chenxz commited on
Commit
97b8e62
·
1 Parent(s): 9073ab0

jsonl test

Browse files
RDpatient_data/PUMCH/PUMCH_ADM.jsonl ADDED
@@ -0,0 +1,2 @@
 
 
 
1
+ {"Phenotype": ["HP:0000722", "HP:0000750", "HP:0001319", "HP:0001350", "HP:0001530", "HP:0001558", "HP:0001612", "HP:0002033", "HP:0002577", "HP:0004324", "HP:0011951", "HP:0030748", "HP:0040217"], "RareDisease": ["CCRD:93", "OMIM:176270", "ORPHA:739"]}
2
+ {"Phenotype": ["HP:0000028", "HP:0000670", "HP:0001262", "HP:0001618", "HP:0008947", "HP:0011968", "HP:0012420"], "RareDisease": ["CCRD:93", "OMIM:176270", "ORPHA:739"]}
RDpatient_data/Public/HMS.json DELETED
@@ -1,2493 +0,0 @@
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",
70
- "HP:0030140",
71
- "HP:0030833",
72
- "HP:0030836",
73
- "HP:0030840",
74
- "HP:0032154",
75
- "HP:0100749",
76
- "HP:0100827",
77
- "HP:0200034",
78
- "HP:0200039",
79
- "HP:0410019"
80
- ],
81
- [
82
- "OMIM:109650",
83
- "ORPHA:117"
84
- ]
85
- ],
86
- [
87
- [
88
- "HP:0000421",
89
- "HP:0002105",
90
- "HP:0002113",
91
- "HP:0002829",
92
- "HP:0002907",
93
- "HP:0011227",
94
- "HP:0012213",
95
- "HP:0032230"
96
- ],
97
- [
98
- "OMIM:608710",
99
- "ORPHA:900"
100
- ]
101
- ],
102
- [
103
- [
104
- "HP:0000093",
105
- "HP:0001541",
106
- "HP:0001735",
107
- "HP:0001744",
108
- "HP:0001876",
109
- "HP:0001945",
110
- "HP:0002014",
111
- "HP:0002027",
112
- "HP:0002586",
113
- "HP:0002829",
114
- "HP:0003236",
115
- "HP:0003324",
116
- "HP:0003326",
117
- "HP:0003493",
118
- "HP:0003546",
119
- "HP:0011106",
120
- "HP:0012378",
121
- "HP:0025435",
122
- "HP:0030010",
123
- "HP:0410019"
124
- ],
125
- [
126
- "OMIM:152700",
127
- "OMIM:606579",
128
- "OMIM:609939",
129
- "OMIM:614420",
130
- "ORPHA:93552"
131
- ]
132
- ],
133
- [
134
- [
135
- "HP:0000083",
136
- "HP:0000093",
137
- "HP:0000099",
138
- "HP:0000107",
139
- "HP:0000554",
140
- "HP:0001369",
141
- "HP:0001888",
142
- "HP:0002204",
143
- "HP:0002625",
144
- "HP:0002907",
145
- "HP:0003225",
146
- "HP:0003493",
147
- "HP:0005584",
148
- "HP:0030839",
149
- "HP:0032376"
150
- ],
151
- [
152
- "OMIM:144700",
153
- "OMIM:152700",
154
- "OMIM:300854",
155
- "OMIM:605074",
156
- "OMIM:606579",
157
- "OMIM:609939",
158
- "OMIM:614420",
159
- "ORPHA:93552"
160
- ]
161
- ],
162
- [
163
- [
164
- "HP:0000089",
165
- "HP:0000107",
166
- "HP:0000217",
167
- "HP:0001407",
168
- "HP:0001785",
169
- "HP:0001962",
170
- "HP:0002015",
171
- "HP:0002018",
172
- "HP:0002020",
173
- "HP:0002027",
174
- "HP:0002036",
175
- "HP:0002110",
176
- "HP:0002321",
177
- "HP:0003138",
178
- "HP:0003165",
179
- "HP:0003236",
180
- "HP:0003259",
181
- "HP:0003418",
182
- "HP:0003565",
183
- "HP:0006682",
184
- "HP:0009098",
185
- "HP:0011227",
186
- "HP:0011897",
187
- "HP:0012213",
188
- "HP:0012378",
189
- "HP:0012387",
190
- "HP:0012514",
191
- "HP:0025179",
192
- "HP:0025392",
193
- "HP:0030057",
194
- "HP:0030830",
195
- "HP:0030877",
196
- "HP:0032017",
197
- "HP:0045051",
198
- "HP:0100643",
199
- "HP:0410019"
200
- ],
201
- [
202
- "OMIM:270150"
203
- ]
204
- ],
205
- [
206
- [
207
- "HP:0000271",
208
- "HP:0000975",
209
- "HP:0000980",
210
- "HP:0001279",
211
- "HP:0001824",
212
- "HP:0001974",
213
- "HP:0002013",
214
- "HP:0002018",
215
- "HP:0002315",
216
- "HP:0003546",
217
- "HP:0003565",
218
- "HP:0012378",
219
- "HP:0012531",
220
- "HP:0025143",
221
- "HP:0030164"
222
- ],
223
- [
224
- "OMIM:187360",
225
- "ORPHA:397"
226
- ]
227
- ],
228
- [
229
- [
230
- "HP:0000540",
231
- "HP:0000554",
232
- "HP:0001097",
233
- "HP:0001443",
234
- "HP:0002808",
235
- "HP:0002907",
236
- "HP:0003418",
237
- "HP:0005197",
238
- "HP:0100512"
239
- ],
240
- [
241
- "OMIM:106300",
242
- "OMIM:183840"
243
- ]
244
- ],
245
- [
246
- [
247
- "HP:0000083",
248
- "HP:0000366",
249
- "HP:0000989",
250
- "HP:0001639",
251
- "HP:0001644",
252
- "HP:0001698",
253
- "HP:0001712",
254
- "HP:0001945",
255
- "HP:0002094",
256
- "HP:0010876",
257
- "HP:0012213",
258
- "HP:0012378",
259
- "HP:0012664",
260
- "HP:0012735",
261
- "HP:0012819",
262
- "HP:0032017"
263
- ],
264
- [
265
- "OMIM:207600",
266
- "ORPHA:3287"
267
- ]
268
- ],
269
- [
270
- [
271
- "HP:0000012",
272
- "HP:0000246",
273
- "HP:0001649",
274
- "HP:0001945",
275
- "HP:0001974",
276
- "HP:0002105",
277
- "HP:0002202",
278
- "HP:0003115",
279
- "HP:0005110",
280
- "HP:0011227",
281
- "HP:0012735",
282
- "HP:0020181",
283
- "HP:0025392",
284
- "HP:0100534",
285
- "HP:0100749"
286
- ],
287
- [
288
- "OMIM:608710",
289
- "ORPHA:900"
290
- ]
291
- ],
292
- [
293
- [
294
- "HP:0000217",
295
- "HP:0000633",
296
- "HP:0001167",
297
- "HP:0001225",
298
- "HP:0001760",
299
- "HP:0001935",
300
- "HP:0002076",
301
- "HP:0002815",
302
- "HP:0002829",
303
- "HP:0002923",
304
- "HP:0003212",
305
- "HP:0003237",
306
- "HP:0003326",
307
- "HP:0003394",
308
- "HP:0003493",
309
- "HP:0004386",
310
- "HP:0005197",
311
- "HP:0005263",
312
- "HP:0011911",
