Upload 5 files
Browse filesrare disease patient data
- RDpatient_data/PUMCH/PUMCH_ADM.json +2338 -0
- RDpatient_data/Public/HMS.json +2493 -0
- RDpatient_data/Public/LIRICAL.json +0 -0
- RDpatient_data/Public/MME.json +797 -0
- RDpatient_data/Public/RAMEDIS.json +0 -0
RDpatient_data/PUMCH/PUMCH_ADM.json
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| 1 |
+
[
|
| 2 |
+
[
|
| 3 |
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[
|
| 4 |
+
"HP:0000722",
|
| 5 |
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"HP:0000750",
|
| 6 |
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"HP:0001319",
|
| 7 |
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"HP:0001350",
|
| 8 |
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"HP:0001530",
|
| 9 |
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"HP:0001558",
|
| 10 |
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"HP:0001612",
|
| 11 |
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"HP:0002033",
|
| 12 |
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"HP:0002577",
|
| 13 |
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"HP:0004324",
|
| 14 |
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"HP:0011951",
|
| 15 |
+
"HP:0030748",
|
| 16 |
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"HP:0040217"
|
| 17 |
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],
|
| 18 |
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[
|
| 19 |
+
"CCRD:93",
|
| 20 |
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"OMIM:176270",
|
| 21 |
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"ORPHA:739"
|
| 22 |
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|
| 23 |
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|
| 24 |
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[
|
| 25 |
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[
|
| 26 |
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"HP:0000028",
|
| 27 |
+
"HP:0000670",
|
| 28 |
+
"HP:0001262",
|
| 29 |
+
"HP:0001618",
|
| 30 |
+
"HP:0008947",
|
| 31 |
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"HP:0011968",
|
| 32 |
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"HP:0012420"
|
| 33 |
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|
| 34 |
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[
|
| 35 |
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"CCRD:93",
|
| 36 |
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"OMIM:176270",
|
| 37 |
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|
| 38 |
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|
| 39 |
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|
| 40 |
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[
|
| 41 |
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[
|
| 42 |
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|
| 43 |
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|
| 44 |
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"HP:0001319",
|
| 45 |
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"HP:0001511",
|
| 46 |
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"HP:0001788",
|
| 47 |
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|
| 48 |
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|
| 49 |
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|
| 50 |
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|
| 51 |
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|
| 52 |
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|
| 53 |
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[
|
| 54 |
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|
| 55 |
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|
| 56 |
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|
| 57 |
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|
| 58 |
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|
| 59 |
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|
| 60 |
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|
| 61 |
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|
| 62 |
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|
| 63 |
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|
| 64 |
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|
| 65 |
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|
| 66 |
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|
| 67 |
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[
|
| 68 |
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|
| 69 |
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|
| 70 |
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|
| 71 |
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|
| 72 |
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|
| 73 |
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|
| 74 |
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[
|
| 75 |
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|
| 76 |
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|
| 77 |
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|
| 78 |
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|
| 79 |
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|
| 80 |
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|
| 81 |
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|
| 82 |
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|
| 83 |
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|
| 84 |
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| 85 |
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|
| 86 |
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|
| 87 |
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|
| 88 |
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|
| 89 |
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|
| 90 |
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|
| 91 |
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|
| 92 |
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|
| 93 |
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|
| 94 |
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|
| 95 |
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|
| 96 |
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|
| 97 |
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|
| 98 |
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|
| 99 |
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|
| 100 |
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|
| 101 |
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|
| 102 |
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|
| 103 |
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|
| 104 |
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|
| 105 |
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|
| 106 |
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|
| 107 |
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|
| 108 |
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|
| 109 |
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|
| 110 |
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|
| 111 |
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|
| 112 |
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|
| 113 |
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|
| 114 |
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|
| 115 |
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|
| 116 |
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| 117 |
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| 118 |
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| 119 |
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| 120 |
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| 121 |
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| 122 |
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| 123 |
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| 124 |
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| 125 |
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| 126 |
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| 127 |
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| 128 |
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| 129 |
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| 130 |
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| 131 |
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|
| 132 |
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|
| 133 |
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|
| 134 |
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| 135 |
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|
| 136 |
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|
| 137 |
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|
| 138 |
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|
| 139 |
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|
| 140 |
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| 141 |
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| 142 |
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|
| 143 |
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|
| 144 |
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|
| 145 |
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|
| 146 |
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|
| 147 |
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|
| 148 |
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|
| 149 |
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|
| 150 |
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|
| 151 |
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|
| 152 |
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| 153 |
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|
| 154 |
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|
| 155 |
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|
| 156 |
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|
| 157 |
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|
| 158 |
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[
|
| 159 |
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|
| 160 |
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|
| 161 |
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|
| 162 |
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|
| 163 |
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|
| 164 |
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[
|
| 165 |
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[
|
| 166 |
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"HP:0000790",
|
| 167 |
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|
| 168 |
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"HP:0001392",
|
| 169 |
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"HP:0002015",
|
| 170 |
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"HP:0002307",
|
| 171 |
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"HP:0002339",
|
| 172 |
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"HP:0002378",
|
| 173 |
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"HP:0004396",
|
| 174 |
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|
| 175 |
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|
| 176 |
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|
| 177 |
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|
| 178 |
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[
|
| 179 |
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|
| 180 |
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|
| 181 |
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|
| 182 |
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|
| 183 |
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|
| 184 |
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[
|
| 185 |
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[
|
| 186 |
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"OMIM:604400",
|
| 627 |
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|
| 628 |
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"OMIM:602087",
|
| 629 |
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"OMIM:602086",
|
| 630 |
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"OMIM:604401",
|
| 631 |
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"ORPHA:98909",
|
| 632 |
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"CCRD:52.2",
|
| 633 |
+
"OMIM:615616"
|
| 634 |
+
]
|
| 635 |
+
],
|
| 636 |
+
[
|
| 637 |
+
[
|
| 638 |
+
"HP:0001663",
|
| 639 |
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"HP:0002090",
|
| 640 |
+
"HP:0002094",
|
| 641 |
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"HP:0003546",
|
| 642 |
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"HP:0006562",
|
| 643 |
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"HP:0012251",
|
| 644 |
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"HP:0012735"
|
| 645 |
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],
|
| 646 |
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[
|
| 647 |
+
"OMIM:611777",
|
| 648 |
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"OMIM:601144",
|
| 649 |
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"OMIM:613119",
|
| 650 |
+
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|
| 651 |
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"OMIM:611876",
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| 652 |
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"OMIM:613123",
|
| 653 |
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"OMIM:616399",
|
| 654 |
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"CCRD:14.3",
|
| 655 |
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"OMIM:613120",
|
| 656 |
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"OMIM:611875",
|
| 657 |
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"ORPHA:130"
|
| 658 |
+
]
|
| 659 |
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],
|
| 660 |
+
[
|
| 661 |
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[
|
| 662 |
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"HP:0000211",
|
| 663 |
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"HP:0000975",
|
| 664 |
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"HP:0001279",
|
| 665 |
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"HP:0002013",
|
| 666 |
+
"HP:0007185",
|
| 667 |
+
"HP:0011712",
|
| 668 |
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"HP:0012251"
|
| 669 |
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],
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[
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| 671 |
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"OMIM:611777",
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| 672 |
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"OMIM:601144",
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| 673 |
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"OMIM:613119",
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| 674 |
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"OMIM:612838",
|
| 675 |
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"OMIM:611876",
|
| 676 |
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"OMIM:613123",
|
| 677 |
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"OMIM:616399",
|
| 678 |
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"CCRD:14.3",
|
| 679 |
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"OMIM:613120",
|
| 680 |
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"OMIM:611875",
|
| 681 |
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"ORPHA:130"
|
| 682 |
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]
|
| 683 |
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],
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| 684 |
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[
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| 685 |
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[
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| 686 |
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| 687 |
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"HP:0000020",
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| 688 |
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"HP:0000024",
|
| 689 |
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"HP:0001279",
|
| 690 |
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"HP:0001324",
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| 691 |
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"HP:0003236",
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| 692 |
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"HP:0003546",
|
| 693 |
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"HP:0007185",
|
| 694 |
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"HP:0010741",
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| 695 |
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"HP:0012251",
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| 696 |
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"HP:0032232",
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| 697 |
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"HP:0100518",
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| 698 |
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"HP:0100576"
|
| 699 |
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],
|
| 700 |
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[
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| 701 |
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"OMIM:611777",
|
| 702 |
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|
| 703 |
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"OMIM:613119",
|
| 704 |
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|
| 705 |
