udp.ttl
type: Ontology
version IRI: udp.ttl
version info: 2017-10-05

MONARCH:c000001
type: Person
GENO_0000222: MONARCH:c000001 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000212
RO_0002200: HP_0000218
RO_0002200: HP_0000252
RO_0002200: HP_0000311
RO_0002200: HP_0000316
RO_0002200: HP_0000470
RO_0002200: HP_0000527
RO_0002200: HP_0000639
RO_0002200: HP_0000648
RO_0002200: HP_0000664
RO_0002200: HP_0000822
RO_0002200: HP_0000938
RO_0002200: HP_0000960
RO_0002200: HP_0000998
RO_0002200: HP_0001250
RO_0002200: HP_0001308
RO_0002200: HP_0001508
RO_0002200: HP_0001513
RO_0002200: HP_0001712
RO_0002200: HP_0002020
RO_0002200: HP_0002079
RO_0002200: HP_0002133
RO_0002200: HP_0002188
RO_0002200: HP_0002230
RO_0002200: HP_0002307
RO_0002200: HP_0002421
RO_0002200: HP_0002450
RO_0002200: HP_0002506
RO_0002200: HP_0002521
RO_0002200: HP_0002522
RO_0002200: HP_0002566
RO_0002200: HP_0002580
RO_0002200: HP_0002650
RO_0002200: HP_0002673
RO_0002200: HP_0002944
RO_0002200: HP_0003026
RO_0002200: HP_0003186
RO_0002200: HP_0003561
RO_0002200: HP_0003799
RO_0002200: HP_0004322
RO_0002200: HP_0004936
RO_0002200: HP_0005214
RO_0002200: HP_0005968
RO_0002200: HP_0006958
RO_0002200: HP_0007360
RO_0002200: HP_0007514
RO_0002200: HP_0008872
RO_0002200: HP_0008936
RO_0002200: HP_0010539
RO_0002200: HP_0010804
RO_0002200: HP_0010845
RO_0002200: HP_0011189
RO_0002200: HP_0011448
RO_0002200: HP_0011471
RO_0002200: HP_0012098
RO_0002200: HP_0012695
RO_0002200: HP_0012736
RO_0002200: HP_0030043
RO_0002200: HP_0100559
RO_0002200: HP_0100703
RO_0002200: HP_0100704
RO_0002200: HP_0200134
category: OntologyClass
category: NamedThing

MONARCH:c000002
type: Person
GENO_0000222: MONARCH:c000002 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000020
RO_0002200: HP_0000054
RO_0002200: HP_0000154
RO_0002200: HP_0000219
RO_0002200: HP_0000232
RO_0002200: HP_0000248
RO_0002200: HP_0000349
RO_0002200: HP_0000473
RO_0002200: HP_0000474
RO_0002200: HP_0000484
RO_0002200: HP_0000508
RO_0002200: HP_0000750
RO_0002200: HP_0001263
RO_0002200: HP_0001357
RO_0002200: HP_0001513
RO_0002200: HP_0001662
RO_0002200: HP_0002019
RO_0002200: HP_0002020
RO_0002200: HP_0002208
RO_0002200: HP_0002307
RO_0002200: HP_0002607
RO_0002200: HP_0002938
RO_0002200: HP_0003236
RO_0002200: HP_0003561
RO_0002200: HP_0003763
RO_0002200: HP_0003764
RO_0002200: HP_0004322
RO_0002200: HP_0006462
RO_0002200: HP_0006989
RO_0002200: HP_0007678
RO_0002200: HP_0007768
RO_0002200: HP_0008872
RO_0002200: HP_0010055
RO_0002200: HP_0010192
RO_0002200: HP_0011410
RO_0002200: HP_0011428
RO_0002200: HP_0011452
RO_0002200: HP_0012110
RO_0002200: HP_0012706
RO_0002200: HP_0012708
RO_0002200: HP_0030190
category: OntologyClass
category: NamedThing

MONARCH:c000003
type: Person
GENO_0000222: MONARCH:c000003 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000028
RO_0002200: HP_0000107
RO_0002200: HP_0000252
RO_0002200: HP_0000407
RO_0002200: HP_0000479
RO_0002200: HP_0000505
RO_0002200: HP_0000750
RO_0002200: HP_0001250
RO_0002200: HP_0001263
RO_0002200: HP_0001363
RO_0002200: HP_0001762
RO_0002200: HP_0001947
RO_0002200: HP_0001999
RO_0002200: HP_0002011
RO_0002200: HP_0002194
RO_0002200: HP_0002650
RO_0002200: HP_0002888
RO_0002200: HP_0004322
RO_0002200: HP_0010862
RO_0002200: HP_0010864
category: OntologyClass
category: NamedThing

MONARCH:c000004
type: Person
RO_0002200: DOID 4
RO_0002200: HP_0000613
RO_0002200: HP_0001047
RO_0002200: HP_0001250
RO_0002200: HP_0001256
RO_0002200: HP_0001433
RO_0002200: HP_0001891
RO_0002200: HP_0002099
RO_0002200: HP_0002254
RO_0002200: HP_0002360
RO_0002200: HP_0002650
RO_0002200: HP_0003119
RO_0002200: HP_0010945
RO_0002200: HP_0100512
category: OntologyClass
category: NamedThing

MONARCH:c000005
type: Person
GENO_0000222: MONARCH:c000005 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000252
RO_0002200: HP_0000514
RO_0002200: HP_0001266
RO_0002200: HP_0001290
RO_0002200: HP_0001337
RO_0002200: HP_0001382
RO_0002200: HP_0002172
RO_0002200: HP_0002194
RO_0002200: HP_0002283
RO_0002200: HP_0002304
RO_0002200: HP_0002315
RO_0002200: HP_0002396
RO_0002200: HP_0002451
RO_0002200: HP_0002459
RO_0002200: HP_0003691
RO_0002200: HP_0004325
RO_0002200: HP_0004876
RO_0002200: HP_0005109
RO_0002200: HP_0005556
RO_0002200: HP_0006863
RO_0002200: HP_0007083
RO_0002200: HP_0007519
RO_0002200: HP_0011410
RO_0002200: HP_0011448
RO_0002200: HP_0011515
RO_0002200: HP_0012450
RO_0002200: HP_0100512
RO_0002200: HP_0100543
RO_0002200: HP_0100767
category: OntologyClass
category: NamedThing

MONARCH:c000006
type: Person
GENO_0000222: MONARCH:c000006 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000028
RO_0002200: HP_0001263
RO_0002200: HP_0001290
RO_0002200: HP_0001518
RO_0002200: HP_0002020
RO_0002200: HP_0002205
RO_0002200: HP_0002835
RO_0002200: HP_0003081
RO_0002200: HP_0004322
RO_0002200: HP_0012358
RO_0002200: HP_0100512
category: OntologyClass
category: NamedThing

MONARCH:c000007
type: Person
GENO_0000222: MONARCH:c000007 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000020
RO_0002200: HP_0000717
RO_0002200: HP_0000733
RO_0002200: HP_0000750
RO_0002200: HP_0001054
RO_0002200: HP_0001250
RO_0002200: HP_0001251
RO_0002200: HP_0001263
RO_0002200: HP_0001288
RO_0002200: HP_0001332
RO_0002200: HP_0001336
RO_0002200: HP_0001622
RO_0002200: HP_0002019
RO_0002200: HP_0002072
RO_0002200: HP_0002194
RO_0002200: HP_0010837
RO_0002200: HP_0010862
RO_0002200: HP_0010864
RO_0002200: HP_0012608
RO_0002200: HP_0012753
category: OntologyClass
category: NamedThing