313
- "HP:0030836",
314
- "HP:0030839",
315
- "HP:0030840",
316
- "HP:0032235",
317
- "HP:0032308"
318
- ],
319
- [
320
- "OMIM:270150",
321
- "ORPHA:29207",
322
- "ORPHA:85408",
323
- "ORPHA:85414",
324
- "ORPHA:85435"
325
- ]
326
- ],
327
- [
328
- [
329
- "HP:0000097",
330
- "HP:0001065",
331
- "HP:0002149",
332
- "HP:0002155",
333
- "HP:0002907",
334
- "HP:0002910",
335
- "HP:0003073",
336
- "HP:0003124",
337
- "HP:0003138",
338
- "HP:0003149",
339
- "HP:0003565",
340
- "HP:0005413",
341
- "HP:0007390",
342
- "HP:0009741",
343
- "HP:0010783",
344
- "HP:0010931",
345
- "HP:0011227",
346
- "HP:0012213",
347
- "HP:0012595",
348
- "HP:0012611",
349
- "HP:0100515"
350
- ],
351
- [
352
- "OMIM:603278",
353
- "OMIM:603965",
354
- "OMIM:607832",
355
- "OMIM:612551",
356
- "OMIM:613237",
357
- "OMIM:614131",
358
- "OMIM:616002",
359
- "OMIM:616032",
360
- "OMIM:616220"
361
- ]
362
- ],
363
- [
364
- [
365
- "HP:0000155",
366
- "HP:0000246",
367
- "HP:0000433",
368
- "HP:0001894",
369
- "HP:0001945",
370
- "HP:0001974",
371
- "HP:0002094",
372
- "HP:0002815",
373
- "HP:0003155",
374
- "HP:0003565",
375
- "HP:0005413",
376
- "HP:0011227",
377
- "HP:0012219",
378
- "HP:0025289",
379
- "HP:0030948",
380
- "HP:0032118",
381
- "HP:0032154",
382
- "HP:0100721",
383
- "HP:0100749"
384
- ],
385
- [
386
- "OMIM:109650",
387
- "ORPHA:117"
388
- ]
389
- ],
390
- [
391
- [
392
- "HP:0000083",
393
- "HP:0000099",
394
- "HP:0000246",
395
- "HP:0000366",
396
- "HP:0000509",
397
- "HP:0001945",
398
- "HP:0002105",
399
- "HP:0003546",
400
- "HP:0012735",
401
- "HP:0030834",
402
- "HP:0030835",
403
- "HP:0030839",
404
- "HP:0040223",
405
- "HP:0100520"
406
- ],
407
- [
408
- "OMIM:608710",
409
- "ORPHA:900"
410
- ]
411
- ],
412
- [
413
- [
414
- "HP:0000083",
415
- "HP:0000107",
416
- "HP:0000572",
417
- "HP:0000822",
418
- "HP:0000979",
419
- "HP:0001397",
420
- "HP:0001407",
421
- "HP:0001970",
422
- "HP:0002018",
423
- "HP:0002088",
424
- "HP:0002094",
425
- "HP:0002315",
426
- "HP:0002907",
427
- "HP:0009741",
428
- "HP:0012085",
429
- "HP:0012378",
430
- "HP:0012398",
431
- "HP:0012461",
432
- "HP:0012594",
433
- "HP:0012735",
434
- "HP:0031812",
435
- "HP:0100721"
436
- ],
437
- [
438
- "OMIM:181000",
439
- "OMIM:612387",
440
- "ORPHA:797"
441
- ]
442
- ],
443
- [
444
- [
445
- "HP:0000100",
446
- "HP:0000366",
447
- "HP:0000790",
448
- "HP:0000793",
449
- "HP:0000979",
450
- "HP:0001225",
451
- "HP:0002094",
452
- "HP:0002155",
453
- "HP:0003124",
454
- "HP:0004324",
455
- "HP:0010741",
456
- "HP:0012398",
457
- "HP:0012596",
458
- "HP:0012597",
459
- "HP:0031504"
460
- ],
461
- [
462
- "ORPHA:761"
463
- ]
464
- ],
465
- [
466
- [
467
- "HP:0000164",
468
- "HP:0001596",
469
- "HP:0002659",
470
- "HP:0003282",
471
- "HP:0004322",
472
- "HP:0005268",
473
- "HP:0012378",
474
- "HP:0012514",
475
- "HP:0031456"
476
- ],
477
- [
478
- "CCRD:50",
479
- "OMIM:146300",
480
- "ORPHA:436"
481
- ]
482
- ],
483
- [
484
- [
485
- "HP:0000265",
486
- "HP:0000365",
487
- "HP:0000666",
488
- "HP:0000858",
489
- "HP:0001649",
490
- "HP:0001785",
491
- "HP:0001824",
492
- "HP:0001962",
493
- "HP:0002321",
494
- "HP:0005421",
495
- "HP:0010628",
496
- "HP:0030057",
497
- "HP:0045042",
498
- "HP:0200097"
499
- ],
500
- [
501
- "OMIM:181000",
502
- "OMIM:612387",
503
- "ORPHA:797"
504
- ]
505
- ],
506
- [
507
- [
508
- "HP:0000246",
509
- "HP:0000520",
510
- "HP:0000651",
511
- "HP:0000822",
512
- "HP:0001144",
513
- "HP:0001653",
514
- "HP:0001659",
515
- "HP:0001712",
516
- "HP:0002155",
517
- "HP:0002240",
518
- "HP:0002896",
519
- "HP:0003124",
520
- "HP:0005180",
521
- "HP:0012213",
522
- "HP:0012246",
523
- "HP:0032300",
524
- "HP:0100540"
525
- ],
526
- [
527
- "CCRD:56",
528
- "OMIM:228800",
529
- "ORPHA:49041"
530
- ]
531
- ],
532
- [
533
- [
534
- "HP:0000365",
535
- "HP:0001649",
536
- "HP:0001744",
537
- "HP:0001945",
538
- "HP:0002153",
539
- "HP:0002321",
540
- "HP:0002850",
541
- "HP:0003072",
542
- "HP:0003115",
543
- "HP:0003565",
544
- "HP:0005339",
545
- "HP:0011227",
546
- "HP:0011788",
547
- "HP:0025238",
548
- "HP:0030835",
549
- "HP:0030836",
550
- "HP:0030838",
551
- "HP:0030839"
552
- ],
553
- [
554
- "OMIM:120100",
555
- "OMIM:191900",
556
- "OMIM:607115",
557
- "OMIM:611762",
558
- "OMIM:614468",
559
- "OMIM:616115",
560
- "ORPHA:1451",
561
- "ORPHA:47045",
562
- "ORPHA:575"
563
- ]
564
- ],
565
- [
566
- [
567
- "HP:0000010",
568
- "HP:0000230",
569
- "HP:0000282",
570
- "HP:0000421",
571
- "HP:0000975",
572
- "HP:0001600",
573
- "HP:0001824",
574
- "HP:0001880",
575
- "HP:0001935",
576
- "HP:0002105",
577
- "HP:0002113",
578
- "HP:0002153",
579
- "HP:0002875",
580
- "HP:0003546",
581
- "HP:0008221",
582
- "HP:0010287",
583
- "HP:0010628",
584
- "HP:0011227",
585
- "HP:0012378",
586
- "HP:0012398",
587
- "HP:0025289",
588
- "HP:0025392",
589
- "HP:0030001",
590
- "HP:0030835",
591
- "HP:0030839",
592
- "HP:0031098",