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"OMIM:611876",
|
| 706 |
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"OMIM:613123",
|
| 707 |
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|
| 708 |
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"CCRD:14.3",
|
| 709 |
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"OMIM:613120",
|
| 710 |
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"OMIM:611875",
|
| 711 |
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"ORPHA:130"
|
| 712 |
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]
|
| 713 |
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],
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| 714 |
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[
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| 715 |
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[
|
| 716 |
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"HP:0001324",
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| 717 |
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"HP:0001698",
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| 718 |
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"HP:0001702",
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| 719 |
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"HP:0001962",
|
| 720 |
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"HP:0002013",
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| 721 |
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"HP:0002027",
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| 722 |
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"HP:0002094",
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| 723 |
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"HP:0003546",
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| 724 |
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"HP:0004396",
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| 725 |
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"HP:0004948",
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| 726 |
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"HP:0005110",
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| 727 |
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| 728 |
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"HP:0010741",
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| 729 |
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"HP:0011712",
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| 730 |
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"HP:0012249",
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| 731 |
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"HP:0025169",
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| 732 |
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"HP:0030718",
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| 733 |
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"HP:0031185",
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| 734 |
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"HP:0031295",
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| 735 |
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"HP:3000063"
|
| 736 |
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],
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| 737 |
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[
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| 738 |
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"OMIM:115210",
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| 739 |
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| 740 |
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|
| 741 |
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"OMIM:615248",
|
| 742 |
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"OMIM:617047"
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| 743 |
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]
|
| 744 |
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],
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| 746 |
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| 747 |
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| 748 |
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| 749 |
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"HP:0001639",
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| 750 |
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| 751 |
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"HP:0001712",
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| 752 |
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| 753 |
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| 754 |
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| 755 |
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| 756 |
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| 757 |
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| 758 |
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| 759 |
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"HP:0003573",
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| 760 |
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"HP:0005110",
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| 761 |
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"HP:0005133",
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| 762 |
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"HP:0005135",
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| 763 |
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| 764 |
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"HP:0005180",
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| 765 |
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"HP:0006682",
|
| 766 |
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"HP:0010741",
|
| 767 |
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"HP:0011712",
|
| 768 |
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|
| 769 |
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"HP:0012667",
|
| 770 |
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"HP:0025168",
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| 771 |
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"HP:0030718",
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| 772 |
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"HP:0031138",
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| 773 |
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"HP:0031245",
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| 774 |
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"HP:0031295",
|
| 775 |
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"HP:0100518",
|
| 776 |
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"HP:0100749"
|
| 777 |
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],
|
| 778 |
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[
|
| 779 |
+
"OMIM:115210",
|
| 780 |
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"CCRD:52.3",
|
| 781 |
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"OMIM:612422",
|
| 782 |
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"OMIM:615248",
|
| 783 |
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"OMIM:617047"
|
| 784 |
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]
|
| 785 |
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],
|
| 786 |
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[
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| 787 |
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[
|
| 788 |
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|
| 789 |
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"HP:0001342",
|
| 790 |
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"HP:0001541",
|
| 791 |
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"HP:0001633",
|
| 792 |
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"HP:0001640",
|
| 793 |
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"HP:0001698",
|
| 794 |
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"HP:0001702",
|
| 795 |
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"HP:0001708",
|
| 796 |
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"HP:0001747",
|
| 797 |
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"HP:0002027",
|
| 798 |
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"HP:0002092",
|
| 799 |
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"HP:0002094",
|
| 800 |
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"HP:0002202",
|
| 801 |
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"HP:0002209",
|
| 802 |
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"HP:0002240",
|
| 803 |
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"HP:0002908",
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| 804 |
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"HP:0003324",
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| 805 |
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"HP:0003546",
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| 806 |
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"HP:0003573",
|
| 807 |
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"HP:0004754",
|
| 808 |
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"HP:0004927",
|
| 809 |
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"HP:0005345",
|
| 810 |
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"HP:0006673",
|
| 811 |
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"HP:0010741",
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| 812 |
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"HP:0011037",
|
| 813 |
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"HP:0012664",
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| 814 |
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"HP:0025168",
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| 815 |
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"HP:0030718",
|
| 816 |
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"HP:0031185",
|
| 817 |
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"HP:0031295"
|
| 818 |
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],
|
| 819 |
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[
|
| 820 |
+
"OMIM:115210",
|
| 821 |
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"CCRD:52.3",
|
| 822 |
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"OMIM:612422",
|
| 823 |
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"OMIM:615248",
|
| 824 |
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"OMIM:617047"
|
| 825 |
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]
|
| 826 |
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],
|
| 827 |
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[
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| 828 |
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[
|
| 829 |
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"HP:0001028",
|
| 830 |
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"HP:0001258",
|
| 831 |
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"HP:0002355",
|
| 832 |
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"HP:0003445",
|
| 833 |
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"HP:0003487",
|
| 834 |
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"HP:0003698",
|
| 835 |
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"HP:0006135",
|
| 836 |
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"HP:0006801",
|
| 837 |
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"HP:0007340",
|
| 838 |
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"HP:0012651",
|
| 839 |
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"HP:0100711"
|
| 840 |
+
],
|
| 841 |
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[
|
| 842 |
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"OMIM:105400",
|
| 843 |
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"OMIM:617892",
|
| 844 |
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"OMIM:602099",
|
| 845 |
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"OMIM:205100",
|
| 846 |
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"OMIM:611895",
|
| 847 |
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"OMIM:614373",
|
| 848 |
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"OMIM:613954",
|
| 849 |
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"OMIM:614808",
|
| 850 |
+
"ORPHA:357043",
|
| 851 |
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"OMIM:608627",
|
| 852 |
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"OMIM:617921",
|
| 853 |
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"ORPHA:300605",
|
| 854 |
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"OMIM:183090",
|
| 855 |
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"OMIM:612069",
|
| 856 |
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"OMIM:614696",
|
| 857 |
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"OMIM:616208",
|
| 858 |
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"OMIM:615426",
|
| 859 |
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"OMIM:602433",
|
| 860 |
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"OMIM:300857",
|
| 861 |
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"OMIM:608030",
|
| 862 |
+
"OMIM:606070",
|
| 863 |
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"ORPHA:803",
|
| 864 |
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"OMIM:612577",
|
| 865 |
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"OMIM:613435",
|
| 866 |
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"CCRD:4",
|
| 867 |
+
"OMIM:615515",
|
| 868 |
+
"OMIM:617839",
|
| 869 |
+
"OMIM:606640"
|
| 870 |
+
]
|
| 871 |
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],
|
| 872 |
+
[
|
| 873 |
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[
|
| 874 |
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"HP:0001350",
|
| 875 |
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"HP:0002500",
|
| 876 |
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"HP:0002637",
|
| 877 |
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"HP:0002679",
|
| 878 |
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"HP:0003319",
|
| 879 |
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"HP:0003416",
|
| 880 |
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"HP:0003445",
|
| 881 |
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"HP:0003484",
|
| 882 |
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"HP:0005108",
|
| 883 |
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"HP:0012513",
|
| 884 |
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"HP:0012735",
|
| 885 |
+
"HP:0030811"
|
| 886 |
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],
|
| 887 |
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[
|
| 888 |
+
"OMIM:105400",
|
| 889 |
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"OMIM:617892",
|
| 890 |
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"OMIM:602099",
|
| 891 |
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"OMIM:205100",
|
| 892 |
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"OMIM:611895",
|
| 893 |
+
"OMIM:614373",
|
| 894 |
+
"OMIM:613954",
|
| 895 |
+
"OMIM:614808",
|
| 896 |
+
"ORPHA:357043",
|
| 897 |
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"OMIM:608627",
|
| 898 |
+
"OMIM:617921",
|
| 899 |
+
"ORPHA:300605",
|
| 900 |
+
"OMIM:183090",
|
| 901 |
+
"OMIM:612069",
|
| 902 |
+
"OMIM:614696",
|
| 903 |
+
"OMIM:616208",
|
| 904 |
+
"OMIM:615426",
|
| 905 |
+
"OMIM:602433",
|
| 906 |
+
"OMIM:300857",
|
| 907 |
+
"OMIM:608030",
|
| 908 |
+
"OMIM:606070",
|
| 909 |
+
"ORPHA:803",
|
| 910 |
+
"OMIM:612577",
|
| 911 |
+
"OMIM:613435",
|
| 912 |
+
"CCRD:4",
|
| 913 |
+
"OMIM:615515",
|
| 914 |
+
"OMIM:617839",
|
| 915 |
+
"OMIM:606640"
|
| 916 |
+
]
|
| 917 |
+
],
|
| 918 |
+
[
|
| 919 |
+
[
|
| 920 |
+
"HP:0000822",
|
| 921 |
+
"HP:0001259",
|
| 922 |
+
"HP:0001260",
|
| 923 |
+
"HP:0002019",
|
| 924 |
+
"HP:0002062",
|
| 925 |
+
"HP:0002064",
|
| 926 |
+
"HP:0002355",
|
| 927 |
+
"HP:0002360",
|
| 928 |
+
"HP:0002425",
|
| 929 |
+
"HP:0003484",
|
| 930 |
+
"HP:0003487",
|
| 931 |
+
"HP:0003546",
|
| 932 |
+
"HP:0003551",
|
| 933 |
+
"HP:0006801",
|
| 934 |
+
"HP:0007340",
|
| 935 |
+
"HP:0008969",
|
| 936 |
+
"HP:0009129",
|
| 937 |
+
"HP:0011448",
|
| 938 |
+
"HP:0030902",
|
| 939 |
+
"HP:0030906",
|
| 940 |
+
"HP:0031993"
|
| 941 |
+
],
|
| 942 |
+
[
|
| 943 |
+
"OMIM:105400",
|
| 944 |
+
"OMIM:617892",
|
| 945 |
+
"OMIM:602099",
|
| 946 |
+
"OMIM:205100",
|
| 947 |
+
"OMIM:611895",
|
| 948 |
+
"OMIM:614373",
|
| 949 |
+
"OMIM:613954",
|
| 950 |
+
"OMIM:614808",
|
| 951 |
+
"ORPHA:357043",
|
| 952 |
+
"OMIM:608627",
|
| 953 |
+
"OMIM:617921",
|
| 954 |
+
"ORPHA:300605",
|
| 955 |
+
"OMIM:183090",
|
| 956 |
+
"OMIM:612069",
|
| 957 |
+
"OMIM:614696",
|
| 958 |
+
"OMIM:616208",
|
| 959 |
+
"OMIM:615426",
|
| 960 |
+
"OMIM:602433",
|
| 961 |
+
"OMIM:300857",
|
| 962 |
+
"OMIM:608030",
|
| 963 |
+
"OMIM:606070",
|
| 964 |
+
"ORPHA:803",
|
| 965 |
+
"OMIM:612577",
|
| 966 |
+
"OMIM:613435",
|
| 967 |
+
"CCRD:4",
|
| 968 |
+
"OMIM:615515",
|
| 969 |
+
"OMIM:617839",
|
| 970 |
+
"OMIM:606640"
|
| 971 |
+
]
|
| 972 |
+
],
|
| 973 |
+
[
|
| 974 |
+
[
|
| 975 |
+
"HP:0001761",
|
| 976 |
+
"HP:0001883",
|
| 977 |
+
"HP:0001987",
|
| 978 |
+
"HP:0002160",
|
| 979 |
+
"HP:0003236",
|
| 980 |
+
"HP:0003445",
|
| 981 |
+
"HP:0004325",
|
| 982 |
+
"HP:0005108",
|
| 983 |
+
"HP:0006135",
|
| 984 |
+
"HP:0007083",
|
| 985 |
+
"HP:0007256",
|
| 986 |
+
"HP:0008959",
|
| 987 |
+
"HP:0008994",
|
| 988 |
+
"HP:0008997",
|
| 989 |
+
"HP:0009053",
|
| 990 |
+
"HP:0009072",
|
| 991 |
+
"HP:0009130",
|
| 992 |
+
"HP:0012391",
|
| 993 |
+
"HP:0100261",