MONARCH:c000008
type: Person
GENO_0000222: MONARCH:c000008 genotype
RO_0002200: DOID 4
RO_0002200: HP_0001489
RO_0002200: HP_0001598
RO_0002200: HP_0001649
RO_0002200: HP_0002019
RO_0002200: HP_0002046
RO_0002200: HP_0002208
RO_0002200: HP_0002360
RO_0002200: HP_0002459
RO_0002200: HP_0003193
RO_0002200: HP_0008383
RO_0002200: HP_0009046
RO_0002200: HP_0009763
RO_0002200: HP_0010678
RO_0002200: HP_0012333
RO_0002200: HP_0012343
RO_0002200: HP_0012378
RO_0002200: HP_0012531
category: OntologyClass
category: NamedThing

MONARCH:c000009
type: Person
GENO_0000222: MONARCH:c000009 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000010
RO_0002200: HP_0000081
RO_0002200: HP_0000160
RO_0002200: HP_0000298
RO_0002200: HP_0000736
RO_0002200: HP_0000739
RO_0002200: HP_0000741
RO_0002200: HP_0000745
RO_0002200: HP_0000822
RO_0002200: HP_0000961
RO_0002200: HP_0001187
RO_0002200: HP_0001290
RO_0002200: HP_0001397
RO_0002200: HP_0001513
RO_0002200: HP_0001558
RO_0002200: HP_0001763
RO_0002200: HP_0001952
RO_0002200: HP_0002136
RO_0002200: HP_0002141
RO_0002200: HP_0002162
RO_0002200: HP_0002194
RO_0002200: HP_0002300
RO_0002200: HP_0002376
RO_0002200: HP_0002714
RO_0002200: HP_0002761
RO_0002200: HP_0002870
RO_0002200: HP_0003077
RO_0002200: HP_0003119
RO_0002200: HP_0003517
RO_0002200: HP_0004324
RO_0002200: HP_0005072
RO_0002200: HP_0006863
RO_0002200: HP_0007021
RO_0002200: HP_0007874
RO_0002200: HP_0008855
RO_0002200: HP_0008936
RO_0002200: HP_0010536
RO_0002200: HP_0010677
RO_0002200: HP_0010845
RO_0002200: HP_0011197
RO_0002200: HP_0011198
RO_0002200: HP_0011351
RO_0002200: HP_0011951
RO_0002200: HP_0011952
RO_0002200: HP_0012378
RO_0002200: HP_0012418
RO_0002200: HP_0012420
RO_0002200: HP_0012450
RO_0002200: HP_0012745
RO_0002200: HP_0012747
RO_0002200: HP_0012759
RO_0002200: HP_0100543
category: OntologyClass
category: NamedThing

MONARCH:c000010
type: Person
GENO_0000222: MONARCH:c000010 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000085
RO_0002200: HP_0000307
RO_0002200: HP_0000316
RO_0002200: HP_0000369
RO_0002200: HP_0000403
RO_0002200: HP_0000486
RO_0002200: HP_0000577
RO_0002200: HP_0000687
RO_0002200: HP_0000708
RO_0002200: HP_0000750
RO_0002200: HP_0000938
RO_0002200: HP_0000960
RO_0002200: HP_0000964
RO_0002200: HP_0001007
RO_0002200: HP_0001034
RO_0002200: HP_0001249
RO_0002200: HP_0001250
RO_0002200: HP_0001251
RO_0002200: HP_0001252
RO_0002200: HP_0001257
RO_0002200: HP_0001263
RO_0002200: HP_0001332
RO_0002200: HP_0001508
RO_0002200: HP_0001561
RO_0002200: HP_0001770
RO_0002200: HP_0001880
RO_0002200: HP_0001891
RO_0002200: HP_0002007
RO_0002200: HP_0002011
RO_0002200: HP_0002014
RO_0002200: HP_0002019
RO_0002200: HP_0002020
RO_0002200: HP_0002072
RO_0002200: HP_0002099
RO_0002200: HP_0002119
RO_0002200: HP_0002136
RO_0002200: HP_0002342
RO_0002200: HP_0002459
RO_0002200: HP_0002719
RO_0002200: HP_0002944
RO_0002200: HP_0005988
RO_0002200: HP_0009800
RO_0002200: HP_0010301
RO_0002200: HP_0010721
RO_0002200: HP_0011330
RO_0002200: HP_0011471
RO_0002200: HP_0012395
RO_0002200: HP_0012452
RO_0002200: HP_0100553
category: OntologyClass
category: NamedThing

MONARCH:c000011
type: Person
GENO_0000222: MONARCH:c000011 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000414
RO_0002200: HP_0000687
RO_0002200: HP_0000691
RO_0002200: HP_0000750
RO_0002200: HP_0000768
RO_0002200: HP_0000988
RO_0002200: HP_0001256
RO_0002200: HP_0001272
RO_0002200: HP_0001276
RO_0002200: HP_0001348
RO_0002200: HP_0001531
RO_0002200: HP_0002059
RO_0002200: HP_0002066
RO_0002200: HP_0002079
RO_0002200: HP_0002119
RO_0002200: HP_0002136
RO_0002200: HP_0002307
RO_0002200: HP_0002334
RO_0002200: HP_0002359
RO_0002200: HP_0002376
RO_0002200: HP_0002381
RO_0002200: HP_0002808
RO_0002200: HP_0003447
RO_0002200: HP_0004209
RO_0002200: HP_0006964
RO_0002200: HP_0008936
RO_0002200: HP_0011096
RO_0002200: HP_0012762
category: OntologyClass
category: NamedThing

MONARCH:c000012
type: Person
GENO_0000222: MONARCH:c000012 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000224
RO_0002200: HP_0001260
RO_0002200: HP_0001308
RO_0002200: HP_0001611
RO_0002200: HP_0001618
RO_0002200: HP_0002015
RO_0002200: HP_0002072
RO_0002200: HP_0002273
RO_0002200: HP_0002366
RO_0002200: HP_0003202
RO_0002200: HP_0003401
RO_0002200: HP_0003445
RO_0002200: HP_0003484
RO_0002200: HP_0003547
RO_0002200: HP_0003722
RO_0002200: HP_0006801
RO_0002200: HP_0007141
RO_0002200: HP_0007373
RO_0002200: HP_0008000
RO_0002200: HP_0011868
RO_0002200: HP_0012473
RO_0002200: HP_0012532
category: OntologyClass
category: NamedThing