593
- "HP:0031292",
594
- "HP:0032230",
595
- "HP:0100631"
596
- ],
597
- [
598
- "OMIM:181000",
599
- "OMIM:612387",
600
- "ORPHA:797"
601
- ]
602
- ],
603
- [
604
- [
605
- "HP:0000036",
606
- "HP:0000155",
607
- "HP:0000421",
608
- "HP:0000554",
609
- "HP:0000572",
610
- "HP:0000790",
611
- "HP:0000822",
612
- "HP:0001369",
613
- "HP:0001785",
614
- "HP:0002027",
615
- "HP:0002380",
616
- "HP:0002829",
617
- "HP:0002910",
618
- "HP:0002922",
619
- "HP:0003236",
620
- "HP:0003259",
621
- "HP:0003326",
622
- "HP:0003394",
623
- "HP:0003416",
624
- "HP:0003418",
625
- "HP:0003474",
626
- "HP:0007042",
627
- "HP:0009027",
628
- "HP:0010280",
629
- "HP:0011911",
630
- "HP:0012378",
631
- "HP:0012534",
632
- "HP:0025435",
633
- "HP:0030948",
634
- "HP:0032101",
635
- "HP:0032154",
636
- "HP:0100518",
637
- "HP:0410019"
638
- ],
639
- [
640
- "OMIM:109650",
641
- "ORPHA:117"
642
- ]
643
- ],
644
- [
645
- [
646
- "HP:0000989",
647
- "HP:0001649",
648
- "HP:0001785",
649
- "HP:0001824",
650
- "HP:0001888",
651
- "HP:0001903",
652
- "HP:0001945",
653
- "HP:0001974",
654
- "HP:0002815",
655
- "HP:0003073",
656
- "HP:0003115",
657
- "HP:0003236",
658
- "HP:0003326",
659
- "HP:0003458",
660
- "HP:0003493",
661
- "HP:0003546",
662
- "HP:0003565",
663
- "HP:0005197",
664
- "HP:0005413",
665
- "HP:0006163",
666
- "HP:0010783",
667
- "HP:0011227",
668
- "HP:0011897",
669
- "HP:0012514",
670
- "HP:0012735",
671
- "HP:0025131",
672
- "HP:0030167",
673
- "HP:0032232",
674
- "HP:0100614",
675
- "HP:0100643",
676
- "HP:0410174"
677
- ],
678
- [
679
- "ORPHA:81"
680
- ]
681
- ],
682
- [
683
- [
684
- "HP:0000961",
685
- "HP:0001397",
686
- "HP:0001880",
687
- "HP:0002113",
688
- "HP:0002716",
689
- "HP:0002910",
690
- "HP:0003124",
691
- "HP:0003165",
692
- "HP:0003212",
693
- "HP:0011799",
694
- "HP:0030057",
695
- "HP:0030948"
696
- ],
697
- [
698
- "ORPHA:482"
699
- ]
700
- ],
701
- [
702
- [
703
- "HP:0000246",
704
- "HP:0001880",
705
- "HP:0002094",
706
- "HP:0002113",
707
- "HP:0003212",
708
- "HP:0025392",
709
- "HP:0030057",
710
- "HP:0100582"
711
- ],
712
- [
713
- "ORPHA:183"
714
- ]
715
- ],
716
- [
717
- [
718
- "HP:0000155",
719
- "HP:0000853",
720
- "HP:0001369",
721
- "HP:0001600",
722
- "HP:0001903",
723
- "HP:0001962",
724
- "HP:0002020",
725
- "HP:0002315",
726
- "HP:0002380",
727
- "HP:0002385",
728
- "HP:0002815",
729
- "HP:0002829",
730
- "HP:0003326",
731
- "HP:0003445",
732
- "HP:0003474",
733
- "HP:0003493",
734
- "HP:0005421",
735
- "HP:0006261",
736
- "HP:0010876",
737
- "HP:0011712",
738
- "HP:0011717",
739
- "HP:0011911",
740
- "HP:0012513",
741
- "HP:0012534",
742
- "HP:0030833",
743
- "HP:0030835",
744
- "HP:0030837",
745
- "HP:0030839",
746
- "HP:0031731",
747
- "HP:0032154",
748
- "HP:0100643",
749
- "HP:0410281"
750
- ],
751
- [
752
- "ORPHA:81"
753
- ]
754
- ],
755
- [
756
- [
757
- "HP:0000245",
758
- "HP:0000421",
759
- "HP:0000433",
760
- "HP:0002105",
761
- "HP:0025095",
762
- "HP:0030835",
763
- "HP:0030839",
764
- "HP:0030840"
765
- ],
766
- [
767
- "OMIM:608710",
768
- "ORPHA:900"
769
- ]
770
- ],
771
- [
772
- [
773
- "HP:0001397",
774
- "HP:0001945",
775
- "HP:0001974",
776
- "HP:0002020",
777
- "HP:0002240",
778
- "HP:0002896",
779
- "HP:0002910",
780
- "HP:0003418",
781
- "HP:0003546",
782
- "HP:0005165",
783
- "HP:0005197",
784
- "HP:0008775",
785
- "HP:0011227",
786
- "HP:0012317",
787
- "HP:0012378",
788
- "HP:0030830",
789
- "HP:0030835",
790
- "HP:0030839",
791
- "HP:0030948",
792
- "HP:0031352",
793
- "HP:0045051",
794
- "HP:0045073",
795
- "HP:0100749",
796
- "HP:0200041"
797
- ],
798
- [
799
- "OMIM:106300",
800
- "OMIM:183840"
801
- ]
802
- ],
803
- [
804
- [
805
- "HP:0001974",
806
- "HP:0002754",
807
- "HP:0003565",
808
- "HP:0011227",
809
- "HP:0030793",
810
- "HP:0040264",
811
- "HP:0100774",
812
- "HP:0100847"
813
- ],
814
- [
815
- "ORPHA:793"
816
- ]
817
- ],
818
- [
819
- [
820
- "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
- "HP:0000103",
940
- "HP:0001061",
941
- "HP:0001959",
942
- "HP:0002315",
943
- "HP:0002815",
944
- "HP:0002829",
945
- "HP:0003236",
946
- "HP:0005197",
947
- "HP:0011911",
948
- "HP:0012378",
949
- "HP:0025238",
950
- "HP:0030835",
951
- "HP:0030836",
952
- "HP:0030839",
953
- "HP:0030841",
954
- "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
- "HP:0002315",
977
- "HP:0002907",
978
- "HP:0003043",
979
- "HP:0003249",
980
- "HP:0003326",
981
- "HP:0003401",
982
- "HP:0003418",
983
- "HP:0003474",
984
- "HP:0003546",
985
- "HP:0003565",
986
- "HP:0005413",
987
- "HP:0011227",
988
- "HP:0011706",
989
- "HP:0012378",
990
- "HP:0012574",
991
- "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
- "HP:0011227",
1367
- "HP:0025346",
1368
- "HP:0030840",
1369
- "HP:0031185",
1370
- "HP:0032177",
1371
- "HP:0045042",
1372
- "HP:0100778"
1373
- ],
1374
- [
1375
- "OMIM:123550",
1376
- "ORPHA:91138"
1377
- ]
1378
- ],
1379
- [