|
| 994 |
+
"HP:0100502"
|
| 995 |
+
],
|
| 996 |
+
[
|
| 997 |
+
"OMIM:105400",
|
| 998 |
+
"OMIM:617892",
|
| 999 |
+
"OMIM:602099",
|
| 1000 |
+
"OMIM:205100",
|
| 1001 |
+
"OMIM:611895",
|
| 1002 |
+
"OMIM:614373",
|
| 1003 |
+
"OMIM:613954",
|
| 1004 |
+
"OMIM:614808",
|
| 1005 |
+
"ORPHA:357043",
|
| 1006 |
+
"OMIM:608627",
|
| 1007 |
+
"OMIM:617921",
|
| 1008 |
+
"ORPHA:300605",
|
| 1009 |
+
"OMIM:183090",
|
| 1010 |
+
"OMIM:612069",
|
| 1011 |
+
"OMIM:614696",
|
| 1012 |
+
"OMIM:616208",
|
| 1013 |
+
"OMIM:615426",
|
| 1014 |
+
"OMIM:602433",
|
| 1015 |
+
"OMIM:300857",
|
| 1016 |
+
"OMIM:608030",
|
| 1017 |
+
"OMIM:606070",
|
| 1018 |
+
"ORPHA:803",
|
| 1019 |
+
"OMIM:612577",
|
| 1020 |
+
"OMIM:613435",
|
| 1021 |
+
"CCRD:4",
|
| 1022 |
+
"OMIM:615515",
|
| 1023 |
+
"OMIM:617839",
|
| 1024 |
+
"OMIM:606640"
|
| 1025 |
+
]
|
| 1026 |
+
],
|
| 1027 |
+
[
|
| 1028 |
+
[
|
| 1029 |
+
"HP:0001367",
|
| 1030 |
+
"HP:0002355",
|
| 1031 |
+
"HP:0002492",
|
| 1032 |
+
"HP:0003445",
|
| 1033 |
+
"HP:0003484",
|
| 1034 |
+
"HP:0003808",
|
| 1035 |
+
"HP:0004188",
|
| 1036 |
+
"HP:0007010",
|
| 1037 |
+
"HP:0007181",
|
| 1038 |
+
"HP:0007340",
|
| 1039 |
+
"HP:0008991",
|
| 1040 |
+
"HP:0030237"
|
| 1041 |
+
],
|
| 1042 |
+
[
|
| 1043 |
+
"OMIM:105400",
|
| 1044 |
+
"OMIM:617892",
|
| 1045 |
+
"OMIM:602099",
|
| 1046 |
+
"OMIM:205100",
|
| 1047 |
+
"OMIM:611895",
|
| 1048 |
+
"OMIM:614373",
|
| 1049 |
+
"OMIM:613954",
|
| 1050 |
+
"OMIM:614808",
|
| 1051 |
+
"ORPHA:357043",
|
| 1052 |
+
"OMIM:608627",
|
| 1053 |
+
"OMIM:617921",
|
| 1054 |
+
"ORPHA:300605",
|
| 1055 |
+
"OMIM:183090",
|
| 1056 |
+
"OMIM:612069",
|
| 1057 |
+
"OMIM:614696",
|
| 1058 |
+
"OMIM:616208",
|
| 1059 |
+
"OMIM:615426",
|
| 1060 |
+
"OMIM:602433",
|
| 1061 |
+
"OMIM:300857",
|
| 1062 |
+
"OMIM:608030",
|
| 1063 |
+
"OMIM:606070",
|
| 1064 |
+
"ORPHA:803",
|
| 1065 |
+
"OMIM:612577",
|
| 1066 |
+
"OMIM:613435",
|
| 1067 |
+
"CCRD:4",
|
| 1068 |
+
"OMIM:615515",
|
| 1069 |
+
"OMIM:617839",
|
| 1070 |
+
"OMIM:606640"
|
| 1071 |
+
]
|
| 1072 |
+
],
|
| 1073 |
+
[
|
| 1074 |
+
[
|
| 1075 |
+
"HP:0001488",
|
| 1076 |
+
"HP:0003403",
|
| 1077 |
+
"HP:0003473",
|
| 1078 |
+
"HP:0003484",
|
| 1079 |
+
"HP:0003551",
|
| 1080 |
+
"HP:0003698",
|
| 1081 |
+
"HP:0030000",
|
| 1082 |
+
"HP:0030202",
|
| 1083 |
+
"HP:3000072"
|
| 1084 |
+
],
|
| 1085 |
+
[
|
| 1086 |
+
"OMIM:254200",
|
| 1087 |
+
"CCRD:32",
|
| 1088 |
+
"ORPHA:589"
|
| 1089 |
+
]
|
| 1090 |
+
],
|
| 1091 |
+
[
|
| 1092 |
+
[
|
| 1093 |
+
"HP:0000622",
|
| 1094 |
+
"HP:0000634",
|
| 1095 |
+
"HP:0000651",
|
| 1096 |
+
"HP:0000657",
|
| 1097 |
+
"HP:0001488",
|
| 1098 |
+
"HP:0002015",
|
| 1099 |
+
"HP:0002094",
|
| 1100 |
+
"HP:0003324",
|
| 1101 |
+
"HP:0003388",
|
| 1102 |
+
"HP:0003403",
|
| 1103 |
+
"HP:0003473",
|
| 1104 |
+
"HP:0003484",
|
| 1105 |
+
"HP:0004347",
|
| 1106 |
+
"HP:0005216",
|
| 1107 |
+
"HP:0007340",
|
| 1108 |
+
"HP:0007687",
|
| 1109 |
+
"HP:0030000"
|
| 1110 |
+
],
|
| 1111 |
+
[
|
| 1112 |
+
"OMIM:254200",
|
| 1113 |
+
"CCRD:32",
|
| 1114 |
+
"ORPHA:589"
|
| 1115 |
+
]
|
| 1116 |
+
],
|
| 1117 |
+
[
|
| 1118 |
+
[
|
| 1119 |
+
"HP:0000651",
|
| 1120 |
+
"HP:0001488",
|
| 1121 |
+
"HP:0002015",
|
| 1122 |
+
"HP:0002352",
|
| 1123 |
+
"HP:0002355",
|
| 1124 |
+
"HP:0002500",
|
| 1125 |
+
"HP:0002619",
|
| 1126 |
+
"HP:0002621",
|
| 1127 |
+
"HP:0003388",
|
| 1128 |
+
"HP:0003403",
|
| 1129 |
+
"HP:0003546",
|
| 1130 |
+
"HP:0005344",
|
| 1131 |
+
"HP:0007687",
|
| 1132 |
+
"HP:0030000",
|
| 1133 |
+
"HP:0030208"
|
| 1134 |
+
],
|
| 1135 |
+
[
|
| 1136 |
+
"OMIM:254200",
|
| 1137 |
+
"CCRD:32",
|
| 1138 |
+
"ORPHA:589"
|
| 1139 |
+
]
|
| 1140 |
+
],
|
| 1141 |
+
[
|
| 1142 |
+
[
|
| 1143 |
+
"HP:0000157",
|
| 1144 |
+
"HP:0000651",
|
| 1145 |
+
"HP:0000716",
|
| 1146 |
+
"HP:0000819",
|
| 1147 |
+
"HP:0000822",
|
| 1148 |
+
"HP:0001260",
|
| 1149 |
+
"HP:0001315",
|
| 1150 |
+
"HP:0001350",
|
| 1151 |
+
"HP:0001488",
|
| 1152 |
+
"HP:0002140",
|
| 1153 |
+
"HP:0002355",
|
| 1154 |
+
"HP:0002500",
|
| 1155 |
+
"HP:0003077",
|
| 1156 |
+
"HP:0003207",
|
| 1157 |
+
"HP:0003388",
|
| 1158 |
+
"HP:0003457",
|
| 1159 |
+
"HP:0003484",
|
| 1160 |
+
"HP:0005216",
|
| 1161 |
+
"HP:0007201",
|
| 1162 |
+
"HP:0007687",
|
| 1163 |
+
"HP:0030202",
|
| 1164 |
+
"HP:0030208",
|
| 1165 |
+
"HP:0430023"
|
| 1166 |
+
],
|
| 1167 |
+
[
|
| 1168 |
+
"OMIM:254200",
|
| 1169 |
+
"CCRD:32",
|
| 1170 |
+
"ORPHA:589"
|
| 1171 |
+
]
|
| 1172 |
+
],
|
| 1173 |
+
[
|
| 1174 |
+
[
|
| 1175 |
+
"HP:0000651",
|
| 1176 |
+
"HP:0000822",
|
| 1177 |
+
"HP:0000872",
|
| 1178 |
+
"HP:0001260",
|
| 1179 |
+
"HP:0001488",
|
| 1180 |
+
"HP:0001609",
|
| 1181 |
+
"HP:0001730",
|
| 1182 |
+
"HP:0002014",
|
| 1183 |
+
"HP:0002015",
|
| 1184 |
+
"HP:0002134",
|
| 1185 |
+
"HP:0002140",
|
| 1186 |
+
"HP:0002621",
|
| 1187 |
+
"HP:0003324",
|
| 1188 |
+
"HP:0003403",
|
| 1189 |
+
"HP:0003473",
|
| 1190 |
+
"HP:0003701",
|
| 1191 |
+
"HP:0004325",
|
| 1192 |
+
"HP:0007687",
|
| 1193 |
+
"HP:0010516",
|
| 1194 |
+
"HP:0012273",
|
| 1195 |
+
"HP:0012389",
|
| 1196 |
+
"HP:0030000",
|
| 1197 |
+
"HP:0030202",
|
| 1198 |
+
"HP:0100522"
|
| 1199 |
+
],
|
| 1200 |
+
[
|
| 1201 |
+
"OMIM:254200",
|
| 1202 |
+
"CCRD:32",
|
| 1203 |
+
"ORPHA:589"
|
| 1204 |
+
]
|
| 1205 |
+
],
|
| 1206 |
+
[
|
| 1207 |
+
[
|
| 1208 |
+
"HP:0000012",
|
| 1209 |
+
"HP:0000016",
|
| 1210 |
+
"HP:0000019",
|
| 1211 |
+
"HP:0000020",
|
| 1212 |
+
"HP:0000875",
|
| 1213 |
+
"HP:0001397",
|
| 1214 |
+
"HP:0002019",
|
| 1215 |
+
"HP:0002067",
|
| 1216 |
+
"HP:0002134",
|
| 1217 |
+
"HP:0002304",
|
| 1218 |
+
"HP:0002312",
|
| 1219 |
+
"HP:0002345",
|
| 1220 |
+
"HP:0002360",
|
| 1221 |
+
"HP:0002362",
|
| 1222 |
+
"HP:0002527",
|
| 1223 |
+
"HP:0003457",
|
| 1224 |
+
"HP:0004325",
|
| 1225 |
+
"HP:0005162",
|
| 1226 |
+
"HP:0007010",
|
| 1227 |
+
"HP:0007064",
|
| 1228 |
+
"HP:0009027",
|
| 1229 |
+
"HP:0010532",
|
| 1230 |
+
"HP:0012397",
|
| 1231 |
+
"HP:0012531",
|
| 1232 |
+
"HP:0012614",
|
| 1233 |
+
"HP:0012651",
|
| 1234 |
+
"HP:0030047",
|
| 1235 |
+
"HP:0030237",
|
| 1236 |
+
"HP:0100507",
|
| 1237 |
+
"HP:0100515",
|
| 1238 |
+
"HP:0100518"
|
| 1239 |
+
],
|
| 1240 |
+
[
|
| 1241 |
+
"ORPHA:102",
|
| 1242 |
+
"ORPHA:98933",
|
| 1243 |
+
"CCRD:77",
|
| 1244 |
+
"ORPHA:227510",
|
| 1245 |
+
"OMIM:146500"
|
| 1246 |
+
]
|
| 1247 |
+
],
|
| 1248 |
+
[
|
| 1249 |
+
[
|
| 1250 |
+
"HP:0000012",
|
| 1251 |
+
"HP:0000019",
|
| 1252 |
+
"HP:0000020",
|
| 1253 |
+
"HP:0000217",
|
| 1254 |
+
"HP:0000572",
|
| 1255 |
+
"HP:0000822",
|
| 1256 |
+
"HP:0001028",
|
| 1257 |
+
"HP:0001098",
|
| 1258 |
+
"HP:0001260",
|
| 1259 |
+
"HP:0001279",
|
| 1260 |
+
"HP:0001350",
|
| 1261 |
+
"HP:0001655",
|
| 1262 |
+
"HP:0002075",
|
| 1263 |
+
"HP:0002312",
|
| 1264 |
+
"HP:0002353",
|
| 1265 |
+
"HP:0002354",
|
| 1266 |
+
"HP:0002403",
|
| 1267 |
+
"HP:0002442",
|
| 1268 |
+
"HP:0002500",
|
| 1269 |
+
"HP:0002515",
|
| 1270 |
+
"HP:0002540",
|
| 1271 |
+
"HP:0002607",
|
| 1272 |
+
"HP:0002634",
|
| 1273 |
+
"HP:0002637",
|
| 1274 |
+
"HP:0003445",
|
| 1275 |
+
"HP:0003487",
|
| 1276 |
+
"HP:0004324",
|
| 1277 |
+
"HP:0004396",
|
| 1278 |
+
"HP:0004673",
|
| 1279 |
+
"HP:0004942",
|
| 1280 |
+
"HP:0006801",
|
| 1281 |
+
"HP:0006879",
|
| 1282 |
+
"HP:0007010",
|
| 1283 |
+
"HP:0007361",
|
| 1284 |
+
"HP:0008696",
|
| 1285 |
+
"HP:0010438",
|
| 1286 |
+
"HP:0010526",
|
| 1287 |
+
"HP:0010875",
|
| 1288 |
+
"HP:0011441",
|
| 1289 |
+
"HP:0011448",
|
| 1290 |
+
"HP:0012651",
|
| 1291 |
+
"HP:0030902",
|
| 1292 |
+
"HP:0100515",
|
| 1293 |
+
"HP:0100518",
|
| 1294 |
+
"HP:0100639"
|
| 1295 |
+
],
|
| 1296 |
+
[
|
| 1297 |
+
"ORPHA:102",
|
| 1298 |
+
"ORPHA:98933",
|
| 1299 |
+
"CCRD:77",
|
| 1300 |
+
"ORPHA:227510",
|
| 1301 |
+
"OMIM:146500"
|
| 1302 |
+
]
|
| 1303 |
+
],
|
| 1304 |
+
[
|
| 1305 |
+
[
|
| 1306 |
+
"HP:0000020",
|
| 1307 |
+
"HP:0000738",
|
| 1308 |
+
"HP:0000752",
|
| 1309 |
+
"HP:0001279",
|
| 1310 |
+
"HP:0001397",
|
| 1311 |
+
"HP:0002067",
|
| 1312 |
+
"HP:0002075",
|
| 1313 |
+
"HP:0002136",
|
| 1314 |
+
"HP:0002198",
|
| 1315 |
+
"HP:0002359",
|
| 1316 |
+
"HP:0002360",
|
| 1317 |
+
"HP:0002487",
|
| 1318 |
+
"HP:0002527",
|
| 1319 |
+
"HP:0002540",
|
| 1320 |
+
"HP:0002621",
|
| 1321 |
+
"HP:0003416",
|
| 1322 |
+
"HP:0003418",
|
| 1323 |
+
"HP:0003487",
|
| 1324 |
+
"HP:0003551",
|
| 1325 |
+
"HP:0003698",
|
| 1326 |
+
"HP:0005108",
|
| 1327 |
+
"HP:0005344",
|
| 1328 |
+
"HP:0006879",
|
| 1329 |
+
"HP:0006895",
|
| 1330 |
+
"HP:0007010",
|
| 1331 |
+
"HP:0007311",
|
| 1332 |
+
"HP:0007340",
|
| 1333 |
+
"HP:0008480",
|
| 1334 |
+
"HP:0012031",
|
| 1335 |
+
"HP:0012651",
|
| 1336 |
+
"HP:0012735"
|
| 1337 |
+
],
|
| 1338 |
+
[
|
| 1339 |
+
"ORPHA:102",
|
| 1340 |
+
"ORPHA:98933",
|
| 1341 |
+
"CCRD:77",
|
| 1342 |
+
"ORPHA:227510",
|
| 1343 |
+
"OMIM:146500"
|
| 1344 |
+
]
|
| 1345 |
+
],
|
| 1346 |
+
[
|
| 1347 |
+
[
|
| 1348 |
+
"HP:0000012",
|
| 1349 |
+
"HP:0000019",
|
| 1350 |
+
"HP:0000020",
|
| 1351 |
+
"HP:0001279",
|
| 1352 |
+
"HP:0001297",
|
| 1353 |
+
"HP:0001350",
|
| 1354 |
+
"HP:0002019",
|
| 1355 |
+
"HP:0002059",
|
| 1356 |
+
"HP:0002075",
|
| 1357 |
+
"HP:0002143",
|
| 1358 |
+
"HP:0002403",
|
| 1359 |
+
"HP:0002500",
|
| 1360 |
+
"HP:0002516",
|
| 1361 |
+
"HP:0002637",
|
| 1362 |
+
"HP:0002922",
|
| 1363 |
+
"HP:0003445",
|
| 1364 |
+
"HP:0003487",
|
| 1365 |
+
"HP:0003551",
|
| 1366 |
+
"HP:0007185",
|
| 1367 |
+
"HP:0007340",
|
| 1368 |
+
"HP:0008775",
|
| 1369 |
+
"HP:0010535",
|
| 1370 |
+
"HP:0012229",
|
| 1371 |
+
"HP:0012534",
|
| 1372 |
+
"HP:0012651",
|
| 1373 |
+
"HP:0012874",
|
| 1374 |
+
"HP:0100008",
|
| 1375 |
+
"HP:0100515",
|
| 1376 |
+
"HP:0100518",
|
| 1377 |
+
"HP:0100526",
|
| 1378 |
+
"HP:0100639",
|
| 1379 |
+
"HP:0100712"
|
| 1380 |
+
],
|
| 1381 |
+
[
|
| 1382 |
+
"ORPHA:102",
|
| 1383 |
+
"ORPHA:98933",
|
| 1384 |
+
"CCRD:77",
|
| 1385 |
+
"ORPHA:227510",
|
| 1386 |
+
"OMIM:146500"
|
| 1387 |
+
]
|
| 1388 |
+
],
|
| 1389 |
+
[
|
| 1390 |
+
[
|
| 1391 |
+
"HP:0000017",
|
| 1392 |
+
"HP:0000019",
|
| 1393 |
+
"HP:0000020",
|
| 1394 |
+
"HP:0000026",
|
| 1395 |
+
"HP:0000819",
|
| 1396 |
+
"HP:0001350",
|
| 1397 |
+
"HP:0002067",
|
| 1398 |
+
"HP:0002136",
|
| 1399 |
+
"HP:0002317",
|
| 1400 |
+
"HP:0002354",
|
| 1401 |
+
"HP:0002403",
|
| 1402 |
+
"HP:0002442",
|
| 1403 |
+
"HP:0002527",
|
| 1404 |
+
"HP:0002600",
|
| 1405 |
+
"HP:0002607",
|
| 1406 |
+
"HP:0003401",
|
| 1407 |
+
"HP:0003487",
|
| 1408 |
+
"HP:0004325",
|
| 1409 |
+
"HP:0005108",
|
| 1410 |
+
"HP:0006938",
|
| 1411 |
+
"HP:0007328",
|
| 1412 |
+
"HP:0008711",
|
| 1413 |
+
"HP:0010614",
|
| 1414 |
+
"HP:0010875",
|
| 1415 |
+
"HP:0012651",
|
| 1416 |
+
"HP:0031993",
|
| 1417 |
+
"HP:0100515",
|
| 1418 |
+
"HP:0100518",
|
| 1419 |
+
"HP:0100712"
|
| 1420 |
+
],
|
| 1421 |
+
[
|
| 1422 |
+
"ORPHA:102",
|
| 1423 |
+
"ORPHA:98933",
|
| 1424 |
+
"CCRD:77",
|
| 1425 |
+
"ORPHA:227510",
|
| 1426 |
+
"OMIM:146500"
|
| 1427 |
+
]
|
| 1428 |
+
],
|
| 1429 |
+
[
|
| 1430 |
+
[
|
| 1431 |
+
"HP:0000017",
|
| 1432 |
+
"HP:0000093",
|
| 1433 |
+
"HP:0000790",
|
| 1434 |
+
"HP:0000822",
|
| 1435 |
+
"HP:0001061",
|
| 1436 |
+
"HP:0002153",
|
| 1437 |
+
"HP:0003073",
|
| 1438 |
+
"HP:0003124",
|
| 1439 |
+
"HP:0003149",
|
| 1440 |
+
"HP:0003259",
|
| 1441 |
+
"HP:0005994",
|
| 1442 |
+
"HP:0012086"
|
| 1443 |
+
],
|
| 1444 |
+
[
|
| 1445 |
+
"OMIM:301050",
|
| 1446 |
+
"OMIM:203780",
|
| 1447 |
+
"OMIM:104200",
|
| 1448 |
+
"ORPHA:63",
|
| 1449 |
+
"CCRD:3"
|
| 1450 |
+
]
|
| 1451 |
+
],
|
| 1452 |
+
[
|
| 1453 |
+
[
|
| 1454 |
+
"HP:0000093",
|
| 1455 |
+
"HP:0000822",
|
| 1456 |
+
"HP:0001945",
|
| 1457 |
+
"HP:0003124",
|
| 1458 |
+
"HP:0003259",
|
| 1459 |
+
"HP:0008625",
|
| 1460 |
+
"HP:0012086",
|
| 1461 |
+
"HP:0012587",
|
| 1462 |
+
"HP:0012615"
|
| 1463 |
+
],
|
| 1464 |
+
[
|
| 1465 |
+
"OMIM:301050",
|
| 1466 |
+
"OMIM:203780",
|
| 1467 |
+
"OMIM:104200",
|
| 1468 |
+
"ORPHA:63",
|
| 1469 |
+
"CCRD:3"
|
| 1470 |
+
]
|
| 1471 |
+
],
|
| 1472 |
+
[
|
| 1473 |
+
[
|
| 1474 |
+
"HP:0000123",
|
| 1475 |
+
"HP:0000246",
|
| 1476 |
+
"HP:0001757",
|
| 1477 |
+
"HP:0002907",
|
| 1478 |
+
"HP:0012086",
|
| 1479 |
+
"HP:0012587"
|
| 1480 |
+
],
|
| 1481 |
+
[
|
| 1482 |
+
"OMIM:301050",
|
| 1483 |
+
"OMIM:203780",
|
| 1484 |
+
"OMIM:104200",
|
| 1485 |
+
"ORPHA:63",
|
| 1486 |
+
"CCRD:3"
|
| 1487 |
+
]
|
| 1488 |
+
],
|
| 1489 |
+
[
|
| 1490 |
+
[
|
| 1491 |
+
"HP:0000017",
|
| 1492 |
+
"HP:0000093",
|
| 1493 |
+
"HP:0000099",
|
| 1494 |
+
"HP:0000790",
|
| 1495 |
+
"HP:0003496",
|
| 1496 |
+
"HP:0003565",
|
| 1497 |
+
"HP:0005994",
|
| 1498 |
+
"HP:0012622",
|
| 1499 |
+
"HP:0100515"
|
| 1500 |
+
],
|
| 1501 |
+
[
|
| 1502 |
+
"OMIM:301050",
|
| 1503 |
+
"OMIM:203780",
|
| 1504 |
+
"OMIM:104200",
|
| 1505 |
+
"ORPHA:63",
|
| 1506 |
+
"CCRD:3"
|
| 1507 |
+
]
|
| 1508 |
+
],
|
| 1509 |
+
[
|
| 1510 |
+
[
|
| 1511 |
+
"HP:0000093",
|
| 1512 |
+
"HP:0000099",
|
| 1513 |
+
"HP:0000365",
|
| 1514 |
+
"HP:0000572",
|
| 1515 |
+
"HP:0001945",
|
| 1516 |
+
"HP:0003124",
|
| 1517 |
+
"HP:0003259",
|
| 1518 |
+
"HP:0003565",
|
| 1519 |
+
"HP:0011110",
|
| 1520 |
+
"HP:0012086",
|
| 1521 |
+
"HP:0012587"
|
| 1522 |
+
],
|
| 1523 |
+
[
|
| 1524 |
+
"OMIM:301050",
|
| 1525 |
+
"OMIM:203780",
|
| 1526 |
+
"OMIM:104200",
|
| 1527 |
+
"ORPHA:63",
|
| 1528 |
+
"CCRD:3"
|
| 1529 |
+
]
|
| 1530 |
+
],
|
| 1531 |
+
[
|
| 1532 |
+
[
|
| 1533 |
+
"HP:0000092",
|
| 1534 |
+
"HP:0000093",
|
| 1535 |
+
"HP:0000097",
|
| 1536 |
+
"HP:0000099",
|
| 1537 |
+
"HP:0000600",
|
| 1538 |
+
"HP:0001945",
|
| 1539 |
+
"HP:0002209",
|
| 1540 |
+
"HP:0003073",
|
| 1541 |
+
"HP:0003124",
|
| 1542 |
+
"HP:0003259",
|
| 1543 |
+
"HP:0003651",
|
| 1544 |
+
"HP:0004324",
|
| 1545 |
+
"HP:0005576"
|
| 1546 |
+
],
|
| 1547 |
+
[
|
| 1548 |
+
"OMIM:301050",
|
| 1549 |
+
"OMIM:203780",
|
| 1550 |
+
"OMIM:104200",
|
| 1551 |
+
"ORPHA:63",
|
| 1552 |
+
"CCRD:3"
|
| 1553 |
+
]
|
| 1554 |
+
],
|
| 1555 |
+
[
|
| 1556 |
+
[
|
| 1557 |
+
"HP:0000093",
|
| 1558 |
+
"HP:0000099",
|
| 1559 |
+
"HP:0000107",
|
| 1560 |
+
"HP:0000365",
|
| 1561 |
+
"HP:0000790",
|
| 1562 |
+
"HP:0001894",
|
| 1563 |
+
"HP:0001974",
|
| 1564 |
+
"HP:0003073",
|
| 1565 |
+
"HP:0003124",
|
| 1566 |
+
"HP:0004396",
|
| 1567 |
+
"HP:0008775",
|
| 1568 |
+
"HP:0012622"
|
| 1569 |
+
],
|
| 1570 |
+
[
|
| 1571 |
+
"OMIM:301050",
|
| 1572 |
+
"OMIM:203780",
|
| 1573 |
+
"OMIM:104200",
|
| 1574 |
+
"ORPHA:63",
|
| 1575 |
+
"CCRD:3"
|
| 1576 |
+
]
|
| 1577 |
+
],
|
| 1578 |
+
[
|
| 1579 |
+
[
|
| 1580 |
+
"HP:0000093",
|
| 1581 |
+
"HP:0000217",
|
| 1582 |
+
"HP:0001520",
|
| 1583 |
+
"HP:0001945",
|
| 1584 |
+
"HP:0003124",
|
| 1585 |
+
"HP:0004325",
|
| 1586 |
+
"HP:0012587"
|
| 1587 |
+
],
|
| 1588 |
+
[
|
| 1589 |
+
"OMIM:301050",
|
| 1590 |
+
"OMIM:203780",
|
| 1591 |
+
"OMIM:104200",
|
| 1592 |
+
"ORPHA:63",
|
| 1593 |
+
"CCRD:3"
|
| 1594 |
+
]
|
| 1595 |
+
],
|
| 1596 |
+
[
|
| 1597 |
+
[
|
| 1598 |
+
"HP:0000093",
|
| 1599 |
+
"HP:0000217",
|
| 1600 |
+
"HP:0000790",
|
| 1601 |
+
"HP:0000822",
|
| 1602 |
+
"HP:0001622",
|
| 1603 |
+
"HP:0001894",
|
| 1604 |
+
"HP:0001974",
|
| 1605 |
+
"HP:0002028",
|
| 1606 |
+
"HP:0002329",
|
| 1607 |
+
"HP:0002829",
|
| 1608 |
+
"HP:0003138",
|
| 1609 |
+
"HP:0003259",
|
| 1610 |
+
"HP:0004325"
|
| 1611 |
+
],
|
| 1612 |
+
[
|
| 1613 |
+
"ORPHA:324",
|
| 1614 |
+
"CCRD:27",
|
| 1615 |
+
"OMIM:301500"
|
| 1616 |
+
]
|
| 1617 |
+
],
|
| 1618 |
+
[
|
| 1619 |
+
[
|
| 1620 |
+
"HP:0000069",
|
| 1621 |
+
"HP:0000093",
|
| 1622 |
+
"HP:0000372",
|
| 1623 |
+
"HP:0003124",
|
| 1624 |
+
"HP:0004277",
|
| 1625 |
+
"HP:0005918",
|
| 1626 |
+
"HP:0009900",
|
| 1627 |
+
"HP:0040090",
|
| 1628 |
+
"HP:0100582"
|
| 1629 |
+
],
|
| 1630 |
+
[
|
| 1631 |
+
"ORPHA:324",
|
| 1632 |
+
"CCRD:27",
|
| 1633 |
+
"OMIM:301500"
|
| 1634 |
+
]
|
| 1635 |
+
],
|
| 1636 |
+
[
|
| 1637 |
+
[
|
| 1638 |
+
"HP:0000017",
|
| 1639 |
+
"HP:0000093",
|
| 1640 |
+
"HP:0000099",
|
| 1641 |
+
"HP:0000107",
|
| 1642 |
+
"HP:0000126",
|
| 1643 |
+
"HP:0000622",
|
| 1644 |
+
"HP:0000790",
|
| 1645 |
+
"HP:0000794",
|
| 1646 |
+
"HP:0000822",
|
| 1647 |
+
"HP:0001279",
|
| 1648 |
+
"HP:0001639",
|
| 1649 |
+
"HP:0001824",
|
| 1650 |
+
"HP:0001962",
|
| 1651 |
+
"HP:0002155",
|
| 1652 |
+
"HP:0003124",
|
| 1653 |
+
"HP:0003259",
|
| 1654 |
+
"HP:0005115",
|
| 1655 |
+
"HP:0005144",
|
| 1656 |
+
"HP:0005264",
|
| 1657 |
+
"HP:0006682",
|
| 1658 |
+
"HP:0010741",
|
| 1659 |
+
"HP:0011712",
|
| 1660 |
+
"HP:0012249",
|
| 1661 |
+
"HP:0012622",
|
| 1662 |
+
"HP:0025168",
|
| 1663 |
+
"HP:0100749"
|
| 1664 |
+
],
|
| 1665 |
+
[
|
| 1666 |
+
"ORPHA:324",
|
| 1667 |
+
"CCRD:27",
|
| 1668 |
+
"OMIM:301500"
|
| 1669 |
+
]
|
| 1670 |
+
],
|
| 1671 |
+
[
|
| 1672 |
+
[
|
| 1673 |
+
"HP:0000128",
|
| 1674 |
+
"HP:0000988",
|
| 1675 |
+
"HP:0001657",
|
| 1676 |
+
"HP:0002094",
|
| 1677 |
+
"HP:0002900",
|
| 1678 |
+
"HP:0002914",
|
| 1679 |
+
"HP:0002917",
|
| 1680 |
+
"HP:0003081",
|
| 1681 |
+
"HP:0003324",
|
| 1682 |
+
"HP:0003401",
|
| 1683 |
+
"HP:0005567",
|
| 1684 |
+
"HP:0012604",
|
| 1685 |
+
"HP:0012605",
|
| 1686 |
+
"HP:0012608",
|
| 1687 |
+
"HP:0200114"
|
| 1688 |
+
],
|
| 1689 |
+
[
|
| 1690 |
+
"CCRD:33",
|
| 1691 |
+
"ORPHA:358",
|
| 1692 |
+
"OMIM:263800"
|
| 1693 |
+
]
|
| 1694 |
+
],
|
| 1695 |
+
[
|
| 1696 |
+
[
|
| 1697 |
+
"HP:0000017",
|
| 1698 |
+
"HP:0000128",
|
| 1699 |
+
"HP:0000975",
|
| 1700 |
+
"HP:0001025",
|
| 1701 |
+
"HP:0001397",
|
| 1702 |
+
"HP:0001962",
|
| 1703 |
+
"HP:0002149",
|
| 1704 |
+
"HP:0002900",
|
| 1705 |
+
"HP:0002914",
|
| 1706 |
+
"HP:0003081",
|
| 1707 |
+
"HP:0007340",
|
| 1708 |
+
"HP:0011703",
|
| 1709 |
+
"HP:0012605",
|
| 1710 |
+
"HP:0031964"
|
| 1711 |
+
],
|
| 1712 |
+
[
|
| 1713 |
+
"CCRD:33",
|
| 1714 |
+
"ORPHA:358",
|
| 1715 |
+
"OMIM:263800"
|
| 1716 |
+
]
|
| 1717 |
+
],
|
| 1718 |
+
[
|
| 1719 |
+
[
|
| 1720 |
+
"HP:0000155",
|
| 1721 |
+
"HP:0000848",
|
| 1722 |
+
"HP:0001279",
|
| 1723 |
+
"HP:0001962",
|
| 1724 |
+
"HP:0002014",
|
| 1725 |
+
"HP:0002094",
|
| 1726 |
+