MONARCH:c000013
type: Person
RO_0002200: DOID 4
RO_0002200: HP_0000349
RO_0002200: HP_0000508
RO_0002200: HP_0000737
RO_0002200: HP_0000750
RO_0002200: HP_0000759
RO_0002200: HP_0000795
RO_0002200: HP_0000938
RO_0002200: HP_0000975
RO_0002200: HP_0000977
RO_0002200: HP_0001004
RO_0002200: HP_0001182
RO_0002200: HP_0001284
RO_0002200: HP_0001308
RO_0002200: HP_0001315
RO_0002200: HP_0001388
RO_0002200: HP_0001508
RO_0002200: HP_0001558
RO_0002200: HP_0001649
RO_0002200: HP_0002020
RO_0002200: HP_0002033
RO_0002200: HP_0002194
RO_0002200: HP_0002460
RO_0002200: HP_0003134
RO_0002200: HP_0003382
RO_0002200: HP_0003457
RO_0002200: HP_0003458
RO_0002200: HP_0003547
RO_0002200: HP_0003700
RO_0002200: HP_0005750
RO_0002200: HP_0006808
RO_0002200: HP_0006829
RO_0002200: HP_0007739
RO_0002200: HP_0007930
RO_0002200: HP_0009050
RO_0002200: HP_0009129
RO_0002200: HP_0010044
RO_0002200: HP_0010535
RO_0002200: HP_0011471
RO_0002200: HP_0012411
RO_0002200: HP_0012412
RO_0002200: HP_0012434
RO_0002200: HP_0100490
RO_0002200: HP_0100492
RO_0002200: HP_0200136
category: OntologyClass
category: NamedThing

MONARCH:c000014
type: Person
RO_0002200: DOID 4
RO_0002200: HP_0000817
RO_0002200: HP_0001028
RO_0002200: HP_0001269
RO_0002200: HP_0001273
RO_0002200: HP_0001743
RO_0002200: HP_0002020
RO_0002200: HP_0002033
RO_0002200: HP_0002064
RO_0002200: HP_0002307
RO_0002200: HP_0002360
RO_0002200: HP_0003763
RO_0002200: HP_0004660
RO_0002200: HP_0006863
RO_0002200: HP_0006895
RO_0002200: HP_0008936
RO_0002200: HP_0011351
RO_0002200: HP_0011410
RO_0002200: HP_0012423
RO_0002200: HP_0012450
RO_0002200: HP_0012736
category: OntologyClass
category: NamedThing

MONARCH:c000015
type: Person
GENO_0000222: MONARCH:c000015 genotype
RO_0002200: DOID 4
RO_0002200: HP_0002088
RO_0002200: HP_0002099
RO_0002200: HP_0006532
RO_0002200: HP_0011441
RO_0002200: HP_0012416
RO_0002200: HP_0012418
category: OntologyClass
category: NamedThing

MONARCH:c000016
type: Person
GENO_0000222: MONARCH:c000016 genotype
RO_0002200: DOID 4
RO_0002200: HP_0001251
RO_0002200: HP_0001260
RO_0002200: HP_0001272
RO_0002200: HP_0002059
RO_0002200: HP_0004322
RO_0002200: HP_0011147
category: OntologyClass
category: NamedThing

MONARCH:c000017
type: Person
GENO_0000222: MONARCH:c000017 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000613
RO_0002200: HP_0000651
RO_0002200: HP_0000716
RO_0002200: HP_0000821
RO_0002200: HP_0000846
RO_0002200: HP_0000952
RO_0002200: HP_0001265
RO_0002200: HP_0001397
RO_0002200: HP_0001644
RO_0002200: HP_0001711
RO_0002200: HP_0001763
RO_0002200: HP_0001848
RO_0002200: HP_0001875
RO_0002200: HP_0001903
RO_0002200: HP_0001944
RO_0002200: HP_0001946
RO_0002200: HP_0002046
RO_0002200: HP_0002099
RO_0002200: HP_0002572
RO_0002200: HP_0002579
RO_0002200: HP_0002719
RO_0002200: HP_0002761
RO_0002200: HP_0002870
RO_0002200: HP_0002880
RO_0002200: HP_0002901
RO_0002200: HP_0003394
RO_0002200: HP_0003449
RO_0002200: HP_0003517
RO_0002200: HP_0003546
RO_0002200: HP_0004319
RO_0002200: HP_0004488
RO_0002200: HP_0006568
RO_0002200: HP_0007715
RO_0002200: HP_0007979
RO_0002200: HP_0008249
RO_0002200: HP_0009020
RO_0002200: HP_0009051
RO_0002200: HP_0011410
RO_0002200: HP_0012173
RO_0002200: HP_0012323
RO_0002200: HP_0012338
RO_0002200: HP_0012395
RO_0002200: HP_0012432
RO_0002200: HP_0012450
RO_0002200: HP_0012537
RO_0002200: HP_0012734
RO_0002200: HP_0100806
RO_0002200: HP_0200097
category: OntologyClass
category: NamedThing

MONARCH:c000018
type: Person
GENO_0000222: MONARCH:c000018 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000365
RO_0002200: HP_0000505
RO_0002200: HP_0000836
RO_0002200: HP_0001287
RO_0002200: HP_0001954
RO_0002200: HP_0001955
RO_0002200: HP_0002315
RO_0002200: HP_0012229
RO_0002200: HP_0030166
category: OntologyClass
category: NamedThing

MONARCH:c000019
type: Person
GENO_0000222: MONARCH:c000019 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000218
RO_0002200: HP_0000294
RO_0002200: HP_0000347
RO_0002200: HP_0000609
RO_0002200: HP_0000666
RO_0002200: HP_0000823
RO_0002200: HP_0001256
RO_0002200: HP_0001290
RO_0002200: HP_0001831
RO_0002200: HP_0002307
RO_0002200: HP_0002403
RO_0002200: HP_0002944
RO_0002200: HP_0003186
RO_0002200: HP_0005280
RO_0002200: HP_0008523
RO_0002200: HP_0012166
category: OntologyClass
category: NamedThing

MONARCH:c000020
type: Person
GENO_0000222: MONARCH:c000020 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000124
RO_0002200: HP_0000256
RO_0002200: HP_0000337
RO_0002200: HP_0000407
RO_0002200: HP_0000508
RO_0002200: HP_0000510
RO_0002200: HP_0000543
RO_0002200: HP_0000565
RO_0002200: HP_0000577
RO_0002200: HP_0000750
RO_0002200: HP_0000762
RO_0002200: HP_0000938
RO_0002200: HP_0000958
RO_0002200: HP_0000967
RO_0002200: HP_0001239
RO_0002200: HP_0001250
RO_0002200: HP_0001263
RO_0002200: HP_0001290
RO_0002200: HP_0001298
RO_0002200: HP_0001337
RO_0002200: HP_0001344
RO_0002200: HP_0001376
RO_0002200: HP_0001531
RO_0002200: HP_0001662
RO_0002200: HP_0001873
RO_0002200: HP_0002045
RO_0002200: HP_0002123
RO_0002200: HP_0002126
RO_0002200: HP_0002136
RO_0002200: HP_0002141
RO_0002200: HP_0002187
RO_0002200: HP_0002307
RO_0002200: HP_0002376
RO_0002200: HP_0002415
RO_0002200: HP_0002421
RO_0002200: HP_0002500
RO_0002200: HP_0002521
RO_0002200: HP_0002540
RO_0002200: HP_0002616
RO_0002200: HP_0002650
RO_0002200: HP_0002835
RO_0002200: HP_0002902
RO_0002200: HP_0002909
RO_0002200: HP_0002917
RO_0002200: HP_0003429
RO_0002200: HP_0003445
RO_0002200: HP_0003645
RO_0002200: HP_0004322
RO_0002200: HP_0006855
RO_0002200: HP_0007266
RO_0002200: HP_0011220
RO_0002200: HP_0011924
RO_0002200: HP_0011968
RO_0002200: HP_0012650
RO_0002200: HP_0012677
RO_0002200: HP_0012708
RO_0002200: HP_0100874
category: OntologyClass
category: NamedThing