1380
- [
1381
- "HP:0000388",
1382
- "HP:0000961",
1383
- "HP:0001698",
1384
- "HP:0001780",
1385
- "HP:0002202",
1386
- "HP:0002829",
1387
- "HP:0009830",
1388
- "HP:0011025",
1389
- "HP:0100758"
1390
- ],
1391
- [
1392
- "OMIM:608710",
1393
- "ORPHA:900"
1394
- ]
1395
- ],
1396
- [
1397
- [
1398
- "HP:0000821",
1399
- "HP:0000989",
1400
- "HP:0001081",
1401
- "HP:0001575",
1402
- "HP:0001644",
1403
- "HP:0001662",
1404
- "HP:0001735",
1405
- "HP:0001824",
1406
- "HP:0001972",
1407
- "HP:0001974",
1408
- "HP:0002018",
1409
- "HP:0002371",
1410
- "HP:0002546",
1411
- "HP:0002633",
1412
- "HP:0002870",
1413
- "HP:0002925",
1414
- "HP:0003115",
1415
- "HP:0003165",
1416
- "HP:0003493",
1417
- "HP:0003565",
1418
- "HP:0011227",
1419
- "HP:0011709",
1420
- "HP:0030948",
1421
- "HP:0031588",
1422
- "HP:0032210",
1423
- "HP:0032229",
1424
- "HP:0032300",
1425
- "HP:0100546",
1426
- "HP:0100646"
1427
- ],
1428
- [
1429
- "CCRD:56",
1430
- "OMIM:228800",
1431
- "ORPHA:49041"
1432
- ]
1433
- ],
1434
- [
1435
- [
1436
- "HP:0001155",
1437
- "HP:0001824",
1438
- "HP:0002910",
1439
- "HP:0002923",
1440
- "HP:0003281",
1441
- "HP:0003565",
1442
- "HP:0005339",
1443
- "HP:0005413",
1444
- "HP:0006248",
1445
- "HP:0011227",
1446
- "HP:0012513",
1447
- "HP:0012534",
1448
- "HP:0030833",
1449
- "HP:0100545",
1450
- "HP:0100778",
1451
- "HP:0200041"
1452
- ],
1453
- [
1454
- "OMIM:123550",
1455
- "ORPHA:91138"
1456
- ]
1457
- ],
1458
- [
1459
- [
1460
- "HP:0000967",
1461
- "HP:0001873",
1462
- "HP:0001974",
1463
- "HP:0002315",
1464
- "HP:0002633",
1465
- "HP:0002910",
1466
- "HP:0003262",
1467
- "HP:0003493",
1468
- "HP:0003565",
1469
- "HP:0005421",
1470
- "HP:0006562",
1471
- "HP:0009830",
1472
- "HP:0010741",
1473
- "HP:0011227",
1474
- "HP:0012378",
1475
- "HP:0012514",
1476
- "HP:0025238",
1477
- "HP:0030167",
1478
- "HP:0045042",
1479
- "HP:0100643",
1480
- "HP:0100778"
1481
- ],
1482
- [
1483
- "OMIM:123550",
1484
- "ORPHA:91138"
1485
- ]
1486
- ],
1487
- [
1488
- [
1489
- "HP:0000031",
1490
- "HP:0000509",
1491
- "HP:0001701",
1492
- "HP:0001744",
1493
- "HP:0001824",
1494
- "HP:0001945",
1495
- "HP:0001974",
1496
- "HP:0002014",
1497
- "HP:0002027",
1498
- "HP:0002815",
1499
- "HP:0003073",
1500
- "HP:0003216",
1501
- "HP:0003259",
1502
- "HP:0003565",
1503
- "HP:0010783",
1504
- "HP:0011227",
1505
- "HP:0011956",
1506
- "HP:0012378",
1507
- "HP:0012596",
1508
- "HP:0012597",
1509
- "HP:0030166",
1510
- "HP:0030838",
1511
- "HP:0100016",
1512
- "HP:0100539"
1513
- ],
1514
- [
1515
- "OMIM:142680",
1516
- "ORPHA:32960"
1517
- ]
1518
- ],
1519
- [
1520
- [
1521
- "HP:0000138",
1522
- "HP:0001397",
1523
- "HP:0001744",
1524
- "HP:0001945",
1525
- "HP:0002829",
1526
- "HP:0002875",
1527
- "HP:0003326",
1528
- "HP:0003546",
1529
- "HP:0011227",
1530
- "HP:0030166"
1531
- ],
1532
- [
1533
- "CCRD:28",
1534
- "OMIM:134610",
1535
- "OMIM:249100",
1536
- "ORPHA:342"
1537
- ]
1538
- ],
1539
- [
1540
- [
1541
- "HP:0000017",
1542
- "HP:0000107",
1543
- "HP:0000138",
1544
- "HP:0000975",
1545
- "HP:0001041",
1546
- "HP:0001386",
1547
- "HP:0001397",
1548
- "HP:0001541",
1549
- "HP:0001649",
1550
- "HP:0001735",
1551
- "HP:0001780",
1552
- "HP:0002013",
1553
- "HP:0002014",
1554
- "HP:0002018",
1555
- "HP:0002059",
1556
- "HP:0002094",
1557
- "HP:0002102",
1558
- "HP:0002149",
1559
- "HP:0002155",
1560
- "HP:0002202",
1561
- "HP:0002240",
1562
- "HP:0002829",
1563
- "HP:0002896",
1564
- "HP:0002923",
1565
- "HP:0003124",
1566
- "HP:0003149",
1567
- "HP:0003281",
1568
- "HP:0003326",
1569
- "HP:0003418",
1570
- "HP:0003496",
1571
- "HP:0003546",
1572
- "HP:0003573",
1573
- "HP:0005197",
1574
- "HP:0005339",
1575
- "HP:0006163",
1576
- "HP:0009726",
1577
- "HP:0009830",
1578
- "HP:0011227",
1579
- "HP:0012611",
1580
- "HP:0025346",
1581
- "HP:0030833",
1582
- "HP:0030834",
1583
- "HP:0030837",
1584
- "HP:0030948",
1585
- "HP:0031226",
1586
- "HP:0031520",
1587
- "HP:0032300",
1588
- "HP:0100512",
1589
- "HP:0100643",
1590
- "HP:0100785",
1591
- "HP:0410367"
1592
- ],
1593
- [
1594
- "ORPHA:81"
1595
- ]
1596
- ],
1597
- [
1598
- [
1599
- "HP:0000093",
1600
- "HP:0000245",
1601
- "HP:0000377",
1602
- "HP:0000433",
1603
- "HP:0000790",
1604
- "HP:0001063",
1605
- "HP:0001785",
1606
- "HP:0001903",
1607
- "HP:0002910",
1608
- "HP:0003259",
1609
- "HP:0011227",
1610
- "HP:0012213",
1611
- "HP:0032230"
1612
- ],
1613
- [
1614
- "OMIM:608710",
1615
- "ORPHA:900"
1616
- ]
1617
- ],
1618
- [
1619
- [
1620
- "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",
2210
- "HP:0002148",
2211
- "HP:0002240",
2212
- "HP:0002315",
2213
- "HP:0002321",
2214
- "HP:0002716",
2215
- "HP:0002814",
2216
- "HP:0002875",
2217
- "HP:0003418",
2218
- "HP:0003546",
2219
- "HP:0003565",
2220
- "HP:0004418",
2221
- "HP:0005108",
2222
- "HP:0005268",
2223
- "HP:0006256",
2224
- "HP:0006261",
2225
- "HP:0007210",
2226
- "HP:0010287",
2227
- "HP:0012513",