"HP:0002900",
|
| 1727 |
+
"HP:0002917",
|
| 1728 |
+
"HP:0003324",
|
| 1729 |
+
"HP:0007340",
|
| 1730 |
+
"HP:0010532",
|
| 1731 |
+
"HP:0010872",
|
| 1732 |
+
"HP:0011280",
|
| 1733 |
+
"HP:0011954",
|
| 1734 |
+
"HP:0012534",
|
| 1735 |
+
"HP:0100576"
|
| 1736 |
+
],
|
| 1737 |
+
[
|
| 1738 |
+
"CCRD:33",
|
| 1739 |
+
"ORPHA:358",
|
| 1740 |
+
"OMIM:263800"
|
| 1741 |
+
]
|
| 1742 |
+
],
|
| 1743 |
+
[
|
| 1744 |
+
[
|
| 1745 |
+
"HP:0000128",
|
| 1746 |
+
"HP:0002900",
|
| 1747 |
+
"HP:0003081",
|
| 1748 |
+
"HP:0003127",
|
| 1749 |
+
"HP:0200114"
|
| 1750 |
+
],
|
| 1751 |
+
[
|
| 1752 |
+
"CCRD:33",
|
| 1753 |
+
"ORPHA:358",
|
| 1754 |
+
"OMIM:263800"
|
| 1755 |
+
]
|
| 1756 |
+
],
|
| 1757 |
+
[
|
| 1758 |
+
[
|
| 1759 |
+
"HP:0000093",
|
| 1760 |
+
"HP:0001025",
|
| 1761 |
+
"HP:0001873",
|
| 1762 |
+
"HP:0001875",
|
| 1763 |
+
"HP:0001876",
|
| 1764 |
+
"HP:0001882",
|
| 1765 |
+
"HP:0001889",
|
| 1766 |
+
"HP:0001923",
|
| 1767 |
+
"HP:0002014",
|
| 1768 |
+
"HP:0002321",
|
| 1769 |
+
"HP:0003074",
|
| 1770 |
+
"HP:0003324",
|
| 1771 |
+
"HP:0003573",
|
| 1772 |
+
"HP:0004325",
|
| 1773 |
+
"HP:0008282",
|
| 1774 |
+
"HP:0011273",
|
| 1775 |
+
"HP:0012086",
|
| 1776 |
+
"HP:0012135",
|
| 1777 |
+
"HP:0012587",
|
| 1778 |
+
"HP:0031956",
|
| 1779 |
+
"HP:0100724"
|
| 1780 |
+
],
|
| 1781 |
+
[
|
| 1782 |
+
"OMIM:300818",
|
| 1783 |
+
"CCRD:88",
|
| 1784 |
+
"OMIM:615399",
|
| 1785 |
+
"ORPHA:447"
|
| 1786 |
+
]
|
| 1787 |
+
],
|
| 1788 |
+
[
|
| 1789 |
+
[
|
| 1790 |
+
"HP:0000017",
|
| 1791 |
+
"HP:0000093",
|
| 1792 |
+
"HP:0000790",
|
| 1793 |
+
"HP:0000822",
|
| 1794 |
+
"HP:0000952",
|
| 1795 |
+
"HP:0001081",
|
| 1796 |
+
"HP:0001289",
|
| 1797 |
+
"HP:0001596",
|
| 1798 |
+
"HP:0001649",
|
| 1799 |
+
"HP:0001903",
|
| 1800 |
+
"HP:0001915",
|
| 1801 |
+
"HP:0001923",
|
| 1802 |
+
"HP:0001945",
|
| 1803 |
+
"HP:0001962",
|
| 1804 |
+
"HP:0002013",
|
| 1805 |
+
"HP:0002014",
|
| 1806 |
+
"HP:0002018",
|
| 1807 |
+
"HP:0002094",
|
| 1808 |
+
"HP:0002202",
|
| 1809 |
+
"HP:0002209",
|
| 1810 |
+
"HP:0002900",
|
| 1811 |
+
"HP:0003074",
|
| 1812 |
+
"HP:0003259",
|
| 1813 |
+
"HP:0003270",
|
| 1814 |
+
"HP:0003565",
|
| 1815 |
+
"HP:0003573",
|
| 1816 |
+
"HP:0004324",
|
| 1817 |
+
"HP:0008282",
|
| 1818 |
+
"HP:0008775",
|
| 1819 |
+
"HP:0012086",
|
| 1820 |
+
"HP:0031245",
|
| 1821 |
+
"HP:0100519"
|
| 1822 |
+
],
|
| 1823 |
+
[
|
| 1824 |
+
"OMIM:300818",
|
| 1825 |
+
"CCRD:88",
|
| 1826 |
+
"OMIM:615399",
|
| 1827 |
+
"ORPHA:447"
|
| 1828 |
+
]
|
| 1829 |
+
],
|
| 1830 |
+
[
|
| 1831 |
+
[
|
| 1832 |
+
"HP:0000716",
|
| 1833 |
+
"HP:0001407",
|
| 1834 |
+
"HP:0001433",
|
| 1835 |
+
"HP:0001541",
|
| 1836 |
+
"HP:0001744",
|
| 1837 |
+
"HP:0001824",
|
| 1838 |
+
"HP:0001875",
|
| 1839 |
+
"HP:0001882",
|
| 1840 |
+
"HP:0001903",
|
| 1841 |
+
"HP:0001923",
|
| 1842 |
+
"HP:0002240",
|
| 1843 |
+
"HP:0003270",
|
| 1844 |
+
"HP:0003324",
|
| 1845 |
+
"HP:0004298",
|
| 1846 |
+
"HP:0004396",
|
| 1847 |
+
"HP:0004447",
|
| 1848 |
+
"HP:0005201",
|
| 1849 |
+
"HP:0005264",
|
| 1850 |
+
"HP:0005513",
|
| 1851 |
+
"HP:0008442",
|
| 1852 |
+
"HP:0010741",
|
| 1853 |
+
"HP:0011273",
|
| 1854 |
+
"HP:0011974",
|
| 1855 |
+
"HP:0012086",
|
| 1856 |
+
"HP:0031554",
|
| 1857 |
+
"HP:0031555",
|
| 1858 |
+
"HP:0041048",
|
| 1859 |
+
"HP:0100016"
|
| 1860 |
+
],
|
| 1861 |
+
[
|
| 1862 |
+
"OMIM:300818",
|
| 1863 |
+
"CCRD:88",
|
| 1864 |
+
"OMIM:615399",
|
| 1865 |
+
"ORPHA:447"
|
| 1866 |
+
]
|
| 1867 |
+
],
|
| 1868 |
+
[
|
| 1869 |
+
[
|
| 1870 |
+
"HP:0000155",
|
| 1871 |
+
"HP:0000988",
|
| 1872 |
+
"HP:0001873",
|
| 1873 |
+
"HP:0001875",
|
| 1874 |
+
"HP:0001876",
|
| 1875 |
+
"HP:0001882",
|
| 1876 |
+
"HP:0001903",
|
| 1877 |
+
"HP:0001923",
|
| 1878 |
+
"HP:0001945",
|
| 1879 |
+
"HP:0002573",
|
| 1880 |
+
"HP:0002788",
|
| 1881 |
+
"HP:0002863",
|
| 1882 |
+
"HP:0011273",
|
| 1883 |
+
"HP:0012130",
|
| 1884 |
+
"HP:0012143"
|
| 1885 |
+
],
|
| 1886 |
+
[
|
| 1887 |
+
"OMIM:300818",
|
| 1888 |
+
"CCRD:88",
|
| 1889 |
+
"OMIM:615399",
|
| 1890 |
+
"ORPHA:447"
|
| 1891 |
+
]
|
| 1892 |
+
],
|
| 1893 |
+
[
|
| 1894 |
+
[
|
| 1895 |
+
"HP:0000979",
|
| 1896 |
+
"HP:0000988",
|
| 1897 |
+
"HP:0001324",
|
| 1898 |
+
"HP:0001541",
|
| 1899 |
+
"HP:0001873",
|
| 1900 |
+
"HP:0001903",
|
| 1901 |
+
"HP:0001945",
|
| 1902 |
+
"HP:0001974",
|
| 1903 |
+
"HP:0002240",
|
| 1904 |
+
"HP:0002321",
|
| 1905 |
+
"HP:0003419",
|
| 1906 |
+
"HP:0003573",
|
| 1907 |
+
"HP:0004831",
|
| 1908 |
+
"HP:0011947",
|
| 1909 |
+
"HP:0012086",
|
| 1910 |
+
"HP:0012130",
|
| 1911 |
+
"HP:0012135",
|
| 1912 |
+
"HP:0012156",
|
| 1913 |
+
"HP:0012514",
|
| 1914 |
+
"HP:0030169",
|
| 1915 |
+
"HP:0030242",
|
| 1916 |
+
"HP:0031245",
|
| 1917 |
+
"HP:0100724"
|
| 1918 |
+
],
|
| 1919 |
+
[
|
| 1920 |
+
"OMIM:300818",
|
| 1921 |
+
"CCRD:88",
|
| 1922 |
+
"OMIM:615399",
|
| 1923 |
+
"ORPHA:447"
|
| 1924 |
+
]
|
| 1925 |
+
],
|
| 1926 |
+
[
|
| 1927 |
+
[
|
| 1928 |
+
"HP:0000093",
|
| 1929 |
+
"HP:0000138",
|
| 1930 |
+
"HP:0000790",
|
| 1931 |
+
"HP:0000821",
|
| 1932 |
+
"HP:0000822",
|
| 1933 |
+
"HP:0001000",
|
| 1934 |
+
"HP:0001433",
|
| 1935 |
+
"HP:0001541",
|
| 1936 |
+
"HP:0001635",
|
| 1937 |
+
"HP:0001640",
|
| 1938 |
+
"HP:0001655",
|
| 1939 |
+
"HP:0001698",
|
| 1940 |
+
"HP:0001702",
|
| 1941 |
+
"HP:0001744",
|
| 1942 |
+
"HP:0001894",
|
| 1943 |
+
"HP:0001903",
|
| 1944 |
+
"HP:0001945",
|
| 1945 |
+
"HP:0002090",
|
| 1946 |
+
"HP:0002092",
|
| 1947 |
+
"HP:0002148",
|
| 1948 |
+
"HP:0002202",
|
| 1949 |
+
"HP:0002573",
|
| 1950 |
+
"HP:0002716",
|
| 1951 |
+
"HP:0002901",
|
| 1952 |
+
"HP:0002925",
|
| 1953 |
+
"HP:0003073",
|
| 1954 |
+
"HP:0003270",
|
| 1955 |
+
"HP:0003565",
|
| 1956 |
+
"HP:0004325",
|
| 1957 |
+
"HP:0005108",
|
| 1958 |
+
"HP:0005225",
|
| 1959 |
+
"HP:0005345",
|
| 1960 |
+
"HP:0010741",
|
| 1961 |
+
"HP:0011227",
|
| 1962 |
+
"HP:0012050",
|
| 1963 |
+
"HP:0012226",
|
| 1964 |
+
"HP:0012531",
|
| 1965 |
+
"HP:0012534",
|
| 1966 |
+
"HP:0030160",
|
| 1967 |
+
"HP:0030718",
|
| 1968 |
+
"HP:0031295",
|
| 1969 |
+
"HP:0031508",
|
| 1970 |
+
"HP:0100879"
|
| 1971 |
+
],
|
| 1972 |
+
[
|
| 1973 |
+
"ORPHA:2905",
|
| 1974 |
+
"CCRD:91"
|
| 1975 |
+
]
|
| 1976 |
+
],
|
| 1977 |
+
[
|
| 1978 |
+
[
|
| 1979 |
+
"HP:0000282",
|
| 1980 |
+
"HP:0000735",
|
| 1981 |
+
"HP:0000741",
|
| 1982 |
+
"HP:0000821",
|
| 1983 |
+
"HP:0000870",
|
| 1984 |
+
"HP:0000953",
|
| 1985 |
+
"HP:0001085",
|
| 1986 |
+
"HP:0001394",
|
| 1987 |
+
"HP:0001433",
|
| 1988 |
+
"HP:0001541",
|
| 1989 |
+
"HP:0001698",
|
| 1990 |
+
"HP:0001744",
|
| 1991 |
+
"HP:0001903",
|
| 1992 |
+
"HP:0001945",
|
| 1993 |
+
"HP:0002094",
|
| 1994 |
+
"HP:0002202",
|
| 1995 |
+
"HP:0002716",
|
| 1996 |
+
"HP:0003075",
|
| 1997 |
+
"HP:0003270",
|
| 1998 |
+
"HP:0003457",
|
| 1999 |
+
"HP:0003484",
|
| 2000 |
+
"HP:0004325",
|
| 2001 |
+
"HP:0004396",
|
| 2002 |
+
"HP:0005108",
|
| 2003 |
+
"HP:0005201",
|
| 2004 |
+
"HP:0009027",
|
| 2005 |
+
"HP:0010741",
|
| 2006 |
+
"HP:0012050",
|
| 2007 |
+
"HP:0012514",
|
| 2008 |
+
"HP:0012534",
|
| 2009 |
+
"HP:0031508",
|
| 2010 |
+
"HP:0032290"
|
| 2011 |
+
],
|
| 2012 |
+
[
|
| 2013 |
+
"ORPHA:2905",
|
| 2014 |
+
"CCRD:91"
|
| 2015 |
+
]
|
| 2016 |
+
],
|
| 2017 |
+
[
|
| 2018 |
+
[
|
| 2019 |
+
"HP:0001085",
|
| 2020 |
+
"HP:0001397",
|
| 2021 |
+
"HP:0001658",
|
| 2022 |
+
"HP:0001677",
|
| 2023 |
+
"HP:0001744",
|
| 2024 |
+
"HP:0001894",
|
| 2025 |
+
"HP:0002092",
|
| 2026 |
+
"HP:0003261",
|
| 2027 |
+
"HP:0003551",
|
| 2028 |
+
"HP:0005625",
|
| 2029 |
+
"HP:0006698",
|
| 2030 |
+
"HP:0007220",
|
| 2031 |
+
"HP:0007340",
|
| 2032 |
+
"HP:0011402",
|
| 2033 |
+
"HP:0011711",
|
| 2034 |
+
"HP:0012135",
|
| 2035 |
+
"HP:0012534",
|
| 2036 |
+
"HP:0012651",
|
| 2037 |
+
"HP:0025168",
|
| 2038 |
+
"HP:0031295",
|
| 2039 |
+
"HP:0045010",
|
| 2040 |
+
"HP:0100711"
|
| 2041 |
+
],
|
| 2042 |
+
[
|
| 2043 |
+
"ORPHA:2905",
|
| 2044 |
+
"CCRD:91"
|
| 2045 |
+
]
|
| 2046 |
+
],
|
| 2047 |
+
[
|
| 2048 |
+
[
|
| 2049 |
+
"HP:0000093",
|
| 2050 |
+
"HP:0000095",
|
| 2051 |
+
"HP:0000126",
|
| 2052 |
+
"HP:0000464",
|
| 2053 |
+
"HP:0000790",
|
| 2054 |
+
"HP:0000821",
|
| 2055 |
+
"HP:0000822",
|
| 2056 |
+
"HP:0000953",
|
| 2057 |
+
"HP:0001072",
|
| 2058 |
+
"HP:0001541",
|
| 2059 |
+
"HP:0001698",
|
| 2060 |
+
"HP:0001711",
|
| 2061 |
+
"HP:0001744",
|
| 2062 |
+
"HP:0001824",
|
| 2063 |
+
"HP:0001894",
|
| 2064 |
+
"HP:0001969",
|
| 2065 |
+
"HP:0002014",
|
| 2066 |
+
"HP:0002140",
|
| 2067 |
+
"HP:0002149",
|
| 2068 |
+
"HP:0002153",
|
| 2069 |
+
"HP:0002202",
|
| 2070 |
+
"HP:0002716",
|
| 2071 |
+
"HP:0002840",
|
| 2072 |
+
"HP:0003259",
|
| 2073 |
+
"HP:0003261",
|
| 2074 |
+
"HP:0003270",
|
| 2075 |
+
"HP:0003474",
|
| 2076 |
+
"HP:0003551",
|
| 2077 |
+
"HP:0003565",
|
| 2078 |
+
"HP:0004295",
|
| 2079 |
+
"HP:0004387",
|
| 2080 |
+
"HP:0005180",
|
| 2081 |
+
"HP:0007340",
|
| 2082 |
+
"HP:0010741",
|
| 2083 |
+
"HP:0011732",
|
| 2084 |
+
"HP:0011733",
|
| 2085 |
+
"HP:0012534",
|
| 2086 |
+
"HP:0030237",
|
| 2087 |
+
"HP:0031508"
|
| 2088 |
+
],
|
| 2089 |
+
[
|
| 2090 |
+
"ORPHA:2905",
|
| 2091 |
+
"CCRD:91"
|
| 2092 |
+
]
|
| 2093 |
+
],
|
| 2094 |
+
[
|
| 2095 |
+
[
|
| 2096 |
+
"HP:0000282",
|
| 2097 |
+
"HP:0000787",
|
| 2098 |
+
"HP:0000790",
|
| 2099 |
+
"HP:0000821",
|
| 2100 |
+
"HP:0000958",
|
| 2101 |
+
"HP:0001541",
|
| 2102 |
+
"HP:0001640",
|
| 2103 |
+
"HP:0001646",
|
| 2104 |
+
"HP:0001698",
|
| 2105 |
+
"HP:0001744",
|
| 2106 |
+
"HP:0001824",
|
| 2107 |
+
"HP:0001903",
|
| 2108 |
+
"HP:0002092",
|
| 2109 |
+
"HP:0002149",
|
| 2110 |
+
"HP:0002202",
|
| 2111 |
+
"HP:0002360",
|
| 2112 |
+
"HP:0002729",
|
| 2113 |
+
"HP:0002875",
|
| 2114 |
+
"HP:0002901",
|
| 2115 |
+
"HP:0003073",
|
| 2116 |
+
"HP:0003259",
|
| 2117 |
+
"HP:0003270",
|
| 2118 |
+
"HP:0003546",
|
| 2119 |
+
"HP:0004332",
|
| 2120 |
+
"HP:0004348",
|
| 2121 |
+
"HP:0004396",
|
| 2122 |
+
"HP:0005133",
|
| 2123 |
+
"HP:0005231",
|
| 2124 |
+
"HP:0011227",
|
| 2125 |
+
"HP:0012514",
|
| 2126 |
+
"HP:0031185",
|
| 2127 |
+
"HP:0031245",
|
| 2128 |
+
"HP:0031507",
|
| 2129 |
+
"HP:0032335",
|
| 2130 |
+
"HP:0040189",
|
| 2131 |
+
"HP:0100016",
|
| 2132 |
+
"HP:0100281"
|
| 2133 |
+
],
|
| 2134 |
+
[
|
| 2135 |
+
"ORPHA:2905",
|
| 2136 |
+
"CCRD:91"
|
| 2137 |
+
]
|
| 2138 |
+
],
|
| 2139 |
+
[
|
| 2140 |
+
[
|
| 2141 |
+
"HP:0000020",
|
| 2142 |
+
"HP:0001433",
|
| 2143 |
+
"HP:0001538",
|
| 2144 |
+
"HP:0001945",
|
| 2145 |
+
"HP:0002205",
|
| 2146 |
+
"HP:0002254",
|
| 2147 |
+
"HP:0002527",
|
| 2148 |
+
"HP:0002607",
|
| 2149 |
+
"HP:0004333",
|
| 2150 |
+
"HP:0012735"
|
| 2151 |
+
],
|
| 2152 |
+
[
|
| 2153 |
+
"ORPHA:77293",
|
| 2154 |
+
"OMIM:607616",
|
| 2155 |
+
"CCRD:82.2",
|
| 2156 |
+
"CCRD:82.3",
|
| 2157 |
+
"OMIM:257220",
|
| 2158 |
+
"ORPHA:646",
|
| 2159 |
+
"OMIM:607625",
|
| 2160 |
+
"CCRD:82.1",
|
| 2161 |
+
"OMIM:257200"
|
| 2162 |
+
]
|
| 2163 |
+
],
|
| 2164 |
+
[
|
| 2165 |
+
[
|
| 2166 |
+
"HP:0000545",
|
| 2167 |
+
"HP:0000610",
|
| 2168 |
+
"HP:0001744",
|
| 2169 |
+
"HP:0001882",
|
| 2170 |
+
"HP:0001923",
|
| 2171 |
+
"HP:0002014",
|
| 2172 |
+
"HP:0002027",
|
| 2173 |
+
"HP:0002134",
|
| 2174 |
+
"HP:0002315",
|
| 2175 |
+
"HP:0002716",
|
| 2176 |
+
"HP:0003146",
|
| 2177 |
+
"HP:0004396",
|
| 2178 |
+
"HP:0006887",
|
| 2179 |
+
"HP:0008897",
|
| 2180 |
+
"HP:0100016",
|
| 2181 |
+
"HP:0430023"
|
| 2182 |
+
],
|
| 2183 |
+
[
|
| 2184 |
+
"ORPHA:77293",
|
| 2185 |
+
"OMIM:607616",
|
| 2186 |
+
"CCRD:82.2",
|
| 2187 |
+
"CCRD:82.3",
|
| 2188 |
+
"OMIM:257220",
|
| 2189 |
+
"ORPHA:646",
|
| 2190 |
+
"OMIM:607625",
|
| 2191 |
+
"CCRD:82.1",
|
| 2192 |
+
"OMIM:257200"
|
| 2193 |
+
]
|
| 2194 |
+
],
|
| 2195 |
+
[
|
| 2196 |
+
[
|
| 2197 |
+
"HP:0000093",
|
| 2198 |
+
"HP:0001433",
|
| 2199 |
+
"HP:0001640",
|
| 2200 |
+
"HP:0001873",
|
| 2201 |
+
"HP:0001875",
|
| 2202 |
+
"HP:0001876",
|
| 2203 |
+
"HP:0001882",
|
| 2204 |
+
"HP:0001903",
|
| 2205 |
+
"HP:0001923",
|
| 2206 |
+
"HP:0001933",
|
| 2207 |
+
"HP:0001981",
|
| 2208 |
+
"HP:0002013",
|
| 2209 |
+
"HP:0002018",
|
| 2210 |
+
"HP:0002027",
|
| 2211 |
+
"HP:0002240",
|
| 2212 |
+
"HP:0002643",
|
| 2213 |
+
"HP:0002788",
|
| 2214 |
+
"HP:0002908",
|
| 2215 |
+
"HP:0003146",
|
| 2216 |
+
"HP:0003546",
|
| 2217 |
+
"HP:0003568",
|
| 2218 |
+
"HP:0003573",
|
| 2219 |
+
"HP:0003645",
|
| 2220 |
+
"HP:0004445",
|
| 2221 |
+
"HP:0008940",
|
| 2222 |
+
"HP:0011273",
|
| 2223 |
+
"HP:0011877",
|
| 2224 |
+
"HP:0012130",
|
| 2225 |
+
"HP:0012143",
|
| 2226 |
+
"HP:0012437",
|
| 2227 |
+
"HP:0031295"
|
| 2228 |
+
],
|
| 2229 |
+
[
|
| 2230 |
+
"ORPHA:77293",
|
| 2231 |
+
"OMIM:607616",
|
| 2232 |
+
"CCRD:82.2",
|
| 2233 |
+
"CCRD:82.3",
|
| 2234 |
+
"OMIM:257220",
|
| 2235 |
+
"ORPHA:646",
|
| 2236 |
+
"OMIM:607625",
|
| 2237 |
+
"CCRD:82.1",
|
| 2238 |
+
"OMIM:257200"
|
| 2239 |
+
]
|
| 2240 |
+
],
|
| 2241 |
+
[
|
| 2242 |
+
[
|
| 2243 |
+
"HP:0000023",
|
| 2244 |
+
"HP:0000211",
|
| 2245 |
+
"HP:0001249",
|
| 2246 |
+
"HP:0001250",
|
| 2247 |
+
"HP:0001260",
|
| 2248 |
+
"HP:0001281",
|
| 2249 |
+
"HP:0001288",
|
| 2250 |
+
"HP:0001350",
|
| 2251 |
+
"HP:0001744",
|
| 2252 |
+
"HP:0001883",
|
| 2253 |
+
"HP:0002088",
|
| 2254 |
+
"HP:0002307",
|
| 2255 |
+
"HP:0002354",
|
| 2256 |
+
"HP:0002357",
|
| 2257 |
+
"HP:0002442",
|
| 2258 |
+
"HP:0002500",
|
| 2259 |
+
"HP:0007064",
|
| 2260 |
+
"HP:0007185",
|
| 2261 |
+
"HP:0011441",
|
| 2262 |
+
"HP:0430023"
|
| 2263 |
+
],
|
| 2264 |
+
[
|
| 2265 |
+
"ORPHA:77293",
|
| 2266 |
+
"OMIM:607616",
|
| 2267 |
+
"CCRD:82.2",
|
| 2268 |
+
"CCRD:82.3",
|
| 2269 |
+
"OMIM:257220",
|
| 2270 |
+
"ORPHA:646",
|
| 2271 |
+
"OMIM:607625",
|
| 2272 |
+
"CCRD:82.1",
|
| 2273 |
+
"OMIM:257200"
|
| 2274 |
+
]
|
| 2275 |
+
],
|
| 2276 |
+
[
|
| 2277 |
+
[
|
| 2278 |
+
"HP:0000823",
|
| 2279 |
+
"HP:0000952",
|
| 2280 |
+
"HP:0000978",
|
| 2281 |
+
"HP:0001433",
|
| 2282 |
+
"HP:0001633",
|
| 2283 |
+
"HP:0001635",
|
| 2284 |
+
"HP:0001640",
|
| 2285 |
+
"HP:0001646",
|
| 2286 |
+
"HP:0001653",
|
| 2287 |
+
"HP:0001698",
|
| 2288 |
+
"HP:0001712",
|
| 2289 |
+
"HP:0001744",
|
| 2290 |
+
"HP:0001873",
|
| 2291 |
+
"HP:0001875",
|
| 2292 |
+
"HP:0001876",
|
| 2293 |
+
"HP:0001882",
|
| 2294 |
+
"HP:0001903",
|
| 2295 |
+
"HP:0001945",
|
| 2296 |
+
"HP:0001948",
|
| 2297 |
+
"HP:0002092",
|
| 2298 |
+
"HP:0002249",
|
| 2299 |
+
"HP:0002875",
|
| 2300 |
+
"HP:0002900",
|
| 2301 |
+
"HP:0002908",
|
| 2302 |
+
"HP:0003073",
|
| 2303 |
+
"HP:0003270",
|
| 2304 |
+
"HP:0003324",
|
| 2305 |
+
"HP:0003546",
|
| 2306 |
+
"HP:0003573",
|
| 2307 |
+
"HP:0004325",
|
| 2308 |
+
"HP:0004406",
|
| 2309 |
+
"HP:0005201",
|
| 2310 |
+
"HP:0005213",
|
| 2311 |
+
"HP:0005619",
|
| 2312 |
+
"HP:0006530",
|
| 2313 |
+
"HP:0006559",
|
| 2314 |
+
"HP:0008151",
|
| 2315 |
+
"HP:0008897",
|
| 2316 |
+
"HP:0011037",
|
| 2317 |
+
"HP:0011103",
|
| 2318 |
+
"HP:0011900",
|
| 2319 |
+
"HP:0012251",
|
| 2320 |
+
"HP:0012531",
|
| 2321 |
+
"HP:0030872",
|
| 2322 |
+
"HP:0031185",
|
| 2323 |
+
"HP:0031245",
|
| 2324 |
+
"HP:0031295"
|
| 2325 |
+
],
|
| 2326 |
+
[
|
| 2327 |
+
"ORPHA:77293",
|
| 2328 |
+
"OMIM:607616",
|
| 2329 |
+
"CCRD:82.2",
|
| 2330 |
+
"CCRD:82.3",
|
| 2331 |
+
"OMIM:257220",
|
| 2332 |
+
"ORPHA:646",
|
| 2333 |
+
"OMIM:607625",
|
| 2334 |
+
"CCRD:82.1",
|
| 2335 |
+
"OMIM:257200"
|
| 2336 |
+
]
|
| 2337 |
+
]
|
| 2338 |
+
]
|
RDpatient_data/Public/HMS.json
ADDED
|
@@ -0,0 +1,2493 @@
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|
|
|
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|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
| 1 |
+
[
|
| 2 |
+
[
|
| 3 |
+
[
|
| 4 |
+
"HP:0001225",
|
| 5 |
+
"HP:0001382",
|
| 6 |
+
"HP:0001443",
|
| 7 |
+
"HP:0001894",
|
| 8 |
+
"HP:0001974",
|
| 9 |
+
"HP:0003419",
|
| 10 |
+
"HP:0025238",
|
| 11 |
+
"HP:0030833",
|
| 12 |
+
"HP:0030834",
|
| 13 |
+
"HP:0030835",
|
| 14 |
+
"HP:0030836",
|
| 15 |
+
"HP:0030839"
|
| 16 |
+
],
|
| 17 |
+
[
|
| 18 |
+
"OMIM:106300"
|
| 19 |
+
]
|
| 20 |
+
],
|
| 21 |
+
[
|
| 22 |
+
[
|
| 23 |
+
"HP:0000793",
|
| 24 |
+
"HP:0001974",
|
| 25 |
+
"HP:0002205",
|
| 26 |
+
"HP:0002633",
|
| 27 |
+
"HP:0003496",
|
| 28 |
+
"HP:0100778"
|
| 29 |
+
],
|
| 30 |
+
[
|
| 31 |
+
"OMIM:123550",
|
| 32 |
+
"ORPHA:91138"
|
| 33 |
+
]
|
| 34 |
+
],
|
| 35 |
+
[
|
| 36 |
+
[
|
| 37 |
+
"HP:0000155",
|
| 38 |
+
"HP:0000246",
|
| 39 |
+
"HP:0000360",
|
| 40 |
+
"HP:0000365",
|
| 41 |
+
"HP:0000572",
|
| 42 |
+
"HP:0000651",
|
| 43 |
+
"HP:0000787",
|
| 44 |
+
"HP:0000790",
|
| 45 |
+
"HP:0001097",
|
| 46 |
+
"HP:0001155",
|
| 47 |
+
"HP:0001279",
|
| 48 |
+
"HP:0001369",
|
| 49 |
+
"HP:0001880",
|
| 50 |
+
"HP:0001947",
|
| 51 |
+
"HP:0002018",
|
| 52 |
+
"HP:0002027",
|
| 53 |
+
"HP:0002150",
|
| 54 |
+
"HP:0002315",
|
| 55 |
+
"HP:0002321",
|
| 56 |
+
"HP:0002653",
|
| 57 |
+
"HP:0002875",
|
| 58 |
+
"HP:0003236",
|
| 59 |
+
"HP:0003326",
|
| 60 |
+
"HP:0003401",
|
| 61 |
+
"HP:0003418",
|
| 62 |
+
"HP:0003474",
|
| 63 |
+
"HP:0003537",
|
| 64 |
+
"HP:0004411",
|
| 65 |
+
"HP:0005197",
|
| 66 |
+
"HP:0009763",
|
| 67 |
+
"HP:0011935",
|
| 68 |
+
"HP:0012378",
|
| 69 |
+
"HP:0012595",
|
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| 516 |
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| 517 |
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| 518 |
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| 519 |
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| 520 |
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| 521 |
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| 523 |
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| 524 |
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| 525 |
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],
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[
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| 527 |
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| 528 |
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| 529 |
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| 530 |