MONARCH:c000021
type: Person
GENO_0000222: MONARCH:c000021 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000212
RO_0002200: HP_0000218
RO_0002200: HP_0000277
RO_0002200: HP_0000377
RO_0002200: HP_0000534
RO_0002200: HP_0000601
RO_0002200: HP_0000609
RO_0002200: HP_0000682
RO_0002200: HP_0001250
RO_0002200: HP_0001263
RO_0002200: HP_0001265
RO_0002200: HP_0001266
RO_0002200: HP_0001357
RO_0002200: HP_0001518
RO_0002200: HP_0001562
RO_0002200: HP_0001623
RO_0002200: HP_0001643
RO_0002200: HP_0001657
RO_0002200: HP_0002020
RO_0002200: HP_0002059
RO_0002200: HP_0002121
RO_0002200: HP_0002123
RO_0002200: HP_0002133
RO_0002200: HP_0002197
RO_0002200: HP_0002384
RO_0002200: HP_0002514
RO_0002200: HP_0002521
RO_0002200: HP_0002599
RO_0002200: HP_0003445
RO_0002200: HP_0003561
RO_0002200: HP_0005484
RO_0002200: HP_0006311
RO_0002200: HP_0006829
RO_0002200: HP_0006926
RO_0002200: HP_0006994
RO_0002200: HP_0007359
RO_0002200: HP_0007502
RO_0002200: HP_0007703
RO_0002200: HP_0011082
RO_0002200: HP_0011201
RO_0002200: HP_0011203
RO_0002200: HP_0011357
RO_0002200: HP_0011410
RO_0002200: HP_0011451
RO_0002200: HP_0011924
RO_0002200: HP_0012371
RO_0002200: HP_0012450
RO_0002200: HP_0012535
RO_0002200: HP_0012706
RO_0002200: HP_0012708
RO_0002200: HP_0100277
RO_0002200: HP_0100512
RO_0002200: HP_0100704
RO_0002200: HP_0100960
category: OntologyClass
category: NamedThing

MONARCH:c000022
type: Person
RO_0002200: DOID 4
RO_0002200: HP_0001265
RO_0002200: HP_0001271
RO_0002200: HP_0002204
RO_0002200: HP_0002380
RO_0002200: HP_0002878
RO_0002200: HP_0003198
RO_0002200: HP_0003323
RO_0002200: HP_0003401
RO_0002200: HP_0007002
RO_0002200: HP_0007354
RO_0002200: HP_0009027
RO_0002200: HP_0009113
RO_0002200: HP_0010535
RO_0002200: HP_0012532
RO_0002200: HP_0012764
category: OntologyClass
category: NamedThing

MONARCH:c000023
type: Person
GENO_0000222: MONARCH:c000023 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000821
RO_0002200: HP_0000822
RO_0002200: HP_0001288
RO_0002200: HP_0001324
RO_0002200: HP_0001646
RO_0002200: HP_0001659
RO_0002200: HP_0002355
RO_0002200: HP_0002617
RO_0002200: HP_0003077
RO_0002200: HP_0003445
RO_0002200: HP_0007340
RO_0002200: HP_0100576
category: OntologyClass
category: NamedThing

MONARCH:c000024
type: Person
GENO_0000222: MONARCH:c000024 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000062
RO_0002200: HP_0000750
RO_0002200: HP_0001257
RO_0002200: HP_0001276
RO_0002200: HP_0001336
RO_0002200: HP_0001622
RO_0002200: HP_0002011
RO_0002200: HP_0002059
RO_0002200: HP_0002072
RO_0002200: HP_0002376
RO_0002200: HP_0002383
RO_0002200: HP_0006101
RO_0002200: HP_0006895
RO_0002200: HP_0010301
RO_0002200: HP_0010543
RO_0002200: HP_0011398
category: OntologyClass
category: NamedThing

MONARCH:c000025
type: Person
GENO_0000222: MONARCH:c000025 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000103
RO_0002200: HP_0000126
RO_0002200: HP_0000377
RO_0002200: HP_0000484
RO_0002200: HP_0000609
RO_0002200: HP_0000613
RO_0002200: HP_0000873
RO_0002200: HP_0000980
RO_0002200: HP_0001027
RO_0002200: HP_0001290
RO_0002200: HP_0001530
RO_0002200: HP_0001531
RO_0002200: HP_0001583
RO_0002200: HP_0001633
RO_0002200: HP_0001702
RO_0002200: HP_0001959
RO_0002200: HP_0001965
RO_0002200: HP_0001998
RO_0002200: HP_0002020
RO_0002200: HP_0002092
RO_0002200: HP_0002099
RO_0002200: HP_0002119
RO_0002200: HP_0002126
RO_0002200: HP_0002360
RO_0002200: HP_0002376
RO_0002200: HP_0002384
RO_0002200: HP_0002395
RO_0002200: HP_0002761
RO_0002200: HP_0002790
RO_0002200: HP_0003228
RO_0002200: HP_0004379
RO_0002200: HP_0005968
RO_0002200: HP_0006543
RO_0002200: HP_0006849
RO_0002200: HP_0006960
RO_0002200: HP_0007165
RO_0002200: HP_0009889
RO_0002200: HP_0010536
RO_0002200: HP_0010627
RO_0002200: HP_0010845
RO_0002200: HP_0011755
RO_0002200: HP_0011787
RO_0002200: HP_0012391
RO_0002200: HP_0012450
RO_0002200: HP_0012469
RO_0002200: HP_0012547
RO_0002200: HP_0012736
RO_0002200: HP_0012841
RO_0002200: HP_0040075
RO_0002200: HP_0100704
RO_0002200: HP_0100738
RO_0002200: HP_0200134
category: OntologyClass
category: NamedThing