2228
- "HP:0012514",
2229
- "HP:0012534",
2230
- "HP:0025238",
2231
- "HP:0030833",
2232
- "HP:0030836",
2233
- "HP:0030837",
2234
- "HP:0030838",
2235
- "HP:0030839",
2236
- "HP:0030840"
2237
- ],
2238
- [
2239
- "OMIM:134750",
2240
- "ORPHA:47612"
2241
- ]
2242
- ],
2243
- [
2244
- [
2245
- "HP:0000365",
2246
- "HP:0000822",
2247
- "HP:0002105",
2248
- "HP:0002315",
2249
- "HP:0002829",
2250
- "HP:0012384",
2251
- "HP:0030836",
2252
- "HP:0030839",
2253
- "HP:0030840"
2254
- ],
2255
- [
2256
- "OMIM:608710",
2257
- "ORPHA:900"
2258
- ]
2259
- ],
2260
- [
2261
- [
2262
- "HP:0000083",
2263
- "HP:0000366",
2264
- "HP:0000377",
2265
- "HP:0000572",
2266
- "HP:0000938",
2267
- "HP:0001041",
2268
- "HP:0001167",
2269
- "HP:0001225",
2270
- "HP:0001780",
2271
- "HP:0001880",
2272
- "HP:0001935",
2273
- "HP:0003546",
2274
- "HP:0009129",
2275
- "HP:0010741",
2276
- "HP:0011911",
2277
- "HP:0025238",
2278
- "HP:0030834",
2279
- "HP:0100534",
2280
- "HP:0100758"
2281
- ],
2282
- [
2283
- "ORPHA:728"
2284
- ]
2285
- ],
2286
- [
2287
- [
2288
- "HP:0000766",
2289
- "HP:0001974",
2290
- "HP:0002094",
2291
- "HP:0002754",
2292
- "HP:0002758",
2293
- "HP:0003565",
2294
- "HP:0011227",
2295
- "HP:0100749",
2296
- "HP:0100774"
2297
- ],
2298
- [
2299
- "ORPHA:793"
2300
- ]
2301
- ],
2302
- [
2303
- [
2304
- "HP:0000223",
2305
- "HP:0000793",
2306
- "HP:0000967",
2307
- "HP:0002315",
2308
- "HP:0012378"
2309
- ],
2310
- [
2311
- "ORPHA:761"
2312
- ]
2313
- ],
2314
- [
2315
- [
2316
- "HP:0000217",
2317
- "HP:0000858",
2318
- "HP:0001097",
2319
- "HP:0001882",
2320
- "HP:0002014",
2321
- "HP:0020181",
2322
- "HP:0030057"
2323
- ],
2324
- [
2325
- "OMIM:152700",
2326
- "OMIM:270150",
2327
- "OMIM:606579",
2328
- "OMIM:609939",
2329
- "OMIM:614420",
2330
- "ORPHA:93552"
2331
- ]
2332
- ],
2333
- [
2334
- [
2335
- "HP:0000246",
2336
- "HP:0001880",
2337
- "HP:0002094",
2338
- "HP:0002113",
2339
- "HP:0002583",
2340
- "HP:0002910",
2341
- "HP:0003212",
2342
- "HP:0003236",
2343
- "HP:0009098",
2344
- "HP:0011227",
2345
- "HP:0011897",
2346
- "HP:0012213",
2347
- "HP:0012387",
2348
- "HP:0025066",
2349
- "HP:0025392",
2350
- "HP:0030057",
2351
- "HP:0030877",
2352
- "HP:0032300",
2353
- "HP:0100512",
2354
- "HP:0100582"
2355
- ],
2356
- [
2357
- "ORPHA:183"
2358
- ]
2359
- ],
2360
- [
2361
- [
2362
- "HP:0002633",
2363
- "HP:0003565",
2364
- "HP:0011227",
2365
- "HP:0012273",
2366
- "HP:0012378",
2367
- "HP:0025289",
2368
- "HP:0030833"
2369
- ],
2370
- [
2371
- "OMIM:207600",
2372
- "ORPHA:3287"
2373
- ]
2374
- ],
2375
- [
2376
- [
2377
- "HP:0000953",
2378
- "HP:0001894",
2379
- "HP:0001897",
2380
- "HP:0001945",
2381
- "HP:0002659",
2382
- "HP:0002910",
2383
- "HP:0003155",
2384
- "HP:0003261",
2385
- "HP:0003326",
2386
- "HP:0003565",
2387
- "HP:0005180",
2388
- "HP:0011120",
2389
- "HP:0011227",
2390
- "HP:0012735",
2391
- "HP:0025392",
2392
- "HP:0025547",
2393
- "HP:0030313",
2394
- "HP:0030840",
2395
- "HP:0030948",
2396
- "HP:0032230",
2397
- "HP:0100827"
2398
- ],
2399
- [
2400
- "OMIM:608710",
2401
- "ORPHA:900"
2402
- ]
2403
- ],
2404
- [
2405
- [
2406
- "HP:0001061",
2407
- "HP:0001649",
2408
- "HP:0001712",
2409
- "HP:0001962",
2410
- "HP:0002829",
2411
- "HP:0003115",
2412
- "HP:0004342",
2413
- "HP:0007514",
2414
- "HP:0012513",
2415
- "HP:0025131",
2416
- "HP:0030837",
2417
- "HP:0030839",
2418
- "HP:0030840",
2419
- "HP:0200034"
2420
- ],
2421
- [
2422
- "CCRD:27",
2423
- "OMIM:301500",
2424
- "ORPHA:324"
2425
- ]
2426
- ],
2427
- [
2428
- [
2429
- "HP:0001167",
2430
- "HP:0001225",
2431
- "HP:0001369",
2432
- "HP:0001386",
2433
- "HP:0001397",
2434
- "HP:0001600",
2435
- "HP:0001707",
2436
- "HP:0001780",
2437
- "HP:0001785",
2438
- "HP:0001824",
2439
- "HP:0001945",
2440
- "HP:0002027",
2441
- "HP:0002092",
2442
- "HP:0002149",
2443
- "HP:0002592",
2444
- "HP:0002815",
2445
- "HP:0002829",
2446
- "HP:0003149",
2447
- "HP:0003326",
2448
- "HP:0003401",
2449
- "HP:0003418",
2450
- "HP:0003493",
2451
- "HP:0003546",
2452
- "HP:0003565",
2453
- "HP:0004396",
2454
- "HP:0005197",
2455
- "HP:0005202",
2456
- "HP:0010741",
2457
- "HP:0011227",
2458
- "HP:0011956",
2459
- "HP:0012185",
2460
- "HP:0012398",
2461
- "HP:0012611",
2462
- "HP:0025230",
2463
- "HP:0030157",
2464
- "HP:0030166",
2465
- "HP:0030836",
2466
- "HP:0030838",
2467
- "HP:0030839",
2468
- "HP:0030840",
2469
- "HP:0030841",
2470
- "HP:0030948",
2471
- "HP:0100016",
2472
- "HP:0410019"
2473
- ],
2474
- [
2475
- "ORPHA:3452"
2476
- ]
2477
- ],
2478
- [
2479
- [
2480
- "HP:0000010",
2481
- "HP:0000979",
2482
- "HP:0001945",
2483
- "HP:0001974",
2484
- "HP:0002633",
2485
- "HP:0010741",
2486
- "HP:0012514",
2487
- "HP:0031520"
2488
- ],
2489
- [
2490
- "ORPHA:761"
2491
- ]
2492
- ]
2493
- ]
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
RDpatient_data/Public/LIRICAL.json DELETED
The diff for this file is too large to render. See raw diff
 
