-
Notifications
You must be signed in to change notification settings - Fork 13
/
ExFactor Ontology release notes.txt
2478 lines (1991 loc) · 162 KB
/
ExFactor Ontology release notes.txt
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
79
80
81
82
83
84
85
86
87
88
89
90
91
92
93
94
95
96
97
98
99
100
101
102
103
104
105
106
107
108
109
110
111
112
113
114
115
116
117
118
119
120
121
122
123
124
125
126
127
128
129
130
131
132
133
134
135
136
137
138
139
140
141
142
143
144
145
146
147
148
149
150
151
152
153
154
155
156
157
158
159
160
161
162
163
164
165
166
167
168
169
170
171
172
173
174
175
176
177
178
179
180
181
182
183
184
185
186
187
188
189
190
191
192
193
194
195
196
197
198
199
200
201
202
203
204
205
206
207
208
209
210
211
212
213
214
215
216
217
218
219
220
221
222
223
224
225
226
227
228
229
230
231
232
233
234
235
236
237
238
239
240
241
242
243
244
245
246
247
248
249
250
251
252
253
254
255
256
257
258
259
260
261
262
263
264
265
266
267
268
269
270
271
272
273
274
275
276
277
278
279
280
281
282
283
284
285
286
287
288
289
290
291
292
293
294
295
296
297
298
299
300
301
302
303
304
305
306
307
308
309
310
311
312
313
314
315
316
317
318
319
320
321
322
323
324
325
326
327
328
329
330
331
332
333
334
335
336
337
338
339
340
341
342
343
344
345
346
347
348
349
350
351
352
353
354
355
356
357
358
359
360
361
362
363
364
365
366
367
368
369
370
371
372
373
374
375
376
377
378
379
380
381
382
383
384
385
386
387
388
389
390
391
392
393
394
395
396
397
398
399
400
401
402
403
404
405
406
407
408
409
410
411
412
413
414
415
416
417
418
419
420
421
422
423
424
425
426
427
428
429
430
431
432
433
434
435
436
437
438
439
440
441
442
443
444
445
446
447
448
449
450
451
452
453
454
455
456
457
458
459
460
461
462
463
464
465
466
467
468
469
470
471
472
473
474
475
476
477
478
479
480
481
482
483
484
485
486
487
488
489
490
491
492
493
494
495
496
497
498
499
500
501
502
503
504
505
506
507
508
509
510
511
512
513
514
515
516
517
518
519
520
521
522
523
524
525
526
527
528
529
530
531
532
533
534
535
536
537
538
539
540
541
542
543
544
545
546
547
548
549
550
551
552
553
554
555
556
557
558
559
560
561
562
563
564
565
566
567
568
569
570
571
572
573
574
575
576
577
578
579
580
581
582
583
584
585
586
587
588
589
590
591
592
593
594
595
596
597
598
599
600
601
602
603
604
605
606
607
608
609
610
611
612
613
614
615
616
617
618
619
620
621
622
623
624
625
626
627
628
629
630
631
632
633
634
635
636
637
638
639
640
641
642
643
644
645
646
647
648
649
650
651
652
653
654
655
656
657
658
659
660
661
662
663
664
665
666
667
668
669
670
671
672
673
674
675
676
677
678
679
680
681
682
683
684
685
686
687
688
689
690
691
692
693
694
695
696
697
698
699
700
701
702
703
704
705
706
707
708
709
710
711
712
713
714
715
716
717
718
719
720
721
722
723
724
725
726
727
728
729
730
731
732
733
734
735
736
737
738
739
740
741
742
743
744
745
746
747
748
749
750
751
752
753
754
755
756
757
758
759
760
761
762
763
764
765
766
767
768
769
770
771
772
773
774
775
776
777
778
779
780
781
782
783
784
785
786
787
788
789
790
791
792
793
794
795
796
797
798
799
800
801
802
803
804
805
806
807
808
809
810
811
812
813
814
815
816
817
818
819
820
821
822
823
824
825
826
827
828
829
830
831
832
833
834
835
836
837
838
839
840
841
842
843
844
845
846
847
848
849
850
851
852
853
854
855
856
857
858
859
860
861
862
863
864
865
866
867
868
869
870
871
872
873
874
875
876
877
878
879
880
881
882
883
884
885
886
887
888
889
890
891
892
893
894
895
896
897
898
899
900
901
902
903
904
905
906
907
908
909
910
911
912
913
914
915
916
917
918
919
920
921
922
923
924
925
926
927
928
929
930
931
932
933
934
935
936
937
938
939
940
941
942
943
944
945
946
947
948
949
950
951
952
953
954
955
956
957
958
959
960
961
962
963
964
965
966
967
968
969
970
971
972
973
974
975
976
977
978
979
980
981
982
983
984
985
986
987
988
989
990
991
992
993
994
995
996
997
998
999
1000
___ ___ ___
/\__\ /\__\ /\ \
/:/ _/_ /:/ _/_ /::\ \
/:/ /\__\ /:/ /\__\ /:/\:\ \
/:/ /:/ _/_ /:/ /:/ / /:/ \:\ \
/:/_/:/ /\__\ /:/_/:/ / /:/__/ \:\__\
\:\/:/ /:/ / \:\/:/ / \:\ \ /:/ /
\::/_/:/ / \::/__/ \:\ /:/ /
\:\/:/ / \:\ \ \:\/:/ /
\::/ / \:\__\ \::/ /
\/__/ \/__/ \/__/
EFO - Release Notes
Experimental Factor Ontology version 3.73.0
Date Released: 16th December 2024
Class Count: 57,878
Summary:
EFO 3.73.0 includes further alignments between EFO and MONDO as well as terms required for Open Targets projects, HCA, Array Express/Expression Atlas and the GWAS Catalog.