MONARCH:c000026
type: Person
GENO_0000222: MONARCH:c000026 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000085
RO_0002200: HP_0000160
RO_0002200: HP_0000183
RO_0002200: HP_0000272
RO_0002200: HP_0000280
RO_0002200: HP_0000316
RO_0002200: HP_0000324
RO_0002200: HP_0000365
RO_0002200: HP_0000506
RO_0002200: HP_0000565
RO_0002200: HP_0000639
RO_0002200: HP_0000646
RO_0002200: HP_0000687
RO_0002200: HP_0000689
RO_0002200: HP_0001093
RO_0002200: HP_0001182
RO_0002200: HP_0001290
RO_0002200: HP_0001385
RO_0002200: HP_0001488
RO_0002200: HP_0001518
RO_0002200: HP_0001623
RO_0002200: HP_0001634
RO_0002200: HP_0001763
RO_0002200: HP_0001773
RO_0002200: HP_0001840
RO_0002200: HP_0002119
RO_0002200: HP_0002136
RO_0002200: HP_0002194
RO_0002200: HP_0002209
RO_0002200: HP_0002389
RO_0002200: HP_0002572
RO_0002200: HP_0002781
RO_0002200: HP_0003423
RO_0002200: HP_0003561
RO_0002200: HP_0004209
RO_0002200: HP_0004279
RO_0002200: HP_0004325
RO_0002200: HP_0004482
RO_0002200: HP_0005469
RO_0002200: HP_0005988
RO_0002200: HP_0006114
RO_0002200: HP_0006482
RO_0002200: HP_0007572
RO_0002200: HP_0008033
RO_0002200: HP_0008113
RO_0002200: HP_0008383
RO_0002200: HP_0008529
RO_0002200: HP_0008780
RO_0002200: HP_0008872
RO_0002200: HP_0009800
RO_0002200: HP_0009899
RO_0002200: HP_0010471
RO_0002200: HP_0010862
RO_0002200: HP_0011120
RO_0002200: HP_0011344
RO_0002200: HP_0011351
RO_0002200: HP_0011410
RO_0002200: HP_0012393
RO_0002200: HP_0012395
RO_0002200: HP_0012450
RO_0002200: HP_0012520
RO_0002200: HP_0012704
RO_0002200: HP_0012707
RO_0002200: HP_0012708
RO_0002200: HP_0012745
RO_0002200: HP_0030190
RO_0002200: HP_0030257
RO_0002200: HP_0040025
RO_0002200: HP_0100309
RO_0002200: HP_0100716
RO_0002200: HP_0100767
RO_0002200: HP_0200055
category: OntologyClass
category: NamedThing

MONARCH:c000027
type: Person
GENO_0000222: MONARCH:c000027 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000016
RO_0002200: HP_0000802
RO_0002200: HP_0002061
RO_0002200: HP_0002191
RO_0002200: HP_0002495
RO_0002200: HP_0002607
RO_0002200: HP_0008944
category: OntologyClass
category: NamedThing

MONARCH:c000028
type: Person
GENO_0000222: MONARCH:c000028 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000180
RO_0002200: HP_0000218
RO_0002200: HP_0000294
RO_0002200: HP_0000324
RO_0002200: HP_0000369
RO_0002200: HP_0000411
RO_0002200: HP_0000447
RO_0002200: HP_0000486
RO_0002200: HP_0000535
RO_0002200: HP_0000540
RO_0002200: HP_0000708
RO_0002200: HP_0000821
RO_0002200: HP_0000965
RO_0002200: HP_0001061
RO_0002200: HP_0001256
RO_0002200: HP_0001263
RO_0002200: HP_0001315
RO_0002200: HP_0001324
RO_0002200: HP_0001595
RO_0002200: HP_0001611
RO_0002200: HP_0001638
RO_0002200: HP_0001644
RO_0002200: HP_0001761
RO_0002200: HP_0001903
RO_0002200: HP_0001999
RO_0002200: HP_0002136
RO_0002200: HP_0002495
RO_0002200: HP_0003237
RO_0002200: HP_0003445
RO_0002200: HP_0003496
RO_0002200: HP_0005280
RO_0002200: HP_0007588
RO_0002200: HP_0008070
RO_0002200: HP_0009830
RO_0002200: HP_0009937
RO_0002200: HP_0012473
RO_0002200: HP_0040079
RO_0002200: HP_0100543
RO_0002200: HP_0100807
RO_0002200: HP_0200055
category: OntologyClass
category: NamedThing

MONARCH:c000029
type: Person
GENO_0000222: MONARCH:c000029 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000405
RO_0002200: HP_0000486
RO_0002200: HP_0000518
RO_0002200: HP_0001256
RO_0002200: HP_0001263
RO_0002200: HP_0001511
RO_0002200: HP_0001518
RO_0002200: HP_0001528
RO_0002200: HP_0001773
RO_0002200: HP_0003561
RO_0002200: HP_0004322
RO_0002200: HP_0004325
RO_0002200: HP_0011398
RO_0002200: HP_0200055
category: OntologyClass
category: NamedThing

MONARCH:c000030
type: Person
GENO_0000222: MONARCH:c000030 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000248
RO_0002200: HP_0000252
RO_0002200: HP_0000498
RO_0002200: HP_0000545
RO_0002200: HP_0000762
RO_0002200: HP_0000939
RO_0002200: HP_0000964
RO_0002200: HP_0001250
RO_0002200: HP_0001298
RO_0002200: HP_0001336
RO_0002200: HP_0001371
RO_0002200: HP_0001518
RO_0002200: HP_0001558
RO_0002200: HP_0001601
RO_0002200: HP_0001605
RO_0002200: HP_0001629
RO_0002200: HP_0001631
RO_0002200: HP_0001716
RO_0002200: HP_0001873
RO_0002200: HP_0001875
RO_0002200: HP_0001943
RO_0002200: HP_0001956
RO_0002200: HP_0001998
RO_0002200: HP_0002015
RO_0002200: HP_0002020
RO_0002200: HP_0002033
RO_0002200: HP_0002058
RO_0002200: HP_0002059
RO_0002200: HP_0002120
RO_0002200: HP_0002187
RO_0002200: HP_0002307
RO_0002200: HP_0002509
RO_0002200: HP_0002538
RO_0002200: HP_0002673
RO_0002200: HP_0002835
RO_0002200: HP_0005946
RO_0002200: HP_0007058
RO_0002200: HP_0007069
RO_0002200: HP_0008944
RO_0002200: HP_0009800
RO_0002200: HP_0009811
RO_0002200: HP_0010845
RO_0002200: HP_0011410
RO_0002200: HP_0012446
RO_0002200: HP_0012450
RO_0002200: HP_0030048
RO_0002200: HP_0030148
RO_0002200: HP_0100750
category: OntologyClass
category: NamedThing

MONARCH:c000031
type: Person
GENO_0000222: MONARCH:c000031 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000020
RO_0002200: HP_0000716
RO_0002200: HP_0001891
RO_0002200: HP_0002019
RO_0002200: HP_0002076
RO_0002200: HP_0002196
RO_0002200: HP_0002607
RO_0002200: HP_0003474
RO_0002200: HP_0003493
RO_0002200: HP_0006983
RO_0002200: HP_0007377
RO_0002200: HP_0010873
RO_0002200: HP_0011675
RO_0002200: HP_0012079
RO_0002200: HP_0030057
RO_0002200: HP_0100828
category: OntologyClass
category: NamedThing

MONARCH:c000032
type: Person
GENO_0000222: MONARCH:c000032 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000481
RO_0002200: HP_0003390
RO_0002200: HP_0006858
RO_0002200: HP_0007002
category: OntologyClass
category: NamedThing

MONARCH:c000033
type: Person
GENO_0000222: MONARCH:c000033 genotype
RO_0002200: DOID 4
RO_0002200: HP_0001256
RO_0002200: HP_0002194
RO_0002200: HP_0003325
RO_0002200: HP_0003487
RO_0002200: HP_0007018
category: OntologyClass
category: NamedThing

MONARCH:c000034
type: Person
GENO_0000222: MONARCH:c000034 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000020
RO_0002200: HP_0000750
RO_0002200: HP_0000938
RO_0002200: HP_0001257
RO_0002200: HP_0001263
RO_0002200: HP_0001332
RO_0002200: HP_0001634
RO_0002200: HP_0001762
RO_0002200: HP_0002194
RO_0002200: HP_0002650
RO_0002200: HP_0009816
RO_0002200: HP_0009824
RO_0002200: HP_0010862
RO_0002200: HP_0010864
category: OntologyClass
category: NamedThing

