
            "display" : "Congenital panfollicular nevus"
          },
          {
            "code" : "139417",
            "display" : "Acute transverse myelitis"
          },
          {
            "code" : "139423",
            "display" : "Idiopathic acute transverse myelitis"
          },
          {
            "code" : "139426",
            "display" : "Perioral myoclonia with absences"
          },
          {
            "code" : "139431",
            "display" : "Jeavons syndrome"
          },
          {
            "code" : "139436",
            "display" : "Multicentric reticulohistiocytosis"
          },
          {
            "code" : "139441",
            "display" : "Hypomyelination with atrophy of basal ganglia and cerebellum"
          },
          {
            "code" : "139444",
            "display" : "Leukoencephalopathy with bilateral anterior temporal lobe cysts"
          },
          {
            "code" : "139447",
            "display" : "Progressive cavitating leukoencephalopathy"
          },
          {
            "code" : "139450",
            "display" : "Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome"
          },
          {
            "code" : "139455",
            "display" : "Autosomal recessive bestrophinopathy"
          },
          {
            "code" : "139466",
            "display" : "SERKAL syndrome"
          },
          {
            "code" : "139471",
            "display" : "Microphthalmia with brain and digit anomalies"
          },
          {
            "code" : "139474",
            "display" : "17q11.2 microduplication syndrome"
          },
          {
            "code" : "139480",
            "display" : "Autosomal recessive spastic paraplegia type 39"
          },
          {
            "code" : "139485",
            "display" : "Autosomal recessive ataxia due to ubiquinone deficiency"
          },
          {
            "code" : "139507",
            "display" : "Dietary iron overload disease"
          },
          {
            "code" : "139512",
            "display" : "Neuropathy with hearing impairment"
          },
          {
            "code" : "139515",
            "display" : "Charcot-Marie-Tooth disease type 4J"
          },
          {
            "code" : "139518",
            "display" : "Distal hereditary motor neuropathy type 1"
          },
          {
            "code" : "139525",
            "display" : "Distal hereditary motor neuropathy type 2"
          },
          {
            "code" : "139536",
            "display" : "Distal hereditary motor neuropathy type 5"
          },
          {
            "code" : "139547",
            "display" : "Distal spinal muscular atrophy type 3"
          },
          {
            "code" : "139552",
            "display" : "Distal hereditary motor neuropathy, Jerash type"
          },
          {
            "code" : "139557",
            "display" : "X-linked distal spinal muscular atrophy type 3"
          },
          {
            "code" : "139564",
            "display" : "Hereditary sensory and autonomic neuropathy type 1B"
          },
          {
            "code" : "139573",
            "display" : "Hereditary sensory and autonomic neuropathy with deafness and global delay"
          },
          {
            "code" : "139578",
            "display" : "Mutilating hereditary sensory neuropathy with spastic paraplegia"
          },
          {
            "code" : "139583",
            "display" : "X-linked hereditary sensory and autonomic neuropathy with deafness"
          },
          {
            "code" : "139589",
            "display" : "Distal hereditary motor neuropathy type 7"
          },
          {
            "code" : "1397",
            "display" : "Hydrocephaly-cerebellar agenesis syndrome"
          },
          {
            "code" : "1398",
            "display" : "Isolated cerebellar agenesis"
          },
          {
            "code" : "1399",
            "display" : "Richards-Rundle syndrome"
          },
          {
            "code" : "14",
            "display" : "Abetalipoproteinemia"
          },
          {
            "code" : "140",
            "display" : "Campomelic dysplasia"
          },
          {
            "code" : "1401",
            "display" : "CHAND syndrome"
          },
          {
            "code" : "140286",
            "display" : "Secondary hypoparathyroidism due to impaired parathormon secretion"
          },
          {
            "code" : "140436",
            "display" : "Primary intraosseous venous malformation"
          },
          {
            "code" : "140481",
            "display" : "Autosomal dominant slowed nerve conduction velocity"
          },
          {
            "code" : "1406",
            "display" : "Charlie M syndrome"
          },
          {
            "code" : "140896",
            "display" : "Severe acute respiratory syndrome"
          },
          {
            "code" : "140905",
            "display" : "Hyperlipidemia due to hepatic triacylglycerol lipase deficiency"
          },
          {
            "code" : "140908",
            "display" : "Brachydactyly type B2"
          },
          {
            "code" : "140917",
            "display" : "Stapes ankylosis with broad thumbs and toes"
          },
          {
            "code" : "140922",
            "display" : "Titin-related limb-girdle muscular dystrophy R10"
          },
          {
            "code" : "140927",
            "display" : "Benign familial neonatal-infantile seizures"
          },
          {
            "code" : "140933",
            "display" : "Linear atrophoderma of Moulin"
          },
          {
            "code" : "140936",
            "display" : "Lelis syndrome"
          },
          {
            "code" : "140941",
            "display" : "Short stature due to primary acid-labile subunit deficiency"
          },
          {
            "code" : "140944",
            "display" : "CLOVES syndrome"
          },
          {
            "code" : "140949",
            "display" : "Low-flow priapism"
          },
          {
            "code" : "140952",
            "display" : "Syndactyly-telecanthus-anogenital and renal malformations syndrome"
          },
          {
            "code" : "140957",
            "display" : "Autosomal dominant macrothrombocytopenia"
          },
          {
            "code" : "140963",
            "display" : "Bilateral microtia-deafness-cleft palate syndrome"
          },
          {
            "code" : "140966",
            "display" : "Palmoplantar keratoderma, Nagashima type"
          },
          {
            "code" : "140969",
            "display" : "Saldino-Mainzer syndrome"
          },
          {
            "code" : "140976",
            "display" : "RHYNS syndrome"
          },
          {
            "code" : "140989",
            "display" : "Primary angiitis of the central nervous system"
          },
          {
            "code" : "141",
            "display" : "Canavan disease"
          },
          {
            "code" : "1410",
            "display" : "Uncombable hair syndrome"
          },
          {
            "code" : "141000",
            "display" : "Orofaciodigital syndrome type 11"
          },
          {
            "code" : "141007",
            "display" : "Orofaciodigital syndrome type 9"
          },
          {
            "code" : "141013",
            "display" : "First branchial cleft anomaly"
          },
          {
            "code" : "141022",
            "display" : "Second branchial cleft anomaly"
          },
          {
            "code" : "141030",
            "display" : "Third branchial cleft anomaly"
          },
          {
            "code" : "141037",
            "display" : "Fourth branchial cleft anomaly"
          },
          {
            "code" : "141046",
            "display" : "Cervical dermoid cyst"
          },
          {
            "code" : "141051",
            "display" : "Facial dermoid cyst"
          },
          {
            "code" : "141061",
            "display" : "Commissural lip fistula"
          },
          {
            "code" : "141064",
            "display" : "Lower lip fistula"
          },
          {
            "code" : "141067",
            "display" : "Cervicofacial fibrochondroma"
          },
          {
            "code" : "141071",
            "display" : "Digestive duplication cyst of the tongue"
          },
          {
            "code" : "141074",
            "display" : "External auditory canal aplasia/hypoplasia"
          },
          {
            "code" : "141077",
            "display" : "Epignathus"
          },
          {
            "code" : "141083",
            "display" : "Nasolacrimal duct cyst"
          },
          {
            "code" : "141091",
            "display" : "Polyrrhinia"
          },
          {
            "code" : "141096",
            "display" : "Supernumerary nostril"
          },
          {
            "code" : "141099",
            "display" : "Proboscis lateralis"
          },
          {
            "code" : "141103",
            "display" : "Nasal dermoid cyst"
          },
          {
            "code" : "141107",
            "display" : "Nasopharyngeal teratoma"
          },
          {
            "code" : "141112",
            "display" : "Nasal glial heterotopia"
          },
          {
            "code" : "141115",
            "display" : "Nasal ganglioglioma"
          },
          {
            "code" : "141118",
            "display" : "Nasal encephalocele"
          },
          {
            "code" : "141121",
            "display" : "Congenital subglottic stenosis"
          },
          {
            "code" : "141124",
            "display" : "Congenital laryngeal cyst"
          },
          {
            "code" : "141127",
            "display" : "Congenital tracheal stenosis"
          },
          {
            "code" : "141132",
            "display" : "Oculo-auriculo-vertebral spectrum"
          },
          {
            "code" : "141145",
            "display" : "Hemifacial hyperplasia"
          },
          {
            "code" : "141148",
            "display" : "Hemifacial myohyperplasia"
          },
          {
            "code" : "141152",
            "display" : "Isolated congenital hypoglossia/aglossia"
          },
          {
            "code" : "141163",
            "display" : "Glossopalatine ankylosis"
          },
          {
            "code" : "141168",
            "display" : "Frontonasal arteriovenous malformation"
          },
          {
            "code" : "141171",
            "display" : "Maxillary arteriovenous malformation"
          },
          {
            "code" : "141174",
            "display" : "Mandibular arteriovenous malformation"
          },
          {
            "code" : "141179",
            "display" : "Non-involuting congenital hemangioma"
          },
          {
            "code" : "141184",
            "display" : "Rapidly involuting congenital hemangioma"
          },
          {
            "code" : "141194",
            "display" : "Cerebrofacial arteriovenous metameric syndrome type 1"
          },
          {
            "code" : "141199",
            "display" : "Cerebrofacial arteriovenous metameric syndrome type 3"
          },
          {
            "code" : "1412",
            "display" : "Tarsal-carpal coalition syndrome"
          },
          {
            "code" : "141209",
            "display" : "Diffuse lymphatic malformation"
          },
          {
            "code" : "141214",
            "display" : "Isolated congenital syngnathia"
          },
          {
            "code" : "141219",
            "display" : "Nasal dorsum fistula"
          },
          {
            "code" : "141239",
            "display" : "Median cleft of the upper lip and maxilla"
          },
          {
            "code" : "141242",
            "display" : "Paramedian nasal cleft"
          },
          {
            "code" : "141258",
            "display" : "Tessier number 4 facial cleft"
          },
          {
            "code" : "141261",
            "display" : "Tessier number 5 facial cleft"
          },
          {
            "code" : "141265",
            "display" : "Tessier number 6 facial cleft"
          },
          {
            "code" : "141276",
            "display" : "Tessier number 7 facial cleft"
          },
          {
            "code" : "141288",
            "display" : "Midline cervical cleft"
          },
          {
            "code" : "141291",
            "display" : "Cleft lip and alveolus"
          },
          {
            "code" : "141327",
            "display" : "Orofaciodigital syndrome type 12"
          },
          {
            "code" : "141330",
            "display" : "Orofaciodigital syndrome type 13"
          },
          {
            "code" : "141333",
            "display" : "Biemond syndrome type 2"
          },
          {
            "code" : "1414",
            "display" : "Cholestasis-lymphedema syndrome"
          },
          {
            "code" : "1415",
            "display" : "Cholestasis-pigmentary retinopathy-cleft palate syndrome"
          },
          {
            "code" : "1416",
            "display" : "Familial calcium pyrophosphate deposition"
          },
          {
            "code" : "142",
            "display" : "Anaplastic thyroid carcinoma"
          },
          {
            "code" : "1422",
            "display" : "Chondrodysplasia-difference of sex development syndrome"
          },
          {
            "code" : "1423",
            "display" : "Lethal recessive chondrodysplasia"
          },
          {
            "code" : "1425",
            "display" : "Desbuquois syndrome"
          },
          {
            "code" : "1426",
            "display" : "Greenberg dysplasia"
          },
          {
            "code" : "1427",
            "display" : "Otospondylomegaepiphyseal dysplasia"
          },
          {
            "code" : "1429",
            "display" : "Benign hereditary chorea"
          },
          {
            "code" : "143",
            "display" : "Parathyroid carcinoma"
          },
          {
            "code" : "1433",
            "display" : "Choroidal atrophy-alopecia syndrome"
          },
          {
            "code" : "1435",
            "display" : "Xq21 microdeletion syndrome"
          },
          {
            "code" : "1436",
            "display" : "X-linked skeletal dysplasia-intellectual disability syndrome"
          },
          {
            "code" : "1437",
            "display" : "Ring chromosome 1 syndrome"
          },
          {
            "code" : "1438",
            "display" : "Ring chromosome 10 syndrome"
          },
          {
            "code" : "1439",
            "display" : "Ring chromosome 12 syndrome"
          },
          {
            "code" : "144",
            "display" : "Lynch syndrome"
          },
          {
            "code" : "1440",
            "display" : "Ring chromosome 14 syndrome"
          },
          {
            "code" : "1441",
            "display" : "Ring chromosome 17 syndrome"
          },
          {
            "code" : "1442",
            "display" : "Ring chromosome 18 syndrome"
          },
          {
            "code" : "1443",
            "display" : "Ring chromosome 19 syndrome"
          },
          {
            "code" : "1444",
            "display" : "Ring chromosome 20 syndrome"
          },
          {
            "code" : "1445",
            "display" : "Ring chromosome 21 syndrome"
          },
          {
            "code" : "1446",
            "display" : "Ring chromosome 22 syndrome"
          },
          {
            "code" : "1447",
            "display" : "Ring chromosome 4 syndrome"
          },
          {
            "code" : "1448",
            "display" : "Ring chromosome 6 syndrome"
          },
          {
            "code" : "1449",
            "display" : "Ring chromosome 7 syndrome"
          },
          {
            "code" : "145",
            "display" : "Hereditary breast and/or ovarian cancer syndrome"
          },
          {
            "code" : "1450",
            "display" : "Ring chromosome 8 syndrome"
          },
          {
            "code" : "1451",
            "display" : "CINCA syndrome"
          },
          {
            "code" : "1452",
            "display" : "Cleidocranial dysplasia"
          },
          {
            "code" : "1453",
            "display" : "Cleidorhizomelic syndrome"
          },
          {
            "code" : "1454",
            "display" : "Joubert syndrome with hepatic defect"
          },
          {
            "code" : "1455",
            "display" : "Autosomal dominant coarctation of aorta"
          },
          {
            "code" : "1456",
            "display" : "Atypical coarctation of aorta"
          },
          {
            "code" : "1457",
            "display" : "Aorta coarctation"
          },
          {
            "code" : "1458",
            "display" : "CODAS syndrome"
          },
          {
            "code" : "1459",
            "display" : "Celiac disease-epilepsy-cerebral calcification syndrome"
          },
          {
            "code" : "146",
            "display" : "Differentiated thyroid carcinoma"
          },
          {
            "code" : "1460",
            "display" : "Isolated complex III deficiency"
          },
          {
            "code" : "1461",
            "display" : "Criss-cross heart"
          },
          {
            "code" : "1464",
            "display" : "Univentricular heart"
          },
          {
            "code" : "1465",
            "display" : "Coffin-Siris syndrome"
          },
          {
            "code" : "1466",
            "display" : "COFS syndrome"
          },
          {
            "code" : "1467",
            "display" : "Cogan syndrome"
          },
          {
            "code" : "147",
            "display" : "Carbamoyl-phosphate synthetase 1 deficiency"
          },
          {
            "code" : "1471",
            "display" : "Coloboma of macula-brachydactyly type B syndrome"
          },
          {
            "code" : "1473",
            "display" : "Uveal coloboma-cleft lip and palate-intellectual disability"
          },
          {
            "code" : "1475",
            "display" : "Renal coloboma syndrome"
          },
          {
            "code" : "1478",
            "display" : "Interatrial communication"
          },
          {
            "code" : "1479",
            "display" : "Atrial septal defect-atrioventricular conduction defects syndrome"
          },
          {
            "code" : "1482",
            "display" : "Gonococcal conjunctivitis"
          },
          {
            "code" : "1484",
            "display" : "Contractures-ectodermal dysplasia-cleft lip/palate syndrome"
          },
          {
            "code" : "1485",
            "display" : "Arthrogryposis-hyperkeratosis syndrome, lethal form"
          },
          {
            "code" : "1486",
            "display" : "Lethal congenital contracture syndrome type 1"
          },
          {
            "code" : "1487",
            "display" : "Cooks syndrome"
          },
          {
            "code" : "1488",
            "display" : "Cooper-Jabs syndrome"
          },
          {
            "code" : "1489",
            "display" : "Whooping cough"
          },
          {
            "code" : "1490",
            "display" : "Corneal dystrophy-perceptive deafness syndrome"
          },
          {
            "code" : "1493",
            "display" : "Vici syndrome"
          },
          {
            "code" : "1495",
            "display" : "Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome"
          },
          {
            "code" : "1496",
            "display" : "Corpus callosum agenesis-neuronopathy syndrome"
          },
          {
            "code" : "1497",
            "display" : "X-linked complicated corpus callosum dysgenesis"
          },
          {
            "code" : "15",
            "display" : "Achondroplasia"
          },
          {
            "code" : "150",
            "display" : "Nasopharyngeal carcinoma"
          },
          {
            "code" : "1501",
            "display" : "Adrenocortical carcinoma"
          },
          {
            "code" : "1506",
            "display" : "Thin ribs-tubular bones-dysmorphism syndrome"
          },
          {
            "code" : "1507",
            "display" : "Autosomal recessive Robinow syndrome"
          },
          {
            "code" : "1508",
            "display" : "Coxoauricular syndrome"
          },
          {
            "code" : "1509",
            "display" : "Coxopodopatellar syndrome"
          },
          {
            "code" : "1512",
            "display" : "Crane-Heise syndrome"
          },
          {
            "code" : "1513",
            "display" : "Craniodiaphyseal dysplasia"
          },
          {
            "code" : "1514",
            "display" : "Craniodigital-intellectual disability syndrome"
          },
          {
            "code" : "1515",
            "display" : "Cranioectodermal dysplasia"
          },
          {
            "code" : "1516",
            "display" : "Non-syndromic bilambdoid and sagittal craniosynostosis"
          },
          {
            "code" : "1517",
            "display" : "Cantú syndrome"
          },
          {
            "code" : "1519",
            "display" : "SPECC1L-related hypertelorism syndrome"
          },
          {
            "code" : "1520",
            "display" : "Craniofrontonasal dysplasia"
          },
          {
            "code" : "1521",
            "display" : "Craniofrontonasal dysplasia-Poland anomaly syndrome"
          },
          {
            "code" : "1522",
            "display" : "Craniometaphyseal dysplasia"
          },
          {
            "code" : "1524",
            "display" : "Craniomicromelic syndrome"
          },
          {
            "code" : "1525",
            "display" : "Cranio-osteoarthropathy"
          },
          {
            "code" : "1527",
            "display" : "Craniosynostosis, Philadelphia type"
          },
          {
            "code" : "1528",
            "display" : "Craniotelencephalic dysplasia"
          },
          {
            "code" : "1529",
            "display" : "Craniofacial-deafness-hand syndrome"
          },
          {
            "code" : "1532",
            "display" : "Gómez-López-Hernández syndrome"
          },
          {
            "code" : "1538",
            "display" : "Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome"
          },
          {
            "code" : "154",
            "display" : "Familial isolated dilated cardiomyopathy"
          },
          {
            "code" : "1540",
            "display" : "Jackson-Weiss syndrome"
          },
          {
            "code" : "1541",
            "display" : "Craniosynostosis, Boston type"
          },
          {
            "code" : "1544",
            "display" : "Benign focal seizures of adolescence"
          },
          {
            "code" : "1545",
            "display" : "Crisponi syndrome"
          },
          {
            "code" : "1546",
            "display" : "Cryptococcosis"
          },
          {
            "code" : "1547",
            "display" : "Cryptomicrotia-brachydactyly-excess fingertip arch syndrome"
          },
          {
            "code" : "1548",
            "display" : "Cryptorchidism-arachnodactyly-intellectual disability syndrome"
          },
          {
            "code" : "1551",
            "display" : "Familial benign copper deficiency"
          },
          {
            "code" : "1552",
            "display" : "Currarino syndrome"
          },
          {
            "code" : "1553",
            "display" : "Curry-Jones syndrome"
          },
          {
            "code" : "1555",
            "display" : "Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome"
          },
          {
            "code" : "1556",
            "display" : "Cutis marmorata telangiectatica congenita"
          },
          {
            "code" : "155838",
            "display" : "Pinnae fistula or cyst"
          },
          {
            "code" : "155878",
            "display" : "Submucosal cleft palate"
          },
          {
            "code" : "155884",
            "display" : "Coloboma of superior eyelid"
          },
          {
            "code" : "155889",
            "display" : "Coloboma of inferior eyelid"
          },
          {
            "code" : "156",
            "display" : "Carnitine palmitoyl transferase 1A deficiency"
          },
          {
            "code" : "1560",
            "display" : "Cysticercosis"
          },
          {
            "code" : "1561",
            "display" : "Fatal infantile cytochrome C oxidase deficiency"
          },
          {
            "code" : "1562",
            "display" : "Dacryocystitis-osteopoikilosis syndrome"
          },
          {
            "code" : "1563",
            "display" : "Dahlberg-Borer-Newcomer syndrome"
          },
          {
            "code" : "1566",
            "display" : "Dandy-Walker malformation-postaxial polydactyly syndrome"
          },
          {
            "code" : "156728",
            "display" : "Spondyloepimetaphyseal dysplasia, matrilin-3 type"
          },
          {
            "code" : "156731",
            "display" : "Dyssegmental dysplasia, Rolland-Desbuquois type"
          },
          {
            "code" : "1568",
            "display" : "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome"
          },
          {
            "code" : "157",
            "display" : "Carnitine palmitoyltransferase II deficiency"
          },
          {
            "code" : "1570",
            "display" : "Symbrachydactyly of hands and feet"
          },
          {
            "code" : "1571",
            "display" : "Knobloch syndrome"
          },
          {
            "code" : "1572",
            "display" : "Common variable immunodeficiency"
          },
          {
            "code" : "157215",
            "display" : "Hereditary hypophosphatemic rickets with hypercalciuria"
          },
          {
            "code" : "1573",
            "display" : "Hypotrichosis with juvenile macular degeneration"
          },
          {
            "code" : "1574",
            "display" : "Retinal degeneration-nanophthalmos-glaucoma syndrome"
          },
          {
            "code" : "157713",
            "display" : "Congenital or early infantile CACH syndrome"
          },
          {
            "code" : "157716",
            "display" : "Late infantile CACH syndrome"
          },
          {
            "code" : "157719",
            "display" : "Juvenile or adult CACH syndrome"
          },
          {
            "code" : "157769",
            "display" : "Situs ambiguus"
          },
          {
            "code" : "157791",
            "display" : "Epithelioid hemangioendothelioma"
          },
          {
            "code" : "157794",
            "display" : "Hereditary mixed polyposis syndrome"
          },
          {
            "code" : "157798",
            "display" : "Serrated polyposis syndrome"
          },
          {
            "code" : "1578",
            "display" : "Pterin-4 alpha-carbinolamine dehydratase deficiency"
          },
          {
            "code" : "157801",
            "display" : "Mesoaxial synostotic syndactyly with phalangeal reduction"
          },
          {
            "code" : "157808",
            "display" : "Congenital pseudoarthrosis of the limbs"
          },
          {
            "code" : "157820",
            "display" : "Cold-induced sweating syndrome"
          },
          {
            "code" : "157823",
            "display" : "Klüver-Bucy syndrome"
          },
          {
            "code" : "157826",
            "display" : "Congenital epulis"
          },
          {
            "code" : "157832",
            "display" : "Craniorhiny"
          },
          {
            "code" : "157835",
            "display" : "Paroxysmal hemicrania"
          },
          {
            "code" : "157846",
            "display" : "Neuroferritinopathy"
          },
          {
            "code" : "157850",
            "display" : "Pantothenate kinase-associated neurodegeneration"
          },
          {
            "code" : "157941",
            "display" : "Huntington disease-like 1"
          },
          {
            "code" : "157946",
            "display" : "Huntington disease-like 3"
          },
          {
            "code" : "157949",
            "display" : "Combined immunodeficiency with granulomatosis"
          },
          {
            "code" : "157954",
            "display" : "ANE syndrome"
          },
          {
            "code" : "157962",
            "display" : "Oculoauricular syndrome, Schorderet type"
          },
          {
            "code" : "157965",
            "display" : "SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome"
          },
          {
            "code" : "157973",
            "display" : "Congenital muscular dystrophy due to LMNA mutation"
          },
          {
            "code" : "157991",
            "display" : "Generalized eruptive histiocytosis"
          },
          {
            "code" : "157997",
            "display" : "Benign cephalic histiocytosis"
          },
          {
            "code" : "158",
            "display" : "Systemic primary carnitine deficiency"
          },
          {
            "code" : "1580",
            "display" : "Distal deletion 10p"
          },
          {
            "code" : "158000",
            "display" : "Juvenile xanthogranuloma"
          },
          {
            "code" : "158003",
            "display" : "Xanthoma disseminatum"
          },
          {
            "code" : "158008",
            "display" : "Papular xanthoma"
          },
          {
            "code" : "158011",
            "display" : "Necrobiotic xanthogranuloma"
          },
          {
            "code" : "158014",
            "display" : "Rosaï-Dorfman disease"
          },
          {
            "code" : "158019",
            "display" : "Indeterminate cell histiocytosis"
          },
          {
            "code" : "158022",
            "display" : "Progressive nodular histiocytosis"
          },
          {
            "code" : "158025",
            "display" : "Hereditary progressive mucinous histiocytosis"
          },
          {
            "code" : "158029",
            "display" : "Sea-blue histiocytosis"
          },
          {
            "code" : "158048",
            "display" : "Hemophagocytic syndrome associated with an infection"
          },
          {
            "code" : "158057",
            "display" : "Acquired hemophagocytic lymphohistiocytosis associated with malignant disease"
          },
          {
            "code" : "158061",
            "display" : "Macrophage activation syndrome"
          },
          {
            "code" : "1581",
            "display" : "Non-distal deletion 10q"
          },
          {
            "code" : "158668",
            "display" : "Ectodermal dysplasia-skin fragility syndrome"
          },
          {
            "code" : "158673",
            "display" : "Localized dystrophic epidermolysis bullosa, acral form"
          },
          {
            "code" : "158676",
            "display" : "Localized dystrophic epidermolysis bullosa, nails only"
          },
          {
            "code" : "158681",
            "display" : "Epidermolysis bullosa simplex with circinate migratory erythema"
          },
          {
            "code" : "158684",
            "display" : "Epidermolysis bullosa simplex with pyloric atresia"
          },
          {
            "code" : "158687",
            "display" : "Lethal acantholytic erosive disorder"
          },
          {
            "code" : "1587",
            "display" : "Monosomy 13q14"
          },
          {
            "code" : "158766",
            "display" : "Typical urticaria pigmentosa"
          },
          {
            "code" : "158769",
            "display" : "Plaque-form urticaria pigmentosa"
          },
          {
            "code" : "158772",
            "display" : "Nodular urticaria pigmentosa"
          },
          {
            "code" : "158775",
            "display" : "Smoldering systemic mastocytosis"
          },
          {
            "code" : "158778",
            "display" : "Isolated bone marrow mastocytosis"
          },
          {
            "code" : "159",
            "display" : "Carnitine-acylcarnitine translocase deficiency"
          },
          {
            "code" : "1590",
            "display" : "Distal deletion 13q"
          },
          {
            "code" : "1596",
            "display" : "Distal deletion 15q"
          },
          {
            "code" : "1597",
            "display" : "Distal deletion 17q"
          },
          {
            "code" : "1598",
            "display" : "Monosomy 18p"
          },
          {
            "code" : "16",
            "display" : "Blue cone monochromatism"
          },
          {
            "code" : "160",
            "display" : "Castleman disease"
          },
          {
            "code" : "1600",
            "display" : "Monosomy 18q"
          },
          {
            "code" : "160148",
            "display" : "Cap polyposis"
          },
          {
            "code" : "1606",
            "display" : "1p36 deletion syndrome"
          },
          {
            "code" : "1617",
            "display" : "2q24 microdeletion syndrome"
          },
          {
            "code" : "162",
            "display" : "Cataract-glaucoma syndrome"
          },
          {
            "code" : "1620",
            "display" : "Distal deletion 3p"
          },
          {
            "code" : "1621",
            "display" : "3q13 microdeletion syndrome"
          },
          {
            "code" : "162516",
            "display" : "Isolated congenital nasal pyriform aperture stenosis"
          },
          {
            "code" : "162526",
            "display" : "Isolated congenital auditory ossicle malformation"
          },
          {
            "code" : "1627",
            "display" : "Deletion 5q35"
          },
          {
            "code" : "163",
            "display" : "Hereditary hyperferritinemia-cataract syndrome"
          },
          {
            "code" : "163525",
            "display" : "Subacute cutaneous lupus erythematosus"
          },
          {
            "code" : "163596",
            "display" : "Hb Bart's hydrops fetalis"
          },
          {
            "code" : "1636",
            "display" : "Distal monosomy 7q36"
          },
          {
            "code" : "163634",
            "display" : "Maffucci syndrome"
          },
          {
            "code" : "163649",
            "display" : "Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome"
          },
          {
            "code" : "163654",
            "display" : "Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome"
          },
          {
            "code" : "163662",
            "display" : "Spondyloepiphyseal dysplasia, Reardon type"
          },
          {
            "code" : "163665",
            "display" : "Spondyloepiphyseal dysplasia tarda, Kohn type"
          },
          {
            "code" : "163668",
            "display" : "Spondyloepiphyseal dysplasia, MacDermot type"
          },
          {
            "code" : "163681",
            "display" : "CNTNAP2-related developmental and epileptic encephalopathy"
          },
          {
            "code" : "163684",
            "display" : "Leukoencephalopathy-dystonia-motor neuropathy syndrome"
          },
          {
            "code" : "163690",
            "display" : "Hypotonia-cystinuria syndrome"
          },
          {
            "code" : "163693",
            "display" : "2p21 microdeletion syndrome"
          },
          {
            "code" : "163696",
            "display" : "Action myoclonus-renal failure syndrome"
          },
          {
            "code" : "163699",
            "display" : "Alveolar soft tissue sarcoma"
          },
          {
            "code" : "163703",
            "display" : "Febrile infection-related epilepsy syndrome"
          },
          {
            "code" : "163708",
            "display" : "Cryptogenic late-onset epileptic spasms"
          },
          {
            "code" : "163717",
            "display" : "Benign familial mesial temporal lobe epilepsy"
          },
          {
            "code" : "163721",
            "display" : "Rolandic epilepsy-speech dyspraxia syndrome"
          },
          {
            "code" : "163727",
            "display" : "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome"
          },
          {
            "code" : "163746",
            "display" : "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease"
          },
          {
            "code" : "163921",
            "display" : "Posttransplant acute limbic encephalitis"
          },
          {
            "code" : "163927",
            "display" : "Pustulosis palmaris et plantaris"
          },
          {
            "code" : "163931",
            "display" : "Acrodermatitis continua of Hallopeau"
          },
          {
            "code" : "163934",
            "display" : "Atopic keratoconjunctivitis"
          },
          {
            "code" : "163937",
            "display" : "X-linked intellectual disability, Najm type"
          },
          {
            "code" : "163956",
            "display" : "X-linked intellectual disability, Nascimento type"
          },
          {
            "code" : "163961",
            "display" : "X-linked cerebral-cerebellar-coloboma syndrome"
          },
          {
            "code" : "163966",
            "display" : "X-linked dominant chondrodysplasia, Chassaing-Lacombe type"
          },
          {
            "code" : "163971",
            "display" : "X-linked intellectual disability, Cilliers type"
          },
          {
            "code" : "163976",
            "display" : "X-linked intellectual disability, Van Esch type"
          },
          {
            "code" : "163979",
            "display" : "X-linked intellectual disability-craniofacioskeletal syndrome"
          },
          {
            "code" : "163985",
            "display" : "Hyperekplexia-epilepsy syndrome"
          },
          {
            "code" : "1642",
            "display" : "Distal deletion 9p"
          },
          {
            "code" : "1643",
            "display" : "Xp22.3 microdeletion syndrome"
          },
          {
            "code" : "1646",
            "display" : "Partial chromosome Y deletion"
          },
          {
            "code" : "1647",
            "display" : "Oculocerebrocutaneous syndrome"
          },
          {
            "code" : "164726",
            "display" : "Acute myeloid leukemia and myelodysplastic syndromes related to radiation"
          },
          {
            "code" : "164736",
            "display" : "Familial advanced sleep-phase syndrome"
          },
          {
            "code" : "1652",
            "display" : "Dent disease"
          },
          {
            "code" : "1653",
            "display" : "Dentin dysplasia"
          },
          {
            "code" : "1655",
            "display" : "Müllerian derivatives-lymphangiectasia-polydactyly syndrome"
          },
          {
            "code" : "1656",
            "display" : "Dermatitis herpetiformis"
          },
          {
            "code" : "1657",
            "display" : "Dermatoosteolysis, Kirghizian type"
          },
          {
            "code" : "1658",
            "display" : "Absence of fingerprints-congenital milia syndrome"
          },
          {
            "code" : "165805",
            "display" : "Familial mesial temporal lobe epilepsy with febrile seizures"
          },
          {
            "code" : "1659",
            "display" : "Dermatoleukodystrophy"
          },
          {
            "code" : "165955",
            "display" : "Wound myiasis"
          },
          {
            "code" : "165958",
            "display" : "Cavitary myiasis"
          },
          {
            "code" : "165991",
            "display" : "Exercise-induced hyperinsulinism"
          },
          {
            "code" : "1660",
            "display" : "Dermoodontodysplasia"
          },
          {
            "code" : "166002",
            "display" : "Multiple epiphyseal dysplasia due to collagen 9 anomaly"
          },
          {
            "code" : "166011",
            "display" : "Multiple epiphyseal dysplasia, Beighton type"
          },
          {
            "code" : "166016",
            "display" : "Multiple epiphyseal dysplasia, Lowry type"
          },
          {
            "code" : "166024",
            "display" : "Multiple epiphyseal dysplasia, Al-Gazali type"
          },
          {
            "code" : "166029",
            "display" : "Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia"
          },
          {
            "code" : "166032",
            "display" : "Multiple epiphyseal dysplasia, with miniepiphyses"
          },
          {
            "code" : "166035",
            "display" : "Brachydactyly-short stature-retinitis pigmentosa syndrome"
          },
          {
            "code" : "166038",
            "display" : "Metaphyseal chondrodysplasia, Kaitila type"
          },
          {
            "code" : "166063",
            "display" : "Pontocerebellar hypoplasia type 4"
          },
          {
            "code" : "166073",
            "display" : "Pontocerebellar hypoplasia type 6"
          },
          {
            "code" : "166078",
            "display" : "Von Willebrand disease type 1"
          },
          {
            "code" : "166081",
            "display" : "Von Willebrand disease type 2"
          },
          {
            "code" : "166084",
            "display" : "Von Willebrand disease type 2A"
          },
          {
            "code" : "166087",
            "display" : "Von Willebrand disease type 2B"
          },
          {
            "code" : "166090",
            "display" : "Von Willebrand disease type 2M"
          },
          {
            "code" : "166093",
            "display" : "Von Willebrand disease type 2N"
          },
          {
            "code" : "166096",
            "display" : "Von Willebrand disease type 3"
          },
          {
            "code" : "1661",
            "display" : "X-linked corneal dermoid"
          },
          {
            "code" : "166100",
            "display" : "Autosomal dominant otospondylomegaepiphyseal dysplasia"
          },
          {
            "code" : "166105",
            "display" : "FASTKD2-related infantile mitochondrial encephalomyopathy"
          },
          {
            "code" : "166108",
            "display" : "Intellectual disability, Birk-Barel type"
          },
          {
            "code" : "166113",
            "display" : "Bazex syndrome"
          },
          {
            "code" : "166119",
            "display" : "Isolated osteopoikilosis"
          },
          {
            "code" : "1662",
            "display" : "Restrictive dermopathy"
          },
          {
            "code" : "166260",
            "display" : "Dentinogenesis imperfecta type 2"
          },
          {
            "code" : "166265",
            "display" : "Dentinogenesis imperfecta type 3"
          },
          {
            "code" : "166272",
            "display" : "Odontochondrodysplasia"
          },
          {
            "code" : "166277",
            "display" : "Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia"
          },
          {
            "code" : "166282",
            "display" : "Familial sick sinus syndrome"
          },
          {
            "code" : "166286",
            "display" : "Porokeratotic eccrine ostial and dermal duct nevus"
          },
          {
            "code" : "166291",
            "display" : "Dirofilariasis"
          },
          {
            "code" : "166299",
            "display" : "Benign partial epilepsy of infancy with complex partial seizures"
          },
          {
            "code" : "166302",
            "display" : "Benign partial epilepsy with secondarily generalized seizures in infancy"
          },
          {
            "code" : "166305",
            "display" : "Benign infantile seizures associated with mild gastroenteritis"
          },
          {
            "code" : "166308",
            "display" : "Benign infantile focal epilepsy with midline spikes and waves during sleep"
          },
          {
            "code" : "166409",
            "display" : "Photosensitive epilepsy"
          },
          {
            "code" : "166412",
            "display" : "Hot water reflex epilepsy"
          },
          {
            "code" : "166415",
            "display" : "Audiogenic seizures"
          },
          {
            "code" : "166418",
            "display" : "Eating reflex epilepsy"
          },
          {
            "code" : "166421",
            "display" : "Orgasm-induced seizures"
          },
          {
            "code" : "166424",
            "display" : "Thinking seizures"
          },
          {
            "code" : "166427",
            "display" : "Startle epilepsy"
          },
          {
            "code" : "166430",
            "display" : "Micturation-induced seizures"
          },
          {
            "code" : "166433",
            "display" : "Reading seizures"
          },
          {
            "code" : "1665",
            "display" : "Sporadic fetal brain disruption sequence"
          },
          {
            "code" : "1666",
            "display" : "Dextrocardia"
          },
          {
            "code" : "1667",
            "display" : "Wolcott-Rallison syndrome"
          },
          {
            "code" : "167",
            "display" : "Chédiak-Higashi syndrome"
          },
          {
            "code" : "1670",
            "display" : "Chronic diarrhea with villous atrophy"
          },
          {
            "code" : "1671",
            "display" : "Split cord malformation type I"
          },
          {
            "code" : "1672",
            "display" : "Diencephalic syndrome"
          },
          {
            "code" : "1675",
            "display" : "Dihydropyrimidine dehydrogenase deficiency"
          },
          {
            "code" : "1676",
            "display" : "Idiopathic pulmonary artery dilatation"
          },
          {
            "code" : "167635",
            "display" : "Scleromyxedema"
          },
          {
            "code" : "1677",
            "display" : "Familial idiopathic dilatation of the right atrium"
          },
          {
            "code" : "1679",
            "display" : "Diphtheria"
          },
          {
            "code" : "168",
            "display" : "Loose anagen syndrome"
          },
          {
            "code" : "1681",
            "display" : "Diprosopus"
          },
          {
            "code" : "1682",
            "display" : "Arterial dissection-lentiginosis syndrome"
          },
          {
            "code" : "168443",
            "display" : "Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome"
          },
          {
            "code" : "168451",
            "display" : "Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome"
          },
          {
            "code" : "168454",
            "display" : "Spondyloepimetaphyseal dysplasia, Geneviève type"
          },
          {
            "code" : "168486",
            "display" : "Congenital neuronal ceroid lipofuscinosis"
          },
          {
            "code" : "168491",
            "display" : "Late infantile neuronal ceroid lipofuscinosis"
          },
          {
            "code" : "1685",
            "display" : "Distomatosis"
          },
          {
            "code" : "168544",
            "display" : "Spondylometaphyseal dysplasia, Golden type"
          },
          {
            "code" : "168549",
            "display" : "Axial spondylometaphyseal dysplasia"
          },
          {
            "code" : "168552",
            "display" : "Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome"
          },
          {
            "code" : "168555",
            "display" : "Spondylometaphyseal dysplasia, A4 type"
          },
          {
            "code" : "168558",
            "display" : "46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency"
          },
          {
            "code" : "168563",
            "display" : "46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"
          },
          {
            "code" : "168566",
            "display" : "Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3"
          },
          {
            "code" : "168569",
            "display" : "H syndrome"
          },
          {
            "code" : "168572",
            "display" : "Native American myopathy"
          },
          {
            "code" : "168577",
            "display" : "Hereditary cryohydrocytosis with reduced stomatin"
          },
          {
            "code" : "168583",
            "display" : "Hereditary North American Indian childhood cirrhosis"
          },
          {
            "code" : "168588",
            "display" : "Hyperandrogenism due to cortisone reductase deficiency"
          },
          {
            "code" : "168593",
            "display" : "Sudden infant death-dysgenesis of the testes syndrome"
          },
          {
            "code" : "168598",
            "display" : "Methionine adenosyltransferase I/III deficiency"
          },
          {
            "code" : "1686",
            "display" : "Cardiac diverticulum"
          },
          {
            "code" : "168601",
            "display" : "Congenital enteropathy due to enteropeptidase deficiency"
          },
          {
            "code" : "168606",
            "display" : "Seborrhea-like dermatitis with psoriasiform elements"
          },
          {
            "code" : "168612",
            "display" : "Congenital deficiency in alpha-fetoprotein"
          },
          {
            "code" : "168615",
            "display" : "Hereditary persistence of alpha-fetoprotein"
          },
          {
            "code" : "168621",
            "display" : "Dysplasia of head of femur, Meyer type"
          },
          {
            "code" : "168624",
            "display" : "Familial scaphocephaly syndrome, McGillivray type"
          },
          {
            "code" : "168629",
            "display" : "Autosomal thrombocytopenia with normal platelets"
          },
          {
            "code" : "168632",
            "display" : "Generalized basaloid follicular hamartoma syndrome"
          },
          {
            "code" : "168782",
            "display" : "Childhood disintegrative disorder"
          },
          {
            "code" : "168796",
            "display" : "Heart-hand syndrome, Slovenian type"
          },
          {
            "code" : "168811",
            "display" : "Malignant peritoneal mesothelioma"
          },
          {
            "code" : "168816",
            "display" : "Peritoneal cystic mesothelioma"
          },
          {
            "code" : "168829",
            "display" : "Primary peritoneal carcinoma"
          },
          {
            "code" : "168940",
            "display" : "Chronic eosinophilic leukemia"
          },
          {
            "code" : "168947",
            "display" : "Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement"
          },
          {
            "code" : "168950",
            "display" : "Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement"
          },
          {
            "code" : "168953",
            "display" : "Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement"
          },
          {
            "code" : "168960",
            "display" : "Refractory anemia with excess blasts in transformation"
          },
          {
            "code" : "168966",
            "display" : "Composite lymphoma"
          },
          {
            "code" : "168984",
            "display" : "CLAPO syndrome"
          },
          {
            "code" : "168999",
            "display" : "Malignant melanoma of the mucosa"
          },
          {
            "code" : "169",
            "display" : "Ringed hair disease"
          },
          {
            "code" : "169079",
            "display" : "Cernunnos-XLF deficiency"
          },
          {
            "code" : "169082",
            "display" : "Combined immunodeficiency due to CD3gamma deficiency"
          },
          {
            "code" : "169085",
            "display" : "Susceptibility to respiratory infections associated with CD8alpha chain mutation"
          },
          {
            "code" : "169090",
            "display" : "Combined immunodeficiency due to CRAC channel dysfunction"
          },
          {
            "code" : "169095",
            "display" : "Severe combined immunodeficiency due to FOXN1 deficiency"
          },
          {
            "code" : "169100",
            "display" : "Immunodeficiency due to CD25 deficiency"
          },
          {
            "code" : "169105",
            "display" : "Good syndrome"
          },
          {
            "code" : "169110",
            "display" : "Immunoglobulin heavy chain deficiency"
          },
          {
            "code" : "169139",
            "display" : "Transient hypogammaglobulinemia of infancy"
          },
          {
            "code" : "169142",
            "display" : "Recurrent infection due to specific granule deficiency"
          },
          {
            "code" : "169147",
            "display" : "Immunodeficiency due to a classical component pathway complement deficiency"
          },
          {
            "code" : "169150",
            "display" : "Immunodeficiency due to a late component of complement deficiency"
          },
          {
            "code" : "169154",
            "display" : "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency"
          },
          {
            "code" : "169157",
            "display" : "T-B+ severe combined immunodeficiency due to CD45 deficiency"
          },
          {
            "code" : "169160",
            "display" : "T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"
          },
          {
            "code" : "169186",
            "display" : "Autosomal recessive centronuclear myopathy"
          },
          {
            "code" : "169189",
            "display" : "Autosomal dominant centronuclear myopathy"
          },
          {
            "code" : "1692",
            "display" : "Mosaic trisomy 1"
          },
          {
            "code" : "169464",
            "display" : "Primary CD59 deficiency"
          },
          {
            "code" : "169467",
            "display" : "Recurrent Neisseria infections due to factor D deficiency"
          },
          {
            "code" : "1695",
            "display" : "Non-distal duplication 10q"
          },
          {
            "code" : "169793",
            "display" : "Severe hemophilia B"
          },
          {
            "code" : "169796",
            "display" : "Moderate hemophilia B"
          },
          {
            "code" : "169799",
            "display" : "Mild hemophilia B"
          },
          {
            "code" : "1698",
            "display" : "Mosaic trisomy 12"
          },
          {
            "code" : "169802",
            "display" : "Severe hemophilia A"
          },
          {
            "code" : "169805",
            "display" : "Moderate hemophilia A"
          },
          {
            "code" : "169808",
            "display" : "Mild hemophilia A"
          },
          {
            "code" : "1699",
            "display" : "Trisomy 12p"
          },
          {
            "code" : "17",
            "display" : "Fatal infantile lactic acidosis with methylmalonic aciduria"
          },
          {
            "code" : "170",
            "display" : "Woolly hair"
          },
          {
            "code" : "1702",
            "display" : "Non-distal duplication 13q"
          },
          {
            "code" : "1703",
            "display" : "Mosaic trisomy 14"
          },
          {
            "code" : "1705",
            "display" : "Distal duplication 14q"
          },
          {
            "code" : "1706",
            "display" : "Mosaic trisomy 15"
          },
          {
            "code" : "1707",
            "display" : "Distal duplication 15q"
          },
          {
            "code" : "1708",
            "display" : "Mosaic trisomy 16"
          },
          {
            "code" : "171",
            "display" : "Primary sclerosing cholangitis"
          },
          {
            "code" : "1711",
            "display" : "Mosaic trisomy 17"
          },
          {
            "code" : "171220",
            "display" : "Rectal duplication"
          },
          {
            "code" : "1713",
            "display" : "17p11.2 microduplication syndrome"
          },
          {
            "code" : "171430",
            "display" : "Severe congenital nemaline myopathy"
          },
          {
            "code" : "171433",
            "display" : "Intermediate nemaline myopathy"
          },
          {
            "code" : "171436",
            "display" : "Typical nemaline myopathy"
          },
          {
            "code" : "171439",
            "display" : "Childhood-onset nemaline myopathy"
          },
          {
            "code" : "171442",
            "display" : "Adult-onset nemaline myopathy"
          },
          {
            "code" : "171445",
            "display" : "Muscle filaminopathy"
          },
          {
            "code" : "1715",
            "display" : "Trisomy 18p"
          },
          {
            "code" : "1716",
            "display" : "Distal duplication 18q"
          },
          {
            "code" : "171607",
            "display" : "X-linked spastic paraplegia type 34"
          },
          {
            "code" : "171612",
            "display" : "Autosomal dominant spastic paraplegia type 37"
          },
          {
            "code" : "171617",
            "display" : "Autosomal dominant spastic paraplegia type 38"
          },
          {
            "code" : "171622",
            "display" : "Autosomal recessive spastic paraplegia type 32"
          },
          {
            "code" : "171629",
            "display" : "Autosomal recessive spastic paraplegia type 35"
          },
          {
            "code" : "171673",
            "display" : "Limbal stem cell deficiency"
          },
          {
            "code" : "171680",
            "display" : "Lissencephaly due to TUBA1A mutation"
          },
          {
            "code" : "171684",
            "display" : "Idiopathic bilateral vestibulopathy"
          },
          {
            "code" : "171690",
            "display" : "Metabolic myopathy due to lactate transporter defect"
          },
          {
            "code" : "171695",
            "display" : "Parkinsonian-pyramidal syndrome"
          },
          {
            "code" : "1717",
            "display" : "Distal duplication 19q"
          },
          {
            "code" : "171700",
            "display" : "Diffuse panbronchiolitis"
          },
          {
            "code" : "171703",
            "display" : "Microcephaly-polymicrogyria-corpus callosum agenesis syndrome"
          },
          {
            "code" : "171706",
            "display" : "Short stature-delayed bone age due to thyroid hormone metabolism deficiency"
          },
          {
            "code" : "171709",
            "display" : "Male infertility due to globozoospermia"
          },
          {
            "code" : "171719",
            "display" : "Cutis laxa-Marfanoid syndrome"
          },
          {
            "code" : "171723",
            "display" : "White sponge nevus"
          },
          {
            "code" : "171829",
            "display" : "6q16 microdeletion syndrome"
          },
          {
            "code" : "171839",
            "display" : "Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome"
          },
          {
            "code" : "171844",
            "display" : "Blindness-scoliosis-arachnodactyly syndrome"
          },
          {
            "code" : "171848",
            "display" : "Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome"
          },
          {
            "code" : "171851",
            "display" : "MEDNIK syndrome"
          },
          {
            "code" : "171863",
            "display" : "Autosomal dominant spastic paraplegia type 42"
          },
          {
            "code" : "171866",
            "display" : "Spondyloepimetaphyseal dysplasia, aggrecan type"
          },
          {
            "code" : "171871",
            "display" : "Renal pseudohypoaldosteronism type 1"
          },
          {
            "code" : "171876",
            "display" : "Generalized pseudohypoaldosteronism type 1"
          },
          {
            "code" : "171881",
            "display" : "Cap myopathy"
          },
          {
            "code" : "171886",
            "display" : "Cylindrical spirals myopathy"
          },
          {
            "code" : "171889",
            "display" : "Myopathy with hexagonally cross-linked tubular arrays"
          },
          {
            "code" : "171929",
            "display" : "Trisomy 10p"
          },
          {
            "code" : "172",
            "display" : "Progressive familial intrahepatic cholestasis"
          },
          {
            "code" : "1723",
            "display" : "Mosaic trisomy 2"
          },
          {
            "code" : "1724",
            "display" : "Mosaic trisomy 20"
          },
          {
            "code" : "1727",
            "display" : "22q11.2 duplication syndrome"
          },
          {
            "code" : "173",
            "display" : "Cholera"
          },
          {
            "code" : "1738",
            "display" : "Trisomy 4p"
          },
          {
            "code" : "174",
            "display" : "Metaphyseal chondrodysplasia, Schmid type"
          },
          {
            "code" : "1742",
            "display" : "Trisomy 5p"
          },
          {
            "code" : "1745",
            "display" : "Distal duplication 6p"
          },
          {
            "code" : "1747",
            "display" : "Mosaic trisomy 7"
          },
          {
            "code" : "175",
            "display" : "Cartilage-hair hypoplasia"
          },
          {
            "code" : "1752",
            "display" : "Trisomy 8q"
          },
          {
            "code" : "1756",
            "display" : "Caudal duplication"
          },
          {
            "code" : "1757",
            "display" : "Fibular dimelia-diplopodia syndrome"
          },
          {
            "code" : "1759",
            "display" : "Thoraco-abdominal enteric duplication"
          },
          {
            "code" : "1762",
            "display" : "Proximal Xq28 duplication syndrome"
          },
          {
            "code" : "1764",
            "display" : "Familial dysautonomia"
          },
          {
            "code" : "1765",
            "display" : "Dyschondrosteosis-nephritis syndrome"
          },
          {
            "code" : "1766",
            "display" : "Dysequilibrium syndrome"
          },
          {
            "code" : "1768",
            "display" : "Familial caudal dysgenesis"
          },
          {
            "code" : "177",
            "display" : "Rhizomelic chondrodysplasia punctata"
          },
          {
            "code" : "1770",
            "display" : "XY type gonadal dysgenesis-associated anomalies syndrome"
          },
          {
            "code" : "1772",
            "display" : "45,X/46,XY mixed gonadal dysgenesis"
          },
          {
            "code" : "1775",
            "display" : "Dyskeratosis congenita"
          },
          {
            "code" : "1777",
            "display" : "Temtamy syndrome"
          },
          {
            "code" : "1778",
            "display" : "Facial dysmorphism-shawl scrotum-joint laxity syndrome"
          },
          {
            "code" : "1779",
            "display" : "Dysmorphism-cleft palate-loose skin syndrome"
          },
          {
            "code" : "177901",
            "display" : "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1"
          },
          {
            "code" : "177904",
            "display" : "Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2"
          },
          {
            "code" : "177907",
            "display" : "Prader-Willi syndrome due to translocation"
          },
          {
            "code" : "177910",
            "display" : "Prader-Willi syndrome due to imprinting mutation"
          },
          {
            "code" : "177926",
            "display" : "Bleeding disorder in hemophilia A carriers"
          },
          {
            "code" : "177929",
            "display" : "Bleeding disorder in hemophilia B carriers"
          },
          {
            "code" : "178",
            "display" : "Chordoma"
          },
          {
            "code" : "1780",
            "display" : "Thakker-Donnai syndrome"
          },
          {
            "code" : "178029",
            "display" : "Central diabetes insipidus"
          },
          {
            "code" : "178145",
            "display" : "Moderate multiminicore disease with hand involvement"
          },
          {
            "code" : "178148",
            "display" : "Antenatal multiminicore disease with arthrogryposis multiplex congenita"
          },
          {
            "code" : "1782",
            "display" : "Dysosteosclerosis"
          },
          {
            "code" : "178303",
            "display" : "8q22.1 microdeletion syndrome"
          },
          {
            "code" : "178307",
            "display" : "Reticulate acropigmentation of Kitamura"
          },
          {
            "code" : "178311",
            "display" : "Isolated sternocostoclavicular hyperostosis"
          },
          {
            "code" : "178315",
            "display" : "Undifferentiated embryonal sarcoma of the liver"
          },
          {
            "code" : "178320",
            "display" : "Acute lung injury"
          },
          {
            "code" : "178333",
            "display" : "Åland Islands eye disease"
          },
          {
            "code" : "178338",
            "display" : "UV-sensitive syndrome"
          },
          {
            "code" : "178342",
            "display" : "Inflammatory myofibroblastic tumor"
          },
          {
            "code" : "178345",
            "display" : "Aromatase excess syndrome"
          },
          {
            "code" : "178355",
            "display" : "Smith-McCort dysplasia"
          },
          {
            "code" : "178364",
            "display" : "Syndromic microphthalmia type 5"
          },
          {
            "code" : "178377",
            "display" : "Osteosclerosis-developmental delay-craniosynostosis syndrome"
          },
          {
            "code" : "178382",
            "display" : "Congenital vertical talus"
          },
          {
            "code" : "178389",
            "display" : "Osteopetrosis-hypogammaglobulinemia syndrome"
          },
          {
            "code" : "178396",
            "display" : "Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation"
          },
          {
            "code" : "1784",
            "display" : "Acrofrontofacionasal dysostosis"
          },
          {
            "code" : "178400",
            "display" : "Distal myopathy with anterior tibial onset"
          },
          {
            "code" : "178461",
            "display" : "X-linked myopathy with postural muscle atrophy"
          },
          {
            "code" : "178464",
            "display" : "Hereditary myopathy with early respiratory failure"
          },
          {
            "code" : "178469",
            "display" : "Autosomal dominant non-syndromic intellectual disability"
          },
          {
            "code" : "178475",
            "display" : "Wound botulism"
          },
          {
            "code" : "178478",
            "display" : "Infant botulism"
          },
          {
            "code" : "178481",
            "display" : "Intestinal botulism"
          },
          {
            "code" : "178487",
            "display" : "Adult intestinal botulism"
          },
          {
            "code" : "178493",
            "display" : "Myopic macular degeneration"
          },
          {
            "code" : "178506",
            "display" : "Brain calcification, Rajab type"
          },
          {
            "code" : "178509",
            "display" : "Perry syndrome"
          },
          {
            "code" : "178512",
            "display" : "Folliculotropic mycosis fungoides"
          },
          {
            "code" : "178517",
            "display" : "Localized pagetoid reticulosis"
          },
          {
            "code" : "178522",
            "display" : "Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma"
          },
          {
            "code" : "178528",
            "display" : "Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma"
          },
          {
            "code" : "178533",
            "display" : "Primary cutaneous gamma/delta-positive T-cell lymphoma"
          },
          {
            "code" : "178536",
            "display" : "Primary cutaneous marginal zone B-cell lymphoma"
          },
          {
            "code" : "178540",
            "display" : "Primary cutaneous follicle center lymphoma"
          },
          {
            "code" : "178544",
            "display" : "Primary cutaneous diffuse large B-cell lymphoma, leg type"
          },
          {
            "code" : "1786",
            "display" : "Acrofacial dysostosis, Catania type"
          },
          {
            "code" : "1787",
            "display" : "Acrofacial dysostosis, Palagonia type"
          },
          {
            "code" : "1788",
            "display" : "Acrofacial dysostosis, Rodríguez type"
          },
          {
            "code" : "179",
            "display" : "Birdshot chorioretinopathy"
          },
          {
            "code" : "1790",
            "display" : "Hypomandibular faciocranial dysostosis"
          },
          {
            "code" : "1791",
            "display" : "Frontofacionasal dysplasia"
          },
          {
            "code" : "1794",
            "display" : "Oculomaxillofacial dysostosis"
          },
          {
            "code" : "179490",
            "display" : "Obesity due to congenital leptin resistance"
          },
          {
            "code" : "179494",
            "display" : "Obesity due to leptin receptor gene deficiency"
          },
          {
            "code" : "1795",
            "display" : "Peripheral dysostosis"
          },
          {
            "code" : "1797",
            "display" : "Autosomal dominant spondylocostal dysostosis"
          },
          {
            "code" : "1798",
            "display" : "Dysostosis, Stanescu type"
          },
          {
            "code" : "1799",
            "display" : "Familial developmental dysphasia"
          },
          {
            "code" : "18",
            "display" : "Distal renal tubular acidosis"
          },
          {
            "code" : "180",
            "display" : "Choroideremia"
          },
          {
            "code" : "180074",
            "display" : "True unicornuate uterus"
          },
          {
            "code" : "180079",
            "display" : "Pseudounicornuate uterus"
          },
          {
            "code" : "180086",
            "display" : "Didelphys uterus"
          },
          {
            "code" : "1801",
            "display" : "Kyphomelic dysplasia"
          },
          {
            "code" : "180106",
            "display" : "Bicervical bicornuate uterus and blind hemivagina"
          },
          {
            "code" : "180111",
            "display" : "Bicervical bicornuate uterus with patent cervix and vagina"
          },
          {
            "code" : "180114",
            "display" : "Unicervical bicornuate uterus"
          },
          {
            "code" : "180126",
            "display" : "Complete septate uterus"
          },
          {
            "code" : "180129",
            "display" : "Partial septate uterus"
          },
          {
            "code" : "180139",
            "display" : "Uterine hypoplasia"
          },
          {
            "code" : "180142",
            "display" : "Absence of uterine body"
          },
          {
            "code" : "180145",
            "display" : "Uterine cervical aplasia and agenesis"
          },
          {
            "code" : "180154",
            "display" : "Septate vagina"
          },
          {
            "code" : "180157",
            "display" : "Longitudinal vaginal septum"
          },
          {
            "code" : "180160",
            "display" : "Transverse vaginal septum"
          },
          {
            "code" : "180176",
            "display" : "Familial juvenile hypertrophy of the breast"
          },
          {
            "code" : "180182",
            "display" : "Supernumerary breasts"
          },
          {
            "code" : "180188",
            "display" : "Isolated congenital breast hypoplasia/aplasia"
          },
          {
            "code" : "1802",
            "display" : "Ghosal hematodiaphyseal dysplasia"
          },
          {
            "code" : "180226",
            "display" : "Embryonal carcinoma"
          },
          {
            "code" : "180229",
            "display" : "Polyembryoma"
          },
          {
            "code" : "180234",
            "display" : "Mixed germ cell tumor"
          },
          {
            "code" : "180237",
            "display" : "Benign tumor of fallopian tubes"
          },
          {
            "code" : "180242",
            "display" : "Malignant tumor of fallopian tubes"
          },
          {
            "code" : "180247",
            "display" : "Vaginal carcinoma"
          },
          {
            "code" : "180261",
            "display" : "Phyllodes tumor of the breast"
          },
          {
            "code" : "180267",
            "display" : "Giant adenofibroma of the breast"
          },
          {
            "code" : "180275",
            "display" : "Paget disease of the nipple"
          },
          {
            "code" : "1803",
            "display" : "Thoracomelic dysplasia"
          },
          {
            "code" : "1806",
            "display" : "Ectodermal dysplasia-blindness syndrome"
          },
          {
            "code" : "1807",
            "display" : "Focal facial dermal dysplasia type III"
          },
          {
            "code" : "1808",
            "display" : "Hidrotic ectodermal dysplasia, Christianson-Fourie type"
          },
          {
            "code" : "1809",
            "display" : "Hidrotic ectodermal dysplasia, Halal type"
          },
          {
            "code" : "181",
            "display" : "X-linked hypohidrotic ectodermal dysplasia"
          },
          {
            "code" : "1810",
            "display" : "Autosomal dominant hypohidrotic ectodermal dysplasia"
          },
          {
            "code" : "1811",
            "display" : "Odontomicronychial dysplasia"
          },
          {
            "code" : "1812",
            "display" : "Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome"
          },
          {
            "code" : "1816",
            "display" : "Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome"
          },
          {
            "code" : "1818",
            "display" : "Ectodermal dysplasia, trichoodontoonychial type"
          },
          {
            "code" : "182",
            "display" : "Chromomycosis"
          },
          {
            "code" : "182050",
            "display" : "MYH9-related disease"
          },
          {
            "code" : "182127",
            "display" : "Extragonadal germinoma"
          },
          {
            "code" : "1822",
            "display" : "Dysplasia epiphysealis hemimelica"
          },
          {
            "code" : "1824",
            "display" : "Lowry-Wood syndrome"
          },
          {
            "code" : "1825",
            "display" : "Epiphyseal dysplasia-hearing loss-dysmorphism syndrome"
          },
          {
            "code" : "1826",
            "display" : "Frontometaphyseal dysplasia"
          },
          {
            "code" : "1827",
            "display" : "Acromelic frontonasal dysplasia"
          },
          {
            "code" : "183",
            "display" : "Eosinophilic granulomatosis with polyangiitis"
          },
          {
            "code" : "1830",
            "display" : "Schimke immuno-osseous dysplasia"
          },
          {
            "code" : "1832",
            "display" : "Lethal osteosclerotic bone dysplasia"
          },
          {
            "code" : "1834",
            "display" : "Axial mesodermal dysplasia spectrum"
          },
          {
            "code" : "1836",
            "display" : "Mesomelic dysplasia, Kantaputra type"
          },
          {
            "code" : "183663",
            "display" : "Hyper-IgM syndrome with susceptibility to opportunistic infections"
          },
          {
            "code" : "183666",
            "display" : "Hyper-IgM syndrome without susceptibility to opportunistic infections"
          },
          {
            "code" : "183675",
            "display" : "Recurrent infections associated with rare immunoglobulin isotypes deficiency"
          },
          {
            "code" : "183678",
            "display" : "Hermansky-Pudlak syndrome due to AP-3 deficiency"
          },
          {
            "code" : "1837",
            "display" : "Ulna metaphyseal dysplasia syndrome"
          },
          {
            "code" : "183707",
            "display" : "Neutrophil immunodeficiency syndrome"
          },
          {
            "code" : "183713",
            "display" : "Bacterial susceptibility due to TLR signaling pathway deficiency"
          },
          {
            "code" : "1839",
            "display" : "Hereditary mucoepithelial dysplasia"
          },
          {
            "code" : "184",
            "display" : "Cherubism"
          },
          {
            "code" : "1842",
            "display" : "Bone dysplasia, lethal Holmgren type"
          },
          {
            "code" : "1848",
            "display" : "Renal agenesis, bilateral"
          },
          {
            "code" : "185",
            "display" : "Scimitar syndrome"
          },
          {
            "code" : "1851",
            "display" : "Multicystic dysplastic kidney"
          },
          {
            "code" : "1852",
            "display" : "X-linked retinal dysplasia"
          },
          {
            "code" : "1855",
            "display" : "Spondyloenchondrodysplasia"
          },
          {
            "code" : "1856",
            "display" : "Spondyloperipheral dysplasia-short ulna syndrome"
          },
          {
            "code" : "1858",
            "display" : "Skeletal dysplasia-epilepsy-short stature syndrome"
          },
          {
            "code" : "186",
            "display" : "Primary biliary cholangitis"
          },
          {
            "code" : "1860",
            "display" : "Thanatophoric dysplasia type 1"
          },
          {
            "code" : "1861",
            "display" : "Thoracic dysplasia-hydrocephalus syndrome"
          },
          {
            "code" : "1865",
            "display" : "Dyssegmental dysplasia, Silverman-Handmaker type"
          },
          {
            "code" : "1867",
            "display" : "Hereditary bullous dystrophy, macular type"
          },
          {
            "code" : "1871",
            "display" : "Progressive cone dystrophy"
          },
          {
            "code" : "1872",
            "display" : "Cone rod dystrophy"
          },
          {
            "code" : "1873",
            "display" : "Jalili syndrome"
          },
          {
            "code" : "1875",
            "display" : "Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome"
          },
          {
            "code" : "1876",
            "display" : "Oculogastrointestinal muscular dystrophy"
          },
          {
            "code" : "1878",
            "display" : "TRIM32-related limb-girdle muscular dystrophy R8"
          },
          {
            "code" : "1879",
            "display" : "Melorheostosis with osteopoikilosis"
          },
          {
            "code" : "188",
            "display" : "Systemic capillary leak syndrome"
          },
          {
            "code" : "1880",
            "display" : "Ebstein malformation of the tricuspid valve"
          },
          {
            "code" : "1882",
            "display" : "Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome"
          },
          {
            "code" : "1883",
            "display" : "Ectodermal dysplasia-sensorineural deafness syndrome"
          },
          {
            "code" : "1884",
            "display" : "Ectopia lentis-chorioretinal dystrophy-myopia syndrome"
          },
          {
            "code" : "1885",
            "display" : "Isolated ectopia lentis"
          },
          {
            "code" : "189",
            "display" : "Hidrotic ectodermal dysplasia"
          },
          {
            "code" : "1891",
            "display" : "Intellectual disability-spasticity-ectrodactyly syndrome"
          },
          {
            "code" : "1892",
            "display" : "Ectrodactyly-polydactyly syndrome"
          },
          {
            "code" : "189427",
            "display" : "Cushing syndrome due to bilateral macronodular adrenocortical disease"
          },
          {
            "code" : "189466",
            "display" : "Familial isolated hypoparathyroidism due to impaired PTH secretion"
          },
          {
            "code" : "1895",
            "display" : "Edinburgh malformation syndrome"
          },
          {
            "code" : "1896",
            "display" : "EEC syndrome"
          },
          {
            "code" : "1897",
            "display" : "EEM syndrome"
          },
          {
            "code" : "1899",
            "display" : "Arthrochalasia Ehlers-Danlos syndrome"
          },
          {
            "code" : "190",
            "display" : "Coats disease"
          },
          {
            "code" : "1900",
            "display" : "Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency"
          },
          {
            "code" : "1901",
            "display" : "Dermatosparaxis Ehlers-Danlos syndrome"
          },
          {
            "code" : "1902",
            "display" : "Ehrlichiosis"
          },
          {
            "code" : "1906",
            "display" : "Fetal valproate spectrum disorder"
          },
          {
            "code" : "1908",
            "display" : "Aminopterin/methotrexate embryofetopathy"
          },
          {
            "code" : "1909",
            "display" : "Indomethacin embryofetopathy"
          },
          {
            "code" : "191",
            "display" : "Cockayne syndrome"
          },
          {
            "code" : "1910",
            "display" : "Fetal iodine syndrome"
          },
          {
            "code" : "1911",
            "display" : "Cocaine embryofetopathy"
          },
          {
            "code" : "1912",
            "display" : "Fetal hydantoin syndrome"
          },
          {
            "code" : "1913",
            "display" : "Fetal trimethadione syndrome"
          },
          {
            "code" : "1914",
            "display" : "Vitamin K antagonist embryofetopathy"
          },
          {
            "code" : "1915",
            "display" : "Fetal alcohol syndrome"
          },
          {
            "code" : "1916",
            "display" : "Diethylstilbestrol syndrome"
          },
          {
            "code" : "1917",
            "display" : "Fetal methylmercury syndrome"
          },
          {
            "code" : "1918",
            "display" : "Fetal minoxidil syndrome"
          },
          {
            "code" : "1919",
            "display" : "Phenobarbital embryopathy"
          },
          {
            "code" : "192",
            "display" : "Coffin-Lowry syndrome"
          },
          {
            "code" : "1920",
            "display" : "Toluene embryopathy"
          },
          {
            "code" : "1923",
            "display" : "Methimazole embryofetopathy"
          },
          {
            "code" : "1926",
            "display" : "Diabetic embryopathy"
          },
          {
            "code" : "1927",
            "display" : "Emery-Nelson syndrome"
          },
          {
            "code" : "1928",
            "display" : "Congenital lobar emphysema"
          },
          {
            "code" : "1929",
            "display" : "Rasmussen subacute encephalitis"
          },
          {
            "code" : "193",
            "display" : "Cohen syndrome"
          },
          {
            "code" : "1930",
            "display" : "Herpes simplex virus encephalitis"
          },
          {
            "code" : "1931",
            "display" : "Frontal encephalocele"
          },
          {
            "code" : "1933",
            "display" : "Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"
          },
          {
            "code" : "1934",
            "display" : "Early infantile epileptic encephalopathy"
          },
          {
            "code" : "1935",
            "display" : "Early myoclonic encephalopathy"
          },
          {
            "code" : "1937",
            "display" : "Eng-Strom syndrome"
          },
          {
            "code" : "1941",
            "display" : "Juvenile absence epilepsy"
          },
          {
            "code" : "1942",
            "display" : "Myoclonic-astatic epilepsy"
          },
          {
            "code" : "1943",
            "display" : "Early-onset progressive encephalopathy with migrant continuous myoclonus"
          },
          {
            "code" : "1945",
            "display" : "Rolandic epilepsy"
          },
          {
            "code" : "1946",
            "display" : "Amelocerebrohypohidrotic syndrome"
          },
          {
            "code" : "1947",
            "display" : "Progressive epilepsy-intellectual disability syndrome, Finnish type"
          },
          {
            "code" : "1948",
            "display" : "Epilepsy-microcephaly-skeletal dysplasia syndrome"
          },
          {
            "code" : "1949",
            "display" : "Benign familial neonatal epilepsy"
          },
          {
            "code" : "195",
            "display" : "Cat-eye syndrome"
          },
          {
            "code" : "1951",
            "display" : "Epilepsy-telangiectasia syndrome"
          },
          {
            "code" : "1952",
            "display" : "Epiphyseal stippling-osteoclastic hyperplasia syndrome"
          },
          {
            "code" : "1954",
            "display" : "Congenital lethal erythroderma"
          },
          {
            "code" : "1955",
            "display" : "Spinocerebellar ataxia type 34"
          },
          {
            "code" : "1957",
            "display" : "Esthesioneuroblastoma"
          },
          {
            "code" : "1959",
            "display" : "Evans syndrome"
          },
          {
            "code" : "1962",
            "display" : "Exostoses-anetodermia-brachydactyly type E syndrome"
          },
          {
            "code" : "1964",
            "display" : "Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome"
          },
          {
            "code" : "1968",
            "display" : "Flat face-microstomia-ear anomaly syndrome"
          },
          {
            "code" : "1969",
            "display" : "Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome"
          },
          {
            "code" : "1970",
            "display" : "Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome"
          },
          {
            "code" : "1972",
            "display" : "Lethal faciocardiomelic dysplasia"
          },
          {
            "code" : "1973",
            "display" : "Faciocardiorenal syndrome"
          },
          {
            "code" : "1974",
            "display" : "Autosomal recessive faciodigitogenital syndrome"
          },
          {
            "code" : "1979",
            "display" : "Lipodystrophy due to peptidic growth factors deficiency"
          },
          {
            "code" : "198",
            "display" : "Occipital horn syndrome"
          },
          {
            "code" : "1980",
            "display" : "Bilateral striopallidodentate calcinosis"
          },
          {
            "code" : "1986",
            "display" : "Gollop-Wolfgang complex"
          },
          {
            "code" : "1987",
            "display" : "Femoral agenesis/hypoplasia"
          },
          {
            "code" : "1988",
            "display" : "Femoral-facial syndrome"
          },
          {
            "code" : "199",
            "display" : "Cornelia de Lange syndrome"
          },
          {
            "code" : "199241",
            "display" : "Pulmonary capillary hemangiomatosis"
          },
          {
            "code" : "199244",
            "display" : "Nelson syndrome"
          },
          {
            "code" : "199247",
            "display" : "Corticosteroid-binding globulin deficiency"
          },
          {
            "code" : "199251",
            "display" : "Ledderhose disease"
          },
          {
            "code" : "199260",
            "display" : "Calcifying aponeurotic fibroma"
          },
          {
            "code" : "199267",
            "display" : "Infantile digital fibromatosis"
          },
          {
            "code" : "199276",
            "display" : "Familial multiple lipomatosis"
          },
          {
            "code" : "199279",
            "display" : "Familial angiolipomatosis"
          },
          {
            "code" : "199282",
            "display" : "Harlequin syndrome"
          },
          {
            "code" : "199285",
            "display" : "Hereditary hypercarotenemia and vitamin A deficiency"
          },
          {
            "code" : "199293",
            "display" : "Congenital microgastria"
          },
          {
            "code" : "199296",
            "display" : "Congenital isolated ACTH deficiency"
          },
          {
            "code" : "199299",
            "display" : "Late-onset isolated ACTH deficiency"
          },
          {
            "code" : "1993",
            "display" : "Pai syndrome"
          },
          {
            "code" : "199302",
            "display" : "Isolated cleft lip"
          },
          {
            "code" : "199306",
            "display" : "Cleft lip/palate"
          },
          {
            "code" : "199310",
            "display" : "Tetragametic chimerism"
          },
          {
            "code" : "199315",
            "display" : "Familial clubfoot with or without associated lower limb anomalies"
          },
          {
            "code" : "199318",
            "display" : "15q13.3 microdeletion syndrome"
          },
          {
            "code" : "199323",
            "display" : "Endophthalmitis"
          },
          {
            "code" : "199326",
            "display" : "Isolated autosomal dominant hypomagnesemia, Glaudemans type"
          },
          {
            "code" : "199329",
            "display" : "Congenital myopathy, Paradas type"
          },
          {
            "code" : "199332",
            "display" : "Endocrine-cerebro-osteodysplasia syndrome"
          },
          {
            "code" : "199337",
            "display" : "Pancreatic insufficiency-anemia-hyperostosis syndrome"
          },
          {
            "code" : "199340",
            "display" : "Muscular dystrophy, Selcen type"
          },
          {
            "code" : "199343",
            "display" : "EAST syndrome"
          },
          {
            "code" : "199348",
            "display" : "Thiamine-responsive encephalopathy"
          },
          {
            "code" : "199351",
            "display" : "Adult-onset dystonia-parkinsonism"
          },
          {
            "code" : "199354",
            "display" : "Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy"
          },
          {
            "code" : "1995",
            "display" : "Cleft lip-retinopathy syndrome"
          },
          {
            "code" : "199627",
            "display" : "Atypical autism"
          },
          {
            "code" : "199630",
            "display" : "Isolated cerebellar vermis hypoplasia"
          },
          {
            "code" : "199642",
            "display" : "Isolated congenital microcephaly"
          },
          {
            "code" : "199647",
            "display" : "Isolated encephalocele"
          },
          {
            "code" : "1997",
            "display" : "Blepharo-cheilo-odontic syndrome"
          },
          {
            "code" : "20",
            "display" : "3-hydroxy-3-methylglutaric aciduria"
          },
          {
            "code" : "200",
            "display" : "Isolated corpus callosum agenesis"
          },
          {
            "code" : "2001",
            "display" : "Cleft lip/palate-intestinal malrotation-cardiopathy syndrome"
          },
          {
            "code" : "2003",
            "display" : "Cleft lip/palate-deafness-sacral lipoma syndrome"
          },
          {
            "code" : "2004",
            "display" : "Laryngotracheoesophageal cleft"
          },
          {
            "code" : "200418",
            "display" : "Immunodeficiency with factor I anomaly"
          },
          {
            "code" : "200421",
            "display" : "Immunodeficiency with factor H anomaly"
          },
          {
            "code" : "2006",
            "display" : "Median cleft lip/mandible"
          },
          {
            "code" : "2007",
            "display" : "Alar cartilages hypoplasia-coloboma-telecanthus syndrome"
          },
          {
            "code" : "2008",
            "display" : "Acrocardiofacial syndrome"
          },
          {
            "code" : "201",
            "display" : "Cowden syndrome"
          },
          {
            "code" : "2010",
            "display" : "Cleft palate-stapes fixation-oligodontia syndrome"
          },
          {
            "code" : "2013",
            "display" : "Cleft palate-large ears-small head syndrome"
          },
          {
            "code" : "2015",
            "display" : "Cleft palate-short stature-vertebral anomalies syndrome"
          },
          {
            "code" : "2016",
            "display" : "Cleft palate-lateral synechia syndrome"
          },
          {
            "code" : "2017",
            "display" : "Sternal cleft"
          },
          {
            "code" : "2019",
            "display" : "Femur-fibula-ulna complex"
          },
          {
            "code" : "202",
            "display" : "Crandall syndrome"
          },
          {
            "code" : "2020",
            "display" : "Congenital fiber-type disproportion myopathy"
          },
          {
            "code" : "2021",
            "display" : "Fibrochondrogenesis"
          },
          {
            "code" : "2022",
            "display" : "Endocardial fibroelastosis"
          },
          {
            "code" : "2023",
            "display" : "Undifferentiated pleomorphic sarcoma"
          },
          {
            "code" : "2024",
            "display" : "Hereditary gingival fibromatosis"
          },
          {
            "code" : "2025",
            "display" : "Gingival fibromatosis-facial dysmorphism syndrome"
          },
          {
            "code" : "2026",
            "display" : "Gingival fibromatosis-hypertrichosis syndrome"
          },
          {
            "code" : "2027",
            "display" : "Gingival fibromatosis-progressive deafness syndrome"
          },
          {
            "code" : "2028",
            "display" : "Juvenile hyaline fibromatosis"
          },
          {
            "code" : "2030",
            "display" : "Fibrosarcoma"
          },
          {
            "code" : "2031",
            "display" : "Hepatic fibrosis-renal cysts-intellectual disability syndrome"
          },
          {
            "code" : "2032",
            "display" : "Idiopathic pulmonary fibrosis"
          },
          {
            "code" : "2035",
            "display" : "Lymphatic filariasis"
          },
          {
            "code" : "2036",
            "display" : "Scalp-ear-nipple syndrome"
          },
          {
            "code" : "2037",
            "display" : "Congenital aortopulmonary window"
          },
          {
            "code" : "2038",
            "display" : "Pulmonary arteriovenous malformation"
          },
          {
            "code" : "2039",
            "display" : "Congenital systemic arteriovenous fistula"
          },
          {
            "code" : "204",
            "display" : "Sporadic Creutzfeldt-Jakob disease"
          },
          {
            "code" : "2040",
            "display" : "Congenital respiratory-biliary fistula"
          },
          {
            "code" : "2041",
            "display" : "Coronary arterial fistula"
          },
          {
            "code" : "2044",
            "display" : "Floating-Harbor syndrome"
          },
          {
            "code" : "2045",
            "display" : "FLOTCH syndrome"
          },
          {
            "code" : "2047",
            "display" : "Flynn-Aird syndrome"
          },
          {
            "code" : "2048",
            "display" : "Foix-Chavany-Marie syndrome"
          },
          {
            "code" : "205",
            "display" : "Crigler-Najjar syndrome"
          },
          {
            "code" : "2050",
            "display" : "Cole-Carpenter syndrome"
          },
          {
            "code" : "2052",
            "display" : "Fraser syndrome"
          },
          {
            "code" : "2053",
            "display" : "Freeman-Sheldon syndrome"
          },
          {
            "code" : "2056",
            "display" : "Essential fructosuria"
          },
          {
            "code" : "2057",
            "display" : "Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome"
          },
          {
            "code" : "2058",
            "display" : "Fryns-Smeets-Thiry syndrome"
          },
          {
            "code" : "2059",
            "display" : "Fryns syndrome"
          },
          {
            "code" : "2062",
            "display" : "Progressive non-infectious anterior vertebral fusion"
          },
          {
            "code" : "2063",
            "display" : "Splenogonadal fusion-limb defects-micrognathia syndrome"
          },
          {
            "code" : "2064",
            "display" : "Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome"
          },
          {
            "code" : "206436",
            "display" : "Infantile Krabbe disease"
          },
          {
            "code" : "206443",
            "display" : "Late-infantile/juvenile Krabbe disease"
          },
          {
            "code" : "206448",
            "display" : "Adult Krabbe disease"
          },
          {
            "code" : "206470",
            "display" : "Cystadenoma of childhood"
          },
          {
            "code" : "206484",
            "display" : "Gonadoblastoma"
          },
          {
            "code" : "206489",
            "display" : "Malignant germ cell tumor of the vagina"
          },
          {
            "code" : "206492",
            "display" : "Vulvovaginal rhabdomyosarcoma"
          },
          {