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]
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| 531 |
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],
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| 533 |
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| 534 |
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| 536 |
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| 537 |
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| 538 |
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| 539 |
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| 540 |
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| 541 |
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| 542 |
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| 547 |
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],
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[
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| 555 |
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| 556 |
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| 557 |
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| 558 |
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| 559 |
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| 560 |
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| 561 |
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| 562 |
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| 563 |
+
]
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| 564 |
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],
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[
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| 570 |
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| 587 |
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| 595 |
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[
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| 599 |
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| 600 |
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| 601 |
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]
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| 602 |
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],
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[
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| 604 |
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[
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| 605 |
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| 606 |
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| 607 |
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| 608 |
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| 609 |
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| 610 |
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| 611 |
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| 612 |
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| 613 |
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| 614 |
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| 615 |
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| 616 |
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| 617 |
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| 618 |
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| 619 |
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| 620 |
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| 621 |
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| 624 |
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| 625 |
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| 633 |
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| 637 |
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],
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[
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| 640 |
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| 641 |
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| 642 |
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]
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],
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| 645 |
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| 646 |
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| 647 |
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| 648 |
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| 649 |
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| 650 |
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| 651 |
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| 652 |
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| 653 |
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| 654 |
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| 655 |
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| 657 |
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| 658 |
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| 659 |
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| 660 |
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| 661 |
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| 662 |
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| 663 |
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| 664 |
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| 665 |
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| 666 |
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| 667 |
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| 668 |
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| 669 |
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| 670 |
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| 671 |
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| 672 |
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| 673 |
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| 674 |
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| 675 |
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| 676 |
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| 677 |
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],
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| 678 |
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[
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| 679 |
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"ORPHA:81"
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| 680 |
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]
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| 681 |
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],
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| 682 |
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| 683 |
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| 684 |
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| 685 |
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| 686 |
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| 687 |
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| 688 |
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| 689 |
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| 690 |
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| 691 |
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| 692 |
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| 693 |
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| 694 |
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| 695 |
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| 696 |
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],
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| 698 |
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| 699 |
+
]
|
| 700 |
+
],
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| 701 |
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[
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| 702 |
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[
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| 703 |
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| 704 |
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| 705 |
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"HP:0002094",
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| 706 |
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| 707 |
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| 708 |
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| 709 |
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| 710 |
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| 711 |
+
],
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| 712 |
+
[
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| 713 |
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| 714 |
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]
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| 715 |
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],
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| 716 |
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| 717 |
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[
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| 718 |
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| 719 |
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| 720 |
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| 721 |
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| 722 |
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| 723 |
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| 724 |
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| 725 |
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| 726 |
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| 727 |
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| 728 |
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| 729 |
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| 730 |
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| 731 |
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| 732 |
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| 733 |
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| 734 |
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| 735 |
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| 736 |
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| 737 |
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| 738 |
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| 739 |
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| 740 |
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| 741 |
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| 742 |
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| 743 |
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| 744 |
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| 745 |
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| 746 |
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| 747 |
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| 748 |
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| 749 |
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"HP:0410281"
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| 750 |
+
],
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| 751 |
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[
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| 752 |
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"ORPHA:81"
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| 753 |
+
]
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| 754 |
+
],
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| 755 |
+
[
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| 756 |
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[
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| 757 |
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|
| 758 |
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| 759 |
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"HP:0000433",
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| 760 |
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| 761 |
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| 762 |
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| 763 |
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| 764 |
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| 765 |
+
],
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| 766 |
+
[
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| 767 |
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|
| 768 |
+
"ORPHA:900"
|
| 769 |
+
]
|
| 770 |
+
],
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| 771 |
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[
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| 772 |
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[
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| 773 |
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| 774 |
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| 775 |
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|
| 776 |
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| 777 |
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| 778 |
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| 779 |
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| 780 |
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| 781 |
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| 782 |
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| 783 |
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| 784 |
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| 785 |
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| 786 |
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| 787 |
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| 788 |
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| 789 |
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| 790 |
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| 791 |
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| 792 |
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| 793 |
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| 794 |
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| 795 |
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|
| 796 |
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|
| 797 |
+
],
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| 798 |
+
[
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| 799 |
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"OMIM:106300",
|
| 800 |
+
"OMIM:183840"
|
| 801 |
+
]
|
| 802 |
+
],
|
| 803 |
+
[
|
| 804 |
+
[
|
| 805 |
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|
| 806 |
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|
| 807 |
+
"HP:0003565",
|
| 808 |
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"HP:0011227",
|
| 809 |
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"HP:0030793",
|
| 810 |
+
"HP:0040264",
|
| 811 |
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"HP:0100774",
|
| 812 |
+
"HP:0100847"
|
| 813 |
+
],
|
| 814 |
+
[
|
| 815 |
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"ORPHA:793"
|
| 816 |
+
]
|
| 817 |
+
],
|
| 818 |
+
[
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| 819 |
+
[
|
| 820 |
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"HP:0002814",
|
| 821 |
+
"HP:0002907",
|
| 822 |
+
"HP:0003236",
|
| 823 |
+
"HP:0003401",
|
| 824 |
+
"HP:0003565",
|
| 825 |
+
"HP:0008151",
|
| 826 |
+
"HP:0011227",
|
| 827 |
+
"HP:0012733",
|
| 828 |
+
"HP:0045042",
|
| 829 |
+
"HP:0200041"
|
| 830 |
+
],
|
| 831 |
+
[
|
| 832 |
+
"OMIM:615688",
|
| 833 |
+
"ORPHA:767"
|
| 834 |
+
]
|
| 835 |
+
],
|
| 836 |
+
[
|
| 837 |
+
[
|
| 838 |
+
"HP:0001824",
|
| 839 |
+
"HP:0001882",
|
| 840 |
+
"HP:0002094",
|
| 841 |
+
"HP:0002321",
|
| 842 |
+
"HP:0003236",
|
| 843 |
+
"HP:0003546",
|
| 844 |
+
"HP:0025179",
|
| 845 |
+
"HP:0025238",
|
| 846 |
+
"HP:0030057",
|
| 847 |
+
"HP:0045051"
|
| 848 |
+
],
|
| 849 |
+
[
|
| 850 |
+
"ORPHA:81"
|
| 851 |
+
]
|
| 852 |
+
],
|
| 853 |
+
[
|
| 854 |
+
[
|
| 855 |
+
"HP:0000072",
|
| 856 |
+
"HP:0001744",
|
| 857 |
+
"HP:0003259",
|
| 858 |
+
"HP:0004942",
|
| 859 |
+
"HP:0005200",
|
| 860 |
+
"HP:0008714",
|
| 861 |
+
"HP:0011227",
|
| 862 |
+
"HP:0030150",
|
| 863 |
+
"HP:0030423",
|
| 864 |
+
"HP:0032300",
|
| 865 |
+
"HP:0100581"
|
| 866 |
+
],
|
| 867 |
+
[
|
| 868 |
+
"ORPHA:49041"
|
| 869 |
+
]
|
| 870 |
+
],
|
| 871 |
+
[
|
| 872 |
+
[
|
| 873 |
+
"HP:0000017",
|
| 874 |
+
"HP:0001600",
|
| 875 |
+
"HP:0001824",
|
| 876 |
+
"HP:0001873",
|
| 877 |
+
"HP:0001903",
|
| 878 |
+
"HP:0001945",
|
| 879 |
+
"HP:0001974",
|
| 880 |
+
"HP:0002315",
|
| 881 |
+
"HP:0002923",
|
| 882 |
+
"HP:0003165",
|
| 883 |
+
"HP:0003262",
|
| 884 |
+
"HP:0003326",
|
| 885 |
+
"HP:0005339",
|
| 886 |
+
"HP:0010931",
|
| 887 |
+
"HP:0011227",
|
| 888 |
+
"HP:0012213",
|
| 889 |
+
"HP:0012514",
|
| 890 |
+
"HP:0012664",
|
| 891 |
+
"HP:0030155",
|
| 892 |
+
"HP:0030166",
|
| 893 |
+
"HP:0030948",
|
| 894 |
+
"HP:0031520",
|
| 895 |
+
"HP:0032300",
|
| 896 |
+
"HP:0100512",
|
| 897 |
+
"HP:0100614"
|
| 898 |
+
],
|
| 899 |
+
[
|
| 900 |
+
"ORPHA:732"
|
| 901 |
+
]
|
| 902 |
+
],
|
| 903 |
+
[
|
| 904 |
+
[
|
| 905 |
+
"HP:0000010",
|
| 906 |
+
"HP:0001155",
|
| 907 |
+
"HP:0001225",
|
| 908 |
+
"HP:0001443",
|
| 909 |
+
"HP:0001882",
|
| 910 |
+
"HP:0001935",
|
| 911 |
+
"HP:0001943",
|
| 912 |
+
"HP:0002315",
|
| 913 |
+
"HP:0002321",
|
| 914 |
+
"HP:0003401",
|
| 915 |
+
"HP:0003416",
|
| 916 |
+
"HP:0003418",
|
| 917 |
+
"HP:0003474",
|
| 918 |
+
"HP:0003565",
|
| 919 |
+
"HP:0005197",
|
| 920 |
+
"HP:0005421",
|
| 921 |
+
"HP:0006979",
|
| 922 |
+
"HP:0011227",
|
| 923 |
+
"HP:0012317",
|
| 924 |
+
"HP:0012513",
|
| 925 |
+
"HP:0025230",
|
| 926 |
+
"HP:0030834",
|
| 927 |
+
"HP:0030836",
|
| 928 |
+
"HP:0030839",
|
| 929 |
+
"HP:0031185",
|
| 930 |
+
"HP:0100686"
|
| 931 |
+
],
|
| 932 |
+
[
|
| 933 |
+
"OMIM:106300",
|
| 934 |
+
"OMIM:183840"
|
| 935 |