RDpatient_data/Public/MME.json DELETED
@@ -1,797 +0,0 @@
1
- [
2
- [
3
- [
4
- "HP:0000272",
5
- "HP:0000347",
6
- "HP:0000384",
7
- "HP:0000405",
8
- "HP:0000413",
9
- "HP:0000453",
10
- "HP:0000545",
11
- "HP:0008551",
12
- "HP:0008773",
13
- "HP:0009623",
14
- "HP:0010880",
15
- "HP:0011342",
16
- "HP:0011451",
17
- "HP:0011471"
18
- ],
19
- [
20
- "OMIM:610536",
21
- "ORPHA:79113"
22
- ]
23
- ],
24
- [
25
- [
26
- "HP:0000253",
27
- "HP:0000648",
28
- "HP:0001263",
29
- "HP:0001285",
30
- "HP:0001336",
31
- "HP:0001518",
32
- "HP:0001857",
33
- "HP:0003561",
34
- "HP:0009879",
35
- "HP:0009882",
36
- "HP:0011451",
37
- "HP:0012469",
38
- "HP:0100026"
39
- ],
40
- [
41
- "OMIM:614261"
42
- ]
43
- ],
44
- [
45
- [
46
- "HP:0000407",
47
- "HP:0000510",
48
- "HP:0001272",
49
- "HP:0001284",
50
- "HP:0001761",
51
- "HP:0001765",
52
- "HP:0002474",
53
- "HP:0003447",
54
- "HP:0003474",
55
- "HP:0007141",
56
- "HP:0007240",
57
- "HP:0009088",
58
- "HP:0011096",
59
- "HP:0200070"
60
- ],
61
- [
62
- "OMIM:233400"
63
- ]
64
- ],
65
- [
66
- [
67
- "HP:0002194",
68
- "HP:0002282",
69
- "HP:0007033",
70
- "HP:0008058"
71
- ],
72
- [
73
- "OMIM:615960"
74
- ]
75
- ],
76
- [
77
- [
78
- "HP:0000160",
79
- "HP:0000518",
80
- "HP:0000574",
81
- "HP:0000824",
82
- "HP:0002194",
83
- "HP:0002857",
84
- "HP:0002943",
85
- "HP:0003510",
86
- "HP:0005775",
87
- "HP:0007067",
88
- "HP:0008619",
89
- "HP:0011220"
90
- ],
91
- [
92
- "OMIM:616007",
93
- "ORPHA:436174"
94
- ]
95
- ],
96
- [
97
- [
98
- "HP:0000486",
99
- "HP:0000639",
100
- "HP:0000750",
101
- "HP:0001090",
102
- "HP:0001270",
103
- "HP:0001274",
104
- "HP:0001320",
105
- "HP:0002198",
106
- "HP:0002350",
107
- "HP:0002418",
108
- "HP:0007033",
109
- "HP:0011003",
110
- "HP:0011932",
111
- "HP:0030283"
112
- ],
113
- [
114
- "OMIM:615960"
115
- ]
116
- ],
117
- [
118
- [
119
- "HP:0000486",
120
- "HP:0000545",
121
- "HP:0000639",
122
- "HP:0001090",
123
- "HP:0001270",
124
- "HP:0001320",
125
- "HP:0002198",
126
- "HP:0002350",
127
- "HP:0007033",
128
- "HP:0007980"
129
- ],
130
- [
131
- "OMIM:615960"
132
- ]
133
- ],
134
- [
135
- [
136
- "HP:0000486",
137
- "HP:0000518",
138
- "HP:0000646",
139
- "HP:0000729",
140
- "HP:0000750",
141
- "HP:0001090",
142
- "HP:0001105",
143
- "HP:0001270",
144
- "HP:0001320",
145
- "HP:0002198",
146
- "HP:0002350",
147
- "HP:0002418",
148
- "HP:0004691",
149
- "HP:0007033",
150
- "HP:0007980",
151
- "HP:0011003",
152
- "HP:0030285"
153
- ],
154
- [
155
- "OMIM:615960"
156
- ]
157
- ],
158
- [
159
- [
160
- "HP:0000479",
161
- "HP:0000545",
162
- "HP:0000657",
163
- "HP:0000750",
164
- "HP:0001270",
165
- "HP:0001290",
166
- "HP:0002198",
167
- "HP:0007033",
168
- "HP:0007068"
169
- ],
170
- [
171
- "OMIM:615960"
172
- ]
173
- ],
174
- [
175
- [
176
- "HP:0000486",
177
- "HP:0000533",
178
- "HP:0000639",
179
- "HP:0000657",
180
- "HP:0000750",
181
- "HP:0001090",
182
- "HP:0001270",
183
- "HP:0001290",
184
- "HP:0007033",
185
- "HP:0007068",
186
- "HP:0011003"
187
- ],
188
- [
189
- "OMIM:615960"
190
- ]
191
- ],
192
- [
193
- [
194
- "HP:0000175",
195
- "HP:0000201",
196
- "HP:0001328",
197
- "HP:0011968",
198
- "HP:0012418",
199
- "HP:0030282"
200
- ],
201
- [
202
- "OMIM:117650",
203
- "ORPHA:1393"
204
- ]
205
- ],
206
- [
207
- [
208
- "HP:0000201",
209
- "HP:0000218",
210
- "HP:0000494",
211
- "HP:0000670",
212
- "HP:0000878",
213
- "HP:0001328",
214
- "HP:0011968",
215
- "HP:0030279",
216
- "HP:0030282"
217
- ],
218
- [
219
- "OMIM:117650",
220
- "ORPHA:1393"
221
- ]
222
- ],
223
- [
224
- [
225
- "HP:0000175",
226
- "HP:0000201",
227
- "HP:0000316",
228
- "HP:0000494",
229
- "HP:0001257",
230
- "HP:0002011",
231
- "HP:0002072",
232
- "HP:0002091",
233
- "HP:0030282"
234
- ],
235
- [
236
- "OMIM:117650",
237
- "ORPHA:1393"
238
- ]
239
- ],
240
- [
241
- [
242
- "HP:0000175",
243
- "HP:0000201",
244
- "HP:0000453",
245
- "HP:0000465",
246
- "HP:0000476",
247
- "HP:0001040",
248
- "HP:0001631",
249
- "HP:0002650",
250
- "HP:0012306"
251
- ],
252
- [
253
- "OMIM:117650",
254
- "ORPHA:1393"
255
- ]
256
- ],
257
- [
258
- [
259
- "HP:0000201",
260
- "HP:0000218",
261
- "HP:0000765"
262
- ],
263
- [
264
- "OMIM:117650",
265
- "ORPHA:1393"
266
- ]
267
- ],
268
- [
269
- [
270
- "HP:0000175",
271
- "HP:0000201",
272
- "HP:0000405",
273
- "HP:0000824",
274
- "HP:0002650",
275
- "HP:0030282"
276
- ],
277
- [
278
- "OMIM:117650",
279
- "ORPHA:1393"
280
- ]
281
- ],
282
- [
283
- [
284
- "HP:0000175",
285
- "HP:0000201",
286
- "HP:0000883",
287
- "HP:0002025",
288
- "HP:0002650",
289
- "HP:0100543"
290
- ],
291
- [
292
- "OMIM:117650",
293
- "ORPHA:1393"
294
- ]
295
- ],
296
- [
297
- [
298
- "HP:0000175",
299
- "HP:0000201",
300
- "HP:0001631",
301
- "HP:0002093",
302
- "HP:0004719",
303
- "HP:0011968",
304
- "HP:0030282",
305
- "HP:0030300"
306
- ],
307
- [
308
- "OMIM:117650",
309
- "ORPHA:1393"
310
- ]
311
- ],
312
- [
313
- [
314
- "HP:0000175",
315
- "HP:0000201",
316
- "HP:0000204",
317
- "HP:0002098",
318
- "HP:0002650",
319
- "HP:0030282",
320
- "HP:0030300"
321
- ],
322
- [
323
- "OMIM:117650",
324
- "ORPHA:1393"
325
- ]
326
- ],
327
- [
328
- [
329
- "HP:0000201",
330
- "HP:0000405",
331
- "HP:0000486",
332
- "HP:0000540",
333
- "HP:0001631",
334
- "HP:0002098",
335
- "HP:0002650",
336
- "HP:0011968",
337
- "HP:0030282"
338
- ],
339
- [
340
- "OMIM:117650",
341
- "ORPHA:1393"
342
- ]
343
- ],
344
- [
345
- [
346
- "HP:0000175",
347
- "HP:0000201",
348
- "HP:0000405",
349