            "code" : "2065",
            "display" : "Galloway-Mowat syndrome"
          },
          {
            "code" : "206538",
            "display" : "Malignant non-dysgerminomatous germ cell tumor of ovary"
          },
          {
            "code" : "206546",
            "display" : "Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers"
          },
          {
            "code" : "206549",
            "display" : "Anoctamin-5-related limb-girdle muscular dystrophy R12"
          },
          {
            "code" : "206554",
            "display" : "Fukutin-related limb-girdle muscular dystrophy R13"
          },
          {
            "code" : "206559",
            "display" : "POMT2-related limb-girdle muscular dystrophy R14"
          },
          {
            "code" : "206564",
            "display" : "POMGNT1-related limb-girdle muscular dystrophy R15"
          },
          {
            "code" : "206569",
            "display" : "Immune-mediated necrotizing myopathy"
          },
          {
            "code" : "206572",
            "display" : "Overlap myositis"
          },
          {
            "code" : "206575",
            "display" : "Rippling muscle disease with myasthenia gravis"
          },
          {
            "code" : "206580",
            "display" : "Autosomal recessive lower motor neuron disease with childhood onset"
          },
          {
            "code" : "206583",
            "display" : "Adult polyglucosan body disease"
          },
          {
            "code" : "206586",
            "display" : "Neurolymphomatosis"
          },
          {
            "code" : "206594",
            "display" : "Subacute inflammatory demyelinating polyneuropathy"
          },
          {
            "code" : "206599",
            "display" : "Isolated asymptomatic elevation of creatine phosphokinase"
          },
          {
            "code" : "2066",
            "display" : "Gamma-aminobutyric acid transaminase deficiency"
          },
          {
            "code" : "2067",
            "display" : "GAPO syndrome"
          },
          {
            "code" : "2069",
            "display" : "Gastrocutaneous syndrome"
          },
          {
            "code" : "206991",
            "display" : "Viral myositis"
          },
          {
            "code" : "206994",
            "display" : "Bacterial myositis"
          },
          {
            "code" : "207",
            "display" : "Crouzon syndrome"
          },
          {
            "code" : "2070",
            "display" : "Eosinophilic gastroenteritis"
          },
          {
            "code" : "207000",
            "display" : "Fungal myositis"
          },
          {
            "code" : "2072",
            "display" : "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome"
          },
          {
            "code" : "2073",
            "display" : "Narcolepsy type 1"
          },
          {
            "code" : "2074",
            "display" : "Gemignani syndrome"
          },
          {
            "code" : "2075",
            "display" : "Genitopalatocardiac syndrome"
          },
          {
            "code" : "2077",
            "display" : "German syndrome"
          },
          {
            "code" : "2078",
            "display" : "Geroderma osteodysplastica"
          },
          {
            "code" : "2083",
            "display" : "Prominent glabella-microcephaly-hypogenitalism syndrome"
          },
          {
            "code" : "2084",
            "display" : "Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome"
          },
          {
            "code" : "208441",
            "display" : "Bilateral parasagittal parieto-occipital polymicrogyria"
          },
          {
            "code" : "208444",
            "display" : "Bilateral frontal polymicrogyria"
          },
          {
            "code" : "208447",
            "display" : "Bilateral generalized polymicrogyria"
          },
          {
            "code" : "2085",
            "display" : "Glaucoma-sleep apnea syndrome"
          },
          {
            "code" : "208513",
            "display" : "Spinocerebellar ataxia type 29"
          },
          {
            "code" : "208524",
            "display" : "Herpetiform pemphigus"
          },
          {
            "code" : "2086",
            "display" : "Optic pathway glioma"
          },
          {
            "code" : "2088",
            "display" : "Fanconi-Bickel syndrome"
          },
          {
            "code" : "2089",
            "display" : "Glycogen storage disease due to hepatic glycogen synthase deficiency"
          },
          {
            "code" : "208989",
            "display" : "Non-paraneoplastic sensory ganglionopathy"
          },
          {
            "code" : "208999",
            "display" : "Paraneoplastic sensory ganglionopathy"
          },
          {
            "code" : "2090",
            "display" : "GMS syndrome"
          },
          {
            "code" : "209004",
            "display" : "Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy"
          },
          {
            "code" : "2091",
            "display" : "Multinodular goiter-cystic kidney-polydactyly syndrome"
          },
          {
            "code" : "2092",
            "display" : "Focal dermal hypoplasia"
          },
          {
            "code" : "209335",
            "display" : "Autosomal dominant adult-onset proximal spinal muscular atrophy"
          },
          {
            "code" : "209341",
            "display" : "DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy"
          },
          {
            "code" : "209370",
            "display" : "Severe neonatal-onset encephalopathy with microcephaly"
          },
          {
            "code" : "2095",
            "display" : "Gorlin-Chaudhry-Moss syndrome"
          },
          {
            "code" : "2097",
            "display" : "Grant syndrome"
          },
          {
            "code" : "2098",
            "display" : "Acromesomelic dysplasia, Grebe type"
          },
          {
            "code" : "209867",
            "display" : "Autosomal dominant rhegmatogenous retinal detachment"
          },
          {
            "code" : "209902",
            "display" : "Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency"
          },
          {
            "code" : "209905",
            "display" : "Brain-lung-thyroid syndrome"
          },
          {
            "code" : "209908",
            "display" : "Isolated childhood apraxia of speech"
          },
          {
            "code" : "209916",
            "display" : "Extraskeletal myxoid chondrosarcoma"
          },
          {
            "code" : "209919",
            "display" : "Idiopathic copper-associated cirrhosis"
          },
          {
            "code" : "209932",
            "display" : "Cone dystrophy with supernormal rod response"
          },
          {
            "code" : "209943",
            "display" : "IRVAN syndrome"
          },
          {
            "code" : "209951",
            "display" : "Autosomal spastic paraplegia type 18"
          },
          {
            "code" : "209956",
            "display" : "Idiopathic uveal effusion syndrome"
          },
          {
            "code" : "209959",
            "display" : "Phacoanaphylactic uveitis"
          },
          {
            "code" : "209964",
            "display" : "Solitary rectal ulcer syndrome"
          },
          {
            "code" : "209967",
            "display" : "Episodic ataxia type 6"
          },
          {
            "code" : "209970",
            "display" : "Episodic ataxia type 7"
          },
          {
            "code" : "209973",
            "display" : "Benign nocturnal alternating hemiplegia of childhood"
          },
          {
            "code" : "209981",
            "display" : "IRIDA syndrome"
          },
          {
            "code" : "209989",
            "display" : "Non-papillary transitional cell carcinoma of the bladder"
          },
          {
            "code" : "210",
            "display" : "Cyclosporiasis"
          },
          {
            "code" : "2101",
            "display" : "Grubben-de Cock-Borghgraef syndrome"
          },
          {
            "code" : "210110",
            "display" : "Intermediate osteopetrosis"
          },
          {
            "code" : "210115",
            "display" : "Sterile multifocal osteomyelitis with periostitis and pustulosis"
          },
          {
            "code" : "210122",
            "display" : "Congenital alveolar capillary dysplasia"
          },
          {
            "code" : "210128",
            "display" : "Urocanic aciduria"
          },
          {
            "code" : "210133",
            "display" : "Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome"
          },
          {
            "code" : "210136",
            "display" : "Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome"
          },
          {
            "code" : "210141",
            "display" : "Inherited congenital spastic tetraplegia"
          },
          {
            "code" : "210144",
            "display" : "Lethal polymalformative syndrome, Boissel type"
          },
          {
            "code" : "210159",
            "display" : "Adult hepatocellular carcinoma"
          },
          {
            "code" : "210163",
            "display" : "Congenital lethal myopathy, Compton-North type"
          },
          {
            "code" : "2102",
            "display" : "GTP cyclohydrolase I deficiency"
          },
          {
            "code" : "210272",
            "display" : "Mal de débarquement"
          },
          {
            "code" : "2104",
            "display" : "Dysmorphism-pectus carinatum-joint laxity syndrome"
          },
          {
            "code" : "210548",
            "display" : "Macrocephaly-intellectual disability-autism syndrome"
          },
          {
            "code" : "210571",
            "display" : "Dystonia 16"
          },
          {
            "code" : "210576",
            "display" : "Congenital temporomandibular joint ankylosis"
          },
          {
            "code" : "210584",
            "display" : "Spindle cell hemangioma"
          },
          {
            "code" : "2107",
            "display" : "Hall-Riggs syndrome"
          },
          {
            "code" : "2108",
            "display" : "Hallermann-Streiff syndrome"
          },
          {
            "code" : "2109",
            "display" : "Hallermann-Streiff-like syndrome"
          },
          {
            "code" : "211",
            "display" : "Familial cylindromatosis"
          },
          {
            "code" : "2110",
            "display" : "Hallux varus-preaxial polysyndactyly syndrome"
          },
          {
            "code" : "211017",
            "display" : "Spinocerebellar ataxia type 30"
          },
          {
            "code" : "211067",
            "display" : "Episodic ataxia type 5"
          },
          {
            "code" : "2111",
            "display" : "Cystic hamartoma of lung and kidney"
          },
          {
            "code" : "2114",
            "display" : "Hip dysplasia, Beukes type"
          },
          {
            "code" : "2115",
            "display" : "Harrod syndrome"
          },
          {
            "code" : "2116",
            "display" : "Hartnup disease"
          },
          {
            "code" : "2117",
            "display" : "Hartsfield syndrome"
          },
          {
            "code" : "2118",
            "display" : "Hawkinsinuria"
          },
          {
            "code" : "2119",
            "display" : "HEC syndrome"
          },
          {
            "code" : "212",
            "display" : "Cystathioninuria"
          },
          {
            "code" : "2122",
            "display" : "Kaposiform hemangioendothelioma"
          },
          {
            "code" : "2123",
            "display" : "Diffuse neonatal hemangiomatosis"
          },
          {
            "code" : "2126",
            "display" : "Solitary fibrous tumor"
          },
          {
            "code" : "2128",
            "display" : "Isolated hemihyperplasia"
          },
          {
            "code" : "213",
            "display" : "Cystinosis"
          },
          {
            "code" : "2131",
            "display" : "Alternating hemiplegia of childhood"
          },
          {
            "code" : "2132",
            "display" : "Hemoglobin C disease"
          },
          {
            "code" : "2133",
            "display" : "Hemoglobin E disease"
          },
          {
            "code" : "2134",
            "display" : "Atypical hemolytic uremic syndrome"
          },
          {
            "code" : "2135",
            "display" : "Hennekam-Beemer syndrome"
          },
          {
            "code" : "213504",
            "display" : "Adenocarcinoma of ovary"
          },
          {
            "code" : "213512",
            "display" : "Malignant mixed Müllerian tumor of the ovary"
          },
          {
            "code" : "213528",
            "display" : "Rare adenocarcinoma of the breast"
          },
          {
            "code" : "213531",
            "display" : "Metaplastic carcinoma of the breast"
          },
          {
            "code" : "213557",
            "display" : "Salivary gland type cancer of the breast"
          },
          {
            "code" : "2136",
            "display" : "Hennekam syndrome"
          },
          {
            "code" : "213600",
            "display" : "Adenosarcoma of the corpus uteri"
          },
          {
            "code" : "213605",
            "display" : "Carcinofibroma of the corpus uteri"
          },
          {
            "code" : "213610",
            "display" : "Carcinosarcoma of the corpus uteri"
          },
          {
            "code" : "213615",
            "display" : "Rhabdomyosarcoma of the corpus uteri"
          },
          {
            "code" : "213625",
            "display" : "Leiomyosarcoma of the corpus uteri"
          },
          {
            "code" : "213630",
            "display" : "Primitive neuroectodermal tumor of the corpus uteri"
          },
          {
            "code" : "2137",
            "display" : "Autoimmune hepatitis"
          },
          {
            "code" : "213711",
            "display" : "Endometrial stromal sarcoma"
          },
          {
            "code" : "213716",
            "display" : "Squamous cell carcinoma of the corpus uteri"
          },
          {
            "code" : "213721",
            "display" : "Undifferentiated carcinoma of the corpus uteri"
          },
          {
            "code" : "213726",
            "display" : "Serous carcinoma of the corpus uteri"
          },
          {
            "code" : "213731",
            "display" : "High-grade neuroendocrine carcinoma of the corpus uteri"
          },
          {
            "code" : "213736",
            "display" : "Low-grade neuroendocrine tumor of the corpus uteri"
          },
          {
            "code" : "213746",
            "display" : "Transitional cell carcinoma of the corpus uteri"
          },
          {
            "code" : "213751",
            "display" : "Malignant germ cell tumor of the corpus uteri"
          },
          {
            "code" : "213767",
            "display" : "Squamous cell carcinoma of the cervix uteri"
          },
          {
            "code" : "213772",
            "display" : "Adenocarcinoma of the cervix uteri"
          },
          {
            "code" : "213777",
            "display" : "High-grade neuroendocrine carcinoma of the cervix uteri"
          },
          {
            "code" : "213787",
            "display" : "Carcinosarcoma of the cervix uteri"
          },
          {
            "code" : "213792",
            "display" : "Adenosarcoma of the cervix uteri"
          },
          {
            "code" : "2138",
            "display" : "46,XX ovotesticular difference of sex development"
          },
          {
            "code" : "213802",
            "display" : "Rhabdomyosarcoma of the cervix uteri"
          },
          {
            "code" : "213807",
            "display" : "Leiomyosarcoma of the cervix uteri"
          },
          {
            "code" : "213812",
            "display" : "Primitive neuroectodermal tumor of the cervix uteri"
          },
          {
            "code" : "213823",
            "display" : "Adenoid cystic carcinoma of the cervix uteri"
          },
          {
            "code" : "213828",
            "display" : "Adenoid basal carcinoma of the cervix uteri"
          },
          {
            "code" : "213833",
            "display" : "Glassy cell carcinoma of the cervix uteri"
          },
          {
            "code" : "213837",
            "display" : "Malignant germ cell tumor of the cervix uteri"
          },
          {
            "code" : "2139",
            "display" : "Hernández-Aguirre Negrete syndrome"
          },
          {
            "code" : "214",
            "display" : "Cystinuria"
          },
          {
            "code" : "2140",
            "display" : "Congenital diaphragmatic hernia"
          },
          {
            "code" : "2141",
            "display" : "Diaphragmatic defect-limb deficiency-skull defect syndrome"
          },
          {
            "code" : "2143",
            "display" : "Donnai-Barrow syndrome"
          },
          {
            "code" : "2145",
            "display" : "Craniosynostosis, Herrmann-Opitz type"
          },
          {
            "code" : "2148",
            "display" : "Lissencephaly type 1 due to doublecortin gene mutation"
          },
          {
            "code" : "2149",
            "display" : "Nodular neuronal heterotopia"
          },
          {
            "code" : "215",
            "display" : "Congenital stationary night blindness"
          },
          {
            "code" : "2150",
            "display" : "Hirschsprung disease-type D brachydactyly syndrome"
          },
          {
            "code" : "2151",
            "display" : "Hirschsprung disease-ganglioneuroblastoma syndrome"
          },
          {
            "code" : "2152",
            "display" : "Mowat-Wilson syndrome"
          },
          {
            "code" : "2153",
            "display" : "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome"
          },
          {
            "code" : "2155",
            "display" : "Hirschsprung disease-deafness-polydactyly syndrome"
          },
          {
            "code" : "2157",
            "display" : "Histidinemia"
          },
          {
            "code" : "2158",
            "display" : "Histidinuria-renal tubular defect syndrome"
          },
          {
            "code" : "2162",
            "display" : "Holoprosencephaly"
          },
          {
            "code" : "2163",
            "display" : "Holoprosencephaly-craniosynostosis syndrome"
          },
          {
            "code" : "2165",
            "display" : "Holoprosencephaly-caudal dysgenesis syndrome"
          },
          {
            "code" : "2166",
            "display" : "Holoprosencephaly-postaxial polydactyly syndrome"
          },
          {
            "code" : "216694",
            "display" : "Congenitally corrected transposition of the great arteries"
          },
          {
            "code" : "2167",
            "display" : "Holzgreve syndrome"
          },
          {
            "code" : "216718",
            "display" : "Isolated congenitally uncorrected transposition of the great arteries"
          },
          {
            "code" : "216729",
            "display" : "Congenitally uncorrected transposition of the great arteries with cardiac malformation"
          },
          {
            "code" : "216796",
            "display" : "Osteogenesis imperfecta type 1"
          },
          {
            "code" : "216804",
            "display" : "Osteogenesis imperfecta type 2"
          },
          {
            "code" : "216812",
            "display" : "Osteogenesis imperfecta type 3"
          },
          {
            "code" : "216820",
            "display" : "Osteogenesis imperfecta type 4"
          },
          {
            "code" : "216828",
            "display" : "Osteogenesis imperfecta type 5"
          },
          {
            "code" : "216866",
            "display" : "Classic pantothenate kinase-associated neurodegeneration"
          },
          {
            "code" : "216873",
            "display" : "Atypical pantothenate kinase-associated neurodegeneration"
          },
          {
            "code" : "2169",
            "display" : "Methylcobalamin deficiency type cblE"
          },
          {
            "code" : "216972",
            "display" : "Niemann-Pick disease type C, severe perinatal form"
          },
          {
            "code" : "216975",
            "display" : "Niemann-Pick disease type C, severe early infantile neurologic onset"
          },
          {
            "code" : "216978",
            "display" : "Niemann-Pick disease type C, late infantile neurologic onset"
          },
          {
            "code" : "216981",
            "display" : "Niemann-Pick disease type C, juvenile neurologic onset"
          },
          {
            "code" : "216986",
            "display" : "Niemann-Pick disease type C, adult neurologic onset"
          },
          {
            "code" : "217",
            "display" : "Isolated Dandy-Walker malformation"
          },
          {
            "code" : "2170",
            "display" : "Methylcobalamin deficiency type cblG"
          },
          {
            "code" : "217008",
            "display" : "Bockenheimer syndrome"
          },
          {
            "code" : "217012",
            "display" : "Spinocerebellar ataxia type 31"
          },
          {
            "code" : "217017",
            "display" : "Zechi-Ceide syndrome"
          },
          {
            "code" : "217026",
            "display" : "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type"
          },
          {
            "code" : "217055",
            "display" : "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A"
          },
          {
            "code" : "217059",
            "display" : "Isolated congenital digital clubbing"
          },
          {
            "code" : "217064",
            "display" : "5-fluorouracil poisoning"
          },
          {
            "code" : "217067",
            "display" : "Pouchitis"
          },
          {
            "code" : "217080",
            "display" : "Pulmonary fungal infections in patients deemed at risk"
          },
          {
            "code" : "217085",
            "display" : "Mucopolysaccharidosis type 2, severe form"
          },
          {
            "code" : "217093",
            "display" : "Mucopolysaccharidosis type 2, attenuated form"
          },
          {
            "code" : "2172",
            "display" : "Microcephaly-glomerulonephritis-marfanoid habitus syndrome"
          },
          {
            "code" : "217253",
            "display" : "NMDA receptor encephalitis"
          },
          {
            "code" : "217260",
            "display" : "Progressive multifocal leukoencephalopathy"
          },
          {
            "code" : "217266",
            "display" : "BNAR syndrome"
          },
          {
            "code" : "217330",
            "display" : "REN-related autosomal dominant tubulointerstitial kidney disease"
          },
          {
            "code" : "217335",
            "display" : "RIN2 syndrome"
          },
          {
            "code" : "217340",
            "display" : "17q21.31 microduplication syndrome"
          },
          {
            "code" : "217346",
            "display" : "19q13.11 microdeletion syndrome"
          },
          {
            "code" : "217371",
            "display" : "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins"
          },
          {
            "code" : "217377",
            "display" : "Microduplication Xp11.22p11.23 syndrome"
          },
          {
            "code" : "217382",
            "display" : "Neurodegenerative syndrome due to cerebral folate transport deficiency"
          },
          {
            "code" : "217385",
            "display" : "17p13.3 microduplication syndrome"
          },
          {
            "code" : "217390",
            "display" : "Combined immunodeficiency due to DOCK8 deficiency"
          },
          {
            "code" : "217396",
            "display" : "Progressive polyneuropathy with bilateral striatal necrosis"
          },
          {
            "code" : "217399",
            "display" : "Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation"
          },
          {
            "code" : "217407",
            "display" : "Hereditary hypotrichosis with recurrent skin vesicles"
          },
          {
            "code" : "217467",
            "display" : "Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency"
          },
          {
            "code" : "217557",
            "display" : "Pulmonary interstitial glycogenosis"
          },
          {
            "code" : "217560",
            "display" : "Neuroendocrine cell hyperplasia of infancy"
          },
          {
            "code" : "217563",
            "display" : "Neonatal acute respiratory distress due to SP-B deficiency"
          },
          {
            "code" : "217566",
            "display" : "Chronic respiratory distress with surfactant metabolism deficiency"
          },
          {
            "code" : "2176",
            "display" : "Infantile systemic hyalinosis"
          },
          {
            "code" : "217622",
            "display" : "Sensorineural deafness with dilated cardiomyopathy"
          },
          {
            "code" : "217656",
            "display" : "Familial isolated arrhythmogenic right ventricular dysplasia"
          },
          {
            "code" : "2177",
            "display" : "Hydranencephaly"
          },
          {
            "code" : "218",
            "display" : "Darier disease"
          },
          {
            "code" : "2180",
            "display" : "Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome"
          },
          {
            "code" : "2181",
            "display" : "Hydrocephaly-tall stature-joint laxity syndrome"
          },
          {
            "code" : "2182",
            "display" : "Hydrocephalus with stenosis of the aqueduct of Sylvius"
          },
          {
            "code" : "2183",
            "display" : "Hydrocephalus-obesity-hypogonadism syndrome"
          },
          {
            "code" : "2184",
            "display" : "Hydrocephaly-low insertion umbilicus syndrome"
          },
          {
            "code" : "2185",
            "display" : "Congenital hydrocephalus"
          },
          {
            "code" : "2186",
            "display" : "Hydrocephalus-blue sclerae-nephropathy syndrome"
          },
          {
            "code" : "2189",
            "display" : "Hydrolethalus"
          },
          {
            "code" : "219",
            "display" : "Delta-sarcoglycan-related limb-girdle muscular dystrophy R6"
          },
          {
            "code" : "2194",
            "display" : "Anti-HLA hyperimmunization"
          },
          {
            "code" : "2195",
            "display" : "Dicarboxylic aminoaciduria"
          },
          {
            "code" : "2196",
            "display" : "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement"
          },
          {
            "code" : "2197",
            "display" : "Idiopathic hypercalciuria"
          },
          {
            "code" : "2198",
            "display" : "Palmoplantar keratoderma-esophageal carcinoma syndrome"
          },
          {
            "code" : "2199",
            "display" : "Epidermolytic palmoplantar keratoderma"
          },
          {
            "code" : "22",
            "display" : "Succinic semialdehyde dehydrogenase deficiency"
          },
          {
            "code" : "220",
            "display" : "Denys-Drash syndrome"
          },
          {
            "code" : "2200",
            "display" : "Focal palmoplantar and gingival keratoderma"
          },
          {
            "code" : "2201",
            "display" : "Palmoplantar keratoderma-spastic paralysis syndrome"
          },
          {
            "code" : "2202",
            "display" : "Palmoplantar keratoderma-deafness syndrome"
          },
          {
            "code" : "220295",
            "display" : "Xeroderma pigmentosum-Cockayne syndrome complex"
          },
          {
            "code" : "2203",
            "display" : "Hyperlysinemia"
          },
          {
            "code" : "220386",
            "display" : "Semilobar holoprosencephaly"
          },
          {
            "code" : "220393",
            "display" : "Diffuse cutaneous systemic sclerosis"
          },
          {
            "code" : "2204",
            "display" : "Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type"
          },
          {
            "code" : "220402",
            "display" : "Limited cutaneous systemic sclerosis"
          },
          {
            "code" : "220407",
            "display" : "Limited systemic sclerosis"
          },
          {
            "code" : "220436",
            "display" : "Quebec platelet disorder"
          },
          {
            "code" : "220443",
            "display" : "Bleeding diathesis due to thromboxane synthesis deficiency"
          },
          {
            "code" : "220448",
            "display" : "Macrothrombocytopenia with mitral valve insufficiency"
          },
          {
            "code" : "220460",
            "display" : "Attenuated familial adenomatous polyposis"
          },
          {
            "code" : "220465",
            "display" : "Laron syndrome with immunodeficiency"
          },
          {
            "code" : "220493",
            "display" : "Joubert syndrome with ocular defect"
          },
          {
            "code" : "220497",
            "display" : "Joubert syndrome with renal defect"
          },
          {
            "code" : "2206",
            "display" : "Ankylosing vertebral hyperostosis with tylosis"
          },
          {
            "code" : "2209",
            "display" : "Maternal phenylketonuria"
          },
          {
            "code" : "221",
            "display" : "Dermatomyositis"
          },
          {
            "code" : "221008",
            "display" : "Rothmund-Thomson syndrome type 1"
          },
          {
            "code" : "221016",
            "display" : "Rothmund-Thomson syndrome type 2"
          },
          {
            "code" : "221039",
            "display" : "Hereditary sclerosing poikiloderma, Weary type"
          },
          {
            "code" : "221043",
            "display" : "Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome"
          },
          {
            "code" : "221046",
            "display" : "Poikiloderma with neutropenia"
          },
          {
            "code" : "221054",
            "display" : "Acrocephalopolydactyly"
          },
          {
            "code" : "221061",
            "display" : "Familial cerebral cavernous malformation"
          },
          {
            "code" : "221074",
            "display" : "Marchiafava-Bignami disease"
          },
          {
            "code" : "221078",
            "display" : "Combined hyperactive dysfunction syndrome of the cranial nerves"
          },
          {
            "code" : "221083",
            "display" : "Hemifacial spasm"
          },
          {
            "code" : "221091",
            "display" : "Trigeminal neuralgia"
          },
          {
            "code" : "221098",
            "display" : "Glossopharyngeal neuralgia"
          },
          {
            "code" : "2211",
            "display" : "Hypertelorism-hypospadias-polysyndactyly syndrome"
          },
          {
            "code" : "221117",
            "display" : "Gerstmann syndrome"
          },
          {
            "code" : "221120",
            "display" : "Pseudoaminopterin syndrome"
          },
          {
            "code" : "221126",
            "display" : "Fowler vasculopathy"
          },
          {
            "code" : "221139",
            "display" : "Combined immunodeficiency with facio-oculo-skeletal anomalies"
          },
          {
            "code" : "221142",
            "display" : "Confetti-like macular atrophy"
          },
          {
            "code" : "221145",
            "display" : "Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies"
          },
          {
            "code" : "2213",
            "display" : "Hypertelorism-microtia-facial clefting syndrome"
          },
          {
            "code" : "2215",
            "display" : "Multiple pterygium-malignant hyperthermia syndrome"
          },
          {
            "code" : "2216",
            "display" : "Maternal hyperthermia-induced birth defects"
          },
          {
            "code" : "2218",
            "display" : "Cervical hypertrichosis-peripheral neuropathy syndrome"
          },
          {
            "code" : "222",
            "display" : "Erosive pustular dermatosis of the scalp"
          },
          {
            "code" : "2220",
            "display" : "Hypertrichosis cubiti"
          },
          {
            "code" : "2221",
            "display" : "Acquired hypertrichosis lanuginosa"
          },
          {
            "code" : "2222",
            "display" : "Hypertrichosis lanuginosa congenita"
          },
          {
            "code" : "2224",
            "display" : "Hypertryptophanemia"
          },
          {
            "code" : "2228",
            "display" : "Hypodontia-dysplasia of nails syndrome"
          },
          {
            "code" : "2229",
            "display" : "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome"
          },
          {
            "code" : "223",
            "display" : "Nephrogenic diabetes insipidus"
          },
          {
            "code" : "2230",
            "display" : "Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome"
          },
          {
            "code" : "2232",
            "display" : "Primary hypergonadotropic hypogonadism-partial alopecia syndrome"
          },
          {
            "code" : "2233",
            "display" : "Hypogonadism-mitral valve prolapse-intellectual disability syndrome"
          },
          {
            "code" : "2234",
            "display" : "Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome"
          },
          {
            "code" : "2235",
            "display" : "Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome"
          },
          {
            "code" : "2237",
            "display" : "Hypoparathyroidism-sensorineural deafness-renal disease syndrome"
          },
          {
            "code" : "2238",
            "display" : "Familial isolated hypoparathyroidism"
          },
          {
            "code" : "2239",
            "display" : "Familial isolated hypoparathyroidism due to agenesis of parathyroid gland"
          },
          {
            "code" : "2241",
            "display" : "Megacystis-microcolon-intestinal hypoperistalsis syndrome"
          },
          {
            "code" : "2246",
            "display" : "Cerebellar hypoplasia-tapetoretinal degeneration syndrome"
          },
          {
            "code" : "2248",
            "display" : "Hypoplastic left heart syndrome"
          },
          {
            "code" : "2249",
            "display" : "Ulna hypoplasia-intellectual disability syndrome"
          },
          {
            "code" : "225",
            "display" : "Maternally-inherited diabetes and deafness"
          },
          {
            "code" : "2250",
            "display" : "Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome"
          },
          {
            "code" : "2251",
            "display" : "Thumb deformity-alopecia-pigmentation anomaly syndrome"
          },
          {
            "code" : "225123",
            "display" : "TFR2-related hemochromatosis"
          },
          {
            "code" : "225147",
            "display" : "Sporadic infantile bilateral striatal necrosis"
          },
          {
            "code" : "225154",
            "display" : "Familial infantile bilateral striatal necrosis"
          },
          {
            "code" : "2252",
            "display" : "Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome"
          },
          {
            "code" : "2253",
            "display" : "Foveal hypoplasia-presenile cataract syndrome"
          },
          {
            "code" : "2254",
            "display" : "Pontocerebellar hypoplasia type 1"
          },
          {
            "code" : "2255",
            "display" : "Pancreatic hypoplasia-diabetes-congenital heart disease syndrome"
          },
          {
            "code" : "2256",
            "display" : "Fibulo-ulnar hypoplasia-renal anomalies syndrome"
          },
          {
            "code" : "2257",
            "display" : "Primary pulmonary hypoplasia"
          },
          {
            "code" : "226",
            "display" : "Dihydropteridine reductase deficiency"
          },
          {
            "code" : "2260",
            "display" : "Oligomeganephronia"
          },
          {
            "code" : "2261",
            "display" : "Hypospadias-intellectual disability, Goldblatt type syndrome"
          },
          {
            "code" : "226307",
            "display" : "Hypothyroidism due to deficient transcription factors involved in pituitary development or function"
          },
          {
            "code" : "226313",
            "display" : "Congenital hypothyroidism due to maternal intake of antithyroid drugs"
          },
          {
            "code" : "226316",
            "display" : "Genetic transient congenital hypothyroidism"
          },
          {
            "code" : "2266",
            "display" : "Hypotrichosis-intellectual disability, Lopes type"
          },
          {
            "code" : "2268",
            "display" : "ICF syndrome"
          },
          {
            "code" : "2269",
            "display" : "Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome"
          },
          {
            "code" : "227",
            "display" : "Diphallia"
          },
          {
            "code" : "2271",
            "display" : "Congenital ichthyosis-microcephalus-tetraplegia syndrome"
          },
          {
            "code" : "2272",
            "display" : "Ichthyosis-oral and digital anomalies syndrome"
          },
          {
            "code" : "2273",
            "display" : "Ichthyosis follicularis-alopecia-photophobia syndrome"
          },
          {
            "code" : "2274",
            "display" : "Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome"
          },
          {
            "code" : "227510",
            "display" : "Multiple system atrophy, cerebellar type"
          },
          {
            "code" : "227535",
            "display" : "Hereditary breast cancer"
          },
          {
            "code" : "227796",
            "display" : "Fundus albipunctatus"
          },
          {
            "code" : "2278",
            "display" : "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome"
          },
          {
            "code" : "227972",
            "display" : "Toxic oil syndrome"
          },
          {
            "code" : "227976",
            "display" : "Autosomal recessive optic atrophy, OPA7 type"
          },
          {
            "code" : "227982",
            "display" : "Autoimmune polyendocrinopathy type 3"
          },
          {
            "code" : "227990",
            "display" : "Autoimmune polyendocrinopathy type 4"
          },
          {
            "code" : "228000",
            "display" : "Idiopathic CD4 lymphocytopenia"
          },
          {
            "code" : "228003",
            "display" : "Severe combined immunodeficiency due to CORO1A deficiency"
          },
          {
            "code" : "228012",
            "display" : "Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome"
          },
          {
            "code" : "228113",
            "display" : "Anal fistula"
          },
          {
            "code" : "228116",
            "display" : "Hughes-Stovin syndrome"
          },
          {
            "code" : "228119",
            "display" : "Fusariosis"
          },
          {
            "code" : "228123",
            "display" : "Coccidioidomycosis"
          },
          {
            "code" : "228140",
            "display" : "Idiopathic ventricular fibrillation, non Brugada type"
          },
          {
            "code" : "228157",
            "display" : "Marburg acute multiple sclerosis"
          },
          {
            "code" : "228165",
            "display" : "Baló concentric sclerosis"
          },
          {
            "code" : "228169",
            "display" : "Autosomal dominant striatal neurodegeneration"
          },
          {
            "code" : "228174",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2N"
          },
          {
            "code" : "228179",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2M"
          },
          {
            "code" : "228190",
            "display" : "Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome"
          },
          {
            "code" : "2282",
            "display" : "Dysmorphism-short stature-deafness-difference of sex development syndrome"
          },
          {
            "code" : "228227",
            "display" : "Late-onset focal dermal elastosis"
          },
          {
            "code" : "228236",
            "display" : "Linear focal elastosis"
          },
          {
            "code" : "228240",
            "display" : "Elastoderma"
          },
          {
            "code" : "228243",
            "display" : "Elastofibroma dorsi"
          },
          {
            "code" : "228247",
            "display" : "Acquired pseudoxanthoma elasticum"
          },
          {
            "code" : "228254",
            "display" : "Elastoma"
          },
          {
            "code" : "228264",
            "display" : "Papular elastorrhexis"
          },
          {
            "code" : "228272",
            "display" : "Primary anetoderma"
          },
          {
            "code" : "228277",
            "display" : "Familial anetoderma"
          },
          {
            "code" : "228285",
            "display" : "Acquired cutis laxa"
          },
          {
            "code" : "228290",
            "display" : "White fibrous papulosis of the neck"
          },
          {
            "code" : "228293",
            "display" : "Pseudoxanthoma elasticum-like papillary dermal elastolysis"
          },
          {
            "code" : "228299",
            "display" : "Mid-dermal elastolysis"
          },
          {
            "code" : "228302",
            "display" : "Carnitine palmitoyl transferase II deficiency, myopathic form"
          },
          {
            "code" : "228305",
            "display" : "Carnitine palmitoyl transferase II deficiency, severe infantile form"
          },
          {
            "code" : "228308",
            "display" : "Carnitine palmitoyl transferase II deficiency, neonatal form"
          },
          {
            "code" : "228329",
            "display" : "CLN1 disease"
          },
          {
            "code" : "228337",
            "display" : "CLN10 disease"
          },
          {
            "code" : "228340",
            "display" : "CLN4A disease"
          },
          {
            "code" : "228343",
            "display" : "CLN4B disease"
          },
          {
            "code" : "228346",
            "display" : "CLN3 disease"
          },
          {
            "code" : "228349",
            "display" : "CLN2 disease"
          },
          {
            "code" : "228354",
            "display" : "CLN8 disease"
          },
          {
            "code" : "228357",
            "display" : "CLN9 disease"
          },
          {
            "code" : "228360",
            "display" : "CLN5 disease"
          },
          {
            "code" : "228363",
            "display" : "CLN6 disease"
          },
          {
            "code" : "228366",
            "display" : "CLN7 disease"
          },
          {
            "code" : "228371",
            "display" : "Foodborne botulism"
          },
          {
            "code" : "228374",
            "display" : "Charcot-Marie-Tooth disease type 2B5"
          },
          {
            "code" : "228379",
            "display" : "Virus-associated trichodysplasia spinulosa"
          },
          {
            "code" : "228384",
            "display" : "5q14.3 microdeletion syndrome"
          },
          {
            "code" : "228387",
            "display" : "Spondylo-megaepiphyseal-metaphyseal dysplasia"
          },
          {
            "code" : "228390",
            "display" : "Frontonasal dysplasia-alopecia-genital anomalies syndrome"
          },
          {
            "code" : "228396",
            "display" : "Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome"
          },
          {
            "code" : "228399",
            "display" : "8q12 microduplication syndrome"
          },
          {
            "code" : "228402",
            "display" : "2q23.1 microdeletion syndrome"
          },
          {
            "code" : "228410",
            "display" : "Polyvalvular heart disease syndrome"
          },
          {
            "code" : "228415",
            "display" : "5q35 microduplication syndrome"
          },
          {
            "code" : "228423",
            "display" : "Monocytopenia with susceptibility to infections"
          },
          {
            "code" : "228426",
            "display" : "Syndromic multisystem autoimmune disease due to Itch deficiency"
          },
          {
            "code" : "2285",
            "display" : "Primary basilar invagination"
          },
          {
            "code" : "2287",
            "display" : "Fused mandibular incisors"
          },
          {
            "code" : "2289",
            "display" : "Neuronal intranuclear inclusion disease"
          },
          {
            "code" : "229",
            "display" : "Familial aortic dissection"
          },
          {
            "code" : "2290",
            "display" : "Microvillus inclusion disease"
          },
          {
            "code" : "2291",
            "display" : "Congenital velopharyngeal incompetence"
          },
          {
            "code" : "2295",
            "display" : "Familial articular hypermobility syndrome"
          },
          {
            "code" : "2297",
            "display" : "Insulin-resistance syndrome type A"
          },
          {
            "code" : "229717",
            "display" : "Isolated agammaglobulinemia"
          },
          {
            "code" : "2298",
            "display" : "Insulin-resistance syndrome type B"
          },
          {
            "code" : "2299",
            "display" : "Aortic arch interruption"
          },
          {
            "code" : "23",
            "display" : "Argininosuccinic aciduria"
          },
          {
            "code" : "230",
            "display" : "Dopamine beta-hydroxylase deficiency"
          },
          {
            "code" : "2300",
            "display" : "Multiple intestinal atresia"
          },
          {
            "code" : "2301",
            "display" : "Congenital short bowel syndrome"
          },
          {
            "code" : "2302",
            "display" : "Asbestos intoxication"
          },
          {
            "code" : "2305",
            "display" : "Isotretinoin syndrome"
          },
          {
            "code" : "2306",
            "display" : "Isotretinoin-like syndrome"
          },
          {
            "code" : "2307",
            "display" : "IVIC syndrome"
          },
          {
            "code" : "2308",
            "display" : "Jacobsen syndrome"
          },
          {
            "code" : "230800",
            "display" : "Toxin-mediated infectious botulism"
          },
          {
            "code" : "230839",
            "display" : "Classical-like Ehlers-Danlos syndrome type 1"
          },
          {
            "code" : "230851",
            "display" : "Cardiac-valvular Ehlers-Danlos syndrome"
          },
          {
            "code" : "230857",
            "display" : "Ehlers-Danlos/osteogenesis imperfecta syndrome"
          },
          {
            "code" : "2309",
            "display" : "Pachyonychia congenita"
          },
          {
            "code" : "231",
            "display" : "Dracunculiasis"
          },
          {
            "code" : "2310",
            "display" : "Absence deformity of leg-cataract syndrome"
          },
          {
            "code" : "231013",
            "display" : "Congenital trigeminal anesthesia"
          },
          {
            "code" : "231031",
            "display" : "Erythema palmare hereditarium"
          },
          {
            "code" : "231040",
            "display" : "Familial generalized lentiginosis"
          },
          {
            "code" : "231080",
            "display" : "High-grade dysplasia in patients with Barrett esophagus"
          },
          {
            "code" : "2311",
            "display" : "Autosomal recessive spondylocostal dysostosis"
          },
          {
            "code" : "231108",
            "display" : "Rhabdoid tumor predisposition syndrome"
          },
          {
            "code" : "231111",
            "display" : "Drug-induced lupus erythematosus"
          },
          {
            "code" : "231117",
            "display" : "Beckwith-Wiedemann syndrome due to imprinting defect of 11p15"
          },
          {
            "code" : "231120",
            "display" : "Beckwith-Wiedemann syndrome due to CDKN1C mutation"
          },
          {
            "code" : "231127",
            "display" : "Beckwith-Wiedemann syndrome due to 11p15 microdeletion"
          },
          {
            "code" : "231130",
            "display" : "Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion"
          },
          {
            "code" : "231137",
            "display" : "Silver-Russell syndrome due to 7p11.2p13 microduplication"
          },
          {
            "code" : "231140",
            "display" : "Silver-Russell syndrome due to an imprinting defect of 11p15"
          },
          {
            "code" : "231144",
            "display" : "Silver-Russell syndrome due to 11p15 microduplication"
          },
          {
            "code" : "231147",
            "display" : "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11"
          },
          {
            "code" : "231154",
            "display" : "Combined immunodeficiency due to partial RAG1 deficiency"
          },
          {
            "code" : "231160",
            "display" : "Familial cerebral saccular aneurysm"
          },
          {
            "code" : "231169",
            "display" : "Usher syndrome type 1"
          },
          {
            "code" : "231178",
            "display" : "Usher syndrome type 2"
          },
          {
            "code" : "231183",
            "display" : "Usher syndrome type 3"
          },
          {
            "code" : "2312",
            "display" : "Transient familial neonatal hyperbilirubinemia"
          },
          {
            "code" : "231214",
            "display" : "Beta-thalassemia major"
          },
          {
            "code" : "231222",
            "display" : "Beta-thalassemia intermedia"
          },
          {
            "code" : "231226",
            "display" : "Dominant beta-thalassemia"
          },
          {
            "code" : "231237",
            "display" : "Delta-beta-thalassemia"
          },
          {
            "code" : "231242",
            "display" : "Hemoglobin C-beta-thalassemia syndrome"
          },
          {
            "code" : "231249",
            "display" : "Hemoglobin E-beta-thalassemia syndrome"
          },
          {
            "code" : "231393",
            "display" : "Beta-thalassemia-X-linked thrombocytopenia syndrome"
          },
          {
            "code" : "2314",
            "display" : "Autosomal dominant hyper-IgE syndrome"
          },
          {
            "code" : "231401",
            "display" : "Alpha-thalassemia-myelodysplastic syndrome"
          },
          {
            "code" : "231426",
            "display" : "Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome"
          },
          {
            "code" : "231445",
            "display" : "Paraparetic variant of Guillain-Barré syndrome"
          },
          {
            "code" : "231450",
            "display" : "Acute pure sensory neuropathy"
          },
          {
            "code" : "231457",
            "display" : "Acute pandysautonomia"
          },
          {
            "code" : "231466",
            "display" : "Acute sensory ataxic neuropathy"
          },
          {
            "code" : "2315",
            "display" : "Johanson-Blizzard syndrome"
          },
          {
            "code" : "231500",
            "display" : "Hermansky-Pudlak syndrome due to BLOC-3 deficiency"
          },
          {
            "code" : "231512",
            "display" : "Hermansky-Pudlak syndrome due to BLOC-2 deficiency"
          },
          {
            "code" : "231531",
            "display" : "Hermansky-Pudlak syndrome due to BLOC-1 deficiency"
          },
          {
            "code" : "231556",
            "display" : "Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome"
          },
          {
            "code" : "231568",
            "display" : "Autosomal dominant generalized dystrophic epidermolysis bullosa"
          },
          {
            "code" : "231573",
            "display" : "Congenital erosive and vesicular dermatosis"
          },
          {
            "code" : "231580",
            "display" : "Primary unilateral adrenal hyperplasia"
          },
          {
            "code" : "2316",
            "display" : "Johnson neuroectodermal syndrome"
          },
          {
            "code" : "231625",
            "display" : "Adrenocortical carcinoma with pure aldosterone hypersecretion"
          },
          {
            "code" : "231632",
            "display" : "Ectopic aldosterone-producing tumor"
          },
          {
            "code" : "231662",
            "display" : "Isolated growth hormone deficiency type IA"
          },
          {
            "code" : "231671",
            "display" : "Isolated growth hormone deficiency type IB"
          },
          {
            "code" : "231679",
            "display" : "Isolated growth hormone deficiency type II"
          },
          {
            "code" : "231692",
            "display" : "Isolated growth hormone deficiency type III"
          },
          {
            "code" : "231720",
            "display" : "Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome"
          },
          {
            "code" : "231736",
            "display" : "Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome"
          },
          {
            "code" : "231742",
            "display" : "Epibulbar lipodermoid-preauricular appendage-polythelia syndrome"
          },
          {
            "code" : "2318",
            "display" : "Joubert syndrome with oculorenal defect"
          },
          {
            "code" : "2319",
            "display" : "Juberg-Hayward syndrome"
          },
          {
            "code" : "232",
            "display" : "Sickle cell anemia"
          },
          {
            "code" : "2321",
            "display" : "Jung syndrome"
          },
          {
            "code" : "2322",
            "display" : "Kabuki syndrome"
          },
          {
            "code" : "2323",
            "display" : "Sanjad-Sakati syndrome"
          },
          {
            "code" : "2324",
            "display" : "Osteopenia-intellectual disability-sparse hair syndrome"
          },
          {
            "code" : "2325",
            "display" : "Epidermolysis bullosa simplex with anodontia/hypodontia"
          },
          {
            "code" : "2326",
            "display" : "Kallmann syndrome-heart disease syndrome"
          },
          {
            "code" : "2328",
            "display" : "Kapur-Toriello syndrome"
          },
          {
            "code" : "2329",
            "display" : "Karsch-Neugebauer syndrome"
          },
          {
            "code" : "233",
            "display" : "Duane retraction syndrome"
          },
          {
            "code" : "2330",
            "display" : "Kasabach-Merritt syndrome"
          },
          {
            "code" : "2331",
            "display" : "Kawasaki disease"
          },
          {
            "code" : "2332",
            "display" : "KBG syndrome"
          },
          {
            "code" : "2333",
            "display" : "Kenny-Caffey syndrome"
          },
          {
            "code" : "2334",
            "display" : "Autosomal dominant keratitis"
          },
          {
            "code" : "2337",
            "display" : "Non-epidermolytic palmoplantar keratoderma"
          },
          {
            "code" : "2339",
            "display" : "Keratosis follicularis-dwarfism-cerebral atrophy syndrome"
          },
          {
            "code" : "234",
            "display" : "Dubin-Johnson syndrome"
          },
          {
            "code" : "2340",
            "display" : "Keratosis follicularis spinulosa decalvans"
          },
          {
            "code" : "2342",
            "display" : "Haim-Munk syndrome"
          },
          {
            "code" : "2345",
            "display" : "Isolated Klippel-Feil syndrome"
          },
          {
            "code" : "2347",
            "display" : "Lethal Kniest-like dysplasia"
          },
          {
            "code" : "2348",
            "display" : "Familial partial lipodystrophy, Dunnigan type"
          },
          {
            "code" : "2349",
            "display" : "Muscular pseudohypertrophy-hypothyroidism syndrome"
          },
          {
            "code" : "235",
            "display" : "Dubowitz syndrome"
          },
          {
            "code" : "2351",
            "display" : "Kousseff syndrome"
          },
          {
            "code" : "2353",
            "display" : "Schilbach-Rott syndrome"
          },
          {
            "code" : "2356",
            "display" : "Arachnoid cyst"
          },
          {
            "code" : "2357",
            "display" : "Bronchogenic cyst"
          },
          {
            "code" : "236",
            "display" : "Trisomy 9p"
          },
          {
            "code" : "2363",
            "display" : "Lacrimoauriculodentodigital syndrome"
          },
          {
            "code" : "2364",
            "display" : "Glycogen storage disease due to lactate dehydrogenase deficiency"
          },
          {
            "code" : "2368",
            "display" : "Gastroschisis"
          },
          {
            "code" : "2369",
            "display" : "Limb body wall complex"
          },
          {
            "code" : "237",
            "display" : "Duplication of urethra"
          },
          {
            "code" : "2370",
            "display" : "Larsen-like osseous dysplasia-short stature syndrome"
          },
          {
            "code" : "2371",
            "display" : "Lethal Larsen-like syndrome"
          },
          {
            "code" : "2372",
            "display" : "Laryngocele"
          },
          {
            "code" : "2373",
            "display" : "Congenital laryngomalacia"
          },
          {
            "code" : "2374",
            "display" : "Congenital laryngeal web"
          },
          {
            "code" : "2375",
            "display" : "Laryngeal abductor paralysis-intellectual disability syndrome"
          },
          {
            "code" : "2377",
            "display" : "Laurence-Moon syndrome"
          },
          {
            "code" : "2378",
            "display" : "Laurin-Sandrow syndrome"
          },
          {
            "code" : "2379",
            "display" : "Early-onset parkinsonism-intellectual disability syndrome"
          },
          {
            "code" : "238",
            "display" : "Digestive duplication"
          },
          {
            "code" : "2380",
            "display" : "Legg-Calvé-Perthes disease"
          },
          {
            "code" : "2382",
            "display" : "Lennox-Gastaut syndrome"
          },
          {
            "code" : "238269",
            "display" : "AApoAII amyloidosis"
          },
          {
            "code" : "238305",
            "display" : "Infundibulo-neurohypophysitis"
          },
          {
            "code" : "238329",
            "display" : "Severe X-linked mitochondrial encephalomyopathy"
          },
          {
            "code" : "238446",
            "display" : "15q11q13 microduplication syndrome"
          },
          {
            "code" : "238455",
            "display" : "Infantile dystonia-parkinsonism"
          },
          {
            "code" : "238459",
            "display" : "SLC35A1-CDG"
          },
          {
            "code" : "238468",
            "display" : "Hypohidrotic ectodermal dysplasia"
          },
          {
            "code" : "238475",
            "display" : "Familial hypercholanemia"
          },
          {
            "code" : "238505",
            "display" : "Combined immunodeficiency due to CD27 deficiency"
          },
          {
            "code" : "238523",
            "display" : "Atypical hypotonia-cystinuria syndrome"
          },
          {
            "code" : "238557",
            "display" : "Chuvash erythrocytosis"
          },
          {
            "code" : "238569",
            "display" : "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome"
          },
          {
            "code" : "238578",
            "display" : "Familial clubfoot due to 17q23.1q23.2 microduplication"
          },
          {
            "code" : "238583",
            "display" : "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency"
          },
          {
            "code" : "238593",
            "display" : "IgG4-related mesenteritis"
          },
          {
            "code" : "2386",
            "display" : "Leukoencephalopathy-palmoplantar keratoderma syndrome"
          },
          {
            "code" : "238606",
            "display" : "Primary orthostatic tremor"
          },
          {
            "code" : "238613",
            "display" : "Beckwith-Wiedemann syndrome due to NSD1 mutation"
          },
          {
            "code" : "238621",
            "display" : "Ileal pouch anal anastomosis related faecal incontinence"
          },
          {
            "code" : "238624",
            "display" : "Idiopathic intracranial hypertension"
          },
          {
            "code" : "238637",
            "display" : "Megacystis-megaureter syndrome"
          },
          {
            "code" : "238642",
            "display" : "Primary megaureter, adult-onset form"
          },
          {
            "code" : "238646",
            "display" : "Congenital primary megaureter, obstructed form"
          },
          {
            "code" : "238650",
            "display" : "Congenital primary megaureter, refluxing form"
          },
          {
            "code" : "238654",
            "display" : "Congenital primary megaureter, nonrefluxing and unobstructed form"
          },
          {
            "code" : "238666",
            "display" : "Isolated congenital hypogonadotropic hypogonadism"
          },
          {
            "code" : "238670",
            "display" : "Isolated thyrotropin-releasing hormone deficiency"
          },
          {
            "code" : "238688",
            "display" : "Neonatal iodine exposure"
          },
          {
            "code" : "2387",
            "display" : "Leukonychia totalis"
          },
          {
            "code" : "238722",
            "display" : "Familial congenital mirror movements"
          },
          {
            "code" : "238744",
            "display" : "Mammary-digital-nail syndrome"
          },
          {
            "code" : "238750",
            "display" : "4q21 microdeletion syndrome"
          },
          {
            "code" : "238763",
            "display" : "Glaucoma secondary to spherophakia/ectopia lentis and megalocornea"
          },
          {
            "code" : "238769",
            "display" : "1q44 microdeletion syndrome"
          },
          {
            "code" : "2388",
            "display" : "Choreoacanthocytosis"
          },
          {
            "code" : "239",
            "display" : "Dyggve-Melchior-Clausen disease"
          },
          {
            "code" : "2390",
            "display" : "Lichtenstein syndrome"
          },
          {
            "code" : "2391",
            "display" : "Congenitally short costocoracoid ligament"
          },
          {
            "code" : "2394",
            "display" : "Pyruvate dehydrogenase E3 deficiency"
          },
          {
            "code" : "2396",
            "display" : "Encephalocraniocutaneous lipomatosis"
          },
          {
            "code" : "2398",
            "display" : "Multiple symmetric lipomatosis"
          },
          {
            "code" : "2399",
            "display" : "Nasopalpebral lipoma-coloboma syndrome"
          },
          {
            "code" : "24",
            "display" : "Fumaric aciduria"
          },
          {
            "code" : "240",
            "display" : "Léri-Weill dyschondrosteosis"
          },
          {
            "code" : "2400",
            "display" : "Peripheral motor neuropathy-dysautonomia syndrome"
          },
          {
            "code" : "240071",
            "display" : "Classic progressive supranuclear palsy syndrome"
          },
          {
            "code" : "240085",
            "display" : "Progressive supranuclear palsy-parkinsonism syndrome"
          },
          {
            "code" : "240094",
            "display" : "Progressive supranuclear palsy-pure akinesia with gait freezing syndrome"
          },
          {
            "code" : "240103",
            "display" : "Progressive supranuclear palsy-corticobasal syndrome"
          },
          {
            "code" : "240112",
            "display" : "Progressive supranuclear palsy-progressive non-fluent aphasia syndrome"
          },
          {
            "code" : "2404",
            "display" : "Loiasis"
          },
          {
            "code" : "2405",
            "display" : "Thickened earlobes-conductive deafness syndrome"
          },
          {
            "code" : "2406",
            "display" : "Locked-in syndrome"
          },
          {
            "code" : "2407",
            "display" : "Laryngo-onycho-cutaneous syndrome"
          },
          {
            "code" : "240760",
            "display" : "Nijmegen breakage syndrome-like disorder"
          },
          {
            "code" : "2408",
            "display" : "Lowe-Kohn-Cohen syndrome"
          },
          {
            "code" : "2409",
            "display" : "Lowry-MacLean syndrome"
          },
          {
            "code" : "241",
            "display" : "Dyschromatosis universalis hereditaria"
          },
          {
            "code" : "2410",
            "display" : "Hypergonadotropic hypogonadism-cataract syndrome"
          },
          {
            "code" : "2412",
            "display" : "Dislocation of the hip-dysmorphism syndrome"
          },
          {
            "code" : "2414",
            "display" : "Congenital pulmonary lymphangiectasia"
          },
          {
            "code" : "242",
            "display" : "46,XY complete gonadal dysgenesis"
          },
          {
            "code" : "2420",
            "display" : "Primary pulmonary lymphoma"
          },
          {
            "code" : "2427",
            "display" : "Macrocephaly-short stature-paraplegia syndrome"
          },
          {
            "code" : "2429",
            "display" : "Macrocephaly-spastic paraplegia-dysmorphism syndrome"
          },
          {
            "code" : "243",
            "display" : "46,XX gonadal dysgenesis"
          },
          {
            "code" : "2430",
            "display" : "Congenital macroglossia"
          },
          {
            "code" : "2432",
            "display" : "Macrosomia-microphthalmia-cleft palate syndrome"
          },
          {
            "code" : "243343",
            "display" : "Dimethylglycine dehydrogenase deficiency"
          },
          {
            "code" : "243367",
            "display" : "Acute fatty liver of pregnancy"
          },
          {
            "code" : "2435",
            "display" : "Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome"
          },
          {
            "code" : "2437",
            "display" : "Czeizel-Losonci syndrome"
          },
          {
            "code" : "2438",
            "display" : "Hand-foot-genital syndrome"
          },
          {
            "code" : "2439",
            "display" : "Patterson-Stevenson-Fontaine syndrome"
          },
          {
            "code" : "244",
            "display" : "Primary ciliary dyskinesia"
          },
          {
            "code" : "2440",
            "display" : "Isolated split hand-split foot malformation"
          },
          {
            "code" : "244242",
            "display" : "HELLP syndrome"
          },
          {
            "code" : "244275",
            "display" : "De novo thrombotic microangiopathy after kidney transplantation"
          },
          {
            "code" : "244283",
            "display" : "Biliary atresia with splenic malformation syndrome"
          },
          {
            "code" : "244305",
            "display" : "Dominant hypophosphatemia with nephrolithiasis or osteoporosis"
          },
          {
            "code" : "244310",
            "display" : "RFT1-CDG"
          },
          {
            "code" : "2444",
            "display" : "Congenital pulmonary airway malformation"
          },
          {
            "code" : "245",
            "display" : "Nager syndrome"
          },
          {
            "code" : "2451",
            "display" : "Mucocutaneous venous malformations"
          },
          {
            "code" : "2456",
            "display" : "Familial supernumerary nipples"
          },
          {
            "code" : "2457",
            "display" : "Mandibuloacral dysplasia"
          },
          {
            "code" : "2459",
            "display" : "Mansonelliasis"
          },
          {
            "code" : "246",
            "display" : "Postaxial acrofacial dysostosis"
          },
          {
            "code" : "2460",
            "display" : "Van den Ende-Gupta syndrome"
          },
          {
            "code" : "2461",
            "display" : "Marden-Walker syndrome"
          },
          {
            "code" : "2462",
            "display" : "Shprintzen-Goldberg syndrome"
          },
          {
            "code" : "2463",
            "display" : "Marfanoid habitus-autosomal recessive intellectual disability syndrome"
          },
          {
            "code" : "2464",
            "display" : "Marfanoid syndrome, De Silva type"
          },
          {
            "code" : "2466",
            "display" : "MASA syndrome"
          },
          {
            "code" : "2470",
            "display" : "Matthew-Wood syndrome"
          },
          {
            "code" : "2471",
            "display" : "McDonough syndrome"
          },
          {
            "code" : "247165",
            "display" : "Infantile mercury poisoning"
          },
          {
            "code" : "247198",
            "display" : "Progressive cerebello-cerebral atrophy"
          },
          {
            "code" : "247203",
            "display" : "Collecting duct carcinoma"
          },
          {
            "code" : "247234",
            "display" : "Sporadic adult-onset ataxia of unknown etiology"
          },
          {
            "code" : "247245",
            "display" : "Superficial siderosis"
          },
          {
            "code" : "247257",
            "display" : "Inhalational anthrax"
          },
          {
            "code" : "247262",
            "display" : "Hyperphosphatasia-intellectual disability syndrome"
          },
          {
            "code" : "2473",
            "display" : "McKusick-Kaufman syndrome"
          },
          {
            "code" : "247353",
            "display" : "Generalized pustular psoriasis"
          },
          {
            "code" : "247378",
            "display" : "Autosomal recessive secondary polycythemia not associated with VHL gene"
          },
          {
            "code" : "2475",
            "display" : "White forelock with malformations"
          },
          {
            "code" : "247511",
            "display" : "Autosomal dominant secondary polycythemia"
          },
          {
            "code" : "247522",
            "display" : "Primary ciliary dyskinesia-retinitis pigmentosa syndrome"
          },
          {
            "code" : "247525",
            "display" : "Citrullinemia type I"
          },
          {
            "code" : "247546",
            "display" : "Acute neonatal citrullinemia type I"
          },
          {
            "code" : "247573",
            "display" : "Late-onset citrullinemia type I"
          },
          {
            "code" : "247585",
            "display" : "Citrullinemia type II"
          },
          {
            "code" : "247598",
            "display" : "Neonatal intrahepatic cholestasis due to citrin deficiency"
          },
          {
            "code" : "2476",
            "display" : "Dysraphism-cleft lip/palate-limb reduction defects syndrome"
          },
          {
            "code" : "247604",
            "display" : "Juvenile primary lateral sclerosis"
          },
          {
            "code" : "247623",
            "display" : "Perinatal lethal hypophosphatasia"
          },
          {
            "code" : "247638",
            "display" : "Prenatal benign hypophosphatasia"
          },
          {
            "code" : "247651",
            "display" : "Infantile hypophosphatasia"
          },
          {
            "code" : "247667",
            "display" : "Childhood-onset hypophosphatasia"
          },
          {
            "code" : "247676",
            "display" : "Adult hypophosphatasia"
          },
          {
            "code" : "247685",
            "display" : "Odontohypophosphatasia"
          },
          {
            "code" : "247691",
            "display" : "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"
          },
          {
            "code" : "247698",
            "display" : "Multiple endocrine neoplasia type 2A"
          },
          {
            "code" : "2477",
            "display" : "Megalencephaly"
          },
          {
            "code" : "247709",
            "display" : "Multiple endocrine neoplasia type 2B"
          },
          {
            "code" : "247718",
            "display" : "Inflammatory myopathy with abundant macrophages"
          },
          {
            "code" : "247724",
            "display" : "Idiopathic eosinophilic myositis"
          },
          {
            "code" : "247762",
            "display" : "Lipoblastoma"
          },
          {
            "code" : "247768",
            "display" : "Müllerian aplasia and hyperandrogenism"
          },
          {
            "code" : "247775",
            "display" : "Mayer-Rokitansky-Küster-Hauser syndrome type 1"
          },
          {
            "code" : "247790",
            "display" : "FTH1-related iron overload"
          },
          {
            "code" : "247794",
            "display" : "Juvenile cataract-microcornea-renal glucosuria syndrome"
          },
          {
            "code" : "247798",
            "display" : "MUTYH-related attenuated familial adenomatous polyposis"
          },
          {
            "code" : "2478",
            "display" : "Megalencephalic leukoencephalopathy with subcortical cysts"
          },
          {
            "code" : "247806",
            "display" : "APC-related attenuated familial adenomatous polyposis"
          },
          {
            "code" : "247815",
            "display" : "Autosomal recessive ataxia due to PEX10 deficiency"
          },
          {
            "code" : "247820",
            "display" : "Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome"
          },
          {
            "code" : "247827",
            "display" : "Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome"
          },
          {
            "code" : "247834",
            "display" : "Occult macular dystrophy"
          },
          {
            "code" : "247868",
            "display" : "NLRP12-associated hereditary periodic fever syndrome"
          },
          {
            "code" : "2479",
            "display" : "Megalocornea-intellectual disability syndrome"
          },
          {
            "code" : "248",
            "display" : "Autosomal recessive hypohidrotic ectodermal dysplasia"
          },
          {
            "code" : "2481",
            "display" : "Neurocutaneous melanocytosis"
          },
          {
            "code" : "248111",
            "display" : "Juvenile Huntington disease"
          },
          {
            "code" : "2482",
            "display" : "Melhem-Fahl syndrome"
          },
          {
            "code" : "2483",
            "display" : "Melkersson-Rosenthal syndrome"
          },
          {
            "code" : "248340",
            "display" : "Isolated delta-storage pool disease"
          },
          {
            "code" : "2484",
            "display" : "Melnick-Needles syndrome"
          },
          {
            "code" : "248408",
            "display" : "Familial hypodysfibrinogenemia"
          },
          {
            "code" : "2485",
            "display" : "Melorheostosis"
          },
          {
            "code" : "2487",
            "display" : "Lower limb malformation-hypospadias syndrome"
          },
          {
            "code" : "2489",
            "display" : "Upper limb defect-eye and ear abnormalities syndrome"
          },
          {
            "code" : "249",
            "display" : "Fibrous dysplasia of bone"
          },
          {
            "code" : "2491",
            "display" : "Müllerian duct anomalies-limb anomalies syndrome"
          },
          {
            "code" : "2492",
            "display" : "FATCO syndrome"
          },
          {
            "code" : "2494",
            "display" : "Ménétrier disease"
          },
          {
            "code" : "2495",
            "display" : "Meningioma"
          },
          {
            "code" : "2496",
            "display" : "Mesomelia-synostoses syndrome"
          },
          {
            "code" : "2497",
            "display" : "Upper limb mesomelic dysplasia"
          },
          {
            "code" : "2498",
            "display" : "Syndactyly type 8"
          },
          {
            "code" : "2499",
            "display" : "Metachondromatosis"
          },
          {
            "code" : "25",
            "display" : "Glutaryl-CoA dehydrogenase deficiency"
          },
          {
            "code" : "2500",
            "display" : "Acrogeria"
          },
          {
            "code" : "2501",
            "display" : "Metaphyseal chondrodysplasia, Spahr type"
          },
          {
            "code" : "2502",
            "display" : "Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome"
          },
          {
            "code" : "2504",
            "display" : "Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"
          },
          {
            "code" : "2505",
            "display" : "Multiple benign circumferential skin creases on limbs"
          },
          {
            "code" : "2508",
            "display" : "Corpus callosum agenesis-abnormal genitalia syndrome"
          },
          {
            "code" : "250831",
            "display" : "Logopenic progressive aphasia"
          },
          {
            "code" : "250923",
            "display" : "Isolated aniridia"
          },
          {
            "code" : "250932",
            "display" : "Autosomal dominant optic atrophy and peripheral neuropathy"
          },
          {
            "code" : "250972",
            "display" : "Polymicrogyria with optic nerve hypoplasia"
          },
          {
            "code" : "250977",
            "display" : "AICA-ribosiduria"
          },
          {
            "code" : "250984",
            "display" : "Autosomal recessive Stickler syndrome"
          },
          {
            "code" : "250989",
            "display" : "1q21.1 microdeletion syndrome"
          },
          {
            "code" : "250994",
            "display" : "1q21.1 microduplication syndrome"
          },
          {
            "code" : "250999",
            "display" : "1q41q42 microdeletion syndrome"
          },
          {
            "code" : "2510",
            "display" : "Micro syndrome"
          },
          {
            "code" : "251004",
            "display" : "Paternal uniparental disomy of chromosome 1"
          },
          {
            "code" : "251009",
            "display" : "Maternal uniparental disomy of chromosome 1"
          },
          {
            "code" : "251014",
            "display" : "2q31.1 microdeletion syndrome"
          },
          {
            "code" : "251019",
            "display" : "2q32q33 microdeletion syndrome"
          },
          {
            "code" : "251028",
            "display" : "SATB2-associated syndrome due to a chromosomal rearrangement"
          },
          {
            "code" : "251038",
            "display" : "3q29 microduplication syndrome"
          },
          {
            "code" : "251043",
            "display" : "Ring chromosome 5 syndrome"
          },
          {
            "code" : "251046",
            "display" : "6p22 microdeletion syndrome"
          },
          {
            "code" : "251056",
            "display" : "6q25 microdeletion syndrome"
          },
          {
            "code" : "251061",
            "display" : "7q31 microdeletion syndrome"
          },
          {
            "code" : "251066",
            "display" : "8p11.2 deletion syndrome"
          },
          {
            "code" : "251071",
            "display" : "8p23.1 microdeletion syndrome"
          },
          {
            "code" : "251076",
            "display" : "8p23.1 duplication syndrome"
          },
          {
            "code" : "2511",
            "display" : "Microbrachycephaly-ptosis-cleft lip syndrome"
          },
          {
            "code" : "2512",
            "display" : "Autosomal recessive primary microcephaly"
          },
          {
            "code" : "251262",
            "display" : "Familial osteochondritis dissecans"
          },
          {
            "code" : "251274",
            "display" : "Familial hyperaldosteronism type III"
          },
          {
            "code" : "251279",
            "display" : "Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome"
          },
          {
            "code" : "251282",
            "display" : "Autosomal dominant spastic ataxia type 1"
          },
          {
            "code" : "251287",
            "display" : "Benign concentric annular macular dystrophy"
          },
          {
            "code" : "251290",
            "display" : "Parietal foramina with clavicular hypoplasia"
          },
          {
            "code" : "251295",
            "display" : "Pigmented paravenous retinochoroidal atrophy"
          },
          {
            "code" : "2513",
            "display" : "Microcephaly-albinism-digital anomalies syndrome"
          },
          {
            "code" : "251304",
            "display" : "Infantile onset panniculitis with uveitis and systemic granulomatosis"
          },
          {
            "code" : "251307",
            "display" : "Idiopathic recurrent pericarditis"
          },
          {
            "code" : "251325",
            "display" : "Drug-induced vasculitis"
          },
          {
            "code" : "251328",
            "display" : "Unclassified vasculitis"
          },
          {
            "code" : "251332",
            "display" : "Unexplained long-lasting fever/inflammatory syndrome"
          },
          {
            "code" : "251347",
            "display" : "Ataxia-telangiectasia-like disorder"
          },
          {
            "code" : "251359",
            "display" : "Sickle cell-beta-thalassemia disease syndrome"
          },
          {
            "code" : "251365",
            "display" : "Sickle cell-hemoglobin C disease syndrome"
          },
          {
            "code" : "251370",
            "display" : "Sickle cell-hemoglobin D disease syndrome"
          },
          {
            "code" : "251375",
            "display" : "Sickle cell-hemoglobin E disease syndrome"
          },
          {
            "code" : "251380",
            "display" : "Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome"
          },
          {
            "code" : "251383",
            "display" : "CK syndrome"
          },
          {
            "code" : "251393",
            "display" : "Localized junctional epidermolysis bullosa"
          },
          {
            "code" : "2514",
            "display" : "Autosomal dominant primary microcephaly"
          },
          {
            "code" : "2515",
            "display" : "Microcephaly-cardiomyopathy syndrome"
          },
          {
            "code" : "251510",
            "display" : "46,XY partial gonadal dysgenesis"
          },
          {
            "code" : "251515",
            "display" : "Distal arthrogryposis type 10"
          },
          {
            "code" : "251523",
            "display" : "Hyperzincemia and hypercalprotectinemia"
          },
          {
            "code" : "251576",
            "display" : "Gliosarcoma"
          },
          {
            "code" : "251579",
            "display" : "Giant cell glioblastoma"
          },
          {
            "code" : "251582",
            "display" : "Gliomatosis cerebri"
          },
          {
            "code" : "251589",
            "display" : "Anaplastic astrocytoma"
          },
          {
            "code" : "251595",
            "display" : "Diffuse astrocytoma"
          },
          {
            "code" : "251598",
            "display" : "Protoplasmic astrocytoma"
          },
          {
            "code" : "2516",
            "display" : "Microcephaly-cardiac defect-lung malsegmentation syndrome"
          },
          {
            "code" : "251601",
            "display" : "Fibrillary astrocytoma"
          },
          {
            "code" : "251604",
            "display" : "Gemistocytic astrocytoma"
          },
          {
            "code" : "251607",
            "display" : "Pleomorphic xanthoastrocytoma"
          },
          {
            "code" : "251612",
            "display" : "Pilocytic astrocytoma"
          },
          {
            "code" : "251615",
            "display" : "Pilomyxoid astrocytoma"
          },
          {
            "code" : "251618",
            "display" : "Subependymal giant cell astrocytoma"
          },
          {
            "code" : "251623",
            "display" : "Pituicytoma"
          },
          {
            "code" : "251627",
            "display" : "Oligodendroglioma"
          },
          {
            "code" : "251630",
            "display" : "Anaplastic oligodendroglioma"
          },
          {
            "code" : "251636",
            "display" : "Ependymoma"
          },
          {
            "code" : "251639",
            "display" : "Subependymoma"
          },
          {
            "code" : "251643",
            "display" : "Myxopapillary ependymoma"
          },
          {
            "code" : "251646",
            "display" : "Anaplastic ependymoma"
          },
          {
            "code" : "251656",
            "display" : "Oligoastrocytoma"
          },
          {
            "code" : "251663",
            "display" : "Anaplastic oligoastrocytoma"
          },
          {
            "code" : "251671",
            "display" : "Angiocentric glioma"
          },
          {
            "code" : "251674",
            "display" : "Chordoid glioma"
          },
          {
            "code" : "251679",
            "display" : "Astroblastoma"
          },
          {
            "code" : "2518",
            "display" : "Autosomal recessive chorioretinopathy-microcephaly syndrome"
          },
          {
            "code" : "251855",
            "display" : "Anaplastic/large cell medulloblastoma"
          },
          {
            "code" : "251858",
            "display" : "Medulloblastoma with extensive nodularity"
          },
          {
            "code" : "251863",
            "display" : "Desmoplastic/nodular medulloblastoma"
          },
          {
            "code" : "251867",
            "display" : "Classic medulloblastoma"
          },
          {
            "code" : "251877",
            "display" : "Ganglioneuroblastoma"
          },
          {
            "code" : "251880",
            "display" : "Ependymoblastoma"
          },
          {
            "code" : "251883",
            "display" : "Medulloepithelioma of the central nervous system"
          },
          {
            "code" : "251899",
            "display" : "Choroid plexus carcinoma"
          },
          {
            "code" : "2519",
            "display" : "Microcephaly-seizures-intellectual disability-heart disease syndrome"
          },
          {
            "code" : "251902",
            "display" : "Atypical papilloma of choroid plexus"
          },
          {
            "code" : "251909",
            "display" : "Pineoblastoma"
          },
          {
            "code" : "251912",
            "display" : "Pineocytoma"
          },
          {
            "code" : "251915",
            "display" : "Papillary tumor of the pineal region"
          },
          {
            "code" : "251919",
            "display" : "Pineal parenchymal tumor of intermediate differenciation"
          },
          {
            "code" : "251927",
            "display" : "Extraventricular neurocytoma"
          },
          {
            "code" : "251931",
            "display" : "Cerebellar liponeurocytoma"
          },
          {
            "code" : "251937",
            "display" : "Gangliocytoma"
          },
          {
            "code" : "251940",
            "display" : "Desmoplastic infantile astrocytoma/ganglioglioma"
          },
          {
            "code" : "251946",
            "display" : "Dysembryoplastic neuroepithelial tumor"
          },
          {
            "code" : "251949",
            "display" : "Ganglioglioma"
          },
          {
            "code" : "251957",
            "display" : "Anaplastic ganglioglioma"
          },
          {
            "code" : "251962",
            "display" : "Papillary glioneuronal tumor"
          },
          {
            "code" : "251975",
            "display" : "Rosette-forming glioneuronal tumor"
          },
          {
            "code" : "251992",
            "display" : "Ganglioneuroma"
          },
          {
            "code" : "252006",
            "display" : "Yolk sac tumor of central nervous system"
          },
          {
            "code" : "252015",
            "display" : "Choriocarcinoma of the central nervous system"
          },
          {
            "code" : "252018",
            "display" : "Teratoma of the central nervous system"
          },
          {
            "code" : "252021",
            "display" : "Mixed germ cell tumor of central nervous system"
          },
          {
            "code" : "252031",
            "display" : "Diffuse leptomeningeal melanocytosis"
          },
          {
            "code" : "252046",
            "display" : "Meningeal melanocytoma"
          },
          {
            "code" : "252050",
            "display" : "Primary melanoma of the central nervous system"
          },
          {
            "code" : "252054",
            "display" : "Hemangioblastoma"
          },
          {
            "code" : "2521",
            "display" : "Microcephaly-cleft palate-abnormal retinal pigmentation syndrome"
          },
          {
            "code" : "252128",
            "display" : "Malignant peripheral nerve sheath tumor with perineurial differentiation"
          },
          {
            "code" : "252164",
            "display" : "Benign schwannoma"
          },
          {
            "code" : "252175",
            "display" : "Vestibular schwannoma"
          },
          {
            "code" : "252183",
            "display" : "Neurofibroma"
          },
          {
            "code" : "2522",
            "display" : "Microcephaly-cervical spine fusion anomalies syndrome"
          },
          {
            "code" : "252202",
            "display" : "Constitutional mismatch repair deficiency syndrome"
          },
          {
            "code" : "252206",
            "display" : "Melanoma and neural system tumor syndrome"
          },
          {
            "code" : "252212",
            "display" : "Malignant triton tumor"
          },
          {
            "code" : "2523",
            "display" : "Microcephaly-brain defect-spasticity-hypernatremia syndrome"
          },
          {
            "code" : "2524",
            "display" : "Pontocerebellar hypoplasia type 2"
          },
          {
            "code" : "2526",
            "display" : "Microcephaly-lymphedema-chorioretinopathy syndrome"
          },
          {
            "code" : "2528",
            "display" : "Microcephaly-microcornea syndrome, Seemanova type"
          },
          {
            "code" : "2533",
            "display" : "Microcephaly-deafness-intellectual disability syndrome"
          },
          {
            "code" : "2536",
            "display" : "Microcornea-glaucoma-absent frontal sinuses syndrome"
          },
          {
            "code" : "2538",
            "display" : "Microgastria-limb reduction defect syndrome"
          },
          {
            "code" : "254334",
            "display" : "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B"
          },
          {
            "code" : "254343",
            "display" : "Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome"
          },
          {
            "code" : "254346",
            "display" : "19p13.12 microdeletion syndrome"
          },
          {
            "code" : "254351",
            "display" : "Distal 7q11.23 microdeletion syndrome"
          },
          {
            "code" : "254361",
            "display" : "Plectin-related limb-girdle muscular dystrophy R17"
          },
          {
            "code" : "254379",
            "display" : "Linear lichen planus"
          },
          {
            "code" : "254395",
            "display" : "Actinic lichen planus"
          },
          {
            "code" : "254411",
            "display" : "Annular atrophic lichen planus"
          },
          {
            "code" : "254424",
            "display" : "Annular lichen planus"
          },
          {
            "code" : "254449",
            "display" : "Atrophic lichen planus"
          },
          {
            "code" : "254463",
            "display" : "Lichen planus pigmentosus"
          },
          {
            "code" : "254478",
            "display" : "Lichen planus pemphigoides"
          },
          {
            "code" : "254492",
            "display" : "Frontal fibrosing alopecia"
          },
          {
            "code" : "254504",
            "display" : "Inhalational botulism"
          },
          {
            "code" : "254509",
            "display" : "Iatrogenic botulism"
          },
          {
            "code" : "254516",
            "display" : "Temple syndrome"
          },
          {
            "code" : "254519",
            "display" : "Kagami-Ogata syndrome"
          },
          {
            "code" : "254525",
            "display" : "Temple syndrome due to paternal 14q32.2 microdeletion"
          },
          {
            "code" : "254528",
            "display" : "Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion"
          },
          {
            "code" : "254531",
            "display" : "Temple syndrome due to paternal 14q32.2 hypomethylation"
          },
          {
            "code" : "254534",
            "display" : "Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation"
          },
          {
            "code" : "254688",
            "display" : "Complete hydatidiform mole"
          },
          {
            "code" : "254693",
            "display" : "Partial hydatidiform mole"
          },
          {
            "code" : "254698",
            "display" : "Epithelioid trophoblastic tumor"
          },
          {
            "code" : "2547",
            "display" : "Microphthalmia-microtia-fetal akinesia syndrome"
          },
          {
            "code" : "254704",
            "display" : "Genetic hyperferritinemia without iron overload"
          },
          {
            "code" : "254851",
            "display" : "Mitochondrial DNA-related dystonia"
          },
          {
            "code" : "254854",
            "display" : "Pure mitochondrial myopathy"
          },
          {
            "code" : "254857",
            "display" : "Lethal infantile mitochondrial myopathy"
          },
          {
            "code" : "254864",
            "display" : "Mitochondrial myopathy with reversible cytochrome C oxidase deficiency"
          },
          {
            "code" : "254875",
            "display" : "Mitochondrial DNA depletion syndrome, myopathic form"
          },
          {
            "code" : "254881",
            "display" : "Spinocerebellar ataxia with epilepsy"
          },
          {
            "code" : "254886",
            "display" : "Autosomal recessive progressive external ophthalmoplegia"
          },
          {
            "code" : "254892",
            "display" : "Autosomal dominant progressive external ophthalmoplegia"
          },
          {
            "code" : "254898",
            "display" : "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome"
          },
          {
            "code" : "2549",
            "display" : "Oculoauriculovertebral spectrum with radial defects"
          },
          {
            "code" : "254902",
            "display" : "Renal tubulopathy-encephalopathy-liver failure syndrome"
          },
          {
            "code" : "254905",
            "display" : "Isolated cytochrome C oxidase deficiency"
          },
          {
            "code" : "254913",
            "display" : "Isolated ATP synthase deficiency"
          },
          {
            "code" : "254920",
            "display" : "Combined oxidative phosphorylation defect type 2"
          },
          {
            "code" : "254925",
            "display" : "Combined oxidative phosphorylation defect type 4"
          },
          {
            "code" : "254930",
            "display" : "Combined oxidative phosphorylation defect type 7"
          },
          {
            "code" : "2551",
            "display" : "Microspherophakia-metaphyseal dysplasia syndrome"
          },
          {
            "code" : "255132",
            "display" : "Adult-onset autosomal recessive sideroblastic anemia"
          },
          {
            "code" : "255138",
            "display" : "Pyruvate dehydrogenase E1-beta deficiency"
          },
          {
            "code" : "255182",
            "display" : "Pyruvate dehydrogenase E3-binding protein deficiency"