+
]
|
| 936 |
+
],
|
| 937 |
+
[
|
| 938 |
+
[
|
| 939 |
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"HP:0000103",
|
| 940 |
+
"HP:0001061",
|
| 941 |
+
"HP:0001959",
|
| 942 |
+
"HP:0002315",
|
| 943 |
+
"HP:0002815",
|
| 944 |
+
"HP:0002829",
|
| 945 |
+
"HP:0003236",
|
| 946 |
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"HP:0005197",
|
| 947 |
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"HP:0011911",
|
| 948 |
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"HP:0012378",
|
| 949 |
+
"HP:0025238",
|
| 950 |
+
"HP:0030835",
|
| 951 |
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"HP:0030836",
|
| 952 |
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"HP:0030839",
|
| 953 |
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"HP:0030841",
|
| 954 |
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"HP:0032300"
|
| 955 |
+
],
|
| 956 |
+
[
|
| 957 |
+
"CCRD:28",
|
| 958 |
+
"OMIM:134610",
|
| 959 |
+
"OMIM:249100",
|
| 960 |
+
"ORPHA:29207",
|
| 961 |
+
"ORPHA:342",
|
| 962 |
+
"ORPHA:85408",
|
| 963 |
+
"ORPHA:85414",
|
| 964 |
+
"ORPHA:85435"
|
| 965 |
+
]
|
| 966 |
+
],
|
| 967 |
+
[
|
| 968 |
+
[
|
| 969 |
+
"HP:0000155",
|
| 970 |
+
"HP:0000651",
|
| 971 |
+
"HP:0001167",
|
| 972 |
+
"HP:0001279",
|
| 973 |
+
"HP:0001369",
|
| 974 |
+
"HP:0001945",
|
| 975 |
+
"HP:0001974",
|
| 976 |
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"HP:0002315",
|
| 977 |
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"HP:0002907",
|
| 978 |
+
"HP:0003043",
|
| 979 |
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"HP:0003249",
|
| 980 |
+
"HP:0003326",
|
| 981 |
+
"HP:0003401",
|
| 982 |
+
"HP:0003418",
|
| 983 |
+
"HP:0003474",
|
| 984 |
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"HP:0003546",
|
| 985 |
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"HP:0003565",
|
| 986 |
+
"HP:0005413",
|
| 987 |
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"HP:0011227",
|
| 988 |
+
"HP:0011706",
|
| 989 |
+
"HP:0012378",
|
| 990 |
+
"HP:0012574",
|
| 991 |
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"HP:0012595",
|
| 992 |
+
"HP:0030837",
|
| 993 |
+
"HP:0032154",
|
| 994 |
+
"HP:0032308"
|
| 995 |
+
],
|
| 996 |
+
[
|
| 997 |
+
"CCRD:28",
|
| 998 |
+
"OMIM:109650",
|
| 999 |
+
"OMIM:134610",
|
| 1000 |
+
"OMIM:249100",
|
| 1001 |
+
"ORPHA:117",
|
| 1002 |
+
"ORPHA:342"
|
| 1003 |
+
]
|
| 1004 |
+
],
|
| 1005 |
+
[
|
| 1006 |
+
[
|
| 1007 |
+
"HP:0000365",
|
| 1008 |
+
"HP:0000421",
|
| 1009 |
+
"HP:0001288",
|
| 1010 |
+
"HP:0001945",
|
| 1011 |
+
"HP:0003326",
|
| 1012 |
+
"HP:0011227",
|
| 1013 |
+
"HP:0012378",
|
| 1014 |
+
"HP:0012514",
|
| 1015 |
+
"HP:0030766",
|
| 1016 |
+
"HP:0032230"
|
| 1017 |
+
],
|
| 1018 |
+
[
|
| 1019 |
+
"OMIM:608710",
|
| 1020 |
+
"ORPHA:900"
|
| 1021 |
+
]
|
| 1022 |
+
],
|
| 1023 |
+
[
|
| 1024 |
+
[
|
| 1025 |
+
"HP:0000083",
|
| 1026 |
+
"HP:0000093",
|
| 1027 |
+
"HP:0000099",
|
| 1028 |
+
"HP:0000141",
|
| 1029 |
+
"HP:0000790",
|
| 1030 |
+
"HP:0001369",
|
| 1031 |
+
"HP:0001744",
|
| 1032 |
+
"HP:0001935",
|
| 1033 |
+
"HP:0002015",
|
| 1034 |
+
"HP:0002094",
|
| 1035 |
+
"HP:0002240",
|
| 1036 |
+
"HP:0003493",
|
| 1037 |
+
"HP:0003645",
|
| 1038 |
+
"HP:0004326",
|
| 1039 |
+
"HP:0012213",
|
| 1040 |
+
"HP:0012398",
|
| 1041 |
+
"HP:0031504",
|
| 1042 |
+
"HP:0032235",
|
| 1043 |
+
"HP:0045073",
|
| 1044 |
+
"HP:0100643"
|
| 1045 |
+
],
|
| 1046 |
+
[
|
| 1047 |
+
"OMIM:152700",
|
| 1048 |
+
"OMIM:606579",
|
| 1049 |
+
"OMIM:609939",
|
| 1050 |
+
"OMIM:614420",
|
| 1051 |
+
"ORPHA:809",
|
| 1052 |
+
"ORPHA:93552"
|
| 1053 |
+
]
|
| 1054 |
+
],
|
| 1055 |
+
[
|
| 1056 |
+
[
|
| 1057 |
+
"HP:0000103",
|
| 1058 |
+
"HP:0000572",
|
| 1059 |
+
"HP:0000790",
|
| 1060 |
+
"HP:0000958",
|
| 1061 |
+
"HP:0001097",
|
| 1062 |
+
"HP:0001337",
|
| 1063 |
+
"HP:0002014",
|
| 1064 |
+
"HP:0002019",
|
| 1065 |
+
"HP:0002046",
|
| 1066 |
+
"HP:0002076",
|
| 1067 |
+
"HP:0002875",
|
| 1068 |
+
"HP:0003326",
|
| 1069 |
+
"HP:0003546",
|
| 1070 |
+
"HP:0011123",
|
| 1071 |
+
"HP:0012378",
|
| 1072 |
+
"HP:0012735",
|
| 1073 |
+
"HP:0030972",
|
| 1074 |
+
"HP:0032300",
|
| 1075 |
+
"HP:0410281"
|
| 1076 |
+
],
|
| 1077 |
+
[
|
| 1078 |
+
"CCRD:56",
|
| 1079 |
+
"OMIM:228800",
|
| 1080 |
+
"ORPHA:49041"
|
| 1081 |
+
]
|
| 1082 |
+
],
|
| 1083 |
+
[
|
| 1084 |
+
[
|
| 1085 |
+
"HP:0000246",
|
| 1086 |
+
"HP:0000366",
|
| 1087 |
+
"HP:0000388",
|
| 1088 |
+
"HP:0001945",
|
| 1089 |
+
"HP:0002315",
|
| 1090 |
+
"HP:0003546",
|
| 1091 |
+
"HP:0030835",
|
| 1092 |
+
"HP:0030839"
|
| 1093 |
+
],
|
| 1094 |
+
[
|
| 1095 |
+
"OMIM:608710",
|
| 1096 |
+
"ORPHA:900"
|
| 1097 |
+
]
|
| 1098 |
+
],
|
| 1099 |
+
[
|
| 1100 |
+
[
|
| 1101 |
+
"HP:0000772",
|
| 1102 |
+
"HP:0000939",
|
| 1103 |
+
"HP:0002650",
|
| 1104 |
+
"HP:0002829",
|
| 1105 |
+
"HP:0003124",
|
| 1106 |
+
"HP:0003282",
|
| 1107 |
+
"HP:0003326",
|
| 1108 |
+
"HP:0003394",
|
| 1109 |
+
"HP:0003418",
|
| 1110 |
+
"HP:0003493",
|
| 1111 |
+
"HP:0008422",
|
| 1112 |
+
"HP:0012184",
|
| 1113 |
+
"HP:0030839",
|
| 1114 |
+
"HP:0030840"
|
| 1115 |
+
],
|
| 1116 |
+
[
|
| 1117 |
+
"CCRD:50",
|
| 1118 |
+
"OMIM:146300",
|
| 1119 |
+
"ORPHA:436"
|
| 1120 |
+
]
|
| 1121 |
+
],
|
| 1122 |
+
[
|
| 1123 |
+
[
|
| 1124 |
+
"HP:0000089",
|
| 1125 |
+
"HP:0000097",
|
| 1126 |
+
"HP:0000121",
|
| 1127 |
+
"HP:0001397",
|
| 1128 |
+
"HP:0001407",
|
| 1129 |
+
"HP:0001744",
|
| 1130 |
+
"HP:0001873",
|
| 1131 |
+
"HP:0002014",
|
| 1132 |
+
"HP:0002149",
|
| 1133 |
+
"HP:0002153",
|
| 1134 |
+
"HP:0003043",
|
| 1135 |
+
"HP:0003138",
|
| 1136 |
+
"HP:0003149",
|
| 1137 |
+
"HP:0003165",
|
| 1138 |
+
"HP:0003259",
|
| 1139 |
+
"HP:0003281",
|
| 1140 |
+
"HP:0003493",
|
| 1141 |
+
"HP:0003565",
|
| 1142 |
+
"HP:0005339",
|
| 1143 |
+
"HP:0012185",
|
| 1144 |
+
"HP:0012213",
|
| 1145 |
+
"HP:0012513",
|
| 1146 |
+
"HP:0012514",
|
| 1147 |
+
"HP:0012611",
|
| 1148 |
+
"HP:0020181",
|
| 1149 |
+
"HP:0025020",
|
| 1150 |
+
"HP:0030833",
|
| 1151 |
+
"HP:0030834",
|
| 1152 |
+
"HP:0030873",
|
| 1153 |
+
"HP:0100529"
|
| 1154 |
+
],
|
| 1155 |
+
[
|
| 1156 |
+
"OMIM:181750",
|
| 1157 |
+
"ORPHA:90290"
|
| 1158 |
+
]
|
| 1159 |
+
],
|
| 1160 |
+
[
|
| 1161 |
+
[
|
| 1162 |
+
"HP:0000246",
|
| 1163 |
+
"HP:0000433",
|
| 1164 |
+
"HP:0000822",
|
| 1165 |
+
"HP:0000853",
|
| 1166 |
+
"HP:0001653",
|
| 1167 |
+
"HP:0001785",
|
| 1168 |
+
"HP:0001824",
|
| 1169 |
+
"HP:0001945",
|
| 1170 |
+
"HP:0002875",
|
| 1171 |
+
"HP:0003324",
|
| 1172 |
+
"HP:0003493",
|
| 1173 |
+
"HP:0003546",
|
| 1174 |
+
"HP:0004930",
|
| 1175 |
+
"HP:0010741",
|
| 1176 |
+
"HP:0011227",
|
| 1177 |
+
"HP:0012378",
|
| 1178 |
+
"HP:0012398",
|
| 1179 |
+
"HP:0012735",
|
| 1180 |
+
"HP:0025179",
|
| 1181 |
+
"HP:0030166",
|
| 1182 |
+
"HP:0030839",
|
| 1183 |
+
"HP:0030841",
|
| 1184 |
+
"HP:0031394",
|
| 1185 |
+
"HP:0100827"
|
| 1186 |
+
],
|
| 1187 |
+
[
|
| 1188 |
+
"ORPHA:81"
|
| 1189 |
+
]
|
| 1190 |
+
],
|
| 1191 |
+
[
|
| 1192 |
+
[
|
| 1193 |
+
"HP:0001025",
|
| 1194 |
+
"HP:0001369",
|
| 1195 |
+
"HP:0001945",
|
| 1196 |
+
"HP:0003115",
|
| 1197 |
+
"HP:0005115",
|
| 1198 |
+
"HP:0008619",
|
| 1199 |
+
"HP:0011227",
|
| 1200 |
+
"HP:0025269",
|
| 1201 |
+
"HP:0030839"
|
| 1202 |
+
],
|
| 1203 |
+
[
|
| 1204 |
+
"OMIM:120100",
|
| 1205 |
+
"OMIM:142680",
|
| 1206 |
+
"OMIM:191900",
|
| 1207 |
+
"OMIM:607115",
|
| 1208 |
+
"OMIM:611762",
|
| 1209 |
+
"OMIM:614468",
|
| 1210 |
+
"OMIM:616115",
|
| 1211 |
+
"ORPHA:1451",
|
| 1212 |
+
"ORPHA:32960",
|
| 1213 |
+
"ORPHA:47045",
|
| 1214 |
+
"ORPHA:575"
|
| 1215 |
+
]
|
| 1216 |
+
],
|
| 1217 |
+
[
|
| 1218 |
+
[
|
| 1219 |
+
"HP:0001063",
|
| 1220 |
+
"HP:0001780",
|
| 1221 |
+
"HP:0001945",
|
| 1222 |
+
"HP:0002240",
|
| 1223 |
+
"HP:0002625",
|
| 1224 |
+
"HP:0002633",
|
| 1225 |
+
"HP:0003419",
|
| 1226 |
+
"HP:0004326",
|
| 1227 |
+
"HP:0004420",
|
| 1228 |
+
"HP:0008940",
|
| 1229 |
+
"HP:0009098",
|
| 1230 |
+
"HP:0010287",
|
| 1231 |
+
"HP:0010783",
|
| 1232 |
+
"HP:0012378",
|
| 1233 |
+
"HP:0012398",
|
| 1234 |
+
"HP:0025203",
|
| 1235 |
+
"HP:0025238",
|
| 1236 |
+
"HP:0030242",
|
| 1237 |
+
"HP:0100758"
|
| 1238 |
+
],
|
| 1239 |
+
[
|
| 1240 |
+
"OMIM:211480",
|
| 1241 |
+
"OMIM:615688",
|
| 1242 |
+
"ORPHA:36258",
|
| 1243 |
+
"ORPHA:767"
|
| 1244 |
+
]
|
| 1245 |
+
],
|
| 1246 |
+
[
|
| 1247 |
+
[
|
| 1248 |
+
"HP:0000421",
|
| 1249 |
+
"HP:0001824",
|
| 1250 |
+
"HP:0002076",
|
| 1251 |
+
"HP:0002321",
|
| 1252 |
+
"HP:0002633",
|
| 1253 |
+
"HP:0003326",
|
| 1254 |
+
"HP:0003546",
|
| 1255 |
+
"HP:0003565",
|
| 1256 |
+
"HP:0030766",
|
| 1257 |
+
"HP:0030833",
|
| 1258 |
+
"HP:0100546"
|
| 1259 |
+
],
|
| 1260 |
+
[
|
| 1261 |
+
"OMIM:207600",
|
| 1262 |
+
"ORPHA:3287"
|
| 1263 |
+
]
|
| 1264 |
+
],
|
| 1265 |
+
[
|
| 1266 |
+
[
|
| 1267 |
+
"HP:0000083",
|
| 1268 |
+
"HP:0000155",
|
| 1269 |
+
"HP:0000366",
|
| 1270 |
+
"HP:0000377",
|
| 1271 |
+
"HP:0000766",
|
| 1272 |
+
"HP:0001041",
|
| 1273 |
+
"HP:0001635",
|
| 1274 |
+
"HP:0001649",
|
| 1275 |
+
"HP:0001659",
|
| 1276 |
+
"HP:0001962",
|
| 1277 |
+
"HP:0002149",
|
| 1278 |
+
"HP:0002202",
|
| 1279 |
+
"HP:0002716",
|
| 1280 |
+
"HP:0002907",
|
| 1281 |
+
"HP:0003149",
|
| 1282 |
+
"HP:0003326",
|
| 1283 |
+
"HP:0003418",
|
| 1284 |
+
"HP:0003546",
|
| 1285 |
+
"HP:0003565",
|
| 1286 |
+
"HP:0011227",
|
| 1287 |
+
"HP:0011713",
|
| 1288 |
+
"HP:0011911",
|
| 1289 |
+
"HP:0012317",
|
| 1290 |
+
"HP:0012378",
|
| 1291 |
+
"HP:0012611",
|
| 1292 |
+
"HP:0025238",
|
| 1293 |
+
"HP:0030835",
|
| 1294 |
+
"HP:0030840",
|
| 1295 |
+
"HP:0032154",
|
| 1296 |
+
"HP:0100686"
|
| 1297 |
+
],
|
| 1298 |
+
[
|
| 1299 |
+
"ORPHA:728"
|
| 1300 |
+
]
|
| 1301 |
+
],
|
| 1302 |
+
[
|
| 1303 |
+
[
|
| 1304 |
+
"HP:0001138",
|
| 1305 |
+
"HP:0002910",
|
| 1306 |
+
"HP:0003124",
|
| 1307 |
+
"HP:0003141",
|
| 1308 |
+
"HP:0007042",
|
| 1309 |
+
"HP:0007663",
|
| 1310 |
+
"HP:0012756",
|
| 1311 |
+
"HP:0025343",
|
| 1312 |
+
"HP:0030833",
|
| 1313 |
+
"HP:0030948",
|
| 1314 |
+
"HP:0200149"
|
| 1315 |
+
],
|
| 1316 |
+
[
|
| 1317 |
+
"OMIM:107320"
|
| 1318 |
+
]
|
| 1319 |
+
],
|
| 1320 |
+
[
|
| 1321 |
+
[
|
| 1322 |
+
"HP:0001824",
|
| 1323 |
+
"HP:0002829",
|
| 1324 |
+
"HP:0003259",
|
| 1325 |
+
"HP:0003493",
|
| 1326 |
+
"HP:0003546",
|
| 1327 |
+
"HP:0012378",
|
| 1328 |
+
"HP:0012452",
|
| 1329 |
+
"HP:0100643"
|
| 1330 |
+
],
|
| 1331 |
+
[
|
| 1332 |
+
"CCRD:112",
|
| 1333 |
+
"OMIM:181750",
|
| 1334 |
+
"ORPHA:220393",
|
| 1335 |
+
"ORPHA:220402",
|
| 1336 |
+
"ORPHA:90290",
|
| 1337 |
+
"ORPHA:90291"
|
| 1338 |
+
]
|
| 1339 |
+
],
|
| 1340 |
+
[
|
| 1341 |
+
[
|
| 1342 |
+
"HP:0000083",
|
| 1343 |
+
"HP:0000093",
|
| 1344 |
+
"HP:0000100",
|
| 1345 |
+
"HP:0000790",
|
| 1346 |
+
"HP:0000793",
|
| 1347 |
+
"HP:0000822",
|
| 1348 |
+
"HP:0000979",
|
| 1349 |
+
"HP:0001744",
|
| 1350 |
+
"HP:0001785",
|
| 1351 |
+
"HP:0001942",
|
| 1352 |
+
"HP:0002018",
|
| 1353 |
+
"HP:0002027",
|
| 1354 |
+
"HP:0002094",
|
| 1355 |
+
"HP:0002101",
|
| 1356 |
+
"HP:0002113",
|
| 1357 |
+
"HP:0002202",
|
| 1358 |
+
"HP:0002315",
|
| 1359 |
+
"HP:0003073",
|
| 1360 |
+
"HP:0003259",
|
| 1361 |
+
"HP:0003546",
|
| 1362 |
+
"HP:0004315",
|
| 1363 |
+
"HP:0004930",
|
| 1364 |
+
"HP:0005421",
|
| 1365 |
+
"HP:0008940",
|
| 1366 |
+
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| 1367 |
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| 1368 |
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| 1369 |
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|
| 1370 |
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| 1371 |
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"HP:0045042",
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| 1372 |
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"HP:0100778"
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| 1373 |
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],
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[
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| 1376 |
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| 1377 |
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]
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],
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| 1381 |
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| 1382 |
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| 1383 |
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| 1384 |
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| 1386 |
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| 1387 |
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| 1388 |
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| 1389 |
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],
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[
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| 1393 |
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]
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],
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| 1400 |
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],
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| 1430 |
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| 1431 |
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| 1432 |
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]
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],
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| 1451 |
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],
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| 1455 |
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| 1456 |
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]
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],
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| 1460 |
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| 1461 |
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| 1462 |
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| 1463 |
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| 1478 |
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| 1479 |
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| 1480 |
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| 1481 |
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],
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| 1483 |
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| 1484 |
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| 1485 |
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]
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],
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| 1489 |
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| 1490 |
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| 1491 |
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| 1492 |
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| 1493 |
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| 1494 |
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| 1495 |
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| 1496 |
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| 1497 |
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| 1498 |
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| 1499 |
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| 1500 |
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"HP:0003216",
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| 1501 |
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| 1502 |
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| 1503 |
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| 1504 |
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| 1505 |
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| 1506 |
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"HP:0012378",
|
| 1507 |
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"HP:0012596",
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| 1508 |
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"HP:0012597",
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| 1509 |
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| 1510 |
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|
| 1511 |
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"HP:0100016",
|
| 1512 |
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|
| 1513 |
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],
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| 1514 |
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| 1515 |
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|
| 1516 |
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|
| 1517 |
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]
|
| 1518 |
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],
|
| 1519 |
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[
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| 1520 |
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[
|
| 1521 |
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| 1522 |
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| 1523 |
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|
| 1524 |
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| 1525 |
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| 1526 |
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| 1527 |
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| 1528 |
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|
| 1529 |
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|
| 1530 |
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|
| 1531 |
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],
|
| 1532 |
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[
|
| 1533 |
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|
| 1534 |
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|
| 1535 |
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"OMIM:249100",
|
| 1536 |
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"ORPHA:342"