- "HP:0000878",
350
- "HP:0000883",
351
- "HP:0002650",
352
- "HP:0030282"
353
- ],
354
- [
355
- "OMIM:117650",
356
- "ORPHA:1393"
357
- ]
358
- ],
359
- [
360
- [
361
- "HP:0000160",
362
- "HP:0000272",
363
- "HP:0000286",
364
- "HP:0000337",
365
- "HP:0000639",
366
- "HP:0001250",
367
- "HP:0003196",
368
- "HP:0009765",
369
- "HP:0011344",
370
- "HP:0011347"
371
- ],
372
- [
373
- "OMIM:245570"
374
- ]
375
- ],
376
- [
377
- [
378
- "HP:0000926",
379
- "HP:0001230",
380
- "HP:0001999",
381
- "HP:0002104",
382
- "HP:0002866",
383
- "HP:0003025",
384
- "HP:0003180",
385
- "HP:0005257",
386
- "HP:0006009",
387
- "HP:0008416",
388
- "HP:0008905",
389
- "HP:0010049",
390
- "HP:0011675",
391
- "HP:0030306"
392
- ],
393
- [
394
- "OMIM:250220",
395
- "ORPHA:93317"
396
- ]
397
- ],
398
- [
399
- [
400
- "HP:0000926",
401
- "HP:0000946",
402
- "HP:0001248",
403
- "HP:0001290",
404
- "HP:0001321",
405
- "HP:0001678",
406
- "HP:0002079",
407
- "HP:0002098",
408
- "HP:0002123",
409
- "HP:0003180",
410
- "HP:0003375",
411
- "HP:0004273",
412
- "HP:0005108",
413
- "HP:0009879",
414
- "HP:0100255"
415
- ],
416
- [
417
- "OMIM:250220",
418
- "ORPHA:93317"
419
- ]
420
- ],
421
- [
422
- [
423
- "HP:0000495",
424
- "HP:0000522",
425
- "HP:0001250",
426
- "HP:0001252",
427
- "HP:0001263",
428
- "HP:0001315",
429
- "HP:0001395",
430
- "HP:0001773",
431
- "HP:0002019",
432
- "HP:0002171",
433
- "HP:0002353",
434
- "HP:0002910",
435
- "HP:0006254",
436
- "HP:0006579",
437
- "HP:0009830",
438
- "HP:0010605",
439
- "HP:0012520",
440
- "HP:0200055"
441
- ],
442
- [
443
- "OMIM:615273",
444
- "ORPHA:404454"
445
- ]
446
- ],
447
- [
448
- [
449
- "HP:0000252",
450
- "HP:0000495",
451
- "HP:0000522",
452
- "HP:0001252",
453
- "HP:0001263",
454
- "HP:0001315",
455
- "HP:0001511",
456
- "HP:0002019",
457
- "HP:0002151",
458
- "HP:0002353",
459
- "HP:0002650",
460
- "HP:0002910",
461
- "HP:0009830"
462
- ],
463
- [
464
- "OMIM:615273",
465
- "ORPHA:404454"
466
- ]
467
- ],
468
- [
469
- [
470
- "HP:0000486",
471
- "HP:0000495",
472
- "HP:0000522",
473
- "HP:0001250",
474
- "HP:0001252",
475
- "HP:0001263",
476
- "HP:0001315",
477
- "HP:0001395",
478
- "HP:0001511",
479
- "HP:0001773",
480
- "HP:0002019",
481
- "HP:0002151",
482
- "HP:0002171",
483
- "HP:0002353",
484
- "HP:0002650",
485
- "HP:0002910",
486
- "HP:0006254",
487
- "HP:0006579",
488
- "HP:0006958",
489
- "HP:0010605",
490
- "HP:0012448",
491
- "HP:0012520",
492
- "HP:0200055"
493
- ],
494
- [
495
- "OMIM:615273",
496
- "ORPHA:404454"
497
- ]
498
- ],
499
- [
500
- [
501
- "HP:0000218",
502
- "HP:0000252",
503
- "HP:0000286",
504
- "HP:0000347",
505
- "HP:0000508",
506
- "HP:0000522",
507
- "HP:0001250",
508
- "HP:0001252",
509
- "HP:0001263",
510
- "HP:0001315",
511
- "HP:0001511",
512
- "HP:0001773",
513
- "HP:0002019",
514
- "HP:0002119",
515
- "HP:0002151",
516
- "HP:0002353",
517
- "HP:0002418",
518
- "HP:0002650",
519
- "HP:0003196",
520
- "HP:0006254",
521
- "HP:0006579",
522
- "HP:0009085",
523
- "HP:0009830",
524
- "HP:0009891",
525
- "HP:0200055"
526
- ],
527
- [
528
- "OMIM:615273",
529
- "ORPHA:404454"
530
- ]
531
- ],
532
- [
533
- [
534
- "HP:0000252",
535
- "HP:0000286",
536
- "HP:0001252",
537
- "HP:0001263",
538
- "HP:0001395",
539
- "HP:0001511",
540
- "HP:0002353",
541
- "HP:0003196",
542
- "HP:0006579",
543
- "HP:0006956",
544
- "HP:0100022"
545
- ],
546
- [
547
- "OMIM:615273",
548
- "ORPHA:404454"
549
- ]
550
- ],
551
- [
552
- [
553
- "HP:0000252",
554
- "HP:0000286",
555
- "HP:0000486",
556
- "HP:0000522",
557
- "HP:0000657",
558
- "HP:0001182",
559
- "HP:0001252",
560
- "HP:0001263",
561
- "HP:0001315",
562
- "HP:0001864",
563
- "HP:0002007",
564
- "HP:0002019",
565
- "HP:0002557",
566
- "HP:0002910",
567
- "HP:0005487",
568
- "HP:0006579",
569
- "HP:0010605",
570
- "HP:0010804",
571
- "HP:0011918"
572
- ],
573
- [
574
- "OMIM:615273",
575
- "ORPHA:404454"
576
- ]
577
- ],
578
- [
579
- [
580
- "HP:0000252",
581
- "HP:0000431",
582
- "HP:0000486",
583
- "HP:0000495",
584
- "HP:0000520",
585
- "HP:0000522",
586
- "HP:0000657",
587
- "HP:0000678",
588
- "HP:0001250",
589
- "HP:0001252",
590
- "HP:0001263",
591
- "HP:0001315",
592
- "HP:0001511",
593
- "HP:0001773",
594
- "HP:0002019",
595
- "HP:0002353",
596
- "HP:0002553",
597
- "HP:0002650",
598
- "HP:0005320",
599
- "HP:0200055"
600
- ],
601
- [
602
- "OMIM:615273",
603
- "ORPHA:404454"
604
- ]
605
- ],
606
- [
607
- [
608
- "HP:0000252",
609
- "HP:0000718",
610
- "HP:0001250",
611
- "HP:0010864"
612
- ],
613
- [
614
- "OMIM:604317",
615
- "ORPHA:2512"
616
- ]
617
- ],
618
- [
619
- [
620
- "HP:0000639",
621
- "HP:0000648",
622
- "HP:0001252",
623
- "HP:0001254",
624
- "HP:0001260",
625
- "HP:0002066",
626
- "HP:0002370",
627
- "HP:0007965",
628
- "HP:0008619"
629
- ],
630
- [
631
- "OMIM:601338",
632
- "ORPHA:1171"
633
- ]
634
- ],
635
- [
636
- [
637
- "HP:0000218",
638
- "HP:0000278",
639
- "HP:0000316",
640
- "HP:0000319",
641
- "HP:0000347",
642
- "HP:0000369",
643
- "HP:0000494",
644
- "HP:0000768",
645
- "HP:0001166",
646
- "HP:0001265",
647
- "HP:0001363",
648
- "HP:0001388",
649
- "HP:0001537",
650
- "HP:0001655",
651
- "HP:0001762",
652
- "HP:0001763",
653
- "HP:0002151",
654
- "HP:0002410",
655
- "HP:0002474",
656
- "HP:0002868",
657
- "HP:0003298",
658
- "HP:0003396",
659
- "HP:0006801",
660
- "HP:0006889",
661
- "HP:0010665",
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 DELETED
The diff for this file is too large to render. See raw diff
 