          },
          {
            "code" : "2552",
            "display" : "Microsporidiosis"
          },
          {
            "code" : "255210",
            "display" : "Mitochondrial DNA-associated Leigh syndrome"
          },
          {
            "code" : "255229",
            "display" : "Navajo neurohepatopathy"
          },
          {
            "code" : "255235",
            "display" : "Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy"
          },
          {
            "code" : "2554",
            "display" : "Ear-patella-short stature syndrome"
          },
          {
            "code" : "2556",
            "display" : "Microphthalmia with linear skin defects syndrome"
          },
          {
            "code" : "2557",
            "display" : "Mietens syndrome"
          },
          {
            "code" : "2558",
            "display" : "Mikati-Najjar-Sahli syndrome"
          },
          {
            "code" : "256",
            "display" : "Early-onset generalized limb-onset dystonia"
          },
          {
            "code" : "2560",
            "display" : "Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome"
          },
          {
            "code" : "2561",
            "display" : "Pyramidal molars-abnormal upper lip syndrome"
          },
          {
            "code" : "2563",
            "display" : "MOMO syndrome"
          },
          {
            "code" : "2564",
            "display" : "Tetramelic monodactyly"
          },
          {
            "code" : "2565",
            "display" : "Mononen-Karnes-Senac syndrome"
          },
          {
            "code" : "2566",
            "display" : "Chronic Epstein-Barr virus infection syndrome"
          },
          {
            "code" : "257",
            "display" : "Epidermolysis bullosa simplex with muscular dystrophy"
          },
          {
            "code" : "2570",
            "display" : "Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome"
          },
          {
            "code" : "2571",
            "display" : "X-linked immunoneurologic disorder"
          },
          {
            "code" : "2572",
            "display" : "Spastic ataxia-corneal dystrophy syndrome"
          },
          {
            "code" : "2573",
            "display" : "Moyamoya disease"
          },
          {
            "code" : "2574",
            "display" : "Moynahan syndrome"
          },
          {
            "code" : "2575",
            "display" : "Cystic fibrosis-gastritis-megaloblastic anemia syndrome"
          },
          {
            "code" : "2576",
            "display" : "Mulibrey nanism"
          },
          {
            "code" : "2578",
            "display" : "Mayer-Rokitansky-Küster-Hauser syndrome type 2"
          },
          {
            "code" : "2579",
            "display" : "Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome"
          },
          {
            "code" : "258",
            "display" : "Laminin subunit alpha 2-related congenital muscular dystrophy"
          },
          {
            "code" : "2582",
            "display" : "Myalgia-eosinophilia syndrome associated with tryptophan"
          },
          {
            "code" : "2583",
            "display" : "Mycetoma"
          },
          {
            "code" : "2584",
            "display" : "Classic mycosis fungoides"
          },
          {
            "code" : "2585",
            "display" : "Ataxia-pancytopenia syndrome"
          },
          {
            "code" : "2587",
            "display" : "Myeloperoxidase deficiency"
          },
          {
            "code" : "2588",
            "display" : "Myhre syndrome"
          },
          {
            "code" : "2589",
            "display" : "Myoclonus-cerebellar ataxia-deafness syndrome"
          },
          {
            "code" : "2590",
            "display" : "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome"
          },
          {
            "code" : "2591",
            "display" : "Infantile myofibromatosis"
          },
          {
            "code" : "2593",
            "display" : "Tubular aggregate myopathy"
          },
          {
            "code" : "2596",
            "display" : "Myopathy and diabetes mellitus"
          },
          {
            "code" : "25968",
            "display" : "Benign occipital epilepsy"
          },
          {
            "code" : "2597",
            "display" : "Mitochondrial myopathy-lactic acidosis-deafness syndrome"
          },
          {
            "code" : "2598",
            "display" : "Mitochondrial myopathy and sideroblastic anemia"
          },
          {
            "code" : "25980",
            "display" : "X-linked myopathy with excessive autophagy"
          },
          {
            "code" : "26",
            "display" : "Methylmalonic acidemia with homocystinuria"
          },
          {
            "code" : "260305",
            "display" : "Autosomal recessive sideroblastic anemia"
          },
          {
            "code" : "2604",
            "display" : "Familial visceral myopathy"
          },
          {
            "code" : "2608",
            "display" : "N syndrome"
          },
          {
            "code" : "2609",
            "display" : "Isolated complex I deficiency"
          },
          {
            "code" : "261",
            "display" : "Emery-Dreifuss muscular dystrophy"
          },
          {
            "code" : "26106",
            "display" : "Hereditary diffuse gastric cancer"
          },
          {
            "code" : "2611",
            "display" : "Linear verrucous nevus syndrome"
          },
          {
            "code" : "261102",
            "display" : "Distal 7q11.23 microduplication syndrome"
          },
          {
            "code" : "261112",
            "display" : "Monosomy 9p"
          },
          {
            "code" : "261120",
            "display" : "14q11.2 microdeletion syndrome"
          },
          {
            "code" : "261144",
            "display" : "FOXG1 syndrome due to 14q12 microdeletion"
          },
          {
            "code" : "261183",
            "display" : "15q11.2 microdeletion syndrome"
          },
          {
            "code" : "261190",
            "display" : "15q14 microdeletion syndrome"
          },
          {
            "code" : "261197",
            "display" : "Proximal 16p11.2 microdeletion syndrome"
          },
          {
            "code" : "2612",
            "display" : "Linear nevus sebaceus syndrome"
          },
          {
            "code" : "261204",
            "display" : "16p11.2p12.2 microduplication syndrome"
          },
          {
            "code" : "261211",
            "display" : "16p11.2p12.2 microdeletion syndrome"
          },
          {
            "code" : "261222",
            "display" : "Distal 16p11.2 microdeletion syndrome"
          },
          {
            "code" : "261229",
            "display" : "14q11.2 microduplication syndrome"
          },
          {
            "code" : "261236",
            "display" : "16p13.11 microdeletion syndrome"
          },
          {
            "code" : "261243",
            "display" : "16p13.11 microduplication syndrome"
          },
          {
            "code" : "261250",
            "display" : "16q24.3 microdeletion syndrome"
          },
          {
            "code" : "261257",
            "display" : "Distal 17p13.3 microdeletion syndrome"
          },
          {
            "code" : "261265",
            "display" : "17q12 microdeletion syndrome"
          },
          {
            "code" : "261272",
            "display" : "17q12 microduplication syndrome"
          },
          {
            "code" : "261279",
            "display" : "17q23.1q23.2 microdeletion syndrome"
          },
          {
            "code" : "261290",
            "display" : "Trisomy 17p"
          },
          {
            "code" : "261295",
            "display" : "20p12.3 microdeletion syndrome"
          },
          {
            "code" : "2613",
            "display" : "Nail-patella-like renal disease"
          },
          {
            "code" : "261304",
            "display" : "Paternal 20q13.2q13.3 microdeletion syndrome"
          },
          {
            "code" : "261311",
            "display" : "20q13.33 microdeletion syndrome"
          },
          {
            "code" : "261318",
            "display" : "Trisomy 20p"
          },
          {
            "code" : "261323",
            "display" : "21q22.11q22.12 microdeletion syndrome"
          },
          {
            "code" : "261330",
            "display" : "Distal 22q11.2 microdeletion syndrome"
          },
          {
            "code" : "261337",
            "display" : "Distal 22q11.2 microduplication syndrome"
          },
          {
            "code" : "261344",
            "display" : "Trisomy 1q"
          },
          {
            "code" : "261349",
            "display" : "2p15p16.1 microdeletion syndrome"
          },
          {
            "code" : "26137",
            "display" : "Juvenile temporal arteritis"
          },
          {
            "code" : "2614",
            "display" : "Nail-patella syndrome"
          },
          {
            "code" : "261476",
            "display" : "Xp21 deletion syndrome"
          },
          {
            "code" : "261483",
            "display" : "Xq27.3q28 duplication syndrome"
          },
          {
            "code" : "261494",
            "display" : "Kleefstra syndrome"
          },
          {
            "code" : "261501",
            "display" : "Atypical Norrie disease due to Xp11.3 microdeletion"
          },
          {
            "code" : "261519",
            "display" : "Maternal uniparental disomy of chromosome X"
          },
          {
            "code" : "261524",
            "display" : "Paternal uniparental disomy of chromosome X"
          },
          {
            "code" : "261529",
            "display" : "Ring chromosome Y syndrome"
          },
          {
            "code" : "261534",
            "display" : "49,XXXYY syndrome"
          },
          {
            "code" : "261537",
            "display" : "Mowat-Wilson syndrome due to monosomy 2q22"
          },
          {
            "code" : "261552",
            "display" : "Mowat-Wilson syndrome due to a ZEB2 point mutation"
          },
          {
            "code" : "261584",
            "display" : "Familial adenomatous polyposis due to 5q22.2 microdeletion"
          },
          {
            "code" : "2616",
            "display" : "3M syndrome"
          },
          {
            "code" : "261600",
            "display" : "Alagille syndrome due to 20p12 microdeletion"
          },
          {
            "code" : "261619",
            "display" : "Alagille syndrome due to a JAG1 point mutation"
          },
          {
            "code" : "261629",
            "display" : "Alagille syndrome due to a NOTCH2 point mutation"
          },
          {
            "code" : "261638",
            "display" : "Okihiro syndrome due to 20q13 microdeletion"
          },
          {
            "code" : "261647",
            "display" : "Okihiro syndrome due to a point mutation"
          },
          {
            "code" : "261652",
            "display" : "Kleefstra syndrome due to a point mutation"
          },
          {
            "code" : "2617",
            "display" : "Microcephalic primordial dwarfism, Montreal type"
          },
          {
            "code" : "2619",
            "display" : "Brachydactylous dwarfism, Mseleni type"
          },
          {
            "code" : "2623",
            "display" : "Geleophysic dysplasia"
          },
          {
            "code" : "2631",
            "display" : "Mesomelic dwarfism-cleft palate-camptodactyly syndrome"
          },
          {
            "code" : "2632",
            "display" : "Langer mesomelic dysplasia"
          },
          {
            "code" : "263297",
            "display" : "Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency"
          },
          {
            "code" : "2633",
            "display" : "Mesomelic dysplasia, Nievergelt type"
          },
          {
            "code" : "263310",
            "display" : "Thymoma type A"
          },
          {
            "code" : "263317",
            "display" : "Thymoma type B"
          },
          {
            "code" : "263324",
            "display" : "Thymoma type AB"
          },
          {
            "code" : "263331",
            "display" : "Well-differentiated thymic neuroendocrine carcinoma"
          },
          {
            "code" : "263335",
            "display" : "Moderately-differentiated thymic neuroendocrine carcinoma"
          },
          {
            "code" : "263339",
            "display" : "Poorly differentiated thymic neuroendocrine carcinoma"
          },
          {
            "code" : "263347",
            "display" : "MRCS syndrome"
          },
          {
            "code" : "263352",
            "display" : "Postcardiotomy right ventricular failure"
          },
          {
            "code" : "2634",
            "display" : "Mesomelic dwarfism, Reinhardt-Pfeiffer type"
          },
          {
            "code" : "263410",
            "display" : "Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome"
          },
          {
            "code" : "263413",
            "display" : "Angiosarcoma"
          },
          {
            "code" : "263425",
            "display" : "Nevus of Ota"
          },
          {
            "code" : "263432",
            "display" : "Nevus of Ito"
          },
          {
            "code" : "263435",
            "display" : "Congenital smooth muscle hamartoma"
          },
          {
            "code" : "263455",
            "display" : "Congenital hyperinsulinism due to HNF4A deficiency"
          },
          {
            "code" : "263458",
            "display" : "Hyperinsulinism due to INSR deficiency"
          },
          {
            "code" : "263463",
            "display" : "CHST3-related skeletal dysplasia"
          },
          {
            "code" : "263479",
            "display" : "Fuchs heterochromic iridocyclitis"
          },
          {
            "code" : "26348",
            "display" : "Acquired prothrombin deficiency"
          },
          {
            "code" : "263482",
            "display" : "Spondyloepiphyseal dysplasia, Maroteaux type"
          },
          {
            "code" : "263487",
            "display" : "COG5-CDG"
          },
          {
            "code" : "26349",
            "display" : "Protein S acquired deficiency"
          },
          {
            "code" : "263494",
            "display" : "DPM3-CDG"
          },
          {
            "code" : "2635",
            "display" : "Metatropic dysplasia"
          },
          {
            "code" : "263501",
            "display" : "COG4-CDG"
          },
          {
            "code" : "263508",
            "display" : "COG1-CDG"
          },
          {
            "code" : "263516",
            "display" : "Progressive myoclonic epilepsy type 3"
          },
          {
            "code" : "263524",
            "display" : "Acute necrotizing encephalopathy of childhood"
          },
          {
            "code" : "263534",
            "display" : "Acral peeling skin syndrome"
          },
          {
            "code" : "263543",
            "display" : "Generalized peeling skin syndrome"
          },
          {
            "code" : "263548",
            "display" : "Peeling skin syndrome type A"
          },
          {
            "code" : "263553",
            "display" : "Peeling skin syndrome type B"
          },
          {
            "code" : "2636",
            "display" : "Microcephalic osteodysplastic primordial dwarfism types I and III"
          },
          {
            "code" : "263662",
            "display" : "Familial multiple meningioma"
          },
          {
            "code" : "263665",
            "display" : "NK-cell enteropathy"
          },
          {
            "code" : "2637",
            "display" : "Microcephalic osteodysplastic primordial dwarfism type II"
          },
          {
            "code" : "2639",
            "display" : "Fibular aplasia-complex brachydactyly syndrome"
          },
          {
            "code" : "264200",
            "display" : "14q22q23 microdeletion syndrome"
          },
          {
            "code" : "2643",
            "display" : "Microcephalic primordial dwarfism, Toriello type"
          },
          {
            "code" : "264450",
            "display" : "Trisomy 8p"
          },
          {
            "code" : "2645",
            "display" : "Osteoglosphonic dysplasia"
          },
          {
            "code" : "264580",
            "display" : "Glycogen storage disease due to liver phosphorylase kinase deficiency"
          },
          {
            "code" : "2646",
            "display" : "Parastremmatic dwarfism"
          },
          {
            "code" : "264675",
            "display" : "Hereditary pulmonary alveolar proteinosis"
          },
          {
            "code" : "264688",
            "display" : "Congenital chylothorax"
          },
          {
            "code" : "264691",
            "display" : "Isolated pulmonary capillaritis"
          },
          {
            "code" : "264978",
            "display" : "Drug or radiation exposure-related interstitial lung disease"
          },
          {
            "code" : "2653",
            "display" : "Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome"
          },
          {
            "code" : "2655",
            "display" : "Thanatophoric dysplasia"
          },
          {
            "code" : "2658",
            "display" : "Lenz-Majewski hyperostotic dwarfism"
          },
          {
            "code" : "266",
            "display" : "Autosomal dominant limb-girdle muscular dystrophy type 1A"
          },
          {
            "code" : "2662",
            "display" : "Keipert syndrome"
          },
          {
            "code" : "2663",
            "display" : "Nathalie syndrome"
          },
          {
            "code" : "2665",
            "display" : "Congenital mesoblastic nephroma"
          },
          {
            "code" : "2666",
            "display" : "Adult familial nephronophthisis-spastic quadriparesia syndrome"
          },
          {
            "code" : "2668",
            "display" : "Nephropathy-deafness-hyperparathyroidism syndrome"
          },
          {
            "code" : "2669",
            "display" : "Nephrosis-deafness-urinary tract-digital malformations syndrome"
          },
          {
            "code" : "267",
            "display" : "Calpain-3-related limb-girdle muscular dystrophy R1"
          },
          {
            "code" : "2670",
            "display" : "Pierson syndrome"
          },
          {
            "code" : "2671",
            "display" : "Neu-Laxova syndrome"
          },
          {
            "code" : "2672",
            "display" : "Neuhauser-Eichner-Opitz syndrome"
          },
          {
            "code" : "2673",
            "display" : "Neurofaciodigitorenal syndrome"
          },
          {
            "code" : "2674",
            "display" : "Cyprus facial-neuromusculoskeletal syndrome"
          },
          {
            "code" : "2678",
            "display" : "Familial isolated café-au-lait macules"
          },
          {
            "code" : "26790",
            "display" : "Pseudomyxoma peritonei"
          },
          {
            "code" : "26791",
            "display" : "Multiple acyl-CoA dehydrogenase deficiency"
          },
          {
            "code" : "26792",
            "display" : "Short chain acyl-CoA dehydrogenase deficiency"
          },
          {
            "code" : "26793",
            "display" : "Very long chain acyl-CoA dehydrogenase deficiency"
          },
          {
            "code" : "268",
            "display" : "Dysferlin-related limb-girdle muscular dystrophy R2"
          },
          {
            "code" : "2680",
            "display" : "Hypomyelination neuropathy-arthrogryposis syndrome"
          },
          {
            "code" : "268114",
            "display" : "RAS-associated autoimmune leukoproliferative disease"
          },
          {
            "code" : "268129",
            "display" : "Spheroid body myopathy"
          },
          {
            "code" : "268139",
            "display" : "Intraocular medulloepithelioma"
          },
          {
            "code" : "268145",
            "display" : "Classic maple syrup urine disease"
          },
          {
            "code" : "268162",
            "display" : "Intermediate maple syrup urine disease"
          },
          {
            "code" : "268173",
            "display" : "Intermittent maple syrup urine disease"
          },
          {
            "code" : "268184",
            "display" : "Thiamine-responsive maple syrup urine disease"
          },
          {
            "code" : "268249",
            "display" : "Mycophenolate mofetil embryopathy"
          },
          {
            "code" : "268261",
            "display" : "DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion"
          },
          {
            "code" : "268316",
            "display" : "Complication in hemodialysis"
          },
          {
            "code" : "268322",
            "display" : "Hereditary thrombocytopenia with normal platelets"
          },
          {
            "code" : "268363",
            "display" : "Open iniencephaly"
          },
          {
            "code" : "268366",
            "display" : "Closed iniencephaly"
          },
          {
            "code" : "2686",
            "display" : "Cyclic neutropenia"
          },
          {
            "code" : "2688",
            "display" : "Adult idiopathic neutropenia"
          },
          {
            "code" : "268810",
            "display" : "Isolated posterior meningocele"
          },
          {
            "code" : "268820",
            "display" : "Cranial meningocele"
          },
          {
            "code" : "268823",
            "display" : "Occipital encephalocele"
          },
          {
            "code" : "268826",
            "display" : "Parietal encephalocele"
          },
          {
            "code" : "268829",
            "display" : "Basal encephalocele"
          },
          {
            "code" : "268861",
            "display" : "Primary tethered cord syndrome"
          },
          {
            "code" : "268865",
            "display" : "Neurenteric cyst"
          },
          {
            "code" : "268868",
            "display" : "Isolated amyelia"
          },
          {
            "code" : "268882",
            "display" : "Arnold-Chiari malformation type I"
          },
          {
            "code" : "268920",
            "display" : "Isolated megalencephaly"
          },
          {
            "code" : "268936",
            "display" : "Isolated arhinencephaly"
          },
          {
            "code" : "268940",
            "display" : "Bilateral polymicrogyria"
          },
          {
            "code" : "268943",
            "display" : "Unilateral polymicrogyria"
          },
          {
            "code" : "268947",
            "display" : "Unilateral focal polymicrogyria"
          },
          {
            "code" : "268961",
            "display" : "Isolated focal cortical dysplasia type I"
          },
          {
            "code" : "268973",
            "display" : "Isolated focal cortical dysplasia type Ia"
          },
          {
            "code" : "268980",
            "display" : "Isolated focal cortical dysplasia type Ib"
          },
          {
            "code" : "268987",
            "display" : "Isolated focal cortical dysplasia type Ic"
          },
          {
            "code" : "268994",
            "display" : "Isolated focal cortical dysplasia type II"
          },
          {
            "code" : "269",
            "display" : "Facioscapulohumeral dystrophy"
          },
          {
            "code" : "2690",
            "display" : "Neutropenia-monocytopenia-deafness syndrome"
          },
          {
            "code" : "269001",
            "display" : "Isolated focal cortical dysplasia type IIa"
          },
          {
            "code" : "269008",
            "display" : "Isolated focal cortical dysplasia type IIb"
          },
          {
            "code" : "269197",
            "display" : "Glioependymal/ependymal cyst"
          },
          {
            "code" : "269203",
            "display" : "Isolated cerebellar vermis agenesis"
          },
          {
            "code" : "269206",
            "display" : "Isolated total cerebellar vermis agenesis"
          },
          {
            "code" : "269209",
            "display" : "Isolated partial cerebellar vermis agenesis"
          },
          {
            "code" : "269212",
            "display" : "Isolated Dandy-Walker malformation with hydrocephalus"
          },
          {
            "code" : "269215",
            "display" : "Isolated Dandy-Walker malformation without hydrocephalus"
          },
          {
            "code" : "269218",
            "display" : "Isolated unilateral hemispheric cerebellar hypoplasia"
          },
          {
            "code" : "269221",
            "display" : "Isolated bilateral hemispheric cerebellar hypoplasia"
          },
          {
            "code" : "269229",
            "display" : "Pontine tegmental cap dysplasia"
          },
          {
            "code" : "2695",
            "display" : "Bifid nose"
          },
          {
            "code" : "269505",
            "display" : "Congenital communicating hydrocephalus"
          },
          {
            "code" : "269510",
            "display" : "Congenital non-communicating hydrocephalus"
          },
          {
            "code" : "2697",
            "display" : "Arthrogryposis-renal dysfunction-cholestasis syndrome"
          },
          {
            "code" : "2698",
            "display" : "Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome"
          },
          {
            "code" : "2699",
            "display" : "Median nodule of the upper lip"
          },
          {
            "code" : "27",
            "display" : "Vitamin B12-unresponsive methylmalonic acidemia"
          },
          {
            "code" : "270",
            "display" : "Oculopharyngeal muscular dystrophy"
          },
          {
            "code" : "2700",
            "display" : "Noma"
          },
          {
            "code" : "2701",
            "display" : "Noonan syndrome-like disorder with loose anagen hair"
          },
          {
            "code" : "2703",
            "display" : "Port-wine nevi-mega cisterna magna-hydrocephalus syndrome"
          },
          {
            "code" : "2704",
            "display" : "Ochoa syndrome"
          },
          {
            "code" : "2707",
            "display" : "Oculocerebrofacial syndrome, Kaufman type"
          },
          {
            "code" : "2709",
            "display" : "Oculodental syndrome, Rutherfurd type"
          },
          {
            "code" : "2710",
            "display" : "Oculodentodigital dysplasia"
          },
          {
            "code" : "2712",
            "display" : "Oculofaciocardiodental syndrome"
          },
          {
            "code" : "2713",
            "display" : "Oculoosteocutaneous syndrome"
          },
          {
            "code" : "2714",
            "display" : "Oculo-palato-cerebral syndrome"
          },
          {
            "code" : "2715",
            "display" : "Severe oculo-renal-cerebellar syndrome"
          },
          {
            "code" : "2717",
            "display" : "Oculotrichoanal syndrome"
          },
          {
            "code" : "2718",
            "display" : "Oculotrichodysplasia"
          },
          {
            "code" : "2719",
            "display" : "Oculocerebral hypopigmentation syndrome, Cross type"
          },
          {
            "code" : "272",
            "display" : "Congenital muscular dystrophy, Fukuyama type"
          },
          {
            "code" : "2720",
            "display" : "Oculocerebral hypopigmentation syndrome, Preus type"
          },
          {
            "code" : "2721",
            "display" : "Odonto-onycho-dermal dysplasia"
          },
          {
            "code" : "2722",
            "display" : "Odonto-onycho dysplasia-alopecia syndrome"
          },
          {
            "code" : "2723",
            "display" : "Odontotrichomelic syndrome"
          },
          {
            "code" : "2724",
            "display" : "Odontomatosis-aortae esophagus stenosis syndrome"
          },
          {
            "code" : "2728",
            "display" : "Blepharophimosis-intellectual disability syndrome, Ohdo type"
          },
          {
            "code" : "2729",
            "display" : "Okamoto syndrome"
          },
          {
            "code" : "273",
            "display" : "Steinert myotonic dystrophy"
          },
          {
            "code" : "2730",
            "display" : "Postaxial tetramelic oligodactyly"
          },
          {
            "code" : "2732",
            "display" : "Olivopontocerebellar atrophy-deafness syndrome"
          },
          {
            "code" : "2733",
            "display" : "Omodysplasia"
          },
          {
            "code" : "2736",
            "display" : "Lethal omphalocele-cleft palate syndrome"
          },
          {
            "code" : "2737",
            "display" : "Onchocerciasis"
          },
          {
            "code" : "274",
            "display" : "Bernard-Soulier syndrome"
          },
          {
            "code" : "2741",
            "display" : "Ophthalmomandibulomelic dysplasia"
          },
          {
            "code" : "2743",
            "display" : "Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome"
          },
          {
            "code" : "2744",
            "display" : "Horizontal gaze palsy with progressive scoliosis"
          },
          {
            "code" : "2745",
            "display" : "Opitz GBBB syndrome"
          },
          {
            "code" : "2746",
            "display" : "Opsismodysplasia"
          },
          {
            "code" : "275",
            "display" : "Severe combined immunodeficiency due to DCLRE1C deficiency"
          },
          {
            "code" : "2750",
            "display" : "Orofaciodigital syndrome type 1"
          },
          {
            "code" : "2751",
            "display" : "Orofaciodigital syndrome type 2"
          },
          {
            "code" : "2752",
            "display" : "Orofaciodigital syndrome type 3"
          },
          {
            "code" : "2753",
            "display" : "Orofaciodigital syndrome type 4"
          },
          {
            "code" : "2754",
            "display" : "Orofaciodigital syndrome type 6"
          },
          {
            "code" : "2755",
            "display" : "Orofaciodigital syndrome type 8"
          },
          {
            "code" : "275517",
            "display" : "Autoimmune lymphoproliferative syndrome with recurrent viral infections"
          },
          {
            "code" : "275523",
            "display" : "Dianzani autoimmune lymphoproliferative disease"
          },
          {
            "code" : "275543",
            "display" : "L1 syndrome"
          },
          {
            "code" : "275555",
            "display" : "Preeclampsia"
          },
          {
            "code" : "2756",
            "display" : "Orofaciodigital syndrome type 10"
          },
          {
            "code" : "275761",
            "display" : "Lysosomal acid lipase deficiency"
          },
          {
            "code" : "275766",
            "display" : "Idiopathic pulmonary arterial hypertension"
          },
          {
            "code" : "275777",
            "display" : "Heritable pulmonary arterial hypertension"
          },
          {
            "code" : "275864",
            "display" : "Behavioral variant of frontotemporal dementia"
          },
          {
            "code" : "275872",
            "display" : "Frontotemporal dementia with motor neuron disease"
          },
          {
            "code" : "2759",
            "display" : "Imperforate oropharynx-costovertebral anomalies syndrome"
          },
          {
            "code" : "275944",
            "display" : "Hemolytic disease of the newborn with Kell alloimmunization"
          },
          {
            "code" : "276",
            "display" : "T-B+ severe combined immunodeficiency due to gamma chain deficiency"
          },
          {
            "code" : "2760",
            "display" : "OSLAM syndrome"
          },
          {
            "code" : "276066",
            "display" : "Bile acid CoA ligase deficiency and defective amidation"
          },
          {
            "code" : "276145",
            "display" : "Malignant epithelial tumor of salivary glands"
          },
          {
            "code" : "276148",
            "display" : "Benign epithelial tumor of salivary glands"
          },
          {
            "code" : "276152",
            "display" : "Multiple endocrine neoplasia type 4"
          },
          {
            "code" : "276174",
            "display" : "Idiopathic recurrent stupor"
          },
          {
            "code" : "276183",
            "display" : "Spinocerebellar ataxia type 32"
          },
          {
            "code" : "276193",
            "display" : "Spinocerebellar ataxia type 35"
          },
          {
            "code" : "276198",
            "display" : "Spinocerebellar ataxia type 36"
          },
          {
            "code" : "2762",
            "display" : "Progressive osseous heteroplasia"
          },
          {
            "code" : "276212",
            "display" : "Mucopolysaccharidosis type 6, rapidly progressing"
          },
          {
            "code" : "276223",
            "display" : "Mucopolysaccharidosis type 6, slowly progressing"
          },
          {
            "code" : "276234",
            "display" : "Non-syndromic male infertility due to sperm motility disorder"
          },
          {
            "code" : "276238",
            "display" : "Machado-Joseph disease type 1"
          },
          {
            "code" : "276241",
            "display" : "Machado-Joseph disease type 2"
          },
          {
            "code" : "276244",
            "display" : "Machado-Joseph disease type 3"
          },
          {
            "code" : "276280",
            "display" : "Hemihyperplasia-multiple lipomatosis syndrome"
          },
          {
            "code" : "2763",
            "display" : "Osteocraniostenosis"
          },
          {
            "code" : "276399",
            "display" : "Familial multinodular goiter"
          },
          {
            "code" : "2764",
            "display" : "Osteochondritis dissecans"
          },
          {
            "code" : "276405",
            "display" : "Hyperbiliverdinemia"
          },
          {
            "code" : "276413",
            "display" : "10q22.3q23.3 microdeletion syndrome"
          },
          {
            "code" : "276422",
            "display" : "10q22.3q23.3 microduplication syndrome"
          },
          {
            "code" : "276429",
            "display" : "Hypnic headache"
          },
          {
            "code" : "276432",
            "display" : "Ogden syndrome"
          },
          {
            "code" : "276435",
            "display" : "Lower motor neuron syndrome with late-adult onset"
          },
          {
            "code" : "276556",
            "display" : "Hyperinsulinism due to UCP2 deficiency"
          },
          {
            "code" : "276575",
            "display" : "Autosomal dominant hyperinsulinism due to SUR1 deficiency"
          },
          {
            "code" : "276580",
            "display" : "Autosomal dominant hyperinsulinism due to Kir6.2 deficiency"
          },
          {
            "code" : "276598",
            "display" : "Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency"
          },
          {
            "code" : "276603",
            "display" : "Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency"
          },
          {
            "code" : "276608",
            "display" : "Non-insulinoma pancreatogenous hypoglycemia syndrome"
          },
          {
            "code" : "276621",
            "display" : "Sporadic pheochromocytoma/secreting paraganglioma"
          },
          {
            "code" : "276630",
            "display" : "Symptomatic form of Coffin-Lowry syndrome in female carriers"
          },
          {
            "code" : "2767",
            "display" : "Carpotarsal osteochondromatosis"
          },
          {
            "code" : "2768",
            "display" : "Blount disease"
          },
          {
            "code" : "2769",
            "display" : "Familial osteodysplasia, Anderson type"
          },
          {
            "code" : "277",
            "display" : "Severe combined immunodeficiency due to adenosine deaminase deficiency"
          },
          {
            "code" : "2770",
            "display" : "Nasu-Hakola disease"
          },
          {
            "code" : "2771",
            "display" : "Bruck syndrome"
          },
          {
            "code" : "2772",
            "display" : "Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome"
          },
          {
            "code" : "2773",
            "display" : "Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome"
          },
          {
            "code" : "2774",
            "display" : "Multicentric carpo-tarsal osteolysis with or without nephropathy"
          },
          {
            "code" : "2776",
            "display" : "Autosomal recessive distal osteolysis syndrome"
          },
          {
            "code" : "2777",
            "display" : "Osteomesopyknosis"
          },
          {
            "code" : "2779",
            "display" : "Osteopathia striata-pigmentary dermopathy-white forelock syndrome"
          },
          {
            "code" : "2780",
            "display" : "Osteopathia striata-cranial sclerosis syndrome"
          },
          {
            "code" : "2783",
            "display" : "Autosomal dominant osteopetrosis type 1"
          },
          {
            "code" : "2785",
            "display" : "Osteopetrosis with renal tubular acidosis"
          },
          {
            "code" : "2786",
            "display" : "Osteoporosis-oculocutaneous hypopigmentation syndrome"
          },
          {
            "code" : "2787",
            "display" : "Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome"
          },
          {
            "code" : "2788",
            "display" : "Osteoporosis-pseudoglioma syndrome"
          },
          {
            "code" : "2789",
            "display" : "Lateral meningocele syndrome"
          },
          {
            "code" : "2790",
            "display" : "Endosteal hyperostosis, Worth type"
          },
          {
            "code" : "2791",
            "display" : "Otodental syndrome"
          },
          {
            "code" : "2792",
            "display" : "Otofaciocervical syndrome"
          },
          {
            "code" : "2793",
            "display" : "Otoonychoperoneal syndrome"
          },
          {
            "code" : "2795",
            "display" : "Fowler urethral sphincter dysfunction syndrome"
          },
          {
            "code" : "2796",
            "display" : "Pachydermoperiostosis"
          },
          {
            "code" : "2798",
            "display" : "Pachygyria-intellectual disability-epilepsy syndrome"
          },
          {
            "code" : "279882",
            "display" : "Spasmus nutans"
          },
          {
            "code" : "279888",
            "display" : "Acute endophthalmitis"
          },
          {
            "code" : "279891",
            "display" : "Chronic endophthalmitis"
          },
          {
            "code" : "279894",
            "display" : "Toxic maculopathy due to antimalarial drugs"
          },
          {
            "code" : "279897",
            "display" : "Primary oculocerebral lymphoma"
          },
          {
            "code" : "279904",
            "display" : "Primary intraocular lymphoma"
          },
          {
            "code" : "279914",
            "display" : "Intermediate uveitis"
          },
          {
            "code" : "279919",
            "display" : "Infectious posterior uveitis"
          },
          {
            "code" : "279922",
            "display" : "Infectious anterior uveitis"
          },
          {
            "code" : "279925",
            "display" : "Infectious panuveitis"
          },
          {
            "code" : "279928",
            "display" : "Paraneoplastic uveitis"
          },
          {
            "code" : "279934",
            "display" : "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency"
          },
          {
            "code" : "279943",
            "display" : "Hereditary neutrophilia"
          },
          {
            "code" : "279947",
            "display" : "Postorgasmic illness syndrome"
          },
          {
            "code" : "28",
            "display" : "Vitamin B12-responsive methylmalonic acidemia"
          },
          {
            "code" : "280",
            "display" : "Wolf-Hirschhorn syndrome"
          },
          {
            "code" : "2800",
            "display" : "Extramammary Paget disease"
          },
          {
            "code" : "280062",
            "display" : "Calciphylaxis"
          },
          {
            "code" : "280065",
            "display" : "Calciphylaxis cutis"
          },
          {
            "code" : "280068",
            "display" : "Visceral calciphylaxis"
          },
          {
            "code" : "280071",
            "display" : "ALG11-CDG"
          },
          {
            "code" : "2801",
            "display" : "Juvenile Paget disease"
          },
          {
            "code" : "280133",
            "display" : "Complement component 3 deficiency"
          },
          {
            "code" : "280142",
            "display" : "Severe combined immunodeficiency due to LCK deficiency"
          },
          {
            "code" : "280183",
            "display" : "Methylmalonic aciduria due to transcobalamin receptor defect"
          },
          {
            "code" : "280195",
            "display" : "Septopreoptic holoprosencephaly"
          },
          {
            "code" : "2802",
            "display" : "X-linked sideroblastic anemia and spinocerebellar ataxia"
          },
          {
            "code" : "280200",
            "display" : "Microform holoprosencephaly"
          },
          {
            "code" : "280205",
            "display" : "Laryngotracheoesophageal cleft type 0"
          },
          {
            "code" : "280210",
            "display" : "Pelizaeus-Merzbacher disease, connatal form"
          },
          {
            "code" : "280219",
            "display" : "Pelizaeus-Merzbacher disease, classic form"
          },
          {
            "code" : "280224",
            "display" : "Pelizaeus-Merzbacher disease, transitional form"
          },
          {
            "code" : "280229",
            "display" : "Pelizaeus-Merzbacher disease in female carriers"
          },
          {
            "code" : "280234",
            "display" : "Null syndrome"
          },
          {
            "code" : "280270",
            "display" : "Pelizaeus-Merzbacher-like disease"
          },
          {
            "code" : "280282",
            "display" : "Pelizaeus-Merzbacher-like disease due to GJC2 mutation"
          },
          {
            "code" : "280288",
            "display" : "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation"
          },
          {
            "code" : "280293",
            "display" : "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation"
          },
          {
            "code" : "280302",
            "display" : "Autoimmune pancreatitis type 1"
          },
          {
            "code" : "280315",
            "display" : "Autoimmune pancreatitis type 2"
          },
          {
            "code" : "280325",
            "display" : "Distal deletion 12p"
          },
          {
            "code" : "280333",
            "display" : "Alpha-dystroglycan-related limb-girdle muscular dystrophy R16"
          },
          {
            "code" : "280356",
            "display" : "PLIN1-related familial partial lipodystrophy"
          },
          {
            "code" : "280365",
            "display" : "Autosomal semi-dominant severe lipodystrophic laminopathy"
          },
          {
            "code" : "280379",
            "display" : "Erythropoietic uroporphyria associated with myeloid malignancy"
          },
          {
            "code" : "280384",
            "display" : "Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome"
          },
          {
            "code" : "280397",
            "display" : "Familial Alzheimer-like prion disease"
          },
          {
            "code" : "2804",
            "display" : "W syndrome"
          },
          {
            "code" : "280403",
            "display" : "Familial omphalocele syndrome with facial dysmorphism"
          },
          {
            "code" : "280406",
            "display" : "Familial steroid-resistant nephrotic syndrome with sensorineural deafness"
          },
          {
            "code" : "2805",
            "display" : "Partial pancreatic agenesis"
          },
          {
            "code" : "280553",
            "display" : "Fatal infantile hypertonic myofibrillar myopathy"
          },
          {
            "code" : "280558",
            "display" : "Warsaw breakage syndrome"
          },
          {
            "code" : "280576",
            "display" : "Nestor-Guillermo progeria syndrome"
          },
          {
            "code" : "280586",
            "display" : "Chondrodysplasia with joint dislocations, gPAPP type"
          },
          {
            "code" : "280598",
            "display" : "Hereditary sensorimotor neuropathy with hyperelastic skin"
          },
          {
            "code" : "2806",
            "display" : "Subacute sclerosing leukoencephalitis"
          },
          {
            "code" : "280615",
            "display" : "Hemoglobinopathy Toms River"
          },
          {
            "code" : "280620",
            "display" : "Progressive myoclonic epilepsy type 6"
          },
          {
            "code" : "280628",
            "display" : "Familial progressive hyper- and hypopigmentation"
          },
          {
            "code" : "280633",
            "display" : "Multiple congenital anomalies-hypotonia-seizures syndrome"
          },
          {
            "code" : "280640",
            "display" : "Occipital pachygyria and polymicrogyria"
          },
          {
            "code" : "280654",
            "display" : "Autosomal recessive nail dysplasia"
          },
          {
            "code" : "280671",
            "display" : "Megaconial congenital muscular dystrophy"
          },
          {
            "code" : "280679",
            "display" : "Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome"
          },
          {
            "code" : "2807",
            "display" : "Papilloma of choroid plexus"
          },
          {
            "code" : "280763",
            "display" : "Severe intellectual disability and progressive spastic paraplegia"
          },
          {
            "code" : "280774",
            "display" : "Generalized essential telangiectasia"
          },
          {
            "code" : "280779",
            "display" : "Cutaneous collagenous vasculopathy"
          },
          {
            "code" : "280785",
            "display" : "Bullous diffuse cutaneous mastocytosis"
          },
          {
            "code" : "280794",
            "display" : "Pseudoxanthomatous diffuse cutaneous mastocytosis"
          },
          {
            "code" : "2808",
            "display" : "Laryngeal abductor paralysis"
          },
          {
            "code" : "280802",
            "display" : "Intralobar congenital pulmonary sequestration"
          },
          {
            "code" : "280811",
            "display" : "Extralobar congenital pulmonary sequestration"
          },
          {
            "code" : "280821",
            "display" : "Communicating congenital bronchopulmonary-foregut malformation"
          },
          {
            "code" : "280827",
            "display" : "Congenital pulmonary airway malformation type 0"
          },
          {
            "code" : "280832",
            "display" : "Congenital pulmonary airway malformation type 1"
          },
          {
            "code" : "280840",
            "display" : "Congenital pulmonary airway malformation type 2"
          },
          {
            "code" : "280847",
            "display" : "Congenital pulmonary airway malformation type 3"
          },
          {
            "code" : "280854",
            "display" : "Congenital pulmonary airway malformation type 4"
          },
          {
            "code" : "2809",
            "display" : "Familial recurrent peripheral facial palsy"
          },
          {
            "code" : "280917",
            "display" : "Idiopathic posterior uveitis"
          },
          {
            "code" : "280921",
            "display" : "Idiopathic panuveitis"
          },
          {
            "code" : "281",
            "display" : "Monosomy 5p"
          },
          {
            "code" : "281090",
            "display" : "Syndromic recessive X-linked ichthyosis"
          },
          {
            "code" : "281122",
            "display" : "Self-improving collodion baby"
          },
          {
            "code" : "281127",
            "display" : "Acral self-healing collodion baby"
          },
          {
            "code" : "281139",
            "display" : "Annular epidermolytic ichthyosis"
          },
          {
            "code" : "281190",
            "display" : "Congenital reticular ichthyosiform erythroderma"
          },
          {
            "code" : "2812",
            "display" : "Parana hard skin syndrome"
          },
          {
            "code" : "281201",
            "display" : "Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome"
          },
          {
            "code" : "2815",
            "display" : "Spastic paraparesis-deafness syndrome"
          },
          {
            "code" : "2818",
            "display" : "Spastic paraplegia-glaucoma-intellectual disability syndrome"
          },
          {
            "code" : "2819",
            "display" : "Spastic paraplegia-facial-cutaneous lesions syndrome"
          },
          {
            "code" : "2820",
            "display" : "Spastic paraplegia-nephritis-deafness syndrome"
          },
          {
            "code" : "2821",
            "display" : "Spastic paraplegia-neuropathy-poikiloderma syndrome"
          },
          {
            "code" : "282166",
            "display" : "Inherited Creutzfeldt-Jakob disease"
          },
          {
            "code" : "2822",
            "display" : "Autosomal recessive spastic paraplegia type 11"
          },
          {
            "code" : "2824",
            "display" : "Paraplegia-intellectual disability-hyperkeratosis syndrome"
          },
          {
            "code" : "2825",
            "display" : "PARC syndrome"
          },
          {
            "code" : "2826",
            "display" : "Spastic paraplegia-precocious puberty syndrome"
          },
          {
            "code" : "2828",
            "display" : "Young-onset Parkinson disease"
          },
          {
            "code" : "283",
            "display" : "Demodicidosis"
          },
          {
            "code" : "2831",
            "display" : "Rhizomelic dysplasia, Patterson-Lowry type"
          },
          {
            "code" : "2832",
            "display" : "Short tarsus-absence of lower eyelashes syndrome"
          },
          {
            "code" : "2833",
            "display" : "Stiff skin syndrome"
          },
          {
            "code" : "2834",
            "display" : "Wrinkly skin syndrome"
          },
          {
            "code" : "2835",
            "display" : "Pectus excavatum-macrocephaly-dysplastic nails syndrome"
          },
          {
            "code" : "2836",
            "display" : "PEHO syndrome"
          },
          {
            "code" : "28378",
            "display" : "Tyrosinemia type 2"
          },
          {
            "code" : "2838",
            "display" : "Renal caliceal diverticuli-deafness syndrome"
          },
          {
            "code" : "2839",
            "display" : "Pelvis-shoulder dysplasia"
          },
          {
            "code" : "284",
            "display" : "Alveolar echinococcosis"
          },
          {
            "code" : "2840",
            "display" : "Pelvic dysplasia-arthrogryposis of lower limbs syndrome"
          },
          {
            "code" : "2841",
            "display" : "Familial benign chronic pemphigus"
          },
          {
            "code" : "284139",
            "display" : "Larsen-like syndrome, B3GAT3 type"
          },
          {
            "code" : "284149",
            "display" : "Craniosynostosis-dental anomalies"
          },
          {
            "code" : "284160",
            "display" : "8q21.11 microdeletion syndrome"
          },
          {
            "code" : "284169",
            "display" : "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion"
          },
          {
            "code" : "284180",
            "display" : "Xp22.13p22.2 duplication syndrome"
          },
          {
            "code" : "2842",
            "display" : "Penoscrotal transposition"
          },
          {
            "code" : "284227",
            "display" : "TEMPI syndrome"
          },
          {
            "code" : "284232",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2O"
          },
          {
            "code" : "284247",
            "display" : "Familial retinal arterial macroaneurysm"
          },
          {
            "code" : "284271",
            "display" : "Autosomal recessive cerebellar ataxia-psychomotor delay syndrome"
          },
          {
            "code" : "284282",
            "display" : "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency"
          },
          {
            "code" : "284289",
            "display" : "Adult-onset autosomal recessive cerebellar ataxia"
          },
          {
            "code" : "2843",
            "display" : "Pentosuria"
          },
          {
            "code" : "284324",
            "display" : "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia"
          },
          {
            "code" : "284332",
            "display" : "Infantile-onset autosomal recessive nonprogressive cerebellar ataxia"
          },
          {
            "code" : "284339",
            "display" : "Pontocerebellar hypoplasia type 7"
          },
          {
            "code" : "284343",
            "display" : "DICER1 tumor-predisposition syndrome"
          },
          {
            "code" : "284362",
            "display" : "Fetal lung interstitial tumor"
          },
          {
            "code" : "284388",
            "display" : "Reversible cerebral vasoconstriction syndrome"
          },
          {
            "code" : "284395",
            "display" : "Well-differentiated fetal adenocarcinoma of the lung"
          },
          {
            "code" : "284400",
            "display" : "Small cell carcinoma of the bladder"
          },
          {
            "code" : "284411",
            "display" : "Glycerol kinase deficiency, juvenile form"
          },
          {
            "code" : "284414",
            "display" : "Glycerol kinase deficiency, adult form"
          },
          {
            "code" : "284417",
            "display" : "Phosphoserine aminotransferase deficiency, infantile/juvenile form"
          },
          {
            "code" : "284426",
            "display" : "Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency"
          },
          {
            "code" : "284435",
            "display" : "Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency"
          },
          {
            "code" : "284448",
            "display" : "CLIPPERS"
          },
          {
            "code" : "284454",
            "display" : "Acute zonal occult outer retinopathy"
          },
          {
            "code" : "284460",
            "display" : "Acute annular outer retinopathy"
          },
          {
            "code" : "2847",
            "display" : "Pericardial and diaphragmatic defect"
          },
          {
            "code" : "2848",
            "display" : "Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome"
          },
          {
            "code" : "2849",
            "display" : "Perlman syndrome"
          },
          {
            "code" : "284963",
            "display" : "Marfan syndrome type 1"
          },
          {
            "code" : "284973",
            "display" : "Marfan syndrome type 2"
          },
          {
            "code" : "284979",
            "display" : "Neonatal Marfan syndrome"
          },
          {
            "code" : "284984",
            "display" : "Aneurysm-osteoarthritis syndrome"
          },
          {
            "code" : "285",
            "display" : "Hypermobile Ehlers-Danlos syndrome"
          },
          {
            "code" : "2850",
            "display" : "Alopecia-intellectual disability syndrome"
          },
          {
            "code" : "2854",
            "display" : "Fuhrmann syndrome"
          },
          {
            "code" : "2855",
            "display" : "Perrault syndrome"
          },
          {
            "code" : "2856",
            "display" : "Persistent Müllerian duct syndrome"
          },
          {
            "code" : "286",
            "display" : "Vascular Ehlers-Danlos syndrome"
          },
          {
            "code" : "2863",
            "display" : "Short stature-wormian bones-dextrocardia syndrome"
          },
          {
            "code" : "2865",
            "display" : "Short stature-webbed neck-heart disease syndrome"
          },
          {
            "code" : "2866",
            "display" : "Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome"
          },
          {
            "code" : "2867",
            "display" : "Short stature, Brussels type"
          },
          {
            "code" : "2868",
            "display" : "Short stature-valvular heart disease-characteristic facies syndrome"
          },
          {
            "code" : "2869",
            "display" : "Peutz-Jeghers syndrome"
          },
          {
            "code" : "287",
            "display" : "Classical Ehlers-Danlos syndrome"
          },
          {
            "code" : "2871",
            "display" : "Pfeiffer-Palm-Teller syndrome"
          },
          {
            "code" : "2872",
            "display" : "Cardiocranial syndrome, Pfeiffer type"
          },
          {
            "code" : "2874",
            "display" : "Phakomatosis pigmentokeratotica"
          },
          {
            "code" : "2875",
            "display" : "Phakomatosis pigmentovascularis"
          },
          {
            "code" : "2876",
            "display" : "PHAVER syndrome"
          },
          {
            "code" : "2878",
            "display" : "Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome"
          },
          {
            "code" : "2879",
            "display" : "Phocomelia, Schinzel type"
          },
          {
            "code" : "288",
            "display" : "Hereditary elliptocytosis"
          },
          {
            "code" : "2880",
            "display" : "Phosphoenolpyruvate carboxykinase deficiency"
          },
          {
            "code" : "2881",
            "display" : "Cutaneous photosensitivity-lethal colitis syndrome"
          },
          {
            "code" : "2882",
            "display" : "Sitosterolemia"
          },
          {
            "code" : "2884",
            "display" : "Piebaldism"
          },
          {
            "code" : "2885",
            "display" : "Piebald trait-neurologic defects syndrome"
          },
          {
            "code" : "2886",
            "display" : "TARP syndrome"
          },
          {
            "code" : "2888",
            "display" : "Pierre Robin syndrome-faciodigital anomaly syndrome"
          },
          {
            "code" : "2889",
            "display" : "Pili torti"
          },
          {
            "code" : "289",
            "display" : "Ellis Van Creveld syndrome"
          },
          {
            "code" : "2890",
            "display" : "Pili torti-onychodysplasia syndrome"
          },
          {
            "code" : "2891",
            "display" : "Pili torti-developmental delay-neurological abnormalities syndrome"
          },
          {
            "code" : "289157",
            "display" : "Hypocalcemic vitamin D-dependent rickets"
          },
          {
            "code" : "289176",
            "display" : "Autosomal recessive hypophosphatemic rickets"
          },
          {
            "code" : "2892",
            "display" : "Pilodental dysplasia-refractive errors syndrome"
          },
          {
            "code" : "289266",
            "display" : "Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation"
          },
          {
            "code" : "289290",
            "display" : "Hypermethioninemia encephalopathy due to adenosine kinase deficiency"
          },
          {
            "code" : "289307",
            "display" : "Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency"
          },
          {
            "code" : "289326",
            "display" : "Tropical spastic paraparesis"
          },
          {
            "code" : "289347",
            "display" : "Infective dermatitis associated with HTLV-1"
          },
          {
            "code" : "289356",
            "display" : "Primary non-gestational choriocarcinoma of ovary"
          },
          {
            "code" : "289362",
            "display" : "Non-central nervous system-localized embryonal carcinoma"
          },
          {
            "code" : "289365",
            "display" : "Familial vesicoureteral reflux"
          },
          {
            "code" : "289377",
            "display" : "Early-onset myopathy with fatal cardiomyopathy"
          },
          {
            "code" : "289380",
            "display" : "Myosclerosis"
          },
          {
            "code" : "289385",
            "display" : "Malignancy diagnosed during pregnancy"
          },
          {
            "code" : "289390",
            "display" : "Primary Sjögren syndrome"
          },
          {
            "code" : "289465",
            "display" : "Isolated congenital adermatoglyphia"
          },
          {
            "code" : "289478",
            "display" : "PASH syndrome"
          },
          {
            "code" : "289483",
            "display" : "Intellectual disability-alacrima-achalasia syndrome"
          },
          {
            "code" : "289494",
            "display" : "4H leukodystrophy"
          },
          {
            "code" : "289499",
            "display" : "Congenital cataract microcornea with corneal opacity"
          },
          {
            "code" : "289504",
            "display" : "Combined malonic and methylmalonic acidemia"
          },
          {
            "code" : "289513",
            "display" : "12q15q21.1 microdeletion syndrome"
          },
          {
            "code" : "289522",
            "display" : "Microtriplication 11q24.1"
          },
          {
            "code" : "289539",
            "display" : "BAP1-related tumor predisposition syndrome"
          },
          {
            "code" : "289548",
            "display" : "Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency"
          },
          {
            "code" : "289553",
            "display" : "Dysmorphism-conductive hearing loss-heart defect syndrome"
          },
          {
            "code" : "289560",
            "display" : "Mitochondrial membrane protein-associated neurodegeneration"
          },
          {
            "code" : "289586",
            "display" : "Exfoliative ichthyosis"
          },
          {
            "code" : "289596",
            "display" : "Juvenile nasopharyngeal angiofibroma"
          },
          {
            "code" : "2896",
            "display" : "Pitt-Hopkins syndrome"
          },
          {
            "code" : "289601",
            "display" : "Hereditary arterial and articular multiple calcification syndrome"
          },
          {
            "code" : "289661",
            "display" : "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly"
          },
          {
            "code" : "289666",
            "display" : "Plasmablastic lymphoma"
          },
          {
            "code" : "289682",
            "display" : "Lymphoepithelial-like carcinoma"
          },
          {
            "code" : "289685",
            "display" : "Myopericytoma"
          },
          {
            "code" : "2897",
            "display" : "Pityriasis rubra pilaris"
          },
          {
            "code" : "2898",
            "display" : "X-linked intellectual disability-plagiocephaly syndrome"
          },
          {
            "code" : "289846",
            "display" : "Glutathione synthetase deficiency with 5-oxoprolinuria"
          },
          {
            "code" : "289849",
            "display" : "Glutathione synthetase deficiency without 5-oxoprolinuria"
          },
          {
            "code" : "289857",
            "display" : "Neonatal glycine encephalopathy"
          },
          {
            "code" : "289860",
            "display" : "Infantile glycine encephalopathy"
          },
          {
            "code" : "289863",
            "display" : "Atypical glycine encephalopathy"
          },
          {
            "code" : "289877",
            "display" : "Transient hyperammonemia of the newborn"
          },
          {
            "code" : "289891",
            "display" : "Hypermethioninemia due to glycine N-methyltransferase deficiency"
          },
          {
            "code" : "2899",
            "display" : "Brachyolmia-amelogenesis imperfecta syndrome"
          },
          {
            "code" : "289916",
            "display" : "Vitamin B12-unresponsive methylmalonic acidemia type mut0"
          },
          {
            "code" : "29",
            "display" : "Mevalonic aciduria"
          },
          {
            "code" : "290",
            "display" : "Congenital rubella syndrome"
          },
          {
            "code" : "2900",
            "display" : "Leri pleonosteosis"
          },
          {
            "code" : "2901",
            "display" : "Neuralgic amyotrophy"
          },
          {
            "code" : "2902",
            "display" : "Idiopathic chronic eosinophilic pneumonia"
          },
          {
            "code" : "2903",
            "display" : "Familial spontaneous pneumothorax"
          },
          {
            "code" : "2905",
            "display" : "POEMS syndrome"
          },
          {
            "code" : "2907",
            "display" : "Hereditary acrokeratotic poikiloderma"
          },
          {
            "code" : "29072",
            "display" : "Hereditary pheochromocytoma-paraganglioma"
          },
          {
            "code" : "29073",
            "display" : "Multiple myeloma"
          },
          {
            "code" : "2908",
            "display" : "Kindler epidermolysis bullosa"
          },
          {
            "code" : "2909",
            "display" : "Rothmund-Thomson syndrome"
          },
          {
            "code" : "291",
            "display" : "Congenital varicella syndrome"
          },
          {
            "code" : "2911",
            "display" : "Poland syndrome"
          },
          {
            "code" : "2912",
            "display" : "Poliomyelitis"
          },
          {
            "code" : "2916",
            "display" : "Postaxial polydactyly-dental and vertebral anomalies syndrome"
          },
          {
            "code" : "2917",
            "display" : "Polydactyly-myopia syndrome"
          },
          {
            "code" : "2919",
            "display" : "Orofaciodigital syndrome type 5"
          },
          {
            "code" : "292",
            "display" : "Congenital enterovirus infection"
          },
          {
            "code" : "2920",
            "display" : "Oliver syndrome"
          },
          {
            "code" : "29207",
            "display" : "Reactive arthritis"
          },
          {
            "code" : "2921",
            "display" : "Preaxial polydactyly-colobomata-intellectual disability syndrome"
          },
          {
            "code" : "2924",
            "display" : "Isolated polycystic liver disease"
          },
          {
            "code" : "2926",
            "display" : "Digital extensor muscle aplasia-polyneuropathy"
          },
          {
            "code" : "2928",
            "display" : "Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome"
          },
          {
            "code" : "2929",
            "display" : "Juvenile polyposis syndrome"
          },
          {
            "code" : "293",
            "display" : "Congenital herpes simplex virus infection"
          },
          {
            "code" : "2930",
            "display" : "Cronkhite-Canada syndrome"
          },
          {
            "code" : "293144",
            "display" : "Familial clubfoot due to 5q31 microdeletion"
          },
          {
            "code" : "293150",
            "display" : "Familial clubfoot due to PITX1 point mutation"
          },
          {
            "code" : "293165",
            "display" : "Skin fragility-woolly hair-palmoplantar keratoderma syndrome"
          },
          {
            "code" : "293168",
            "display" : "Infantile-onset ascending hereditary spastic paralysis"
          },
          {
            "code" : "293173",
            "display" : "Acute generalized exanthematous pustulosis"
          },
          {
            "code" : "293181",
            "display" : "Malignant migrating focal seizures of infancy"
          },
          {
            "code" : "293199",
            "display" : "Pleomorphic rhabdomyosarcoma"
          },
          {
            "code" : "2932",
            "display" : "Chronic inflammatory demyelinating polyneuropathy"
          },
          {
            "code" : "293202",
            "display" : "Epithelioid sarcoma"
          },
          {
            "code" : "293208",
            "display" : "Celiac artery compression syndrome"
          },
          {
            "code" : "293284",
            "display" : "Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria"
          },
          {
            "code" : "293375",
            "display" : "Grayson-Wilbrandt corneal dystrophy"
          },
          {
            "code" : "293381",
            "display" : "Epithelial recurrent erosion dystrophy"
          },
          {
            "code" : "2934",
            "display" : "Polysyndactyly-cardiac malformation syndrome"
          },
          {
            "code" : "293462",
            "display" : "Pre-Descemet corneal dystrophy"
          },
          {
            "code" : "2935",
            "display" : "Crossed polysyndactyly"
          },
          {
            "code" : "293603",
            "display" : "Congenital hereditary endothelial dystrophy type II"
          },
          {
            "code" : "293621",
            "display" : "X-linked endothelial corneal dystrophy"
          },
          {
            "code" : "293633",
            "display" : "PYCR1-related De Barsy syndrome"
          },
          {
            "code" : "293707",
            "display" : "Blepharophimosis-intellectual disability syndrome, MKB type"
          },
          {
            "code" : "293725",
            "display" : "Blepharophimosis-intellectual disability syndrome, Verloes type"
          },
          {
            "code" : "293807",
            "display" : "Ketamine-induced biliary dilatation"
          },
          {
            "code" : "293812",
            "display" : "Fixed drug eruption"
          },
          {
            "code" : "293822",
            "display" : "MITF-related melanoma and renal cell carcinoma predisposition syndrome"
          },
          {
            "code" : "293825",
            "display" : "Congenital dyserythropoietic anemia type IV"
          },
          {
            "code" : "293843",
            "display" : "3MC syndrome"
          },
          {
            "code" : "293864",
            "display" : "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome"
          },
          {
            "code" : "293888",
            "display" : "Familial isolated arrhythmogenic ventricular dysplasia, left dominant form"
          },
          {
            "code" : "293899",
            "display" : "Familial isolated arrhythmogenic ventricular dysplasia, biventricular form"
          },
          {
            "code" : "293910",
            "display" : "Familial isolated arrhythmogenic ventricular dysplasia, right dominant form"
          },
          {
            "code" : "293925",
            "display" : "Lethal occipital encephalocele-skeletal dysplasia syndrome"
          },
          {
            "code" : "293936",
            "display" : "EDICT syndrome"
          },
          {
            "code" : "293939",
            "display" : "Distal Xq28 microduplication syndrome"
          },
          {
            "code" : "293948",
            "display" : "1p21.3 microdeletion syndrome"
          },
          {
            "code" : "293955",
            "display" : "Childhood encephalopathy due to thiamine pyrophosphokinase deficiency"
          },
          {
            "code" : "293958",
            "display" : "Hypertelorism-preauricular sinus-punctual pits-deafness syndrome"
          },
          {
            "code" : "293964",
            "display" : "Hypoinsulinemic hypoglycemia and body hemihypertrophy"
          },
          {
            "code" : "293967",
            "display" : "Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome"
          },
          {
            "code" : "293978",
            "display" : "Deficiency in anterior pituitary function-variable immunodeficiency syndrome"
          },
          {
            "code" : "293987",
            "display" : "Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome"
          },
          {
            "code" : "294",
            "display" : "Fetal cytomegalovirus syndrome"
          },
          {
            "code" : "2940",
            "display" : "Porencephaly"
          },
          {
            "code" : "294016",
            "display" : "Microcephaly-capillary malformation syndrome"
          },
          {
            "code" : "294023",
            "display" : "Neonatal inflammatory skin and bowel disease"
          },
          {
            "code" : "294026",
            "display" : "Syndactyly-nystagmus syndrome due to 2q31.1 microduplication"
          },
          {
            "code" : "2941",
            "display" : "Porencephaly-cerebellar hypoplasia-internal malformations syndrome"
          },
          {
            "code" : "2942",
            "display" : "Postpoliomyelitis syndrome"
          },
          {
            "code" : "294415",
            "display" : "Renal-hepatic-pancreatic dysplasia"
          },
          {
            "code" : "294422",
            "display" : "Chronic intestinal failure"
          },
          {
            "code" : "2946",
            "display" : "Brachydactyly-long thumb syndrome"
          },
          {
            "code" : "2947",
            "display" : "Triphalangeal thumbs-brachyectrodactyly syndrome"
          },
          {
            "code" : "294967",
            "display" : "Amelia of upper limb"
          },
          {
            "code" : "294969",
            "display" : "Amelia of lower limb"
          },
          {
            "code" : "294971",
            "display" : "Tetra-amelia"
          },
          {
            "code" : "294973",
            "display" : "Humeral agenesis/hypoplasia"
          },
          {
            "code" : "294975",
            "display" : "Congenital absence of upper arm and forearm with hand present"
          },
          {
            "code" : "294977",
            "display" : "Congenital absence of thigh and lower leg with foot present"
          },
          {
            "code" : "294979",
            "display" : "Congenital absence of both forearm and hand"
          },
          {
            "code" : "294981",
            "display" : "Congenital absence of both lower leg and foot"
          },
          {
            "code" : "294983",
            "display" : "Acheiria"
          },
          {
            "code" : "294986",
            "display" : "Apodia"
          },
          {
            "code" : "294988",
            "display" : "Congenital hypoplasia of thumb"
          },
          {
            "code" : "295",
            "display" : "Fetal parvovirus syndrome"
          },
          {
            "code" : "295000",
            "display" : "Constriction rings syndrome"
          },
          {
            "code" : "295002",
            "display" : "Hyperphalangy"
          },
          {
            "code" : "295004",
            "display" : "Central polydactyly"
          },
          {
            "code" : "295012",
            "display" : "Syndactyly type 6"
          },
          {
            "code" : "295014",
            "display" : "Familial isolated clinodactyly of fingers"
          },
          {
            "code" : "295016",
            "display" : "Camptodactyly of fingers"
          },
          {
            "code" : "295018",
            "display" : "Congenital pseudoarthrosis of the tibia"
          },
          {
            "code" : "295020",
            "display" : "Congenital pseudoarthrosis of the femur"
          },
          {
            "code" : "295022",
            "display" : "Congenital pseudoarthrosis of the fibula"
          },
          {
            "code" : "295024",
            "display" : "Congenital pseudoarthrosis of the radius"
          },
          {
            "code" : "295026",
            "display" : "Congenital pseudoarthrosis of the ulna"
          },
          {
            "code" : "295028",
            "display" : "Tibio-fibular synostosis"
          },
          {
            "code" : "295030",
            "display" : "True congenital shoulder dislocation"
          },
          {
            "code" : "295032",
            "display" : "Isolated congenital radial head dislocation"
          },
          {
            "code" : "295034",
            "display" : "Congenital knee dislocation"
          },
          {
            "code" : "295036",
            "display" : "Congenital patella dislocation"
          },
          {
            "code" : "295044",
            "display" : "Macrodactyly of fingers"
          },
          {
            "code" : "295047",
            "display" : "Macrodactyly of toes"
          },
          {
            "code" : "295049",
            "display" : "Upper limb hypertrophy"
          },
          {
            "code" : "295051",
            "display" : "Lower limb hypertrophy"
          },
          {
            "code" : "2951",
            "display" : "Absent thumb-short stature-immunodeficiency syndrome"
          },
          {
            "code" : "295187",
            "display" : "Zygodactyly type 1"
          },
          {
            "code" : "295189",
            "display" : "Zygodactyly type 2"
          },
          {
            "code" : "295191",
            "display" : "Zygodactyly type 3"
          },
          {
            "code" : "295193",
            "display" : "Zygodactyly type 4"
          },
          {
            "code" : "295195",
            "display" : "Synpolydactyly type 1"
          },
          {
            "code" : "295197",
            "display" : "Synpolydactyly type 2"
          },
          {
            "code" : "295199",
            "display" : "Synpolydactyly type 3"
          },
          {
            "code" : "2952",
            "display" : "Adducted thumbs-arthrogryposis syndrome, Christian type"
          },
          {
            "code" : "295201",
            "display" : "Congenital vertical talus, unilateral"
          },
          {
            "code" : "295203",
            "display" : "Congenital vertical talus, bilateral"
          },
          {
            "code" : "295213",
            "display" : "Humero-ulnar synostosis, unilateral"
          },
          {
            "code" : "295215",
            "display" : "Humero-ulnar synostosis, bilateral"
          },
          {
            "code" : "295217",
            "display" : "Radio-ulnar synostosis, unilateral"
          },
          {
            "code" : "295219",
            "display" : "Radio-ulnar synostosis, bilateral"
          },
          {
            "code" : "295225",
            "display" : "Congenital elbow dislocation, unilateral"
          },
          {
            "code" : "295227",
            "display" : "Congenital elbow dislocation, bilateral"
          },
          {
            "code" : "295229",
            "display" : "Congenital genu recurvatum"
          },
          {
            "code" : "295232",
            "display" : "Congenital genu flexum"
          },
          {
            "code" : "295239",
            "display" : "Macrodactyly of fingers, unilateral"
          },
          {
            "code" : "295241",
            "display" : "Macrodactyly of fingers, bilateral"
          },
          {
            "code" : "295243",
            "display" : "Macrodactyly of toes, unilateral"
          },
          {
            "code" : "295245",
            "display" : "Macrodactyly of toes, bilateral"
          },
          {
            "code" : "2953",
            "display" : "Musculocontractural Ehlers-Danlos syndrome"
          },
          {
            "code" : "2956",
            "display" : "Acrodysplasia scoliosis"
          },
          {
            "code" : "2957",
            "display" : "Guttmacher syndrome"
          },
          {
            "code" : "2958",
            "display" : "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome"
          },
          {
            "code" : "2959",
            "display" : "Progeria-short stature-pigmented nevi syndrome"
          },
          {
            "code" : "296",
            "display" : "Ollier disease"
          },
          {
            "code" : "2962",
            "display" : "De Barsy syndrome"
          },
          {
            "code" : "2963",
            "display" : "Progeroid syndrome, Petty type"
          },
          {
            "code" : "2964",
            "display" : "Autosomal dominant prognathism"
          },
          {
            "code" : "2965",
            "display" : "Prolactinoma"
          },
          {
            "code" : "2966",
            "display" : "Properdin deficiency"
          },
          {
            "code" : "2967",
            "display" : "Transcobalamin I deficiency"
          },
          {
            "code" : "2968",
            "display" : "Leukocyte adhesion deficiency"
          },
          {
            "code" : "2969",
            "display" : "Proteus-like syndrome"
          },
          {
            "code" : "297",
            "display" : "Tick-borne encephalitis"
          },
          {
            "code" : "2970",
            "display" : "Prune belly syndrome"
          },
          {
            "code" : "2971",
            "display" : "Peroxisomal acyl-CoA oxidase deficiency"
          },
          {
            "code" : "2972",
            "display" : "Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome"
          },
          {
            "code" : "2973",
            "display" : "46,XX difference of sex development-anorectal anomalies syndrome"
          },
          {
            "code" : "2975",
            "display" : "46,XX difference of sex development-skeletal anomalies syndrome"
          },
          {
            "code" : "2976",
            "display" : "Pseudoleprechaunism syndrome, Patterson type"
          },
          {
            "code" : "2978",
            "display" : "Chronic intestinal pseudoobstruction"
          },
          {
            "code" : "298",
            "display" : "Mitochondrial neurogastrointestinal encephalomyopathy"
          },
          {
            "code" : "2980",
            "display" : "Acrootoocular syndrome"
          },
          {
            "code" : "29822",
            "display" : "Spontaneous periodic hypothermia"
          },
          {
            "code" : "2983",
            "display" : "Difference of sex development-intellectual disability syndrome"
          },
          {
            "code" : "2985",
            "display" : "Pseudoprogeria syndrome"
          },
          {
            "code" : "2987",
            "display" : "Antecubital pterygium syndrome"
          },
          {
            "code" : "2988",
            "display" : "Pterygium colli-intellectual disability-digital anomalies syndrome"
          },
          {
            "code" : "2989",
            "display" : "Familial pterygium of the conjunctiva"
          },
          {
            "code" : "2990",
            "display" : "Autosomal recessive multiple pterygium syndrome"
          },
          {
            "code" : "2994",
            "display" : "Short stature-craniofacial anomalies-genital hypoplasia syndrome"
          },
          {
            "code" : "2995",
            "display" : "Baraitser-Winter cerebrofrontofacial syndrome"
          },
          {
            "code" : "2997",
            "display" : "Ptosis-vocal cord paralysis syndrome"
          },
          {
            "code" : "2999",
            "display" : "Ptosis-strabismus-ectopic pupils syndrome"
          },
          {
            "code" : "30",
            "display" : "Hereditary orotic aciduria"
          },
          {
            "code" : "300",
            "display" : "Bifunctional enzyme deficiency"
          },
          {
            "code" : "3000",
            "display" : "Familial peripheral male-limited precocious puberty"
          },
          {
            "code" : "300179",
            "display" : "Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency"
          },
          {
            "code" : "3002",
            "display" : "Immune thrombocytopenia"
          },
          {
            "code" : "300284",
            "display" : "Connective tissue disorder due to lysyl hydroxylase-3 deficiency"
          },
          {
            "code" : "300293",
            "display" : "Transient infantile hypertriglyceridemia and hepatosteatosis"
          },
          {
            "code" : "300298",
            "display" : "Severe congenital hypochromic anemia with ringed sideroblasts"
          },
          {
            "code" : "3003",
            "display" : "Pyknoachondrogenesis"
          },
          {
            "code" : "300305",
            "display" : "11p15.4 microduplication syndrome"
          },
          {
            "code" : "300313",
            "display" : "Congenital cataract-hearing loss-severe developmental delay syndrome"
          },
          {
            "code" : "300319",
            "display" : "Charcot-Marie-Tooth disease type 2P"
          },
          {
            "code" : "300324",
            "display" : "Persistent polyclonal B-cell lymphocytosis"
          },
          {
            "code" : "300333",
            "display" : "Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome"
          },
          {
            "code" : "300345",
            "display" : "Autosomal systemic lupus erythematosus"
          },
          {
            "code" : "300359",
            "display" : "PLCG2-associated antibody deficiency and immune dysregulation"
          },
          {
            "code" : "300373",
            "display" : "X-linked acrogigantism"
          },
          {
            "code" : "300382",
            "display" : "Progeroid and marfanoid aspect-lipodystrophy syndrome"
          },
          {
            "code" : "300385",
            "display" : "Pituitary carcinoma"
          },
          {
            "code" : "3004",
            "display" : "Mirror polydactyly-vertebral segmentation-limbs defects syndrome"
          },
          {
            "code" : "300493",
            "display" : "Sagliker syndrome"
          },
          {
            "code" : "300496",
            "display" : "Multiple congenital anomalies-hypotonia-seizures syndrome type 2"
          },
          {
            "code" : "3005",
            "display" : "Pyle disease"
          },
          {
            "code" : "300501",
            "display" : "Painful orbital and systemic neurofibromas-marfanoid habitus syndrome"
          },
          {
            "code" : "300504",
            "display" : "Onychocytic matricoma"
          },
          {
            "code" : "300512",
            "display" : "Onychomatricoma"
          },
          {
            "code" : "300525",
            "display" : "Pseudohypoaldosteronism type 2D"
          },
          {
            "code" : "300530",
            "display" : "Pseudohypoaldosteronism type 2E"
          },
          {
            "code" : "300536",
            "display" : "DDOST-CDG"
          },
          {
            "code" : "300547",
            "display" : "Autosomal recessive infantile hypercalcemia"
          },
          {
            "code" : "300552",
            "display" : "Follicular cholangitis and pancreatitis"
          },
          {
            "code" : "300557",
            "display" : "Carcinoma of the ampulla of Vater"
          },
          {
            "code" : "300564",
            "display" : "Combined pulmonary fibrosis-emphysema syndrome"
          },
          {
            "code" : "300570",
            "display" : "Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation"
          },
          {
            "code" : "300573",
            "display" : "Polymicrogyria due to TUBB2B mutation"
          },
          {
            "code" : "300576",
            "display" : "Oligodontia-cancer predisposition syndrome"
          },
          {
            "code" : "3006",
            "display" : "Pyridoxine-dependent epilepsy"
          },
          {
            "code" : "300605",
            "display" : "Juvenile amyotrophic lateral sclerosis"
          },
          {
            "code" : "300751",
            "display" : "Familial dilated cardiomyopathy with conduction defect due to LMNA mutation"
          },
          {
            "code" : "3008",
            "display" : "Pyruvate carboxylase deficiency"
          },
          {
            "code" : "300849",
            "display" : "Diffuse large B-cell lymphoma of the central nervous system"
          },
          {
            "code" : "300857",
            "display" : "T-cell/histiocyte rich large B cell lymphoma"
          },
          {
            "code" : "300865",
            "display" : "Primary cutaneous anaplastic large cell lymphoma"
          },
          {
            "code" : "300869",
            "display" : "Splenic diffuse red pulp small B-cell lymphoma"
          },
          {
            "code" : "300878",
            "display" : "Hairy cell leukemia variant"
          },
          {
            "code" : "300888",
            "display" : "Diffuse large B-cell lymphoma with chronic inflammation"
          },
          {
            "code" : "300895",
            "display" : "ALK-positive anaplastic large cell lymphoma"
          },
          {
            "code" : "300903",
            "display" : "ALK-negative anaplastic large cell lymphoma"
          },
          {
            "code" : "3010",
            "display" : "Qazi-Markouizos syndrome"
          },
          {
            "code" : "3011",
            "display" : "Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome"
          },
          {
            "code" : "3015",
            "display" : "Radio-renal syndrome"
          },
          {
            "code" : "3016",
            "display" : "Absent radius-anogenital anomalies syndrome"
          },
          {
            "code" : "3018",
            "display" : "Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome"
          },
          {
            "code" : "3019",
            "display" : "Ramon syndrome"
          },
          {
            "code" : "302",
            "display" : "Epidermodysplasia verruciformis"
          },
          {
            "code" : "3020",
            "display" : "Ramsay Hunt syndrome"
          },
          {
            "code" : "3021",
            "display" : "RAPADILINO syndrome"
          },
          {
            "code" : "3023",
            "display" : "External auditory canal atresia-vertical talus-hypertelorism syndrome"
          },
          {
            "code" : "3026",
            "display" : "Radial ray hypoplasia-choanal atresia syndrome"
          },
          {
            "code" : "3027",
            "display" : "Caudal regression syndrome"
          },
          {
            "code" : "3032",
            "display" : "NPHP3-related Meckel-like syndrome"
          },
          {
            "code" : "3033",
            "display" : "Renal tubular dysgenesis"
          },
          {
            "code" : "3034",
            "display" : "Delayed membranous cranial ossification"
          },
          {
            "code" : "3035",
            "display" : "Growth delay-hydrocephaly-lung hypoplasia syndrome"
          },
          {
            "code" : "3038",
            "display" : "Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome"
          },
          {
            "code" : "30391",
            "display" : "Isolated biliary atresia"
          },
          {
            "code" : "3041",
            "display" : "Intellectual disability-balding-patella luxation-acromicria syndrome"
          },
          {
            "code" : "3042",
            "display" : "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome"
          },
          {
            "code" : "3044",
            "display" : "Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome"
          },
          {
            "code" : "3047",
            "display" : "Blepharophimosis-intellectual disability syndrome, SBBYS type"
          },
          {
            "code" : "3051",
            "display" : "Nicolaides-Baraitser syndrome"
          },
          {
            "code" : "3052",
            "display" : "X-linked intellectual disability-seizures-psoriasis syndrome"
          },
          {
            "code" : "3055",
            "display" : "X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome"
          },
          {
            "code" : "3057",
            "display" : "Monoamine oxidase A deficiency"
          },
          {
            "code" : "306",
            "display" : "Benign familial infantile epilepsy"
          },
          {
            "code" : "3063",
            "display" : "X-linked intellectual disability, Snyder type"
          },
          {
            "code" : "306431",
            "display" : "Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies"
          },
          {
            "code" : "306504",
            "display" : "Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome"
          },
          {
            "code" : "306511",
            "display" : "Autosomal recessive spastic paraplegia type 48"
          },
          {
            "code" : "306516",
            "display" : "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis"
          },
          {
            "code" : "306527",
            "display" : "Isolated hereditary congenital facial paralysis"
          },
          {
            "code" : "306530",
            "display" : "Congenital hereditary facial paralysis-variable hearing loss syndrome"
          },
          {
            "code" : "306542",
            "display" : "Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome"
          },
          {
            "code" : "306547",
            "display" : "Porencephaly-microcephaly-bilateral congenital cataract syndrome"
          },
          {
            "code" : "306550",
            "display" : "FADD-related immunodeficiency"
          },
          {
            "code" : "306553",
            "display" : "Myospherulosis"
          },
          {
            "code" : "306558",
            "display" : "Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome"
          },
          {
            "code" : "306577",
            "display" : "Sodium channelopathy-related small fiber neuropathy"
          },
          {
            "code" : "306617",
            "display" : "X-linked complicated spastic paraplegia type 1"
          },
          {
            "code" : "306644",
            "display" : "Complication after organ transplantation"
          },
          {
            "code" : "306658",
            "display" : "Familial normophosphatemic tumoral calcinosis"
          },
          {
            "code" : "306661",
            "display" : "Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome"
          },
          {
            "code" : "306669",
            "display" : "Hemiparkinsonism-hemiatrophy syndrome"
          },
          {
            "code" : "306674",
            "display" : "Kufor-Rakeb syndrome"
          },
          {
            "code" : "306682",
            "display" : "Manganese poisoning"
          },
          {
            "code" : "306686",
            "display" : "Delayed encephalopathy due to carbon monoxide poisoning"
          },
          {
            "code" : "306692",
            "display" : "Cyanide-induced parkinsonism-dystonia"
          },
          {
            "code" : "306731",
            "display" : "Sydenham chorea"
          },
          {
            "code" : "306734",
            "display" : "Primary dystonia, DYT21 type"
          },
          {
            "code" : "306741",
            "display" : "Hemidystonia-hemiatrophy syndrome"
          },
          {
            "code" : "306776",
            "display" : "Sporadic hyperekplexia"
          },
          {
            "code" : "3068",
            "display" : "Intellectual disability-myopathy-short stature-endocrine defect syndrome"
          },
          {
            "code" : "307",
            "display" : "Juvenile myoclonic epilepsy"
          },
          {
            "code" : "3071",
            "display" : "Costello syndrome"
          },
          {
            "code" : "3074",
            "display" : "Intellectual disability-short stature-hypertelorism syndrome"
          },
          {
            "code" : "3077",
            "display" : "X-linked intellectual disability-psychosis-macroorchidism syndrome"
          },
          {
            "code" : "307766",
            "display" : "Curly hair-acral keratoderma-caries syndrome"
          },
          {
            "code" : "3078",
            "display" : "Severe X-linked intellectual disability, Gustavson type"
          },
          {
            "code" : "3079",
            "display" : "Intellectual disability, Buenos-Aires type"
          },
          {
            "code" : "307936",
            "display" : "Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome"
          },
          {
            "code" : "308",
            "display" : "Progressive myoclonic epilepsy type 1"
          },
          {
            "code" : "3080",
            "display" : "Intellectual disability, Wolff type"
          },
          {
            "code" : "308013",