|
| 1537 |
+
]
|
| 1538 |
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],
|
| 1539 |
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[
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| 1540 |
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[
|
| 1541 |
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|
| 1542 |
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| 1543 |
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|
| 1544 |
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| 1545 |
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| 1546 |
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| 1547 |
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| 1548 |
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| 1549 |
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| 1550 |
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|
| 1551 |
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| 1552 |
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| 1553 |
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| 1554 |
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|
| 1555 |
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| 1556 |
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| 1557 |
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|
| 1558 |
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|
| 1559 |
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|
| 1560 |
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|
| 1561 |
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|
| 1562 |
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|
| 1563 |
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|
| 1564 |
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|
| 1565 |
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|
| 1566 |
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|
| 1567 |
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| 1568 |
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| 1569 |
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| 1570 |
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| 1571 |
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| 1572 |
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| 1573 |
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| 1574 |
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| 1575 |
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| 1576 |
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| 1577 |
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| 1578 |
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|
| 1579 |
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| 1580 |
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|
| 1581 |
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|
| 1582 |
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|
| 1583 |
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|
| 1584 |
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|
| 1585 |
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|
| 1586 |
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|
| 1587 |
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|
| 1588 |
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|
| 1589 |
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|
| 1590 |
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"HP:0100785",
|
| 1591 |
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"HP:0410367"
|
| 1592 |
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],
|
| 1593 |
+
[
|
| 1594 |
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"ORPHA:81"
|
| 1595 |
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]
|
| 1596 |
+
],
|
| 1597 |
+
[
|
| 1598 |
+
[
|
| 1599 |
+
"HP:0000093",
|
| 1600 |
+
"HP:0000245",
|
| 1601 |
+
"HP:0000377",
|
| 1602 |
+
"HP:0000433",
|
| 1603 |
+
"HP:0000790",
|
| 1604 |
+
"HP:0001063",
|
| 1605 |
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"HP:0001785",
|
| 1606 |
+
"HP:0001903",
|
| 1607 |
+
"HP:0002910",
|
| 1608 |
+
"HP:0003259",
|
| 1609 |
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"HP:0011227",
|
| 1610 |
+
"HP:0012213",
|
| 1611 |
+
"HP:0032230"
|
| 1612 |
+
],
|
| 1613 |
+
[
|
| 1614 |
+
"OMIM:608710",
|
| 1615 |
+
"ORPHA:900"
|
| 1616 |
+
]
|
| 1617 |
+
],
|
| 1618 |
+
[
|
| 1619 |
+
[
|
| 1620 |
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"HP:0000155",
|
| 1621 |
+
"HP:0000217",
|
| 1622 |
+
"HP:0000360",
|
| 1623 |
+
"HP:0000365",
|
| 1624 |
+
"HP:0000520",
|
| 1625 |
+
"HP:0000572",
|
| 1626 |
+
"HP:0000633",
|
| 1627 |
+
"HP:0000651",
|
| 1628 |
+
"HP:0000787",
|
| 1629 |
+
"HP:0001167",
|
| 1630 |
+
"HP:0001269",
|
| 1631 |
+
"HP:0001288",
|
| 1632 |
+
"HP:0001369",
|
| 1633 |
+
"HP:0001653",
|
| 1634 |
+
"HP:0001947",
|
| 1635 |
+
"HP:0001974",
|
| 1636 |
+
"HP:0002076",
|
| 1637 |
+
"HP:0002321",
|
| 1638 |
+
"HP:0002829",
|
| 1639 |
+
"HP:0002875",
|
| 1640 |
+
"HP:0002925",
|
| 1641 |
+
"HP:0003474",
|
| 1642 |
+
"HP:0003537",
|
| 1643 |
+
"HP:0003546",
|
| 1644 |
+
"HP:0011935",
|
| 1645 |
+
"HP:0030833",
|
| 1646 |
+
"HP:0032154",
|
| 1647 |
+
"HP:0100512",
|
| 1648 |
+
"HP:0200037",
|
| 1649 |
+
"HP:0200039"
|
| 1650 |
+
],
|
| 1651 |
+
[
|
| 1652 |
+
"OMIM:106300",
|
| 1653 |
+
"OMIM:109650",
|
| 1654 |
+
"OMIM:183840",
|
| 1655 |
+
"ORPHA:117"
|
| 1656 |
+
]
|
| 1657 |
+
],
|
| 1658 |
+
[
|
| 1659 |
+
[
|
| 1660 |
+
"HP:0000246",
|
| 1661 |
+
"HP:0000822",
|
| 1662 |
+
"HP:0000958",
|
| 1663 |
+
"HP:0000980",
|
| 1664 |
+
"HP:0001894",
|
| 1665 |
+
"HP:0001903",
|
| 1666 |
+
"HP:0001920",
|
| 1667 |
+
"HP:0001945",
|
| 1668 |
+
"HP:0001974",
|
| 1669 |
+
"HP:0002013",
|
| 1670 |
+
"HP:0002027",
|
| 1671 |
+
"HP:0002094",
|
| 1672 |
+
"HP:0002754",
|
| 1673 |
+
"HP:0002910",
|
| 1674 |
+
"HP:0003138",
|
| 1675 |
+
"HP:0003237",
|
| 1676 |
+
"HP:0003259",
|
| 1677 |
+
"HP:0003418",
|
| 1678 |
+
"HP:0003493",
|
| 1679 |
+
"HP:0003546",
|
| 1680 |
+
"HP:0003565",
|
| 1681 |
+
"HP:0004396",
|
| 1682 |
+
"HP:0011097",
|
| 1683 |
+
"HP:0011227",
|
| 1684 |
+
"HP:0030157",
|
| 1685 |
+
"HP:0030948",
|
| 1686 |
+
"HP:0031030",
|
| 1687 |
+
"HP:0032483",
|
| 1688 |
+
"HP:0100016",
|
| 1689 |
+
"HP:0200034",
|
| 1690 |
+
"HP:0410019"
|
| 1691 |
+
],
|
| 1692 |
+
[
|
| 1693 |
+
"OMIM:207600",
|
| 1694 |
+
"ORPHA:3287"
|
| 1695 |
+
]
|
| 1696 |
+
],
|
| 1697 |
+
[
|
| 1698 |
+
[
|
| 1699 |
+
"HP:0001397",
|
| 1700 |
+
"HP:0002385",
|
| 1701 |
+
"HP:0002817",
|
| 1702 |
+
"HP:0002910",
|
| 1703 |
+
"HP:0003115",
|
| 1704 |
+
"HP:0003236",
|
| 1705 |
+
"HP:0003259",
|
| 1706 |
+
"HP:0003326",
|
| 1707 |
+
"HP:0003493",
|
| 1708 |
+
"HP:0005110",
|
| 1709 |
+
"HP:0005145",
|
| 1710 |
+
"HP:0008978",
|
| 1711 |
+
"HP:0011713",
|
| 1712 |
+
"HP:0012213",
|
| 1713 |
+
"HP:0012596",
|
| 1714 |
+
"HP:0012597",
|
| 1715 |
+
"HP:0030167",
|
| 1716 |
+
"HP:0030948",
|
| 1717 |
+
"HP:0031185",
|
| 1718 |
+
"HP:0100545"
|
| 1719 |
+
],
|
| 1720 |
+
[
|
| 1721 |
+
"ORPHA:171",
|
| 1722 |
+
"ORPHA:732"
|
| 1723 |
+
]
|
| 1724 |
+
],
|
| 1725 |
+
[
|
| 1726 |
+
[
|
| 1727 |
+
"HP:0000364",
|
| 1728 |
+
"HP:0000572",
|
| 1729 |
+
"HP:0000822",
|
| 1730 |
+
"HP:0000975",
|
| 1731 |
+
"HP:0001288",
|
| 1732 |
+
"HP:0001397",
|
| 1733 |
+
"HP:0001575",
|
| 1734 |
+
"HP:0001659",
|
| 1735 |
+
"HP:0001744",
|
| 1736 |
+
"HP:0002014",
|
| 1737 |
+
"HP:0002018",
|
| 1738 |
+
"HP:0002019",
|
| 1739 |
+
"HP:0002046",
|
| 1740 |
+
"HP:0002242",
|
| 1741 |
+
"HP:0002315",
|
| 1742 |
+
"HP:0002321",
|
| 1743 |
+
"HP:0002814",
|
| 1744 |
+
"HP:0002829",
|
| 1745 |
+
"HP:0002875",
|
| 1746 |
+
"HP:0002910",
|
| 1747 |
+
"HP:0003115",
|
| 1748 |
+
"HP:0003141",
|
| 1749 |
+
"HP:0003236",
|
| 1750 |
+
"HP:0003270",
|
| 1751 |
+
"HP:0003281",
|
| 1752 |
+
"HP:0003418",
|
| 1753 |
+
"HP:0003474",
|
| 1754 |
+
"HP:0003546",
|
| 1755 |
+
"HP:0004386",
|
| 1756 |
+
"HP:0004756",
|
| 1757 |
+
"HP:0005263",
|
| 1758 |
+
"HP:0006682",
|
| 1759 |
+
"HP:0011227",
|
| 1760 |
+
"HP:0011712",
|
| 1761 |
+
"HP:0011911",
|
| 1762 |
+
"HP:0012185",
|
| 1763 |
+
"HP:0012317",
|
| 1764 |
+
"HP:0012513",
|
| 1765 |
+
"HP:0012514",
|
| 1766 |
+
"HP:0012534",
|
| 1767 |
+
"HP:0025269",
|
| 1768 |
+
"HP:0030833",
|
| 1769 |
+
"HP:0030838",
|
| 1770 |
+
"HP:0031520",
|
| 1771 |
+
"HP:0031588",
|
| 1772 |
+
"HP:0100512",
|
| 1773 |
+
"HP:0100749",
|
| 1774 |
+
"HP:0100785"
|
| 1775 |
+
],
|
| 1776 |
+
[
|
| 1777 |
+
"OMIM:106300",
|
| 1778 |
+
"OMIM:183840"
|
| 1779 |
+
]
|
| 1780 |
+
],
|
| 1781 |
+
[
|
| 1782 |
+
[
|
| 1783 |
+
"HP:0000853",
|
| 1784 |
+
"HP:0001081",
|
| 1785 |
+
"HP:0001369",
|
| 1786 |
+
"HP:0001600",
|
| 1787 |
+
"HP:0001679",
|
| 1788 |
+
"HP:0001894",
|
| 1789 |
+
"HP:0001903",
|
| 1790 |
+
"HP:0001945",
|
| 1791 |
+
"HP:0001974",
|
| 1792 |
+
"HP:0002240",
|
| 1793 |
+
"HP:0002242",
|
| 1794 |
+
"HP:0002829",
|
| 1795 |
+
"HP:0002910",
|
| 1796 |
+
"HP:0003072",
|
| 1797 |
+
"HP:0003155",
|
| 1798 |
+
"HP:0003326",
|
| 1799 |
+
"HP:0003546",
|
| 1800 |
+
"HP:0005413",
|
| 1801 |
+
"HP:0011227",
|
| 1802 |
+
"HP:0025022",
|
| 1803 |
+
"HP:0025289",
|
| 1804 |
+
"HP:0030166",
|
| 1805 |
+
"HP:0030839",
|
| 1806 |
+
"HP:0030948"
|
| 1807 |
+
],
|
| 1808 |
+
[
|
| 1809 |
+
"OMIM:120100",
|
| 1810 |
+
"OMIM:191900",
|
| 1811 |
+
"OMIM:607115",
|
| 1812 |
+
"OMIM:611762",
|
| 1813 |
+
"OMIM:614468",
|
| 1814 |
+
"OMIM:616115",
|
| 1815 |
+
"ORPHA:1451",
|
| 1816 |
+
"ORPHA:47045",
|
| 1817 |
+
"ORPHA:575"
|
| 1818 |
+
]
|
| 1819 |
+
],
|
| 1820 |
+
[
|
| 1821 |
+
[
|
| 1822 |
+
"HP:0000083",
|
| 1823 |
+
"HP:0000089",
|
| 1824 |
+
"HP:0000097",
|
| 1825 |
+
"HP:0000821",
|
| 1826 |
+
"HP:0001903",
|
| 1827 |
+
"HP:0002014",
|
| 1828 |
+
"HP:0002153",
|
| 1829 |
+
"HP:0003073",
|
| 1830 |
+
"HP:0003138",
|
| 1831 |
+
"HP:0003165",
|
| 1832 |
+
"HP:0003259",
|
| 1833 |
+
"HP:0012213",
|
| 1834 |
+
"HP:0012595",
|
| 1835 |
+
"HP:0100512",
|
| 1836 |
+
"HP:0200034"
|
| 1837 |
+
],
|
| 1838 |
+
[
|
| 1839 |
+
"CCRD:27",
|
| 1840 |
+
"OMIM:301500",
|
| 1841 |
+
"ORPHA:324"
|
| 1842 |
+
]
|
| 1843 |
+
],
|
| 1844 |
+
[
|
| 1845 |
+
[
|
| 1846 |
+
"HP:0000736",
|
| 1847 |
+
"HP:0001873",
|
| 1848 |
+
"HP:0001981",
|
| 1849 |
+
"HP:0002172",
|
| 1850 |
+
"HP:0002321",
|
| 1851 |
+
"HP:0002910",
|
| 1852 |
+
"HP:0003138",
|
| 1853 |
+
"HP:0003259",
|
| 1854 |
+
"HP:0003546",
|
| 1855 |
+
"HP:0007185",
|
| 1856 |
+
"HP:0008330",
|
| 1857 |
+
"HP:0012213",
|
| 1858 |
+
"HP:0020181",
|
| 1859 |
+
"HP:0025435",
|
| 1860 |
+
"HP:0032308",
|
| 1861 |
+
"HP:0100661"
|
| 1862 |
+
],
|
| 1863 |
+
[
|
| 1864 |
+
"OMIM:274150",
|
| 1865 |
+
"ORPHA:54057"
|
| 1866 |
+
]
|
| 1867 |
+
],
|
| 1868 |
+
[
|
| 1869 |
+
[
|
| 1870 |
+
"HP:0000869",
|
| 1871 |
+
"HP:0001629",
|
| 1872 |
+
"HP:0001659",
|
| 1873 |
+
"HP:0001744",
|
| 1874 |
+
"HP:0001824",
|
| 1875 |
+
"HP:0001894",
|
| 1876 |
+
"HP:0001935",
|
| 1877 |
+
"HP:0001945",
|
| 1878 |
+
"HP:0001970",
|
| 1879 |
+
"HP:0002094",
|
| 1880 |
+
"HP:0002829",
|
| 1881 |
+
"HP:0003138",
|
| 1882 |
+
"HP:0003546",
|
| 1883 |
+
"HP:0003565",
|
| 1884 |
+
"HP:0005259",
|
| 1885 |
+
"HP:0011712",
|
| 1886 |
+
"HP:0012122",
|
| 1887 |
+
"HP:0012213",
|
| 1888 |
+
"HP:0012513",
|
| 1889 |
+
"HP:0012595",
|
| 1890 |
+
"HP:0012735",
|
| 1891 |
+
"HP:0030157",
|
| 1892 |
+
"HP:0030833",
|
| 1893 |
+
"HP:0031664",
|
| 1894 |
+
"HP:0100515",
|
| 1895 |
+
"HP:0100584"
|
| 1896 |
+
],
|
| 1897 |
+
[
|
| 1898 |
+
"OMIM:607665"
|
| 1899 |
+
]
|
| 1900 |
+
],
|
| 1901 |
+
[
|
| 1902 |
+
[
|
| 1903 |
+
"HP:0000545",
|
| 1904 |
+
"HP:0000651",
|
| 1905 |
+
"HP:0000958",
|
| 1906 |
+
"HP:0001155",
|
| 1907 |
+
"HP:0001265",
|
| 1908 |
+
"HP:0001760",
|
| 1909 |
+
"HP:0001875",
|
| 1910 |
+
"HP:0002570",
|
| 1911 |
+
"HP:0002781",
|
| 1912 |
+
"HP:0002829",
|
| 1913 |
+
"HP:0002883",
|
| 1914 |
+
"HP:0003236",
|
| 1915 |
+
"HP:0006536",
|
| 1916 |
+
"HP:0007210",
|
| 1917 |
+
"HP:0012513",
|
| 1918 |
+
"HP:0012534",
|
| 1919 |
+
"HP:0025238",
|
| 1920 |
+
"HP:0040126",
|
| 1921 |
+
"HP:0100827",
|
| 1922 |
+
"HP:0410281"
|
| 1923 |
+
],
|
| 1924 |
+
[
|
| 1925 |
+
"OMIM:133020",
|
| 1926 |
+
"ORPHA:90026"
|
| 1927 |
+
]
|
| 1928 |
+
],
|
| 1929 |
+
[
|
| 1930 |
+
[
|
| 1931 |
+
"HP:0000093",
|
| 1932 |
+
"HP:0000142",
|
| 1933 |
+
"HP:0000164",
|
| 1934 |
+
"HP:0000246",
|
| 1935 |
+
"HP:0000433",
|
| 1936 |
+
"HP:0000713",
|
| 1937 |
+
"HP:0000822",
|
| 1938 |
+
"HP:0001041",
|
| 1939 |
+
"HP:0001288",
|
| 1940 |
+
"HP:0001384",
|
| 1941 |
+
"HP:0001596",
|
| 1942 |
+
"HP:0001600",
|
| 1943 |
+
"HP:0001785",
|
| 1944 |
+
"HP:0001945",
|
| 1945 |
+
"HP:0001959",
|
| 1946 |
+
"HP:0001962",
|
| 1947 |
+
"HP:0002019",
|
| 1948 |
+
"HP:0002020",
|
| 1949 |
+
"HP:0002027",
|
| 1950 |
+
"HP:0002315",
|
| 1951 |
+
"HP:0002321",
|
| 1952 |
+
"HP:0002829",
|
| 1953 |
+
"HP:0002875",
|
| 1954 |
+
"HP:0002923",
|
| 1955 |
+
"HP:0003419",
|
| 1956 |
+
"HP:0003474",
|
| 1957 |
+
"HP:0003493",
|
| 1958 |
+
"HP:0005197",
|
| 1959 |
+
"HP:0006253",
|
| 1960 |
+
"HP:0006256",
|
| 1961 |
+
"HP:0007042",
|
| 1962 |
+
"HP:0010741",
|
| 1963 |
+
"HP:0011911",
|
| 1964 |
+
"HP:0012085",
|
| 1965 |
+
"HP:0012213",
|
| 1966 |
+
"HP:0012219",
|
| 1967 |
+
"HP:0012378",
|
| 1968 |
+
"HP:0012479",
|
| 1969 |
+
"HP:0012514",
|
| 1970 |
+
"HP:0012534",
|
| 1971 |
+
"HP:0030157",
|
| 1972 |
+
"HP:0030166",
|
| 1973 |
+
"HP:0030269",
|
| 1974 |
+
"HP:0030837",
|
| 1975 |
+
"HP:0030838",
|
| 1976 |
+
"HP:0030899",
|
| 1977 |
+
"HP:0031284",
|
| 1978 |
+
"HP:0031352",
|
| 1979 |
+
"HP:0031520",
|
| 1980 |
+
"HP:0040264",
|
| 1981 |
+
"HP:0100515",
|
| 1982 |
+
"HP:0100540",
|
| 1983 |
+
"HP:0100749",
|
| 1984 |
+
"HP:0410019"
|
| 1985 |
+
],
|
| 1986 |
+
[
|
| 1987 |
+
"CCRD:112",
|
| 1988 |
+
"OMIM:181750",
|
| 1989 |
+
"ORPHA:220393",
|
| 1990 |
+
"ORPHA:220402",
|
| 1991 |
+
"ORPHA:732",
|
| 1992 |
+
"ORPHA:801",
|
| 1993 |
+
"ORPHA:90289",
|
| 1994 |
+
"ORPHA:90290",
|
| 1995 |
+
"ORPHA:90291"
|
| 1996 |
+
]
|
| 1997 |
+
],
|
| 1998 |
+
[
|
| 1999 |
+
[
|
| 2000 |
+
"HP:0000217",
|
| 2001 |
+
"HP:0000505",
|
| 2002 |
+
"HP:0001824",
|
| 2003 |
+
"HP:0001945",
|
| 2004 |
+
"HP:0002907",
|
| 2005 |
+
"HP:0002910",
|
| 2006 |
+
"HP:0003418",
|
| 2007 |
+
"HP:0003546",
|
| 2008 |
+
"HP:0003565",
|
| 2009 |
+
"HP:0004396",
|
| 2010 |
+
"HP:0010783",
|
| 2011 |
+
"HP:0011227",
|
| 2012 |
+
"HP:0011801",
|
| 2013 |
+
"HP:0012122",
|
| 2014 |
+
"HP:0012577",
|
| 2015 |
+
"HP:0012595",
|
| 2016 |
+
"HP:0025289",
|
| 2017 |
+
"HP:0030166",
|
| 2018 |
+
"HP:0200026"
|
| 2019 |
+
],
|
| 2020 |
+
[
|
| 2021 |
+
"OMIM:181000",
|
| 2022 |
+
"OMIM:612387",
|
| 2023 |
+
"ORPHA:797"
|
| 2024 |
+
]
|
| 2025 |
+
],
|
| 2026 |
+
[
|
| 2027 |
+
[
|
| 2028 |
+
"HP:0000155",
|
| 2029 |
+
"HP:0002315",
|
| 2030 |
+
"HP:0002354",
|
| 2031 |
+
"HP:0002754",
|
| 2032 |
+
"HP:0002758",
|
| 2033 |
+
"HP:0002808",
|
| 2034 |
+
"HP:0002870",
|
| 2035 |
+
"HP:0003028",
|
| 2036 |
+
"HP:0003418",
|
| 2037 |
+
"HP:0008419",
|
| 2038 |
+
"HP:0030840",
|
| 2039 |
+
"HP:0032154",
|
| 2040 |
+
"HP:0200039"
|
| 2041 |
+
],
|
| 2042 |
+
[
|
| 2043 |
+
"ORPHA:793"
|
| 2044 |
+
]
|
| 2045 |
+
],
|
| 2046 |
+
[
|
| 2047 |
+
[
|
| 2048 |
+
"HP:0000098",
|
| 2049 |
+
"HP:0000107",
|
| 2050 |
+
"HP:0000138",
|
| 2051 |
+
"HP:0000501",
|
| 2052 |
+
"HP:0000545",
|
| 2053 |
+
"HP:0001167",
|
| 2054 |
+
"HP:0001761",
|
| 2055 |
+
"HP:0001824",
|
| 2056 |
+
"HP:0002615",
|
| 2057 |
+
"HP:0002619",
|
| 2058 |
+
"HP:0002763",
|
| 2059 |
+
"HP:0002829",
|
| 2060 |
+
"HP:0002857",
|
| 2061 |
+
"HP:0002875",
|
| 2062 |
+
"HP:0002907",
|
| 2063 |
+
"HP:0004386",
|
| 2064 |
+
"HP:0005086",
|
| 2065 |
+
"HP:0005108",
|
| 2066 |
+
"HP:0005263",
|
| 2067 |
+
"HP:0007663",
|
| 2068 |
+
"HP:0010741",
|
| 2069 |
+
"HP:0030835",
|
| 2070 |
+
"HP:0030838",
|
| 2071 |
+
"HP:0030839",
|
| 2072 |
+
"HP:0031520",
|
| 2073 |
+
"HP:0032191"
|
| 2074 |
+
],
|
| 2075 |
+
[
|
| 2076 |
+
"OMIM:108300",
|
| 2077 |
+
"OMIM:184840",
|
| 2078 |
+
"OMIM:604841",
|
| 2079 |
+
"OMIM:614134",
|
| 2080 |
+
"OMIM:614284",
|
| 2081 |
+
"ORPHA:166100",
|
| 2082 |
+
"ORPHA:250984",
|
| 2083 |
+
"ORPHA:828",
|
| 2084 |
+
"ORPHA:90653",
|
| 2085 |
+
"ORPHA:90654"
|
| 2086 |
+
]
|
| 2087 |
+
],
|
| 2088 |
+
[
|
| 2089 |
+
[
|
| 2090 |
+
"HP:0000083",
|
| 2091 |
+
"HP:0000100",
|
| 2092 |
+
"HP:0001698",
|
| 2093 |
+
"HP:0001701",
|
| 2094 |
+
"HP:0001903",
|
| 2095 |
+
"HP:0003259",
|
| 2096 |
+
"HP:0003493",
|
| 2097 |
+
"HP:0003546",
|
| 2098 |
+
"HP:0004431",
|
| 2099 |
+
"HP:0012378",
|
| 2100 |
+
"HP:0012596",
|
| 2101 |
+
"HP:0012597"
|
| 2102 |
+
],
|
| 2103 |
+
[
|
| 2104 |
+
"OMIM:152700",
|
| 2105 |
+
"OMIM:606579",
|
| 2106 |
+
"OMIM:609939",
|
| 2107 |
+
"OMIM:614420",
|
| 2108 |
+
"ORPHA:93552"
|
| 2109 |
+
]
|
| 2110 |
+
],
|
| 2111 |
+
[
|
| 2112 |
+
[
|
| 2113 |
+
"HP:0000142",
|
| 2114 |
+
"HP:0000155",
|
| 2115 |
+
"HP:0000217",
|
| 2116 |
+
"HP:0001097",
|
| 2117 |
+
"HP:0001167",
|
| 2118 |
+
"HP:0002014",
|
| 2119 |
+
"HP:0002027",
|
| 2120 |
+
"HP:0002240",
|
| 2121 |
+
"HP:0002315",
|
| 2122 |
+
"HP:0002814",
|
| 2123 |
+
"HP:0002829",
|
| 2124 |
+
"HP:0002896",
|
| 2125 |
+
"HP:0003124",
|
| 2126 |
+
"HP:0003282",
|
| 2127 |
+
"HP:0003474",
|
| 2128 |
+
"HP:0003546",
|
| 2129 |
+
"HP:0004326",
|
| 2130 |
+
"HP:0005263",
|
| 2131 |
+
"HP:0007042",
|
| 2132 |
+
"HP:0010784",
|
| 2133 |
+
"HP:0010876",
|
| 2134 |
+
"HP:0012514",
|
| 2135 |
+
"HP:0012534",
|
| 2136 |
+
"HP:0030057",
|
| 2137 |
+
"HP:0030140",
|
| 2138 |
+
"HP:0030166",
|
| 2139 |
+
"HP:0032483",
|
| 2140 |
+
"HP:0100633",
|
| 2141 |
+
"HP:0100643"
|
| 2142 |
+
],
|
| 2143 |
+
[
|
| 2144 |
+
"OMIM:270150"
|
| 2145 |
+
]
|
| 2146 |
+
],
|
| 2147 |
+
[
|
| 2148 |
+
[
|
| 2149 |
+
"HP:0000821",
|
| 2150 |
+
"HP:0001744",
|
| 2151 |
+
"HP:0001888",
|
| 2152 |
+
"HP:0001935",
|
| 2153 |
+
"HP:0001945",
|
| 2154 |
+
"HP:0002018",
|
| 2155 |
+
"HP:0002094",
|
| 2156 |
+
"HP:0002102",
|
| 2157 |
+
"HP:0002202",
|
| 2158 |
+
"HP:0002901",
|
| 2159 |
+