MONARCH:c000035
type: Person
GENO_0000222: MONARCH:c000035 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000708
RO_0002200: HP_0000717
RO_0002200: HP_0000722
RO_0002200: HP_0000729
RO_0002200: HP_0000739
RO_0002200: HP_0000750
RO_0002200: HP_0001328
RO_0002200: HP_0003737
RO_0002200: HP_0005263
RO_0002200: HP_0012395
RO_0002200: HP_0012446
category: OntologyClass
category: NamedThing

MONARCH:c000036
type: Person
RO_0002200: DOID 4
RO_0002200: HP_0000622
RO_0002200: HP_0001257
RO_0002200: HP_0001824
RO_0002200: HP_0002127
RO_0002200: HP_0002315
RO_0002200: HP_0002362
RO_0002200: HP_0002829
RO_0002200: HP_0003202
RO_0002200: HP_0003487
RO_0002200: HP_0003722
RO_0002200: HP_0006801
RO_0002200: HP_0006938
RO_0002200: HP_0010833
RO_0002200: HP_0011446
RO_0002200: HP_0011448
RO_0002200: HP_0012378
RO_0002200: HP_0012473
RO_0002200: HP_0012532
category: OntologyClass
category: NamedThing

MONARCH:c000037
type: Person
GENO_0000222: MONARCH:c000037 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000020
RO_0002200: HP_0000081
RO_0002200: HP_0000154
RO_0002200: HP_0000194
RO_0002200: HP_0000218
RO_0002200: HP_0000255
RO_0002200: HP_0000286
RO_0002200: HP_0000322
RO_0002200: HP_0000365
RO_0002200: HP_0000368
RO_0002200: HP_0000403
RO_0002200: HP_0000455
RO_0002200: HP_0000540
RO_0002200: HP_0000582
RO_0002200: HP_0000670
RO_0002200: HP_0000938
RO_0002200: HP_0000960
RO_0002200: HP_0001047
RO_0002200: HP_0001134
RO_0002200: HP_0001187
RO_0002200: HP_0001249
RO_0002200: HP_0001263
RO_0002200: HP_0001530
RO_0002200: HP_0001558
RO_0002200: HP_0001609
RO_0002200: HP_0001650
RO_0002200: HP_0001653
RO_0002200: HP_0001763
RO_0002200: HP_0001787
RO_0002200: HP_0001822
RO_0002200: HP_0002020
RO_0002200: HP_0002090
RO_0002200: HP_0002099
RO_0002200: HP_0002123
RO_0002200: HP_0002136
RO_0002200: HP_0002144
RO_0002200: HP_0002282
RO_0002200: HP_0002392
RO_0002200: HP_0002423
RO_0002200: HP_0002538
RO_0002200: HP_0002607
RO_0002200: HP_0002738
RO_0002200: HP_0002757
RO_0002200: HP_0002761
RO_0002200: HP_0002783
RO_0002200: HP_0002870
RO_0002200: HP_0002880
RO_0002200: HP_0002938
RO_0002200: HP_0003799
RO_0002200: HP_0004322
RO_0002200: HP_0004466
RO_0002200: HP_0005280
RO_0002200: HP_0006313
RO_0002200: HP_0006530
RO_0002200: HP_0006863
RO_0002200: HP_0006956
RO_0002200: HP_0007074
RO_0002200: HP_0007361
RO_0002200: HP_0007503
RO_0002200: HP_0008872
RO_0002200: HP_0008936
RO_0002200: HP_0009123
RO_0002200: HP_0009890
RO_0002200: HP_0010034
RO_0002200: HP_0010047
RO_0002200: HP_0010485
RO_0002200: HP_0011124
RO_0002200: HP_0011352
RO_0002200: HP_0011437
RO_0002200: HP_0011441
RO_0002200: HP_0011452
RO_0002200: HP_0011703
RO_0002200: HP_0011800
RO_0002200: HP_0012188
RO_0002200: HP_0012395
RO_0002200: HP_0012450

MONARCH:c000038
type: Person
GENO_0000222: MONARCH:c000038 genotype
RO_0002200: DOID 4
RO_0002200: HP_0000089
RO_0002200: HP_0000138
RO_0002200: HP_0000646
RO_0002200: HP_0000739
RO_0002200: HP_0000762
RO_0002200: HP_0001227
RO_0002200: HP_0001324
RO_0002200: HP_0002136
RO_0002200: HP_0002321
RO_0002200: HP_0002355
RO_0002200: HP_0002366
RO_0002200: HP_0002450
RO_0002200: HP_0002460
RO_0002200: HP_0002522
RO_0002200: HP_0002936
RO_0002200: HP_0003376
RO_0002200: HP_0003457
RO_0002200: HP_0003551
RO_0002200: HP_0003552
RO_0002200: HP_0004303
RO_0002200: HP_0007002
RO_0002200: HP_0007267
RO_0002200: HP_0008366
RO_0002200: HP_0008944
RO_0002200: HP_0012391
RO_0002200: HP_0012805
RO_0002200: HP_0040083
RO_0002200: HP_0100304
category: OntologyClass
category: NamedThing

hg19chr11:g.111635566C>T
type: SO_0001059
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr12(CACNA1C):g.2675627G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/775
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000011 genotype
type: GENO_0000000
GENO_0000382: chr1(CHML):g.241799045
GENO_0000382: hg19chr6(KLC4):g.43039337G>A
GENO_0000382: hg19chr6(KLC4):g.43034797C>G
GENO_0000382: hg19chr12(FBXO21):g.117595754C>T
GENO_0000382: hg19chr17(UBTF):g.42290219C>T
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr19(CAPN12):g.39224811G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/147968
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr16(WDR59):g.74949784C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/79726
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chrX(DRP2):g.100490948C>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/1821
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000018 genotype
type: GENO_0000000
GENO_0000382: variant of interest in SLC26A9 gene of patient MONARCH:c000018
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chrX(PNCK):g.152936030G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/139728
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr22:g.50648641A>G
type: SO_0001059
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000030 genotype
type: GENO_0000000
GENO_0000382: hg19chr6(MDC1):g.30671813G>A
GENO_0000382: hg19chr9(GBA2):g.35744354C>G
GENO_0000382: hg19chr1(HSPG2):g.22217095C>T
GENO_0000382: hg19chr6(MDC1):g.30681077G>T
GENO_0000382: hg19chr9(GBA2):g.35738146C>T
GENO_0000382: hg19chr1(HSPG2):g.22202483G>A
GENO_0000382: hg19chr6(LAMA2):g.129513837A>G
GENO_0000382: hg19chr6(LAMA2):g.129601217C>T
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr1(FBXO44):g.11718797G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/93611
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000007 genotype
type: GENO_0000000
GENO_0000382: hg19chr2(NEB):g.152382680C>T
GENO_0000382: hg19chr14(NID2):g.52473372T>C
GENO_0000382: hg19chr2(NEB):g.152514505C>T
GENO_0000382: hg19chr14(NID2):g.52507491C>A
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr13(CUL4A):g.113887643C>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/8451
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

chr1(CHML):g.241799045
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/1122
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

chr16(SEZ6L2):g.C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/26470
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr6(KLC4):g.43039337G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/89953
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr1(USH2A):g.216462627C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/7399
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr4(SH3TC1):g.8229378C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/54436
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr10(DLG5):g.79601797C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/9231
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000028 genotype
type: GENO_0000000
GENO_0000382: hg19chr12(PITPNM2):g.123481962C>T
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