            "display" : "Focal acral hyperkeratosis"
          },
          {
            "code" : "3082",
            "display" : "Intellectual disability-polydactyly-uncombable hair syndrome"
          },
          {
            "code" : "308380",
            "display" : "Methylcobalamin deficiency type cblDv1"
          },
          {
            "code" : "308386",
            "display" : "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A"
          },
          {
            "code" : "308393",
            "display" : "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B"
          },
          {
            "code" : "308400",
            "display" : "Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C"
          },
          {
            "code" : "308410",
            "display" : "Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency"
          },
          {
            "code" : "308425",
            "display" : "Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency"
          },
          {
            "code" : "308442",
            "display" : "Vitamin B12-responsive methylmalonic acidemia, type cblDv2"
          },
          {
            "code" : "308473",
            "display" : "Erythrocyte galactose epimerase deficiency"
          },
          {
            "code" : "308487",
            "display" : "Generalized galactose epimerase deficiency"
          },
          {
            "code" : "3085",
            "display" : "Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome"
          },
          {
            "code" : "308552",
            "display" : "Glycogen storage disease due to acid maltase deficiency, infantile onset"
          },
          {
            "code" : "3086",
            "display" : "Autosomal dominant vitreoretinochoroidopathy"
          },
          {
            "code" : "308621",
            "display" : "Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form"
          },
          {
            "code" : "308638",
            "display" : "Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form"
          },
          {
            "code" : "308655",
            "display" : "Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form"
          },
          {
            "code" : "308670",
            "display" : "Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form"
          },
          {
            "code" : "308684",
            "display" : "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form"
          },
          {
            "code" : "308698",
            "display" : "Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form"
          },
          {
            "code" : "308712",
            "display" : "Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form"
          },
          {
            "code" : "3088",
            "display" : "Revesz syndrome"
          },
          {
            "code" : "309015",
            "display" : "Familial lipoprotein lipase deficiency"
          },
          {
            "code" : "309020",
            "display" : "Familial apolipoprotein C-II deficiency"
          },
          {
            "code" : "309025",
            "display" : "Mevalonate kinase deficiency"
          },
          {
            "code" : "309031",
            "display" : "Pancreatic triacylglycerol lipase deficiency"
          },
          {
            "code" : "309108",
            "display" : "Pancreatic colipase deficiency"
          },
          {
            "code" : "309111",
            "display" : "Combined pancreatic lipase-colipase deficiency"
          },
          {
            "code" : "309147",
            "display" : "Hyper-beta-alaninemia"
          },
          {
            "code" : "309155",
            "display" : "Sandhoff disease, infantile form"
          },
          {
            "code" : "309162",
            "display" : "Sandhoff disease, juvenile form"
          },
          {
            "code" : "309169",
            "display" : "Sandhoff disease, adult form"
          },
          {
            "code" : "309178",
            "display" : "Tay-Sachs disease, B variant, infantile form"
          },
          {
            "code" : "309185",
            "display" : "Tay-Sachs disease, B variant, juvenile form"
          },
          {
            "code" : "309192",
            "display" : "Tay-Sachs disease, B variant, adult form"
          },
          {
            "code" : "3092",
            "display" : "Fixed subaortic stenosis"
          },
          {
            "code" : "309239",
            "display" : "Tay-Sachs disease, B1 variant"
          },
          {
            "code" : "30924",
            "display" : "Primary hypomagnesemia with secondary hypocalcemia"
          },
          {
            "code" : "309246",
            "display" : "GM2 gangliosidosis, AB variant"
          },
          {
            "code" : "30925",
            "display" : "Hereditary central diabetes insipidus"
          },
          {
            "code" : "309252",
            "display" : "Atypical Gaucher disease due to saposin C deficiency"
          },
          {
            "code" : "309256",
            "display" : "Metachromatic leukodystrophy, late infantile form"
          },
          {
            "code" : "309263",
            "display" : "Metachromatic leukodystrophy, juvenile form"
          },
          {
            "code" : "309271",
            "display" : "Metachromatic leukodystrophy, adult form"
          },
          {
            "code" : "309282",
            "display" : "Alpha-mannosidosis, infantile form"
          },
          {
            "code" : "309288",
            "display" : "Alpha-mannosidosis, adult form"
          },
          {
            "code" : "309297",
            "display" : "Mucopolysaccharidosis type 4A"
          },
          {
            "code" : "3093",
            "display" : "Congenital aortic valve stenosis"
          },
          {
            "code" : "309310",
            "display" : "Mucopolysaccharidosis type 4B"
          },
          {
            "code" : "309324",
            "display" : "Free sialic acid storage disease, infantile form"
          },
          {
            "code" : "309331",
            "display" : "Intermediate severe Salla disease"
          },
          {
            "code" : "309334",
            "display" : "Salla disease"
          },
          {
            "code" : "3095",
            "display" : "Atypical Rett syndrome"
          },
          {
            "code" : "3096",
            "display" : "Reye syndrome"
          },
          {
            "code" : "3097",
            "display" : "Meacham syndrome"
          },
          {
            "code" : "309789",
            "display" : "Rhizomelic chondrodysplasia punctata type 1"
          },
          {
            "code" : "309796",
            "display" : "Rhizomelic chondrodysplasia punctata type 2"
          },
          {
            "code" : "3098",
            "display" : "Rhizomelic syndrome, Urbach type"
          },
          {
            "code" : "309803",
            "display" : "Rhizomelic chondrodysplasia punctata type 3"
          },
          {
            "code" : "309854",
            "display" : "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome"
          },
          {
            "code" : "3099",
            "display" : "Rheumatic fever"
          },
          {
            "code" : "31",
            "display" : "Oxoglutaric aciduria"
          },
          {
            "code" : "3101",
            "display" : "Richieri Costa-da Silva syndrome"
          },
          {
            "code" : "3102",
            "display" : "Richieri Costa-Pereira syndrome"
          },
          {
            "code" : "3103",
            "display" : "Roberts syndrome"
          },
          {
            "code" : "3104",
            "display" : "Robin sequence-oligodactyly syndrome"
          },
          {
            "code" : "31043",
            "display" : "Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement"
          },
          {
            "code" : "3107",
            "display" : "Autosomal dominant Robinow syndrome"
          },
          {
            "code" : "3109",
            "display" : "Mayer-Rokitansky-Küster-Hauser syndrome"
          },
          {
            "code" : "3110",
            "display" : "Rombo syndrome"
          },
          {
            "code" : "3111",
            "display" : "Rotor syndrome"
          },
          {
            "code" : "31112",
            "display" : "Dermatofibrosarcoma protuberans"
          },
          {
            "code" : "3115",
            "display" : "Roussy-Lévy syndrome"
          },
          {
            "code" : "31150",
            "display" : "Tangier disease"
          },
          {
            "code" : "312",
            "display" : "Autosomal dominant epidermolytic ichthyosis"
          },
          {
            "code" : "31202",
            "display" : "Melioidosis"
          },
          {
            "code" : "31204",
            "display" : "Nocardiosis"
          },
          {
            "code" : "31205",
            "display" : "Rat-bite fever"
          },
          {
            "code" : "3121",
            "display" : "Ruvalcaba syndrome"
          },
          {
            "code" : "3124",
            "display" : "Saccharopinuria"
          },
          {
            "code" : "3129",
            "display" : "Sarcosinemia"
          },
          {
            "code" : "313",
            "display" : "Lamellar ichthyosis"
          },
          {
            "code" : "3130",
            "display" : "Satoyoshi syndrome"
          },
          {
            "code" : "3132",
            "display" : "Say-Barber-Miller syndrome"
          },
          {
            "code" : "3134",
            "display" : "SCARF syndrome"
          },
          {
            "code" : "3137",
            "display" : "Alpha-N-acetylgalactosaminidase deficiency"
          },
          {
            "code" : "313772",
            "display" : "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome"
          },
          {
            "code" : "313781",
            "display" : "20p13 microdeletion syndrome"
          },
          {
            "code" : "313795",
            "display" : "Jawad syndrome"
          },
          {
            "code" : "3138",
            "display" : "Ulnar-mammary syndrome"
          },
          {
            "code" : "313800",
            "display" : "Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome"
          },
          {
            "code" : "313808",
            "display" : "Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia"
          },
          {
            "code" : "313838",
            "display" : "Coats plus syndrome"
          },
          {
            "code" : "313846",
            "display" : "Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome"
          },
          {
            "code" : "313850",
            "display" : "Infantile cerebellar-retinal degeneration"
          },
          {
            "code" : "313855",
            "display" : "FGFR2-related bent bone dysplasia"
          },
          {
            "code" : "313884",
            "display" : "12p12.1 microdeletion syndrome"
          },
          {
            "code" : "313892",
            "display" : "Developmental and speech delay due to SOX5 deficiency"
          },
          {
            "code" : "313906",
            "display" : "Congenital pancreatic cyst"
          },
          {
            "code" : "313920",
            "display" : "Epstein-Barr virus-associated gastric carcinoma"
          },
          {
            "code" : "313936",
            "display" : "PENS syndrome"
          },
          {
            "code" : "313947",
            "display" : "2q23.1 microduplication syndrome"
          },
          {
            "code" : "314",
            "display" : "Erythroderma desquamativum"
          },
          {
            "code" : "314002",
            "display" : "Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome"
          },
          {
            "code" : "314017",
            "display" : "Idiopathic linear interstitial keratitis"
          },
          {
            "code" : "314022",
            "display" : "Gastric adenocarcinoma and proximal polyposis of the stomach"
          },
          {
            "code" : "314029",
            "display" : "High bone mass osteogenesis imperfecta"
          },
          {
            "code" : "314034",
            "display" : "7p22.1 microduplication syndrome"
          },
          {
            "code" : "314041",
            "display" : "Marfanoid habitus-inguinal hernia-advanced bone age syndrome"
          },
          {
            "code" : "314051",
            "display" : "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome"
          },
          {
            "code" : "3143",
            "display" : "Autoimmune polyendocrinopathy type 2"
          },
          {
            "code" : "314373",
            "display" : "Chronic infantile diarrhea due to guanylate cyclase 2C overactivity"
          },
          {
            "code" : "314376",
            "display" : "Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency"
          },
          {
            "code" : "314381",
            "display" : "Hereditary sensory and autonomic neuropathy type 6"
          },
          {
            "code" : "314389",
            "display" : "Xq12-q13.3 duplication syndrome"
          },
          {
            "code" : "314394",
            "display" : "Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome"
          },
          {
            "code" : "314399",
            "display" : "Autosomal dominant aplasia and myelodysplasia"
          },
          {
            "code" : "3144",
            "display" : "Schneckenbecken dysplasia"
          },
          {
            "code" : "314404",
            "display" : "Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome"
          },
          {
            "code" : "314419",
            "display" : "Ameloblastoma"
          },
          {
            "code" : "314422",
            "display" : "Ameloblastic carcinoma"
          },
          {
            "code" : "314432",
            "display" : "Spigelian hernia-cryptorchidism syndrome"
          },
          {
            "code" : "314451",
            "display" : "Meigs syndrome"
          },
          {
            "code" : "314459",
            "display" : "Pseudo-Meigs syndrome"
          },
          {
            "code" : "314466",
            "display" : "Atypical Meigs syndrome"
          },
          {
            "code" : "314473",
            "display" : "Ovarian fibroma"
          },
          {
            "code" : "314478",
            "display" : "Ovarian fibrothecoma"
          },
          {
            "code" : "314485",
            "display" : "Young adult-onset distal hereditary motor neuropathy"
          },
          {
            "code" : "3145",
            "display" : "Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome"
          },
          {
            "code" : "314555",
            "display" : "Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome"
          },
          {
            "code" : "314566",
            "display" : "Primary progressive apraxia of speech"
          },
          {
            "code" : "314572",
            "display" : "Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome"
          },
          {
            "code" : "314575",
            "display" : "Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome"
          },
          {
            "code" : "314585",
            "display" : "15q overgrowth syndrome"
          },
          {
            "code" : "314588",
            "display" : "Distal triplication 15q"
          },
          {
            "code" : "314597",
            "display" : "Chudley-McCullough syndrome"
          },
          {
            "code" : "314603",
            "display" : "Autosomal recessive spastic ataxia with leukoencephalopathy"
          },
          {
            "code" : "314613",
            "display" : "Growing teratoma syndrome"
          },
          {
            "code" : "314621",
            "display" : "Duplication of the pituitary gland"
          },
          {
            "code" : "314629",
            "display" : "CLN11 disease"
          },
          {
            "code" : "314632",
            "display" : "ATP13A2-related juvenile neuronal ceroid lipofuscinosis"
          },
          {
            "code" : "314637",
            "display" : "Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency"
          },
          {
            "code" : "314647",
            "display" : "Non-progressive cerebellar ataxia with intellectual disability"
          },
          {
            "code" : "314652",
            "display" : "Variant ABeta2M amyloidosis"
          },
          {
            "code" : "314655",
            "display" : "Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion"
          },
          {
            "code" : "314662",
            "display" : "Segmental progressive overgrowth syndrome with fibroadipose hyperplasia"
          },
          {
            "code" : "314667",
            "display" : "TMEM165-CDG"
          },
          {
            "code" : "314679",
            "display" : "Cerebrofacioarticular syndrome"
          },
          {
            "code" : "314684",
            "display" : "Primary bone lymphoma"
          },
          {
            "code" : "314689",
            "display" : "Combined immunodeficiency due to STK4 deficiency"
          },
          {
            "code" : "314697",
            "display" : "Acquired porencephaly"
          },
          {
            "code" : "314701",
            "display" : "Primary systemic amyloidosis"
          },
          {
            "code" : "314709",
            "display" : "Primary localized amyloidosis"
          },
          {
            "code" : "314718",
            "display" : "Lethal arteriopathy syndrome due to fibulin-4 deficiency"
          },
          {
            "code" : "314721",
            "display" : "Atypical dentin dysplasia due to SMOC2 deficiency"
          },
          {
            "code" : "314769",
            "display" : "Somatomammotropinoma"
          },
          {
            "code" : "314777",
            "display" : "Familial isolated pituitary adenoma"
          },
          {
            "code" : "314786",
            "display" : "Silent pituitary adenoma"
          },
          {
            "code" : "314790",
            "display" : "Null pituitary adenoma"
          },
          {
            "code" : "314795",
            "display" : "SHOX-related short stature"
          },
          {
            "code" : "3148",
            "display" : "Malignant peripheral nerve sheath tumor"
          },
          {
            "code" : "314802",
            "display" : "Short stature due to partial GHR deficiency"
          },
          {
            "code" : "314811",
            "display" : "Short stature due to GHSR deficiency"
          },
          {
            "code" : "314889",
            "display" : "Autosomal dominant proximal renal tubular acidosis"
          },
          {
            "code" : "314911",
            "display" : "Severe Canavan disease"
          },
          {
            "code" : "314918",
            "display" : "Mild Canavan disease"
          },
          {
            "code" : "314950",
            "display" : "Primary hypereosinophilic syndrome"
          },
          {
            "code" : "314962",
            "display" : "Secondary hypereosinophilic syndrome"
          },
          {
            "code" : "314970",
            "display" : "Lymphocytic hypereosinophilic syndrome"
          },
          {
            "code" : "314978",
            "display" : "X-linked non progressive cerebellar ataxia"
          },
          {
            "code" : "314993",
            "display" : "Cataract-congenital heart disease-neural tube defect syndrome"
          },
          {
            "code" : "315",
            "display" : "Erythrokeratoderma ''en cocardes''"
          },
          {
            "code" : "3151",
            "display" : "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome"
          },
          {
            "code" : "3152",
            "display" : "Sclerosteosis"
          },
          {
            "code" : "315306",
            "display" : "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form"
          },
          {
            "code" : "315311",
            "display" : "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form"
          },
          {
            "code" : "3156",
            "display" : "Senior-Loken syndrome"
          },
          {
            "code" : "3157",
            "display" : "Septo-optic dysplasia spectrum"
          },
          {
            "code" : "316",
            "display" : "Progressive symmetric erythrokeratodermia"
          },
          {
            "code" : "3161",
            "display" : "Congenital pulmonary sequestration"
          },
          {
            "code" : "3162",
            "display" : "Sézary syndrome"
          },
          {
            "code" : "3163",
            "display" : "SHORT syndrome"
          },
          {
            "code" : "3164",
            "display" : "Omphalocele syndrome, Shprintzen-Goldberg type"
          },
          {
            "code" : "3165",
            "display" : "Eosinophilic fasciitis"
          },
          {
            "code" : "3166",
            "display" : "Sialuria"
          },
          {
            "code" : "3167",
            "display" : "Siegler-Brewer-Carey syndrome"
          },
          {
            "code" : "3168",
            "display" : "Sillence syndrome"
          },
          {
            "code" : "3169",
            "display" : "Sirenomelia"
          },
          {
            "code" : "317",
            "display" : "Erythrokeratodermia variabilis"
          },
          {
            "code" : "31709",
            "display" : "Infantile convulsions and choreoathetosis"
          },
          {
            "code" : "3172",
            "display" : "Eyebrow duplication-syndactyly syndrome"
          },
          {
            "code" : "3173",
            "display" : "Infantile spasms-broad thumbs syndrome"
          },
          {
            "code" : "317425",
            "display" : "Severe combined immunodeficiency due to DNA-PKcs deficiency"
          },
          {
            "code" : "317428",
            "display" : "Combined immunodeficiency due to ORAI1 deficiency"
          },
          {
            "code" : "317430",
            "display" : "Combined immunodeficiency due to STIM1 deficiency"
          },
          {
            "code" : "317473",
            "display" : "Pancytopenia due to IKZF1 mutations"
          },
          {
            "code" : "317476",
            "display" : "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia"
          },
          {
            "code" : "3175",
            "display" : "X-linked spasticity-intellectual disability-epilepsy syndrome"
          },
          {
            "code" : "3176",
            "display" : "Spina bifida-hypospadias syndrome"
          },
          {
            "code" : "3177",
            "display" : "Spinocerebellar degeneration-corneal dystrophy syndrome"
          },
          {
            "code" : "318",
            "display" : "Acute erythroid leukemia"
          },
          {
            "code" : "3180",
            "display" : "Spondylocamptodactyly syndrome"
          },
          {
            "code" : "3181",
            "display" : "Sprengel deformity"
          },
          {
            "code" : "31824",
            "display" : "Colchicine poisoning"
          },
          {
            "code" : "31825",
            "display" : "Methanol poisoning"
          },
          {
            "code" : "31826",
            "display" : "Ethylene glycol poisoning"
          },
          {
            "code" : "31827",
            "display" : "Paraquat poisoning"
          },
          {
            "code" : "31828",
            "display" : "Digitalis poisoning"
          },
          {
            "code" : "31837",
            "display" : "Pulmonary venoocclusive disease"
          },
          {
            "code" : "3184",
            "display" : "Steatocystoma multiplex-natal teeth syndrome"
          },
          {
            "code" : "3186",
            "display" : "Holoprosencephaly-radial heart renal anomalies syndrome"
          },
          {
            "code" : "3189",
            "display" : "Congenital pulmonary valvar stenosis"
          },
          {
            "code" : "319",
            "display" : "Skeletal Ewing sarcoma"
          },
          {
            "code" : "3190",
            "display" : "Subpulmonary stenosis"
          },
          {
            "code" : "3191",
            "display" : "Subaortic stenosis-short stature syndrome"
          },
          {
            "code" : "319160",
            "display" : "Congenital myopathy with internal nuclei and atypical cores"
          },
          {
            "code" : "319171",
            "display" : "Distal 17p13.1 microdeletion syndrome"
          },
          {
            "code" : "319182",
            "display" : "Wiedemann-Steiner syndrome"
          },
          {
            "code" : "319189",
            "display" : "Familial cortical myoclonus"
          },
          {
            "code" : "319192",
            "display" : "Diencephalic-mesencephalic junction dysplasia"
          },
          {
            "code" : "319195",
            "display" : "Chondroectodermal dysplasia with night blindness"
          },
          {
            "code" : "319199",
            "display" : "Autosomal recessive spastic paraplegia type 53"
          },
          {
            "code" : "3192",
            "display" : "Supravalvular pulmonary stenosis"
          },
          {
            "code" : "319205",
            "display" : "Bilateral massive adrenal hemorrhage"
          },
          {
            "code" : "319213",
            "display" : "Lujo hemorrhagic fever"
          },
          {
            "code" : "319218",
            "display" : "Ebola hemorrhagic fever"
          },
          {
            "code" : "319223",
            "display" : "Argentine hemorrhagic fever"
          },
          {
            "code" : "319229",
            "display" : "Bolivian hemorrhagic fever"
          },
          {
            "code" : "319234",
            "display" : "Venezuelan hemorrhagic fever"
          },
          {
            "code" : "319239",
            "display" : "Brazilian hemorrhagic fever"
          },
          {
            "code" : "319244",
            "display" : "Chapare hemorrhagic fever"
          },
          {
            "code" : "319247",
            "display" : "Hantavirus pulmonary syndrome"
          },
          {
            "code" : "319251",
            "display" : "Rift valley fever"
          },
          {
            "code" : "319254",
            "display" : "Kyasanur forest disease"
          },
          {
            "code" : "319266",
            "display" : "Omsk hemorrhagic fever"
          },
          {
            "code" : "319276",
            "display" : "Clear cell renal carcinoma"
          },
          {
            "code" : "319287",
            "display" : "Multilocular cystic renal neoplasm of low malignant potential"
          },
          {
            "code" : "319298",
            "display" : "Papillary renal cell carcinoma"
          },
          {
            "code" : "3193",
            "display" : "Supravalvular aortic stenosis"
          },
          {
            "code" : "319303",
            "display" : "Chromophobe renal cell carcinoma"
          },
          {
            "code" : "319308",
            "display" : "MiT family translocation renal cell carcinoma"
          },
          {
            "code" : "319319",
            "display" : "Renal medullary carcinoma"
          },
          {
            "code" : "319322",
            "display" : "Mucinous tubular and spindle cell renal carcinoma"
          },
          {
            "code" : "319325",
            "display" : "Tubulocystic renal cell carcinoma"
          },
          {
            "code" : "319332",
            "display" : "Autosomal recessive myogenic arthrogryposis multiplex congenita"
          },
          {
            "code" : "319340",
            "display" : "Carney complex-trismus-pseudocamptodactyly syndrome"
          },
          {
            "code" : "3194",
            "display" : "Corneodermatoosseous syndrome"
          },
          {
            "code" : "319462",
            "display" : "Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations"
          },
          {
            "code" : "319465",
            "display" : "Inherited acute myeloid leukemia"
          },
          {
            "code" : "319480",
            "display" : "Acute myeloid leukemia with CEBPA somatic mutations"
          },
          {
            "code" : "319487",
            "display" : "Familial papillary or follicular thyroid carcinoma"
          },
          {
            "code" : "319504",
            "display" : "Combined oxidative phosphorylation defect type 8"
          },
          {
            "code" : "319509",
            "display" : "Combined oxidative phosphorylation defect type 9"
          },
          {
            "code" : "319514",
            "display" : "Combined oxidative phosphorylation defect type 13"
          },
          {
            "code" : "319519",
            "display" : "Combined oxidative phosphorylation defect type 14"
          },
          {
            "code" : "319524",
            "display" : "Combined oxidative phosphorylation defect type 15"
          },
          {
            "code" : "319547",
            "display" : "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"
          },
          {
            "code" : "319552",
            "display" : "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency"
          },
          {
            "code" : "319558",
            "display" : "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency"
          },
          {
            "code" : "319563",
            "display" : "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency"
          },
          {
            "code" : "319569",
            "display" : "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"
          },
          {
            "code" : "319574",
            "display" : "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"
          },
          {
            "code" : "319581",
            "display" : "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency"
          },
          {
            "code" : "319589",
            "display" : "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency"
          },
          {
            "code" : "319595",
            "display" : "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency"
          },
          {
            "code" : "3196",
            "display" : "Steroid dehydrogenase deficiency-dental anomalies syndrome"
          },
          {
            "code" : "319600",
            "display" : "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency"
          },
          {
            "code" : "319605",
            "display" : "X-linked mendelian susceptibility to mycobacterial diseases"
          },
          {
            "code" : "319612",
            "display" : "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency"
          },
          {
            "code" : "319623",
            "display" : "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency"
          },
          {
            "code" : "319635",
            "display" : "Amyloidosis cutis dyschromia"
          },
          {
            "code" : "319640",
            "display" : "Retinal macular dystrophy type 2"
          },
          {
            "code" : "319646",
            "display" : "PGM1-CDG"
          },
          {
            "code" : "319651",
            "display" : "Constitutional megaloblastic anemia with severe neurologic disease"
          },
          {
            "code" : "319667",
            "display" : "Primary lymphoma of the conjunctiva"
          },
          {
            "code" : "319671",
            "display" : "Alazami syndrome"
          },
          {
            "code" : "319675",
            "display" : "Microcephalic primordial dwarfism, Dauber type"
          },
          {
            "code" : "319678",
            "display" : "Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"
          },
          {
            "code" : "3197",
            "display" : "Hereditary hyperekplexia"
          },
          {
            "code" : "3198",
            "display" : "Stiff person spectrum disorder"
          },
          {
            "code" : "3199",
            "display" : "Stimmler syndrome"
          },
          {
            "code" : "32",
            "display" : "Glutathione synthetase deficiency"
          },
          {
            "code" : "320",
            "display" : "Apparent mineralocorticoid excess"
          },
          {
            "code" : "3200",
            "display" : "Arthrogryposis-ectodermal dysplasia syndrome"
          },
          {
            "code" : "3201",
            "display" : "Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome"
          },
          {
            "code" : "3202",
            "display" : "Dehydrated hereditary stomatocytosis"
          },
          {
            "code" : "3203",
            "display" : "Overhydrated hereditary stomatocytosis"
          },
          {
            "code" : "320355",
            "display" : "Autosomal dominant spastic paraplegia type 41"
          },
          {
            "code" : "320360",
            "display" : "MT-ATP6-related mitochondrial spastic paraplegia"
          },
          {
            "code" : "320365",
            "display" : "Autosomal dominant spastic paraplegia type 36"
          },
          {
            "code" : "320370",
            "display" : "Autosomal recessive spastic paraplegia type 43"
          },
          {
            "code" : "320375",
            "display" : "Autosomal recessive spastic paraplegia type 55"
          },
          {
            "code" : "320380",
            "display" : "Autosomal recessive spastic paraplegia type 54"
          },
          {
            "code" : "320385",
            "display" : "Hereditary sensory and autonomic neuropathy due to TECPR2 mutation"
          },
          {
            "code" : "320391",
            "display" : "Autosomal recessive spastic paraplegia type 46"
          },
          {
            "code" : "320396",
            "display" : "Autosomal recessive spastic paraplegia type 45"
          },
          {
            "code" : "3204",
            "display" : "Stormorken-Sjaastad-Langslet syndrome"
          },
          {
            "code" : "320401",
            "display" : "Autosomal recessive spastic paraplegia type 44"
          },
          {
            "code" : "320406",
            "display" : "Spastic paraplegia-optic atrophy-neuropathy syndrome"
          },
          {
            "code" : "320411",
            "display" : "Autosomal recessive spastic paraplegia type 56"
          },
          {
            "code" : "3205",
            "display" : "Sturge-Weber syndrome"
          },
          {
            "code" : "3206",
            "display" : "Stüve-Wiedemann syndrome"
          },
          {
            "code" : "3207",
            "display" : "White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome"
          },
          {
            "code" : "3208",
            "display" : "Isolated succinate-CoQ reductase deficiency"
          },
          {
            "code" : "321",
            "display" : "Multiple osteochondromas"
          },
          {
            "code" : "3210",
            "display" : "Summitt syndrome"
          },
          {
            "code" : "3214",
            "display" : "Deaf blind hypopigmentation syndrome, Yemenite type"
          },
          {
            "code" : "3216",
            "display" : "Conductive deafness-malformed external ear syndrome"
          },
          {
            "code" : "3217",
            "display" : "Deafness-small bowel diverticulosis-neuropathy syndrome"
          },
          {
            "code" : "3218",
            "display" : "Deafness-epiphyseal dysplasia-short stature syndrome"
          },
          {
            "code" : "3219",
            "display" : "Fountain syndrome"
          },
          {
            "code" : "322",
            "display" : "Exstrophy-epispadias complex"
          },
          {
            "code" : "3220",
            "display" : "Deafness-enamel hypoplasia-nail defects syndrome"
          },
          {
            "code" : "3222",
            "display" : "Phosphoribosylpyrophosphate synthetase superactivity"
          },
          {
            "code" : "3224",
            "display" : "Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome"
          },
          {
            "code" : "3225",
            "display" : "Hearing loss-familial salivary gland insensitivity to aldosterone syndrome"
          },
          {
            "code" : "3226",
            "display" : "Deafness-lymphedema-leukemia syndrome"
          },
          {
            "code" : "3230",
            "display" : "Deafness-oligodontia syndrome"
          },
          {
            "code" : "3232",
            "display" : "Deafness-ear malformation-facial palsy syndrome"
          },
          {
            "code" : "3233",
            "display" : "Cochleosaccular degeneration-cataract syndrome"
          },
          {
            "code" : "3235",
            "display" : "Progressive deafness with stapes fixation"
          },
          {
            "code" : "3236",
            "display" : "Conductive deafness-ptosis-skeletal anomalies syndrome"
          },
          {
            "code" : "3237",
            "display" : "Multiple synostoses syndrome"
          },
          {
            "code" : "3238",
            "display" : "Cardiospondylocarpofacial syndrome"
          },
          {
            "code" : "3239",
            "display" : "Deafness-vitiligo-achalasia syndrome"
          },
          {
            "code" : "324",
            "display" : "Fabry disease"
          },
          {
            "code" : "3240",
            "display" : "Central nervous system calcification-deafness-tubular acidosis-anemia syndrome"
          },
          {
            "code" : "3241",
            "display" : "Deafness-craniofacial syndrome"
          },
          {
            "code" : "3242",
            "display" : "Renpenning syndrome"
          },
          {
            "code" : "324262",
            "display" : "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency"
          },
          {
            "code" : "324290",
            "display" : "Early-onset Lafora body disease"
          },
          {
            "code" : "324294",
            "display" : "T-cell immunodeficiency with epidermodysplasia verruciformis"
          },
          {
            "code" : "324299",
            "display" : "Multiple paragangliomas associated with polycythemia"
          },
          {
            "code" : "3243",
            "display" : "Sweet syndrome"
          },
          {
            "code" : "324307",
            "display" : "Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome"
          },
          {
            "code" : "324313",
            "display" : "9p13 microdeletion syndrome"
          },
          {
            "code" : "324321",
            "display" : "Sinoatrial node dysfunction and deafness"
          },
          {
            "code" : "324353",
            "display" : "Congenital achiasma"
          },
          {
            "code" : "324364",
            "display" : "Mixed sclerosing bone dystrophy with extra-skeletal manifestations"
          },
          {
            "code" : "324381",
            "display" : "Hereditary inclusion body myopathy type 4"
          },
          {
            "code" : "324410",
            "display" : "X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"
          },
          {
            "code" : "324416",
            "display" : "Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome"
          },
          {
            "code" : "324422",
            "display" : "ALG13-CDG"
          },
          {
            "code" : "324442",
            "display" : "Autosomal recessive axonal neuropathy with neuromyotonia"
          },
          {
            "code" : "324525",
            "display" : "Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation"
          },
          {
            "code" : "324530",
            "display" : "Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation"
          },
          {
            "code" : "324535",
            "display" : "Combined oxidative phosphorylation defect type 11"
          },
          {
            "code" : "324540",
            "display" : "Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome"
          },
          {
            "code" : "324561",
            "display" : "Hypopigmentation-punctate palmoplantar keratoderma syndrome"
          },
          {
            "code" : "324569",
            "display" : "Pontocerebellar hypoplasia type 8"
          },
          {
            "code" : "324575",
            "display" : "Hyperinsulinism due to HNF1A deficiency"
          },
          {
            "code" : "324581",
            "display" : "Benign Samaritan congenital myopathy"
          },
          {
            "code" : "324585",
            "display" : "Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain"
          },
          {
            "code" : "324588",
            "display" : "Familial dyskinesia and facial myokymia"
          },
          {
            "code" : "3246",
            "display" : "Symphalangism with multiple anomalies of hands and feet"
          },
          {
            "code" : "324601",
            "display" : "X-linked cleft palate and ankyloglossia"
          },
          {
            "code" : "324604",
            "display" : "Classic multiminicore myopathy"
          },
          {
            "code" : "324611",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation"
          },
          {
            "code" : "324625",
            "display" : "Chikungunya"
          },
          {
            "code" : "324632",
            "display" : "Hendra virus infection"
          },
          {
            "code" : "324636",
            "display" : "Autoerythrocyte sensitization syndrome"
          },
          {
            "code" : "324648",
            "display" : "Invasive non-typhoidal salmonellosis"
          },
          {
            "code" : "324703",
            "display" : "ABetaL34V amyloidosis"
          },
          {
            "code" : "324708",
            "display" : "ABeta amyloidosis, Iowa type"
          },
          {
            "code" : "324713",
            "display" : "ABeta amyloidosis, Italian type"
          },
          {
            "code" : "324718",
            "display" : "ABetaA21G amyloidosis"
          },
          {
            "code" : "324723",
            "display" : "ABeta amyloidosis, Arctic type"
          },
          {
            "code" : "324737",
            "display" : "SRD5A3-CDG"
          },
          {
            "code" : "3248",
            "display" : "Distal symphalangism"
          },
          {
            "code" : "324964",
            "display" : "Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis"
          },
          {
            "code" : "324972",
            "display" : "MAGIC syndrome"
          },
          {
            "code" : "324977",
            "display" : "Proteasome-associated autoinflammatory syndrome"
          },
          {
            "code" : "325",
            "display" : "Congenital factor II deficiency"
          },
          {
            "code" : "3250",
            "display" : "Proximal symphalangism"
          },
          {
            "code" : "325124",
            "display" : "Testicular agenesis"
          },
          {
            "code" : "3253",
            "display" : "Cleft lip/palate-ectodermal dysplasia syndrome"
          },
          {
            "code" : "325345",
            "display" : "46,XY ovotesticular difference of sex development"
          },
          {
            "code" : "325448",
            "display" : "Leydig cell hypoplasia due to LHB deficiency"
          },
          {
            "code" : "3255",
            "display" : "Filippi syndrome"
          },
          {
            "code" : "325524",
            "display" : "Classic congenital lipoid adrenal hyperplasia due to STAR deficency"
          },
          {
            "code" : "325529",
            "display" : "Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency"
          },
          {
            "code" : "3258",
            "display" : "Cenani-Lenz syndrome"
          },
          {
            "code" : "3259",
            "display" : "Syndactyly-polydactyly-ear lobe syndrome"
          },
          {
            "code" : "326",
            "display" : "Congenital factor V deficiency"
          },
          {
            "code" : "3260",
            "display" : "Idiopathic hypereosinophilic syndrome"
          },
          {
            "code" : "3261",
            "display" : "Autoimmune lymphoproliferative syndrome"
          },
          {
            "code" : "3262",
            "display" : "Dobrow syndrome"
          },
          {
            "code" : "3263",
            "display" : "Syngnathia-cleft palate syndrome"
          },
          {
            "code" : "3265",
            "display" : "Humero-radial synostosis"
          },
          {
            "code" : "3266",
            "display" : "Humero-radio-ulnar synostosis"
          },
          {
            "code" : "3268",
            "display" : "Radioulnar synostosis-microcephaly-scoliosis syndrome"
          },
          {
            "code" : "3269",
            "display" : "Congenital radioulnar synostosis"
          },
          {
            "code" : "327",
            "display" : "Congenital factor VII deficiency"
          },
          {
            "code" : "3270",
            "display" : "Radioulnar synostosis-developmental delay-hypotonia syndrome"
          },
          {
            "code" : "3273",
            "display" : "Synovial sarcoma"
          },
          {
            "code" : "3275",
            "display" : "Spondylocarpotarsal synostosis"
          },
          {
            "code" : "328",
            "display" : "Congenital factor X deficiency"
          },
          {
            "code" : "3282",
            "display" : "Multifocal atrial tachycardia"
          },
          {
            "code" : "3283",
            "display" : "His bundle tachycardia"
          },
          {
            "code" : "3286",
            "display" : "Catecholaminergic polymorphic ventricular tachycardia"
          },
          {
            "code" : "3287",
            "display" : "Takayasu arteritis"
          },
          {
            "code" : "329",
            "display" : "Congenital factor XI deficiency"
          },
          {
            "code" : "3291",
            "display" : "Teebi-Shaltout syndrome"
          },
          {
            "code" : "329173",
            "display" : "Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"
          },
          {
            "code" : "329178",
            "display" : "Congenital muscular dystrophy with intellectual disability and severe epilepsy"
          },
          {
            "code" : "329191",
            "display" : "Tall stature-long halluces-multiple extra-epiphyses syndrome"
          },
          {
            "code" : "329195",
            "display" : "Developmental delay with autism spectrum disorder and gait instability"
          },
          {
            "code" : "3292",
            "display" : "Tel Hashomer camptodactyly syndrome"
          },
          {
            "code" : "329211",
            "display" : "Autosomal dominant neovascular inflammatory vitreoretinopathy"
          },
          {
            "code" : "329217",
            "display" : "Cerebral sinovenous thrombosis"
          },
          {
            "code" : "329224",
            "display" : "Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome"
          },
          {
            "code" : "329228",
            "display" : "Microcephalic primordial dwarfism due to ZNF335 deficiency"
          },
          {
            "code" : "329235",
            "display" : "X-linked central congenital hypothyroidism with late-onset testicular enlargement"
          },
          {
            "code" : "329242",
            "display" : "Congenital chronic diarrhea with protein-losing enteropathy"
          },
          {
            "code" : "329249",
            "display" : "Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"
          },
          {
            "code" : "329258",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2Q"
          },
          {
            "code" : "329284",
            "display" : "Beta-propeller protein-associated neurodegeneration"
          },
          {
            "code" : "3293",
            "display" : "Telecanthus-hypertelorism-strabismus-pes cavus syndrome"
          },
          {
            "code" : "329308",
            "display" : "Fatty acid hydroxylase-associated neurodegeneration"
          },
          {
            "code" : "329314",
            "display" : "Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency"
          },
          {
            "code" : "329319",
            "display" : "Thrombocythemia with distal limb defects"
          },
          {
            "code" : "329324",
            "display" : "Inverse Klippel-Trénaunay syndrome"
          },
          {
            "code" : "329329",
            "display" : "Autosomal recessive frontotemporal pachygyria"
          },
          {
            "code" : "329332",
            "display" : "Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome"
          },
          {
            "code" : "329336",
            "display" : "Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy"
          },
          {
            "code" : "3294",
            "display" : "Extensor tendons of finger anomalies"
          },
          {
            "code" : "329457",
            "display" : "Distal arthrogryposis type 5D"
          },
          {
            "code" : "329466",
            "display" : "Autosomal dominant focal dystonia, DYT25 type"
          },
          {
            "code" : "329469",
            "display" : "Acute megakaryoblastic leukemia without Down syndrome"
          },
          {
            "code" : "329475",
            "display" : "Spastic paraplegia-Paget disease of bone syndrome"
          },
          {
            "code" : "329478",
            "display" : "Adult-onset distal myopathy due to VCP mutation"
          },
          {
            "code" : "329481",
            "display" : "Lipoprotein glomerulopathy"
          },
          {
            "code" : "32960",
            "display" : "Tumor necrosis factor receptor 1 associated periodic syndrome"
          },
          {
            "code" : "329802",
            "display" : "5p13 microduplication syndrome"
          },
          {
            "code" : "329813",
            "display" : "Mosaic genome-wide paternal uniparental disomy"
          },
          {
            "code" : "329874",
            "display" : "Idiopathic giant cell myocarditis"
          },
          {
            "code" : "329883",
            "display" : "Non-hypoproteinemic hypertrophic gastropathy"
          },
          {
            "code" : "329894",
            "display" : "Juvenile overlap myositis"
          },
          {
            "code" : "3299",
            "display" : "Tetanus"
          },
          {
            "code" : "329903",
            "display" : "Immunoglobulin-mediated membranoproliferative glomerulonephritis"
          },
          {
            "code" : "329918",
            "display" : "C3 glomerulopathy"
          },
          {
            "code" : "329931",
            "display" : "C3 glomerulonephritis"
          },
          {
            "code" : "329942",
            "display" : "Transient neonatal multiple acyl-CoA dehydrogenase deficiency"
          },
          {
            "code" : "329967",
            "display" : "Intermittent hydrarthrosis"
          },
          {
            "code" : "329971",
            "display" : "Generalized juvenile polyposis/juvenile polyposis coli"
          },
          {
            "code" : "329977",
            "display" : "Classic neuroendocrine tumor of appendix"
          },
          {
            "code" : "329984",
            "display" : "Goblet cell carcinoma"
          },
          {
            "code" : "33",
            "display" : "Isovaleric acidemia"
          },
          {
            "code" : "330",
            "display" : "Congenital factor XII deficiency"
          },
          {
            "code" : "330001",
            "display" : "Wild type ATTR amyloidosis"
          },
          {
            "code" : "33001",
            "display" : "Lymphedema-distichiasis syndrome"
          },
          {
            "code" : "330012",
            "display" : "High altitude pulmonary edema"
          },
          {
            "code" : "330015",
            "display" : "Lead poisoning"
          },
          {
            "code" : "330021",
            "display" : "Mercury poisoning"
          },
          {
            "code" : "330029",
            "display" : "Hypotrichosis-deafness syndrome"
          },
          {
            "code" : "330032",
            "display" : "Hemoglobin Lepore-beta-thalassemia syndrome"
          },
          {
            "code" : "330041",
            "display" : "Hemoglobin M disease"
          },
          {
            "code" : "330050",
            "display" : "DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect"
          },
          {
            "code" : "330054",
            "display" : "Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome"
          },
          {
            "code" : "330058",
            "display" : "Hydroa vacciniforme"
          },
          {
            "code" : "330061",
            "display" : "Actinic prurigo"
          },
          {
            "code" : "330064",
            "display" : "Chronic actinic dermatitis"
          },
          {
            "code" : "3301",
            "display" : "Tetraamelia-multiple malformations syndrome"
          },
          {
            "code" : "3303",
            "display" : "Tetralogy of Fallot"
          },
          {
            "code" : "3304",
            "display" : "Fallot complex-intellectual disability-growth delay syndrome"
          },
          {
            "code" : "3305",
            "display" : "Tetraploidy"
          },
          {
            "code" : "3306",
            "display" : "Inverted duplicated chromosome 15 syndrome"
          },
          {
            "code" : "33067",
            "display" : "Metaphyseal chondrodysplasia, Jansen type"
          },
          {
            "code" : "33069",
            "display" : "Dravet syndrome"
          },
          {
            "code" : "3307",
            "display" : "Tetrasomy 18p"
          },
          {
            "code" : "3309",
            "display" : "Tetrasomy 5p"
          },
          {
            "code" : "331",
            "display" : "Congenital factor XIII deficiency"
          },
          {
            "code" : "3310",
            "display" : "Tetrasomy 9p"
          },
          {
            "code" : "33108",
            "display" : "Lethal multiple pterygium syndrome"
          },
          {
            "code" : "33110",
            "display" : "Autosomal agammaglobulinemia"
          },
          {
            "code" : "33111",
            "display" : "Granulomatous slack skin"
          },
          {
            "code" : "331176",
            "display" : "Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"
          },
          {
            "code" : "331187",
            "display" : "Immunodeficiency due to MASP-2 deficiency"
          },
          {
            "code" : "331190",
            "display" : "Immunodeficiency due to ficolin3 deficiency"
          },
          {
            "code" : "3312",
            "display" : "Thalidomide embryopathy"
          },
          {
            "code" : "331206",
            "display" : "Severe combined immunodeficiency due to complete RAG1/2 deficiency"
          },
          {
            "code" : "331226",
            "display" : "Susceptibility to infection due to TYK2 deficiency"
          },
          {
            "code" : "331235",
            "display" : "Selective IgM deficiency"
          },
          {
            "code" : "3314",
            "display" : "Thiemann disease, familial form"
          },
          {
            "code" : "3316",
            "display" : "Thomas syndrome"
          },
          {
            "code" : "3317",
            "display" : "Thoracolaryngopelvic dysplasia"
          },
          {
            "code" : "3318",
            "display" : "Essential thrombocythemia"
          },
          {
            "code" : "3319",
            "display" : "Congenital amegakaryocytic thrombocytopenia"
          },
          {
            "code" : "332",
            "display" : "Congenital intrinsic factor deficiency"
          },
          {
            "code" : "3320",
            "display" : "Thrombocytopenia-absent radius syndrome"
          },
          {
            "code" : "33208",
            "display" : "Idiopathic hypersomnia"
          },
          {
            "code" : "3322",
            "display" : "Hoyeraal-Hreidarsson syndrome"
          },
          {
            "code" : "33226",
            "display" : "Waldenström macroglobulinemia"
          },
          {
            "code" : "3324",
            "display" : "Familial thrombomodulin anomalies"
          },
          {
            "code" : "3325",
            "display" : "Heparin-induced thrombocytopenia"
          },
          {
            "code" : "3326",
            "display" : "Thymic-renal-anal-lung dysplasia"
          },
          {
            "code" : "3327",
            "display" : "Thyrocerebrorenal syndrome"
          },
          {
            "code" : "33276",
            "display" : "Kaposi sarcoma"
          },
          {
            "code" : "3328",
            "display" : "Absent tibia-polydactyly-arachnoid cyst syndrome"
          },
          {
            "code" : "3329",
            "display" : "Tibial aplasia-ectrodactyly syndrome"
          },
          {
            "code" : "333",
            "display" : "Farber disease"
          },
          {
            "code" : "33314",
            "display" : "Jessner lymphocytic infiltration of the skin"
          },
          {
            "code" : "33355",
            "display" : "Reticular dysgenesis"
          },
          {
            "code" : "33364",
            "display" : "Trichothiodystrophy"
          },
          {
            "code" : "3337",
            "display" : "Primary Fanconi renotubular syndrome"
          },
          {
            "code" : "3338",
            "display" : "Toriello-Carey syndrome"
          },
          {
            "code" : "3339",
            "display" : "Toriello-Lacassie-Droste syndrome"
          },
          {
            "code" : "334",
            "display" : "Familial atrial fibrillation"
          },
          {
            "code" : "33402",
            "display" : "Pediatric hepatocellular carcinoma"
          },
          {
            "code" : "33408",
            "display" : "Bullous lichen planus"
          },
          {
            "code" : "3341",
            "display" : "Torticollis-keloids-cryptorchidism-renal dysplasia syndrome"
          },
          {
            "code" : "3342",
            "display" : "Arterial tortuosity syndrome"
          },
          {
            "code" : "3343",
            "display" : "Toxocariasis"
          },
          {
            "code" : "3344",
            "display" : "Weismann-Netter syndrome"
          },
          {
            "code" : "33445",
            "display" : "Neuroectodermal melanolysosomal disease"
          },
          {
            "code" : "3346",
            "display" : "Tracheal agenesis"
          },
          {
            "code" : "3347",
            "display" : "Mounier-Kühn syndrome"
          },
          {
            "code" : "33475",
            "display" : "Meningococcal meningitis"
          },
          {
            "code" : "3348",
            "display" : "Tracheobronchopathia osteochondroplastica"
          },
          {
            "code" : "335",
            "display" : "Congenital fibrinogen deficiency"
          },
          {
            "code" : "3350",
            "display" : "Tremor-nystagmus-duodenal ulcer syndrome"
          },
          {
            "code" : "3351",
            "display" : "Trichodental syndrome"
          },
          {
            "code" : "3352",
            "display" : "Tricho-dento-osseous syndrome"
          },
          {
            "code" : "3353",
            "display" : "Trichodermodysplasia-dental alterations syndrome"
          },
          {
            "code" : "33543",
            "display" : "Kleine-Levin syndrome"
          },
          {
            "code" : "3355",
            "display" : "Trichoodontoonychial dysplasia"
          },
          {
            "code" : "33572",
            "display" : "5-oxoprolinase deficiency"
          },
          {
            "code" : "33573",
            "display" : "Gamma-glutamyl transpeptidase deficiency"
          },
          {
            "code" : "33574",
            "display" : "Glutamate-cysteine ligase deficiency"
          },
          {
            "code" : "33577",
            "display" : "Nodular non-suppurative panniculitis"
          },
          {
            "code" : "3361",
            "display" : "Trichodysplasia-xeroderma syndrome"
          },
          {
            "code" : "3363",
            "display" : "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome"
          },
          {
            "code" : "3365",
            "display" : "Trigonocephaly-broad thumbs syndrome"
          },
          {
            "code" : "3366",
            "display" : "Non-syndromic metopic craniosynostosis"
          },
          {
            "code" : "3368",
            "display" : "Trigonocephaly-bifid nose-acral anomalies syndrome"
          },
          {
            "code" : "3369",
            "display" : "Trigonocephaly-short stature-developmental delay syndrome"
          },
          {
            "code" : "337",
            "display" : "Fibrodysplasia ossificans progressiva"
          },
          {
            "code" : "3374",
            "display" : "Unilateral ocular duplication"
          },
          {
            "code" : "3375",
            "display" : "Trisomy X"
          },
          {
            "code" : "3376",
            "display" : "Triploidy"
          },
          {
            "code" : "3377",
            "display" : "Trismus-pseudocamptodactyly syndrome"
          },
          {
            "code" : "3378",
            "display" : "Trisomy 13"
          },
          {
            "code" : "3379",
            "display" : "Distal duplication 17q"
          },
          {
            "code" : "3380",
            "display" : "Trisomy 18"
          },
          {
            "code" : "3383",
            "display" : "Humerus trochlea aplasia"
          },
          {
            "code" : "3384",
            "display" : "Truncus arteriosus"
          },
          {
            "code" : "3385",
            "display" : "African trypanosomiasis"
          },
          {
            "code" : "3386",
            "display" : "American trypanosomiasis"
          },
          {
            "code" : "3387",
            "display" : "Isolated anterior cervical hypertrichosis"
          },
          {
            "code" : "3392",
            "display" : "Tularemia"
          },
          {
            "code" : "340",
            "display" : "Hemorrhagic fever-renal syndrome"
          },
          {
            "code" : "3400",
            "display" : "Aorto-ventricular tunnel"
          },
          {
            "code" : "3402",
            "display" : "Transient tyrosinemia of the newborn"
          },
          {
            "code" : "3403",
            "display" : "Uhl anomaly"
          },
          {
            "code" : "3404",
            "display" : "Ulbright-Hodes syndrome"
          },
          {
            "code" : "3405",
            "display" : "Umbilical cord ulceration-intestinal atresia syndrome"
          },
          {
            "code" : "3406",
            "display" : "Ulerythema ophryogenesis"
          },
          {
            "code" : "3408",
            "display" : "Upington disease"
          },
          {
            "code" : "3409",
            "display" : "Urban-Rogers-Meyer syndrome"
          },
          {
            "code" : "3411",
            "display" : "Double uterus-hemivagina-renal agenesis syndrome"
          },
          {
            "code" : "3412",
            "display" : "VACTERL with hydrocephalus"
          },
          {
            "code" : "34149",
            "display" : "Autosomal dominant tubulointerstitial kidney disease"
          },
          {
            "code" : "3416",
            "display" : "Hyperostosis corticalis generalisata"
          },
          {
            "code" : "3417",
            "display" : "Van den Bosch syndrome"
          },
          {
            "code" : "342",
            "display" : "Familial Mediterranean fever"
          },
          {
            "code" : "34217",
            "display" : "Naxos disease"
          },
          {
            "code" : "3424",
            "display" : "Velo-facial-skeletal syndrome"
          },
          {
            "code" : "3426",
            "display" : "Double outlet right ventricle"
          },
          {
            "code" : "3427",
            "display" : "Double outlet left ventricle"
          },
          {
            "code" : "3429",
            "display" : "Verloove Vanhorick-Brubakk syndrome"
          },
          {
            "code" : "343",
            "display" : "Hyperimmunoglobulinemia D with periodic fever"
          },
          {
            "code" : "3433",
            "display" : "Microcephaly-brachydactyly-kyphoscoliosis syndrome"
          },
          {
            "code" : "3434",
            "display" : "MMEP syndrome"
          },
          {
            "code" : "3437",
            "display" : "Vogt-Koyanagi-Harada disease"
          },
          {
            "code" : "3439",
            "display" : "Von Voss-Cherstvoy syndrome"
          },
          {
            "code" : "3440",
            "display" : "Waardenburg syndrome"
          },
          {
            "code" : "3447",
            "display" : "Weaver syndrome"
          },
          {
            "code" : "3448",
            "display" : "Weaver-Williams syndrome"
          },
          {
            "code" : "3449",
            "display" : "Weill-Marchesani syndrome"
          },
          {
            "code" : "345",
            "display" : "Dissecting cellulitis of the scalp"
          },
          {
            "code" : "3451",
            "display" : "Infantile spasms syndrome"
          },
          {
            "code" : "34514",
            "display" : "Telethonin-related limb-girdle muscular dystrophy R7"
          },
          {
            "code" : "34515",
            "display" : "FKRP-related limb-girdle muscular dystrophy R9"
          },
          {
            "code" : "34516",
            "display" : "DNAJB6-related limb-girdle muscular dystrophy D1"
          },
          {
            "code" : "3452",
            "display" : "Whipple disease"
          },
          {
            "code" : "34520",
            "display" : "Congenital muscular dystrophy with integrin alpha-7 deficiency"
          },
          {
            "code" : "34528",
            "display" : "Autosomal dominant primary hypomagnesemia with hypocalciuria"
          },
          {
            "code" : "3453",
            "display" : "Autoimmune polyendocrinopathy type 1"
          },
          {
            "code" : "3454",
            "display" : "Intellectual disability-developmental delay-contractures syndrome"
          },
          {
            "code" : "3455",
            "display" : "Wiedemann-Rautenstrauch syndrome"
          },
          {
            "code" : "3456",
            "display" : "Wildervanck syndrome"
          },
          {
            "code" : "34587",
            "display" : "Glycogen storage disease due to LAMP-2 deficiency"
          },
          {
            "code" : "3459",
            "display" : "Wilson-Turner syndrome"
          },
          {
            "code" : "34592",
            "display" : "Immunodeficiency by defective expression of MHC class I"
          },
          {
            "code" : "346",
            "display" : "Quinquaud folliculitis decalvans"
          },
          {
            "code" : "3463",
            "display" : "Wolfram syndrome"
          },
          {
            "code" : "3464",
            "display" : "Woodhouse-Sakati syndrome"
          },
          {
            "code" : "3465",
            "display" : "Worster-Drought syndrome"
          },
          {
            "code" : "3466",
            "display" : "WT limb-blood syndrome"
          },
          {
            "code" : "3467",
            "display" : "Hereditary xanthinuria"
          },
          {
            "code" : "3469",
            "display" : "XK aprosencephaly syndrome"
          },
          {
            "code" : "347",
            "display" : "Frasier syndrome"
          },
          {
            "code" : "3471",
            "display" : "Young syndrome"
          },
          {
            "code" : "3472",
            "display" : "Yunis-Varon syndrome"
          },
          {
            "code" : "3473",
            "display" : "Zimmermann-Laband syndrome"
          },
          {
            "code" : "3474",
            "display" : "CHIME syndrome"
          },
          {
            "code" : "348",
            "display" : "Fructose-1,6-bisphosphatase deficiency"
          },
          {
            "code" : "349",
            "display" : "Fucosidosis"
          },
          {
            "code" : "35",
            "display" : "Propionic acidemia"
          },
          {
            "code" : "35062",
            "display" : "Severe disseminated cytomegalovirus infection in immunocompetent patients"
          },
          {
            "code" : "35063",
            "display" : "Fulminant viral hepatitis"
          },
          {
            "code" : "35069",
            "display" : "Infantile neuroaxonal dystrophy"
          },
          {
            "code" : "35078",
            "display" : "T-B+ severe combined immunodeficiency due to JAK3 deficiency"
          },
          {
            "code" : "35093",
            "display" : "Non-syndromic sagittal craniosynostosis"
          },
          {
            "code" : "35099",
            "display" : "Non-syndromic bicoronal craniosynostosis"
          },
          {
            "code" : "351",
            "display" : "Galactosialidosis"
          },
          {
            "code" : "35107",
            "display" : "Desmosterolosis"
          },
          {
            "code" : "35120",
            "display" : "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency"
          },
          {
            "code" : "35121",
            "display" : "Lysosomal acid phosphatase deficiency"
          },
          {
            "code" : "35122",
            "display" : "Congenital sucrase-isomaltase deficiency"
          },
          {
            "code" : "35125",
            "display" : "Epidermal nevus syndrome"
          },
          {
            "code" : "35173",
            "display" : "X-linked dominant chondrodysplasia punctata"
          },
          {
            "code" : "352328",
            "display" : "MEGDEL syndrome"
          },
          {
            "code" : "352333",
            "display" : "Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome"
          },
          {
            "code" : "352403",
            "display" : "Spectrin-associated autosomal recessive cerebellar ataxia"
          },
          {
            "code" : "352447",
            "display" : "Progressive external ophthalmoplegia-myopathy-emaciation syndrome"
          },
          {
            "code" : "352470",
            "display" : "DNA2-related mitochondrial DNA deletion syndrome"
          },
          {
            "code" : "352479",
            "display" : "ISPD-related limb-girdle muscular dystrophy R20"
          },
          {
            "code" : "352490",
            "display" : "Autism spectrum disorder due to AUTS2 deficiency"
          },
          {
            "code" : "352530",
            "display" : "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome"
          },
          {
            "code" : "352540",
            "display" : "Oncogenic osteomalacia"
          },
          {
            "code" : "352563",
            "display" : "Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency"
          },
          {
            "code" : "352577",
            "display" : "Bainbridge-Ropers syndrome"
          },
          {
            "code" : "352582",
            "display" : "Familial infantile myoclonic epilepsy"
          },
          {
            "code" : "352587",
            "display" : "Focal epilepsy-intellectual disability-cerebro-cerebellar malformation"
          },
          {
            "code" : "352596",
            "display" : "Progressive myoclonic epilepsy with dystonia"
          },
          {
            "code" : "352629",
            "display" : "16q24.1 microdeletion syndrome"
          },
          {
            "code" : "352636",
            "display" : "Phalangeal microgeodic syndrome"
          },
          {
            "code" : "352641",
            "display" : "Autosomal recessive cerebellar ataxia with late-onset spasticity"
          },
          {
            "code" : "352649",
            "display" : "Brain dopamine-serotonin vesicular transport disease"
          },
          {
            "code" : "352654",
            "display" : "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome"
          },
          {
            "code" : "352657",
            "display" : "Hereditary benign intraepithelial dyskeratosis"
          },
          {
            "code" : "352662",
            "display" : "Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"
          },
          {
            "code" : "352665",
            "display" : "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion"
          },
          {
            "code" : "352670",
            "display" : "Autosomal dominant intermediate Charcot-Marie-Tooth disease type F"
          },
          {
            "code" : "352675",
            "display" : "X-linked Charcot-Marie-Tooth disease type 6"
          },
          {
            "code" : "352682",
            "display" : "Cobblestone lissencephaly without muscular or ocular involvement"
          },
          {
            "code" : "352709",
            "display" : "CLN13 disease"
          },
          {
            "code" : "352712",
            "display" : "Facial dysmorphism-immunodeficiency-livedo-short stature syndrome"
          },
          {
            "code" : "352718",
            "display" : "Progressive retinal dystrophy due to retinol transport defect"
          },
          {
            "code" : "352723",
            "display" : "Attenuated Chédiak-Higashi syndrome"
          },
          {
            "code" : "352731",
            "display" : "Oculocutaneous albinism type 1"
          },
          {
            "code" : "352734",
            "display" : "Minimal pigment oculocutaneous albinism type 1"
          },
          {
            "code" : "352737",
            "display" : "Temperature-sensitive oculocutaneous albinism type 1"
          },
          {
            "code" : "352745",
            "display" : "Oculocutaneous albinism type 7"
          },
          {
            "code" : "352763",
            "display" : "Scleredema"
          },
          {
            "code" : "353",
            "display" : "Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5"
          },
          {
            "code" : "353217",
            "display" : "Epileptic encephalopathy with global cerebral demyelination"
          },
          {
            "code" : "353220",
            "display" : "Familial primary localized cutaneous amyloidosis"
          },
          {
            "code" : "353253",
            "display" : "Burning mouth syndrome"
          },
          {
            "code" : "353277",
            "display" : "Rubinstein-Taybi syndrome due to CREBBP mutations"
          },
          {
            "code" : "353281",
            "display" : "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion"
          },
          {
            "code" : "353284",
            "display" : "Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"
          },
          {
            "code" : "353298",
            "display" : "Roifman syndrome"
          },
          {
            "code" : "353308",
            "display" : "Pyruvate carboxylase deficiency, infantile type"
          },
          {
            "code" : "353314",
            "display" : "Pyruvate carboxylase deficiency, severe neonatal type"
          },
          {
            "code" : "353320",
            "display" : "Pyruvate carboxylase deficiency, benign type"
          },
          {
            "code" : "353327",
            "display" : "Congenital myasthenic syndromes with glycosylation defect"
          },
          {
            "code" : "353334",
            "display" : "Congenital retinal arteriovenous communication"
          },
          {
            "code" : "353344",
            "display" : "Idiopathic macular telangiectasia type 1"
          },
          {
            "code" : "353351",
            "display" : "Idiopathic macular telangiectasia type 3"
          },
          {
            "code" : "353356",
            "display" : "Vasoproliferative tumor of the retina"
          },
          {
            "code" : "354",
            "display" : "GM1 gangliosidosis"
          },
          {
            "code" : "355",
            "display" : "Gaucher disease"
          },
          {
            "code" : "356",
            "display" : "Gerstmann-Straussler-Scheinker syndrome"
          },
          {
            "code" : "35612",
            "display" : "Nanophthalmos"
          },
          {
            "code" : "35664",
            "display" : "ALDH18A1-related De Barsy syndrome"
          },
          {
            "code" : "35686",
            "display" : "Serpiginous choroiditis"
          },
          {
            "code" : "35687",
            "display" : "Erdheim-Chester disease"
          },
          {
            "code" : "35689",
            "display" : "Primary lateral sclerosis"
          },
          {
            "code" : "356947",
            "display" : "3q26q27 microdeletion syndrome"
          },
          {
            "code" : "356961",
            "display" : "SLC35A2-CDG"
          },
          {
            "code" : "356978",
            "display" : "D,L-2-hydroxyglutaric aciduria"
          },
          {
            "code" : "356996",
            "display" : "ANK3-related intellectual disability-sleep disturbance syndrome"
          },
          {
            "code" : "357001",
            "display" : "19p13.13 microdeletion syndrome"
          },
          {
            "code" : "357008",
            "display" : "Hemolytic uremic syndrome with DGKE deficiency"
          },
          {
            "code" : "35701",
            "display" : "3-hydroxy-3-methylglutaryl-CoA synthase deficiency"
          },
          {
            "code" : "357027",
            "display" : "Hereditary retinoblastoma"
          },
          {
            "code" : "357034",
            "display" : "Non-hereditary retinoblastoma"
          },
          {
            "code" : "35704",
            "display" : "L-Arginine:glycine amidinotransferase deficiency"
          },
          {
            "code" : "357043",
            "display" : "Amyotrophic lateral sclerosis type 4"
          },
          {
            "code" : "357058",
            "display" : "Autosomal recessive cutis laxa type 2A"
          },
          {
            "code" : "35706",
            "display" : "Glutaric acidemia type 3"
          },
          {
            "code" : "357064",
            "display" : "Autosomal recessive cutis laxa type 2B"
          },
          {
            "code" : "357074",
            "display" : "Autosomal recessive cutis laxa type 2, classic type"
          },
          {
            "code" : "35708",
            "display" : "Aromatic L-amino acid decarboxylase deficiency"
          },
          {
            "code" : "35710",
            "display" : "Glucose-galactose malabsorption"
          },
          {
            "code" : "357107",
            "display" : "Arterial thoracic outlet syndrome"
          },
          {
            "code" : "357131",
            "display" : "Venous thoracic outlet syndrome"
          },
          {
            "code" : "357154",
            "display" : "Oral submucous fibrosis"
          },
          {
            "code" : "357158",
            "display" : "Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome"
          },
          {
            "code" : "357175",
            "display" : "Short ulna-dysmorphism-hypotonia-intellectual disability syndrome"
          },
          {
            "code" : "357220",
            "display" : "Primary essential cutis verticis gyrata"
          },
          {
            "code" : "357225",
            "display" : "Primary non-essential cutis verticis gyrata"
          },
          {
            "code" : "357237",
            "display" : "Severe combined immunodeficiency due to CARD11 deficiency"
          },
          {
            "code" : "357329",
            "display" : "Combined immunodeficiency due to IL21R deficiency"
          },
          {
            "code" : "357332",
            "display" : "Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome"
          },
          {
            "code" : "35737",
            "display" : "Morning glory disc anomaly"
          },
          {
            "code" : "358",
            "display" : "Gitelman syndrome"
          },
          {
            "code" : "35858",
            "display" : "Imerslund-Gräsbeck syndrome"
          },
          {
            "code" : "35878",
            "display" : "Hyperinsulinism-hyperammonemia syndrome"
          },
          {
            "code" : "35889",
            "display" : "Acute opioid intoxication"
          },
          {
            "code" : "35909",
            "display" : "Combined deficiency of factor V and factor VIII"
          },
          {
            "code" : "36",
            "display" : "Acrocallosal syndrome"
          },
          {
            "code" : "360",
            "display" : "Glioblastoma"
          },
          {
            "code" : "361",
            "display" : "Familial glucocorticoid deficiency"
          },
          {
            "code" : "36234",
            "display" : "Bacterial toxic-shock syndrome"
          },
          {
            "code" : "36235",
            "display" : "Staphylococcal scarlet fever"
          },
          {
            "code" : "36236",
            "display" : "Staphylococcal scalded skin syndrome"
          },
          {
            "code" : "36237",
            "display" : "Bullous impetigo"
          },
          {
            "code" : "36238",
            "display" : "Staphylococcal necrotizing pneumonia"
          },
          {
            "code" : "36258",
            "display" : "Buerger disease"
          },
          {
            "code" : "36273",
            "display" : "Gastric linitis plastica"
          },
          {
            "code" : "363396",
            "display" : "High myopia-sensorineural deafness syndrome"
          },
          {
            "code" : "363400",
            "display" : "Severe neurodegenerative syndrome with lipodystrophy"
          },
          {
            "code" : "363409",
            "display" : "Fetal akinesia-cerebral and retinal hemorrhage syndrome"
          },
          {
            "code" : "363412",
            "display" : "Hypomyelination with brain stem and spinal cord involvement and leg spasticity"
          },
          {
            "code" : "363417",
            "display" : "Temtamy preaxial brachydactyly syndrome"
          },
          {
            "code" : "363424",
            "display" : "Multiple mitochondrial dysfunctions syndrome type 3"
          },
          {
            "code" : "363429",
            "display" : "Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome"
          },
          {
            "code" : "363432",
            "display" : "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency"
          },
          {
            "code" : "363444",
            "display" : "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome"
          },
          {
            "code" : "363447",
            "display" : "Autosomal dominant childhood-onset proximal spinal muscular atrophy"
          },
          {
            "code" : "363454",
            "display" : "BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy"
          },
          {
            "code" : "363478",
            "display" : "Paratesticular adenocarcinoma"
          },
          {
            "code" : "363483",
            "display" : "Testicular teratoma"
          },
          {
            "code" : "363489",
            "display" : "Sex cord-stromal tumor of testis"
          },
          {
            "code" : "363494",
            "display" : "Non-seminomatous germ cell tumor of testis"
          },
          {
            "code" : "363523",
            "display" : "Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome"
          },
          {
            "code" : "363528",
            "display" : "Intellectual disability-strabismus syndrome"
          },
          {
            "code" : "363534",
            "display" : "Mitochondrial DNA depletion syndrome, hepatocerebrorenal form"
          },
          {
            "code" : "363540",
            "display" : "Leukoencephalopathy with mild cerebellar ataxia and white matter edema"
          },
          {
            "code" : "363549",
            "display" : "Acute encephalopathy with biphasic seizures and late reduced diffusion"
          },
          {
            "code" : "36355",
            "display" : "Bleeding disorder due to P2Y12 defect"
          },
          {
            "code" : "363558",
            "display" : "New-onset refractory status epilepticus"
          },
          {
            "code" : "363611",
            "display" : "CTCF-related neurodevelopmental disorder"
          },
          {
            "code" : "363618",
            "display" : "LMNA-related cardiocutaneous progeria syndrome"
          },
          {
            "code" : "363623",
            "display" : "GMPPB-related limb-girdle muscular dystrophy R19"
          },
          {
            "code" : "363649",
            "display" : "Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome"
          },
          {
            "code" : "363654",
            "display" : "X-linked parkinsonism-spasticity syndrome"
          },
          {
            "code" : "363659",
            "display" : "20q11.2 microduplication syndrome"
          },
          {
            "code" : "363665",
            "display" : "Acroosteolysis-keloid-like lesions-premature aging syndrome"
          },
          {
            "code" : "36367",
            "display" : "Distal deletion 1q"
          },
          {
            "code" : "363677",
            "display" : "Childhood-onset autosomal recessive myopathy with external ophthalmoplegia"
          },
          {
            "code" : "363680",
            "display" : "2p13.2 microdeletion syndrome"
          },
          {
            "code" : "363686",
            "display" : "Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"
          },
          {
            "code" : "363694",
            "display" : "Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome"
          },
          {
            "code" : "363700",
            "display" : "Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion"
          },
          {
            "code" : "363705",
            "display" : "Craniofaciofrontodigital syndrome"
          },
          {
            "code" : "363710",
            "display" : "Spinocerebellar ataxia type 37"
          },
          {
            "code" : "363717",
            "display" : "Alexander disease type I"
          },
          {
            "code" : "363722",
            "display" : "Alexander disease type II"
          },
          {
            "code" : "363727",
            "display" : "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia"
          },
          {
            "code" : "363741",
            "display" : "Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome"
          },
          {
            "code" : "363746",
            "display" : "Balint syndrome"
          },
          {
            "code" : "36382",
            "display" : "Familial cervical artery dissection"
          },
          {
            "code" : "36383",
            "display" : "COL4A1-related familial vascular leukoencephalopathy"
          },
          {
            "code" : "36386",
            "display" : "Hereditary sensory and autonomic neuropathy type 1"
          },
          {
            "code" : "36387",
            "display" : "Generalized epilepsy with febrile seizures-plus"
          },
          {
            "code" : "363958",
            "display" : "17q21.31 microdeletion syndrome"
          },
          {
            "code" : "363965",
            "display" : "Koolen-De Vries syndrome due to a point mutation"
          },
          {
            "code" : "363969",
            "display" : "Autosomal recessive cerebral atrophy"
          },
          {
            "code" : "36397",
            "display" : "Adiposis dolorosa"
          },
          {
            "code" : "363972",
            "display" : "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia"
          },
          {
            "code" : "363976",
            "display" : "Giant cell tumor of bone"
          },
          {
            "code" : "363981",
            "display" : "Charcot-Marie-Tooth disease type 4B3"
          },
          {
            "code" : "363989",
            "display" : "Familial benign flecked retina"
          },
          {
            "code" : "363992",
            "display" : "Ichthyosis-short stature-brachydactyly-microspherophakia syndrome"
          },
          {
            "code" : "363999",
            "display" : "Non-immune hydrops fetalis"
          },
          {
            "code" : "364",
            "display" : "Glycogen storage disease due to glucose-6-phosphatase deficiency"
          },
          {
            "code" : "364013",
            "display" : "Immune hydrops fetalis"
          },
          {
            "code" : "364028",
            "display" : "X-linked intellectual disability due to GRIA3 mutations"
          },
          {
            "code" : "364033",
            "display" : "Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood"
          },
          {
            "code" : "364039",
            "display" : "Hydroa vacciniforme-like lymphoma"
          },
          {
            "code" : "364043",
            "display" : "ALK-positive large B-cell lymphoma"
          },
          {
            "code" : "364055",
            "display" : "Severe early-childhood-onset retinal dystrophy"
          },
          {
            "code" : "364063",
            "display" : "Infantile epileptic-dyskinetic encephalopathy"
          },
          {
            "code" : "36412",
            "display" : "Hypocomplementemic urticarial vasculitis"
          },
          {
            "code" : "364198",
            "display" : "Bipartite talus"
          },
          {
            "code" : "36426",
            "display" : "Stevens-Johnson syndrome"
          },
          {
            "code" : "364577",
            "display" : "Intellectual disability-brachydactyly-Pierre Robin syndrome"
          },
          {
            "code" : "365",
            "display" : "Glycogen storage disease due to acid maltase deficiency"
          },
          {
            "code" : "366",
            "display" : "Glycogen storage disease due to glycogen debranching enzyme deficiency"
          },
          {
            "code" : "367",
            "display" : "Glycogen storage disease due to glycogen branching enzyme deficiency"
          },
          {
            "code" : "368",
            "display" : "Glycogen storage disease due to muscle glycogen phosphorylase deficiency"
          },
          {
            "code" : "36899",
            "display" : "Myoclonus-dystonia syndrome"
          },
          {
            "code" : "369",
            "display" : "Glycogen storage disease due to liver glycogen phosphorylase deficiency"
          },
          {
            "code" : "36913",
            "display" : "Autoimmune hypoparathyroidism"
          },
          {
            "code" : "369837",
            "display" : "Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome"
          },
          {
            "code" : "369840",
            "display" : "TRAPPC11-related limb-girdle muscular dystrophy R18"
          },
          {
            "code" : "369847",
            "display" : "Intellectual disability-hyperkinetic movement-truncal ataxia syndrome"
          },
          {
            "code" : "369852",
            "display" : "Congenital neutropenia-myelofibrosis-nephromegaly syndrome"
          },
          {
            "code" : "369861",
            "display" : "Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome"
          },
          {
            "code" : "369867",
            "display" : "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C"
          },
          {
            "code" : "369873",
            "display" : "Obesity due to SIM1 deficiency"
          },
          {
            "code" : "369881",
            "display" : "2p21 microdeletion syndrome without cystinuria"
          },
          {
            "code" : "369891",
            "display" : "Developmental delay-facial dysmorphism syndrome due to MED13L deficiency"
          },
          {
            "code" : "369897",
            "display" : "Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies"
          },
          {
            "code" : "369913",
            "display" : "Combined oxidative phosphorylation defect type 17"
          },
          {
            "code" : "369920",
            "display" : "Pontocerebellar hypoplasia type 9"
          },
          {
            "code" : "369929",
            "display" : "Primary hyperaldosteronism-seizures-neurological abnormalities syndrome"
          },
          {
            "code" : "369939",
            "display" : "Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome"
          },
          {
            "code" : "369942",
            "display" : "CADDS"
          },
          {
            "code" : "369950",
            "display" : "Intellectual disability-seizures-macrocephaly-obesity syndrome"
          },
          {
            "code" : "369955",
            "display" : "Methylmalonic acidemia with homocystinuria, type cblJ"
          },
          {
            "code" : "369962",
            "display" : "Methylmalonic acidemia with homocystinuria, type cblX"
          },
          {
            "code" : "369970",
            "display" : "Microcornea-myopic chorioretinal atrophy-telecanthus syndrome"
          },
          {
            "code" : "369979",
            "display" : "Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome"
          },
          {
            "code" : "369992",
            "display" : "Severe dermatitis-multiple allergies-metabolic wasting syndrome"
          },
          {
            "code" : "369999",
            "display" : "Diffuse palmoplantar keratoderma with painful fissures"
          },
          {
            "code" : "37",
            "display" : "Acrodermatitis enteropathica"
          },
          {
            "code" : "370002",
            "display" : "Focal palmoplantar keratoderma with joint keratoses"
          },
          {
            "code" : "370010",
            "display" : "Intellectual disability-facial dysmorphism-hand anomalies syndrome"
          },
          {
            "code" : "370015",
            "display" : "Spondyloepimetaphyseal dysplasia, Isidor-Toutain type"
          },
          {
            "code" : "370022",
            "display" : "Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome"
          },
          {
            "code" : "370026",
            "display" : "Acute myeloid leukemia with t(8;16)(p11;p13) translocation"
          },
          {
            "code" : "370034",
            "display" : "Familial syringomyelia"
          },
          {
            "code" : "370039",
            "display" : "Angora hair nevus"
          },
          {
            "code" : "370046",
            "display" : "Didymosis aplasticosebacea"
          },
          {
            "code" : "370052",
            "display" : "SCALP syndrome"
          },
          {
            "code" : "370059",
            "display" : "NEVADA syndrome"
          },
          {
            "code" : "370076",
            "display" : "Fetal carbamazepine syndrome"
          },
          {
            "code" : "370079",
            "display" : "Proximal 16p11.2 microduplication syndrome"
          },
          {
            "code" : "370088",
            "display" : "Acute infantile liver failure-multisystemic involvement syndrome"
          },
          {
            "code" : "370091",
            "display" : "Oculocutaneous albinism type 5"
          },
          {
            "code" : "370097",
            "display" : "Oculocutaneous albinism type 6"
          },
          {
            "code" : "370103",
            "display" : "Primary dystonia, DYT17 type"
          },
          {
            "code" : "370109",
            "display" : "Ataxia-telangiectasia variant"
          },
          {
            "code" : "370127",
            "display" : "Medich giant platelet syndrome"
          },
          {
            "code" : "370131",
            "display" : "White platelet syndrome"
          },
          {
            "code" : "370334",
            "display" : "Extraskeletal Ewing sarcoma"
          },
          {
            "code" : "370348",
            "display" : "Peripheral primitive neuroectodermal tumor"
          },
          {
            "code" : "370396",
            "display" : "Small cell carcinoma of the ovary"
          },
          {
            "code" : "37042",
            "display" : "Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome"
          },
          {
            "code" : "370921",
            "display" : "STT3A-CDG"
          },
          {
            "code" : "370924",
            "display" : "STT3B-CDG"
          },
          {
            "code" : "370927",
            "display" : "SSR4-CDG"
          },
          {
            "code" : "370930",
            "display" : "XYLT1-CDG"
          },
          {
            "code" : "370933",
            "display" : "GM3 synthase deficiency"
          },
          {
            "code" : "370943",
            "display" : "Autism spectrum disorder-epilepsy-arthrogryposis syndrome"
          },
          {