"HP:0004396",
|
| 2160 |
+
"HP:0010931",
|
| 2161 |
+
"HP:0011227",
|
| 2162 |
+
"HP:0011703",
|
| 2163 |
+
"HP:0012378",
|
| 2164 |
+
"HP:0025143",
|
| 2165 |
+
"HP:0025435",
|
| 2166 |
+
"HP:0030160",
|
| 2167 |
+
"HP:0100749"
|
| 2168 |
+
],
|
| 2169 |
+
[
|
| 2170 |
+
"CCRD:28",
|
| 2171 |
+
"OMIM:134610",
|
| 2172 |
+
"OMIM:249100",
|
| 2173 |
+
"ORPHA:342"
|
| 2174 |
+
]
|
| 2175 |
+
],
|
| 2176 |
+
[
|
| 2177 |
+
[
|
| 2178 |
+
"HP:0000365",
|
| 2179 |
+
"HP:0001288",
|
| 2180 |
+
"HP:0001397",
|
| 2181 |
+
"HP:0001407",
|
| 2182 |
+
"HP:0001698",
|
| 2183 |
+
"HP:0001744",
|
| 2184 |
+
"HP:0002088",
|
| 2185 |
+
"HP:0002240",
|
| 2186 |
+
"HP:0002385",
|
| 2187 |
+
"HP:0003474",
|
| 2188 |
+
"HP:0012384",
|
| 2189 |
+
"HP:0012514",
|
| 2190 |
+
"HP:0030423",
|
| 2191 |
+
"HP:0032230",
|
| 2192 |
+
"HP:0100785"
|
| 2193 |
+
],
|
| 2194 |
+
[
|
| 2195 |
+
"OMIM:608710",
|
| 2196 |
+
"ORPHA:900"
|
| 2197 |
+
]
|
| 2198 |
+
],
|
| 2199 |
+
[
|
| 2200 |
+
[
|
| 2201 |
+
"HP:0000107",
|
| 2202 |
+
"HP:0000121",
|
| 2203 |
+
"HP:0001288",
|
| 2204 |
+
"HP:0001369",
|
| 2205 |
+
"HP:0001744",
|
| 2206 |
+
"HP:0001875",
|
| 2207 |
+
"HP:0001882",
|
| 2208 |
+
"HP:0001913",
|
| 2209 |
+
"HP:0001935",
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| 2299 |
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| 2300 |
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|
| 2303 |
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|
| 2304 |
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| 2307 |
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| 2308 |
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| 2311 |
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| 2315 |
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| 2318 |
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| 2322 |
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|
| 2334 |
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| 2335 |
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| 2340 |
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| 2341 |
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| 2342 |
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| 2346 |
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| 2347 |
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| 2348 |
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| 2349 |
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| 2351 |
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| 2352 |
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| 2353 |
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| 2354 |
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| 2355 |
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|
| 2356 |
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[
|
| 2357 |
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|
| 2358 |
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]
|
| 2359 |
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|
| 2360 |
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|
| 2361 |
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|
| 2362 |
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|
| 2363 |
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| 2364 |
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| 2365 |
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| 2366 |
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| 2367 |
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| 2368 |
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| 2369 |
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|
| 2370 |
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|
| 2371 |
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| 2372 |
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| 2373 |
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|
| 2374 |
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|
| 2375 |
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|
| 2376 |
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| 2379 |
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| 2380 |
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| 2382 |
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| 2383 |
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| 2384 |
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| 2385 |
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| 2386 |
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| 2387 |
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| 2388 |
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| 2389 |
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| 2391 |
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| 2392 |
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| 2393 |
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| 2394 |
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|
| 2395 |
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| 2396 |
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|
| 2397 |
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| 2398 |
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|
| 2399 |
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|
| 2400 |
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|
| 2401 |
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|
| 2402 |
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| 2403 |
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|
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|
| 2405 |
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| 2406 |
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| 2407 |
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| 2408 |
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|
| 2409 |
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|
| 2410 |
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|
| 2411 |
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|
| 2412 |
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|
| 2413 |
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|
| 2414 |
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| 2415 |
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| 2416 |
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|
| 2417 |
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|
| 2418 |
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| 2419 |
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|
| 2420 |
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|
| 2421 |
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|
| 2422 |
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|
| 2423 |
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|
| 2424 |
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|
| 2425 |
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|
| 2426 |
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|
| 2427 |
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[
|
| 2428 |
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|
| 2429 |
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|
| 2430 |
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|
| 2431 |
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|
| 2432 |
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|
| 2433 |
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|
| 2434 |
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|
| 2435 |
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|
| 2436 |
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|
| 2437 |
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|
| 2438 |
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|
| 2439 |
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|
| 2440 |
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|
| 2441 |
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|
| 2442 |
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| 2443 |
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|
| 2444 |
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|
| 2445 |
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| 2446 |
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| 2447 |
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|
| 2448 |
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|
| 2449 |
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|
| 2450 |
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| 2451 |
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|
| 2452 |
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|
| 2453 |
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|
| 2454 |
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|
| 2455 |
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|
| 2456 |
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|
| 2457 |
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| 2458 |
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|
| 2459 |
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|
| 2460 |
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|
| 2461 |
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|
| 2462 |
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|
| 2463 |
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|
| 2464 |
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|
| 2465 |
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|
| 2466 |
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|
| 2467 |
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|
| 2468 |
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|
| 2469 |
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|
| 2470 |
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|
| 2471 |
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|
| 2472 |
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|
| 2473 |
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],
|
| 2474 |
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[
|
| 2475 |
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|
| 2476 |
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]
|
| 2477 |
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],
|
| 2478 |
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[
|
| 2479 |
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[
|
| 2480 |
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|
| 2481 |
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|
| 2482 |
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|
| 2483 |
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|
| 2484 |
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|
| 2485 |
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|
| 2486 |
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|
| 2487 |
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|
| 2488 |
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],
|
| 2489 |
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[
|
| 2490 |
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|
| 2491 |
+
]
|
| 2492 |
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]
|
| 2493 |
+
]
|
RDpatient_data/Public/LIRICAL.json
ADDED
|
The diff for this file is too large to render.
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|
|
|
RDpatient_data/Public/MME.json
ADDED
|
@@ -0,0 +1,797 @@
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| 1 |
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[
|
| 2 |
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[
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| 3 |
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[
|
| 4 |
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"HP:0000272",
|
| 5 |
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| 17 |
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| 18 |
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| 19 |
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| 20 |
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| 21 |
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| 22 |
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| 23 |
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| 24 |
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| 25 |
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|
| 26 |
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| 27 |
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|
| 28 |
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| 30 |
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| 32 |
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| 90 |
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| 97 |
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| 159 |
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|
| 160 |
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| 168 |
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| 171 |
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| 173 |
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| 174 |
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| 176 |
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| 178 |
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| 180 |
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| 181 |
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| 182 |
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| 183 |
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| 184 |
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| 185 |
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| 186 |
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| 187 |
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| 188 |
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| 189 |
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| 190 |
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| 191 |
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| 192 |
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| 193 |
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|
| 194 |
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|
| 195 |
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|
| 196 |
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|
| 197 |
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|
| 198 |
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| 199 |
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| 202 |
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|
| 203 |
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|
| 204 |
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|
| 205 |
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|
| 206 |
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| 662 |
+
"HP:0011220"
|
| 663 |
+
],
|
| 664 |
+
[
|
| 665 |
+
"OMIM:182212",
|
| 666 |
+
"ORPHA:2462"
|
| 667 |
+
]
|
| 668 |
+
],
|
| 669 |
+
[
|
| 670 |
+
[
|
| 671 |
+
"HP:0000218",
|
| 672 |
+
"HP:0000286",
|
| 673 |
+
"HP:0000316",
|
| 674 |
+
"HP:0000322",
|
| 675 |
+
"HP:0000348",
|
| 676 |
+
"HP:0000463",
|
| 677 |
+
"HP:0000954",
|
| 678 |
+
"HP:0001252",
|
| 679 |
+
"HP:0001263",
|
| 680 |
+
"HP:0001344",
|
| 681 |
+
"HP:0002007",
|
| 682 |
+
"HP:0002079",
|
| 683 |
+
"HP:0002282",
|
| 684 |
+
"HP:0002912",
|
| 685 |
+
"HP:0003196",
|
| 686 |
+
"HP:0006956",
|
| 687 |
+
"HP:0007793",
|
| 688 |
+
"HP:0008070",
|
| 689 |
+
"HP:0010055",
|
| 690 |
+
"HP:0010804",
|
| 691 |
+
"HP:0012120",
|
| 692 |
+
"HP:0012448",
|
| 693 |
+
"HP:0040155",
|
| 694 |
+
"HP:0045034"
|
| 695 |
+
],
|
| 696 |
+
[
|
| 697 |
+
"OMIM:614105"
|
| 698 |
+
]
|
| 699 |
+
],
|
| 700 |
+
[
|
| 701 |
+
[
|
| 702 |
+
"HP:0000325",
|
| 703 |
+
"HP:0000430",
|
| 704 |
+
"HP:0000490",
|
| 705 |
+
"HP:0000558",
|
| 706 |
+
"HP:0000684",
|
| 707 |
+
"HP:0004322",
|
| 708 |
+
"HP:0007495",
|
| 709 |
+
"HP:0009125"
|
| 710 |
+
],
|
| 711 |
+
[
|
| 712 |
+
"OMIM:269880",
|
| 713 |
+
"ORPHA:3163"
|
| 714 |
+
]
|
| 715 |
+
],
|
| 716 |
+
[
|
| 717 |
+
[
|
| 718 |
+
"HP:0000085",
|
| 719 |
+
"HP:0000179",
|
| 720 |
+
"HP:0000215",
|
| 721 |
+
"HP:0000252",
|
| 722 |
+
"HP:0000348",
|
| 723 |
+
"HP:0000490",
|
| 724 |
+
"HP:0000545",
|
| 725 |
+
"HP:0000582",
|
| 726 |
+
"HP:0000670",
|
| 727 |
+
"HP:0000689",
|
| 728 |
+
"HP:0001643",
|
| 729 |
+
"HP:0002342",
|
| 730 |
+
"HP:0003189",
|
| 731 |
+
"HP:0009765",
|
| 732 |
+
"HP:0009890",
|
| 733 |
+
"HP:0012745"
|
| 734 |
+
],
|
| 735 |
+
[
|
| 736 |
+
"OMIM:613680"
|
| 737 |
+
]
|
| 738 |
+
],
|
| 739 |
+
[
|
| 740 |
+
[
|
| 741 |
+
"HP:0000010",
|
| 742 |
+
"HP:0000230",
|
| 743 |
+
"HP:0000403",
|
| 744 |
+
"HP:0001744",
|
| 745 |
+
"HP:0001875",
|
| 746 |
+
"HP:0001888",
|
| 747 |
+
"HP:0004854",
|
| 748 |
+
"HP:0004866",
|
| 749 |
+
"HP:0005401",
|
| 750 |
+
"HP:0012138"
|
| 751 |
+
],
|
| 752 |
+
[
|
| 753 |
+
"OMIM:612541",
|
| 754 |
+
"CCRD:104"
|
| 755 |
+
]
|
| 756 |
+
],
|
| 757 |
+
[
|
| 758 |
+
[
|
| 759 |
+
"HP:0001539",
|
| 760 |
+
"HP:0005214",
|
| 761 |
+
"HP:0011100"
|
| 762 |
+
],
|
| 763 |
+
[
|
| 764 |
+
"OMIM:243150",
|
| 765 |
+
"ORPHA:436252"
|
| 766 |
+
]
|
| 767 |
+
],
|
| 768 |
+
[
|
| 769 |
+
[
|
| 770 |
+
"HP:0000252",
|
| 771 |
+
"HP:0000486",
|
| 772 |
+
"HP:0000522",
|
| 773 |
+
"HP:0000657",
|
| 774 |
+
"HP:0001252",
|
| 775 |
+
"HP:0001263",
|
| 776 |
+
"HP:0001395",
|
| 777 |
+
"HP:0001773",
|
| 778 |
+
"HP:0002019",
|
| 779 |
+
"HP:0002059",
|
| 780 |
+
"HP:0002079",
|
| 781 |
+
"HP:0002151",
|
| 782 |
+
"HP:0002353",
|
| 783 |
+
"HP:0002472",
|
| 784 |
+
"HP:0002910",
|
| 785 |
+
"HP:0006579",
|
| 786 |
+
"HP:0006958",
|
| 787 |
+
"HP:0010605",
|
| 788 |
+
"HP:0030303",
|
| 789 |
+
"HP:0100022",
|
| 790 |
+
"HP:0200055"
|
| 791 |
+
],
|
| 792 |
+
[
|
| 793 |
+
"OMIM:615273",
|
| 794 |
+
"ORPHA:404454"
|
| 795 |
+
]
|
| 796 |
+
]
|
| 797 |
+
]
|
RDpatient_data/Public/RAMEDIS.json
ADDED
|
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|
|
|