README.md CHANGED
@@ -4,8 +4,8 @@ configs:
4
  data_files:
5
  - split: test
6
  path:
7
- - RDpatient_data/Public/*.json
8
- - RDpatient_data/PUMCH/*.json
9
  license: apache-2.0
10
  task_categories:
11
  - question-answering
@@ -13,14 +13,18 @@ language:
13
  - en
14
  tags:
15
  - medical
 
 
16
  ---
17
 
18
- # Dataset Card for Dataset Name
19
 
20
  <!-- Provide a quick summary of the dataset. -->
21
 
22
  This dataset card aims to be a base template for new datasets. It has been generated using [this raw template](https://github.com/huggingface/huggingface_hub/blob/main/src/huggingface_hub/templates/datasetcard_template.md?plain=1).
23
 
 
 
24
  ## Dataset Details
25
 
26
  ### Dataset Description
@@ -151,4 +155,16 @@ Users should be made aware of the risks, biases and limitations of the dataset.
151
 
152
  ## Dataset Card Contact
153
 
154
- [More Information Needed]
 
 
 
 
 
 
 
 
 
 
 
 
 
4
  data_files:
5
  - split: test
6
  path:
7
+ # - RDpatient_data/Public/*.json
8
+ - RDpatient_data/PUMCH/*.jsonl
9
  license: apache-2.0
10
  task_categories:
11
  - question-answering
 
13
  - en
14
  tags:
15
  - medical
16
+ size_categories:
17
+ - 1K<n<10K
18
  ---
19
 
20
+ # RareBench
21
 
22
  <!-- Provide a quick summary of the dataset. -->
23
 
24
  This dataset card aims to be a base template for new datasets. It has been generated using [this raw template](https://github.com/huggingface/huggingface_hub/blob/main/src/huggingface_hub/templates/datasetcard_template.md?plain=1).
25
 
26
+ Github Repo for RareBench: https://github.com/chenxz1111/RareBench Arxiv Paper for RareBench: https://arxiv.org/pdf/2402.06341.pdf
27
+
28
  ## Dataset Details
29
 
30
  ### Dataset Description
 
155
 
156
  ## Dataset Card Contact
157
 
158
+ [More Information Needed]
159
+
160
+
161
+ <a name="citation"></a>
162
+ ## 📝 Citation
163
+ ```
164
+ @article{chen2024rarebench,
165
+ title={RareBench: Can LLMs Serve as Rare Diseases Specialists?},
166
+ author={Chen, Xuanzhong and Mao, Xiaohao and Guo, Qihan and Wang, Lun and Zhang, Shuyang and Chen, Ting},
167
+ journal={arXiv preprint arXiv:2402.06341},
168
+ year={2024}
169
+ }
170
+ ```