            "code" : "370959",
            "display" : "Congenital muscular dystrophy with cerebellar involvement"
          },
          {
            "code" : "370968",
            "display" : "Congenital muscular dystrophy with intellectual disability"
          },
          {
            "code" : "370980",
            "display" : "Congenital muscular dystrophy without intellectual disability"
          },
          {
            "code" : "370997",
            "display" : "Muscle-eye-brain disease with bilateral multicystic leucodystrophy"
          },
          {
            "code" : "371",
            "display" : "Glycogen storage disease due to muscle phosphofructokinase deficiency"
          },
          {
            "code" : "371007",
            "display" : "Congenital muscular dystrophy with hyperlaxity"
          },
          {
            "code" : "371364",
            "display" : "Hypotonia-speech impairment-severe cognitive delay syndrome"
          },
          {
            "code" : "371428",
            "display" : "Multicentric osteolysis-nodulosis-arthropathy spectrum"
          },
          {
            "code" : "37202",
            "display" : "Interstitial cystitis"
          },
          {
            "code" : "373",
            "display" : "Simpson-Golabi-Behmel syndrome"
          },
          {
            "code" : "375",
            "display" : "Anti-glomerular basement membrane disease"
          },
          {
            "code" : "37553",
            "display" : "Andersen-Tawil syndrome"
          },
          {
            "code" : "37559",
            "display" : "Acquired kinky hair syndrome"
          },
          {
            "code" : "376",
            "display" : "Gordon syndrome"
          },
          {
            "code" : "37612",
            "display" : "Episodic ataxia type 1"
          },
          {
            "code" : "377",
            "display" : "Gorlin syndrome"
          },
          {
            "code" : "37748",
            "display" : "Schnitzler syndrome"
          },
          {
            "code" : "379",
            "display" : "Chronic granulomatous disease"
          },
          {
            "code" : "38",
            "display" : "Acrokeratoelastoidosis of Costa"
          },
          {
            "code" : "380",
            "display" : "Greig cephalopolysyndactyly syndrome"
          },
          {
            "code" : "381",
            "display" : "Griscelli syndrome"
          },
          {
            "code" : "382",
            "display" : "Guanidinoacetate methyltransferase deficiency"
          },
          {
            "code" : "384",
            "display" : "Huriez syndrome"
          },
          {
            "code" : "386",
            "display" : "Hepatic cystic hamartoma"
          },
          {
            "code" : "388",
            "display" : "Hirschsprung disease"
          },
          {
            "code" : "38874",
            "display" : "Dihydropyrimidinuria"
          },
          {
            "code" : "389",
            "display" : "Langerhans cell histiocytosis"
          },
          {
            "code" : "39",
            "display" : "Acromelanosis"
          },
          {
            "code" : "390",
            "display" : "Histoplasmosis"
          },
          {
            "code" : "39041",
            "display" : "Omenn syndrome"
          },
          {
            "code" : "39044",
            "display" : "Uveal melanoma"
          },
          {
            "code" : "391",
            "display" : "Classic Hodgkin lymphoma"
          },
          {
            "code" : "391307",
            "display" : "Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome"
          },
          {
            "code" : "391311",
            "display" : "Susceptibility to viral and mycobacterial infections due to STAT1 deficiency"
          },
          {
            "code" : "391316",
            "display" : "Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression"
          },
          {
            "code" : "391320",
            "display" : "East Texas bleeding disorder"
          },
          {
            "code" : "391327",
            "display" : "X-linked calvarial hyperostosis"
          },
          {
            "code" : "391330",
            "display" : "X-linked osteoporosis with fractures"
          },
          {
            "code" : "391343",
            "display" : "Fatal post-viral neurodegenerative disorder"
          },
          {
            "code" : "391348",
            "display" : "Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"
          },
          {
            "code" : "391351",
            "display" : "SURF1-related Charcot-Marie-Tooth disease type 4"
          },
          {
            "code" : "391366",
            "display" : "Growth retardation-mild developmental delay-chronic hepatitis syndrome"
          },
          {
            "code" : "391372",
            "display" : "Intellectual disability-severe speech delay-mild dysmorphism syndrome"
          },
          {
            "code" : "391376",
            "display" : "Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome"
          },
          {
            "code" : "391384",
            "display" : "Familial episodic pain syndrome"
          },
          {
            "code" : "391389",
            "display" : "Familial episodic pain syndrome with predominantly upper body involvement"
          },
          {
            "code" : "391392",
            "display" : "Familial episodic pain syndrome with predominantly lower limb involvement"
          },
          {
            "code" : "391397",
            "display" : "Hereditary sensory and autonomic neuropathy type 7"
          },
          {
            "code" : "391408",
            "display" : "Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome"
          },
          {
            "code" : "391411",
            "display" : "Atypical juvenile parkinsonism"
          },
          {
            "code" : "391417",
            "display" : "HSD10 disease"
          },
          {
            "code" : "391428",
            "display" : "HSD10 disease, infantile type"
          },
          {
            "code" : "391457",
            "display" : "HSD10 disease, neonatal type"
          },
          {
            "code" : "391474",
            "display" : "Frontorhiny"
          },
          {
            "code" : "391487",
            "display" : "Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome"
          },
          {
            "code" : "391490",
            "display" : "Adult-onset myasthenia gravis"
          },
          {
            "code" : "391497",
            "display" : "Juvenile myasthenia gravis"
          },
          {
            "code" : "391504",
            "display" : "Transient neonatal myasthenia gravis"
          },
          {
            "code" : "391641",
            "display" : "Feingold syndrome type 1"
          },
          {
            "code" : "391646",
            "display" : "Feingold syndrome type 2"
          },
          {
            "code" : "391651",
            "display" : "Glomus tumor"
          },
          {
            "code" : "391655",
            "display" : "Off-periods in Parkinson disease not responding to oral treatment"
          },
          {
            "code" : "391665",
            "display" : "Homozygous familial hypercholesterolemia"
          },
          {
            "code" : "391673",
            "display" : "Necrotizing enterocolitis"
          },
          {
            "code" : "391677",
            "display" : "Short stature-optic atrophy-Pelger-Huët anomaly syndrome"
          },
          {
            "code" : "391723",
            "display" : "Mucinous adenocarcinoma of the appendix"
          },
          {
            "code" : "392",
            "display" : "Holt-Oram syndrome"
          },
          {
            "code" : "393",
            "display" : "46,XX testicular difference of sex development"
          },
          {
            "code" : "394",
            "display" : "Classic homocystinuria"
          },
          {
            "code" : "394529",
            "display" : "Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type"
          },
          {
            "code" : "394532",
            "display" : "Multiple acyl-CoA dehydrogenase deficiency, mild type"
          },
          {
            "code" : "395",
            "display" : "Homocystinuria due to methylene tetrahydrofolate reductase deficiency"
          },
          {
            "code" : "396",
            "display" : "Chronic hiccup"
          },
          {
            "code" : "397",
            "display" : "Giant cell arteritis"
          },
          {
            "code" : "397587",
            "display" : "Deep dermatophytosis"
          },
          {
            "code" : "397590",
            "display" : "Silver-Russell syndrome due to a point mutation"
          },
          {
            "code" : "397593",
            "display" : "Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"
          },
          {
            "code" : "397596",
            "display" : "Activated PI3K-delta syndrome"
          },
          {
            "code" : "397606",
            "display" : "PrP systemic amyloidosis"
          },
          {
            "code" : "397612",
            "display" : "Macrocephaly-developmental delay syndrome"
          },
          {
            "code" : "397615",
            "display" : "Obesity due to CEP19 deficiency"
          },
          {
            "code" : "397618",
            "display" : "Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome"
          },
          {
            "code" : "397623",
            "display" : "Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome"
          },
          {
            "code" : "397685",
            "display" : "Familial hyperprolactinemia"
          },
          {
            "code" : "397692",
            "display" : "Hereditary isolated aplastic anemia"
          },
          {
            "code" : "397695",
            "display" : "3q27.3 microdeletion syndrome"
          },
          {
            "code" : "397709",
            "display" : "Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome"
          },
          {
            "code" : "397715",
            "display" : "Joubert syndrome with Jeune asphyxiating thoracic dystrophy"
          },
          {
            "code" : "397725",
            "display" : "COASY protein-associated neurodegeneration"
          },
          {
            "code" : "397735",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2U"
          },
          {
            "code" : "397744",
            "display" : "Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome"
          },
          {
            "code" : "397750",
            "display" : "Periodic paralysis with later-onset distal motor neuropathy"
          },
          {
            "code" : "397755",
            "display" : "Periodic paralysis with transient compartment-like syndrome"
          },
          {
            "code" : "397758",
            "display" : "Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies"
          },
          {
            "code" : "397787",
            "display" : "Severe combined immunodeficiency due to IKK2 deficiency"
          },
          {
            "code" : "397922",
            "display" : "Ferro-cerebro-cutaneous syndrome"
          },
          {
            "code" : "397927",
            "display" : "Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome"
          },
          {
            "code" : "397933",
            "display" : "Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome"
          },
          {
            "code" : "397937",
            "display" : "Polyglucosan body myopathy type 1"
          },
          {
            "code" : "397941",
            "display" : "MAN1B1-CDG"
          },
          {
            "code" : "397946",
            "display" : "Autosomal spastic paraplegia type 58"
          },
          {
            "code" : "397951",
            "display" : "Microcephaly-thin corpus callosum-intellectual disability syndrome"
          },
          {
            "code" : "397959",
            "display" : "TCR-alpha-beta-positive T-cell deficiency"
          },
          {
            "code" : "397964",
            "display" : "Combined immunodeficiency due to MALT1 deficiency"
          },
          {
            "code" : "397968",
            "display" : "Charcot-Marie-Tooth disease type 2R"
          },
          {
            "code" : "397973",
            "display" : "Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome"
          },
          {
            "code" : "398053",
            "display" : "Adenocarcinoma of the penis"
          },
          {
            "code" : "398058",
            "display" : "Squamous cell carcinoma of the penis"
          },
          {
            "code" : "398063",
            "display" : "Refractory celiac disease"
          },
          {
            "code" : "398069",
            "display" : "MAGEL2-related Prader-Willi-like syndrome"
          },
          {
            "code" : "398079",
            "display" : "SIM1-related Prader-Willi-like syndrome"
          },
          {
            "code" : "398088",
            "display" : "Hereditary cryohydrocytosis with normal stomatin"
          },
          {
            "code" : "398097",
            "display" : "Neonatal antiphospholipid syndrome"
          },
          {
            "code" : "398109",
            "display" : "Neonatal autoimmune hemolytic anemia"
          },
          {
            "code" : "398117",
            "display" : "Neonatal dermatomyositis"
          },
          {
            "code" : "39812",
            "display" : "Graft versus host disease"
          },
          {
            "code" : "398124",
            "display" : "Neonatal lupus erythematosus"
          },
          {
            "code" : "398127",
            "display" : "Neonatal scleroderma"
          },
          {
            "code" : "398147",
            "display" : "Persistent idiopathic facial pain"
          },
          {
            "code" : "398156",
            "display" : "Oculoauriculofrontonasal syndrome"
          },
          {
            "code" : "398166",
            "display" : "Focal facial dermal dysplasia"
          },
          {
            "code" : "398173",
            "display" : "Focal facial dermal dysplasia type II"
          },
          {
            "code" : "398189",
            "display" : "Focal facial dermal dysplasia type IV"
          },
          {
            "code" : "398961",
            "display" : "Mucinous adenocarcinoma of ovary"
          },
          {
            "code" : "398971",
            "display" : "Clear cell adenocarcinoma of the ovary"
          },
          {
            "code" : "398987",
            "display" : "Malignant teratoma of ovary"
          },
          {
            "code" : "399",
            "display" : "Huntington disease"
          },
          {
            "code" : "399058",
            "display" : "Alpha-B crystallin-related late-onset myopathy"
          },
          {
            "code" : "399081",
            "display" : "KLHL9-related early-onset distal myopathy"
          },
          {
            "code" : "399086",
            "display" : "Finnish upper limb-onset distal myopathy"
          },
          {
            "code" : "399096",
            "display" : "Distal anoctaminopathy"
          },
          {
            "code" : "399103",
            "display" : "Distal nebulin myopathy"
          },
          {
            "code" : "399175",
            "display" : "Traumatic avascular necrosis"
          },
          {
            "code" : "399180",
            "display" : "Secondary non-traumatic avascular necrosis"
          },
          {
            "code" : "399293",
            "display" : "Osteonecrosis of the jaw"
          },
          {
            "code" : "399307",
            "display" : "Idiopathic avascular necrosis"
          },
          {
            "code" : "399329",
            "display" : "Epiphysiolysis of the hip"
          },
          {
            "code" : "399805",
            "display" : "Male infertility with azoospermia or oligozoospermia due to single gene mutation"
          },
          {
            "code" : "399808",
            "display" : "Male infertility with teratozoospermia due to single gene mutation"
          },
          {
            "code" : "40",
            "display" : "Acromesomelic dysplasia, Maroteaux type"
          },
          {
            "code" : "400",
            "display" : "Cystic echinococcosis"
          },
          {
            "code" : "401",
            "display" : "Hymenolepiasis"
          },
          {
            "code" : "401764",
            "display" : "Pancytopenia-developmental delay syndrome"
          },
          {
            "code" : "401768",
            "display" : "Proximal myopathy with extrapyramidal signs"
          },
          {
            "code" : "401777",
            "display" : "Optic atrophy-intellectual disability syndrome"
          },
          {
            "code" : "401780",
            "display" : "Autosomal recessive spastic paraplegia type 61"
          },
          {
            "code" : "401785",
            "display" : "Autosomal recessive spastic paraplegia type 62"
          },
          {
            "code" : "401795",
            "display" : "Autosomal recessive spastic paraplegia type 59"
          },
          {
            "code" : "401800",
            "display" : "Autosomal recessive spastic paraplegia type 60"
          },
          {
            "code" : "401805",
            "display" : "Autosomal recessive spastic paraplegia type 63"
          },
          {
            "code" : "401810",
            "display" : "Autosomal recessive spastic paraplegia type 64"
          },
          {
            "code" : "401815",
            "display" : "Autosomal recessive spastic paraplegia type 66"
          },
          {
            "code" : "401820",
            "display" : "Autosomal recessive spastic paraplegia type 67"
          },
          {
            "code" : "401830",
            "display" : "Autosomal recessive spastic paraplegia type 69"
          },
          {
            "code" : "401835",
            "display" : "Autosomal recessive spastic paraplegia type 70"
          },
          {
            "code" : "401840",
            "display" : "Autosomal recessive spastic paraplegia type 71"
          },
          {
            "code" : "401849",
            "display" : "Autosomal spastic paraplegia type 72"
          },
          {
            "code" : "401859",
            "display" : "Lipoic acid synthetase deficiency"
          },
          {
            "code" : "401862",
            "display" : "Lipoyl transferase 1 deficiency"
          },
          {
            "code" : "401866",
            "display" : "Childhood-onset spasticity with hyperglycinemia"
          },
          {
            "code" : "401869",
            "display" : "Multiple mitochondrial dysfunctions syndrome type 1"
          },
          {
            "code" : "401874",
            "display" : "Multiple mitochondrial dysfunctions syndrome type 2"
          },
          {
            "code" : "401901",
            "display" : "Huntington disease-like syndrome due to C9ORF72 expansions"
          },
          {
            "code" : "401911",
            "display" : "AXIN2-related attenuated familial adenomatous polyposis"
          },
          {
            "code" : "401920",
            "display" : "Fibrolamellar hepatocellular carcinoma"
          },
          {
            "code" : "401923",
            "display" : "9q31.1q31.3 microdeletion syndrome"
          },
          {
            "code" : "401935",
            "display" : "14q24.1q24.3 microdeletion syndrome"
          },
          {
            "code" : "401942",
            "display" : "Familial median cleft of the upper and lower lips"
          },
          {
            "code" : "401945",
            "display" : "Moyamoya disease with early-onset achalasia"
          },
          {
            "code" : "401948",
            "display" : "Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency"
          },
          {
            "code" : "401953",
            "display" : "Episodic ataxia with slurred speech"
          },
          {
            "code" : "401959",
            "display" : "Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome"
          },
          {
            "code" : "401964",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons"
          },
          {
            "code" : "401973",
            "display" : "MEND syndrome"
          },
          {
            "code" : "401979",
            "display" : "Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type"
          },
          {
            "code" : "401986",
            "display" : "1p31p32 microdeletion syndrome"
          },
          {
            "code" : "401996",
            "display" : "Karyomegalic interstitial nephritis"
          },
          {
            "code" : "402003",
            "display" : "Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering"
          },
          {
            "code" : "402014",
            "display" : "Acute myeloid leukemia with t(6;9)(p23;q34)"
          },
          {
            "code" : "402017",
            "display" : "Acute myeloid leukemia with t(9;11)(p22;q23)"
          },
          {
            "code" : "402020",
            "display" : "Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)"
          },
          {
            "code" : "402023",
            "display" : "Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)"
          },
          {
            "code" : "402026",
            "display" : "Acute myeloid leukemia with NPM1 somatic mutations"
          },
          {
            "code" : "402035",
            "display" : "Eosinophilic colitis"
          },
          {
            "code" : "402041",
            "display" : "Autosomal recessive distal renal tubular acidosis"
          },
          {
            "code" : "402075",
            "display" : "Familial bicuspid aortic valve"
          },
          {
            "code" : "402082",
            "display" : "Progressive myoclonic epilepsy type 5"
          },
          {
            "code" : "402364",
            "display" : "Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"
          },
          {
            "code" : "402823",
            "display" : "Hepatitis delta"
          },
          {
            "code" : "403",
            "display" : "Familial hyperaldosteronism type I"
          },
          {
            "code" : "40366",
            "display" : "Acitretin/etretinate embryopathy"
          },
          {
            "code" : "404",
            "display" : "Familial hyperaldosteronism type II"
          },
          {
            "code" : "404437",
            "display" : "Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome"
          },
          {
            "code" : "404440",
            "display" : "Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency"
          },
          {
            "code" : "404443",
            "display" : "Tatton-Brown-Rahman syndrome"
          },
          {
            "code" : "404448",
            "display" : "ADNP syndrome"
          },
          {
            "code" : "404451",
            "display" : "FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome"
          },
          {
            "code" : "404454",
            "display" : "Alacrimia-choreoathetosis-liver dysfunction syndrome"
          },
          {
            "code" : "404463",
            "display" : "Multisystemic smooth muscle dysfunction syndrome"
          },
          {
            "code" : "404466",
            "display" : "Female infertility due to zona pellucida defect"
          },
          {
            "code" : "404473",
            "display" : "Severe intellectual disability-progressive spastic diplegia syndrome"
          },
          {
            "code" : "404476",
            "display" : "Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome"
          },
          {
            "code" : "404493",
            "display" : "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency"
          },
          {
            "code" : "404499",
            "display" : "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency"
          },
          {
            "code" : "404507",
            "display" : "Chondromyxoid fibroma"
          },
          {
            "code" : "404511",
            "display" : "Clear cell papillary renal cell carcinoma"
          },
          {
            "code" : "404514",
            "display" : "Acquired cystic disease-associated renal cell carcinoma"
          },
          {
            "code" : "404521",
            "display" : "Spinal muscular atrophy with respiratory distress type 2"
          },
          {
            "code" : "404546",
            "display" : "DITRA"
          },
          {
            "code" : "404553",
            "display" : "Vasculitis due to ADA2 deficiency"
          },
          {
            "code" : "404560",
            "display" : "Familial atypical multiple mole melanoma syndrome"
          },
          {
            "code" : "405",
            "display" : "Familial hypocalciuric hypercalcemia"
          },
          {
            "code" : "407",
            "display" : "Glycine encephalopathy"
          },
          {
            "code" : "408",
            "display" : "Isolated glycerol kinase deficiency"
          },
          {
            "code" : "409",
            "display" : "Hyperkeratosis lenticularis perstans"
          },
          {
            "code" : "40923",
            "display" : "Eales disease"
          },
          {
            "code" : "41",
            "display" : "Dyschromatosis symmetrica hereditaria"
          },
          {
            "code" : "411493",
            "display" : "Pontocerebellar hypoplasia type 10"
          },
          {
            "code" : "411501",
            "display" : "Williams-Campbell syndrome"
          },
          {
            "code" : "411511",
            "display" : "Angelman syndrome due to a point mutation"
          },
          {
            "code" : "411515",
            "display" : "Angelman syndrome due to imprinting defect in 15q11-q13"
          },
          {
            "code" : "411527",
            "display" : "Central retinal vein occlusion"
          },
          {
            "code" : "411536",
            "display" : "Mild phosphoribosylpyrophosphate synthetase superactivity"
          },
          {
            "code" : "411543",
            "display" : "Severe phosphoribosylpyrophosphate synthetase superactivity"
          },
          {
            "code" : "411590",
            "display" : "Wolfram-like syndrome"
          },
          {
            "code" : "411593",
            "display" : "Insulin autoimmune syndrome"
          },
          {
            "code" : "411602",
            "display" : "Hereditary late-onset Parkinson disease"
          },
          {
            "code" : "411629",
            "display" : "Infantile nephropathic cystinosis"
          },
          {
            "code" : "411634",
            "display" : "Juvenile nephropathic cystinosis"
          },
          {
            "code" : "411641",
            "display" : "Ocular cystinosis"
          },
          {
            "code" : "411696",
            "display" : "Proton-pump inhibitor-responsive esophageal eosinophilia"
          },
          {
            "code" : "411703",
            "display" : "Pulmonary non-tuberculous mycobacterial infection"
          },
          {
            "code" : "411709",
            "display" : "Renal agenesis"
          },
          {
            "code" : "411712",
            "display" : "Maternal riboflavin deficiency"
          },
          {
            "code" : "411777",
            "display" : "Generalized eruptive keratoacanthoma"
          },
          {
            "code" : "411788",
            "display" : "Familial isolated trichomegaly"
          },
          {
            "code" : "411986",
            "display" : "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome"
          },
          {
            "code" : "412",
            "display" : "Dysbetalipoproteinemia"
          },
          {
            "code" : "412022",
            "display" : "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome"
          },
          {
            "code" : "412035",
            "display" : "13q12.3 microdeletion syndrome"
          },
          {
            "code" : "412057",
            "display" : "Autosomal recessive cerebellar ataxia due to STUB1 deficiency"
          },
          {
            "code" : "412066",
            "display" : "PRKAR1B-related neurodegenerative dementia with intermediate filaments"
          },
          {
            "code" : "412069",
            "display" : "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome"
          },
          {
            "code" : "412181",
            "display" : "Epidermolysis bullosa simplex due to BP230 deficiency"
          },
          {
            "code" : "412189",
            "display" : "Epidermolysis bullosa simplex due to exophilin 5 deficiency"
          },
          {
            "code" : "412206",
            "display" : "Primary failure of tooth eruption"
          },
          {
            "code" : "412217",
            "display" : "Dystonia-aphonia syndrome"
          },
          {
            "code" : "414",
            "display" : "Gyrate atrophy of choroid and retina"
          },
          {
            "code" : "415",
            "display" : "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome"
          },
          {
            "code" : "416",
            "display" : "Primary hyperoxaluria"
          },
          {
            "code" : "417",
            "display" : "Neonatal severe primary hyperparathyroidism"
          },
          {
            "code" : "41751",
            "display" : "Bietti crystalline dystrophy"
          },
          {
            "code" : "418945",
            "display" : "Carcinoma of esophagus, salivary gland type"
          },
          {
            "code" : "418951",
            "display" : "Undifferentiated carcinoma of esophagus"
          },
          {
            "code" : "418959",
            "display" : "Squamous cell carcinoma of the stomach"
          },
          {
            "code" : "419",
            "display" : "Hyperprolinemia type 1"
          },
          {
            "code" : "42",
            "display" : "Medium chain acyl-CoA dehydrogenase deficiency"
          },
          {
            "code" : "420179",
            "display" : "Malan overgrowth syndrome"
          },
          {
            "code" : "420259",
            "display" : "Secondary pulmonary alveolar proteinosis"
          },
          {
            "code" : "420402",
            "display" : "Semicircular canal dehiscence syndrome"
          },
          {
            "code" : "420429",
            "display" : "Glycogen storage disease due to acid maltase deficiency, late-onset"
          },
          {
            "code" : "420485",
            "display" : "Cranio-cervical dystonia with laryngeal and upper-limb involvement"
          },
          {
            "code" : "420492",
            "display" : "Adult-onset cervical dystonia, DYT23 type"
          },
          {
            "code" : "420556",
            "display" : "Visual snow syndrome"
          },
          {
            "code" : "420561",
            "display" : "Temple-Baraitser syndrome"
          },
          {
            "code" : "420566",
            "display" : "Bleeding disorder due to CalDAG-GEFI deficiency"
          },
          {
            "code" : "420573",
            "display" : "Severe combined immunodeficiency due to CTPS1 deficiency"
          },
          {
            "code" : "420584",
            "display" : "Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome"
          },
          {
            "code" : "420611",
            "display" : "Transient myeloproliferative syndrome"
          },
          {
            "code" : "42062",
            "display" : "Iminoglycinuria"
          },
          {
            "code" : "420686",
            "display" : "Woolly hair-palmoplantar keratoderma syndrome"
          },
          {
            "code" : "420699",
            "display" : "Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency"
          },
          {
            "code" : "420702",
            "display" : "Autosomal recessive severe congenital neutropenia due to CSF3R deficiency"
          },
          {
            "code" : "420728",
            "display" : "Combined oxidative phosphorylation defect type 20"
          },
          {
            "code" : "420733",
            "display" : "Combined oxidative phosphorylation defect type 21"
          },
          {
            "code" : "420741",
            "display" : "RIDDLE syndrome"
          },
          {
            "code" : "420789",
            "display" : "Autoimmune encephalopathy with parasomnia and obstructive sleep apnea"
          },
          {
            "code" : "420794",
            "display" : "Cono-spondylar dysplasia"
          },
          {
            "code" : "422",
            "display" : "Idiopathic/heritable pulmonary arterial hypertension"
          },
          {
            "code" : "422526",
            "display" : "Hereditary clear cell renal cell carcinoma"
          },
          {
            "code" : "423",
            "display" : "Malignant hyperthermia of anesthesia"
          },
          {
            "code" : "423275",
            "display" : "Spinocerebellar ataxia type 40"
          },
          {
            "code" : "423296",
            "display" : "Spinocerebellar ataxia type 38"
          },
          {
            "code" : "423306",
            "display" : "Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome"
          },
          {
            "code" : "423384",
            "display" : "Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"
          },
          {
            "code" : "423454",
            "display" : "Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"
          },
          {
            "code" : "423461",
            "display" : "Mucolipidosis type III alpha/beta"
          },
          {
            "code" : "423470",
            "display" : "Mucolipidosis type III gamma"
          },
          {
            "code" : "423479",
            "display" : "X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome"
          },
          {
            "code" : "423693",
            "display" : "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect"
          },
          {
            "code" : "423712",
            "display" : "Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy"
          },
          {
            "code" : "423717",
            "display" : "Cutaneous larva migrans"
          },
          {
            "code" : "423786",
            "display" : "Undifferentiated carcinoma of stomach"
          },
          {
            "code" : "423894",
            "display" : "Microcephaly-complex motor and sensory axonal neuropathy syndrome"
          },
          {
            "code" : "423968",
            "display" : "Squamous cell carcinoma of the small intestine"
          },
          {
            "code" : "423994",
            "display" : "Squamous cell carcinoma of the colon"
          },
          {
            "code" : "424",
            "display" : "Familial hyperthyroidism due to mutations in TSH receptor"
          },
          {
            "code" : "424002",
            "display" : "Squamous cell carcinoma of the rectum"
          },
          {
            "code" : "424016",
            "display" : "Adenocarcinoma of the anal canal"
          },
          {
            "code" : "424019",
            "display" : "Squamous cell carcinoma of the anal canal"
          },
          {
            "code" : "424027",
            "display" : "Progressive myoclonic epilepsy type 8"
          },
          {
            "code" : "424039",
            "display" : "Squamous cell carcinoma of pancreas"
          },
          {
            "code" : "424046",
            "display" : "Acinar cell carcinoma of pancreas"
          },
          {
            "code" : "424053",
            "display" : "Mucinous cystadenocarcinoma of the pancreas"
          },
          {
            "code" : "424058",
            "display" : "Intraductal papillary mucinous carcinoma of pancreas"
          },
          {
            "code" : "424065",
            "display" : "Solid pseudopapillary carcinoma of pancreas"
          },
          {
            "code" : "424073",
            "display" : "Serous cystadenocarcinoma of pancreas"
          },
          {
            "code" : "424080",
            "display" : "Undifferentiated carcinoma with osteoclast-like giant cells of pancreas"
          },
          {
            "code" : "424099",
            "display" : "Colobomatous microphthalmia-rhizomelic dysplasia syndrome"
          },
          {
            "code" : "424107",
            "display" : "Congenital myopathy with myasthenic-like onset"
          },
          {
            "code" : "424261",
            "display" : "TOR1AIP1-related limb-girdle muscular dystrophy"
          },
          {
            "code" : "424943",
            "display" : "Adenocarcinoma of the liver and intrahepatic biliary tract"
          },
          {
            "code" : "424970",
            "display" : "Undifferentiated carcinoma of liver and intrahepatic biliary tract"
          },
          {
            "code" : "424975",
            "display" : "Squamous cell carcinoma of liver and intrahepatic biliary tract"
          },
          {
            "code" : "424982",
            "display" : "Biliary cystadenocarcinoma"
          },
          {
            "code" : "424991",
            "display" : "Adenocarcinoma of the gallbladder and extrahepatic biliary tract"
          },
          {
            "code" : "424996",
            "display" : "Squamous cell carcinoma of gallbladder and extrahepatic biliary tract"
          },
          {
            "code" : "425",
            "display" : "Apolipoprotein A-I deficiency"
          },
          {
            "code" : "425120",
            "display" : "STING-associated vasculopathy with onset in infancy"
          },
          {
            "code" : "42642",
            "display" : "PFAPA syndrome"
          },
          {
            "code" : "42665",
            "display" : "Tietz syndrome"
          },
          {
            "code" : "427",
            "display" : "Familial hypoaldosteronism"
          },
          {
            "code" : "42775",
            "display" : "PHACE syndrome"
          },
          {
            "code" : "428",
            "display" : "Autosomal dominant hypocalcemia"
          },
          {
            "code" : "429",
            "display" : "Hypochondroplasia"
          },
          {
            "code" : "43",
            "display" : "X-linked adrenoleukodystrophy"
          },
          {
            "code" : "431140",
            "display" : "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome"
          },
          {
            "code" : "431149",
            "display" : "Combined immunodeficiency due to OX40 deficiency"
          },
          {
            "code" : "43115",
            "display" : "Hereditary myopathy with lactic acidosis due to ISCU deficiency"
          },
          {
            "code" : "43116",
            "display" : "Serotonin syndrome"
          },
          {
            "code" : "431166",
            "display" : "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection"
          },
          {
            "code" : "43117",
            "display" : "Acute tricyclic antidepressant poisoning"
          },
          {
            "code" : "43119",
            "display" : "Acute poisoning by drugs with membrane-stabilizing effect"
          },
          {
            "code" : "431255",
            "display" : "Scapuloperoneal spinal muscular atrophy"
          },
          {
            "code" : "431272",
            "display" : "X-linked scapuloperoneal muscular dystrophy"
          },
          {
            "code" : "431329",
            "display" : "Autosomal recessive spastic paraplegia type 57"
          },
          {
            "code" : "431341",
            "display" : "Patent urachus"
          },
          {
            "code" : "431344",
            "display" : "Urachal sinus"
          },
          {
            "code" : "431347",
            "display" : "Urachal diverticulum"
          },
          {
            "code" : "431361",
            "display" : "Progressive encephalopathy with leukodystrophy due to DECR deficiency"
          },
          {
            "code" : "432",
            "display" : "Normosmic congenital hypogonadotropic hypogonadism"
          },
          {
            "code" : "43393",
            "display" : "Lambert-Eaton myasthenic syndrome"
          },
          {
            "code" : "434179",
            "display" : "Orofaciodigital syndrome type 14"
          },
          {
            "code" : "435329",
            "display" : "Familial ossifying fibroma"
          },
          {
            "code" : "435372",
            "display" : "Anterior urethral valve"
          },
          {
            "code" : "435387",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2Y"
          },
          {
            "code" : "435438",
            "display" : "Progressive myoclonic epilepsy type 7"
          },
          {
            "code" : "435628",
            "display" : "Keppen-Lubinsky syndrome"
          },
          {
            "code" : "435638",
            "display" : "3p25.3 microdeletion syndrome"
          },
          {
            "code" : "435651",
            "display" : "CIDEC-related familial partial lipodystrophy"
          },
          {
            "code" : "435660",
            "display" : "LIPE-related familial partial lipodystrophy"
          },
          {
            "code" : "435804",
            "display" : "Short stature-advanced bone age-early-onset osteoarthritis syndrome"
          },
          {
            "code" : "435819",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation"
          },
          {
            "code" : "435845",
            "display" : "Lethal neonatal spasticity-epileptic encephalopathy syndrome"
          },
          {
            "code" : "435930",
            "display" : "Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"
          },
          {
            "code" : "435934",
            "display" : "COG2-CDG"
          },
          {
            "code" : "435938",
            "display" : "X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome"
          },
          {
            "code" : "435953",
            "display" : "Progeroid features-hepatocellular carcinoma predisposition syndrome"
          },
          {
            "code" : "435988",
            "display" : "Chronic atrial and intestinal dysrhythmia syndrome"
          },
          {
            "code" : "435998",
            "display" : "Autosomal recessive intermediate Charcot-Marie-Tooth disease type D"
          },
          {
            "code" : "436",
            "display" : "Hypophosphatasia"
          },
          {
            "code" : "436003",
            "display" : "Contractures-developmental delay-Pierre Robin syndrome"
          },
          {
            "code" : "436141",
            "display" : "Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome"
          },
          {
            "code" : "436144",
            "display" : "Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome"
          },
          {
            "code" : "436151",
            "display" : "Intellectual disability-expressive aphasia-facial dysmorphism syndrome"
          },
          {
            "code" : "436159",
            "display" : "Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency"
          },
          {
            "code" : "436166",
            "display" : "Periodic fever-infantile enterocolitis-autoinflammatory syndrome"
          },
          {
            "code" : "436169",
            "display" : "Thrombomodulin-related bleeding disorder"
          },
          {
            "code" : "436174",
            "display" : "Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome"
          },
          {
            "code" : "436182",
            "display" : "Microcephalic primordial dwarfism-insulin resistance syndrome"
          },
          {
            "code" : "436242",
            "display" : "Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease"
          },
          {
            "code" : "436245",
            "display" : "Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome"
          },
          {
            "code" : "436252",
            "display" : "Combined immunodeficiency-enteropathy spectrum"
          },
          {
            "code" : "436271",
            "display" : "Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy"
          },
          {
            "code" : "436274",
            "display" : "Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa"
          },
          {
            "code" : "437552",
            "display" : "Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity"
          },
          {
            "code" : "438075",
            "display" : "Ketoacidosis due to monocarboxylate transporter-1 deficiency"
          },
          {
            "code" : "438114",
            "display" : "RARS-related autosomal recessive hypomyelinating leukodystrophy"
          },
          {
            "code" : "438117",
            "display" : "Steel syndrome"
          },
          {
            "code" : "438134",
            "display" : "PCNA-related progressive neurodegenerative photosensitivity syndrome"
          },
          {
            "code" : "438159",
            "display" : "STAT3-related early-onset multisystem autoimmune disease"
          },
          {
            "code" : "438178",
            "display" : "Fatty acyl-CoA reductase 1 deficiency"
          },
          {
            "code" : "438207",
            "display" : "Severe autosomal recessive macrothrombocytopenia"
          },
          {
            "code" : "438213",
            "display" : "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome"
          },
          {
            "code" : "438216",
            "display" : "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation"
          },
          {
            "code" : "438266",
            "display" : "Progressive encephalomyelitis with rigidity and myoclonus"
          },
          {
            "code" : "438274",
            "display" : "GCGR-related hyperglucagonemia"
          },
          {
            "code" : "438279",
            "display" : "Human infection by orthopoxvirus"
          },
          {
            "code" : "439",
            "display" : "Isolated right ventricular hypoplasia"
          },
          {
            "code" : "439167",
            "display" : "Placental insufficiency"
          },
          {
            "code" : "439175",
            "display" : "Pediatric arterial ischemic stroke"
          },
          {
            "code" : "439196",
            "display" : "Zinc-responsive necrolytic acral erythema"
          },
          {
            "code" : "439202",
            "display" : "Non-recovering obstetric brachial plexus lesion"
          },
          {
            "code" : "439212",
            "display" : "Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome"
          },
          {
            "code" : "439218",
            "display" : "KCNQ2-related epileptic encephalopathy"
          },
          {
            "code" : "439224",
            "display" : "ALECT2 amyloidosis"
          },
          {
            "code" : "439232",
            "display" : "AApoAIV amyloidosis"
          },
          {
            "code" : "439254",
            "display" : "ITM2B amyloidosis"
          },
          {
            "code" : "439729",
            "display" : "Cutaneous polyarteritis nodosa"
          },
          {
            "code" : "439737",
            "display" : "Primary polyarteritis nodosa"
          },
          {
            "code" : "439746",
            "display" : "Secondary polyarteritis nodosa"
          },
          {
            "code" : "439755",
            "display" : "Single-organ polyarteritis nodosa"
          },
          {
            "code" : "439762",
            "display" : "Systemic polyarteritis nodosa"
          },
          {
            "code" : "439822",
            "display" : "PDE4D haploinsufficiency syndrome"
          },
          {
            "code" : "439854",
            "display" : "Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease"
          },
          {
            "code" : "439881",
            "display" : "Plastic bronchitis"
          },
          {
            "code" : "439897",
            "display" : "Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome"
          },
          {
            "code" : "44",
            "display" : "Neonatal adrenoleukodystrophy"
          },
          {
            "code" : "440221",
            "display" : "Congenital oculomotor nerve palsy"
          },
          {
            "code" : "440233",
            "display" : "Congenital abducens nerve palsy"
          },
          {
            "code" : "440354",
            "display" : "Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome"
          },
          {
            "code" : "440368",
            "display" : "Necrotizing soft tissue infection"
          },
          {
            "code" : "440392",
            "display" : "Interstitial lung disease due to SP-C deficiency"
          },
          {
            "code" : "440402",
            "display" : "Interstitial lung disease due to ABCA3 deficiency"
          },
          {
            "code" : "440427",
            "display" : "Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency"
          },
          {
            "code" : "440437",
            "display" : "Familial colorectal cancer Type X"
          },
          {
            "code" : "440706",
            "display" : "Ribose-5-P isomerase deficiency"
          },
          {
            "code" : "440713",
            "display" : "Isolated sedoheptulokinase deficiency"
          },
          {
            "code" : "440724",
            "display" : "Extensive peripapillary myelinated nerve fibers"
          },
          {
            "code" : "440727",
            "display" : "Combined hamartoma of the retina and retinal pigment epithelium"
          },
          {
            "code" : "440731",
            "display" : "L-ferritin deficiency"
          },
          {
            "code" : "440987",
            "display" : "Isolated agenesis of gallbladder"
          },
          {
            "code" : "441",
            "display" : "Pure autonomic failure"
          },
          {
            "code" : "441447",
            "display" : "Early-onset posterior subcapsular cataract"
          },
          {
            "code" : "441452",
            "display" : "Early-onset lamellar cataract"
          },
          {
            "code" : "442582",
            "display" : "AH amyloidosis"
          },
          {
            "code" : "442835",
            "display" : "Non-specific early-onset epileptic encephalopathy"
          },
          {
            "code" : "443057",
            "display" : "Sporadic porphyria cutanea tarda"
          },
          {
            "code" : "443062",
            "display" : "Familial porphyria cutanea tarda"
          },
          {
            "code" : "443070",
            "display" : "Hemicrania continua"
          },
          {
            "code" : "443073",
            "display" : "Charcot-Marie-Tooth disease type 2S"
          },
          {
            "code" : "443079",
            "display" : "Central serous chorioretinopathy"
          },
          {
            "code" : "443084",
            "display" : "Baroreflex failure"
          },
          {
            "code" : "443087",
            "display" : "46,XY difference of sex development due to testicular 17,20-desmolase deficiency"
          },
          {
            "code" : "443098",
            "display" : "Hyperostosis cranialis interna"
          },
          {
            "code" : "443101",
            "display" : "Hypothalamic adipsic hypernatraemia syndrome"
          },
          {
            "code" : "443159",
            "display" : "Lymphoplasmacytic lymphoma without IgM production"
          },
          {
            "code" : "443162",
            "display" : "NDE1-related microhydranencephaly"
          },
          {
            "code" : "443167",
            "display" : "NUT midline carcinoma"
          },
          {
            "code" : "443173",
            "display" : "Postpartum psychosis"
          },
          {
            "code" : "443180",
            "display" : "Spontaneous intracranial hypotension"
          },
          {
            "code" : "443192",
            "display" : "Classic stiff person syndrome"
          },
          {
            "code" : "443197",
            "display" : "X-linked erythropoietic protoporphyria"
          },
          {
            "code" : "443227",
            "display" : "Paratyphoid fever"
          },
          {
            "code" : "443236",
            "display" : "Postural orthostatic tachycardia syndrome due to NET deficiency"
          },
          {
            "code" : "443291",
            "display" : "HIV-associated cancer"
          },
          {
            "code" : "443804",
            "display" : "Focal stiff limb syndrome"
          },
          {
            "code" : "443811",
            "display" : "PGM3-CDG"
          },
          {
            "code" : "443950",
            "display" : "DNAJB2-related Charcot-Marie-Tooth disease type 2"
          },
          {
            "code" : "443988",
            "display" : "Ventriculomegaly-cystic kidney disease"
          },
          {
            "code" : "443995",
            "display" : "Mandibulofacial dysostosis with alopecia"
          },
          {
            "code" : "444",
            "display" : "Marie Unna hereditary hypotrichosis"
          },
          {
            "code" : "444002",
            "display" : "11q22.2q22.3 microdeletion syndrome"
          },
          {
            "code" : "444013",
            "display" : "Combined oxidative phosphorylation defect type 23"
          },
          {
            "code" : "444048",
            "display" : "46,XX ovarian dysgenesis-short stature syndrome"
          },
          {
            "code" : "444051",
            "display" : "20q11.2 microdeletion syndrome"
          },
          {
            "code" : "444069",
            "display" : "Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome"
          },
          {
            "code" : "444072",
            "display" : "Cerebellar-facial-dental syndrome"
          },
          {
            "code" : "444077",
            "display" : "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome"
          },
          {
            "code" : "444092",
            "display" : "Autoimmune interstitial lung disease-arthritis syndrome"
          },
          {
            "code" : "444099",
            "display" : "Autosomal dominant spastic paraplegia type 73"
          },
          {
            "code" : "444138",
            "display" : "Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome"
          },
          {
            "code" : "444316",
            "display" : "Idiopathic phalangeal acro-osteolysis"
          },
          {
            "code" : "444458",
            "display" : "Combined oxidative phosphorylation defect type 24"
          },
          {
            "code" : "444463",
            "display" : "Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome"
          },
          {
            "code" : "444490",
            "display" : "Familial chylomicronemia syndrome"
          },
          {
            "code" : "445018",
            "display" : "Combined immunodeficiency due to LRBA deficiency"
          },
          {
            "code" : "445038",
            "display" : "3-methylglutaconic aciduria type 7"
          },
          {
            "code" : "445062",
            "display" : "Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome"
          },
          {
            "code" : "445110",
            "display" : "Limb-girdle muscular dystrophy due to POMK deficiency"
          },
          {
            "code" : "446",
            "display" : "Neonatal hemochromatosis"
          },
          {
            "code" : "447",
            "display" : "Paroxysmal nocturnal hemoglobinuria"
          },
          {
            "code" : "447731",
            "display" : "NIK deficiency"
          },
          {
            "code" : "447737",
            "display" : "DOCK2 deficiency"
          },
          {
            "code" : "447740",
            "display" : "Susceptibility to localized juvenile periodontitis"
          },
          {
            "code" : "447753",
            "display" : "Autosomal dominant spastic paraplegia type 9A"
          },
          {
            "code" : "447757",
            "display" : "Autosomal dominant spastic paraplegia type 9B"
          },
          {
            "code" : "447760",
            "display" : "Autosomal recessive spastic paraplegia type 9B"
          },
          {
            "code" : "447764",
            "display" : "IgG4-related sclerosing cholangitis"
          },
          {
            "code" : "447774",
            "display" : "Secondary sclerosing cholangitis"
          },
          {
            "code" : "447777",
            "display" : "Keratocystic odontogenic tumor"
          },
          {
            "code" : "447784",
            "display" : "Mitochondrial pyruvate carrier deficiency"
          },
          {
            "code" : "447788",
            "display" : "Cerebral visual impairment"
          },
          {
            "code" : "447795",
            "display" : "Lipoyl transferase 2 deficiency"
          },
          {
            "code" : "447877",
            "display" : "Polymerase proofreading-related adenomatous polyposis"
          },
          {
            "code" : "447881",
            "display" : "Idiopathic dropped head syndrome"
          },
          {
            "code" : "447893",
            "display" : "Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome"
          },
          {
            "code" : "447896",
            "display" : "Tremor-ataxia-central hypomyelination syndrome"
          },
          {
            "code" : "447954",
            "display" : "Combined oxidative phosphorylation defect type 25"
          },
          {
            "code" : "447961",
            "display" : "Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"
          },
          {
            "code" : "447964",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2V"
          },
          {
            "code" : "447974",
            "display" : "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"
          },
          {
            "code" : "447977",
            "display" : "Progressive scapulohumeroperoneal distal myopathy"
          },
          {
            "code" : "447980",
            "display" : "19p13.3 microduplication syndrome"
          },
          {
            "code" : "447997",
            "display" : "Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"
          },
          {
            "code" : "448010",
            "display" : "CAD-CDG"
          },
          {
            "code" : "448237",
            "display" : "Zika virus disease"
          },
          {
            "code" : "448242",
            "display" : "Autosomal recessive brachyolmia"
          },
          {
            "code" : "448251",
            "display" : "Progressive autosomal recessive ataxia-deafness syndrome"
          },
          {
            "code" : "448264",
            "display" : "Isolated focal non-epidermolytic palmoplantar keratoderma"
          },
          {
            "code" : "448267",
            "display" : "Regressive spondylometaphyseal dysplasia"
          },
          {
            "code" : "448270",
            "display" : "Ectopia cordis"
          },
          {
            "code" : "44890",
            "display" : "Gastrointestinal stromal tumor"
          },
          {
            "code" : "449",
            "display" : "Hepatoblastoma"
          },
          {
            "code" : "449266",
            "display" : "Pleural empyema"
          },
          {
            "code" : "449280",
            "display" : "Scedosporiosis"
          },
          {
            "code" : "449285",
            "display" : "Snakebite envenomation"
          },
          {
            "code" : "449291",
            "display" : "Symptomatic form of fragile X syndrome in female carriers"
          },
          {
            "code" : "449395",
            "display" : "IgG4-related kidney disease"
          },
          {
            "code" : "449400",
            "display" : "IgG4-related aortitis"
          },
          {
            "code" : "449427",
            "display" : "IgG4-related pachymeningitis"
          },
          {
            "code" : "449432",
            "display" : "IgG4-related submandibular gland disease"
          },
          {
            "code" : "449563",
            "display" : "IgG4-related ophthalmic disease"
          },
          {
            "code" : "449566",
            "display" : "Eosinophilic angiocentric fibrosis"
          },
          {
            "code" : "45",
            "display" : "Adenosine monophosphate deaminase deficiency"
          },
          {
            "code" : "450322",
            "display" : "Polyclonal hyperviscosity syndrome"
          },
          {
            "code" : "451602",
            "display" : "Primary cutaneous plasmacytosis"
          },
          {
            "code" : "451607",
            "display" : "Cutaneous pseudolymphoma"
          },
          {
            "code" : "451612",
            "display" : "Familial congenital nasolacrimal duct obstruction"
          },
          {
            "code" : "452",
            "display" : "X-linked lissencephaly with abnormal genitalia"
          },
          {
            "code" : "453499",
            "display" : "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome"
          },
          {
            "code" : "453504",
            "display" : "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation"
          },
          {
            "code" : "453510",
            "display" : "Congenital insensitivity to pain with severe intellectual disability"
          },
          {
            "code" : "453521",
            "display" : "Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency"
          },
          {
            "code" : "453533",
            "display" : "Polyendocrine-polyneuropathy syndrome"
          },
          {
            "code" : "45358",
            "display" : "Congenital fibrosis of extraocular muscles"
          },
          {
            "code" : "454",
            "display" : "Acquired ichthyosis"
          },
          {
            "code" : "45448",
            "display" : "Miyoshi myopathy"
          },
          {
            "code" : "45452",
            "display" : "Idiopathic neonatal atrial flutter"
          },
          {
            "code" : "45453",
            "display" : "Incessant infant ventricular tachycardia"
          },
          {
            "code" : "454706",
            "display" : "Progressive muscular atrophy"
          },
          {
            "code" : "454710",
            "display" : "Anti-p200 pemphigoid"
          },
          {
            "code" : "454714",
            "display" : "Plasma cell leukemia"
          },
          {
            "code" : "454718",
            "display" : "Holmes-Adie syndrome"
          },
          {
            "code" : "454723",
            "display" : "Endometrioid carcinoma of ovary"
          },
          {
            "code" : "454742",
            "display" : "Variably protease-sensitive prionopathy"
          },
          {
            "code" : "454745",
            "display" : "Kuru"
          },
          {
            "code" : "454750",
            "display" : "Isolated tracheoesophageal fistula"
          },
          {
            "code" : "454821",
            "display" : "Pleomorphic salivary gland adenoma"
          },
          {
            "code" : "454831",
            "display" : "Acute radiation syndrome"
          },
          {
            "code" : "454836",
            "display" : "Avian influenza"
          },
          {
            "code" : "454840",
            "display" : "NTHL1-related attenuated familial adenomatous polyposis"
          },
          {
            "code" : "454887",
            "display" : "Corticobasal syndrome"
          },
          {
            "code" : "455",
            "display" : "Superficial epidermolytic ichthyosis"
          },
          {
            "code" : "456298",
            "display" : "1p35.2 microdeletion syndrome"
          },
          {
            "code" : "456312",
            "display" : "Infantile multisystem neurologic-endocrine-pancreatic disease"
          },
          {
            "code" : "456318",
            "display" : "Hereditary sensory neuropathy-deafness-dementia syndrome"
          },
          {
            "code" : "456328",
            "display" : "X-linked myotubular myopathy-abnormal genitalia syndrome"
          },
          {
            "code" : "456333",
            "display" : "Hereditary neuroendocrine tumor of small intestine"
          },
          {
            "code" : "456369",
            "display" : "Polyglucosan body myopathy type 2"
          },
          {
            "code" : "457",
            "display" : "Harlequin ichthyosis"
          },
          {
            "code" : "457050",
            "display" : "Autosomal dominant mitochondrial myopathy with exercise intolerance"
          },
          {
            "code" : "457077",
            "display" : "TAFRO syndrome"
          },
          {
            "code" : "457083",
            "display" : "Isolated splenogonadal fusion"
          },
          {
            "code" : "457088",
            "display" : "Predisposition to invasive fungal disease due to CARD9 deficiency"
          },
          {
            "code" : "457095",
            "display" : "Actinomycosis"
          },
          {
            "code" : "457185",
            "display" : "Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome"
          },
          {
            "code" : "457193",
            "display" : "Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"
          },
          {
            "code" : "457205",
            "display" : "Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome"
          },
          {
            "code" : "457212",
            "display" : "Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"
          },
          {
            "code" : "457223",
            "display" : "Syndromic sensorineural deafness due to combined oxidative phosphorylation defect"
          },
          {
            "code" : "457240",
            "display" : "X-linked intellectual disability-short stature-overweight syndrome"
          },
          {
            "code" : "457246",
            "display" : "Clear cell sarcoma of kidney"
          },
          {
            "code" : "457260",
            "display" : "X-linked intellectual disability-hypotonia-movement disorder syndrome"
          },
          {
            "code" : "457265",
            "display" : "Progressive myoclonic epilepsy type 9"
          },
          {
            "code" : "457279",
            "display" : "Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome"
          },
          {
            "code" : "457284",
            "display" : "Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome"
          },
          {
            "code" : "457351",
            "display" : "Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome"
          },
          {
            "code" : "457359",
            "display" : "Megalencephaly-severe kyphoscoliosis-overgrowth syndrome"
          },
          {
            "code" : "457365",
            "display" : "Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome"
          },
          {
            "code" : "457375",
            "display" : "ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement"
          },
          {
            "code" : "457378",
            "display" : "Complex lethal osteochondrodysplasia"
          },
          {
            "code" : "457395",
            "display" : "Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome"
          },
          {
            "code" : "457406",
            "display" : "Multiple mitochondrial dysfunctions syndrome type 4"
          },
          {
            "code" : "457485",
            "display" : "Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome"
          },
          {
            "code" : "458718",
            "display" : "Idiopathic spontaneous coronary artery dissection"
          },
          {
            "code" : "458758",
            "display" : "Composite hemangioendothelioma"
          },
          {
            "code" : "458763",
            "display" : "Retiform hemangioendothelioma"
          },
          {
            "code" : "458768",
            "display" : "Primary intralymphatic angioendothelioma"
          },
          {
            "code" : "458785",
            "display" : "Partially involuting congenital hemangioma"
          },
          {
            "code" : "458792",
            "display" : "Mixed cystic lymphatic malformation"
          },
          {
            "code" : "458798",
            "display" : "Spinocerebellar ataxia type 41"
          },
          {
            "code" : "458803",
            "display" : "Spinocerebellar ataxia type 42"
          },
          {
            "code" : "459033",
            "display" : "Ataxia-oculomotor apraxia type 4"
          },
          {
            "code" : "459051",
            "display" : "Spondyloepiphyseal dysplasia, Stanescu type"
          },
          {
            "code" : "459056",
            "display" : "Autosomal recessive spastic paraplegia type 75"
          },
          {
            "code" : "459061",
            "display" : "Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome"
          },
          {
            "code" : "459070",
            "display" : "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome"
          },
          {
            "code" : "459074",
            "display" : "Corpus callosum agenesis-macrocephaly-hypertelorism syndrome"
          },
          {
            "code" : "46",
            "display" : "Adenylosuccinate lyase deficiency"
          },
          {
            "code" : "46059",
            "display" : "Lathosterolosis"
          },
          {
            "code" : "461",
            "display" : "Recessive X-linked ichthyosis"
          },
          {
            "code" : "46135",
            "display" : "Primary central nervous system lymphoma"
          },
          {
            "code" : "46348",
            "display" : "Paroxysmal extreme pain disorder"
          },
          {
            "code" : "464",
            "display" : "Incontinentia pigmenti"
          },
          {
            "code" : "464282",
            "display" : "Spastic paraplegia-severe developmental delay-epilepsy syndrome"
          },
          {
            "code" : "464288",
            "display" : "Short stature-brachydactyly-obesity-global developmental delay syndrome"
          },
          {
            "code" : "464306",
            "display" : "DYRK1A-related intellectual disability syndrome"
          },
          {
            "code" : "464311",
            "display" : "Intellectual disability syndrome due to a DYRK1A point mutation"
          },
          {
            "code" : "464318",
            "display" : "Verrucous hemangioma"
          },
          {
            "code" : "464321",
            "display" : "Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome"
          },
          {
            "code" : "464329",
            "display" : "Kaposiform lymphangiomatosis"
          },
          {
            "code" : "464336",
            "display" : "BENTA disease"
          },
          {
            "code" : "464343",
            "display" : "Catastrophic antiphospholipid syndrome"
          },
          {
            "code" : "464359",
            "display" : "Benign metanephric tumor"
          },
          {
            "code" : "464366",
            "display" : "NEK9-related lethal skeletal dysplasia"
          },
          {
            "code" : "464370",
            "display" : "Neonatal alloimmune neutropenia"
          },
          {
            "code" : "464440",
            "display" : "Primary dystonia, DYT27 type"
          },
          {
            "code" : "464443",
            "display" : "COG6-CGD"
          },
          {
            "code" : "464453",
            "display" : "Acquired methemoglobinemia"
          },
          {
            "code" : "464458",
            "display" : "Paracetamol poisoning"
          },
          {
            "code" : "464724",
            "display" : "Fever-associated acute infantile liver failure syndrome"
          },
          {
            "code" : "464738",
            "display" : "Basel-Vanagaite-Smirin-Yosef syndrome"
          },
          {
            "code" : "464756",
            "display" : "Familial gastric type 1 neuroendocrine tumor"
          },
          {
            "code" : "464760",
            "display" : "Familial cavitary optic disc anomaly"
          },
          {
            "code" : "46486",
            "display" : "Mucous membrane pemphigoid"
          },
          {
            "code" : "46487",
            "display" : "Epidermolysis bullosa acquisita"
          },
          {
            "code" : "46488",
            "display" : "Linear IgA dermatosis"
          },
          {
            "code" : "465",
            "display" : "Congenital plasminogen activator inhibitor type 1 deficiency"
          },
          {
            "code" : "46532",
            "display" : "Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome"
          },
          {
            "code" : "465508",
            "display" : "Symptomatic form of HFE-related hemochromatosis"
          },
          {
            "code" : "465824",
            "display" : "Fetal encasement syndrome"
          },
          {
            "code" : "466",
            "display" : "Fatal familial insomnia"
          },
          {
            "code" : "466026",
            "display" : "Class I glucose-6-phosphate dehydrogenase deficiency"
          },
          {
            "code" : "46627",
            "display" : "Char syndrome"
          },
          {
            "code" : "466650",
            "display" : "Exercise-induced malignant hyperthermia"
          },
          {
            "code" : "466670",
            "display" : "Cyanide poisoning"
          },
          {
            "code" : "466677",
            "display" : "Scorpion envenomation"
          },
          {
            "code" : "466682",
            "display" : "Euthyroid Graves orbitopathy"
          },
          {
            "code" : "466688",
            "display" : "Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"
          },
          {
            "code" : "466695",
            "display" : "Supratip dysplasia"
          },
          {
            "code" : "466703",
            "display" : "TMEM199-CDG"
          },
          {
            "code" : "466718",
            "display" : "Martinique crinkled retinal pigment epitheliopathy"
          },
          {
            "code" : "466722",
            "display" : "Autosomal recessive spastic paraplegia type 77"
          },
          {
            "code" : "466729",
            "display" : "Familial patent arterial duct"
          },
          {
            "code" : "466768",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2Z"
          },
          {
            "code" : "466775",
            "display" : "Autosomal recessive Charcot-Marie-Tooth disease type 2X"
          },
          {
            "code" : "466784",
            "display" : "Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect"
          },
          {
            "code" : "466791",
            "display" : "Macrocephaly-intellectual disability-left ventricular non compaction syndrome"
          },
          {
            "code" : "466794",
            "display" : "Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome"
          },
          {
            "code" : "466806",
            "display" : "Autosomal dominant thrombocytopenia with platelet secretion defect"
          },
          {
            "code" : "466921",
            "display" : "Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome"
          },
          {
            "code" : "466926",
            "display" : "Seizures-scoliosis-macrocephaly syndrome"
          },
          {
            "code" : "466934",
            "display" : "VPS11-related autosomal recessive hypomyelinating leukodystrophy"
          },
          {
            "code" : "466943",
            "display" : "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome"
          },
          {
            "code" : "466950",
            "display" : "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation"
          },
          {
            "code" : "466962",
            "display" : "SMARCA4-deficient sarcoma of thorax"
          },
          {
            "code" : "467166",
            "display" : "Tubulinopathy-associated dysgyria"
          },
          {
            "code" : "467176",
            "display" : "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"
          },
          {
            "code" : "46724",
            "display" : "Cerebral arteriovenous malformation"
          },
          {
            "code" : "468620",
            "display" : "Intellectual disability-epilepsy-extrapyramidal syndrome"
          },
          {
            "code" : "468631",
            "display" : "Microcephalic cortical malformations-short stature due to RTTN deficiency"
          },
          {
            "code" : "468635",
            "display" : "Cryptogenic multifocal ulcerous stenosing enteritis"
          },
          {
            "code" : "468641",
            "display" : "Chronic enteropathy associated with SLCO2A1 gene"
          },
          {
            "code" : "468661",
            "display" : "Autosomal recessive spastic paraplegia type 74"
          },
          {
            "code" : "468666",
            "display" : "Isolated generalized anhidrosis with normal sweat glands"
          },
          {
            "code" : "468672",
            "display" : "Colobomatous macrophthalmia-microcornea syndrome"
          },
          {
            "code" : "468678",
            "display" : "White-Sutton syndrome"
          },
          {
            "code" : "468684",
            "display" : "CCDC115-CDG"
          },
          {
            "code" : "468699",
            "display" : "SLC39A8-CDG"
          },
          {
            "code" : "468717",
            "display" : "Rhizomelic chondrodysplasia punctata type 5"
          },
          {
            "code" : "468726",
            "display" : "Severe primary trimethylaminuria"
          },
          {
            "code" : "469",
            "display" : "Hereditary fructose intolerance"
          },
          {
            "code" : "47",
            "display" : "X-linked agammaglobulinemia"
          },
          {
            "code" : "470",
            "display" : "Lysinuric protein intolerance"
          },
          {
            "code" : "47044",
            "display" : "Hereditary papillary renal cell carcinoma"
          },
          {
            "code" : "47045",
            "display" : "Familial cold urticaria"
          },
          {
            "code" : "47159",
            "display" : "Proximal renal tubular acidosis"
          },
          {
            "code" : "472",
            "display" : "Isosporiasis"
          },
          {
            "code" : "474",
            "display" : "Jeune syndrome"
          },
          {
            "code" : "475",
            "display" : "Joubert syndrome"
          },
          {
            "code" : "476084",
            "display" : "BVES-related limb-girdle muscular dystrophy"
          },
          {
            "code" : "476093",
            "display" : "Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome"
          },
          {
            "code" : "476096",
            "display" : "Erythrokeratodermia-cardiomyopathy syndrome"
          },
          {
            "code" : "476102",
            "display" : "Hereditary pediatric Behçet-like disease"
          },
          {
            "code" : "476113",
            "display" : "Combined immunodeficiency due to TFRC deficiency"
          },
          {
            "code" : "476119",
            "display" : "Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome"
          },
          {
            "code" : "47612",
            "display" : "Felty syndrome"
          },
          {
            "code" : "476126",
            "display" : "Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"
          },
          {
            "code" : "476394",
            "display" : "PMP2-related Charcot-Marie-Tooth disease type 1"
          },
          {
            "code" : "476406",
            "display" : "Congenital generalized hypercontractile muscle stiffness syndrome"
          },
          {
            "code" : "477",
            "display" : "KID syndrome"
          },
          {
            "code" : "477650",
            "display" : "Fibroblastic rheumatism"
          },
          {
            "code" : "477661",
            "display" : "IL21-related infantile inflammatory bowel disease"
          },
          {
            "code" : "477673",
            "display" : "Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome"
          },
          {
            "code" : "477684",
            "display" : "Combined oxidative phosphorylation defect type 26"
          },
          {
            "code" : "477738",
            "display" : "Pediatric multiple sclerosis"
          },
          {
            "code" : "477742",
            "display" : "Nodular fasciitis"
          },
          {
            "code" : "477749",
            "display" : "Pontine autosomal dominant microangiopathy with leukoencephalopathy"
          },
          {
            "code" : "477774",
            "display" : "Combined oxidative phosphorylation defect type 27"
          },
          {
            "code" : "477781",
            "display" : "Primary condylar hyperplasia"
          },
          {
            "code" : "477787",
            "display" : "Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder"
          },
          {
            "code" : "477814",
            "display" : "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome"
          },
          {
            "code" : "477817",
            "display" : "PMP22-RAI1 contiguous gene duplication syndrome"
          },
          {
            "code" : "477831",
            "display" : "Kosaki overgrowth syndrome"
          },
          {
            "code" : "477857",
            "display" : "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"
          },
          {
            "code" : "477993",
            "display" : "Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome"
          },
          {
            "code" : "478",
            "display" : "Kallmann syndrome"
          },
          {
            "code" : "478029",
            "display" : "Combined oxidative phosphorylation defect type 29"
          },
          {
            "code" : "478042",
            "display" : "Combined oxidative phosphorylation defect type 30"
          },
          {
            "code" : "478049",
            "display" : "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"
          },
          {
            "code" : "478664",
            "display" : "Hereditary sensory and autonomic neuropathy type 8"
          },
          {
            "code" : "48",
            "display" : "Congenital bilateral absence of vas deferens"
          },
          {
            "code" : "480",
            "display" : "Kearns-Sayre syndrome"
          },
          {
            "code" : "480476",
            "display" : "Progressive familial intrahepatic cholestasis type 5"
          },
          {
            "code" : "480483",
            "display" : "Progressive familial intrahepatic cholestasis type 4"
          },
          {
            "code" : "480491",
            "display" : "MYO5B-related progressive familial intrahepatic cholestasis"
          },
          {
            "code" : "480501",
            "display" : "Choledochal cyst"
          },
          {
            "code" : "480506",
            "display" : "Primary intrahepatic lithiasis"
          },
          {
            "code" : "480512",
            "display" : "Idiopathic ductopenia"
          },
          {
            "code" : "480520",
            "display" : "Caroli syndrome"
          },
          {
            "code" : "480524",
            "display" : "Idiopathic peliosis hepatis"
          },
          {
            "code" : "480528",
            "display" : "Lethal hydranencephaly-diaphragmatic hernia syndrome"
          },
          {
            "code" : "480531",
            "display" : "Congenital portosystemic shunt"
          },
          {
            "code" : "480536",
            "display" : "MSH3-related attenuated familial adenomatous polyposis"
          },
          {
            "code" : "480541",
            "display" : "High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement"
          },
          {
            "code" : "480553",
            "display" : "Aneurysmal bone cyst"
          },
          {
            "code" : "480556",
            "display" : "Isolated neonatal sclerosing cholangitis"
          },
          {
            "code" : "480682",
            "display" : "POGLUT1-related limb-girdle muscular dystrophy R21"
          },
          {
            "code" : "480701",
            "display" : "Facial diplegia with paresthesias"
          },
          {
            "code" : "480851",
            "display" : "Hereditary thrombocytopenia with early-onset myelofibrosis"
          },
          {
            "code" : "480864",
            "display" : "Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome"
          },
          {
            "code" : "480880",
            "display" : "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability"
          },
          {
            "code" : "480898",
            "display" : "Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome"
          },
          {
            "code" : "480907",
            "display" : "X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome"
          },
          {
            "code" : "481",
            "display" : "Kennedy disease"
          },
          {
            "code" : "48104",
            "display" : "Pyoderma gangrenosum"
          },
          {
            "code" : "481152",
            "display" : "PYCR2-related microcephaly-progressive leukoencephalopathy"
          },
          {
            "code" : "48162",
            "display" : "Lewis-Sumner syndrome"
          },
          {
            "code" : "481662",
            "display" : "Familial Chilblain lupus"
          },
          {
            "code" : "481665",
            "display" : "USP18 deficiency"
          },
          {
            "code" : "481986",
            "display" : "Familial schizencephaly"
          },
          {
            "code" : "482",
            "display" : "Kimura disease"
          },
          {
            "code" : "482077",
            "display" : "HTRA1-related autosomal dominant cerebral small vessel disease"
          },
          {
            "code" : "482601",
            "display" : "Adenylosuccinate synthetase-like 1-related distal myopathy"
          },
          {
            "code" : "482606",
            "display" : "X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome"
          },
          {
            "code" : "483",
            "display" : "Congenital high-molecular-weight kininogen deficiency"
          },
          {
            "code" : "48372",
            "display" : "Nodular regenerative hyperplasia of the liver"
          },
          {
            "code" : "48377",
            "display" : "Subcorneal pustular dermatosis"
          },
          {
            "code" : "48431",
            "display" : "Congenital cataracts-facial dysmorphism-neuropathy syndrome"
          },
          {
            "code" : "48435",
            "display" : "Postinfectious vasculitis"
          },
          {
            "code" : "485",
            "display" : "Kniest dysplasia"
          },
          {
            "code" : "485275",
            "display" : "Acquired schizencephaly"
          },
          {
            "code" : "485350",
            "display" : "CLCN4-related X-linked intellectual disability syndrome"
          },
          {
            "code" : "485358",
            "display" : "Propylthiouracil embryofetopathy"
          },
          {
            "code" : "485405",
            "display" : "16p12.1p12.3 triplication syndrome"
          },
          {
            "code" : "485418",
            "display" : "EMILIN-1-related connective tissue disease"
          },
          {
            "code" : "485421",
            "display" : "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect"
          },
          {
            "code" : "485426",
            "display" : "Isolated congenital hepatic fibrosis"
          },
          {
            "code" : "486",
            "display" : "Autosomal dominant severe congenital neutropenia"
          },
          {
            "code" : "48652",
            "display" : "Monosomy 22q13.3"
          },
          {
            "code" : "486811",
            "display" : "Prenatal-onset spinal muscular atrophy with congenital bone fractures"
          },
          {
            "code" : "486815",
            "display" : "Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome"
          },
          {
            "code" : "48686",
            "display" : "Primary effusion lymphoma"
          },
          {
            "code" : "487",
            "display" : "Krabbe disease"
          },
          {
            "code" : "48736",
            "display" : "Embryonal carcinoma of the central nervous system"
          },
          {
            "code" : "487796",
            "display" : "Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome"
          },
          {
            "code" : "487809",
            "display" : "Pediatric collagenous gastritis"
          },
          {
            "code" : "487814",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation"
          },
          {
            "code" : "487825",
            "display" : "Pierpont syndrome"
          },
          {
            "code" : "488",
            "display" : "Urachal cyst"
          },
          {
            "code" : "488168",
            "display" : "Microcephaly-congenital cataract-psoriasiform dermatitis syndrome"
          },
          {
            "code" : "48818",
            "display" : "Aceruloplasminemia"
          },
          {
            "code" : "488191",
            "display" : "Female infertility due to oocyte meiotic arrest"
          },
          {
            "code" : "488197",
            "display" : "Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome"
          },
          {
            "code" : "488232",
            "display" : "Split-foot malformation-mesoaxial polydactyly syndrome"
          },
          {
            "code" : "488239",
            "display" : "Acute macular neuroretinopathy"
          },
          {
            "code" : "488265",
            "display" : "Osteofibrous dysplasia"
          },
          {
            "code" : "488280",
            "display" : "14q32 duplication syndrome"
          },
          {
            "code" : "488333",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2W"
          },
          {
            "code" : "488434",
            "display" : "Camptodactyly syndrome, Guadalajara type 3"
          },
          {
            "code" : "488437",
            "display" : "SIX2-related frontonasal dysplasia"
          },
          {
            "code" : "488586",
            "display" : "Congenital amyoplasia"
          },
          {
            "code" : "488594",
            "display" : "Autosomal recessive spastic paraplegia type 76"
          },
          {
            "code" : "488613",
            "display" : "Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome"
          },
          {
            "code" : "488618",
            "display" : "Transketolase deficiency"
          },
          {
            "code" : "488627",
            "display" : "Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome"
          },
          {
            "code" : "488632",
            "display" : "TBCK-related intellectual disability syndrome"
          },
          {
            "code" : "488635",
            "display" : "Early-onset epilepsy-intellectual disability-brain anomalies syndrome"
          },
          {
            "code" : "488642",
            "display" : "TELO2-related intellectual disability-neurodevelopmental disorder"
          },
          {
            "code" : "488647",
            "display" : "DDX41-related hematologic malignancy predisposition syndrome"
          },
          {
            "code" : "488650",
            "display" : "Distal myopathy, Tateyama type"
          },
          {
            "code" : "48918",
            "display" : "Focal myositis"
          },
          {
            "code" : "49",
            "display" : "Penile agenesis"
          },
          {
            "code" : "490",
            "display" : "Omphalomesenteric cyst"
          },
          {
            "code" : "49041",
            "display" : "IgG4-related retroperitoneal fibrosis"
          },
          {
            "code" : "49042",
            "display" : "Dentinogenesis imperfecta"
          },
          {
            "code" : "492",
            "display" : "Proliferating trichilemmal cyst"
          },
          {
            "code" : "493",
            "display" : "Familial keratoacanthoma"
          },
          {
            "code" : "493342",
            "display" : "Vibratory urticaria"
          },
          {
            "code" : "49382",
            "display" : "Achromatopsia"
          },
          {
            "code" : "494",
            "display" : "Keratoderma hereditarium mutilans"
          },
          {
            "code" : "494344",
            "display" : "RERE-related neurodevelopmental syndrome"
          },
          {
            "code" : "494418",
            "display" : "Vulvar carcinoma"
          },
          {
            "code" : "494421",
            "display" : "Sacrococcygeal teratoma"
          },
          {
            "code" : "494424",
            "display" : "Extracranial carotid artery aneurysm"
          },
          {
            "code" : "494428",
            "display" : "Idiopathic pleuroparenchymal fibroelastosis"
          },
          {
            "code" : "494433",
            "display" : "MIRAGE syndrome"
          },
          {
            "code" : "494439",
            "display" : "Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome"
          },
          {
            "code" : "494444",
            "display" : "DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome"
          },
          {
            "code" : "494448",
            "display" : "Vulvar squamous cell carcinoma"
          },
          {
            "code" : "494451",
            "display" : "Vulvar basal cell carcinoma"
          },
          {
            "code" : "494454",
            "display" : "Vulvar adenocarcinoma"
          },
          {
            "code" : "494526",
            "display" : "Infantile-onset generalized dyskinesia with orofacial involvement"
          },
          {
            "code" : "494541",
            "display" : "Childhood-onset benign chorea with striatal involvement"
          },
          {
            "code" : "494547",
            "display" : "Squamous cell carcinoma of the hypopharynx"
          },
          {
            "code" : "494550",
            "display" : "Squamous cell carcinoma of the larynx"
          },
          {
            "code" : "495",
            "display" : "Transgrediens et progrediens palmoplantar keratoderma"
          },
          {
            "code" : "495274",
            "display" : "Charcot-Marie-Tooth disease type 2T"
          },
          {
            "code" : "49566",
            "display" : "Acquired purpura fulminans"
          },
          {
            "code" : "495818",
            "display" : "9q33.3q34.11 microdeletion syndrome"
          },
          {
            "code" : "495844",
            "display" : "C11ORF73-related autosomal recessive hypomyelinating leukodystrophy"
          },
          {
            "code" : "495875",
            "display" : "Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"
          },
          {
            "code" : "495879",
            "display" : "Congenital agenesis of the scrotum"
          },
          {
            "code" : "495930",
            "display" : "Familial monosomy 7 syndrome"
          },
          {
            "code" : "496641",
            "display" : "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"
          },
          {
            "code" : "496686",
            "display" : "Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome"
          },
          {
            "code" : "496689",
            "display" : "Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome"
          },
          {
            "code" : "496693",
            "display" : "Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome"
          },
          {
            "code" : "496751",
            "display" : "EVEN-plus syndrome"
          },
          {
            "code" : "496756",
            "display" : "Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome"
          },
          {
            "code" : "496790",
            "display" : "Ocular anomalies-axonal neuropathy-developmental delay syndrome"
          },
          {
            "code" : "497188",
            "display" : "Diffuse intrinsic pontine glioma"
          },
          {
            "code" : "497737",
            "display" : "Epidermolytic nevus"
          },
          {
            "code" : "497757",
            "display" : "MME-related autosomal dominant Charcot Marie Tooth disease type 2"
          },
          {
            "code" : "497764",
            "display" : "Spinocerebellar ataxia type 43"
          },
          {
            "code" : "497906",
            "display" : "Childhood-onset basal ganglia degeneration syndrome"
          },
          {
            "code" : "49804",
            "display" : "Lichen amyloidosis"
          },
          {
            "code" : "498228",
            "display" : "Phyllodes tumor of the prostate"
          },
          {
            "code" : "498251",
            "display" : "Menstrual cycle-dependent periodic fever"
          },
          {
            "code" : "49827",
            "display" : "Thiamine-responsive megaloblastic anemia syndrome"
          },
          {
            "code" : "498359",
            "display" : "Aquagenic palmoplantar keratoderma"
          },
          {
            "code" : "498474",
            "display" : "Hyaline fibromatosis syndrome"
          },
          {