Number of classes changed: 386
Number of classes added: 69
Number of classes deleted: 6
----------------------------------
1. Changes to URIs
2. Changes to EFO
3. Obsolete Classes in EFO
4. Scope of the Ontology
5. External Ontology and Resource Mapping List
6. Known OWL to OBO Conversion Issues
7. Contact Details
----------------------------------
1. Changes to URIs
@Classes new to this version
Class: http://purl.obolibrary.org/obo/MONDO_0035838
Label(s): idiopathic multicentric Castleman disease
+ 'idiopathic multicentric Castleman disease' SubClassOf 'Castleman disease'
Class: http://purl.obolibrary.org/obo/MONDO_0007568
Label(s): aortic aneurysm, familial thoracic 4
+ 'aortic aneurysm, familial thoracic 4' SubClassOf 'familial thoracic aortic aneurysm and aortic dissection'
Class: http://purl.obolibrary.org/obo/MONDO_0012371
Label(s): Noonan syndrome 3
+ 'Noonan syndrome 3' SubClassOf 'Noonan syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0007273
Label(s): paragangliomas 4
+ 'paragangliomas 4' SubClassOf 'peripheral nervous system cancer'
+ 'paragangliomas 4' SubClassOf 'central nervous system cancer'
+ 'paragangliomas 4' SubClassOf 'Paraganglioma'
+ 'paragangliomas 4' SubClassOf 'hereditary pheochromocytoma-paraganglioma'
+ 'paragangliomas 4' SubClassOf 'Malignant Urinary System Neoplasm'
+ 'paragangliomas 4' SubClassOf 'adrenal gland cancer'
Class: http://purl.obolibrary.org/obo/MONDO_0012291
Label(s): immunoglobulin A deficiency 2
+ 'immunoglobulin A deficiency 2' SubClassOf 'selective IgA deficiency disease'
Class: http://purl.obolibrary.org/obo/MONDO_0007094
Label(s): amelogenesis imperfecta type 1A
+ 'amelogenesis imperfecta type 1A' SubClassOf 'amelogenesis imperfecta type 1'
Class: http://purl.obolibrary.org/obo/MONDO_0007087
Label(s): alternating hemiplegia of childhood 1
+ 'alternating hemiplegia of childhood 1' SubClassOf 'alternating hemiplegia of childhood'
Class: http://purl.obolibrary.org/obo/PR_000009888
Label(s): apolipoprotein(a)
+ 'apolipoprotein(a)' SubClassOf 'protein'
Class: http://purl.obolibrary.org/obo/MONDO_1040001
Label(s): TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations
+ 'TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations' SubClassOf 'developmental defect during embryogenesis'
+ 'TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations' SubClassOf 'genetic disorder'
Class: http://purl.obolibrary.org/obo/MONDO_1040022
Label(s): linkeropathy
+ 'linkeropathy' SubClassOf 'syndromic disease'
+ 'linkeropathy' SubClassOf 'osteochondrodysplasia'
+ 'linkeropathy' SubClassOf 'connective tissue disease'
Class: http://purl.obolibrary.org/obo/MONDO_0020607
Label(s): Liddle syndrome 1
+ 'Liddle syndrome 1' SubClassOf 'Liddle syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0700227
Label(s): ELOVL4-related maculopathy
+ 'ELOVL4-related maculopathy' SubClassOf 'inherited retinal dystrophy'
Class: http://purl.obolibrary.org/obo/MONDO_0004390
Label(s): ocular hypotension
+ 'ocular hypotension' SubClassOf 'eye disease'
Class: http://purl.obolibrary.org/obo/MONDO_0014926
Label(s): Bardet-Biedl syndrome 22
+ 'Bardet-Biedl syndrome 22' SubClassOf 'Bardet-Biedl syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0014840
Label(s): agammaglobulinemia 8, autosomal dominant
+ 'agammaglobulinemia 8, autosomal dominant' SubClassOf 'autosomal agammaglobulinemia'
Class: http://purl.obolibrary.org/obo/MONDO_0014705
Label(s): craniosynostosis 6
+ 'craniosynostosis 6' SubClassOf 'isolated oxycephaly'
Class: http://purl.obolibrary.org/obo/MONDO_0014685
Label(s): progressive myoclonic epilepsy type 9
+ 'progressive myoclonic epilepsy type 9' SubClassOf 'progressive myoclonus epilepsy'
Class: http://purl.obolibrary.org/obo/MONDO_0014565
Label(s): cataract 43
+ 'cataract 43' SubClassOf 'early-onset non-syndromic cataract'
Class: http://purl.obolibrary.org/obo/OBA_VT0000277
Label(s): heart shape trait
+ 'heart shape trait' SubClassOf 'phenotype'