MONARCH:c000025 genotype
type: GENO_0000000
GENO_0000382: hg19chr4(SH3TC1):g.8229378C>T
GENO_0000382: hg19chr20(HSPA12B):g.3725553T>C
GENO_0000382: hg19chr4(SH3TC1):g.8239303C>T
GENO_0000382: hg19chr20(HSPA12B):g.3730394C>T
GENO_0000382: hg19chr9(SMARCA2):g.2032980T>A
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr19(HIF3A):g.46807297A>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/64344
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr6(MDC1):g.30671813G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/9656
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr4(WHSC1):g.1980582delGAAGGG
type: SO_0001059
GENO_0000418: FBog0000384493
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr7(INTS1):g.1543538C>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/26173
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000034 genotype
type: GENO_0000000
GENO_0000382: hg19chr17(UBTF):g.42290219C>T
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chrX(KDM5C):g.53227930delC
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/8242
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr8(UBE2V2):g.48962462A>C
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/7336
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

chrX(AKAP14):g.119030229C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/158798
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr20(HSPA12B):g.3725553T>C
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/116835
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr9(GBA2):g.35744354C>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/57704
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000031 genotype
type: GENO_0000000
GENO_0000382: hg19chr1(USH2A):g.216462627C>T
GENO_0000382: hg19chr1(USH2A):g.216363571C>T
GENO_0000382: hg19chr1(USH2A):g.215848910G>A
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr1(HSPG2):g.22217095C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/3339
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr1(SLFNL1):g.41483043G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/200172
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000019 genotype
type: GENO_0000000
GENO_0000382: hg19chr11:g.111635566C>T
GENO_0000382: hg19chr11:g.111624270T>C
GENO_0000382: hg19chr6(TEAD3):g.35443237C>T
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

MONARCH:c000005 genotype
type: GENO_0000000
GENO_0000382: hg19chr13(CUL4A):g.113887643C>G
GENO_0000382: hg19chrX(KDM5C):g.53227930delC
GENO_0000382: hg19chr13(FRY):g.32747554C>G
GENO_0000382: hg19chr13(CUL4A):g.113893834C>T
GENO_0000382: hg19chrX(LRCH2):g.114400457T>G
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr19(FCGBP):g.40366117C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/8857
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr2(NEB):g.152382680C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/4703
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

variant of interest in DNAH2 gene of patient MONARCH:c000026
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/146754
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr12(CACNA1C):g.2800220A>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/775
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr4(SH3TC1):g.8239303C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/54436
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr1(TENM4):g.78383218C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/26011
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chrX(NR0B1):g.30326676C>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/190
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr2(CALCRL):g.188211027A>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/10203
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr5(SLC12A2):g.ATGTCTGGTGGC>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/6558
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr3(KIAA2018):g.113378610G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/205717
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr18:g.11066134G>A
type: SO_0001059
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr13(FRY):g.32747554C>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/10129
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000020 genotype
type: GENO_0000000
GENO_0000382: hg19chrX(PLXNB3):g.153040229G>C
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr22(CCT8L2):g.17073232G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/150160
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr19(FCGBP):g.40384083G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/8857
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr1(HSPG2):g.22204731C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/3339
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr6(MDC1):g.30681077G>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/9656
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr6(ARID1B):g.157517404delT
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/57492
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr1(USH2A):g.216363571C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/7399
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr13(CUL4A):g.113893834C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/8451
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr12(SLC41A2):g.C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/84102
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr7(GNB2):g.100275036A>C
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/2783
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr1(NUP210L):g.154113976C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/91181
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000010 genotype
type: GENO_0000000
GENO_0000382: hg19chr7(COL28A1):g.7571257A>G
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr11:g.111624270T>C
type: SO_0001059
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr1(USH2A):g.215848910G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/7399
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr14(NID2):g.52473372T>C
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/22795
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

variant of interest in SLC26A9 gene of patient MONARCH:c000018
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/115019
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chrX(TBL1X):g.9660256G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/6907
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000035 genotype
type: GENO_0000000
GENO_0000382: hg19chr1(TENM4):g.78383218C>T
GENO_0000382: hg19chr1(TENM4):g.78381352T>C
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr9(DNAJB5):g.34997123G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/25822
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr19(ZNF235):g.44792272C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/9310
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr1(SLC9A1):g.27432470G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/6548
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000008 genotype
type: GENO_0000000
GENO_0000382: hg19chr22:g.50648641A>G
GENO_0000382: hg19chr19(ZNF235):g.44792272C>T
GENO_0000382: hg19chr3(NBEAL2):g.47042666G>A
GENO_0000382: hg19chr22:g.50647038G>A
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chrX(SHROOM2):g.9905262C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/357
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr6(KLC4):g.43034797C>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/89953
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000017 genotype
type: GENO_0000000
GENO_0000382: hg19chr5(SLC12A2):g.ATGTCTGGTGGC>A
GENO_0000382: hg19chr21(PCNT):g.47817316G>A
GENO_0000382: hg19chr21(PCNT):g.47852019C>T
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr20(LAMA5):g.60921585A>C
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/3911
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr3(KIAA2018):g.113375764G>C
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/205717
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000002 genotype
type: GENO_0000000
GENO_0000382: hg19chrX(PNCK):g.152936030G>A
GENO_0000382: chrX(AKAP14):g.119030229C>T
GENO_0000382: hg19chr6(ARID1B):g.157517404delT
GENO_0000382: hg19chr20(LAMA5):g.60921585A>C
GENO_0000382: hg19chr1(NBPF8):g.148252063C>T
GENO_0000382: hg19chr1(CROCC):g.17265495G>C
GENO_0000382: hg19chr7(ELN):g.73482987G>A
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

MONARCH:c000029 genotype
type: GENO_0000000
GENO_0000382: hg19chr7(GRB10):g.50672008C>T
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

MONARCH:c000032 genotype
type: GENO_0000000
GENO_0000382: hg19chr19(CAPN12):g.39224811G>A
GENO_0000382: hg19chrX(DRP2):g.100490948C>G
GENO_0000382: hg19chrX(NR0B1):g.30326676C>G
GENO_0000382: hg19chr19(CAPN12):g.39229227G>A
GENO_0000382: hg19chrX(HYPM):g.37850340A>G
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr1(IARS2):g.220315177G>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/55699
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

variant of interest in VWA5B2 gene of patient MONARCH:c000026
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/90113
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr20(HSPA12B):g.3730394C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/116835
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr1(TENM4):g.78381352T>C
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/26011
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr3(NBEAL2):g.47042666G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/23218
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000027 genotype
type: GENO_0000000
GENO_0000382: hg19chr2(CALCRL):g.188211027A>G
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr6(TEAD3):g.35443237C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/7005
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chrX(LRCH2):g.114400457T>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/57631
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000001 genotype
type: GENO_0000000
GENO_0000382: hg19chr19(HIF3A):g.46807297A>G
GENO_0000382: hg19chr1(NUP210L):g.154113976C>T
GENO_0000382: hg19chr1(NUP210L):g.154018655C>T
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