            "code" : "498481",
            "display" : "LRP5-related primary osteoporosis"
          },
          {
            "code" : "498485",
            "display" : "Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome"
          },
          {
            "code" : "498488",
            "display" : "Overgrowth syndrome with 2q37 translocation"
          },
          {
            "code" : "498494",
            "display" : "Mirror-image polydactyly"
          },
          {
            "code" : "498497",
            "display" : "Short rib-polydactyly syndrome type 5"
          },
          {
            "code" : "498602",
            "display" : "Sugarman brachydactyly"
          },
          {
            "code" : "498693",
            "display" : "MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome"
          },
          {
            "code" : "499",
            "display" : "Kerion celsi"
          },
          {
            "code" : "499009",
            "display" : "Congenital syphilis"
          },
          {
            "code" : "499085",
            "display" : "Chronic relapsing inflammatory optic neuropathy"
          },
          {
            "code" : "499096",
            "display" : "Isolated optic neuritis"
          },
          {
            "code" : "499103",
            "display" : "Recurrent idiopathic neuroretinitis"
          },
          {
            "code" : "499107",
            "display" : "Idiopathic optic perineuritis"
          },
          {
            "code" : "499182",
            "display" : "Pilomatrix carcinoma"
          },
          {
            "code" : "5",
            "display" : "Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency"
          },
          {
            "code" : "50",
            "display" : "Aicardi syndrome"
          },
          {
            "code" : "500",
            "display" : "Noonan syndrome with multiple lentigines"
          },
          {
            "code" : "500055",
            "display" : "Hao-Fountain syndrome due to 16p13.2 microdeletion"
          },
          {
            "code" : "500062",
            "display" : "Infantile-onset periodic fever-panniculitis-dermatosis syndrome"
          },
          {
            "code" : "500095",
            "display" : "Tall stature-intellectual disability-renal anomalies syndrome"
          },
          {
            "code" : "500135",
            "display" : "Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome"
          },
          {
            "code" : "500144",
            "display" : "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome"
          },
          {
            "code" : "500150",
            "display" : "Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome"
          },
          {
            "code" : "500159",
            "display" : "Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom"
          },
          {
            "code" : "500163",
            "display" : "Witteveen-Kolk syndrome"
          },
          {
            "code" : "500166",
            "display" : "SIN3A-related intellectual disability syndrome due to a point mutation"
          },
          {
            "code" : "500180",
            "display" : "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder"
          },
          {
            "code" : "500188",
            "display" : "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"
          },
          {
            "code" : "500464",
            "display" : "Squamous cell carcinoma of the nasal cavity and paranasal sinuses"
          },
          {
            "code" : "500478",
            "display" : "Squamous cell carcinoma of the oropharynx"
          },
          {
            "code" : "500481",
            "display" : "Squamous cell carcinoma of salivary glands"
          },
          {
            "code" : "500533",
            "display" : "Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome"
          },
          {
            "code" : "500545",
            "display" : "Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract"
          },
          {
            "code" : "500548",
            "display" : "Osteosclerotic metaphyseal dysplasia"
          },
          {
            "code" : "501",
            "display" : "Lafora disease"
          },
          {
            "code" : "502",
            "display" : "Trichorhinophalangeal syndrome type 2"
          },
          {
            "code" : "502305",
            "display" : "Cochleovestibular malformation"
          },
          {
            "code" : "502318",
            "display" : "Cochlear nerve deficiency"
          },
          {
            "code" : "502363",
            "display" : "Squamous cell carcinoma of the oral cavity"
          },
          {
            "code" : "502366",
            "display" : "Squamous cell carcinoma of the lip"
          },
          {
            "code" : "502423",
            "display" : "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome"
          },
          {
            "code" : "502430",
            "display" : "Metopic ridging-ptosis-facial dysmorphism syndrome"
          },
          {
            "code" : "502434",
            "display" : "STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome"
          },
          {
            "code" : "502437",
            "display" : "4q25 proximal deletion syndrome"
          },
          {
            "code" : "502444",
            "display" : "Alkaline ceramidase 3 deficiency"
          },
          {
            "code" : "502499",
            "display" : "Erythema multiforme major"
          },
          {
            "code" : "50251",
            "display" : "Pleural mesothelioma"
          },
          {
            "code" : "503",
            "display" : "Larsen syndrome"
          },
          {
            "code" : "504",
            "display" : "Creeping myiasis"
          },
          {
            "code" : "504476",
            "display" : "Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome"
          },
          {
            "code" : "504523",
            "display" : "Severe combined immunodeficiency due to LAT deficiency"
          },
          {
            "code" : "504530",
            "display" : "Combined immunodeficiency due to Moesin deficiency"
          },
          {
            "code" : "505",
            "display" : "Graham Little-Piccardi-Lassueur syndrome"
          },
          {
            "code" : "505208",
            "display" : "3-methylglutaconic aciduria type 8"
          },
          {
            "code" : "505216",
            "display" : "3-methylglutaconic aciduria type 9"
          },
          {
            "code" : "505227",
            "display" : "Combined immunodeficiency due to GINS1 deficiency"
          },
          {
            "code" : "505237",
            "display" : "Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome"
          },
          {
            "code" : "505242",
            "display" : "Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome"
          },
          {
            "code" : "505248",
            "display" : "Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders"
          },
          {
            "code" : "505395",
            "display" : "Ventilator-induced diaphragmatic dysfunction"
          },
          {
            "code" : "505652",
            "display" : "CDKL5-deficiency disorder"
          },
          {
            "code" : "506",
            "display" : "Leigh syndrome"
          },
          {
            "code" : "506075",
            "display" : "Non-functioning neuroendocrine tumor of pancreas"
          },
          {
            "code" : "506090",
            "display" : "Serotonin-producing neuroendocrine tumor of pancreas"
          },
          {
            "code" : "506098",
            "display" : "Neuroendocrine carcinoma of pancreas"
          },
          {
            "code" : "506112",
            "display" : "Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas"
          },
          {
            "code" : "506136",
            "display" : "Neuroendocrine neoplasm of esophagus"
          },
          {
            "code" : "506307",
            "display" : "Stromme syndrome"
          },
          {
            "code" : "506334",
            "display" : "Familial steroid-resistant nephrotic syndrome with adrenal insufficiency"
          },
          {
            "code" : "506353",
            "display" : "Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction"
          },
          {
            "code" : "506358",
            "display" : "Gabriele-de Vries syndrome"
          },
          {
            "code" : "506784",
            "display" : "Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome"
          },
          {
            "code" : "507",
            "display" : "Leishmaniasis"
          },
          {
            "code" : "508",
            "display" : "Leprechaunism"
          },
          {
            "code" : "50809",
            "display" : "Talo-patello-scaphoid osteolysis"
          },
          {
            "code" : "508093",
            "display" : "MEPAN syndrome"
          },
          {
            "code" : "50810",
            "display" : "Microlissencephaly-micromelia syndrome"
          },
          {
            "code" : "50811",
            "display" : "Lipodystrophy-intellectual disability-deafness syndrome"
          },
          {
            "code" : "50812",
            "display" : "Zellweger-like syndrome without peroxisomal anomalies"
          },
          {
            "code" : "50814",
            "display" : "Craniolenticulosutural dysplasia"
          },
          {
            "code" : "50815",
            "display" : "Branchiogenic deafness syndrome"
          },
          {
            "code" : "50817",
            "display" : "Duane anomaly-myopathy-scoliosis syndrome"
          },
          {
            "code" : "50839",
            "display" : "Cat-scratch disease"
          },
          {
            "code" : "508410",
            "display" : "Familial intestinal malrotation"
          },
          {
            "code" : "508476",
            "display" : "Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome"
          },
          {
            "code" : "508488",
            "display" : "8q24.3 microdeletion syndrome"
          },
          {
            "code" : "508498",
            "display" : "Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome"
          },
          {
            "code" : "508501",
            "display" : "Oral-facial-digital syndrome with short stature and brachymesophalangy"
          },
          {
            "code" : "508512",
            "display" : "Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome"
          },
          {
            "code" : "508523",
            "display" : "Hyperphenylalaninemia due to DNAJC12 deficiency"
          },
          {
            "code" : "508529",
            "display" : "Intermediate epidermolysis bullosa simplex with cardiomyopathy"
          },
          {
            "code" : "508533",
            "display" : "Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome"
          },
          {
            "code" : "508542",
            "display" : "Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome"
          },
          {
            "code" : "509",
            "display" : "Leptospirosis"
          },
          {
            "code" : "50918",
            "display" : "Kikuchi-Fujimoto disease"
          },
          {
            "code" : "50942",
            "display" : "Striate palmoplantar keratoderma"
          },
          {
            "code" : "50943",
            "display" : "Keratolytic winter erythema"
          },
          {
            "code" : "50944",
            "display" : "Schöpf-Schulz-Passarge syndrome"
          },
          {
            "code" : "50945",
            "display" : "Blomstrand lethal chondrodysplasia"
          },
          {
            "code" : "51",
            "display" : "Aicardi-Goutières syndrome"
          },
          {
            "code" : "510",
            "display" : "Lesch-Nyhan syndrome"
          },
          {
            "code" : "51083",
            "display" : "Familial short QT syndrome"
          },
          {
            "code" : "51084",
            "display" : "Torsade-de-pointes syndrome with short coupling interval"
          },
          {
            "code" : "511",
            "display" : "Maple syrup urine disease"
          },
          {
            "code" : "51188",
            "display" : "Ethylmalonic encephalopathy"
          },
          {
            "code" : "512",
            "display" : "Metachromatic leukodystrophy"
          },
          {
            "code" : "512017",
            "display" : "Chronic lymphoproliferative disorder of natural killer cells"
          },
          {
            "code" : "51208",
            "display" : "Formiminoglutamic aciduria"
          },
          {
            "code" : "512103",
            "display" : "Autosomal recessive epidermolytic ichthyosis"
          },
          {
            "code" : "512260",
            "display" : "Congenital cerebellar ataxia due to RNU12 mutation"
          },
          {
            "code" : "513436",
            "display" : "Autosomal recessive spastic paraplegia type 78"
          },
          {
            "code" : "513456",
            "display" : "Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome"
          },
          {
            "code" : "514",
            "display" : "Acute monoblastic/monocytic leukemia"
          },
          {
            "code" : "514352",
            "display" : "Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome"
          },
          {
            "code" : "51608",
            "display" : "Generalized arterial calcification of infancy"
          },
          {
            "code" : "51636",
            "display" : "WHIM syndrome"
          },
          {
            "code" : "517",
            "display" : "Acute myelomonocytic leukemia"
          },
          {
            "code" : "518",
            "display" : "Acute megakaryoblastic leukemia"
          },
          {
            "code" : "51890",
            "display" : "Anterior cutaneous nerve entrapment syndrome"
          },
          {
            "code" : "519384",
            "display" : "Congenital cystic eye"
          },
          {
            "code" : "519386",
            "display" : "Isolated congenital entropion"
          },
          {
            "code" : "519388",
            "display" : "Autosomal recessive anterior segment dysgenesis"
          },
          {
            "code" : "519390",
            "display" : "Isolated blepharochalasis"
          },
          {
            "code" : "519392",
            "display" : "Isolated iridoschisis"
          },
          {
            "code" : "519396",
            "display" : "Isolated microspherophakia"
          },
          {
            "code" : "519398",
            "display" : "Isolated foveal hypoplasia"
          },
          {
            "code" : "519400",
            "display" : "Peripapillary staphyloma"
          },
          {
            "code" : "519402",
            "display" : "Isolated megalopapilla"
          },
          {
            "code" : "519404",
            "display" : "Optic disc pit"
          },
          {
            "code" : "519406",
            "display" : "Thygeson superficial punctate keratitis"
          },
          {
            "code" : "519408",
            "display" : "Mooren ulcer"
          },
          {
            "code" : "519410",
            "display" : "Terrien marginal degeneration"
          },
          {
            "code" : "519930",
            "display" : "Fungal keratitis"
          },
          {
            "code" : "52",
            "display" : "Alagille syndrome"
          },
          {
            "code" : "520",
            "display" : "Acute promyelocytic leukemia"
          },
          {
            "code" : "52022",
            "display" : "Potocki-Shaffer syndrome"
          },
          {
            "code" : "52047",
            "display" : "Braddock syndrome"
          },
          {
            "code" : "52054",
            "display" : "Craniosynostosis-intracranial calcifications syndrome"
          },
          {
            "code" : "52055",
            "display" : "Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"
          },
          {
            "code" : "52056",
            "display" : "Ulnar/fibula ray defect-brachydactyly syndrome"
          },
          {
            "code" : "521",
            "display" : "Chronic myeloid leukemia"
          },
          {
            "code" : "521123",
            "display" : "Radiation-induced plexopathy"
          },
          {
            "code" : "521127",
            "display" : "Osteoradionecrosis of the mandible"
          },
          {
            "code" : "521219",
            "display" : "Mirizzi syndrome"
          },
          {
            "code" : "521258",
            "display" : "Xq25 microduplication syndrome"
          },
          {
            "code" : "521305",
            "display" : "Proximal myopathy with focal depletion of mitochondria"
          },
          {
            "code" : "521308",
            "display" : "Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome"
          },
          {
            "code" : "521390",
            "display" : "Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome"
          },
          {
            "code" : "521406",
            "display" : "Dystonia-parkinsonism-hypermanganesemia syndrome"
          },
          {
            "code" : "521411",
            "display" : "Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect"
          },
          {
            "code" : "521414",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2DD"
          },
          {
            "code" : "521426",
            "display" : "PLAA-associated neurodevelopmental disorder"
          },
          {
            "code" : "521432",
            "display" : "Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome"
          },
          {
            "code" : "521438",
            "display" : "Congenital vertebral-cardiac-renal anomalies syndrome"
          },
          {
            "code" : "521445",
            "display" : "Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome"
          },
          {
            "code" : "521450",
            "display" : "LAMA5-related multisystemic syndrome"
          },
          {
            "code" : "522037",
            "display" : "Primary autoimmune enteropathy"
          },
          {
            "code" : "522077",
            "display" : "Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome"
          },
          {
            "code" : "523",
            "display" : "Hereditary leiomyomatosis and renal cell cancer"
          },
          {
            "code" : "52368",
            "display" : "Mohr-Tranebjaerg syndrome"
          },
          {
            "code" : "524",
            "display" : "Li-Fraumeni syndrome"
          },
          {
            "code" : "52416",
            "display" : "Mantle cell lymphoma"
          },
          {
            "code" : "52417",
            "display" : "MALT lymphoma"
          },
          {
            "code" : "52427",
            "display" : "Retinitis punctata albescens"
          },
          {
            "code" : "52429",
            "display" : "Branchiootic syndrome"
          },
          {
            "code" : "52430",
            "display" : "Inclusion body myopathy with Paget disease of bone and frontotemporal dementia"
          },
          {
            "code" : "525",
            "display" : "Lichen planopilaris"
          },
          {
            "code" : "52503",
            "display" : "X-linked creatine transporter deficiency"
          },
          {
            "code" : "52530",
            "display" : "Pseudo-von Willebrand disease"
          },
          {
            "code" : "525731",
            "display" : "Pediatric-onset Graves disease"
          },
          {
            "code" : "525738",
            "display" : "Prepubertal anorexia nervosa"
          },
          {
            "code" : "526",
            "display" : "Liddle syndrome"
          },
          {
            "code" : "527276",
            "display" : "Encephalopathy due to mitochondrial and peroxisomal fission defect"
          },
          {
            "code" : "527450",
            "display" : "Severe myopia-generalized joint laxity-short stature syndrome"
          },
          {
            "code" : "527468",
            "display" : "Diaphragmatic hernia-short bowel-asplenia syndrome"
          },
          {
            "code" : "527497",
            "display" : "NKX6-2-related autosomal recessive hypomyelinating leukodystrophy"
          },
          {
            "code" : "528",
            "display" : "Congenital generalized lipodystrophy"
          },
          {
            "code" : "528084",
            "display" : "Non-specific syndromic intellectual disability"
          },
          {
            "code" : "528091",
            "display" : "Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome"
          },
          {
            "code" : "528105",
            "display" : "Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome"
          },
          {
            "code" : "528623",
            "display" : "Hereditary angioedema with C1Inh deficiency"
          },
          {
            "code" : "528647",
            "display" : "Hereditary angioedema with normal C1Inh"
          },
          {
            "code" : "528663",
            "display" : "Acquired angioedema with C1Inh deficiency"
          },
          {
            "code" : "529",
            "display" : "Roch-Leri mesosomatous lipomatosis"
          },
          {
            "code" : "52901",
            "display" : "Isolated follicle stimulating hormone deficiency"
          },
          {
            "code" : "529468",
            "display" : "Monoclonal mast cell activation syndrome"
          },
          {
            "code" : "529574",
            "display" : "Duane retraction syndrome with congenital deafness"
          },
          {
            "code" : "529665",
            "display" : "Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome"
          },
          {
            "code" : "529799",
            "display" : "Acute bilirubin encephalopathy"
          },
          {
            "code" : "529808",
            "display" : "Chronic bilirubin encephalopathy"
          },
          {
            "code" : "529831",
            "display" : "Letrozole toxicity"
          },
          {
            "code" : "529852",
            "display" : "Combined hepatocellular carcinoma and cholangiocarcinoma"
          },
          {
            "code" : "529864",
            "display" : "Secondary erythromelalgia"
          },
          {
            "code" : "52994",
            "display" : "Orbital leiomyoma"
          },
          {
            "code" : "529962",
            "display" : "17q24.2 microdeletion syndrome"
          },
          {
            "code" : "529965",
            "display" : "Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome"
          },
          {
            "code" : "529970",
            "display" : "Male infertility due to acephalic spermatozoa"
          },
          {
            "code" : "529977",
            "display" : "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"
          },
          {
            "code" : "529980",
            "display" : "Inflammatory bowel disease-recurrent sinopulmonary infections syndrome"
          },
          {
            "code" : "53",
            "display" : "Albers-Schönberg osteopetrosis"
          },
          {
            "code" : "530",
            "display" : "Lipoid proteinosis"
          },
          {
            "code" : "530033",
            "display" : "Dermoid or epidermoid cyst of the central nervous system"
          },
          {
            "code" : "530298",
            "display" : "Progressive myoclonic epilepsy with neuroserpin inclusion bodies"
          },
          {
            "code" : "530303",
            "display" : "Progressive dementia with neuroserpin inclusion bodies"
          },
          {
            "code" : "53035",
            "display" : "Caroli disease"
          },
          {
            "code" : "530792",
            "display" : "RELA fusion-positive ependymoma"
          },
          {
            "code" : "530838",
            "display" : "KRT1-related diffuse nonepidermolytic keratoderma"
          },
          {
            "code" : "530849",
            "display" : "Familial apolipoprotein A5 deficiency"
          },
          {
            "code" : "530983",
            "display" : "Lamb-Shaffer syndrome"
          },
          {
            "code" : "530995",
            "display" : "Mixed phenotype acute leukemia"
          },
          {
            "code" : "531",
            "display" : "Miller-Dieker syndrome"
          },
          {
            "code" : "531151",
            "display" : "9q21.13 microdeletion syndrome"
          },
          {
            "code" : "53271",
            "display" : "Muenke syndrome"
          },
          {
            "code" : "53296",
            "display" : "Familial cutaneous collagenoma"
          },
          {
            "code" : "533",
            "display" : "Listeriosis"
          },
          {
            "code" : "53347",
            "display" : "Brody myopathy"
          },
          {
            "code" : "53351",
            "display" : "X-linked dystonia-parkinsonism"
          },
          {
            "code" : "53372",
            "display" : "Hereditary geniospasm"
          },
          {
            "code" : "534",
            "display" : "Oculocerebrorenal syndrome of Lowe"
          },
          {
            "code" : "53540",
            "display" : "Goldmann-Favre syndrome"
          },
          {
            "code" : "535453",
            "display" : "Familial lipase maturation factor 1 deficiency"
          },
          {
            "code" : "535458",
            "display" : "Familial GPIHBP1 deficiency"
          },
          {
            "code" : "53583",
            "display" : "Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity"
          },
          {
            "code" : "536",
            "display" : "Systemic lupus erythematosus"
          },
          {
            "code" : "536467",
            "display" : "B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome"
          },
          {
            "code" : "536471",
            "display" : "Spondylodysplastic Ehlers-Danlos syndrome"
          },
          {
            "code" : "536516",
            "display" : "Myopathic Ehlers-Danlos syndrome"
          },
          {
            "code" : "536532",
            "display" : "Classical-like Ehlers-Danlos syndrome type 2"
          },
          {
            "code" : "536545",
            "display" : "Kyphoscoliotic Ehlers-Danlos syndrome"
          },
          {
            "code" : "53689",
            "display" : "Congenital chloride diarrhea"
          },
          {
            "code" : "53690",
            "display" : "Congenital lactase deficiency"
          },
          {
            "code" : "53691",
            "display" : "Congenital cornea plana"
          },
          {
            "code" : "53693",
            "display" : "GRACILE syndrome"
          },
          {
            "code" : "53696",
            "display" : "Arthrogryposis-anterior horn cell disease syndrome"
          },
          {
            "code" : "53697",
            "display" : "Gnathodiaphyseal dysplasia"
          },
          {
            "code" : "53698",
            "display" : "Myosin storage myopathy"
          },
          {
            "code" : "537",
            "display" : "Toxic epidermal necrolysis"
          },
          {
            "code" : "537072",
            "display" : "PLG-related hereditary angioedema with normal C1Inh"
          },
          {
            "code" : "53715",
            "display" : "Familial tumoral calcinosis"
          },
          {
            "code" : "53719",
            "display" : "Wyburn-Mason syndrome"
          },
          {
            "code" : "53721",
            "display" : "Spinal arteriovenous metameric syndrome"
          },
          {
            "code" : "538",
            "display" : "Lymphangioleiomyomatosis"
          },
          {
            "code" : "538096",
            "display" : "Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy"
          },
          {
            "code" : "538101",
            "display" : "Congenital axonal neuropathy with encephalopathy"
          },
          {
            "code" : "538574",
            "display" : "Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome"
          },
          {
            "code" : "538756",
            "display" : "Familial multiple discoid fibromas"
          },
          {
            "code" : "538863",
            "display" : "Classic pyoderma gangrenosum"
          },
          {
            "code" : "538866",
            "display" : "Pustular pyoderma gangrenosum"
          },
          {
            "code" : "538869",
            "display" : "Bullous pyoderma gangrenosum"
          },
          {
            "code" : "538872",
            "display" : "Vegetative pyoderma gangrenosum"
          },
          {
            "code" : "538931",
            "display" : "X-linked lymphoproliferative disease due to SH2D1A deficiency"
          },
          {
            "code" : "538934",
            "display" : "X-linked lymphoproliferative disease due to XIAP deficiency"
          },
          {
            "code" : "538958",
            "display" : "Combined immunodeficiency due to CD70 deficiency"
          },
          {
            "code" : "538963",
            "display" : "Combined immunodeficiency due to ITK deficiency"
          },
          {
            "code" : "54",
            "display" : "X-linked recessive ocular albinism"
          },
          {
            "code" : "540",
            "display" : "Familial hemophagocytic lymphohistiocytosis"
          },
          {
            "code" : "54028",
            "display" : "Plummer-Vinson syndrome"
          },
          {
            "code" : "54057",
            "display" : "Thrombotic thrombocytopenic purpura"
          },
          {
            "code" : "541423",
            "display" : "Growth delay-intellectual disability-hepatopathy syndrome"
          },
          {
            "code" : "541443",
            "display" : "Anomalous aortic origin of the left coronary artery"
          },
          {
            "code" : "541454",
            "display" : "Anomalous aortic origin of the right coronary artery"
          },
          {
            "code" : "541507",
            "display" : "Anomalous origin of coronary artery from the pulmonary artery"
          },
          {
            "code" : "542301",
            "display" : "Combined immunodeficiency due to CARMIL2 deficiency"
          },
          {
            "code" : "542306",
            "display" : "GNB5-related intellectual disability-cardiac arrhythmia syndrome"
          },
          {
            "code" : "542310",
            "display" : "Leukoencephalopathy with calcifications and cysts"
          },
          {
            "code" : "542323",
            "display" : "CAR T cell therapy-associated cytokine release syndrome"
          },
          {
            "code" : "54247",
            "display" : "Posterior cortical atrophy"
          },
          {
            "code" : "54251",
            "display" : "Corticosteroid-sensitive aseptic abscess syndrome"
          },
          {
            "code" : "542568",
            "display" : "Quadricuspid aortic valve"
          },
          {
            "code" : "542585",
            "display" : "Auditory neuropathy-optic atrophy syndrome"
          },
          {
            "code" : "542592",
            "display" : "Necrobiosis lipoidica"
          },
          {
            "code" : "54260",
            "display" : "Left ventricular noncompaction"
          },
          {
            "code" : "542643",
            "display" : "Livedoid vasculopathy"
          },
          {
            "code" : "542657",
            "display" : "Isolated hyperchlorhidrosis"
          },
          {
            "code" : "54272",
            "display" : "Hepatocellular adenoma"
          },
          {
            "code" : "543",
            "display" : "Burkitt lymphoma"
          },
          {
            "code" : "543470",
            "display" : "Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"
          },
          {
            "code" : "54368",
            "display" : "Sarcocystosis"
          },
          {
            "code" : "54370",
            "display" : "Primary membranoproliferative glomerulonephritis"
          },
          {
            "code" : "544254",
            "display" : "SYNGAP1-related developmental and epileptic encephalopathy"
          },
          {
            "code" : "544469",
            "display" : "PRUNE1-related neurological syndrome"
          },
          {
            "code" : "544472",
            "display" : "Atypical hemolytic uremic syndrome with complement gene abnormality"
          },
          {
            "code" : "544482",
            "display" : "Infection-related hemolytic uremic syndrome"
          },
          {
            "code" : "544488",
            "display" : "Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome"
          },
          {
            "code" : "544493",
            "display" : "Streptococcus pneumoniae-associated hemolytic uremic syndrome"
          },
          {
            "code" : "544503",
            "display" : "RNF13-related severe early-onset epileptic encephalopathy"
          },
          {
            "code" : "544578",
            "display" : "Congenital primary megaureter, refluxing and obstructed form"
          },
          {
            "code" : "544602",
            "display" : "Congenital myopathy with reduced type 2 muscle fibers"
          },
          {
            "code" : "544628",
            "display" : "Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome"
          },
          {
            "code" : "545",
            "display" : "Follicular lymphoma"
          },
          {
            "code" : "54595",
            "display" : "Craniopharyngioma"
          },
          {
            "code" : "548",
            "display" : "Leprosy"
          },
          {
            "code" : "549",
            "display" : "Legionnaires disease"
          },
          {
            "code" : "550",
            "display" : "MELAS"
          },
          {
            "code" : "551",
            "display" : "MERRF"
          },
          {
            "code" : "552",
            "display" : "MODY"
          },
          {
            "code" : "555402",
            "display" : "NAD(P)HX dehydratase deficiency"
          },
          {
            "code" : "555407",
            "display" : "NAD(P)HX epimerase deficiency"
          },
          {
            "code" : "555434",
            "display" : "Fibrohistiocytic inflammatory pseudotumor of the liver"
          },
          {
            "code" : "555437",
            "display" : "Lymphoplasmacytic inflammatory pseudotumor of the liver"
          },
          {
            "code" : "555874",
            "display" : "Congenital tricuspid valve dysplasia"
          },
          {
            "code" : "555877",
            "display" : "FLNA-related X-linked myxomatous valvular dysplasia"
          },
          {
            "code" : "555905",
            "display" : "IgA pemphigus"
          },
          {
            "code" : "55595",
            "display" : "TNP03-related limb-girdle muscular dystrophy D2"
          },
          {
            "code" : "55596",
            "display" : "HNRNPDL-related limb-girdle muscular dystrophy D3"
          },
          {
            "code" : "556",
            "display" : "Malakoplakia"
          },
          {
            "code" : "556030",
            "display" : "Early-onset familial hypoaldosteronism"
          },
          {
            "code" : "556037",
            "display" : "Late-onset familial hypoaldosteronism"
          },
          {
            "code" : "55654",
            "display" : "Hypotrichosis simplex"
          },
          {
            "code" : "55655",
            "display" : "Pneumococcal meningitis"
          },
          {
            "code" : "556955",
            "display" : "Pancreatic agenesis-holoprosencephaly syndrome"
          },
          {
            "code" : "556985",
            "display" : "Early-onset calcifying leukoencephalopathy-skeletal dysplasia"
          },
          {
            "code" : "557003",
            "display" : "Oculoskeletodental syndrome"
          },
          {
            "code" : "557056",
            "display" : "Spastic ataxia-dysarthria due to glutaminase deficiency"
          },
          {
            "code" : "557064",
            "display" : "Neonatal epileptic encephalopathy due to glutaminase deficiency"
          },
          {
            "code" : "558",
            "display" : "Marfan syndrome"
          },
          {
            "code" : "558411",
            "display" : "Idiopathic gastroparesis"
          },
          {
            "code" : "55880",
            "display" : "Chondrosarcoma"
          },
          {
            "code" : "55881",
            "display" : "Adamantinoma"
          },
          {
            "code" : "559",
            "display" : "Marinesco-Sjögren syndrome"
          },
          {
            "code" : "56",
            "display" : "Alkaptonuria"
          },
          {
            "code" : "560",
            "display" : "Marshall syndrome"
          },
          {
            "code" : "561",
            "display" : "Marshall-Smith syndrome"
          },
          {
            "code" : "561854",
            "display" : "FOXG1 syndrome"
          },
          {
            "code" : "562",
            "display" : "McCune-Albright syndrome"
          },
          {
            "code" : "562509",
            "display" : "Heme oxygenase-1 deficiency"
          },
          {
            "code" : "562528",
            "display" : "Congenital limbs-face contractures-hypotonia-developmental delay syndrome"
          },
          {
            "code" : "562538",
            "display" : "Autosomal recessive extra-oral halitosis"
          },
          {
            "code" : "562559",
            "display" : "Anterior maxillary protrusion-strabismus-intellectual disability syndrome"
          },
          {
            "code" : "562569",
            "display" : "TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome"
          },
          {
            "code" : "562639",
            "display" : "Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome"
          },
          {
            "code" : "563",
            "display" : "Peripartum cardiomyopathy"
          },
          {
            "code" : "56304",
            "display" : "Atelosteogenesis type II"
          },
          {
            "code" : "56305",
            "display" : "Atelosteogenesis type III"
          },
          {
            "code" : "563576",
            "display" : "Autoimmune hepatitis type 1"
          },
          {
            "code" : "563581",
            "display" : "Autoimmune hepatitis type 2"
          },
          {
            "code" : "563589",
            "display" : "Seronegative autoimmune hepatitis"
          },
          {
            "code" : "563609",
            "display" : "Isolated anencephaly"
          },
          {
            "code" : "563612",
            "display" : "Isolated exencephaly"
          },
          {
            "code" : "563666",
            "display" : "Serous cystadenoma of childhood"
          },
          {
            "code" : "563671",
            "display" : "Mucinous cystadenoma of childhood"
          },
          {
            "code" : "563676",
            "display" : "Seromucinous cystadenoma of childhood"
          },
          {
            "code" : "563684",
            "display" : "Furuncular myiasis due to Dermatobia hominis"
          },
          {
            "code" : "563687",
            "display" : "Furuncular myiasis due to Cordylobia anthropophaga"
          },
          {
            "code" : "563690",
            "display" : "Furuncular myiasis due to Cordylobia rodhaini"
          },
          {
            "code" : "563708",
            "display" : "Syndromic congenital sodium diarrhea"
          },
          {
            "code" : "563951",
            "display" : "Isolated congenital aglossia"
          },
          {
            "code" : "563954",
            "display" : "Isolated congenital hypoglossia"
          },
          {
            "code" : "563991",
            "display" : "Osteochondrosis of the tarsal bone"
          },
          {
            "code" : "564",
            "display" : "Meckel syndrome"
          },
          {
            "code" : "564003",
            "display" : "Osteochondrosis of the metatarsal bone"
          },
          {
            "code" : "564178",
            "display" : "Primary hypomagnesemia-refractory seizures-intellectual disability syndrome"
          },
          {
            "code" : "56425",
            "display" : "Cold agglutinin disease"
          },
          {
            "code" : "565",
            "display" : "Menkes disease"
          },
          {
            "code" : "565612",
            "display" : "Primary triglyceride deposit cardiomyovasculopathy"
          },
          {
            "code" : "565624",
            "display" : "Combined oxidative phosphorylation defect type 39"
          },
          {
            "code" : "565641",
            "display" : "Primary desmosis coli"
          },
          {
            "code" : "565782",
            "display" : "Methotrexate toxicity"
          },
          {
            "code" : "565788",
            "display" : "Infantile inflammatory bowel disease with neurological involvement"
          },
          {
            "code" : "565837",
            "display" : "Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23"
          },
          {
            "code" : "565858",
            "display" : "Craniosynostosis-microretrognathia-severe intellectual disability syndrome"
          },
          {
            "code" : "565899",
            "display" : "POMGNT2-related limb-girdle muscular dystrophy R24"
          },
          {
            "code" : "565909",
            "display" : "Calpain-3-related limb-girdle muscular dystrophy D4"
          },
          {
            "code" : "566",
            "display" : "Congenital microcoria"
          },
          {
            "code" : "566067",
            "display" : "CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome"
          },
          {
            "code" : "566175",
            "display" : "Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome"
          },
          {
            "code" : "566192",
            "display" : "Congenital autosomal recessive small-platelet thrombocytopenia"
          },
          {
            "code" : "566231",
            "display" : "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha"
          },
          {
            "code" : "566243",
            "display" : "Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta"
          },
          {
            "code" : "566393",
            "display" : "Acute mast cell leukemia"
          },
          {
            "code" : "566396",
            "display" : "Chronic mast cell leukemia"
          },
          {
            "code" : "566841",
            "display" : "Liver adenomatosis"
          },
          {
            "code" : "566847",
            "display" : "Aprosencephaly/atelencephaly spectrum"
          },
          {
            "code" : "566852",
            "display" : "Atelencephaly"
          },
          {
            "code" : "566857",
            "display" : "Aprosencephaly"
          },
          {
            "code" : "566862",
            "display" : "Left sided atrial isomerism"
          },
          {
            "code" : "566943",
            "display" : "Mueller-Weiss syndrome"
          },
          {
            "code" : "567",
            "display" : "22q11.2 deletion syndrome"
          },
          {
            "code" : "567502",
            "display" : "B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome"
          },
          {
            "code" : "567544",
            "display" : "Idiopathic non-lupus full-house nephropathy"
          },
          {
            "code" : "567546",
            "display" : "Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance"
          },
          {
            "code" : "567548",
            "display" : "Idiopathic steroid-resistant nephrotic syndrome"
          },
          {
            "code" : "567550",
            "display" : "Idiopathic multidrug-resistant nephrotic syndrome"
          },
          {
            "code" : "567552",
            "display" : "Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy"
          },
          {
            "code" : "567983",
            "display" : "Parenteral nutrition-associated cholestasis"
          },
          {
            "code" : "568",
            "display" : "Microphthalmia, Lenz type"
          },
          {
            "code" : "568051",
            "display" : "GJC2-related late-onset primary lymphedema"
          },
          {
            "code" : "568056",
            "display" : "Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome"
          },
          {
            "code" : "568062",
            "display" : "PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis"
          },
          {
            "code" : "568065",
            "display" : "EPHB4-related lymphatic-related hydrops fetalis"
          },
          {
            "code" : "569",
            "display" : "Familial or sporadic hemiplegic migraine"
          },
          {
            "code" : "569164",
            "display" : "Angiomatoid fibrous histiocytoma"
          },
          {
            "code" : "569248",
            "display" : "Microcystic stromal tumor"
          },
          {
            "code" : "569274",
            "display" : "Multiple mitochondrial dysfunctions syndrome type 5"
          },
          {
            "code" : "569290",
            "display" : "Multiple mitochondrial dysfunctions syndrome type 6"
          },
          {
            "code" : "569816",
            "display" : "CELSR1-related late-onset primary lymphedema"
          },
          {
            "code" : "569821",
            "display" : "Congenital primary lymphedema of Gordon"
          },
          {
            "code" : "57",
            "display" : "Glycogen storage disease due to aldolase A deficiency"
          },
          {
            "code" : "570",
            "display" : "Moebius syndrome"
          },
          {
            "code" : "570371",
            "display" : "Bartter syndrome type 5"
          },
          {
            "code" : "570422",
            "display" : "Galactose mutarotase deficiency"
          },
          {
            "code" : "570431",
            "display" : "Idiopathic multicentric Castleman disease"
          },
          {
            "code" : "570438",
            "display" : "HHV-8-associated multicentric Castleman disease"
          },
          {
            "code" : "570470",
            "display" : "Ricin poisoning"
          },
          {
            "code" : "570491",
            "display" : "QRSL1-related combined oxidative phosphorylation defect"
          },
          {
            "code" : "570762",
            "display" : "Infective endocarditis"
          },
          {
            "code" : "57145",
            "display" : "SUNCT syndrome"
          },
          {
            "code" : "57196",
            "display" : "Medial condensing osteitis of the clavicle"
          },
          {
            "code" : "572",
            "display" : "Immunodeficiency by defective expression of MHC class II"
          },
          {
            "code" : "572013",
            "display" : "Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome"
          },
          {
            "code" : "572333",
            "display" : "Blepharophimosis-ptosis-epicanthus inversus syndrome plus"
          },
          {
            "code" : "572354",
            "display" : "Blepharophimosis-ptosis-epicanthus inversus syndrome type 1"
          },
          {
            "code" : "572361",
            "display" : "Blepharophimosis-ptosis-epicanthus inversus syndrome type 2"
          },
          {
            "code" : "572385",
            "display" : "Brachydactyly type B1"
          },
          {
            "code" : "572428",
            "display" : "Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia"
          },
          {
            "code" : "572543",
            "display" : "RFVT2-related riboflavin transporter deficiency"
          },
          {
            "code" : "572550",
            "display" : "RFVT3-related riboflavin transporter deficiency"
          },
          {
            "code" : "572761",
            "display" : "DONSON-related microcephaly-short stature-limb abnormalities spectrum"
          },
          {
            "code" : "572768",
            "display" : "Microcephaly-micromelia syndrome"
          },
          {
            "code" : "572773",
            "display" : "Microcephaly-short stature-limb abnormalities syndrome"
          },
          {
            "code" : "572798",
            "display" : "WARS2-related combined oxidative phosphorylation defect"
          },
          {
            "code" : "573",
            "display" : "Monilethrix"
          },
          {
            "code" : "573253",
            "display" : "Split cord malformation type II"
          },
          {
            "code" : "574",
            "display" : "21q deletion syndrome"
          },
          {
            "code" : "574918",
            "display" : "Predisposition to severe viral infection due to IRF7 deficiency"
          },
          {
            "code" : "574957",
            "display" : "Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency"
          },
          {
            "code" : "575",
            "display" : "Muckle-Wells syndrome"
          },
          {
            "code" : "575553",
            "display" : "Cathepsin A-related arteriopathy-strokes-leukoencephalopathy"
          },
          {
            "code" : "576",
            "display" : "Mucolipidosis type II"
          },
          {
            "code" : "576074",
            "display" : "Middle East respiratory syndrome"
          },
          {
            "code" : "576227",
            "display" : "Complete atrioventricular septal defect without ventricular hypoplasia"
          },
          {
            "code" : "576232",
            "display" : "Partial atrioventricular septal defect with ventricular hypoplasia"
          },
          {
            "code" : "576235",
            "display" : "Partial atrioventricular septal defect without ventricular hypoplasia"
          },
          {
            "code" : "576242",
            "display" : "Intermediate atrioventricular septal defect"
          },
          {
            "code" : "576278",
            "display" : "SATB2-associated syndrome"
          },
          {
            "code" : "576283",
            "display" : "SATB2-associated syndrome due to a pathogenic variant"
          },
          {
            "code" : "576349",
            "display" : "NLRC4-related familial cold autoinflammatory syndrome"
          },
          {
            "code" : "576370",
            "display" : "Variant Creutzfeldt-Jakob disease"
          },
          {
            "code" : "576379",
            "display" : "Iatrogenic Creutzfeldt-Jakob disease"
          },
          {
            "code" : "577",
            "display" : "Mucolipidosis type III"
          },
          {
            "code" : "57777",
            "display" : "Cirrhotic cardiomyopathy"
          },
          {
            "code" : "57782",
            "display" : "Mazabraud syndrome"
          },
          {
            "code" : "578",
            "display" : "Mucolipidosis type IV"
          },
          {
            "code" : "579",
            "display" : "Mucopolysaccharidosis type 1"
          },
          {
            "code" : "58",
            "display" : "Alexander disease"
          },
          {
            "code" : "580",
            "display" : "Mucopolysaccharidosis type 2"
          },
          {
            "code" : "58017",
            "display" : "Classic hairy cell leukemia"
          },
          {
            "code" : "58040",
            "display" : "Osteoblastoma"
          },
          {
            "code" : "580572",
            "display" : "Intraductal tubulopapillary neoplasm of pancreas"
          },
          {
            "code" : "580933",
            "display" : "Lethal brain and heart developmental defects"
          },
          {
            "code" : "580940",
            "display" : "QRICH1-related intellectual disability-chondrodysplasia syndrome"
          },
          {
            "code" : "580951",
            "display" : "Punctate inner choroidopathy"
          },
          {
            "code" : "581",
            "display" : "Mucopolysaccharidosis type 3"
          },
          {
            "code" : "581271",
            "display" : "Cramp-fasciculation syndrome"
          },
          {
            "code" : "582",
            "display" : "Mucopolysaccharidosis type 4"
          },
          {
            "code" : "583",
            "display" : "Mucopolysaccharidosis type 6"
          },
          {
            "code" : "583097",
            "display" : "Congenital infiltrating lipomatosis of the face"
          },
          {
            "code" : "583595",
            "display" : "Serine biosynthesis pathway deficiency, infantile/juvenile form"
          },
          {
            "code" : "583602",
            "display" : "Neu-laxova syndrome due to phosphoserine aminotransferase deficiency"
          },
          {
            "code" : "583607",
            "display" : "Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency"
          },
          {
            "code" : "583612",
            "display" : "Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency"
          },
          {
            "code" : "583856",
            "display" : "Isolated splenic vein thrombosis"
          },
          {
            "code" : "583861",
            "display" : "Isolated mesenteric vein thrombosis"
          },
          {
            "code" : "584",
            "display" : "Mucopolysaccharidosis type 7"
          },
          {
            "code" : "585",
            "display" : "Multiple sulfatase deficiency"
          },
          {
            "code" : "585867",
            "display" : "Acute myeloid leukemia with t(9;22)(q34.1;q11.2)"
          },
          {
            "code" : "585877",
            "display" : "B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality"
          },
          {
            "code" : "585909",
            "display" : "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)"
          },
          {
            "code" : "585918",
            "display" : "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)"
          },
          {
            "code" : "585929",
            "display" : "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)"
          },
          {
            "code" : "585936",
            "display" : "B-lymphoblastic leukemia/lymphoma with hyperdiploidy"
          },
          {
            "code" : "585942",
            "display" : "B-lymphoblastic leukemia/lymphoma with hypodiploidy"
          },
          {
            "code" : "585948",
            "display" : "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)"
          },
          {
            "code" : "585956",
            "display" : "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)"
          },
          {
            "code" : "586",
            "display" : "Cystic fibrosis"
          },
          {
            "code" : "586130",
            "display" : "Sporadic fatal insomnia"
          },
          {
            "code" : "587",
            "display" : "Muir-Torre syndrome"
          },
          {
            "code" : "588",
            "display" : "Muscle-eye-brain disease"
          },
          {
            "code" : "589",
            "display" : "Myasthenia gravis"
          },
          {
            "code" : "589435",
            "display" : "Spondylometaphyseal dysplasia-corneal dystrophy syndrome"
          },
          {
            "code" : "589442",
            "display" : "Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome"
          },
          {
            "code" : "589515",
            "display" : "PUM1-associated developmental disability-ataxia-seizure syndrome"
          },
          {
            "code" : "589522",
            "display" : "Spinocerebellar ataxia type 46"
          },
          {
            "code" : "589527",
            "display" : "Spinocerebellar ataxia type 45"
          },
          {
            "code" : "589534",
            "display" : "Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)"
          },
          {
            "code" : "589542",
            "display" : "Myeloid/lymphoid neoplasm associated with JAK2 rearrangement"
          },
          {
            "code" : "589547",
            "display" : "GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder"
          },
          {
            "code" : "589595",
            "display" : "Mixed phenotype acute leukemia with t(v;11q23.3)"
          },
          {
            "code" : "589608",
            "display" : "Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies"
          },
          {
            "code" : "589618",
            "display" : "Dystonia 28"
          },
          {
            "code" : "589821",
            "display" : "Congenital-onset Steinert myotonic dystrophy"
          },
          {
            "code" : "589824",
            "display" : "Childhood-onset Steinert myotonic dystrophy"
          },
          {
            "code" : "589827",
            "display" : "Juvenile-onset Steinert myotonic dystrophy"
          },
          {
            "code" : "589830",
            "display" : "Adult-onset Steinert myotonic dystrophy"
          },
          {
            "code" : "589833",
            "display" : "Late-onset Steinert myotonic dystrophy"
          },
          {
            "code" : "589856",
            "display" : "Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"
          },
          {
            "code" : "589905",
            "display" : "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome"
          },
          {
            "code" : "59",
            "display" : "Allan-Herndon-Dudley syndrome"
          },
          {
            "code" : "590",
            "display" : "Congenital myasthenic syndrome"
          },
          {
            "code" : "590539",
            "display" : "Isolated melanotic schwannoma"
          },
          {
            "code" : "591",
            "display" : "Furuncular myiasis"
          },
          {
            "code" : "59135",
            "display" : "Laing early-onset distal myopathy"
          },
          {
            "code" : "59181",
            "display" : "Sorsby pseudoinflammatory fundus dystrophy"
          },
          {
            "code" : "592",
            "display" : "Macrophagic myofasciitis"
          },
          {
            "code" : "592564",
            "display" : "GNAO1-related developmental delay-seizures-movement disorder spectrum"
          },
          {
            "code" : "592570",
            "display" : "TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome"
          },
          {
            "code" : "592574",
            "display" : "Menke-Hennekam syndrome"
          },
          {
            "code" : "592850",
            "display" : "Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies"
          },
          {
            "code" : "592856",
            "display" : "Neuromyelitis optica spectrum disorder with anti-MOG antibodies"
          },
          {
            "code" : "592869",
            "display" : "Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies"
          },
          {
            "code" : "592873",
            "display" : "Acute transverse myelitis with anti-MOG antibodies"
          },
          {
            "code" : "592885",
            "display" : "Isolated optic neuritis without anti-MOG antibodies"
          },
          {
            "code" : "592888",
            "display" : "Isolated optic neuritis with anti-MOG antibodies"
          },
          {
            "code" : "592894",
            "display" : "Acute disseminated encephalomyelitis with anti-MOG antibodies"
          },
          {
            "code" : "592900",
            "display" : "Acute disseminated encephalomyelitis without anti-MOG antibodies"
          },
          {
            "code" : "59298",
            "display" : "Schilder disease"
          },
          {
            "code" : "59303",
            "display" : "Neonatal ichthyosis-sclerosing cholangitis syndrome"
          },
          {
            "code" : "59306",
            "display" : "McLeod neuroacanthocytosis syndrome"
          },
          {
            "code" : "59315",
            "display" : "Rhombencephalosynapsis"
          },
          {
            "code" : "595098",
            "display" : "Timothy syndrome type 1"
          },
          {
            "code" : "595105",
            "display" : "Timothy syndrome type 2"
          },
          {
            "code" : "595109",
            "display" : "Atypical Timothy syndrome"
          },
          {
            "code" : "595133",
            "display" : "Perivascular epithelioid cell neoplasm"
          },
          {
            "code" : "595356",
            "display" : "Localized dystrophic epidermolysis bullosa"
          },
          {
            "code" : "596",
            "display" : "X-linked centronuclear myopathy"
          },
          {
            "code" : "596008",
            "display" : "Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis"
          },
          {
            "code" : "596448",
            "display" : "IgG4-related systemic disease"
          },
          {
            "code" : "596753",
            "display" : "VEXAS syndrome"
          },
          {
            "code" : "596759",
            "display" : "Combined immunodeficiency due to RELA haploinsufficiency"
          },
          {
            "code" : "596937",
            "display" : "Portosinusoidal vascular disease"
          },
          {
            "code" : "596941",
            "display" : "Incomplete septal cirrhosis"
          },
          {
            "code" : "597",
            "display" : "Central core disease"
          },
          {
            "code" : "597201",
            "display" : "TRIM22-related inflammatory bowel disease"
          },
          {
            "code" : "597623",
            "display" : "IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome"
          },
          {
            "code" : "597733",
            "display" : "Oculocutaneous albinism type 8"
          },
          {
            "code" : "597738",
            "display" : "Luscan-Lumish syndrome"
          },
          {
            "code" : "597743",
            "display" : "SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome"
          },
          {
            "code" : "597746",
            "display" : "Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome"
          },
          {
            "code" : "597874",
            "display" : "MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome"
          },
          {
            "code" : "597887",
            "display" : "ALPI-related inflammatory bowel disease"
          },
          {
            "code" : "597939",
            "display" : "Euthyroid dysprealbuminemic hyperthyroxinemia"
          },
          {
            "code" : "598",
            "display" : "Multiminicore myopathy"
          },
          {
            "code" : "598164",
            "display" : "FOXG1 syndrome due to intragenic alteration"
          },
          {
            "code" : "598216",
            "display" : "Upper tract urothelial carcinoma"
          },
          {
            "code" : "598363",
            "display" : "Multisystem inflammatory syndrome in children and adults"
          },
          {
            "code" : "598603",
            "display" : "Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome"
          },
          {
            "code" : "599082",
            "display" : "CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome"
          },
          {
            "code" : "599373",
            "display" : "STXBP1-related encephalopathy"
          },
          {
            "code" : "599376",
            "display" : "Hypomyelination of early myelinating structures"
          },
          {
            "code" : "599418",
            "display" : "Hereditary angioedema with normal C1Inh not related to F12 or PLG variant"
          },
          {
            "code" : "599480",
            "display" : "Acquired hemophilia A"
          },
          {
            "code" : "599485",
            "display" : "Acquired hemophilia B"
          },
          {
            "code" : "599490",
            "display" : "Acquired factor V deficiency"
          },
          {
            "code" : "599495",
            "display" : "Acquired factor VII deficiency"
          },
          {
            "code" : "599501",
            "display" : "Acquired factor X deficiency"
          },
          {
            "code" : "599507",
            "display" : "Acquired factor XI deficiency"
          },
          {
            "code" : "599513",
            "display" : "Acquired factor XIII deficiency"
          },
          {
            "code" : "599519",
            "display" : "Factor V short isoforms-related bleeding disorder"
          },
          {
            "code" : "599579",
            "display" : "Factor V Amsterdam bleeding disorder"
          },
          {
            "code" : "6",
            "display" : "3-methylcrotonyl-CoA carboxylase deficiency"
          },
          {
            "code" : "60",
            "display" : "Alpha-1-antitrypsin deficiency"
          },
          {
            "code" : "600",
            "display" : "Vocal cord and pharyngeal distal myopathy"
          },
          {
            "code" : "60014",
            "display" : "Argyria"
          },
          {
            "code" : "60015",
            "display" : "Enlarged parietal foramina"
          },
          {
            "code" : "600194",
            "display" : "Factor V Atlanta bleeding disorder"
          },
          {
            "code" : "60025",
            "display" : "Pulmonary alveolar microlithiasis"
          },
          {
            "code" : "60026",
            "display" : "Pulmonary nodular lymphoid hyperplasia"
          },
          {
            "code" : "60030",
            "display" : "Loeys-Dietz syndrome"
          },
          {
            "code" : "60032",
            "display" : "Recurrent respiratory papillomatosis"
          },
          {
            "code" : "60033",
            "display" : "Idiopathic bronchiectasis"
          },
          {
            "code" : "60039",
            "display" : "Pudendal neuralgia"
          },
          {
            "code" : "60040",
            "display" : "Megalencephaly-capillary malformation-polymicrogyria syndrome"
          },
          {
            "code" : "60041",
            "display" : "Congenital heart block"
          },
          {
            "code" : "600663",
            "display" : "NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance"
          },
          {
            "code" : "600668",
            "display" : "CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome"
          },
          {
            "code" : "600691",
            "display" : "Combined deficiency of factor VII and factor X"
          },
          {
            "code" : "600731",
            "display" : "Clark-Baraitser syndrome"
          },
          {
            "code" : "600952",
            "display" : "Non-syndromic anorectal malformation with perineal fistula"
          },
          {
            "code" : "600961",
            "display" : "Non-syndromic anorectal malformation with rectourethral fistula"
          },
          {
            "code" : "600966",
            "display" : "Non-syndromic anorectal malformation with rectourethral fistula, bulbar type"
          },
          {
            "code" : "600975",
            "display" : "Non-syndromic anorectal malformation with rectourethral fistula, prostatic type"
          },
          {
            "code" : "600984",
            "display" : "Non-syndromic anorectal malformation with rectovesical fistula"
          },
          {
            "code" : "600993",
            "display" : "Non-syndromic anorectal malformation with vestibular fistula"
          },
          {
            "code" : "600998",
            "display" : "Non-syndromic cloacal malformation"
          },
          {
            "code" : "601002",
            "display" : "Non-syndromic anorectal malformation without fistula"
          },
          {
            "code" : "601008",
            "display" : "Non-syndromic anorectal malformation with anal stenosis"
          },
          {
            "code" : "601013",
            "display" : "Non-syndromic anorectal malformation with pouch colon"
          },
          {
            "code" : "601018",
            "display" : "Non-syndromic anorectal malformation with rectal atresia"
          },
          {
            "code" : "601023",
            "display" : "Non-syndromic anorectal malformation with rectal stenosis"
          },
          {
            "code" : "601028",
            "display" : "Non-syndromic anorectal malformation with rectovaginal fistula"
          },
          {
            "code" : "601033",
            "display" : "Non-syndromic anorectal malformation with H-type fistula"
          },
          {
            "code" : "602",
            "display" : "GNE myopathy"
          },
          {
            "code" : "603",
            "display" : "Distal myopathy, Welander type"
          },
          {
            "code" : "603448",
            "display" : "Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome"
          },
          {
            "code" : "603494",
            "display" : "Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome"
          },
          {
            "code" : "603515",
            "display" : "Isolated female hypospadias"
          },
          {
            "code" : "603684",
            "display" : "KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome"
          },
          {
            "code" : "603689",
            "display" : "KLHL7-related Bohring-Opitz-like syndrome"
          },
          {
            "code" : "603694",
            "display" : "KLHL7-related Crisponi/cold-induced sweating-like syndrome"
          },
          {
            "code" : "604680",
            "display" : "Symptomatic form of X-linked centronuclear myopathy in female carriers"
          },
          {
            "code" : "606",
            "display" : "Proximal myotonic myopathy"
          },
          {
            "code" : "609",
            "display" : "Tibial muscular dystrophy"
          },
          {
            "code" : "61",
            "display" : "Alpha-mannosidosis"
          },
          {
            "code" : "610",
            "display" : "Bethlem myopathy"
          },
          {
            "code" : "610569",
            "display" : "KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome"
          },
          {
            "code" : "610573",
            "display" : "CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome"
          },
          {
            "code" : "611",
            "display" : "Inclusion body myositis"
          },
          {
            "code" : "611201",
            "display" : "Oculogastrointestinal-neurodevelopmental syndrome"
          },
          {
            "code" : "611207",
            "display" : "Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome"
          },
          {
            "code" : "611216",
            "display" : "Aplastic anemia-intellectual disability-dwarfism syndrome"
          },
          {
            "code" : "611223",
            "display" : "EN1-related dorsoventral syndrome"
          },
          {
            "code" : "611237",
            "display" : "Parkinsonism with polyneuropathy"
          },
          {
            "code" : "611247",
            "display" : "Pontocerebellar hypoplasia type 11"
          },
          {
            "code" : "611256",
            "display" : "Pontocerebellar hypoplasia type 12"
          },
          {
            "code" : "613267",
            "display" : "Pontocerebellar hypoplasia type 13"
          },
          {
            "code" : "613274",
            "display" : "Pontocerebellar hypoplasia type 14"
          },
          {
            "code" : "614",
            "display" : "Thomsen and Becker disease"
          },
          {
            "code" : "615",
            "display" : "Familial atrial myxoma"
          },
          {
            "code" : "615938",
            "display" : "Spastic paraparesis-cataracts-speech delay syndrome"
          },
          {
            "code" : "615943",
            "display" : "Granuloma faciale"
          },
          {
            "code" : "615954",
            "display" : "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome"
          },
          {
            "code" : "615964",
            "display" : "Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate"
          },
          {
            "code" : "615970",
            "display" : "Chronic intervillositis of unknown etiology"
          },
          {
            "code" : "615983",
            "display" : "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation"
          },
          {
            "code" : "615986",
            "display" : "Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster"
          },
          {
            "code" : "616",
            "display" : "Medulloblastoma"
          },
          {
            "code" : "616874",
            "display" : "Rare disorder without a determined diagnosis after full investigation"
          },
          {
            "code" : "617",
            "display" : "Congenital primary megaureter"
          },
          {
            "code" : "617294",
            "display" : "Twin anemia-polycythemia sequence"
          },
          {
            "code" : "617297",
            "display" : "Twin-reversed arterial perfusion sequence"
          },
          {
            "code" : "617301",
            "display" : "Selective intrauterine growth restriction"
          },
          {
            "code" : "617304",
            "display" : "Amniotic fluid embolism"
          },
          {
            "code" : "617408",
            "display" : "Classic eosinophilic pustular folliculitis"
          },
          {
            "code" : "617440",
            "display" : "Painful legs and moving toes syndrome"
          },
          {
            "code" : "617449",
            "display" : "Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome"
          },
          {
            "code" : "617910",
            "display" : "Conjunctival malignant melanoma"
          },
          {
            "code" : "617916",
            "display" : "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia"
          },
          {
            "code" : "617919",
            "display" : "F12-associated cold autoinflammatory syndrome"
          },
          {
            "code" : "617930",
            "display" : "Hemophilia B Leyden"
          },
          {
            "code" : "618",
            "display" : "Familial melanoma"
          },
          {
            "code" : "618891",
            "display" : "Chronic neurovisceral acid sphingomyelinase deficiency"
          },
          {
            "code" : "619233",
            "display" : "Hereditary persistence of fetal hemoglobin-intellectual disability syndrome"
          },
          {
            "code" : "619363",
            "display" : "Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18"
          },
          {
            "code" : "619367",
            "display" : "SAMD9L-associated autoinflammatory syndrome"
          },
          {
            "code" : "619941",
            "display" : "Immune deficiency due to impaired neutrophil phagocytosis and migration"
          },
          {
            "code" : "619948",
            "display" : "Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome"
          },
          {
            "code" : "619953",
            "display" : "Familial hyperinflammatory lymphoproliferative immunodeficiency"
          },
          {
            "code" : "619972",
            "display" : "CADINS disease"
          },
          {
            "code" : "619979",
            "display" : "Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome"
          },
          {
            "code" : "62",
            "display" : "Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3"
          },
          {
            "code" : "620102",
            "display" : "Non-syndromic unicoronal craniosynostosis"
          },
          {
            "code" : "620113",
            "display" : "Non-syndromic unilambdoid craniosynostosis"
          },
          {
            "code" : "620139",
            "display" : "Non-syndromic unifrontosphenoidal craniosynostosis"
          },
          {
            "code" : "620146",
            "display" : "Non-syndromic unisquamosal craniosynostosis"
          },
          {
            "code" : "620158",
            "display" : "Non-syndromic non-specific multisutural craniosynostosis"
          },
          {
            "code" : "620178",
            "display" : "Non-syndromic bilambdoid craniosynostosis"
          },
          {
            "code" : "620186",
            "display" : "Non-syndromic unicoronal and sagittal craniosynostosis"
          },
          {
            "code" : "620192",
            "display" : "Non-syndromic metopic and sagittal craniosynostosis"
          },
          {
            "code" : "620198",
            "display" : "Non-syndromic bicoronal and metopic craniosynostosis"
          },
          {
            "code" : "620205",
            "display" : "Non-syndromic bicoronal and sagittal craniosynostosis"
          },
          {
            "code" : "620212",
            "display" : "Non-syndromic pansynostosis"
          },
          {
            "code" : "620217",
            "display" : "Bartter syndrome type 1"
          },
          {
            "code" : "620220",
            "display" : "Bartter syndrome type 2"
          },
          {
            "code" : "620363",
            "display" : "Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome"
          },
          {
            "code" : "620368",
            "display" : "EGF-related primary hypomagnesemia with intellectual disability"
          },
          {
            "code" : "620371",
            "display" : "Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation"
          },
          {
            "code" : "621",
            "display" : "Hereditary methemoglobinemia"
          },
          {
            "code" : "621758",
            "display" : "Fibrosis-neurodegeneration-cerebral angiomatosis syndrome"
          },
          {
            "code" : "622",
            "display" : "Homocystinuria without methylmalonic aciduria"
          },
          {
            "code" : "622099",
            "display" : "Superior mesenteric artery syndrome"
          },
          {
            "code" : "622925",
            "display" : "X-linked severe syndromic thoracic aortic aneurysm and dissection"
          },
          {
            "code" : "622934",
            "display" : "SBDS-related severe neonatal spondylometaphyseal dysplasia"
          },
          {
            "code" : "623615",
            "display" : "Autoimmune limbic encephalitis"
          },
          {
            "code" : "623626",
            "display" : "Paraneoplastic cerebellar degeneration"
          },
          {
            "code" : "623695",
            "display" : "MIR140-related spondyloepiphyseal dysplasia"
          },
          {
            "code" : "623789",
            "display" : "Body integrity dysphoria"
          },
          {
            "code" : "623801",
            "display" : "Acute flaccid myelitis"
          },
          {
            "code" : "624",
            "display" : "Familial multiple nevi flammei"
          },
          {
            "code" : "624166",
            "display" : "Non-specific autoimmune supratentorial encephalitis with characteristic antibodies"
          },
          {
            "code" : "624178",
            "display" : "Non-specific autoimmune supratentorial encephalitis without characteristic antibodies"
          },
          {
            "code" : "624190",
            "display" : "Paraneoplastic isolated brainstem encephalitis"
          },
          {
            "code" : "624199",
            "display" : "Non-specific autoimmune brainstem encephalitis with characteristic antibodies"
          },
          {
            "code" : "624216",
            "display" : "Non-specific autoimmune brainstem encephalitis without characteristic antibodies"
          },
          {
            "code" : "624244",
            "display" : "Postinfectious cerebellitis"
          },
          {
            "code" : "624259",
            "display" : "Non-specific autoimmune cerebellar ataxia with characteristic antibodies"
          },
          {
            "code" : "624268",
            "display" : "Non-specific autoimmune cerebellar ataxia without characteristic antibodies"
          },
          {
            "code" : "626",
            "display" : "Large congenital melanocytic nevus"
          },
          {
            "code" : "627",
            "display" : "Nance-Horan syndrome"
          },
          {
            "code" : "628",
            "display" : "Diastrophic dysplasia"
          },
          {
            "code" : "629",
            "display" : "Short stature due to growth hormone qualitative anomaly"
          },
          {
            "code" : "63",
            "display" : "Alport syndrome"
          },
          {
            "code" : "631",
            "display" : "Non-acquired isolated growth hormone deficiency"
          },
          {
            "code" : "631068",
            "display" : "Autosomal dominant spastic paraplegia type 80"
          },
          {
            "code" : "631073",
            "display" : "Autosomal recessive spastic paraplegia type 82"
          },
          {
            "code" : "631076",
            "display" : "Autosomal recessive spastic paraplegia type 83"
          },
          {
            "code" : "631079",
            "display" : "Autosomal recessive spastic paraplegia type 84"
          },
          {
            "code" : "631082",
            "display" : "Autosomal recessive spastic paraplegia type 85"
          },
          {
            "code" : "631085",
            "display" : "Autosomal recessive spastic paraplegia type 86"
          },
          {
            "code" : "631088",
            "display" : "Autosomal recessive spastic paraplegia type 87"
          },
          {
            "code" : "631095",
            "display" : "Spinocerebellar ataxia type 44"
          },
          {
            "code" : "631103",
            "display" : "Spinocerebellar ataxia type 48"
          },
          {
            "code" : "631106",
            "display" : "Spinocerebellar ataxia type 49"
          },
          {
            "code" : "631248",
            "display" : "Mitchell Syndrome"
          },
          {
            "code" : "631251",
            "display" : "Cancer of unknown primary site"
          },
          {
            "code" : "632",
            "display" : "Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia"
          },
          {
            "code" : "63259",
            "display" : "Iniencephaly"
          },
          {
            "code" : "63260",
            "display" : "Craniorachischisis"
          },
          {
            "code" : "632603",
            "display" : "Mesomelic dysplasia-digital anomalies-intellectual disability syndrome"
          },
          {
            "code" : "63269",
            "display" : "Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis"
          },
          {
            "code" : "63273",
            "display" : "Distal myopathy with posterior leg and anterior hand involvement"
          },
          {
            "code" : "63275",
            "display" : "Pemphigoid gestationis"
          },
          {
            "code" : "633",
            "display" : "Laron syndrome"
          },
          {
            "code" : "633004",
            "display" : "KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome"
          },
          {
            "code" : "633014",
            "display" : "SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome"
          },
          {
            "code" : "633021",
            "display" : "SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome"
          },
          {
            "code" : "633024",
            "display" : "SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome"
          },
          {
            "code" : "633028",
            "display" : "CPE-related Prader-Willi-like syndrome"
          },
          {
            "code" : "633035",
            "display" : "Intellectual disability-early-onset cataract-microcephaly syndrome"
          },
          {
            "code" : "633076",
            "display" : "Split cord malformation, composite type"
          },
          {
            "code" : "633099",
            "display" : "PAICS deficiency"
          },
          {
            "code" : "633124",
            "display" : "Invasive scopulariopsis infection"
          },
          {
            "code" : "633211",
            "display" : "Preaxial digit brachydactyly-webbed fingers"
          },
          {
            "code" : "633228",
            "display" : "Proximal femoral focal deficiency"
          },
          {
            "code" : "634",
            "display" : "Netherton syndrome"
          },
          {
            "code" : "63442",
            "display" : "Angel-shaped phalango-epiphyseal dysplasia"
          },
          {
            "code" : "63446",
            "display" : "Acrocapitofemoral dysplasia"
          },
          {
            "code" : "634461",
            "display" : "Mosaic neurofibromatosis type 1"
          },
          {
            "code" : "634475",
            "display" : "Mosaic NF2-related schwannomatosis"
          },
          {
            "code" : "634492",
            "display" : "Mosaic schwannomatosis"
          },
          {
            "code" : "634511",
            "display" : "Mosaic Legius syndrome"
          },
          {
            "code" : "63455",
            "display" : "Paraneoplastic pemphigus"
          },
          {
            "code" : "635",
            "display" : "Neuroblastoma"
          },
          {
            "code" : "636",
            "display" : "Neurofibromatosis type 1"
          },
          {
            "code" : "636941",
            "display" : "Vascular Ehlers-Danlos-polymicrogyria syndrome"
          },
          {
            "code" : "636945",
            "display" : "Invasive Candidiasis"
          },
          {
            "code" : "636950",
            "display" : "Glaucomatocyclitic crisis disease"
          },
          {
            "code" : "636955",
            "display" : "Endemic pemphigus foliaceus"
          },
          {
            "code" : "636965",
            "display" : "Autosomal dominant myosin storage myopathy"
          },
          {
            "code" : "636970",
            "display" : "Autosomal recessive myosin storage myopathy"
          },
          {
            "code" : "637",
            "display" : "Full NF2-related schwannomatosis"
          },
          {
            "code" : "637013",
            "display" : "SMARCA2-related blepharophimosis-intellectual disability syndrome"
          },
          {
            "code" : "637051",
            "display" : "Borna virus encephalitis"
          },
          {
            "code" : "637061",
            "display" : "Isolated optic nerve hypoplasia"
          },
          {
            "code" : "637064",
            "display" : "Isolated optic nerve aplasia"
          },
          {
            "code" : "638",
            "display" : "Neurofibromatosis-Noonan syndrome"
          },
          {
            "code" : "63862",
            "display" : "Schisis association"
          },
          {
            "code" : "639",
            "display" : "Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG"
          },
          {
            "code" : "63999",
            "display" : "IgG4-related mediastinitis"
          },
          {
            "code" : "64",
            "display" : "Alström syndrome"
          },
          {
            "code" : "640",
            "display" : "Hereditary neuropathy with liability to pressure palsies"
          },
          {
            "code" : "641",
            "display" : "Multifocal motor neuropathy"
          },
          {
            "code" : "641350",
            "display" : "Immunotherapy induced hypophysitis"
          },
          {
            "code" : "641353",
            "display" : "Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome"
          },
          {
            "code" : "641361",
            "display" : "Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome"
          },
          {
            "code" : "641368",
            "display" : "Autosomal recessive hyper-IgE syndrome"
          },
          {
            "code" : "641372",
            "display" : "B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)"
          },
          {
            "code" : "641375",
            "display" : "B-lymphoblastic leukemia/lymphoma with t(17;19)"
          },
          {
            "code" : "641380",
            "display" : "PAPASH syndrome"
          },
          {
            "code" : "641385",
            "display" : "PASS syndrome"
          },
          {
            "code" : "641390",
            "display" : "PsAPASH syndrome"
          },
          {
            "code" : "641396",
            "display" : "Central nervous system tuberculosis"
          },
          {
            "code" : "641496",
            "display" : "Childhood-onset schizophrenia"
          },
          {
            "code" : "641829",
            "display" : "Neonatal compartment syndrome"
          },
          {
            "code" : "642",
            "display" : "Hereditary sensory and autonomic neuropathy type 4"
          },
          {
            "code" : "642071",
            "display" : "Primary pulmonary vein stenosis"
          },
          {
            "code" : "642085",
            "display" : "Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type"
          },
          {
            "code" : "642099",
            "display" : "Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type"
          },
          {
            "code" : "642671",
            "display" : "Familial hyperaldosteronism type IV"
          },
          {
            "code" : "642675",
            "display" : "CHD8 overgrowth syndrome"
          },
          {
            "code" : "642691",
            "display" : "Fragile X-associated primary ovarian insufficiency"
          },
          {
            "code" : "642747",
            "display" : "PUM1-related cerebellar ataxia"
          },
          {
            "code" : "642763",
            "display" : "Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation"
          },
          {
            "code" : "642788",
            "display" : "Cushing syndrome due to cortisol-producing adrenocortical adenoma"
          },
          {
            "code" : "64280",
            "display" : "Childhood absence epilepsy"
          },
          {
            "code" : "642945",
            "display" : "Perrault syndrome type 1"
          },
          {
            "code" : "642954",
            "display" : "Autosomal recessive ataxia due to PEX16 deficiency"
          },
          {
            "code" : "642965",
            "display" : "Autosomal recessive ataxia due to PEX2 deficiency"
          },
          {
            "code" : "642976",
            "display" : "Perrault syndrome type 2"
          },
          {
            "code" : "643",
            "display" : "Giant axonal neuropathy"
          },
          {
            "code" : "643503",
            "display" : "Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome"
          },
          {
            "code" : "643538",
            "display" : "Hao-Fountain syndrome due to USP7 mutation"
          },
          {
            "code" : "643549",
            "display" : "Hao-Fountain syndrome"
          },
          {
            "code" : "644",
            "display" : "NARP syndrome"
          },
          {
            "code" : "645188",
            "display" : "Spinal dermal sinus"
          },
          {
            "code" : "645285",
            "display" : "Chaotic conus spinal cord lipoma"
          },
          {
            "code" : "645288",
            "display" : "Terminal extramedullary conus spinal cord lipoma"
          },
          {
            "code" : "645291",
            "display" : "Transitional extramedullary conus spinal cord lipoma"
          },
          {
            "code" : "645294",
            "display" : "Posterior extramedullary conus spinal cord lipoma"
          },
          {
            "code" : "645297",
            "display" : "Extramedullary conus spinal cord lipoma"
          },
          {
            "code" : "645300",
            "display" : "Lipomatous non-saccular limited dorsal myeloschisis"
          },
          {
            "code" : "645310",
            "display" : "Fibroneural non-saccular limited dorsal myeloschisis"
          },
          {
            "code" : "645322",
            "display" : "Isolated transitional filum lipoma"
          },
          {
            "code" : "645325",
            "display" : "Isolated filum lipoma"
          },
          {
            "code" : "645334",
            "display" : "Retained medullary cord"
          },
          {
            "code" : "645337",
            "display" : "Terminal myelocystocele"
          },
          {
            "code" : "645340",
            "display" : "Non-terminal myelocystocele"
          },
          {
            "code" : "645343",
            "display" : "Non-saccular limited dorsal myeloschisis"
          },
          {
            "code" : "645350",
            "display" : "Segmental arterial mediolysis"
          },
          {
            "code" : "645354",
            "display" : "Saccular limited dorsal myeloschisis"
          },
          {
            "code" : "645359",
            "display" : "Intramedullary non-dysraphic spinal cord lipoma"
          },
          {
            "code" : "645362",
            "display" : "Dorsal spinal cord lipoma"
          },
          {
            "code" : "645378",
            "display" : "Myelic limited dorsal malformation"
          },
          {
            "code" : "645383",
            "display" : "True myelomeningocele"
          },
          {
            "code" : "645388",
            "display" : "Hemi-myelomeningocele"
          },
          {
            "code" : "645393",
            "display" : "Hemi-myeloschisis"
          },
          {
            "code" : "645398",
            "display" : "Myeloschisis"
          },
          {
            "code" : "645401",
            "display" : "True myeloschisis"
          },
          {
            "code" : "64542",
            "display" : "Acrofacial dysostosis, Kennedy-Teebi type"
          },
          {
            "code" : "64545",
            "display" : "Benign idiopathic neonatal seizures"
          },
          {
            "code" : "645613",
            "display" : "Classical dermatomyositis"
          },
          {
            "code" : "645617",
            "display" : "Amyopathic dermatomyositis"
          },
          {
            "code" : "645626",
            "display" : "Adermatopathic dermatomyositis"
          },
          {
            "code" : "645749",
            "display" : "Congenital esophageal stenosis"
          },
          {
            "code" : "645793",
            "display" : "Spontaneous intestinal perforation"
          },
          {
            "code" : "645807",
            "display" : "Primary tuberculous lymphadenitis"
          },
          {
            "code" : "645814",
            "display" : "Primary pulmonary tuberculosis"
          },
          {
            "code" : "645822",
            "display" : "Primary bone and joint tuberculosis"
          },
          {
            "code" : "645849",
            "display" : "Primary cutaneous tuberculosis"
          },
          {
            "code" : "645854",
            "display" : "Multifocal tuberculosis"
          },
          {
            "code" : "645859",
            "display" : "Primary tuberculosis of the digestive system"
          },
          {
            "code" : "645874",
            "display" : "Primary genito-urinary tuberculosis"
          },
          {
            "code" : "646",
            "display" : "Niemann-Pick disease type C"
          },
          {
            "code" : "646113",
            "display" : "Intermediate collagen VI-related muscular dystrophy"
          },
          {
            "code" : "646136",
            "display" : "Dysplastic cortical hyperostosis, Al-Gazali type"
          },
          {
            "code" : "646139",
            "display" : "Dysplastic cortical hyperostosis"
          },
          {
            "code" : "646278",
            "display" : "CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome"
          },
          {
            "code" : "64686",
            "display" : "Tolosa-Hunt syndrome"
          },
          {
            "code" : "64692",
            "display" : "Oroya fever"
          },
          {
            "code" : "64694",
            "display" : "Trench fever"
          },
          {
            "code" : "647",
            "display" : "Nijmegen breakage syndrome"
          },
          {
            "code" : "64720",
            "display" : "Leiomyosarcoma"
          },
          {
            "code" : "64722",
            "display" : "Granulomatous mastitis"
          },
          {
            "code" : "64734",
            "display" : "Iridocorneal endothelial syndrome"
          },
          {
            "code" : "64739",
            "display" : "Ovarian hyperstimulation syndrome"
          },
          {
            "code" : "64741",
            "display" : "Pulmonary blastoma"
          },
          {
            "code" : "64742",
            "display" : "Pleuropulmonary blastoma"
          },
          {
            "code" : "64743",
            "display" : "Hepatoportal sclerosis"
          },
          {
            "code" : "64744",
            "display" : "IgG4-related thyroid disease"
          },
          {
            "code" : "64745",
            "display" : "Pruritic urticarial papules and plaques of pregnancy"
          },
          {
            "code" : "64748",
            "display" : "Dejerine-Sottas syndrome"
          },
          {
            "code" : "64751",
            "display" : "Hereditary motor and sensory neuropathy type 5"
          },
          {
            "code" : "64752",
            "display" : "Hereditary sensory and autonomic neuropathy type 5"
          },
          {
            "code" : "64753",
            "display" : "Spinocerebellar ataxia with axonal neuropathy type 2"
          },
          {
            "code" : "64754",
            "display" : "Nevus comedonicus syndrome"
          },
          {
            "code" : "64755",
            "display" : "Becker nevus syndrome"
          },
          {
            "code" : "647667",
            "display" : "Mandibuloacral dysplasia associated to MTX2"
          },
          {
            "code" : "647676",
            "display" : "Multiple epiphyseal dysplasia type 7"
          },
          {
            "code" : "647681",
            "display" : "Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome"
          },
          {
            "code" : "647772",
            "display" : "Isolated primary pigmented nodular adrenocortical disease"
          },
          {
            "code" : "647782",
            "display" : "Isolated micronodular adrenocortical disease"
          },
          {
            "code" : "647788",
            "display" : "Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome"
          },
          {
            "code" : "647794",
            "display" : "Isolated persistent urogenital sinus"
          },
          {
            "code" : "647799",
            "display" : "MYT1L-related developmental delay-intellectual disability-obesity syndrome"
          },
          {
            "code" : "647804",
            "display" : "Combined immunodeficiency due to FCHO1 deficiency"
          },
          {
            "code" : "647811",
            "display" : "Cardiac-urogenital syndrome"
          },
          {
            "code" : "647815",
            "display" : "Keratoendotheliitis fugax hereditaria"
          },
          {
            "code" : "647823",
            "display" : "Idiopathic pregnancy-associated osteoporosis"
          },
          {
            "code" : "647834",
            "display" : "SLC40A1-related hemochromatosis"
          },
          {
            "code" : "647916",
            "display" : "Conjoined twins"
          },
          {
            "code" : "648",
            "display" : "Noonan syndrome"
          },
          {
            "code" : "648562",
            "display" : "Ferroportin Disease"
          },
          {
            "code" : "648581",
            "display" : "Digenic hemochromatosis"
          },
          {
            "code" : "648665",
            "display" : "Infectious scleritis"
          },
          {
            "code" : "648675",
            "display" : "Idiopathic scleritis"
          },
          {
            "code" : "648681",
            "display" : "Immune-mediated scleritis"
          },
          {
            "code" : "648684",
            "display" : "Central retinal artery occlusion"
          },
          {
            "code" : "648919",
            "display" : "Idiopathic catatonia"
          },
          {
            "code" : "648992",
            "display" : "Non-syndromic bridging bronchus"
          },
          {
            "code" : "649",
            "display" : "Norrie disease"
          },
          {
            "code" : "649010",
            "display" : "Non-syndromic congenital bronchial atresia"
          },
          {
            "code" : "649029",
            "display" : "Isolated left bronchial isomerism"
          },
          {
            "code" : "65",
            "display" : "Leber congenital amaurosis"
          },
          {
            "code" : "650",
            "display" : "LCAT deficiency"
          },
          {
            "code" : "650077",
            "display" : "Genetic central precocious puberty in female"
          },
          {
            "code" : "650082",
            "display" : "Secondary central precocious puberty in female"
          },
          {
            "code" : "650087",
            "display" : "Primary central precocious puberty in male"
          },
          {
            "code" : "650092",
            "display" : "Secondary central precocious puberty in male"
          },
          {
            "code" : "650097",
            "display" : "Genetic central precocious puberty in male"
          },
          {
            "code" : "650102",
            "display" : "Non-genetic central precocious puberty in male"
          },
          {
            "code" : "652",
            "display" : "Multiple endocrine neoplasia type 1"
          },
          {
            "code" : "65250",
            "display" : "Perineural cyst"
          },
          {
            "code" : "65282",
            "display" : "Carvajal syndrome"
          },
          {
            "code" : "65283",
            "display" : "Timothy syndrome"
          },
          {
            "code" : "65284",
            "display" : "Biotin-thiamine-responsive basal ganglia disease"
          },
          {
            "code" : "65285",
            "display" : "Lhermitte-Duclos disease"
          },
          {
            "code" : "65286",
            "display" : "3q29 microdeletion syndrome"
          },
          {
            "code" : "65287",
            "display" : "Beta-ureidopropionase deficiency"
          },
          {
            "code" : "65288",
            "display" : "Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome"
          },
          {
            "code" : "653",
            "display" : "Multiple endocrine neoplasia type 2"
          },
          {
            "code" : "654",
            "display" : "Nephroblastoma"
          },
          {
            "code" : "655",
            "display" : "Nephronophthisis"
          },
          {
            "code" : "656",
            "display" : "Genetic steroid-resistant nephrotic syndrome"
          },
          {
            "code" : "65681",
            "display" : "Vaginal atresia"
          },
          {
            "code" : "65682",
            "display" : "Benign recurrent intrahepatic cholestasis"
          },
          {
            "code" : "65683",
            "display" : "Isolated focal cortical dysplasia"
          },
          {
            "code" : "65684",
            "display" : "Monomelic amyotrophy"
          },
          {
            "code" : "65720",
            "display" : "Arthrogryposis-severe scoliosis syndrome"
          },
          {
            "code" : "65743",
            "display" : "Autosomal dominant multiple pterygium syndrome"
          },
          {
            "code" : "65748",
            "display" : "Multiple self-healing squamous epithelioma"
          },
          {
            "code" : "65759",
            "display" : "Carpenter syndrome"
          },
          {
            "code" : "65798",
            "display" : "Goodman syndrome"
          },
          {
            "code" : "659",
            "display" : "Mutilating palmoplantar keratoderma with periorificial keratotic plaques"
          },
          {
            "code" : "660",
            "display" : "Omphalocele"
          },
          {
            "code" : "661",
            "display" : "Congenital central hypoventilation syndrome"
          },
          {
            "code" : "662",
            "display" : "Yellow nail syndrome"
          },
          {
            "code" : "663",
            "display" : "Mitochondrial DNA-related progressive external ophthalmoplegia"
          },
          {
            "code" : "664",
            "display" : "Ornithine transcarbamylase deficiency"
          },
          {
            "code" : "66518",
            "display" : "Short fifth metacarpals-insulin resistance syndrome"
          },
          {
            "code" : "66529",
            "display" : "Tako-Tsubo cardiomyopathy"
          },
          {
            "code" : "666",
            "display" : "Osteogenesis imperfecta"
          },
          {
            "code" : "66624",
            "display" : "PANDAS"
          },
          {
            "code" : "66625",
            "display" : "Cerebrooculonasal syndrome"
          },
          {
            "code" : "66627",
            "display" : "Tenosynovial giant cell tumor"
          },
          {
            "code" : "66628",
            "display" : "Obesity due to congenital leptin deficiency"
          },
          {
            "code" : "66629",
            "display" : "Goldberg-Shprintzen megacolon syndrome"
          },
          {
            "code" : "66630",
            "display" : "Congenital pseudoarthrosis of the clavicle"
          },
          {
            "code" : "66631",
            "display" : "CEDNIK syndrome"
          },
          {
            "code" : "66633",
            "display" : "Sensorineural hearing loss-early graying-essential tremor syndrome"
          },
          {
            "code" : "66634",
            "display" : "Dilated cardiomyopathy with ataxia"
          },
          {
            "code" : "66637",
            "display" : "Diaphanospondylodysostosis"
          },
          {
            "code" : "66661",
            "display" : "Mast cell sarcoma"
          },
          {
            "code" : "66662",
            "display" : "Extracutaneous mastocytoma"
          },
          {
            "code" : "667",
            "display" : "Autosomal recessive malignant osteopetrosis"
          },
          {
            "code" : "668",
            "display" : "Osteosarcoma"
          },
          {
            "code" : "67",
            "display" : "Amoebiasis due to Entamoeba histolytica"
          },
          {
            "code" : "67036",
            "display" : "Autosomal dominant optic atrophy and cataract"
          },
          {
            "code" : "67038",
            "display" : "B-cell chronic lymphocytic leukemia"
          },
          {
            "code" : "67039",
            "display" : "Segmental odontomaxillary dysplasia"
          },
          {
            "code" : "67041",
            "display" : "Hyaluronidase deficiency"
          },
          {
            "code" : "67042",
            "display" : "Late-onset retinal degeneration"
          },
          {
            "code" : "67043",
            "display" : "Amoebic keratitis"
          },
          {
            "code" : "67044",
            "display" : "Thrombocytopenia with congenital dyserythropoietic anemia"
          },
          {
            "code" : "67045",
            "display" : "X-linked intellectual disability with isolated growth hormone deficiency"
          },
          {
            "code" : "67046",
            "display" : "3-methylglutaconic aciduria type 1"
          },
          {
            "code" : "67047",
            "display" : "3-methylglutaconic aciduria type 3"
          },
          {
            "code" : "67048",
            "display" : "3-methylglutaconic aciduria type 4"
          },
          {
            "code" : "672",
            "display" : "Pallister-Hall syndrome"
          },
          {
            "code" : "673",
            "display" : "Malaria"
          },
          {
            "code" : "674",
            "display" : "Accessory pancreas"
          },
          {
            "code" : "675",
            "display" : "Annular pancreas"
          },
          {
            "code" : "676",
            "display" : "Hereditary chronic pancreatitis"
          },
          {
            "code" : "677",
            "display" : "Pancreatoblastoma"
          },
          {
            "code" : "678",
            "display" : "Papillon-Lefèvre syndrome"
          },
          {
            "code" : "679",
            "display" : "Malignant atrophic papulosis"
          },
          {
            "code" : "68",
            "display" : "Amoebiasis due to free-living amoebae"
          },
          {
            "code" : "681",
            "display" : "Hypokalemic periodic paralysis"
          },
          {
            "code" : "682",
            "display" : "Hyperkalemic periodic paralysis"
          },
          {
            "code" : "683",
            "display" : "Progressive supranuclear palsy"
          },
          {
            "code" : "684",
            "display" : "Paramyotonia congenita of Von Eulenburg"
          },
          {
            "code" : "69061",
            "display" : "Idiopathic steroid-sensitive nephrotic syndrome"
          },
          {
            "code" : "69063",
            "display" : "Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization"
          },
          {
            "code" : "69076",
            "display" : "Familial renal glucosuria"
          },
          {
            "code" : "69077",
            "display" : "Rhabdoid tumor"
          },
          {
            "code" : "69078",
            "display" : "Liposarcoma"
          },
          {
            "code" : "69082",
            "display" : "Odonto-tricho-ungual-digito-palmar syndrome"
          },
          {
            "code" : "69083",
            "display" : "Ectodermal dysplasia with natal teeth, Turnpenny type"
          },
          {
            "code" : "69084",
            "display" : "Pure hair and nail ectodermal dysplasia"
          },
          {
            "code" : "69085",
            "display" : "Limb-mammary syndrome"
          },
          {
            "code" : "69087",
            "display" : "Naegeli-Franceschetti-Jadassohn syndrome"
          },
          {
            "code" : "69088",
            "display" : "Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome"
          },
          {
            "code" : "69125",
            "display" : "Anonychia with flexural pigmentation"
          },
          {
            "code" : "69126",
            "display" : "PAPA syndrome"
          },
          {
            "code" : "69663",
            "display" : "Low phospholipid-associated cholelithiasis"
          },
          {
            "code" : "69665",
            "display" : "Intrahepatic cholestasis of pregnancy"
          },
          {
            "code" : "69723",
            "display" : "Tyrosinemia type 3"
          },
          {
            "code" : "69735",
            "display" : "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome"
          },
          {
            "code" : "69736",
            "display" : "Bilateral acute depigmentation of the iris"
          },
          {
            "code" : "69737",
            "display" : "Bosley-Salih-Alorainy syndrome"
          },
          {
            "code" : "69739",
            "display" : "Athabaskan brainstem dysgenesis syndrome"
          },
          {
            "code" : "69744",
            "display" : "Circumscribed palmoplantar hypokeratosis"
          },
          {
            "code" : "69745",
            "display" : "Warty dyskeratoma"
          },
          {
            "code" : "699",
            "display" : "Pearson syndrome"
          },
          {
            "code" : "7",
            "display" : "3C syndrome"
          },
          {
            "code" : "70",
            "display" : "Proximal spinal muscular atrophy"
          },
          {
            "code" : "700",
            "display" : "Alopecia totalis"
          },
          {
            "code" : "701",
            "display" : "Alopecia universalis"
          },
          {
            "code" : "702",
            "display" : "Pelizaeus-Merzbacher disease"
          },
          {
            "code" : "703",
            "display" : "Bullous pemphigoid"
          },
          {
            "code" : "704",
            "display" : "Pemphigus vulgaris"
          },
          {
            "code" : "70472",
            "display" : "Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type"
          },
          {
            "code" : "70475",
            "display" : "Radiation proctitis"
          },
          {
            "code" : "70476",
            "display" : "Vernal keratoconjunctivitis"
          },
          {
            "code" : "705",
            "display" : "Pendred syndrome"
          },
          {
            "code" : "70567",
            "display" : "Cholangiocarcinoma"
          },
          {
            "code" : "70568",
            "display" : "Post-transplant lymphoproliferative disease"
          },
          {
            "code" : "70573",
            "display" : "Small cell lung cancer"
          },
          {
            "code" : "70578",
            "display" : "Adult acute respiratory distress syndrome"
          },
          {
            "code" : "70587",
            "display" : "Infant acute respiratory distress syndrome"
          },
          {
            "code" : "70588",
            "display" : "Meconium aspiration syndrome"
          },
          {
            "code" : "70589",
            "display" : "Bronchopulmonary dysplasia"
          },
          {
            "code" : "70590",
            "display" : "Infantile apnea"
          },
          {
            "code" : "70591",
            "display" : "Chronic thromboembolic pulmonary hypertension"
          },
          {
            "code" : "70592",
            "display" : "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency"
          },
          {
            "code" : "70593",
            "display" : "Immunodeficiency due to selective anti-polysaccharide antibody deficiency"
          },
          {
            "code" : "70594",
            "display" : "Dopa-responsive dystonia due to sepiapterin reductase deficiency"
          },
          {
            "code" : "70595",
            "display" : "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome"
          },
          {
            "code" : "70596",
            "display" : "Congenital Epstein-Barr virus infection"
          },
          {
            "code" : "707",
            "display" : "Plague"
          },
          {
            "code" : "708",
            "display" : "Peters anomaly"
          },
          {
            "code" : "709",
            "display" : "Peters plus syndrome"
          },
          {
            "code" : "71",
            "display" : "Chylomicron retention disease"
          },
          {
            "code" : "710",
            "display" : "Pfeiffer syndrome"
          },
          {
            "code" : "712",
            "display" : "Hemolytic anemia due to glucophosphate isomerase deficiency"
          },
          {
            "code" : "71211",
            "display" : "Neuromyelitis optica spectrum disorder"
          },
          {
            "code" : "71212",
            "display" : "Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency"
          },
          {
            "code" : "71213",
            "display" : "Retinal capillary malformation"
          },
          {
            "code" : "71267",
            "display" : "Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome"
          },
          {
            "code" : "71271",
            "display" : "Split hand-split foot-deafness syndrome"
          },
          {
            "code" : "71272",
            "display" : "Sandifer syndrome"
          },
          {
            "code" : "71273",
            "display" : "Renal nutcracker syndrome"
          },
          {
            "code" : "71274",
            "display" : "Disseminated peritoneal leiomyomatosis"
          },
          {
            "code" : "71275",
            "display" : "Rh deficiency syndrome"
          },
          {
            "code" : "71276",
            "display" : "Silent sinus syndrome"
          },
          {
            "code" : "71277",
            "display" : "Classic glucose transporter type 1 deficiency syndrome"
          },
          {
            "code" : "71278",
            "display" : "Congenital brain dysgenesis due to glutamine synthetase deficiency"
          },
          {
            "code" : "71279",
            "display" : "CANOMAD syndrome"
          },
          {
            "code" : "71289",
            "display" : "Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome"
          },
          {
            "code" : "71290",
            "display" : "Familial platelet disorder with associated myeloid malignancy"
          },
          {
            "code" : "713",
            "display" : "Glycogen storage disease due to phosphoglycerate kinase 1 deficiency"
          },
          {
            "code" : "714",
            "display" : "Hemolytic anemia due to diphosphoglycerate mutase deficiency"
          },
          {
            "code" : "71493",
            "display" : "Familial thrombocytosis"
          },
          {
            "code" : "715",
            "display" : "Glycogen storage disease due to muscle phosphorylase kinase deficiency"
          },
          {
            "code" : "71505",
            "display" : "Cancer-associated retinopathy"
          },
          {
            "code" : "71517",
            "display" : "Rapid-onset dystonia-parkinsonism"
          },
          {
            "code" : "71518",
            "display" : "Benign paroxysmal torticollis of infancy"
          },
          {
            "code" : "71519",
            "display" : "Psychogenic movement disorders"
          },
          {
            "code" : "71526",
            "display" : "Obesity due to pro-opiomelanocortin deficiency"
          },
          {
            "code" : "71528",
            "display" : "Obesity due to prohormone convertase I deficiency"
          },
          {
            "code" : "71529",
            "display" : "Obesity due to melanocortin 4 receptor deficiency"
          },
          {
            "code" : "716",
            "display" : "Phenylketonuria"
          },
          {
            "code" : "718",
            "display" : "Isolated Pierre Robin syndrome"
          },
          {
            "code" : "72",
            "display" : "Angelman syndrome"
          },
          {
            "code" : "720",
            "display" : "Pili bifurcati"
          },
          {
            "code" : "721",
            "display" : "Gray platelet syndrome"
          },
          {
            "code" : "722",
            "display" : "Hypoplasminogenemia"
          },
          {
            "code" : "723",
            "display" : "Pneumocystosis"
          },
          {
            "code" : "724",
            "display" : "Idiopathic acute eosinophilic pneumonia"
          },
          {
            "code" : "725",
            "display" : "Continuous spikes and waves during sleep"
          },
          {
            "code" : "726",
            "display" : "Alpers-Huttenlocher syndrome"
          },
          {
            "code" : "727",
            "display" : "Microscopic polyangiitis"
          },
          {
            "code" : "728",
            "display" : "Relapsing polychondritis"
          },
          {
            "code" : "729",
            "display" : "Polycythemia vera"
          },
          {
            "code" : "73",
            "display" : "Gorham-Stout disease"
          },
          {
            "code" : "730",
            "display" : "Autosomal dominant polycystic kidney disease"
          },
          {
            "code" : "731",
            "display" : "Autosomal recessive polycystic kidney disease"
          },
          {
            "code" : "732",
            "display" : "Polymyositis"
          },
          {
            "code" : "73223",
            "display" : "Global developmental delay-osteopenia-ectodermal defect syndrome"
          },
          {
            "code" : "73224",
            "display" : "Kidney tubulopathy-dilated cardiomyopathy syndrome"
          },
          {
            "code" : "73229",
            "display" : "HANAC syndrome"
          },
          {
            "code" : "73230",
            "display" : "Ossification anomalies-psychomotor developmental delay syndrome"
          },
          {
            "code" : "73245",
            "display" : "Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome"
          },
          {
            "code" : "73246",
            "display" : "Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome"
          },
          {
            "code" : "73256",
            "display" : "Central neurocytoma"
          },
          {
            "code" : "73260",
            "display" : "Paracoccidioidomycosis"
          },
          {
            "code" : "73263",
            "display" : "Zygomycosis"
          },
          {
            "code" : "73267",
            "display" : "Non-24-hour sleep-wake syndrome"
          },
          {
            "code" : "73271",
            "display" : "Bleeding diathesis due to a collagen receptor defect"
          },
          {
            "code" : "73272",
            "display" : "Growth delay due to insulin-like growth factor type 1 deficiency"
          },
          {
            "code" : "73273",
            "display" : "Growth delay due to insulin-like growth factor I resistance"
          },
          {
            "code" : "733",
            "display" : "Familial adenomatous polyposis"
          },
          {
            "code" : "734",
            "display" : "Alpha delta granule deficiency"
          },
          {
            "code" : "73423",
            "display" : "Acute ackee fruit intoxication"
          },
          {
            "code" : "735",
            "display" : "Porokeratosis of Mibelli"
          },
          {
            "code" : "737",
            "display" : "Porokeratosis plantaris palmaris et disseminata"
          },
          {
            "code" : "739",
            "display" : "Prader-Willi syndrome"
          },
          {
            "code" : "74",
            "display" : "Angiostrongyliasis"
          },
          {
            "code" : "740",
            "display" : "Hutchinson-Gilford progeria syndrome"
          },
          {
            "code" : "741",
            "display" : "Familial mitral valve prolapse"
          },
          {
            "code" : "742",
            "display" : "Prolidase deficiency"
          },
          {
            "code" : "743",
            "display" : "Severe hereditary thrombophilia due to congenital protein S deficiency"
          },
          {
            "code" : "744",
            "display" : "Proteus syndrome"
          },
          {
            "code" : "745",
            "display" : "Severe hereditary thrombophilia due to congenital protein C deficiency"
          },
          {
            "code" : "746",
            "display" : "Mitochondrial trifunctional protein deficiency"
          },
          {
            "code" : "747",
            "display" : "Autoimmune pulmonary alveolar proteinosis"
          },
          {
            "code" : "749",
            "display" : "Congenital prekallikrein deficiency"
          },
          {
            "code" : "750",
            "display" : "Pseudoachondroplasia"
          },
          {
            "code" : "752",
            "display" : "46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"
          },
          {
            "code" : "75233",
            "display" : "Wolman disease"
          },
          {
            "code" : "75234",
            "display" : "Cholesteryl ester storage disease"
          },
          {
            "code" : "75249",
            "display" : "Familial isolated restrictive cardiomyopathy"
          },
          {
            "code" : "753",
            "display" : "46,XY difference of sex development due to 5-alpha-reductase 2 deficiency"
          },
          {
            "code" : "75325",
            "display" : "Osteosclerosis-ichthyosis-premature ovarian failure syndrome"
          },
          {
            "code" : "75326",
            "display" : "Retinal arterial tortuosity"
          },
          {
            "code" : "75327",
            "display" : "North Carolina macular dystrophy"
          },
          {
            "code" : "75373",
            "display" : "Progressive bifocal chorioretinal atrophy"
          },
          {
            "code" : "75374",
            "display" : "Bradyopsia"
          },
          {
            "code" : "75376",
            "display" : "Familial drusen"
          },
          {
            "code" : "75377",
            "display" : "Central areolar choroidal dystrophy"
          },
          {
            "code" : "75378",
            "display" : "Oligocone trichromacy"
          },
          {
            "code" : "75381",
            "display" : "Cystoid macular dystrophy"
          },
          {
            "code" : "75382",
            "display" : "Oguchi disease"
          },
          {
            "code" : "75389",
            "display" : "Brain malformation-congenital heart disease-postaxial polydactyly syndrome"
          },
          {
            "code" : "75391",
            "display" : "Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency"
          },
          {
            "code" : "75392",
            "display" : "Periodontal Ehlers-Danlos syndrome"
          },
          {
            "code" : "75496",
            "display" : "B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome"
          },
          {
            "code" : "75497",
            "display" : "X-linked Ehlers-Danlos syndrome"
          },
          {
            "code" : "755",
            "display" : "Leydig cell hypoplasia"
          },
          {
            "code" : "75508",
            "display" : "Angioosteohypotrophic syndrome"
          },
          {
            "code" : "75563",
            "display" : "X-linked sideroblastic anemia"
          },
          {
            "code" : "75564",
            "display" : "Acquired idiopathic sideroblastic anemia"
          },
          {
            "code" : "75565",
            "display" : "Tropical endomyocardial fibrosis"
          },
          {
            "code" : "75566",
            "display" : "Loeffler endocarditis"
          },
          {
            "code" : "75567",
            "display" : "Primary progressive freezing gait"
          },
          {
            "code" : "756",
            "display" : "Pseudohypoaldosteronism type 1"
          },
          {
            "code" : "757",
            "display" : "Pseudohypoaldosteronism type 2"
          },
          {
            "code" : "758",
            "display" : "Pseudoxanthoma elasticum"
          },
          {
            "code" : "75840",
            "display" : "Congenital muscular dystrophy, Ullrich type"
          },
          {
            "code" : "75857",
            "display" : "6q terminal deletion syndrome"
          },
          {
            "code" : "75858",
            "display" : "MORM syndrome"
          },
          {
            "code" : "76",
            "display" : "Strongyloidiasis"
          },
          {
            "code" : "760",
            "display" : "Purine nucleoside phosphorylase deficiency"
          },
          {
            "code" : "761",
            "display" : "Immunoglobulin A vasculitis"
          },
          {
            "code" : "763",
            "display" : "Pycnodysostosis"
          },
          {
            "code" : "764",
            "display" : "Pyomyositis"
          },
          {
            "code" : "765",
            "display" : "Pyruvate dehydrogenase deficiency"
          },
          {
            "code" : "766",
            "display" : "Hemolytic anemia due to red cell pyruvate kinase deficiency"
          },
          {
            "code" : "767",
            "display" : "Polyarteritis nodosa"
          },
          {
            "code" : "769",
            "display" : "Rabson-Mendenhall syndrome"
          },
          {
            "code" : "770",
            "display" : "Rabies"
          },
          {
            "code" : "772",
            "display" : "Infantile Refsum disease"
          },
          {
            "code" : "77258",
            "display" : "Trichorhinophalangeal syndrome type 1"
          },
          {
            "code" : "77259",
            "display" : "Gaucher disease type 1"
          },
          {
            "code" : "77260",
            "display" : "Gaucher disease type 2"
          },
          {
            "code" : "77261",
            "display" : "Gaucher disease type 3"
          },
          {
            "code" : "77292",
            "display" : "Infantile neurovisceral acid sphingomyelinase deficiency"
          },
          {
            "code" : "77293",
            "display" : "Chronic visceral acid sphingomyelinase deficiency"
          },
          {
            "code" : "77295",
            "display" : "Odontoleukodystrophy"
          },
          {
            "code" : "77296",
            "display" : "Morgagni-Stewart-Morel syndrome"
          },
          {
            "code" : "77297",
            "display" : "Majeed syndrome"
          },
          {
            "code" : "77298",
            "display" : "Anophthalmia/microphthalmia-esophageal atresia syndrome"
          },
          {
            "code" : "77299",
            "display" : "Microphthalmia-brain atrophy syndrome"
          },
          {
            "code" : "773",
            "display" : "Refsum disease"
          },
          {
            "code" : "77300",
            "display" : "Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome"
          },
          {
            "code" : "77301",
            "display" : "Monosomy 9q22.3"
          },
          {
            "code" : "774",
            "display" : "Hereditary hemorrhagic telangiectasia"
          },
          {
            "code" : "776",
            "display" : "Lujan-Fryns syndrome"
          },
          {
            "code" : "777",
            "display" : "X-linked non-syndromic intellectual disability"
          },
          {
            "code" : "778",
            "display" : "Rett syndrome"
          },
          {
            "code" : "779",
            "display" : "Reynolds syndrome"
          },
          {
            "code" : "78",
            "display" : "Ankylostomiasis"
          },
          {
            "code" : "780",
            "display" : "Rhabdomyosarcoma"
          },
          {
            "code" : "781",
            "display" : "Q fever"
          },
          {
            "code" : "782",
            "display" : "Axenfeld-Rieger syndrome"
          },
          {
            "code" : "783",
            "display" : "Rubinstein-Taybi syndrome"
          },
          {
            "code" : "785",
            "display" : "Estrogen resistance syndrome"
          },
          {
            "code" : "786",
            "display" : "Generalized glucocorticoid resistance syndrome"
          },
          {
            "code" : "79",
            "display" : "Congenital alpha2-antiplasmin deficiency"
          },
          {
            "code" : "790",
            "display" : "Retinoblastoma"
          },
          {
            "code" : "79076",
            "display" : "Juvenile polyposis of infancy"
          },
          {
            "code" : "79078",
            "display" : "IgG4-related dacryoadenitis and sialadenitis"
          },
          {
            "code" : "79083",
            "display" : "PPARG-related familial partial lipodystrophy"
          },
          {
            "code" : "79084",
            "display" : "Familial partial lipodystrophy, Köbberling type"
          },
          {
            "code" : "79085",
            "display" : "AKT2-related familial partial lipodystrophy"
          },
          {
            "code" : "79086",
            "display" : "Acquired generalized lipodystrophy"
          },
          {
            "code" : "79087",
            "display" : "Acquired partial lipodystrophy"
          },
          {
            "code" : "79091",
            "display" : "Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome"
          },
          {
            "code" : "79093",
            "display" : "Foix-Alajouanine syndrome"
          },
          {
            "code" : "79094",
            "display" : "Grange syndrome"
          },
          {
            "code" : "79095",
            "display" : "Congenital bile acid synthesis defect type 4"
          },
          {
            "code" : "79096",
            "display" : "Pyridoxal phosphate-responsive seizures"
          },
          {
            "code" : "79097",
            "display" : "Folinic acid-responsive seizures"
          },
          {
            "code" : "79098",
            "display" : "Sympathetic ophthalmia"
          },
          {
            "code" : "79099",
            "display" : "Interstitial granulomatous dermatitis with arthritis"
          },
          {
            "code" : "791",
            "display" : "Retinitis pigmentosa"
          },
          {
            "code" : "79100",
            "display" : "Atrophoderma vermiculata"
          },
          {
            "code" : "79101",
            "display" : "Hyperprolinemia type 2"
          },
          {
            "code" : "79102",
            "display" : "Thyrotoxic periodic paralysis"
          },
          {
            "code" : "79105",
            "display" : "Myxofibrosarcoma"
          },
          {
            "code" : "79106",
            "display" : "Eiken syndrome"
          },
          {
            "code" : "79107",
            "display" : "Developmental malformations-deafness-dystonia syndrome"
          },
          {
            "code" : "79113",
            "display" : "Mandibulofacial dysostosis-microcephaly syndrome"
          },
          {
            "code" : "79118",
            "display" : "Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome"
          },
          {
            "code" : "79124",
            "display" : "Hepatic veno-occlusive disease-immunodeficiency syndrome"
          },
          {
            "code" : "79126",
            "display" : "Acute interstitial pneumonia"
          },
          {
            "code" : "79127",
            "display" : "Respiratory bronchiolitis-interstitial lung disease syndrome"
          },
          {
            "code" : "79128",
            "display" : "Lymphoid interstitial pneumonia"
          },
          {
            "code" : "79129",
            "display" : "Trichodysplasia-amelogenesis imperfecta syndrome"
          },
          {
            "code" : "79133",
            "display" : "Focal facial dermal dysplasia type I"
          },
          {
            "code" : "79134",
            "display" : "DEND syndrome"
          },
          {
            "code" : "79135",
            "display" : "Episodic ataxia type 3"
          },
          {
            "code" : "79136",
            "display" : "Episodic ataxia type 4"
          },
          {
            "code" : "79137",
            "display" : "Generalized epilepsy-paroxysmal dyskinesia syndrome"
          },
          {
            "code" : "79138",
            "display" : "Bickerstaff brainstem encephalitis"
          },
          {
            "code" : "79139",
            "display" : "Japanese encephalitis"
          },
          {
            "code" : "79140",
            "display" : "Cutaneous neuroendocrine carcinoma"
          },
          {
            "code" : "79141",
            "display" : "Hereditary painful callosities"
          },
          {
            "code" : "79143",
            "display" : "Isolated congenital anonychia"
          },
          {
            "code" : "79144",
            "display" : "Isolated congenital onychodysplasia"
          },
          {
            "code" : "79145",
            "display" : "Dowling-Degos disease"
          },
          {
            "code" : "79146",
            "display" : "Familial progressive hyperpigmentation"
          },
          {
            "code" : "79147",
            "display" : "Familial reactive perforating collagenosis"
          },
          {
            "code" : "79148",
            "display" : "Elastosis perforans serpiginosa"
          },
          {
            "code" : "79149",
            "display" : "Dermochondrocorneal dystrophy"
          },
          {
            "code" : "79150",
            "display" : "Linear and whorled nevoid hypermelanosis"
          },
          {
            "code" : "79151",
            "display" : "Acrokeratosis verruciformis of Hopf"
          },
          {
            "code" : "79152",
            "display" : "Disseminated superficial actinic porokeratosis"
          },
          {
            "code" : "79153",
            "display" : "Idiopathic trachyonychia"
          },
          {
            "code" : "79154",
            "display" : "2-aminoadipic 2-oxoadipic aciduria"
          },
          {
            "code" : "79155",
            "display" : "Hydroxykynureninuria"
          },
          {
            "code" : "79156",
            "display" : "Seizures-intellectual disability due to hydroxylysinuria syndrome"
          },
          {
            "code" : "79157",
            "display" : "2-methylbutyryl-CoA dehydrogenase deficiency"
          },
          {
            "code" : "79159",
            "display" : "Isobutyryl-CoA dehydrogenase deficiency"
          },
          {
            "code" : "792",
            "display" : "X-linked retinoschisis"
          },
          {
            "code" : "79230",
            "display" : "HJV or HAMP-related hemochromatosis"
          },
          {
            "code" : "79233",
            "display" : "Hypoxanthine guanine phosphoribosyltransferase partial deficiency"
          },
          {
            "code" : "79234",
            "display" : "Crigler-Najjar syndrome type 1"
          },
          {
            "code" : "79235",
            "display" : "Crigler-Najjar syndrome type 2"
          },
          {
            "code" : "79237",
            "display" : "Galactokinase deficiency"
          },
          {
            "code" : "79238",
            "display" : "Galactose epimerase deficiency"
          },
          {
            "code" : "79239",
            "display" : "Classic galactosemia"
          },
          {
            "code" : "79240",
            "display" : "Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency"
          },
          {
            "code" : "79241",
            "display" : "Biotinidase deficiency"
          },
          {
            "code" : "79242",
            "display" : "Holocarboxylase synthetase deficiency"
          },
          {
            "code" : "79243",
            "display" : "Pyruvate dehydrogenase E1-alpha deficiency"
          },
          {
            "code" : "79244",
            "display" : "Pyruvate dehydrogenase E2 deficiency"
          },
          {
            "code" : "79246",
            "display" : "Pyruvate dehydrogenase phosphatase deficiency"
          },
          {
            "code" : "79253",
            "display" : "Mild phenylketonuria"
          },
          {
            "code" : "79254",
            "display" : "Classic phenylketonuria"
          },
          {
            "code" : "79255",
            "display" : "GM1 gangliosidosis type 1"
          },
          {
            "code" : "79256",
            "display" : "GM1 gangliosidosis type 2"
          },
          {
            "code" : "79257",
            "display" : "GM1 gangliosidosis type 3"
          },
          {
            "code" : "79258",
            "display" : "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia"
          },
          {
            "code" : "79259",
            "display" : "Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib"
          },
          {
            "code" : "79262",
            "display" : "Adult neuronal ceroid lipofuscinosis"
          },
          {
            "code" : "79263",
            "display" : "Infantile neuronal ceroid lipofuscinosis"
          },
          {
            "code" : "79264",
            "display" : "Juvenile neuronal ceroid lipofuscinosis"
          },
          {
            "code" : "79269",
            "display" : "Sanfilippo syndrome type A"
          },
          {
            "code" : "79270",
            "display" : "Sanfilippo syndrome type B"
          },
          {
            "code" : "79271",
            "display" : "Sanfilippo syndrome type C"
          },
          {
            "code" : "79272",
            "display" : "Sanfilippo syndrome type D"
          },
          {
            "code" : "79273",
            "display" : "Hereditary coproporphyria"
          },
          {
            "code" : "79276",
            "display" : "Acute intermittent porphyria"
          },
          {
            "code" : "79277",
            "display" : "Congenital erythropoietic porphyria"
          },
          {
            "code" : "79278",
            "display" : "Autosomal erythropoietic protoporphyria"
          },
          {
            "code" : "79279",
            "display" : "Alpha-N-acetylgalactosaminidase deficiency type 1"
          },
          {
            "code" : "79280",
            "display" : "Alpha-N-acetylgalactosaminidase deficiency type 2"
          },
          {
            "code" : "79281",
            "display" : "Alpha-N-acetylgalactosaminidase deficiency type 3"
          },
          {
            "code" : "79282",
            "display" : "Methylmalonic acidemia with homocystinuria, type cblC"
          },
          {
            "code" : "79283",
            "display" : "Methylmalonic acidemia with homocystinuria, type cblD"
          },
          {
            "code" : "79284",
            "display" : "Methylmalonic acidemia with homocystinuria type cblF"
          },
          {
            "code" : "79292",
            "display" : "Fish-eye disease"
          },
          {
            "code" : "79293",
            "display" : "Familial LCAT deficiency"
          },
          {
            "code" : "79299",
            "display" : "Congenital glucokinase-related hyperinsulinism"
          },
          {
            "code" : "793",
            "display" : "SAPHO syndrome"
          },
          {
            "code" : "79301",
            "display" : "Congenital bile acid synthesis defect type 1"
          },
          {
            "code" : "79302",
            "display" : "Congenital bile acid synthesis defect type 3"
          },
          {
            "code" : "79303",
            "display" : "Congenital bile acid synthesis defect type 2"
          },
          {
            "code" : "79304",
            "display" : "Progressive familial intrahepatic cholestasis type 2"
          },
          {
            "code" : "79305",
            "display" : "Progressive familial intrahepatic cholestasis type 3"
          },
          {
            "code" : "79306",
            "display" : "Progressive familial intrahepatic cholestasis type 1"
          },
          {
            "code" : "79310",
            "display" : "Vitamin B12-responsive methylmalonic acidemia type cblA"
          },
          {
            "code" : "79311",
            "display" : "Vitamin B12-responsive methylmalonic acidemia type cblB"
          },
          {
            "code" : "79312",
            "display" : "Vitamin B12-unresponsive methylmalonic acidemia type mut-"
          },
          {
            "code" : "79314",
            "display" : "L-2-hydroxyglutaric aciduria"
          },
          {
            "code" : "79315",
            "display" : "D-2-hydroxyglutaric aciduria"
          },
          {
            "code" : "79318",
            "display" : "PMM2-CDG"
          },
          {
            "code" : "79319",
            "display" : "MPI-CDG"
          },
          {
            "code" : "79320",
            "display" : "ALG6-CDG"
          },
          {
            "code" : "79321",
            "display" : "ALG3-CDG"
          },
          {
            "code" : "79322",
            "display" : "DPM1-CDG"
          },
          {
            "code" : "79323",
            "display" : "MPDU1-CDG"
          },
          {
            "code" : "79324",
            "display" : "ALG12-CDG"
          },
          {
            "code" : "79325",
            "display" : "ALG8-CDG"
          },
          {
            "code" : "79326",
            "display" : "ALG2-CDG"
          },
          {
            "code" : "79327",
            "display" : "ALG1-CDG"
          },
          {
            "code" : "79328",
            "display" : "ALG9-CDG"
          },
          {
            "code" : "79329",
            "display" : "MGAT2-CDG"
          },
          {
            "code" : "79330",
            "display" : "MOGS-CDG"
          },
          {
            "code" : "79332",
            "display" : "B4GALT1-CDG"
          },
          {
            "code" : "79333",
            "display" : "COG7-CDG"
          },
          {
            "code" : "79345",
            "display" : "Brachytelephalangic chondrodysplasia punctata"
          },
          {
            "code" : "79346",
            "display" : "Chondrodysplasia punctata, tibial-metacarpal type"
          },
          {
            "code" : "79347",
            "display" : "Chondrodysplasia punctata, Toriello type"
          },
          {
            "code" : "79350",
            "display" : "3-phosphoserine phosphatase deficiency, infantile/juvenile form"
          },
          {
            "code" : "79351",
            "display" : "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form"
          },
          {
            "code" : "79394",
            "display" : "Congenital ichthyosiform erythroderma"
          },
          {
            "code" : "79395",
            "display" : "Keratoderma hereditarium mutilans with ichthyosis"
          },
          {
            "code" : "79396",
            "display" : "Autosomal dominant generalized epidermolysis bullosa simplex, severe form"
          },
          {
            "code" : "79397",
            "display" : "Epidermolysis bullosa simplex with mottled pigmentation"
          },
          {
            "code" : "79399",
            "display" : "Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form"
          },
          {
            "code" : "794",
            "display" : "Saethre-Chotzen syndrome"
          },
          {
            "code" : "79400",
            "display" : "Localized epidermolysis bullosa simplex"
          },
          {
            "code" : "79401",
            "display" : "PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement"
          },
          {
            "code" : "79402",
            "display" : "Intermediate generalized junctional epidermolysis bullosa"
          },
          {
            "code" : "79403",
            "display" : "Junctional epidermolysis bullosa with pyloric atresia"
          },
          {
            "code" : "79404",
            "display" : "Severe generalized junctional epidermolysis bullosa"
          },
          {
            "code" : "79405",
            "display" : "Junctional epidermolysis bullosa inversa"
          },
          {
            "code" : "79406",
            "display" : "Late-onset junctional epidermolysis bullosa"
          },
          {
            "code" : "79408",
            "display" : "Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form"
          },
          {
            "code" : "79409",
            "display" : "Recessive dystrophic epidermolysis bullosa inversa"
          },
          {
            "code" : "79410",
            "display" : "Localized dystrophic epidermolysis bullosa, pretibial form"
          },
          {
            "code" : "79411",
            "display" : "Self-improving dystrophic epidermolysis bullosa"
          },
          {
            "code" : "79414",
            "display" : "Woolly hair nevus"
          },
          {
            "code" : "79430",
            "display" : "Hermansky-Pudlak syndrome"
          },
          {
            "code" : "79431",
            "display" : "Oculocutaneous albinism type 1A"
          },
          {
            "code" : "79432",
            "display" : "Oculocutaneous albinism type 2"
          },
          {
            "code" : "79433",
            "display" : "Oculocutaneous albinism type 3"
          },
          {
            "code" : "79434",
            "display" : "Oculocutaneous albinism type 1B"
          },
          {
            "code" : "79435",
            "display" : "Oculocutaneous albinism type 4"
          },
          {
            "code" : "79443",
            "display" : "Pseudohypoparathyroidism type 1A"
          },
          {
            "code" : "79444",
            "display" : "Pseudohypoparathyroidism type 1C"
          },
          {
            "code" : "79445",
            "display" : "Pseudopseudohypoparathyroidism"
          },
          {
            "code" : "79447",
            "display" : "X-linked lethal multiple pterygium syndrome"
          },
          {
            "code" : "79452",
            "display" : "Milroy disease"
          },
          {
            "code" : "79455",
            "display" : "Cutaneous mastocytoma"
          },
          {
            "code" : "79456",
            "display" : "Diffuse cutaneous mastocytosis"
          },
          {
            "code" : "79457",
            "display" : "Maculopapular cutaneous mastocytosis"
          },
          {
            "code" : "79466",
            "display" : "Inflammatory linear verrucous epidermal nevus"
          },
          {
            "code" : "79467",
            "display" : "Verrucous nevus"
          },
          {
            "code" : "79468",
            "display" : "Acanthokeratolytic verrucous nevus"
          },
          {
            "code" : "79473",
            "display" : "Porphyria variegata"
          },
          {
            "code" : "79474",
            "display" : "Atypical Werner syndrome"
          },
          {
            "code" : "79476",
            "display" : "Griscelli syndrome type 1"
          },
          {
            "code" : "79477",
            "display" : "Griscelli syndrome type 2"
          },
          {
            "code" : "79478",
            "display" : "Griscelli syndrome type 3"
          },
          {
            "code" : "79479",
            "display" : "Pemphigus vegetans"
          },
          {
            "code" : "79480",
            "display" : "Pemphigus erythematosus"
          },
          {
            "code" : "79481",
            "display" : "Pemphigus foliaceus"
          },
          {
            "code" : "79483",
            "display" : "Phakomatosis cesioflammea"
          },
          {
            "code" : "79484",
            "display" : "Phakomatosis cesiomarmorata"
          },
          {
            "code" : "79485",
            "display" : "Phakomatosis spilorosea"
          },
          {
            "code" : "79489",
            "display" : "Macrocystic lymphatic malformation"
          },
          {
            "code" : "79490",
            "display" : "Microcystic lymphatic malformation"
          },
          {
            "code" : "79492",
            "display" : "Pili gemini"
          },
          {
            "code" : "79493",
            "display" : "Brooke-Spiegler syndrome"
          },
          {
            "code" : "79495",
            "display" : "X-linked congenital generalized hypertrichosis"
          },
          {
            "code" : "79499",
            "display" : "Autosomal dominant deafness-onychodystrophy syndrome"
          },
          {
            "code" : "79500",
            "display" : "DOORS syndrome"
          },
          {
            "code" : "79501",
            "display" : "Punctate palmoplantar keratoderma type 1"
          },
          {
            "code" : "79502",
            "display" : "Punctate palmoplantar keratoderma type 2"
          },
          {
            "code" : "79503",
            "display" : "Ichthyosis hystrix of Curth-Macklin"
          },
          {
            "code" : "79506",
            "display" : "Cholesterol-ester transfer protein deficiency"
          },
          {
            "code" : "79507",
            "display" : "Hypotonia-failure to thrive-microcephaly syndrome"
          },
          {
            "code" : "796",
            "display" : "Sandhoff disease"
          },
          {
            "code" : "79643",
            "display" : "Autosomal recessive hyperinsulinism due to SUR1 deficiency"
          },
          {
            "code" : "79644",
            "display" : "Autosomal recessive hyperinsulinism due to Kir6.2 deficiency"
          },
          {
            "code" : "79651",
            "display" : "Mild hyperphenylalaninemia"
          },
          {
            "code" : "79665",
            "display" : "Gardner syndrome"
          },
          {
            "code" : "797",
            "display" : "Sarcoidosis"
          },
          {
            "code" : "798",
            "display" : "Schinzel-Giedion syndrome"
          },
          {
            "code" : "799",
            "display" : "Schizencephaly"
          },
          {
            "code" : "8",
            "display" : "47,XYY syndrome"
          },
          {
            "code" : "80",
            "display" : "Antiphospholipid syndrome"
          },
          {
            "code" : "800",
            "display" : "Schwartz-Jampel syndrome"
          },
          {
            "code" : "803",
            "display" : "Amyotrophic lateral sclerosis"
          },
          {
            "code" : "805",
            "display" : "Tuberous sclerosis complex"
          },
          {
            "code" : "806",
            "display" : "Scott syndrome"
          },
          {
            "code" : "808",
            "display" : "Seckel syndrome"
          },
          {
            "code" : "809",
            "display" : "Mixed connective tissue disease"
          },
          {
            "code" : "81",
            "display" : "Antisynthetase syndrome"
          },
          {
            "code" : "810",
            "display" : "Shigellosis"
          },
          {
            "code" : "811",
            "display" : "Shwachman-Diamond syndrome"
          },
          {
            "code" : "812",
            "display" : "Sialidosis type 1"
          },
          {
            "code" : "813",
            "display" : "Silver-Russell syndrome"
          },
          {
            "code" : "816",
            "display" : "Sjögren-Larsson syndrome"
          },
          {
            "code" : "818",
            "display" : "Smith-Lemli-Opitz syndrome"
          },
          {
            "code" : "819",
            "display" : "Smith-Magenis syndrome"
          },
          {
            "code" : "82",
            "display" : "Hereditary thrombophilia due to congenital antithrombin deficiency"
          },
          {
            "code" : "820",
            "display" : "Sneddon syndrome"
          },
          {
            "code" : "821",
            "display" : "Sotos syndrome"
          },
          {
            "code" : "822",
            "display" : "Hereditary spherocytosis"
          },
          {
            "code" : "824",
            "display" : "Primary myelofibrosis"
          },
          {
            "code" : "826",
            "display" : "Sporotrichosis"
          },
          {
            "code" : "827",
            "display" : "Stargardt disease"
          },
          {
            "code" : "828",
            "display" : "Stickler syndrome"
          },
          {
            "code" : "829",
            "display" : "Adult-onset Still disease"
          },
          {
            "code" : "83",
            "display" : "Antley-Bixler syndrome"
          },
          {
            "code" : "831",
            "display" : "Congenital cervical spinal stenosis"
          },
          {
            "code" : "832",
            "display" : "Succinyl-CoA:3-oxoacid CoA transferase deficiency"
          },
          {
            "code" : "833",
            "display" : "Encephalopathy due to sulfite oxidase deficiency"
          },
          {
            "code" : "83311",
            "display" : "Rocky Mountain spotted fever"
          },
          {
            "code" : "83312",
            "display" : "Rickettsialpox"
          },
          {
            "code" : "83313",
            "display" : "Boutonneuse fever"
          },
          {
            "code" : "83314",
            "display" : "Epidemic typhus"
          },
          {
            "code" : "83315",
            "display" : "Murine typhus"
          },
          {
            "code" : "83316",
            "display" : "Pseudotyphus of California"
          },
          {
            "code" : "83317",
            "display" : "Scrub typhus"
          },
          {
            "code" : "83330",
            "display" : "Proximal spinal muscular atrophy type 1"
          },
          {
            "code" : "834",
            "display" : "Free sialic acid storage disease"
          },
          {
            "code" : "83418",
            "display" : "Proximal spinal muscular atrophy type 2"
          },
          {
            "code" : "83419",
            "display" : "Proximal spinal muscular atrophy type 3"
          },
          {
            "code" : "83420",
            "display" : "Proximal spinal muscular atrophy type 4"
          },
          {
            "code" : "83450",
            "display" : "Regional odontodysplasia"
          },
          {
            "code" : "83451",
            "display" : "Florid cemento-osseous dysplasia"
          },
          {
            "code" : "83452",
            "display" : "Complex regional pain syndrome"
          },
          {
            "code" : "83453",
            "display" : "Vulvovaginal gingival syndrome"
          },
          {
            "code" : "83454",
            "display" : "Glomuvenous malformation"
          },
          {
            "code" : "83461",
            "display" : "Congenital primary aphakia"
          },
          {
            "code" : "83463",
            "display" : "Microtia"
          },
          {
            "code" : "83465",
            "display" : "Narcolepsy type 2"
          },
          {
            "code" : "83467",
            "display" : "Morvan syndrome"
          },
          {
            "code" : "83468",
            "display" : "Solitary bone cyst"
          },
          {
            "code" : "83469",
            "display" : "Desmoplastic small round cell tumor"
          },
          {
            "code" : "83471",
            "display" : "T-cell immunodeficiency with thymic aplasia"
          },
          {
            "code" : "83472",
            "display" : "CAMOS syndrome"
          },
          {
            "code" : "83473",
            "display" : "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"
          },
          {
            "code" : "83476",
            "display" : "West-Nile encephalitis"
          },
          {
            "code" : "83482",
            "display" : "Mycoplasma encephalitis"
          },
          {
            "code" : "83483",
            "display" : "La Crosse encephalitis"
          },
          {
            "code" : "83484",
            "display" : "St. Louis encephalitis"
          },
          {
            "code" : "83593",
            "display" : "Western equine encephalitis"
          },
          {
            "code" : "83594",
            "display" : "Eastern equine encephalitis"
          },
          {
            "code" : "83595",
            "display" : "Colorado tick fever"
          },
          {
            "code" : "83597",
            "display" : "Acute disseminated encephalomyelitis"
          },
          {
            "code" : "83600",
            "display" : "Encephalitis lethargica"
          },
          {
            "code" : "83601",
            "display" : "Steroid-responsive encephalopathy associated with autoimmune thyroiditis"
          },
          {
            "code" : "83616",
            "display" : "Rubella panencephalitis"
          },
          {
            "code" : "83617",
            "display" : "Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome"
          },
          {
            "code" : "83619",
            "display" : "Macrostomia-preauricular tags-external ophthalmoplegia syndrome"
          },
          {
            "code" : "83620",
            "display" : "Enteric anendocrinosis"
          },
          {
            "code" : "83628",
            "display" : "LUMBAR syndrome"
          },
          {
            "code" : "83629",
            "display" : "Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome"
          },
          {
            "code" : "83639",
            "display" : "Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency"
          },
          {
            "code" : "83642",
            "display" : "Microcytic anemia with liver iron overload"
          },
          {
            "code" : "838",
            "display" : "Susac syndrome"
          },
          {
            "code" : "839",
            "display" : "Congenital nephrotic syndrome, Finnish type"
          },
          {
            "code" : "84",
            "display" : "Fanconi anemia"
          },
          {
            "code" : "840",
            "display" : "Syringocystadenoma papilliferum"
          },
          {
            "code" : "84064",
            "display" : "Syndromic diarrhea"
          },
          {
            "code" : "84065",
            "display" : "Idiopathic malabsorption due to bile acid synthesis defects"
          },
          {
            "code" : "84081",
            "display" : "Senior-Boichis syndrome"
          },
          {
            "code" : "84085",
            "display" : "Hinman syndrome"
          },
          {
            "code" : "84087",
            "display" : "Collagen type III glomerulopathy"
          },
          {
            "code" : "84090",
            "display" : "Fibronectin glomerulopathy"
          },
          {
            "code" : "84093",
            "display" : "Hereditary thermosensitive neuropathy"
          },
          {
            "code" : "841",
            "display" : "Sebocystomatosis"
          },
          {
            "code" : "84132",
            "display" : "Desmin-related myopathy with Mallory body-like inclusions"
          },
          {
            "code" : "84142",
            "display" : "Isaacs syndrome"
          },
          {
            "code" : "842",
            "display" : "Testicular seminomatous germ cell tumor"
          },
          {
            "code" : "844",
            "display" : "Lown-Ganong-Levine syndrome"
          },
          {
            "code" : "845",
            "display" : "Tay-Sachs disease"
          },
          {
            "code" : "846",
            "display" : "Alpha-thalassemia"
          },
          {
            "code" : "847",
            "display" : "Alpha-thalassemia-X-linked intellectual disability syndrome"
          },
          {
            "code" : "848",
            "display" : "Beta-thalassemia"
          },
          {
            "code" : "849",
            "display" : "Glanzmann thrombasthenia"
          },
          {
            "code" : "851",
            "display" : "Paris-Trousseau thrombocytopenia"
          },
          {
            "code" : "85110",
            "display" : "Familial encephalopathy with neuroserpin inclusion bodies"
          },
          {
            "code" : "85112",
            "display" : "Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome"
          },
          {
            "code" : "85128",
            "display" : "Bothnia retinal dystrophy"
          },
          {
            "code" : "85136",
            "display" : "Cystic leukoencephalopathy without megalencephaly"
          },
          {
            "code" : "85138",
            "display" : "Addison disease"
          },
          {
            "code" : "85146",
            "display" : "Neurogenic scapuloperoneal syndrome, Kaeser type"
          },
          {
            "code" : "85162",
            "display" : "Facial onset sensory and motor neuronopathy"
          },
          {
            "code" : "85163",
            "display" : "Hypomyelination-congenital cataract syndrome"
          },
          {
            "code" : "85164",
            "display" : "Camptodactyly-tall stature-scoliosis-hearing loss syndrome"
          },
          {
            "code" : "85165",
            "display" : "Severe achondroplasia-developmental delay-acanthosis nigricans syndrome"
          },
          {
            "code" : "85166",
            "display" : "Platyspondylic dysplasia, Torrance type"
          },
          {
            "code" : "85167",
            "display" : "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome"
          },
          {
            "code" : "85168",
            "display" : "Craniofacial conodysplasia"
          },
          {
            "code" : "85169",
            "display" : "Familial digital arthropathy-brachydactyly"
          },
          {
            "code" : "85170",
            "display" : "Mesomelic dysplasia, Savarirayan type"
          },
          {
            "code" : "85172",
            "display" : "Microcephalic osteodysplastic dysplasia, Saul-Wilson type"
          },
          {
            "code" : "85173",
            "display" : "IMAGe syndrome"
          },
          {
            "code" : "85174",
            "display" : "Pseudodiastrophic dysplasia"
          },
          {
            "code" : "85175",
            "display" : "Astley-Kendall dysplasia"
          },
          {
            "code" : "85179",
            "display" : "Infantile osteopetrosis with neuroaxonal dysplasia"
          },
          {
            "code" : "85182",
            "display" : "Diaphyseal medullary stenosis-bone malignancy syndrome"
          },
          {
            "code" : "85184",
            "display" : "Craniometadiaphyseal dysplasia, wormian bone type"
          },
          {
            "code" : "85186",
            "display" : "Endosteal sclerosis-cerebellar hypoplasia syndrome"
          },
          {
            "code" : "85188",
            "display" : "Metaphyseal dysplasia, Braun-Tinschert type"
          },
          {
            "code" : "85191",
            "display" : "Singleton-Merten dysplasia"
          },
          {
            "code" : "85192",
            "display" : "Calvarial doughnut lesions-bone fragility syndrome"
          },
          {
            "code" : "85193",
            "display" : "Idiopathic juvenile osteoporosis"
          },
          {
            "code" : "85194",
            "display" : "Spondylo-ocular syndrome"
          },
          {
            "code" : "85195",
            "display" : "Familial expansile osteolysis"
          },
          {
            "code" : "85197",
            "display" : "Genochondromatosis type 1"
          },
          {
            "code" : "85198",
            "display" : "Dysspondyloenchondromatosis"
          },
          {
            "code" : "85199",
            "display" : "Craniosynostosis-anal anomalies-porokeratosis syndrome"
          },
          {
            "code" : "852",
            "display" : "X-linked thrombocytopenia with normal platelets"
          },
          {
            "code" : "85200",
            "display" : "Ischiovertebral syndrome"
          },
          {
            "code" : "85201",
            "display" : "Genitopatellar syndrome"
          },
          {
            "code" : "85202",
            "display" : "Keutel syndrome"
          },
          {
            "code" : "85203",
            "display" : "Acropectoral syndrome"
          },
          {
            "code" : "85212",
            "display" : "Fetal Gaucher disease"
          },
          {
            "code" : "85273",
            "display" : "X-linked intellectual disability, Abidi type"
          },
          {
            "code" : "85274",
            "display" : "Syndromic X-linked intellectual disability 7"
          },
          {
            "code" : "85275",
            "display" : "Microphthalmia-ankyloblepharon-intellectual disability syndrome"
          },
          {
            "code" : "85276",
            "display" : "X-linked intellectual disability, Armfield type"
          },
          {
            "code" : "85277",
            "display" : "X-linked intellectual disability, Cantagrel type"
          },
          {
            "code" : "85278",
            "display" : "Christianson syndrome"
          },
          {
            "code" : "85279",
            "display" : "KDM5C-related syndromic X-linked intellectual disability"
          },
          {
            "code" : "85280",
            "display" : "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome"
          },
          {
            "code" : "85282",
            "display" : "MEHMO syndrome"
          },
          {
            "code" : "85283",
            "display" : "X-linked intellectual disability, Miles-Carpenter type"
          },
          {
            "code" : "85284",
            "display" : "BRESEK syndrome"
          },
          {
            "code" : "85285",
            "display" : "X-linked intellectual disability, Schimke type"
          },
          {
            "code" : "85286",
            "display" : "X-linked intellectual disability, Shashi type"
          },
          {
            "code" : "85287",
            "display" : "X-linked intellectual disability, Siderius type"
          },
          {
            "code" : "85288",
            "display" : "X-linked intellectual disability, Stocco Dos Santos type"
          },
          {
            "code" : "85290",
            "display" : "X-linked intellectual disability, Wilson type"
          },
          {
            "code" : "85292",
            "display" : "X-linked spinocerebellar ataxia type 4"
          },
          {
            "code" : "85293",
            "display" : "X-linked intellectual disability, Cabezas type"
          },
          {
            "code" : "85294",
            "display" : "X-linked epilepsy-learning disabilities-behavior disorders syndrome"
          },
          {
            "code" : "85295",
            "display" : "HSD10 disease, atypical type"
          },
          {
            "code" : "85297",
            "display" : "X-linked spinocerebellar ataxia type 3"
          },
          {
            "code" : "853",
            "display" : "Fetal and neonatal alloimmune thrombocytopenia"
          },
          {
            "code" : "85317",
            "display" : "X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome"
          },
          {
            "code" : "85319",
            "display" : "X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome"
          },
          {
            "code" : "85320",
            "display" : "X-linked intellectual disability-macrocephaly-macroorchidism syndrome"
          },
          {
            "code" : "85321",
            "display" : "Deafness-intellectual disability syndrome, Martin-Probst type"
          },
          {
            "code" : "85322",
            "display" : "X-linked intellectual disability, Pai type"
          },
          {
            "code" : "85323",
            "display" : "X-linked intellectual disability, Seemanova type"
          },
          {
            "code" : "85324",
            "display" : "X-linked intellectual disability, Shrimpton type"
          },
          {
            "code" : "85325",
            "display" : "X-linked intellectual disability, Stevenson type"
          },
          {
            "code" : "85326",
            "display" : "X-linked intellectual disability, Stoll type"
          },
          {
            "code" : "85327",
            "display" : "X-linked intellectual disability-acromegaly-hyperactivity syndrome"
          },
          {
            "code" : "85329",
            "display" : "X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome"
          },
          {
            "code" : "85332",
            "display" : "X-linked intellectual disability-retinitis pigmentosa syndrome"
          },
          {
            "code" : "85334",
            "display" : "X-linked neurodegenerative syndrome, Bertini type"
          },
          {
            "code" : "85335",
            "display" : "Fried syndrome"
          },
          {
            "code" : "85336",
            "display" : "X-linked neurodegenerative syndrome, Hamel type"
          },
          {
            "code" : "85338",
            "display" : "X-linked intellectual disability-ataxia-apraxia syndrome"
          },
          {
            "code" : "854",
            "display" : "Primitive portal vein thrombosis"
          },
          {
            "code" : "85408",
            "display" : "Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis"
          },
          {
            "code" : "85410",
            "display" : "Oligoarticular juvenile idiopathic arthritis"
          },
          {
            "code" : "85414",
            "display" : "Systemic-onset juvenile idiopathic arthritis"
          },
          {
            "code" : "85435",
            "display" : "Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis"
          },
          {
            "code" : "85436",
            "display" : "Psoriasis-related juvenile idiopathic arthritis"
          },
          {
            "code" : "85438",
            "display" : "Enthesitis-related juvenile idiopathic arthritis"
          },
          {
            "code" : "85442",
            "display" : "Short stature-pituitary and cerebellar defects-small sella turcica syndrome"
          },
          {
            "code" : "85443",
            "display" : "AL amyloidosis"
          },
          {
            "code" : "85445",
            "display" : "AA amyloidosis"
          },
          {
            "code" : "85446",
            "display" : "Wild type ABeta2M amyloidosis"
          },
          {
            "code" : "85447",
            "display" : "ATTRV30M amyloidosis"
          },
          {
            "code" : "85448",
            "display" : "AGel amyloidosis"
          },
          {
            "code" : "85450",
            "display" : "Hereditary amyloidosis with primary renal involvement"
          },
          {
            "code" : "85451",
            "display" : "ATTRV122I amyloidosis"
          },
          {
            "code" : "85453",
            "display" : "X-linked reticulate pigmentary disorder"
          },
          {
            "code" : "85458",
            "display" : "Hereditary cerebral hemorrhage with amyloidosis"
          },
          {
            "code" : "857",
            "display" : "Townes-Brocks syndrome"
          },
          {
            "code" : "858",
            "display" : "Congenital toxoplasmosis"
          },
          {
            "code" : "859",
            "display" : "Transcobalamin deficiency"
          },
          {
            "code" : "86",
            "display" : "Familial abdominal aortic aneurysm"
          },
          {
            "code" : "860",
            "display" : "Congenitally uncorrected transposition of the great arteries"
          },
          {
            "code" : "861",
            "display" : "Treacher-Collins syndrome"
          },
          {
            "code" : "863",
            "display" : "Trichinellosis"
          },
          {
            "code" : "86309",
            "display" : "DPAGT1-CDG"
          },
          {
            "code" : "864",
            "display" : "Trichofolliculoma"
          },
          {
            "code" : "867",
            "display" : "Familial multiple trichoepithelioma"
          },
          {
            "code" : "86788",
            "display" : "X-linked severe congenital neutropenia"
          },
          {
            "code" : "86789",
            "display" : "Patella aplasia/hypoplasia"
          },
          {
            "code" : "86797",
            "display" : "Atypical lichen myxedematosus"
          },
          {
            "code" : "868",
            "display" : "Triose phosphate-isomerase deficiency"
          },
          {
            "code" : "86812",
            "display" : "POMT1-related limb-girdle muscular dystrophy R11"
          },
          {
            "code" : "86813",
            "display" : "Helicoid peripapillary chorioretinal degeneration"
          },
          {
            "code" : "86814",
            "display" : "Benign adult familial myoclonic epilepsy"
          },
          {
            "code" : "86815",
            "display" : "Aplasia of lacrimal and salivary glands"
          },
          {
            "code" : "86816",
            "display" : "Congenital analbuminemia"
          },
          {
            "code" : "86817",
            "display" : "Hemolytic anemia due to adenylate kinase deficiency"
          },
          {
            "code" : "86818",
            "display" : "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome"
          },
          {
            "code" : "86819",
            "display" : "Atrichia with papular lesions"
          },
          {
            "code" : "86820",
            "display" : "Familial avascular necrosis of femoral head"
          },
          {
            "code" : "86821",
            "display" : "Lissencephaly type 3-familial fetal akinesia sequence syndrome"
          },
          {
            "code" : "86822",
            "display" : "Lissencephaly type 3-metacarpal bone dysplasia syndrome"
          },
          {
            "code" : "86829",
            "display" : "Chronic neutrophilic leukemia"
          },
          {
            "code" : "86830",
            "display" : "Chronic myeloproliferative disease, unclassifiable"
          },
          {
            "code" : "86834",
            "display" : "Juvenile myelomonocytic leukemia"
          },
          {
            "code" : "86839",
            "display" : "Refractory anemia with excess blasts"
          },
          {
            "code" : "86841",
            "display" : "Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality"
          },
          {
            "code" : "86843",
            "display" : "Acute panmyelosis with myelofibrosis"
          },
          {
            "code" : "86845",
            "display" : "Acute myeloid leukaemia with myelodysplasia-related features"
          },
          {
            "code" : "86849",
            "display" : "Acute basophilic leukemia"
          },
          {
            "code" : "86850",
            "display" : "Myeloid sarcoma"
          },
          {
            "code" : "86852",
            "display" : "B-cell prolymphocytic leukemia"
          },
          {
            "code" : "86854",
            "display" : "Splenic marginal zone lymphoma"
          },
          {
            "code" : "86855",
            "display" : "Plasmacytoma"
          },
          {
            "code" : "86861",
            "display" : "Non-amyloid monoclonal immunoglobulin deposition disease"
          },
          {
            "code" : "86864",
            "display" : "Heavy chain disease"
          },
          {
            "code" : "86867",
            "display" : "Nodal marginal zone B-cell lymphoma"
          },
          {
            "code" : "86869",
            "display" : "Lymphomatoid granulomatosis"
          },
          {
            "code" : "86870",
            "display" : "Blastic plasmacytoid dendritic cell neoplasm"
          },
          {
            "code" : "86871",
            "display" : "T-cell prolymphocytic leukemia"
          },
          {
            "code" : "86872",
            "display" : "T-cell large granular lymphocyte leukemia"
          },
          {
            "code" : "86873",
            "display" : "Aggressive NK-cell leukemia"
          },
          {
            "code" : "86875",
            "display" : "Adult T-cell leukemia/lymphoma"
          },
          {
            "code" : "86879",
            "display" : "Extranodal nasal NK/T cell lymphoma"
          },
          {
            "code" : "86880",
            "display" : "Enteropathy-associated T-cell lymphoma"
          },
          {
            "code" : "86882",
            "display" : "Hepatosplenic T-cell lymphoma"
          },
          {
            "code" : "86884",
            "display" : "Subcutaneous panniculitis-like T-cell lymphoma"
          },
          {
            "code" : "86885",
            "display" : "Primary cutaneous peripheral T-cell lymphoma not otherwise specified"
          },
          {
            "code" : "86886",
            "display" : "Angioimmunoblastic T-cell lymphoma"
          },
          {
            "code" : "86893",
            "display" : "Nodular lymphocyte predominant Hodgkin lymphoma"
          },
          {
            "code" : "86896",
            "display" : "Histiocytic sarcoma"
          },
          {
            "code" : "86897",
            "display" : "Langerhans cell sarcoma"
          },
          {
            "code" : "869",
            "display" : "Triple A syndrome"
          },
          {
            "code" : "86900",
            "display" : "Interdigitating dendritic cell sarcoma"
          },
          {
            "code" : "86902",
            "display" : "Follicular dendritic cell sarcoma"
          },
          {
            "code" : "86903",
            "display" : "Dendritic cell sarcoma not otherwise specified"
          },
          {
            "code" : "86904",
            "display" : "Methotrexate-associated lymphoproliferative disorders"
          },
          {
            "code" : "86906",
            "display" : "Hypothalamic hamartomas with gelastic seizures"
          },
          {
            "code" : "86908",
            "display" : "Idiopathic hemiconvulsion-hemiplegia syndrome"
          },
          {
            "code" : "86909",
            "display" : "Myoclonic epilepsy of infancy"
          },
          {
            "code" : "86911",
            "display" : "Epilepsy with myoclonic absences"
          },
          {
            "code" : "86913",
            "display" : "Myoclonic epilepsy in non-progressive encephalopathies"
          },
          {
            "code" : "86914",
            "display" : "Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome"
          },
          {
            "code" : "86915",
            "display" : "Lymphedema-atrial septal defects-facial changes syndrome"
          },
          {
            "code" : "86918",
            "display" : "Diffuse palmoplantar keratoderma-acrocyanosis syndrome"
          },
          {
            "code" : "86919",
            "display" : "Keratosis palmaris et plantaris-clinodactyly syndrome"
          },
          {
            "code" : "86920",
            "display" : "Dermatopathia pigmentosa reticularis"
          },
          {
            "code" : "86923",
            "display" : "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type"
          },
          {
            "code" : "87",
            "display" : "Apert syndrome"
          },
          {
            "code" : "870",
            "display" : "Down syndrome"
          },
          {
            "code" : "871",
            "display" : "Familial progressive cardiac conduction defect"
          },
          {
            "code" : "873",
            "display" : "Desmoid tumor"
          },
          {
            "code" : "874",
            "display" : "Primary adult heart tumor"
          },
          {
            "code" : "875",
            "display" : "Primary pediatric heart tumor"
          },
          {
            "code" : "87503",
            "display" : "Mal de Meleda"
          },
          {
            "code" : "876",
            "display" : "Yolk sac tumor"
          },
          {
            "code" : "87876",
            "display" : "Sialidosis type 2"
          },
          {
            "code" : "87884",
            "display" : "Non-syndromic genetic deafness"
          },
          {
            "code" : "879",
            "display" : "Tungiasis"
          },
          {
            "code" : "88",
            "display" : "Idiopathic aplastic anemia"
          },
          {
            "code" : "881",
            "display" : "Turner syndrome"
          },
          {
            "code" : "882",
            "display" : "Tyrosinemia type 1"
          },
          {
            "code" : "883",
            "display" : "Extragonadal teratoma"
          },
          {
            "code" : "884",
            "display" : "Tetrasomy 12p"
          },
          {
            "code" : "886",
            "display" : "Usher syndrome"
          },
          {
            "code" : "88616",
            "display" : "Autosomal recessive non-syndromic intellectual disability"
          },
          {
            "code" : "88618",
            "display" : "S-adenosylhomocysteine hydrolase deficiency"
          },
          {
            "code" : "88619",
            "display" : "Familial acute necrotizing encephalopathy"
          },
          {
            "code" : "88620",
            "display" : "Isolated congenital anosmia"
          },
          {
            "code" : "88621",
            "display" : "Ichthyosis-prematurity syndrome"
          },
          {
            "code" : "88628",
            "display" : "Posterior column ataxia-retinitis pigmentosa syndrome"
          },
          {
            "code" : "88629",
            "display" : "Tritanopia"
          },
          {
            "code" : "88630",
            "display" : "Terminal osseous dysplasia-pigmentary defects syndrome"
          },
          {
            "code" : "88633",
            "display" : "Superior limbic keratoconjunctivitis"
          },
          {
            "code" : "88635",
            "display" : "Vacuolar myopathy with sarcoplasmic reticulum protein aggregates"
          },
          {
            "code" : "88637",
            "display" : "Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"
          },
          {
            "code" : "88639",
            "display" : "Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency"
          },
          {
            "code" : "88642",
            "display" : "Congenital insensitivity to pain-anosmia-neuropathic arthropathy"
          },
          {
            "code" : "88643",
            "display" : "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome"
          },
          {
            "code" : "88644",
            "display" : "Autosomal recessive ataxia, Beauce type"
          },
          {
            "code" : "88659",
            "display" : "Autosomal dominant progressive nephropathy with hypertension"
          },
          {
            "code" : "88660",
            "display" : "Hypertension due to gain-of-function mutations in the mineralocorticoid receptor"
          },
          {
            "code" : "88661",
            "display" : "Amelogenesis imperfecta"
          },
          {
            "code" : "887",
            "display" : "VACTERL/VATER association"
          },
          {
            "code" : "888",
            "display" : "Van der Woude syndrome"
          },
          {
            "code" : "889",
            "display" : "Cutaneous small vessel vasculitis"
          },
          {
            "code" : "88917",
            "display" : "X-linked Alport syndrome"
          },
          {
            "code" : "88918",
            "display" : "Autosomal dominant Alport syndrome"
          },
          {
            "code" : "88919",
            "display" : "Autosomal recessive Alport syndrome"
          },
          {
            "code" : "88924",
            "display" : "Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis"
          },
          {
            "code" : "88938",
            "display" : "Pseudohypoaldosteronism type 2A"
          },
          {
            "code" : "88939",
            "display" : "Pseudohypoaldosteronism type 2B"
          },
          {
            "code" : "88940",
            "display" : "Pseudohypoaldosteronism type 2C"
          },
          {
            "code" : "88949",
            "display" : "MUC1-related autosomal dominant tubulointerstitial kidney disease"
          },
          {
            "code" : "88950",
            "display" : "UMOD-related autosomal dominant tubulointerstitial kidney disease"
          },
          {
            "code" : "890",
            "display" : "Hepatic veno-occlusive disease"
          },
          {
            "code" : "891",
            "display" : "Familial exudative vitreoretinopathy"
          },
          {
            "code" : "892",
            "display" : "Von Hippel-Lindau disease"
          },
          {
            "code" : "893",
            "display" : "WAGR syndrome"
          },
          {
            "code" : "894",
            "display" : "Waardenburg syndrome type 1"
          },
          {
            "code" : "895",
            "display" : "Waardenburg syndrome type 2"
          },
          {
            "code" : "896",
            "display" : "Waardenburg syndrome type 3"
          },
          {
            "code" : "897",
            "display" : "Waardenburg-Shah syndrome"
          },
          {
            "code" : "898",
            "display" : "Wagner disease"
          },
          {
            "code" : "89838",
            "display" : "Autosomal recessive generalized epidermolysis bullosa simplex"
          },
          {
            "code" : "89842",
            "display" : "Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form"
          },
          {
            "code" : "89843",
            "display" : "Dystrophic epidermolysis bullosa pruriginosa"
          },
          {
            "code" : "89844",
            "display" : "Lissencephaly syndrome, Norman-Roberts type"
          },
          {
            "code" : "899",
            "display" : "Walker-Warburg syndrome"
          },
          {
            "code" : "89936",
            "display" : "X-linked hypophosphatemia"
          },
          {
            "code" : "89937",
            "display" : "Autosomal dominant hypophosphatemic rickets"
          },
          {
            "code" : "89938",
            "display" : "Bartter syndrome type 4"
          },
          {
            "code" : "9",
            "display" : "Tetrasomy X"
          },
          {
            "code" : "90",
            "display" : "Argininemia"
          },
          {
            "code" : "900",
            "display" : "Granulomatosis with polyangiitis"
          },
          {
            "code" : "90000",
            "display" : "Erythema elevatum diutinum"
          },
          {
            "code" : "90001",
            "display" : "X-linked cone dysfunction syndrome with myopia"
          },
          {
            "code" : "90002",
            "display" : "Undifferentiated connective tissue syndrome"
          },
          {
            "code" : "90003",
            "display" : "Inflammatory pseudotumor of the liver"
          },
          {
            "code" : "90020",
            "display" : "Parkinson-dementia complex of Guam"
          },
          {
            "code" : "90021",
            "display" : "Radiation myelitis"
          },
          {
            "code" : "90023",
            "display" : "Primary immunodeficiency syndrome due to LAMTOR2 deficiency"
          },
          {
            "code" : "90024",
            "display" : "Deafness with labyrinthine aplasia, microtia, and microdontia"
          },
          {
            "code" : "90026",
            "display" : "Primary erythromelalgia"
          },
          {
            "code" : "90030",
            "display" : "Hemolytic anemia due to glutathione reductase deficiency"
          },
          {
            "code" : "90031",
            "display" : "Non-spherocytic hemolytic anemia due to hexokinase deficiency"
          },
          {
            "code" : "90033",
            "display" : "Autoimmune hemolytic anemia, warm type"
          },
          {
            "code" : "90035",
            "display" : "Paroxysmal cold hemoglobinuria"
          },
          {
            "code" : "90036",
            "display" : "Mixed-type autoimmune hemolytic anemia"
          },
          {
            "code" : "90037",
            "display" : "Drug-induced autoimmune hemolytic anemia"
          },
          {
            "code" : "90038",
            "display" : "Shiga toxin-associated hemolytic uremic syndrome"
          },
          {
            "code" : "90039",
            "display" : "Hemoglobin D disease"
          },
          {
            "code" : "90041",
            "display" : "Gaisböck syndrome"
          },
          {
            "code" : "90042",
            "display" : "Primary familial polycythemia"
          },
          {
            "code" : "90044",
            "display" : "Familial pseudohyperkalemia"
          },
          {
            "code" : "90045",
            "display" : "Hereditary folate malabsorption"
          },
          {
            "code" : "90050",
            "display" : "Retinopathy of prematurity"
          },
          {
            "code" : "90051",
            "display" : "Sepsis in premature infants"
          },
          {
            "code" : "90052",
            "display" : "Recurrent hepatitis C virus induced liver disease in liver transplant recipients"
          },
          {
            "code" : "90053",
            "display" : "Complications after hematopoietic stem cell transplantation"
          },
          {
            "code" : "90056",
            "display" : "Moderate and severe traumatic brain injury"
          },
          {
            "code" : "90058",
            "display" : "Spinal cord injury"
          },
          {
            "code" : "90059",
            "display" : "Sudden sensorineural hearing loss"
          },
          {
            "code" : "90060",
            "display" : "Diffuse alveolar hemorrhage"
          },
          {
            "code" : "90062",
            "display" : "Acute liver failure"
          },
          {
            "code" : "90064",
            "display" : "Acute peripheral arterial occlusion"
          },
          {
            "code" : "90065",
            "display" : "Acquired aneurysmal subarachnoid hemorrhage"
          },
          {
            "code" : "90066",
            "display" : "Pneumonia caused by Pseudomonas aeruginosa infection"
          },
          {
            "code" : "90068",
            "display" : "Cocaine intoxication"
          },
          {
            "code" : "90069",
            "display" : "Systemic monochloroacetate poisoning"
          },
          {
            "code" : "90073",
            "display" : "Hepatitis B reinfection following liver transplantation"
          },
          {
            "code" : "90076",
            "display" : "Partial deep dermal and full thickness burns"
          },
          {
            "code" : "90078",
            "display" : "Invasive infections due to vancomycin-resistant enterococci"
          },
          {
            "code" : "90080",
            "display" : "Scarring in glaucoma filtration surgical procedures"
          },
          {
            "code" : "90081",
            "display" : "AIDS wasting syndrome"
          },
          {
            "code" : "901",
            "display" : "Wells syndrome"
          },
          {
            "code" : "90103",
            "display" : "Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome"
          },
          {
            "code" : "90117",
            "display" : "Hereditary motor and sensory neuropathy, Okinawa type"
          },
          {
            "code" : "90118",
            "display" : "Severe early-onset axonal neuropathy due to MFN2 deficiency"
          },
          {
            "code" : "90119",
            "display" : "Hereditary motor and sensory neuropathy with acrodystrophy"
          },
          {
            "code" : "90120",
            "display" : "Hereditary motor and sensory neuropathy type 6"
          },
          {
            "code" : "90153",
            "display" : "Mandibuloacral dysplasia with type A lipodystrophy"
          },
          {
            "code" : "90154",
            "display" : "Mandibuloacral dysplasia with type B lipodystrophy"
          },
          {
            "code" : "90156",
            "display" : "Centrifugal lipodystrophy"
          },
          {
            "code" : "90157",
            "display" : "Drug-induced localized lipodystrophy"
          },
          {
            "code" : "90158",
            "display" : "Idiopathic localized lipodystrophy"
          },
          {
            "code" : "90159",
            "display" : "Panniculitis-induced localized lipodystrophy"
          },
          {
            "code" : "90160",
            "display" : "Pressure-induced localized lipoatrophy"
          },
          {