MONARCH:c000024 genotype
type: GENO_0000000
GENO_0000382: hg19chr16(WDR59):g.74949784C>T
GENO_0000382: hg19chr7(INTS1):g.1543538C>G
GENO_0000382: hg19chr15(GOLGA6L1):g.22743380G>T
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr7(UPP1):g.48142921A>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/7378
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

variant of interest in ADRA1A gene of patient MONARCH:c000015
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/148
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr19(CAPN12):g.39229227G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/147968
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr9(GBA2):g.35738146C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/57704
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr2(NEB):g.152514505C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/4703
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr10(DLG5):g.79566664C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/9231
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000037 genotype
type: GENO_0000000
GENO_0000382: hg19chr1(SLFNL1):g.41483043G>A
GENO_0000382: hg19chr3(KIAA2018):g.113378610G>A
GENO_0000382: hg19chr7(GNB2):g.100275036A>C
GENO_0000382: hg19chr3(KIAA2018):g.113375764G>C
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

MONARCH:c000012 genotype
type: GENO_0000000
GENO_0000382: hg19chr20(ZBTB46):g.A>G
GENO_0000382: chr16(TIGD7):g.T>C
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

variant of interest in SLC26A9 gene of patient MONARCH:c000018
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/115019
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000009 genotype
type: GENO_0000000
GENO_0000382: hg19chr1(HSPG2):g.22204731C>T
GENO_0000382: hg19chr1(IARS2):g.220315177G>T
GENO_0000382: hg19chr1(HSPG2):g.22202483G>A
GENO_0000382: hg19chr4(NFXL1):g.47887938C>T
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chrX(STARD8):g.67940901C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/9754
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr14(NID2):g.52507491C>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/22795
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr18:g.10794948G>A
type: SO_0001059
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr7(COL28A1):g.7571257A>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/340267
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr4(NFXL1):g.47887938C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/152518
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr20(ZBTB46):g.A>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/140685
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr22:g.50647038G>A
type: SO_0001059
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000003 genotype
type: GENO_0000000
GENO_0000382: hg19chr12(SLC41A2):g.C>T
GENO_0000382: chr11(SIK3):g.A>T
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr1(FBXO44):g.11718390G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/93611
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr1(NBPF8):g.148252063C>T
type: SO_0001059
GENO_0000418: FBog0000460125
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chrX(HYPM):g.37850340A>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/25763
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr21(PCNT):g.47817316G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/5116
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr15(GOLGA6L1):g.22743380G>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/283767
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr9(SMARCA2):g.2032980T>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/6595
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000015 genotype
type: GENO_0000000
GENO_0000382: chr16(SEZ6L2):g.C>T
GENO_0000382: hg19chr18:g.11066134G>A
GENO_0000382: variant of interest in ADRA1A gene of patient MONARCH:c000015
GENO_0000382: hg19chrX(STARD8):g.67940901C>T
GENO_0000382: hg19chr18:g.10794948G>A
GENO_0000382: hg19chr18:g.10761048T>C
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

chr16(TIGD7):g.T>C
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/91151
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000006 genotype
type: GENO_0000000
GENO_0000382: hg19chr10(DLG5):g.79601797C>T
GENO_0000382: hg19chr10(DLG5):g.79566664C>T
GENO_0000382: variant of interest in FAT3 gene of patient MONARCH:c000006
GENO_0000382: hg19chr6(CTAGE9):g.132031233C>A
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr6(LAMA2):g.129513837A>G
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/3908
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr18:g.10761048T>C
type: SO_0001059
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

chr11(SIK3):g.A>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/23387
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr4(WHSC1):g.1961360G>A
type: SO_0001059
GENO_0000418: FBog0000384493
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

variant of interest in FAT3 gene of patient MONARCH:c000006
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/120114
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr12(FAM109A):g.111801216G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/144717
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr22(CCT8L2):g.17072411G>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/150160
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr21(PCNT):g.47852019C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/5116
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr1(CROCC):g.17265495G>C
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/9696
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr1(NUP210L):g.154018655C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/91181
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000038 genotype
type: GENO_0000000
GENO_0000382: hg19chr12(CACNA1C):g.2675627G>A
GENO_0000382: hg19chr12(CACNA1C):g.2800220A>G
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

MONARCH:c000033 genotype
type: GENO_0000000
GENO_0000382: hg19chrX(TBL1X):g.9660256G>A
GENO_0000382: hg19chrX(SHROOM2):g.9905262C>T
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

MONARCH:c000016 genotype
type: GENO_0000000
GENO_0000382: hg19chr8(UBE2V2):g.48962462A>C
GENO_0000382: hg19chr22(CCT8L2):g.17073232G>A
GENO_0000382: hg19chr22(CCT8L2):g.17072411G>T
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr12(FBXO21):g.117595754C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/23014
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr12(PITPNM2):g.123481962C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/57605
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

variant of interest in FAT3 gene of patient MONARCH:c000006
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/120114
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr6(CTAGE9):g.132031233C>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/643854
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000023 genotype
type: GENO_0000000
GENO_0000382: hg19chr1(FBXO44):g.11718797G>A
GENO_0000382: hg19chr4(WHSC1):g.1980582delGAAGGG
GENO_0000382: hg19chr19(FCGBP):g.40366117C>T
GENO_0000382: hg19chr19(FCGBP):g.40384083G>A
GENO_0000382: hg19chr1(FBXO44):g.11718390G>A
GENO_0000382: hg19chr4(WHSC1):g.1961360G>A
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr8(CSGALNACT1):g.19539991C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/55790
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr7(GRB10):g.50672008C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/2887
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000026 genotype
type: GENO_0000000
GENO_0000382: variant of interest in DNAH2 gene of patient MONARCH:c000026
GENO_0000382: hg19chr9(DNAJB5):g.34997123G>A
GENO_0000382: variant of interest in VWA5B2 gene of patient MONARCH:c000026
GENO_0000382: hg19chr7(UPP1):g.48142921A>G
GENO_0000382: hg19chr12(FAM109A):g.111801216G>A
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

variant of interest in ADRA1A gene of patient MONARCH:c000015
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/148
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chrX(PLXNB3):g.153040229G>C
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/5365
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

MONARCH:c000021 genotype
type: GENO_0000000
GENO_0000382: hg19chr1(SLC9A1):g.27432470G>A
GENO_0000382: hg19chr8(CSGALNACT1):g.19539991C>T
category: GenomicEntity
category: OntologyClass
category: Genotype
category: NamedThing
category: InformationContentEntity

hg19chr6(LAMA2):g.129601217C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/3908
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr7(ELN):g.73482987G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/2006
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr1(HSPG2):g.22202483G>A
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/3339
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant

hg19chr17(UBTF):g.42290219C>T
type: SO_0001059
GENO_0000418: http://www.ncbi.nlm.nih.gov/gene/7343
RO_0002162: NCBITaxon 9606
category: GenomicEntity
category: NucleicAcidEntity
category: OntologyClass
category: NamedThing
category: SequenceVariant