            "code" : "90186",
            "display" : "Meige disease"
          },
          {
            "code" : "902",
            "display" : "Werner syndrome"
          },
          {
            "code" : "90280",
            "display" : "Chilblain lupus"
          },
          {
            "code" : "90281",
            "display" : "Discoid lupus erythematosus"
          },
          {
            "code" : "90282",
            "display" : "Hypertrophic or verrucous lupus erythematosus"
          },
          {
            "code" : "90283",
            "display" : "Lupus erythematosus tumidus"
          },
          {
            "code" : "90285",
            "display" : "Lupus erythematosus panniculitis"
          },
          {
            "code" : "90289",
            "display" : "Localized scleroderma"
          },
          {
            "code" : "90291",
            "display" : "Systemic sclerosis"
          },
          {
            "code" : "903",
            "display" : "Von Willebrand disease"
          },
          {
            "code" : "90301",
            "display" : "Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome"
          },
          {
            "code" : "90307",
            "display" : "Parkes Weber syndrome"
          },
          {
            "code" : "90308",
            "display" : "Klippel-Trénaunay syndrome"
          },
          {
            "code" : "90321",
            "display" : "Cockayne syndrome type 1"
          },
          {
            "code" : "90322",
            "display" : "Cockayne syndrome type 2"
          },
          {
            "code" : "90324",
            "display" : "Cockayne syndrome type 3"
          },
          {
            "code" : "90340",
            "display" : "Blau syndrome"
          },
          {
            "code" : "90342",
            "display" : "Xeroderma pigmentosum variant"
          },
          {
            "code" : "90348",
            "display" : "Autosomal dominant cutis laxa"
          },
          {
            "code" : "90349",
            "display" : "Autosomal recessive cutis laxa type 1"
          },
          {
            "code" : "90354",
            "display" : "Brittle cornea syndrome"
          },
          {
            "code" : "90362",
            "display" : "Primary intestinal lymphangiectasia"
          },
          {
            "code" : "90363",
            "display" : "Secondary intestinal lymphangiectasia"
          },
          {
            "code" : "90368",
            "display" : "Hypotrichosis simplex of the scalp"
          },
          {
            "code" : "90389",
            "display" : "Telangiectasia macularis eruptiva perstans"
          },
          {
            "code" : "90390",
            "display" : "Anonychia-onychodystrophy syndrome"
          },
          {
            "code" : "90393",
            "display" : "Nodular lichen myxedematosus"
          },
          {
            "code" : "90394",
            "display" : "Discrete papular lichen myxedematosus"
          },
          {
            "code" : "90395",
            "display" : "Papular mucinosis of infancy"
          },
          {
            "code" : "90396",
            "display" : "Acral persistent papular mucinosis"
          },
          {
            "code" : "90397",
            "display" : "Self-healing papular mucinosis"
          },
          {
            "code" : "90398",
            "display" : "Localized lichen myxedematosus with mixed features of different subtypes"
          },
          {
            "code" : "90399",
            "display" : "Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms"
          },
          {
            "code" : "904",
            "display" : "Williams syndrome"
          },
          {
            "code" : "90400",
            "display" : "Scleromyxedema without monoclonal gammopathy"
          },
          {
            "code" : "905",
            "display" : "Wilson disease"
          },
          {
            "code" : "906",
            "display" : "Wiskott-Aldrich syndrome"
          },
          {
            "code" : "90625",
            "display" : "Rare X-linked non-syndromic sensorineural deafness type DFN"
          },
          {
            "code" : "90635",
            "display" : "Rare autosomal dominant non-syndromic sensorineural deafness type DFNA"
          },
          {
            "code" : "90636",
            "display" : "Rare autosomal recessive non-syndromic sensorineural deafness type DFNB"
          },
          {
            "code" : "90641",
            "display" : "Rare mitochondrial non-syndromic sensorineural deafness"
          },
          {
            "code" : "90646",
            "display" : "Deafness-hypogonadism syndrome"
          },
          {
            "code" : "90647",
            "display" : "Jervell and Lange-Nielsen syndrome"
          },
          {
            "code" : "90650",
            "display" : "Otopalatodigital syndrome type 1"
          },
          {
            "code" : "90652",
            "display" : "Otopalatodigital syndrome type 2"
          },
          {
            "code" : "90653",
            "display" : "Stickler syndrome type 1"
          },
          {
            "code" : "90654",
            "display" : "Stickler syndrome type 2"
          },
          {
            "code" : "90658",
            "display" : "Charcot-Marie-Tooth disease type 1E"
          },
          {
            "code" : "90673",
            "display" : "Hypothyroidism due to TSH receptor mutations"
          },
          {
            "code" : "90674",
            "display" : "Isolated thyroid-stimulating hormone deficiency"
          },
          {
            "code" : "90695",
            "display" : "Non-acquired panhypopituitarism"
          },
          {
            "code" : "90790",
            "display" : "Congenital lipoid adrenal hyperplasia due to STAR deficency"
          },
          {
            "code" : "90791",
            "display" : "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency"
          },
          {
            "code" : "90793",
            "display" : "Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency"
          },
          {
            "code" : "90794",
            "display" : "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency"
          },
          {
            "code" : "90795",
            "display" : "Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency"
          },
          {
            "code" : "90796",
            "display" : "46,XY difference of sex development due to isolated 17,20-lyase deficiency"
          },
          {
            "code" : "90797",
            "display" : "Partial androgen insensitivity syndrome"
          },
          {
            "code" : "908",
            "display" : "Fragile X syndrome"
          },
          {
            "code" : "909",
            "display" : "Cerebrotendinous xanthomatosis"
          },
          {
            "code" : "91",
            "display" : "Aromatase deficiency"
          },
          {
            "code" : "910",
            "display" : "Xeroderma pigmentosum"
          },
          {
            "code" : "911",
            "display" : "Combined immunodeficiency due to ZAP70 deficiency"
          },
          {
            "code" : "91127",
            "display" : "Adenovirus infection in immunocompromised patients"
          },
          {
            "code" : "91130",
            "display" : "Cardiomyopathy-hypotonia-lactic acidosis syndrome"
          },
          {
            "code" : "91131",
            "display" : "DK1-CDG"
          },
          {
            "code" : "91132",
            "display" : "Ichthyosis-hypotrichosis syndrome"
          },
          {
            "code" : "91135",
            "display" : "Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency"
          },
          {
            "code" : "91136",
            "display" : "Acquired monoclonal Ig light chain-associated Fanconi syndrome"
          },
          {
            "code" : "91138",
            "display" : "Cryoglobulinemic vasculitis"
          },
          {
            "code" : "91139",
            "display" : "Simple cryoglobulinemia"
          },
          {
            "code" : "91140",
            "display" : "Unspecified juvenile idiopathic arthritis"
          },
          {
            "code" : "912",
            "display" : "Zellweger syndrome"
          },
          {
            "code" : "913",
            "display" : "Zollinger-Ellison syndrome"
          },
          {
            "code" : "91347",
            "display" : "TSH-secreting pituitary adenoma"
          },
          {
            "code" : "91348",
            "display" : "Functioning gonadotropic adenoma"
          },
          {
            "code" : "91349",
            "display" : "Non-functioning pituitary adenoma"
          },
          {
            "code" : "91350",
            "display" : "Pituitary deficiency due to Rathke cleft cysts"
          },
          {
            "code" : "91351",
            "display" : "Pituitary dermoid and epidermoid cysts"
          },
          {
            "code" : "91352",
            "display" : "Germinoma of the central nervous system"
          },
          {
            "code" : "91354",
            "display" : "Pituitary deficiency due to empty sella turcica syndrome"
          },
          {
            "code" : "91355",
            "display" : "Sheehan syndrome"
          },
          {
            "code" : "91358",
            "display" : "Congenital esophageal diverticulum"
          },
          {
            "code" : "91359",
            "display" : "Chronic pneumonitis of infancy"
          },
          {
            "code" : "91364",
            "display" : "Non-specific interstitial pneumonia"
          },
          {
            "code" : "91387",
            "display" : "Familial thoracic aortic aneurysm and aortic dissection"
          },
          {
            "code" : "91396",
            "display" : "Isolated cryptophthalmia"
          },
          {
            "code" : "91397",
            "display" : "Isolated ankyloblepharon filiforme adnatum"
          },
          {
            "code" : "91411",
            "display" : "Congenital ptosis"
          },
          {
            "code" : "91412",
            "display" : "Marcus-Gunn syndrome"
          },
          {
            "code" : "91413",
            "display" : "Congenital Horner syndrome"
          },
          {
            "code" : "91414",
            "display" : "Pilomatrixoma"
          },
          {
            "code" : "91416",
            "display" : "Isolated congenital alacrima"
          },
          {
            "code" : "91481",
            "display" : "Ring dermoid of cornea"
          },
          {
            "code" : "91483",
            "display" : "Rieger anomaly"
          },
          {
            "code" : "91489",
            "display" : "Isolated congenital megalocornea"
          },
          {
            "code" : "91490",
            "display" : "Isolated congenital sclerocornea"
          },
          {
            "code" : "91491",
            "display" : "Congenital ectropion uveae"
          },
          {
            "code" : "91492",
            "display" : "Early-onset non-syndromic cataract"
          },
          {
            "code" : "91494",
            "display" : "Macular coloboma-cleft palate-hallux valgus syndrome"
          },
          {
            "code" : "91495",
            "display" : "Persistent hyperplastic primary vitreous"
          },
          {
            "code" : "91496",
            "display" : "Snowflake vitreoretinal degeneration"
          },
          {
            "code" : "91498",
            "display" : "Familial congenital palsy of trochlear nerve"
          },
          {
            "code" : "915",
            "display" : "Aarskog-Scott syndrome"
          },
          {
            "code" : "91500",
            "display" : "Tubulointerstitial nephritis and uveitis syndrome"
          },
          {
            "code" : "91546",
            "display" : "Lyme disease"
          },
          {
            "code" : "91547",
            "display" : "Relapsing fever"
          },
          {
            "code" : "916",
            "display" : "Aase-Smith syndrome"
          },
          {
            "code" : "920",
            "display" : "Ablepharon macrostomia syndrome"
          },
          {
            "code" : "92050",
            "display" : "Congenital tufting enteropathy"
          },
          {
            "code" : "921",
            "display" : "Abruzzo-Erickson syndrome"
          },
          {
            "code" : "922",
            "display" : "Familial nasal acilia"
          },
          {
            "code" : "926",
            "display" : "Acatalasemia"
          },
          {
            "code" : "927",
            "display" : "Hyperammonemia due to N-acetylglutamate synthase deficiency"
          },
          {
            "code" : "929",
            "display" : "Achalasia-microcephaly syndrome"
          },
          {
            "code" : "93",
            "display" : "Aspartylglucosaminuria"
          },
          {
            "code" : "930",
            "display" : "Idiopathic achalasia"
          },
          {
            "code" : "931",
            "display" : "Acheiropodia"
          },
          {
            "code" : "93100",
            "display" : "Renal agenesis, unilateral"
          },
          {
            "code" : "93101",
            "display" : "Renal hypoplasia"
          },
          {
            "code" : "93108",
            "display" : "Renal dysplasia"
          },
          {
            "code" : "93109",
            "display" : "Congenital megacalycosis"
          },
          {
            "code" : "93110",
            "display" : "Posterior urethral valve"
          },
          {
            "code" : "93111",
            "display" : "HNF1B-related autosomal dominant tubulointerstitial kidney disease"
          },
          {
            "code" : "93114",
            "display" : "Autosomal dominant intermediate Charcot-Marie-Tooth disease type E"
          },
          {
            "code" : "93126",
            "display" : "Pauci-immune glomerulonephritis"
          },
          {
            "code" : "93160",
            "display" : "Hypocalcemic vitamin D-resistant rickets"
          },
          {
            "code" : "93164",
            "display" : "Transient pseudohypoaldosteronism"
          },
          {
            "code" : "93172",
            "display" : "Renal dysplasia, unilateral"
          },
          {
            "code" : "93173",
            "display" : "Renal dysplasia, bilateral"
          },
          {
            "code" : "93176",
            "display" : "Unilateral congenital megacalycosis"
          },
          {
            "code" : "93177",
            "display" : "Congenital bilateral megacalycosis"
          },
          {
            "code" : "932",
            "display" : "Achondrogenesis"
          },
          {
            "code" : "93256",
            "display" : "Fragile X-associated tremor/ataxia syndrome"
          },
          {
            "code" : "93258",
            "display" : "Pfeiffer syndrome type 1"
          },
          {
            "code" : "93259",
            "display" : "Pfeiffer syndrome type 2"
          },
          {
            "code" : "93260",
            "display" : "Pfeiffer syndrome type 3"
          },
          {
            "code" : "93262",
            "display" : "Crouzon syndrome-acanthosis nigricans syndrome"
          },
          {
            "code" : "93267",
            "display" : "Cloverleaf skull-multiple congenital anomalies syndrome"
          },
          {
            "code" : "93268",
            "display" : "Short rib-polydactyly syndrome, Beemer-Langer type"
          },
          {
            "code" : "93269",
            "display" : "Short rib-polydactyly syndrome, Majewski type"
          },
          {
            "code" : "93270",
            "display" : "Short rib-polydactyly syndrome, Saldino-Noonan type"
          },
          {
            "code" : "93271",
            "display" : "Short rib-polydactyly syndrome, Verma-Naumoff type"
          },
          {
            "code" : "93274",
            "display" : "Thanatophoric dysplasia type 2"
          },
          {
            "code" : "93276",
            "display" : "Polyostotic fibrous dysplasia"
          },
          {
            "code" : "93277",
            "display" : "Monostotic fibrous dysplasia"
          },
          {
            "code" : "93279",
            "display" : "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis"
          },
          {
            "code" : "93282",
            "display" : "Spondyloepimetaphyseal dysplasia, PAPSS2 type"
          },
          {
            "code" : "93283",
            "display" : "Spondyloepiphyseal dysplasia, Kimberley type"
          },
          {
            "code" : "93284",
            "display" : "Spondyloepiphyseal dysplasia tarda"
          },
          {
            "code" : "93292",
            "display" : "Adenoma of pancreas"
          },
          {
            "code" : "93293",
            "display" : "Okihiro syndrome"
          },
          {
            "code" : "93296",
            "display" : "Achondrogenesis type 2"
          },
          {
            "code" : "93297",
            "display" : "Hypochondrogenesis"
          },
          {
            "code" : "93298",
            "display" : "Achondrogenesis type 1B"
          },
          {
            "code" : "93299",
            "display" : "Achondrogenesis type 1A"
          },
          {
            "code" : "93302",
            "display" : "Brachyolmia, Maroteaux type"
          },
          {
            "code" : "93304",
            "display" : "Autosomal dominant brachyolmia"
          },
          {
            "code" : "93307",
            "display" : "Multiple epiphyseal dysplasia type 4"
          },
          {
            "code" : "93308",
            "display" : "Multiple epiphyseal dysplasia type 1"
          },
          {
            "code" : "93311",
            "display" : "Multiple epiphyseal dysplasia type 5"
          },
          {
            "code" : "93314",
            "display" : "Spondylometaphyseal dysplasia, Kozlowski type"
          },
          {
            "code" : "93315",
            "display" : "Spondylometaphyseal dysplasia, 'corner fracture' type"
          },
          {
            "code" : "93316",
            "display" : "Spondylometaphyseal dysplasia, Schmidt type"
          },
          {
            "code" : "93317",
            "display" : "Spondylometaphyseal dysplasia, Sedaghatian type"
          },
          {
            "code" : "93320",
            "display" : "Ulnar hemimelia"
          },
          {
            "code" : "93321",
            "display" : "Radial hemimelia"
          },
          {
            "code" : "93322",
            "display" : "Tibial hemimelia"
          },
          {
            "code" : "93323",
            "display" : "Fibular hemimelia"
          },
          {
            "code" : "93324",
            "display" : "Autosomal recessive Kenny-Caffey syndrome"
          },
          {
            "code" : "93325",
            "display" : "Autosomal dominant Kenny-Caffey syndrome"
          },
          {
            "code" : "93328",
            "display" : "Autosomal dominant omodysplasia"
          },
          {
            "code" : "93329",
            "display" : "Autosomal recessive omodysplasia"
          },
          {
            "code" : "93333",
            "display" : "Pelviscapular dysplasia"
          },
          {
            "code" : "93334",
            "display" : "Postaxial polydactyly type A"
          },
          {
            "code" : "93335",
            "display" : "Postaxial polydactyly type B"
          },
          {
            "code" : "93336",
            "display" : "Polydactyly of a triphalangeal thumb"
          },
          {
            "code" : "93337",
            "display" : "Polydactyly of an index finger"
          },
          {
            "code" : "93338",
            "display" : "Polysyndactyly"
          },
          {
            "code" : "93339",
            "display" : "Polydactyly of a biphalangeal thumb and/or hallux"
          },
          {
            "code" : "93346",
            "display" : "Spondyloepimetaphyseal dysplasia congenita, Strudwick type"
          },
          {
            "code" : "93347",
            "display" : "Anauxetic dysplasia"
          },
          {
            "code" : "93349",
            "display" : "X-linked spondyloepimetaphyseal dysplasia"
          },
          {
            "code" : "93351",
            "display" : "Spondyloepimetaphyseal dysplasia, Irapa type"
          },
          {
            "code" : "93352",
            "display" : "Spondyloepimetaphyseal dysplasia, Shohat type"
          },
          {
            "code" : "93356",
            "display" : "Spondyloepimetaphyseal dysplasia, Missouri type"
          },
          {
            "code" : "93357",
            "display" : "SPONASTRIME dysplasia"
          },
          {
            "code" : "93358",
            "display" : "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"
          },
          {
            "code" : "93360",
            "display" : "Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type"
          },
          {
            "code" : "93372",
            "display" : "Familial hypocalciuric hypercalcemia type 1"
          },
          {
            "code" : "93382",
            "display" : "Brachydactyly type A6"
          },
          {
            "code" : "93383",
            "display" : "Brachydactyly type B"
          },
          {
            "code" : "93384",
            "display" : "Brachydactyly type C"
          },
          {
            "code" : "93387",
            "display" : "Brachydactyly type E"
          },
          {
            "code" : "93388",
            "display" : "Brachydactyly type A1"
          },
          {
            "code" : "93394",
            "display" : "Brachydactyly type A4"
          },
          {
            "code" : "93396",
            "display" : "Brachydactyly type A2"
          },
          {
            "code" : "93397",
            "display" : "Brachydactyly type A7"
          },
          {
            "code" : "93398",
            "display" : "Genochondromatosis type 2"
          },
          {
            "code" : "93399",
            "display" : "Juvenile sialidosis type 2"
          },
          {
            "code" : "93400",
            "display" : "Congenital sialidosis type 2"
          },
          {
            "code" : "93402",
            "display" : "Syndactyly type 1"
          },
          {
            "code" : "93403",
            "display" : "Syndactyly type 2"
          },
          {
            "code" : "93404",
            "display" : "Syndactyly type 3"
          },
          {
            "code" : "93405",
            "display" : "Syndactyly type 4"
          },
          {
            "code" : "93406",
            "display" : "Syndactyly type 5"
          },
          {
            "code" : "93409",
            "display" : "Brachydactyly-syndactyly, Zhao type"
          },
          {
            "code" : "93473",
            "display" : "Hurler syndrome"
          },
          {
            "code" : "93474",
            "display" : "Scheie syndrome"
          },
          {
            "code" : "93476",
            "display" : "Hurler-Scheie syndrome"
          },
          {
            "code" : "935",
            "display" : "Short-limb skeletal dysplasia with severe combined immunodeficiency"
          },
          {
            "code" : "93552",
            "display" : "Pediatric systemic lupus erythematosus"
          },
          {
            "code" : "93554",
            "display" : "Mixed cryoglobulinemia type II"
          },
          {
            "code" : "93555",
            "display" : "Mixed cryoglobulinemia type III"
          },
          {
            "code" : "93556",
            "display" : "Heavy chain deposition disease"
          },
          {
            "code" : "93557",
            "display" : "Light and heavy chain deposition disease"
          },
          {
            "code" : "93558",
            "display" : "Light chain deposition disease"
          },
          {
            "code" : "93560",
            "display" : "AApoAI amyloidosis"
          },
          {
            "code" : "93561",
            "display" : "ALys amyloidosis"
          },
          {
            "code" : "93562",
            "display" : "AFib amyloidosis"
          },
          {
            "code" : "93568",
            "display" : "Juvenile polymyositis"
          },
          {
            "code" : "93569",
            "display" : "Polymyalgia rheumatica"
          },
          {
            "code" : "93571",
            "display" : "Dense deposit disease"
          },
          {
            "code" : "93581",
            "display" : "Atypical hemolytic uremic syndrome with anti-factor H antibodies"
          },
          {
            "code" : "93583",
            "display" : "Congenital thrombotic thrombocytopenic purpura"
          },
          {
            "code" : "93585",
            "display" : "Immune-mediated thrombotic thrombocytopenic purpura"
          },
          {
            "code" : "93589",
            "display" : "Late-onset nephronophthisis"
          },
          {
            "code" : "93591",
            "display" : "Infantile nephronophthisis"
          },
          {
            "code" : "93592",
            "display" : "Juvenile nephronophthisis"
          },
          {
            "code" : "93598",
            "display" : "Primary hyperoxaluria type 1"
          },
          {
            "code" : "93599",
            "display" : "Primary hyperoxaluria type 2"
          },
          {
            "code" : "93600",
            "display" : "Primary hyperoxaluria type 3"
          },
          {
            "code" : "93601",
            "display" : "Xanthinuria type I"
          },
          {
            "code" : "93602",
            "display" : "Xanthinuria type II"
          },
          {
            "code" : "93605",
            "display" : "Bartter syndrome type 3"
          },
          {
            "code" : "93606",
            "display" : "Nephrogenic syndrome of inappropriate antidiuresis"
          },
          {
            "code" : "93607",
            "display" : "Autosomal recessive proximal renal tubular acidosis"
          },
          {
            "code" : "93608",
            "display" : "Autosomal dominant distal renal tubular acidosis"
          },
          {
            "code" : "93610",
            "display" : "Distal renal tubular acidosis with anemia"
          },
          {
            "code" : "93612",
            "display" : "Cystinuria type A"
          },
          {
            "code" : "93613",
            "display" : "Cystinuria type B"
          },
          {
            "code" : "93616",
            "display" : "Hemoglobin H disease"
          },
          {
            "code" : "93622",
            "display" : "Dent disease type 1"
          },
          {
            "code" : "93623",
            "display" : "Dent disease type 2"
          },
          {
            "code" : "93672",
            "display" : "Juvenile dermatomyositis"
          },
          {
            "code" : "93685",
            "display" : "Unicentric Castleman disease"
          },
          {
            "code" : "939",
            "display" : "3-hydroxyisobutyric aciduria"
          },
          {
            "code" : "93921",
            "display" : "Full schwannomatosis"
          },
          {
            "code" : "93924",
            "display" : "Lobar holoprosencephaly"
          },
          {
            "code" : "93925",
            "display" : "Alobar holoprosencephaly"
          },
          {
            "code" : "93926",
            "display" : "Midline interhemispheric variant of holoprosencephaly"
          },
          {
            "code" : "93928",
            "display" : "Isolated epispadias"
          },
          {
            "code" : "93929",
            "display" : "Cloacal exstrophy"
          },
          {
            "code" : "93930",
            "display" : "Bladder exstrophy"
          },
          {
            "code" : "93932",
            "display" : "FG syndrome type 1"
          },
          {
            "code" : "93938",
            "display" : "Laryngotracheoesophageal cleft type 1"
          },
          {
            "code" : "93939",
            "display" : "Laryngotracheoesophageal cleft type 2"
          },
          {
            "code" : "93940",
            "display" : "Laryngotracheoesophageal cleft type 3"
          },
          {
            "code" : "93941",
            "display" : "Laryngotracheoesophageal cleft type 4"
          },
          {
            "code" : "93945",
            "display" : "X-linked intellectual disability, Porteous type"
          },
          {
            "code" : "93946",
            "display" : "Hamel cerebro-palato-cardiac syndrome"
          },
          {
            "code" : "93947",
            "display" : "X-linked intellectual disability, Golabi-Ito-Hall type"
          },
          {
            "code" : "93950",
            "display" : "X-linked intellectual disability, Sutherland-Haan type"
          },
          {
            "code" : "93952",
            "display" : "X-linked intellectual disability, Hedera type"
          },
          {
            "code" : "93953",
            "display" : "Familial thyroglossal duct cyst"
          },
          {
            "code" : "93958",
            "display" : "Oromandibular dystonia"
          },
          {
            "code" : "93964",
            "display" : "Blepharospasm-oromandibular dystonia syndrome"
          },
          {
            "code" : "93969",
            "display" : "Open spinal dysraphism with a myelomeningocele"
          },
          {
            "code" : "93976",
            "display" : "Anotia"
          },
          {
            "code" : "94056",
            "display" : "Humero-ulnar synostosis"
          },
          {
            "code" : "94058",
            "display" : "Neovascular glaucoma"
          },
          {
            "code" : "94059",
            "display" : "Uremic pruritus"
          },
          {
            "code" : "94063",
            "display" : "12q14 microdeletion syndrome"
          },
          {
            "code" : "94064",
            "display" : "Deafness-infertility syndrome"
          },
          {
            "code" : "94065",
            "display" : "15q24 microdeletion syndrome"
          },
          {
            "code" : "94066",
            "display" : "Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia"
          },
          {
            "code" : "94068",
            "display" : "Spondyloepiphyseal dysplasia congenita"
          },
          {
            "code" : "94080",
            "display" : "Non-functioning paraganglioma"
          },
          {
            "code" : "94083",
            "display" : "Partington syndrome"
          },
          {
            "code" : "94086",
            "display" : "Blue diaper syndrome"
          },
          {
            "code" : "94087",
            "display" : "Cytophagic histiocytic panniculitis"
          },
          {
            "code" : "94088",
            "display" : "Hereditary renal hypouricemia"
          },
          {
            "code" : "94089",
            "display" : "Pseudohypoparathyroidism type 1B"
          },
          {
            "code" : "94090",
            "display" : "Pseudohypoparathyroidism type 2"
          },
          {
            "code" : "94091",
            "display" : "Mills syndrome"
          },
          {
            "code" : "94093",
            "display" : "Neuroleptic malignant syndrome"
          },
          {
            "code" : "941",
            "display" : "D-glyceric aciduria"
          },
          {
            "code" : "94122",
            "display" : "Cerebellar ataxia, Cayman type"
          },
          {
            "code" : "94124",
            "display" : "Spinocerebellar ataxia with axonal neuropathy type 1"
          },
          {
            "code" : "94125",
            "display" : "Recessive mitochondrial ataxia syndrome"
          },
          {
            "code" : "94147",
            "display" : "Spinocerebellar ataxia type 7"
          },
          {
            "code" : "94150",
            "display" : "Anonychia congenita totalis"
          },
          {
            "code" : "943",
            "display" : "Malonic aciduria"
          },
          {
            "code" : "945",
            "display" : "Acalvaria"
          },
          {
            "code" : "949",
            "display" : "Acrocraniofacial dysostosis"
          },
          {
            "code" : "95",
            "display" : "Friedreich ataxia"
          },
          {
            "code" : "950",
            "display" : "Acrodysostosis"
          },
          {
            "code" : "95159",
            "display" : "Hepatoerythropoietic porphyria"
          },
          {
            "code" : "952",
            "display" : "Acrofacial dysostosis, Weyers type"
          },
          {
            "code" : "95232",
            "display" : "Lissencephaly due to LIS1 mutation"
          },
          {
            "code" : "95409",
            "display" : "Acute adrenal insufficiency"
          },
          {
            "code" : "95427",
            "display" : "Secondary short bowel syndrome"
          },
          {
            "code" : "95428",
            "display" : "COG8-CDG"
          },
          {
            "code" : "95429",
            "display" : "Angioma serpiginosum"
          },
          {
            "code" : "95430",
            "display" : "Congenital tracheomalacia"
          },
          {
            "code" : "95431",
            "display" : "Twin to twin transfusion syndrome"
          },
          {
            "code" : "95433",
            "display" : "Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome"
          },
          {
            "code" : "95434",
            "display" : "Autosomal recessive cerebellar ataxia-movement disorder syndrome"
          },
          {
            "code" : "95443",
            "display" : "Mesocardia"
          },
          {
            "code" : "95448",
            "display" : "Congenital aortic valve atresia"
          },
          {
            "code" : "95455",
            "display" : "Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum"
          },
          {
            "code" : "95457",
            "display" : "Tricuspid valve agenesis"
          },
          {
            "code" : "95459",
            "display" : "Congenital tricuspid stenosis"
          },
          {
            "code" : "95461",
            "display" : "Straddling or overriding tricuspid valve"
          },
          {
            "code" : "95462",
            "display" : "Accessory tricuspid valve tissue"
          },
          {
            "code" : "95465",
            "display" : "Cleft mitral valve"
          },
          {
            "code" : "95474",
            "display" : "Double-orifice mitral valve"
          },
          {
            "code" : "95486",
            "display" : "Premature closure of the arterial duct"
          },
          {
            "code" : "95491",
            "display" : "Congenital coronary artery aneurysm"
          },
          {
            "code" : "95494",
            "display" : "Combined pituitary hormone deficiencies, genetic forms"
          },
          {
            "code" : "95496",
            "display" : "Pituitary stalk interruption syndrome"
          },
          {
            "code" : "955",
            "display" : "Hajdu-Cheney syndrome"
          },
          {
            "code" : "95507",
            "display" : "Congenital anomaly of hepatic vein"
          },
          {
            "code" : "95512",
            "display" : "Adenohypophysitis"
          },
          {
            "code" : "95513",
            "display" : "Panhypophysitis"
          },
          {
            "code" : "95613",
            "display" : "Pituitary apoplexy"
          },
          {
            "code" : "95619",
            "display" : "Post-traumatic pituitary deficiency"
          },
          {
            "code" : "95626",
            "display" : "Acquired central diabetes insipidus"
          },
          {
            "code" : "95699",
            "display" : "Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency"
          },
          {
            "code" : "957",
            "display" : "Acropectorovertebral dysplasia"
          },
          {
            "code" : "95700",
            "display" : "Familial adrenal hypoplasia with absent pituitary luteinizing hormone"
          },
          {
            "code" : "95702",
            "display" : "X-linked adrenal hypoplasia congenita"
          },
          {
            "code" : "95706",
            "display" : "Non-syndromic posterior hypospadias"
          },
          {
            "code" : "95707",
            "display" : "Idiopathic isolated micropenis"
          },
          {
            "code" : "95712",
            "display" : "Thyroid ectopia"
          },
          {
            "code" : "95713",
            "display" : "Athyreosis"
          },
          {
            "code" : "95715",
            "display" : "Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies"
          },
          {
            "code" : "95716",
            "display" : "Familial thyroid dyshormonogenesis"
          },
          {
            "code" : "95717",
            "display" : "Idiopathic congenital hypothyroidism"
          },
          {
            "code" : "95719",
            "display" : "Thyroid hemiagenesis"
          },
          {
            "code" : "95720",
            "display" : "Thyroid hypoplasia"
          },
          {
            "code" : "958",
            "display" : "Acro-renal-mandibular syndrome"
          },
          {
            "code" : "95854",
            "display" : "Levocardia"
          },
          {
            "code" : "959",
            "display" : "Acro-renal-ocular syndrome"
          },
          {
            "code" : "96",
            "display" : "Ataxia with vitamin E deficiency"
          },
          {
            "code" : "96055",
            "display" : "Tetrasomy 21"
          },
          {
            "code" : "96059",
            "display" : "Mosaic trisomy 4"
          },
          {
            "code" : "96060",
            "display" : "Mosaic trisomy 5"
          },
          {
            "code" : "96061",
            "display" : "Mosaic trisomy 8"
          },
          {
            "code" : "96063",
            "display" : "Mosaic trisomy 10"
          },
          {
            "code" : "96068",
            "display" : "Mosaic trisomy 22"
          },
          {
            "code" : "96069",
            "display" : "Distal duplication 1p36"
          },
          {
            "code" : "96070",
            "display" : "Distal duplication 2p"
          },
          {
            "code" : "96071",
            "display" : "Distal duplication 3p"
          },
          {
            "code" : "96072",
            "display" : "4p16.3 microduplication syndrome"
          },
          {
            "code" : "96074",
            "display" : "Distal duplication 7p"
          },
          {
            "code" : "96076",
            "display" : "Beckwith-Wiedemann syndrome due to 11p15 microduplication"
          },
          {
            "code" : "96078",
            "display" : "16p13.3 microduplication syndrome"
          },
          {
            "code" : "96092",
            "display" : "8p inverted duplication/deletion syndrome"
          },
          {
            "code" : "96094",
            "display" : "Distal duplication 2q"
          },
          {
            "code" : "96095",
            "display" : "3q26 microduplication syndrome"
          },
          {
            "code" : "96096",
            "display" : "Distal duplication 4q"
          },
          {
            "code" : "96097",
            "display" : "Distal duplication 5q"
          },
          {
            "code" : "96098",
            "display" : "Distal duplication 6q"
          },
          {
            "code" : "96100",
            "display" : "Distal duplication 8q"
          },
          {
            "code" : "96101",
            "display" : "Distal duplication 9q"
          },
          {
            "code" : "96102",
            "display" : "Distal duplication 10q"
          },
          {
            "code" : "96103",
            "display" : "Distal duplication 11q"
          },
          {
            "code" : "96105",
            "display" : "Distal duplication 13q"
          },
          {
            "code" : "96106",
            "display" : "Distal duplication 16q"
          },
          {
            "code" : "96107",
            "display" : "Distal duplication 20q"
          },
          {
            "code" : "96109",
            "display" : "Distal duplication 22q"
          },
          {
            "code" : "96112",
            "display" : "Non-distal duplication 9q"
          },
          {
            "code" : "96121",
            "display" : "7q11.23 microduplication syndrome"
          },
          {
            "code" : "96123",
            "display" : "Monosomy 22"
          },
          {
            "code" : "96125",
            "display" : "Distal deletion 6p"
          },
          {
            "code" : "96126",
            "display" : "Distal deletion 7p"
          },
          {
            "code" : "96129",
            "display" : "Distal deletion 19p"
          },
          {
            "code" : "96145",
            "display" : "Distal deletion 4q"
          },
          {
            "code" : "96147",
            "display" : "Kleefstra syndrome due to 9q34 microdeletion"
          },
          {
            "code" : "96148",
            "display" : "Distal deletion 10q"
          },
          {
            "code" : "96149",
            "display" : "Distal deletion 12q"
          },
          {
            "code" : "96150",
            "display" : "Distal deletion 14q"
          },
          {
            "code" : "96160",
            "display" : "Non-distal deletion 12q"
          },
          {
            "code" : "96167",
            "display" : "Recombinant 8 syndrome"
          },
          {
            "code" : "96168",
            "display" : "Monosomy 13q34"
          },
          {
            "code" : "96169",
            "display" : "Koolen-De Vries syndrome"
          },
          {
            "code" : "96170",
            "display" : "Emanuel syndrome"
          },
          {
            "code" : "96171",
            "display" : "Ring chromosome 2 syndrome"
          },
          {
            "code" : "96172",
            "display" : "Ring chromosome 3 syndrome"
          },
          {
            "code" : "96173",
            "display" : "Ring chromosome 9 syndrome"
          },
          {
            "code" : "96175",
            "display" : "Ring chromosome 11 syndrome"
          },
          {
            "code" : "96176",
            "display" : "Ring chromosome 13 syndrome"
          },
          {
            "code" : "96177",
            "display" : "Ring chromosome 15 syndrome"
          },
          {
            "code" : "96178",
            "display" : "Ring chromosome 16 syndrome"
          },
          {
            "code" : "96179",
            "display" : "Maternal uniparental disomy of chromosome 2"
          },
          {
            "code" : "96180",
            "display" : "Maternal uniparental disomy of chromosome 4"
          },
          {
            "code" : "96181",
            "display" : "Maternal uniparental disomy of chromosome 6"
          },
          {
            "code" : "96182",
            "display" : "Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7"
          },
          {
            "code" : "96183",
            "display" : "Maternal uniparental disomy of chromosome 9"
          },
          {
            "code" : "96184",
            "display" : "Temple syndrome due to maternal uniparental disomy of chromosome 14"
          },
          {
            "code" : "96185",
            "display" : "Maternal uniparental disomy of chromosome 16"
          },
          {
            "code" : "96186",
            "display" : "Maternal uniparental disomy of chromosome 20"
          },
          {
            "code" : "96187",
            "display" : "Maternal uniparental disomy of chromosome 21"
          },
          {
            "code" : "96188",
            "display" : "Maternal uniparental disomy of chromosome 22"
          },
          {
            "code" : "96190",
            "display" : "Paternal uniparental disomy of chromosome 5"
          },
          {
            "code" : "96191",
            "display" : "Paternal uniparental disomy of chromosome 6"
          },
          {
            "code" : "96192",
            "display" : "Paternal uniparental disomy of chromosome 7"
          },
          {
            "code" : "96193",
            "display" : "Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11"
          },
          {
            "code" : "96194",
            "display" : "Paternal uniparental disomy of chromosome 20"
          },
          {
            "code" : "96195",
            "display" : "Paternal uniparental disomy of chromosome 21"
          },
          {
            "code" : "96201",
            "display" : "X small rings"
          },
          {
            "code" : "96253",
            "display" : "Cushing disease"
          },
          {
            "code" : "96263",
            "display" : "48,XXXY syndrome"
          },
          {
            "code" : "96264",
            "display" : "49,XXXXY syndrome"
          },
          {
            "code" : "96265",
            "display" : "Leydig cell hypoplasia due to complete LH resistance"
          },
          {
            "code" : "96266",
            "display" : "Leydig cell hypoplasia due to partial LH resistance"
          },
          {
            "code" : "96269",
            "display" : "Isolated partial vaginal agenesis"
          },
          {
            "code" : "963",
            "display" : "Acromegaly"
          },
          {
            "code" : "96334",
            "display" : "Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14"
          },
          {
            "code" : "968",
            "display" : "Acromesomelic dysplasia, Hunter-Thompson type"
          },
          {
            "code" : "969",
            "display" : "Acromicric dysplasia"
          },
          {
            "code" : "97",
            "display" : "Familial paroxysmal ataxia"
          },
          {
            "code" : "970",
            "display" : "Hereditary sensory and autonomic neuropathy type 2"
          },
          {
            "code" : "971",
            "display" : "Acrorenal syndrome"
          },
          {
            "code" : "972",
            "display" : "Hereditary continuous muscle fiber activity"
          },
          {
            "code" : "97214",
            "display" : "Eisenmenger syndrome"
          },
          {
            "code" : "97229",
            "display" : "Riboflavin transporter deficiency"
          },
          {
            "code" : "97230",
            "display" : "Solar urticaria"
          },
          {
            "code" : "97232",
            "display" : "Fingerprint body myopathy"
          },
          {
            "code" : "97234",
            "display" : "Glycogen storage disease due to phosphoglycerate mutase deficiency"
          },
          {
            "code" : "97238",
            "display" : "Rippling muscle disease"
          },
          {
            "code" : "97239",
            "display" : "Reducing body myopathy"
          },
          {
            "code" : "97240",
            "display" : "Zebra body myopathy"
          },
          {
            "code" : "97244",
            "display" : "Rigid spine syndrome"
          },
          {
            "code" : "97249",
            "display" : "Pontocerebellar hypoplasia type 3"
          },
          {
            "code" : "97252",
            "display" : "Mega-cisterna magna"
          },
          {
            "code" : "97261",
            "display" : "GRFoma"
          },
          {
            "code" : "97278",
            "display" : "PPoma"
          },
          {
            "code" : "97279",
            "display" : "Insulinoma"
          },
          {
            "code" : "97280",
            "display" : "Glucagonoma"
          },
          {
            "code" : "97282",
            "display" : "VIPoma"
          },
          {
            "code" : "97283",
            "display" : "Somatostatinoma"
          },
          {
            "code" : "97285",
            "display" : "Thyroid lymphoma"
          },
          {
            "code" : "97286",
            "display" : "Carney-Stratakis syndrome"
          },
          {
            "code" : "97287",
            "display" : "Bronchial neuroendocrine tumor"
          },
          {
            "code" : "97289",
            "display" : "Thymic neuroendocrine tumor"
          },
          {
            "code" : "97290",
            "display" : "Familial papillary thyroid carcinoma with renal papillary neoplasia"
          },
          {
            "code" : "97292",
            "display" : "Cardiogenic shock"
          },
          {
            "code" : "97297",
            "display" : "Bohring-Opitz syndrome"
          },
          {
            "code" : "973",
            "display" : "Congenital absence/hypoplasia of fingers excluding thumb, unilateral"
          },
          {
            "code" : "97330",
            "display" : "Thoracic outlet syndrome"
          },
          {
            "code" : "97332",
            "display" : "Kienbock disease"
          },
          {
            "code" : "97335",
            "display" : "Osgood-Schlatter disease"
          },
          {
            "code" : "97336",
            "display" : "Panner disease"
          },
          {
            "code" : "97337",
            "display" : "Sinding-Larsen-Johansson disease"
          },
          {
            "code" : "97338",
            "display" : "Melanoma of soft tissue"
          },
          {
            "code" : "97339",
            "display" : "Dural sinus malformation"
          },
          {
            "code" : "97340",
            "display" : "Hunter-McAlpine syndrome"
          },
          {
            "code" : "97341",
            "display" : "Persistent placoid maculopathy"
          },
          {
            "code" : "97345",
            "display" : "ABri amyloidosis"
          },
          {
            "code" : "97346",
            "display" : "ADan amyloidosis"
          },
          {
            "code" : "97349",
            "display" : "Postencephalitic parkinsonism"
          },
          {
            "code" : "97352",
            "display" : "Pellagra"
          },
          {
            "code" : "97353",
            "display" : "Dementia pugilistica"
          },
          {
            "code" : "97355",
            "display" : "Caribbean parkinsonism"
          },
          {
            "code" : "97360",
            "display" : "Robinow syndrome"
          },
          {
            "code" : "97361",
            "display" : "Renal hypoplasia, unilateral"
          },
          {
            "code" : "97362",
            "display" : "Renal hypoplasia, bilateral"
          },
          {
            "code" : "97363",
            "display" : "Unilateral multicystic dysplastic kidney"
          },
          {
            "code" : "97364",
            "display" : "Bilateral multicystic dysplastic kidney"
          },
          {
            "code" : "97366",
            "display" : "Multiloculated renal cyst"
          },
          {
            "code" : "97367",
            "display" : "Renal tubular dysgenesis due to twin-twin transfusion"
          },
          {
            "code" : "97368",
            "display" : "Drug-related renal tubular dysgenesis"
          },
          {
            "code" : "97369",
            "display" : "Renal tubular dysgenesis of genetic origin"
          },
          {
            "code" : "974",
            "display" : "Adams-Oliver syndrome"
          },
          {
            "code" : "97548",
            "display" : "Right sided atrial isomerism"
          },
          {
            "code" : "97560",
            "display" : "Primary membranous glomerulonephritis"
          },
          {
            "code" : "97563",
            "display" : "Pauci-immune glomerulonephritis with ANCA"
          },
          {
            "code" : "97564",
            "display" : "Pauci-immune glomerulonephritis without ANCA"
          },
          {
            "code" : "97566",
            "display" : "Non-amyloid fibrillary glomerulopathy"
          },
          {
            "code" : "97567",
            "display" : "Immunotactoid glomerulopathy"
          },
          {
            "code" : "97598",
            "display" : "Congenital renal artery stenosis"
          },
          {
            "code" : "976",
            "display" : "Adenine phosphoribosyltransferase deficiency"
          },
          {
            "code" : "97678",
            "display" : "Maternal uniparental disomy of chromosome 13"
          },
          {
            "code" : "97685",
            "display" : "17q11 microdeletion syndrome"
          },
          {
            "code" : "977",
            "display" : "Adrenomyodystrophy"
          },
          {
            "code" : "978",
            "display" : "ADULT syndrome"
          },
          {
            "code" : "98",
            "display" : "Autosomal recessive spastic ataxia of Charlevoix-Saguenay"
          },
          {
            "code" : "980",
            "display" : "Absence of the pulmonary artery"
          },
          {
            "code" : "981",
            "display" : "Internal carotid absence"
          },
          {
            "code" : "98267",
            "display" : "Genetic non-syndromic obesity"
          },
          {
            "code" : "983",
            "display" : "Testicular regression syndrome"
          },
          {
            "code" : "984",
            "display" : "Pulmonary agenesis"
          },
          {
            "code" : "98434",
            "display" : "Hereditary combined deficiency of vitamin K-dependent clotting factors"
          },
          {
            "code" : "98606",
            "display" : "Syndromic orbital border hypoplasia"
          },
          {
            "code" : "98619",
            "display" : "Rare isolated myopia"
          },
          {
            "code" : "98673",
            "display" : "Autosomal dominant optic atrophy, classic form"
          },
          {
            "code" : "98676",
            "display" : "Autosomal recessive isolated optic atrophy"
          },
          {
            "code" : "98686",
            "display" : "Congenital trochlear nerve palsy"
          },
          {
            "code" : "98754",
            "display" : "Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15"
          },
          {
            "code" : "98755",
            "display" : "Spinocerebellar ataxia type 1"
          },
          {
            "code" : "98756",
            "display" : "Spinocerebellar ataxia type 2"
          },
          {
            "code" : "98757",
            "display" : "Spinocerebellar ataxia type 3"
          },
          {
            "code" : "98758",
            "display" : "Spinocerebellar ataxia type 6"
          },
          {
            "code" : "98759",
            "display" : "Spinocerebellar ataxia type 17"
          },
          {
            "code" : "98760",
            "display" : "Spinocerebellar ataxia type 8"
          },
          {
            "code" : "98761",
            "display" : "Spinocerebellar ataxia type 10"
          },
          {
            "code" : "98762",
            "display" : "Spinocerebellar ataxia type 12"
          },
          {
            "code" : "98763",
            "display" : "Spinocerebellar ataxia type 14"
          },
          {
            "code" : "98764",
            "display" : "Spinocerebellar ataxia type 27"
          },
          {
            "code" : "98765",
            "display" : "Spinocerebellar ataxia type 4"
          },
          {
            "code" : "98766",
            "display" : "Spinocerebellar ataxia type 5"
          },
          {
            "code" : "98767",
            "display" : "Spinocerebellar ataxia type 11"
          },
          {
            "code" : "98768",
            "display" : "Spinocerebellar ataxia type 13"
          },
          {
            "code" : "98769",
            "display" : "Spinocerebellar ataxia type 15/16"
          },
          {
            "code" : "98771",
            "display" : "Spinocerebellar ataxia type 18"
          },
          {
            "code" : "98772",
            "display" : "Spinocerebellar ataxia type 19/22"
          },
          {
            "code" : "98773",
            "display" : "Spinocerebellar ataxia type 21"
          },
          {
            "code" : "98784",
            "display" : "Autosomal dominant nocturnal frontal lobe epilepsy"
          },
          {
            "code" : "98791",
            "display" : "Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16"
          },
          {
            "code" : "98793",
            "display" : "Prader-Willi syndrome due to paternal 15q11q13 deletion"
          },
          {
            "code" : "98794",
            "display" : "Angelman syndrome due to maternal 15q11q13 deletion"
          },
          {
            "code" : "98795",
            "display" : "Angelman syndrome due to paternal uniparental disomy of chromosome 15"
          },
          {
            "code" : "98797",
            "display" : "Isochromosomy Yp"
          },
          {
            "code" : "98798",
            "display" : "Isochromosomy Yq"
          },
          {
            "code" : "988",
            "display" : "Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome"
          },
          {
            "code" : "98805",
            "display" : "Primary dystonia, DYT4 type"
          },
          {
            "code" : "98806",
            "display" : "Primary dystonia, DYT6 type"
          },
          {
            "code" : "98807",
            "display" : "Primary dystonia, DYT13 type"
          },
          {
            "code" : "98808",
            "display" : "Autosomal dominant dopa-responsive dystonia"
          },
          {
            "code" : "98809",
            "display" : "Paroxysmal kinesigenic dyskinesia"
          },
          {
            "code" : "98810",
            "display" : "Paroxysmal non-kinesigenic dyskinesia"
          },
          {
            "code" : "98811",
            "display" : "Paroxysmal exertion-induced dyskinesia"
          },
          {
            "code" : "98813",
            "display" : "Hypohidrotic ectodermal dysplasia with immunodeficiency"
          },
          {
            "code" : "98815",
            "display" : "Benign childhood occipital epilepsy, Panayiotopoulos type"
          },
          {
            "code" : "98816",
            "display" : "Benign childhood occipital epilepsy, Gastaut type"
          },
          {
            "code" : "98818",
            "display" : "Landau-Kleffner syndrome"
          },
          {
            "code" : "98819",
            "display" : "Familial temporal lobe epilepsy"
          },
          {
            "code" : "98820",
            "display" : "Familial focal epilepsy with variable foci"
          },
          {
            "code" : "98823",
            "display" : "Chronic myelomonocytic leukemia"
          },
          {
            "code" : "98824",
            "display" : "Atypical chronic myeloid leukemia"
          },
          {
            "code" : "98825",
            "display" : "Unclassified myelodysplastic/myeloproliferative disease"
          },
          {
            "code" : "98826",
            "display" : "Refractory anemia"
          },
          {
            "code" : "98827",
            "display" : "Unclassified myelodysplastic syndrome"
          },
          {
            "code" : "98829",
            "display" : "Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)"
          },
          {
            "code" : "98831",
            "display" : "Acute myeloid leukemia with 11q23 abnormalities"
          },
          {
            "code" : "98832",
            "display" : "Acute myeloid leukemia with minimal differentiation"
          },
          {
            "code" : "98833",
            "display" : "Acute myeloblastic leukemia without maturation"
          },
          {
            "code" : "98834",
            "display" : "Acute myeloblastic leukemia with maturation"
          },
          {
            "code" : "98835",
            "display" : "Acute undifferentiated leukemia"
          },
          {
            "code" : "98838",
            "display" : "Primary mediastinal large B-cell lymphoma"
          },
          {
            "code" : "98839",
            "display" : "Intravascular large B-cell lymphoma"
          },
          {
            "code" : "98841",
            "display" : "Anaplastic large cell lymphoma"
          },
          {
            "code" : "98842",
            "display" : "Lymphomatoid papulosis"
          },
          {
            "code" : "98843",
            "display" : "Classic Hodgkin lymphoma, nodular sclerosis type"
          },
          {
            "code" : "98844",
            "display" : "Classic Hodgkin lymphoma, mixed cellularity type"
          },
          {
            "code" : "98845",
            "display" : "Classic Hodgkin lymphoma, lymphocyte-rich type"
          },
          {
            "code" : "98846",
            "display" : "Classic Hodgkin lymphoma, lymphocyte-depleted type"
          },
          {
            "code" : "98848",
            "display" : "Indolent systemic mastocytosis"
          },
          {
            "code" : "98849",
            "display" : "Systemic mastocytosis with associated hematologic neoplasm"
          },
          {
            "code" : "98850",
            "display" : "Aggressive systemic mastocytosis"
          },
          {
            "code" : "98851",
            "display" : "Mast cell leukemia"
          },
          {
            "code" : "98852",
            "display" : "Desquamative interstitial pneumonia"
          },
          {
            "code" : "98853",
            "display" : "Autosomal dominant Emery-Dreifuss muscular dystrophy"
          },
          {
            "code" : "98855",
            "display" : "Autosomal recessive Emery-Dreifuss muscular dystrophy"
          },
          {
            "code" : "98856",
            "display" : "Charcot-Marie-Tooth disease type 2B1"
          },
          {
            "code" : "98863",
            "display" : "X-linked Emery-Dreifuss muscular dystrophy"
          },
          {
            "code" : "98868",
            "display" : "Southeast Asian ovalocytosis"
          },
          {
            "code" : "98869",
            "display" : "Congenital dyserythropoietic anemia type I"
          },
          {
            "code" : "98870",
            "display" : "Congenital dyserythropoietic anemia type III"
          },
          {
            "code" : "98871",
            "display" : "Transient erythroblastopenia of childhood"
          },
          {
            "code" : "98872",
            "display" : "Primary acquired pure red cell aplasia"
          },
          {
            "code" : "98873",
            "display" : "Congenital dyserythropoietic anemia type II"
          },
          {
            "code" : "98878",
            "display" : "Hemophilia A"
          },
          {
            "code" : "98879",
            "display" : "Hemophilia B"
          },
          {
            "code" : "98880",
            "display" : "Familial afibrinogenemia"
          },
          {
            "code" : "98881",
            "display" : "Familial dysfibrinogenemia"
          },
          {
            "code" : "98885",
            "display" : "Bleeding diathesis due to glycoprotein VI deficiency"
          },
          {
            "code" : "98886",
            "display" : "Bleeding diathesis due to integrin alpha2-beta1 deficiency"
          },
          {
            "code" : "98889",
            "display" : "Bilateral perisylvian polymicrogyria"
          },
          {
            "code" : "98890",
            "display" : "Early-onset X-linked optic atrophy"
          },
          {
            "code" : "98892",
            "display" : "Periventricular nodular heterotopia"
          },
          {
            "code" : "98893",
            "display" : "Congenital muscular dystrophy type 1B"
          },
          {
            "code" : "98895",
            "display" : "Becker muscular dystrophy"
          },
          {
            "code" : "98896",
            "display" : "Duchenne muscular dystrophy"
          },
          {
            "code" : "98897",
            "display" : "Oculopharyngodistal myopathy"
          },
          {
            "code" : "989",
            "display" : "Hypoglossia-hypodactyly syndrome"
          },
          {
            "code" : "98902",
            "display" : "Amish nemaline myopathy"
          },
          {
            "code" : "98904",
            "display" : "Congenital myopathy with excess of thin filaments"
          },
          {
            "code" : "98905",
            "display" : "Congenital multicore myopathy with external ophthalmoplegia"
          },
          {
            "code" : "98907",
            "display" : "Neutral lipid storage disease with ichthyosis"
          },
          {
            "code" : "98908",
            "display" : "Neutral lipid storage myopathy"
          },
          {
            "code" : "98909",
            "display" : "Desminopathy"
          },
          {
            "code" : "98911",
            "display" : "Distal myotilinopathy"
          },
          {
            "code" : "98912",
            "display" : "Late-onset distal myopathy, Markesbery-Griggs type"
          },
          {
            "code" : "98913",
            "display" : "Postsynaptic congenital myasthenic syndromes"
          },
          {
            "code" : "98914",
            "display" : "Presynaptic congenital myasthenic syndromes"
          },
          {
            "code" : "98915",
            "display" : "Synaptic congenital myasthenic syndromes"
          },
          {
            "code" : "98916",
            "display" : "Acute inflammatory demyelinating polyradiculoneuropathy"
          },
          {
            "code" : "98917",
            "display" : "Acute motor and sensory axonal neuropathy"
          },
          {
            "code" : "98918",
            "display" : "Acute motor axonal neuropathy"
          },
          {
            "code" : "98919",
            "display" : "Miller Fisher syndrome"
          },
          {
            "code" : "98920",
            "display" : "Spinal muscular atrophy with respiratory distress type 1"
          },
          {
            "code" : "98922",
            "display" : "Blake pouch cyst"
          },
          {
            "code" : "98933",
            "display" : "Multiple system atrophy, parkinsonian type"
          },
          {
            "code" : "98934",
            "display" : "Huntington disease-like 2"
          },
          {
            "code" : "98938",
            "display" : "Colobomatous microphthalmia"
          },
          {
            "code" : "98942",
            "display" : "Coloboma of choroid and retina"
          },
          {
            "code" : "98943",
            "display" : "Coloboma of eye lens"
          },
          {
            "code" : "98944",
            "display" : "Coloboma of iris"
          },
          {
            "code" : "98945",
            "display" : "Coloboma of macula"
          },
          {
            "code" : "98946",
            "display" : "Coloboma of eyelid"
          },
          {
            "code" : "98947",
            "display" : "Coloboma of optic disc"
          },
          {
            "code" : "98948",
            "display" : "Congenital symblepharon"
          },
          {
            "code" : "98949",
            "display" : "Complete cryptophthalmia"
          },
          {
            "code" : "98950",
            "display" : "Partial cryptophthalmia"
          },
          {
            "code" : "98951",
            "display" : "Inverse Marcus-Gunn phenomenon"
          },
          {
            "code" : "98954",
            "display" : "Meesmann corneal dystrophy"
          },
          {
            "code" : "98955",
            "display" : "Lisch epithelial corneal dystrophy"
          },
          {
            "code" : "98956",
            "display" : "Epithelial basement membrane dystrophy"
          },
          {
            "code" : "98957",
            "display" : "Gelatinous drop-like corneal dystrophy"
          },
          {
            "code" : "98958",
            "display" : "Climatic droplet keratopathy"
          },
          {
            "code" : "98959",
            "display" : "Subepithelial mucinous corneal dystrophy"
          },
          {
            "code" : "98960",
            "display" : "Thiel-Behnke corneal dystrophy"
          },
          {
            "code" : "98961",
            "display" : "Reis-Bücklers corneal dystrophy"
          },
          {
            "code" : "98962",
            "display" : "Granular corneal dystrophy type I"
          },
          {
            "code" : "98963",
            "display" : "Granular corneal dystrophy type II"
          },
          {
            "code" : "98964",
            "display" : "Lattice corneal dystrophy type I"
          },
          {
            "code" : "98967",
            "display" : "Schnyder corneal dystrophy"
          },
          {
            "code" : "98969",
            "display" : "Macular corneal dystrophy"
          },
          {
            "code" : "98970",
            "display" : "Fleck corneal dystrophy"
          },
          {
            "code" : "98971",
            "display" : "Posterior amorphous corneal dystrophy"
          },
          {
            "code" : "98972",
            "display" : "Central cloudy dystrophy of François"
          },
          {
            "code" : "98973",
            "display" : "Posterior polymorphous corneal dystrophy"
          },
          {
            "code" : "98974",
            "display" : "Fuchs endothelial corneal dystrophy"
          },
          {
            "code" : "98975",
            "display" : "Congenital hereditary endothelial dystrophy type I"
          },
          {
            "code" : "98976",
            "display" : "Congenital glaucoma"
          },
          {
            "code" : "98977",
            "display" : "Juvenile glaucoma"
          },
          {
            "code" : "98978",
            "display" : "Axenfeld anomaly"
          },
          {
            "code" : "98979",
            "display" : "Chandler syndrome"
          },
          {
            "code" : "98980",
            "display" : "Cogan-Reese syndrome"
          },
          {
            "code" : "98981",
            "display" : "Essential iris atrophy"
          },
          {
            "code" : "98984",
            "display" : "Pulverulent cataract"
          },
          {
            "code" : "98985",
            "display" : "Early-onset sutural cataract"
          },
          {
            "code" : "98988",
            "display" : "Early-onset anterior polar cataract"
          },
          {
            "code" : "98989",
            "display" : "Cerulean cataract"
          },
          {
            "code" : "98990",
            "display" : "Coralliform cataract"
          },
          {
            "code" : "98991",
            "display" : "Early-onset nuclear cataract"
          },
          {
            "code" : "98992",
            "display" : "Early-onset partial cataract"
          },
          {
            "code" : "98993",
            "display" : "Early-onset posterior polar cataract"
          },
          {
            "code" : "98994",
            "display" : "Total early-onset cataract"
          },
          {
            "code" : "98995",
            "display" : "Early-onset zonular cataract"
          },
          {
            "code" : "990",
            "display" : "Agnathia-holoprosencephaly-situs inversus syndrome"
          },
          {
            "code" : "99000",
            "display" : "Adult-onset foveomacular vitelliform dystrophy"
          },
          {
            "code" : "99001",
            "display" : "Butterfly-shaped pigment dystrophy"
          },
          {
            "code" : "99002",
            "display" : "Reticular dystrophy of the retinal pigment epithelium"
          },
          {
            "code" : "99003",
            "display" : "Multifocal pattern dystrophy simulating fundus flavimaculatus"
          },
          {
            "code" : "99004",
            "display" : "Fundus pulverulentus"
          },
          {
            "code" : "99013",
            "display" : "Spastic paraplegia type 7"
          },
          {
            "code" : "99014",
            "display" : "X-linked Charcot-Marie-Tooth disease type 5"
          },
          {
            "code" : "99015",
            "display" : "Spastic paraplegia type 2"
          },
          {
            "code" : "99027",
            "display" : "Adult-onset autosomal dominant leukodystrophy"
          },
          {
            "code" : "99042",
            "display" : "Congenitally uncorrected transposition of the great arteries with coarctation"
          },
          {
            "code" : "99043",
            "display" : "Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis"
          },
          {
            "code" : "99045",
            "display" : "Double outlet right ventricle with subpulmonary ventricular septal defect"
          },
          {
            "code" : "99046",
            "display" : "Double outlet right ventricle with non-committed subpulmonary ventricular septal defect"
          },
          {
            "code" : "99048",
            "display" : "Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome"
          },
          {
            "code" : "99049",
            "display" : "Pulmonary artery coming from patent ductus arteriosus"
          },
          {
            "code" : "99050",
            "display" : "Abnormal origin of right or left pulmonary artery from the aorta"
          },
          {
            "code" : "99051",
            "display" : "Discrete fixed membranous subaortic stenosis"
          },
          {
            "code" : "99052",
            "display" : "Discrete fibromuscular subaortic stenosis"
          },
          {
            "code" : "99053",
            "display" : "Tunnel subaortic stenosis"
          },
          {
            "code" : "99054",
            "display" : "Valvular pulmonary stenosis"
          },
          {
            "code" : "99055",
            "display" : "Congenital anomaly of the tricuspid valve chordae"
          },
          {
            "code" : "99056",
            "display" : "Parachute tricuspid valve"
          },
          {
            "code" : "99057",
            "display" : "Congenital mitral stenosis"
          },
          {
            "code" : "99058",
            "display" : "Hypoplasia of the mitral valve annulus"
          },
          {
            "code" : "99059",
            "display" : "Congenital supravalvular mitral ring"
          },
          {
            "code" : "99060",
            "display" : "Congenital unguarded mitral orifice"
          },
          {
            "code" : "99061",
            "display" : "Accessory mitral valve tissue"
          },
          {
            "code" : "99062",
            "display" : "Mitral valve agenesis"
          },
          {
            "code" : "99063",
            "display" : "Shone complex"
          },
          {
            "code" : "99064",
            "display" : "Straddling and/or overriding mitral valve"
          },
          {
            "code" : "99067",
            "display" : "Complete atrioventricular septal defect with ventricular hypoplasia"
          },
          {
            "code" : "99068",
            "display" : "Complete atrioventricular septal defect-tetralogy of Fallot"
          },
          {
            "code" : "99070",
            "display" : "Aorto-right ventricular tunnel"
          },
          {
            "code" : "99071",
            "display" : "Aorto-left ventricular tunnel"
          },
          {
            "code" : "99072",
            "display" : "Congenital patent ductus arteriosus aneurysm"
          },
          {
            "code" : "99075",
            "display" : "Encircling double aortic arch"
          },
          {
            "code" : "99076",
            "display" : "Persistent fifth aortic arch"
          },
          {
            "code" : "99077",
            "display" : "Kommerell diverticulum"
          },
          {
            "code" : "99078",
            "display" : "Neuhauser anomaly"
          },
          {
            "code" : "99079",
            "display" : "Cervical aortic arch"
          },
          {
            "code" : "99081",
            "display" : "Right aortic arch"
          },
          {
            "code" : "99082",
            "display" : "Dysphagia lusoria"
          },
          {
            "code" : "99083",
            "display" : "Pulmonary artery hypoplasia"
          },
          {
            "code" : "99084",
            "display" : "Peripheral pulmonary stenosis"
          },
          {
            "code" : "99087",
            "display" : "Coronary ostial stenosis or atresia"
          },
          {
            "code" : "99089",
            "display" : "Abnormal number of coronary ostia"
          },
          {
            "code" : "99090",
            "display" : "Malposition of a coronary ostium"
          },
          {
            "code" : "99092",
            "display" : "Interventricular septum aneurysm"
          },
          {
            "code" : "99094",
            "display" : "Laubry-Pezzi syndrome"
          },
          {
            "code" : "99095",
            "display" : "Congenital Gerbode defect"
          },
          {
            "code" : "99098",
            "display" : "Cor triatriatum dexter"
          },
          {
            "code" : "99099",
            "display" : "Cor triatriatum sinister"
          },
          {
            "code" : "991",
            "display" : "PAGOD syndrome"
          },
          {
            "code" : "99100",
            "display" : "Juxtaposition of the atrial appendages"
          },
          {
            "code" : "99101",
            "display" : "Ectasia of the right atrial appendage"
          },
          {
            "code" : "99102",
            "display" : "Ectasia of the left atrial appendage"
          },
          {
            "code" : "99103",
            "display" : "Atrial septal defect, ostium secundum type"
          },
          {
            "code" : "99104",
            "display" : "Atrial septal defect, coronary sinus type"
          },
          {
            "code" : "99105",
            "display" : "Atrial septal defect, sinus venosus type"
          },
          {
            "code" : "99106",
            "display" : "Atrial septal defect, ostium primum type"
          },
          {
            "code" : "99107",
            "display" : "Atrial septal aneurysm"
          },
          {
            "code" : "99109",
            "display" : "Persistent left superior vena cava connecting through coronary sinus to left-sided atrium"
          },
          {
            "code" : "99110",
            "display" : "Right superior vena cava connecting to left-sided atrium"
          },
          {
            "code" : "99111",
            "display" : "Persistent left superior vena cava connecting to the roof of left-sided atrium"
          },
          {
            "code" : "99112",
            "display" : "Absence of innominate vein"
          },
          {
            "code" : "99113",
            "display" : "Subaortic course of innominate vein"
          },
          {
            "code" : "99114",
            "display" : "Agenesis of the superior vena cava"
          },
          {
            "code" : "99117",
            "display" : "Coronary sinus stenosis"
          },
          {
            "code" : "99118",
            "display" : "Coronary sinus atresia"
          },
          {
            "code" : "99119",
            "display" : "Right inferior vena cava connecting to left-sided atrium"
          },
          {
            "code" : "99120",
            "display" : "Persistent eustachian valve"
          },
          {
            "code" : "99121",
            "display" : "Azygos continuation of the inferior vena cava"
          },
          {
            "code" : "99122",
            "display" : "Congenital stenosis of the inferior vena cava"
          },
          {
            "code" : "99123",
            "display" : "Inferior vena cava interruption without azygos continuation"
          },
          {
            "code" : "99124",
            "display" : "Congenital partial pulmonary venous return anomaly"
          },
          {
            "code" : "99125",
            "display" : "Congenital total pulmonary venous return anomaly"
          },
          {
            "code" : "99126",
            "display" : "Congenital pulmonary vein atresia"
          },
          {
            "code" : "99129",
            "display" : "Congenital complete agenesis of pericardium"
          },
          {
            "code" : "99130",
            "display" : "Congenital partial agenesis of pericardium"
          },
          {
            "code" : "99131",
            "display" : "Pleuro-pericardial cyst"
          },
          {
            "code" : "99135",
            "display" : "6-phosphogluconate dehydrogenase deficiency"
          },
          {
            "code" : "99138",
            "display" : "Hemolytic anemia due to erythrocyte adenosine deaminase overproduction"
          },
          {
            "code" : "99139",
            "display" : "Unstable hemoglobin disease"
          },
          {
            "code" : "99141",
            "display" : "Lymphedema-posterior choanal atresia syndrome"
          },
          {
            "code" : "99147",
            "display" : "Acquired von Willebrand syndrome"
          },
          {
            "code" : "99169",
            "display" : "Epiblepharon"
          },
          {
            "code" : "99170",
            "display" : "Tarsal kink syndrome"
          },
          {
            "code" : "99171",
            "display" : "Isolated congenital ectropion"
          },
          {
            "code" : "99172",
            "display" : "Euryblepharon"
          },
          {
            "code" : "99176",
            "display" : "Congenital eyelid retraction"
          },
          {
            "code" : "99177",
            "display" : "Isolated distichiasis"
          },
          {
            "code" : "99179",
            "display" : "Kandori fleck retina"
          },
          {
            "code" : "99226",
            "display" : "Monosomy X"
          },
          {
            "code" : "99228",
            "display" : "Mosaic monosomy X"
          },
          {
            "code" : "99324",
            "display" : "Paternal uniparental disomy of chromosome 13"
          },
          {
            "code" : "99329",
            "display" : "48,XYYY syndrome"
          },
          {
            "code" : "99330",
            "display" : "49,XYYYY syndrome"
          },
          {
            "code" : "99361",
            "display" : "Familial medullary thyroid carcinoma"
          },
          {
            "code" : "994",
            "display" : "Fetal akinesia deformation sequence"
          },
          {
            "code" : "99413",
            "display" : "Turner syndrome due to structural X chromosome anomalies"
          },
          {
            "code" : "99429",
            "display" : "Complete androgen insensitivity syndrome"
          },
          {
            "code" : "99642",
            "display" : "Spondyloepimetaphyseal dysplasia, Handigodu type"
          },
          {
            "code" : "99646",
            "display" : "Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria"
          },
          {
            "code" : "99647",
            "display" : "Cheirospondyloenchondromatosis"
          },
          {
            "code" : "99657",
            "display" : "Primary dystonia, DYT2 type"
          },
          {
            "code" : "99672",
            "display" : "Fried's tooth and nail syndrome"
          },
          {
            "code" : "99688",
            "display" : "Dermotrichic syndrome"
          },
          {
            "code" : "99701",
            "display" : "Mesial temporal lobe epilepsy with hippocampal sclerosis"
          },
          {
            "code" : "99704",
            "display" : "Early-onset obesity-hyperphagia-severe developmental delay syndrome"
          },
          {
            "code" : "99710",
            "display" : "Punctate acrokeratoderma freckle-like pigmentation"
          },
          {
            "code" : "99718",
            "display" : "Leber plus disease"
          },
          {
            "code" : "99725",
            "display" : "Pituitary gigantism"
          },
          {
            "code" : "99731",
            "display" : "Isolated sulfite oxidase deficiency"
          },
          {
            "code" : "99732",
            "display" : "Sulfite oxidase deficiency due to molybdenum cofactor deficiency"
          },
          {
            "code" : "99734",
            "display" : "Myotonia fluctuans"
          },
          {
            "code" : "99735",
            "display" : "Myotonia permanens"
          },
          {
            "code" : "99736",
            "display" : "Acetazolamide-responsive myotonia"
          },
          {
            "code" : "99741",
            "display" : "King-Denborough syndrome"
          },
          {
            "code" : "99742",
            "display" : "Amish lethal microcephaly"
          },
          {
            "code" : "99745",
            "display" : "Typhoid"
          },
          {
            "code" : "99748",
            "display" : "Pontiac fever"
          },
          {
            "code" : "99749",
            "display" : "Kostmann syndrome"
          },
          {
            "code" : "99750",
            "display" : "Atypical progressive supranuclear palsy syndrome"
          },
          {
            "code" : "99756",
            "display" : "Alveolar rhabdomyosarcoma"
          },
          {
            "code" : "99757",
            "display" : "Embryonal rhabdomyosarcoma"
          },
          {
            "code" : "99771",
            "display" : "Bifid uvula"
          },
          {
            "code" : "99772",
            "display" : "Cleft velum"
          },
          {
            "code" : "99776",
            "display" : "Mosaic trisomy 9"
          },
          {
            "code" : "99789",
            "display" : "Dentin dysplasia type I"
          },
          {
            "code" : "99791",
            "display" : "Dentin dysplasia type II"
          },
          {
            "code" : "99792",
            "display" : "Dentin dysplasia-sclerotic bones syndrome"
          },
          {
            "code" : "99796",
            "display" : "Subcortical band heterotopia"
          },
          {
            "code" : "99797",
            "display" : "Anodontia"
          },
          {
            "code" : "99798",
            "display" : "Oligodontia"
          },
          {
            "code" : "998",
            "display" : "Albinism-deafness syndrome"
          },
          {
            "code" : "99802",
            "display" : "Hemimegalencephaly"
          },
          {
            "code" : "99803",
            "display" : "Haddad syndrome"
          },
          {
            "code" : "99806",
            "display" : "Oculootodental syndrome"
          },
          {
            "code" : "99807",
            "display" : "PEHO-like syndrome"
          },
          {
            "code" : "99810",
            "display" : "Familial porencephaly"
          },
          {
            "code" : "99811",
            "display" : "Neuronal intestinal pseudoobstruction"
          },
          {
            "code" : "99812",
            "display" : "LIG4 syndrome"
          },
          {
            "code" : "99818",
            "display" : "Turcot syndrome with polyposis"
          },
          {
            "code" : "99819",
            "display" : "Familial gestational hyperthyroidism"
          },
          {
            "code" : "99824",
            "display" : "Lassa fever"
          },
          {
            "code" : "99825",
            "display" : "Nipah virus disease"
          },
          {
            "code" : "99826",
            "display" : "Marburg hemorrhagic fever"
          },
          {
            "code" : "99827",
            "display" : "Crimean-Congo hemorrhagic fever"
          },
          {
            "code" : "99828",
            "display" : "Dengue fever"
          },
          {
            "code" : "99829",
            "display" : "Yellow fever"
          },
          {
            "code" : "99832",
            "display" : "Resistance to thyrotropin-releasing hormone syndrome"
          },
          {
            "code" : "99842",
            "display" : "Leukocyte adhesion deficiency type I"
          },
          {
            "code" : "99843",
            "display" : "Leukocyte adhesion deficiency type II"
          },
          {
            "code" : "99844",
            "display" : "Leukocyte adhesion deficiency type III"
          },
          {
            "code" : "99845",
            "display" : "Genetic recurrent myoglobinuria"
          },
          {
            "code" : "99846",
            "display" : "Autosomal dominant myoglobinuria"
          },
          {
            "code" : "99849",
            "display" : "Glycogen storage disease due to muscle beta-enolase deficiency"
          },
          {
            "code" : "99852",
            "display" : "Ravine syndrome"
          },
          {
            "code" : "99853",
            "display" : "Ovarioleukodystrophy"
          },
          {
            "code" : "99854",
            "display" : "Cree leukoencephalopathy"
          },
          {
            "code" : "99856",
            "display" : "Primary syringomyelia"
          },
          {
            "code" : "99857",
            "display" : "Secondary syringomyelia"
          },
          {
            "code" : "99858",
            "display" : "Idiopathic syringomyelia"
          },
          {
            "code" : "99860",
            "display" : "Precursor B-cell acute lymphoblastic leukemia"
          },
          {
            "code" : "99861",
            "display" : "Precursor T-cell acute lymphoblastic leukemia"
          },
          {
            "code" : "99865",
            "display" : "Spermatocytic seminoma"
          },
          {
            "code" : "99867",
            "display" : "Thymoma"
          },
          {
            "code" : "99868",
            "display" : "Thymic carcinoma"
          },
          {
            "code" : "99869",
            "display" : "Thymic neuroendocrine carcinoma"
          },
          {
            "code" : "99879",
            "display" : "Familial isolated hyperparathyroidism"
          },
          {
            "code" : "99880",
            "display" : "Hyperparathyroidism-jaw tumor syndrome"
          },
          {
            "code" : "99885",
            "display" : "Isolated permanent neonatal diabetes mellitus"
          },
          {
            "code" : "99886",
            "display" : "Transient neonatal diabetes mellitus"
          },
          {
            "code" : "99887",
            "display" : "Acute megakaryoblastic leukemia in Down syndrome"
          },
          {
            "code" : "99889",
            "display" : "Cushing syndrome due to ectopic ACTH secretion"
          },
          {
            "code" : "99898",
            "display" : "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency"
          },
          {
            "code" : "999",
            "display" : "Ermine phenotype"
          },
          {
            "code" : "99901",
            "display" : "Acyl-CoA dehydrogenase 9 deficiency"
          },
          {
            "code" : "99903",
            "display" : "Spirillary rat-bite fever"
          },
          {
            "code" : "99905",
            "display" : "Streptobacillary rat-bite fever"
          },
          {
            "code" : "99906",
            "display" : "Farmer's lung disease"
          },
          {
            "code" : "99907",
            "display" : "House allergic alveolitis"
          },
          {
            "code" : "99908",
            "display" : "Pigeon-breeder lung disease"
          },
          {
            "code" : "99912",
            "display" : "Malignant dysgerminomatous germ cell tumor of the ovary"
          },
          {
            "code" : "99914",
            "display" : "Gynandroblastoma"
          },
          {
            "code" : "99915",
            "display" : "Maligant granulosa cell tumor of the ovary"
          },
          {
            "code" : "99916",
            "display" : "Malignant Sertoli-Leydig cell tumor of the ovary"
          },
          {
            "code" : "99917",
            "display" : "Theca steroid-producing cell malignant tumor of ovary, not further specified"
          },
          {
            "code" : "99918",
            "display" : "Streptococcal toxic-shock syndrome"
          },
          {
            "code" : "99919",
            "display" : "Staphylococcal toxic-shock syndrome"
          },
          {
            "code" : "99920",
            "display" : "Acute graft versus host disease"
          },
          {
            "code" : "99921",
            "display" : "Chronic graft versus host disease"
          },
          {
            "code" : "99922",
            "display" : "Ocular cicatricial pemphigoid"
          },
          {
            "code" : "99925",
            "display" : "Invasive mole"
          },
          {
            "code" : "99926",
            "display" : "Gestational choriocarcinoma"
          },
          {
            "code" : "99927",
            "display" : "Hydatidiform mole"
          },
          {
            "code" : "99928",
            "display" : "Placental site trophoblastic tumor"
          },
          {
            "code" : "99930",
            "display" : "Secondary pulmonary hemosiderosis"
          },
          {
            "code" : "99931",
            "display" : "Idiopathic pulmonary hemosiderosis"
          },
          {
            "code" : "99932",
            "display" : "Heiner syndrome"
          },
          {
            "code" : "99933",
            "display" : "Pleuropulmonary blastoma type 1"
          },
          {
            "code" : "99934",
            "display" : "Pleuropulmonary blastoma type 2"
          },
          {
            "code" : "99935",
            "display" : "Pleuropulmonary blastoma type 3"
          },
          {
            "code" : "99936",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2B"
          },
          {
            "code" : "99937",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2C"
          },
          {
            "code" : "99938",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2D"
          },
          {
            "code" : "99939",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2E"
          },
          {
            "code" : "99940",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2F"
          },
          {
            "code" : "99941",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2G"
          },
          {
            "code" : "99942",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2I"
          },
          {
            "code" : "99943",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2J"
          },
          {
            "code" : "99944",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2K"
          },
          {
            "code" : "99945",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2L"
          },
          {
            "code" : "99946",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2A1"
          },
          {
            "code" : "99947",
            "display" : "Autosomal dominant Charcot-Marie-Tooth disease type 2A2"
          },
          {
            "code" : "99948",
            "display" : "Charcot-Marie-Tooth disease type 4A"
          },
          {
            "code" : "99949",
            "display" : "Charcot-Marie-Tooth disease type 4C"
          },
          {
            "code" : "99950",
            "display" : "Charcot-Marie-Tooth disease type 4D"
          },
          {
            "code" : "99951",
            "display" : "Charcot-Marie-Tooth disease type 4E"
          },
          {
            "code" : "99952",
            "display" : "Charcot-Marie-Tooth disease type 4F"
          },
          {
            "code" : "99953",
            "display" : "Charcot-Marie-Tooth disease type 4G"
          },
          {
            "code" : "99954",
            "display" : "Charcot-Marie-Tooth disease type 4H"
          },
          {
            "code" : "99955",
            "display" : "Charcot-Marie-Tooth disease type 4B1"
          },
          {
            "code" : "99956",
            "display" : "Charcot-Marie-Tooth disease type 4B2"
          },
          {
            "code" : "99960",
            "display" : "Benign recurrent intrahepatic cholestasis type 1"
          },
          {
            "code" : "99961",
            "display" : "Benign recurrent intrahepatic cholestasis type 2"
          },
          {
            "code" : "99965",
            "display" : "O'Sullivan-McLeod syndrome"
          },
          {
            "code" : "99966",
            "display" : "Atypical teratoid rhabdoid tumor"
          },
          {
            "code" : "99967",
            "display" : "Myxoid/round cell liposarcoma"
          },
          {
            "code" : "99969",
            "display" : "Pleomorphic liposarcoma"
          },
          {
            "code" : "99970",
            "display" : "Dedifferentiated liposarcoma"
          },
          {
            "code" : "99971",
            "display" : "Well-differentiated liposarcoma"
          },
          {
            "code" : "99976",
            "display" : "Adenocarcinoma of the esophagus"
          },
          {
            "code" : "99977",
            "display" : "Squamous cell carcinoma of the esophagus"
          },
          {
            "code" : "99978",
            "display" : "Klatskin tumor"
          },
          {
            "code" : "99981",
            "display" : "Apnea of prematurity"
          },
          {
            "code" : "99989",
            "display" : "Intermediate DEND syndrome"
          },
          {
            "code" : "99990",
            "display" : "Brill-Zinsser disease"
          },
          {
            "code" : "99991",
            "display" : "Relapsing epidemic typhus"
          },
          {
            "code" : "99994",
            "display" : "Complex regional pain syndrome type 2"
          },
          {
            "code" : "99995",
            "display" : "Complex regional pain syndrome type 1"
          }
        ]
      }
    ]
  }
}