+ 'heart shape trait' SubClassOf 'characteristic of' some 'anatomical entity'
Class: http://purl.obolibrary.org/obo/MONDO_0009454
Label(s): immunodeficiency-centromeric instability-facial anomalies syndrome 1
+ 'immunodeficiency-centromeric instability-facial anomalies syndrome 1' SubClassOf 'immunodeficiency-centromeric instability-facial anomalies syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0014381
Label(s): cholestasis, progressive familial intrahepatic, 4
+ 'cholestasis, progressive familial intrahepatic, 4' SubClassOf 'progressive familial intrahepatic cholestasis'
Class: http://purl.obolibrary.org/obo/MONDO_0014359
Label(s): pigmented nodular adrenocortical disease, primary, 4
+ 'pigmented nodular adrenocortical disease, primary, 4' SubClassOf 'primary pigmented nodular adrenocortical disease'
Class: http://purl.obolibrary.org/obo/MONDO_0014344
Label(s): congenital heart defects, multiple types, 4
+ 'congenital heart defects, multiple types, 4' SubClassOf 'congenital heart defects, multiple types'
+ 'congenital heart defects, multiple types, 4' SubClassOf 'familial atrioventricular septal defect'
Class: http://purl.obolibrary.org/obo/MONDO_0014321
Label(s): premature ovarian failure 8
+ 'premature ovarian failure 8' SubClassOf 'inherited primary ovarian failure'
Class: http://purl.obolibrary.org/obo/MONDO_0012614
Label(s): intellectual disability, autosomal recessive 6
+ 'intellectual disability, autosomal recessive 6' SubClassOf 'autosomal recessive non-syndromic intellectual disability'
Class: http://purl.obolibrary.org/obo/MONDO_0014199
Label(s): developmental and epileptic encephalopathy, 17
+ 'developmental and epileptic encephalopathy, 17' SubClassOf 'developmental and epileptic encephalopathy'
Class: http://purl.obolibrary.org/obo/MONDO_0014155
Label(s): atrial fibrillation, familial, 13
+ 'atrial fibrillation, familial, 13' SubClassOf 'familial atrial fibrillation'
Class: http://purl.obolibrary.org/obo/MONDO_0014113
Label(s): cardiofaciocutaneous syndrome 3
+ 'cardiofaciocutaneous syndrome 3' SubClassOf 'cardiofaciocutaneous syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0014112
Label(s): cardiofaciocutaneous syndrome 2
+ 'cardiofaciocutaneous syndrome 2' SubClassOf 'cardiofaciocutaneous syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0014092
Label(s): schizophrenia 18
+ 'schizophrenia 18' SubClassOf 'schizophrenia, susceptibility to'
Class: http://purl.obolibrary.org/obo/MONDO_0011904
Label(s): seizures, benign familial infantile, 3
+ 'seizures, benign familial infantile, 3' SubClassOf 'benign familial infantile epilepsy'
Class: http://purl.obolibrary.org/obo/MONDO_0012835
Label(s): systemic lupus erythematosus, susceptibility to, 11
+ 'systemic lupus erythematosus, susceptibility to, 11' SubClassOf 'inherited disease susceptibility'
+ 'systemic lupus erythematosus, susceptibility to, 11' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus'
Class: http://purl.obolibrary.org/obo/MONDO_0100574
Label(s): generalized epilepsy
+ 'generalized epilepsy' SubClassOf 'epilepsy'
Class: http://purl.obolibrary.org/obo/MONDO_0100573
Label(s): combined generalized and focal epilepsy
+ 'combined generalized and focal epilepsy' EquivalentTo 'generalized epilepsy' and 'partial epilepsy'
+ 'combined generalized and focal epilepsy' SubClassOf 'partial epilepsy'
+ 'combined generalized and focal epilepsy' SubClassOf 'generalized epilepsy'
Class: http://purl.obolibrary.org/obo/MONDO_0007919
Label(s): lymphatic malformation 1
+ 'lymphatic malformation 1' SubClassOf 'lymphatic malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0100476
Label(s): lipodystrophy, partial, acquired, susceptibility to
+ 'lipodystrophy, partial, acquired, susceptibility to' SubClassOf 'inherited disease susceptibility'
+ 'lipodystrophy, partial, acquired, susceptibility to' SubClassOf 'predisposes towards' some 'acquired partial lipodystrophy'
Class: http://purl.obolibrary.org/obo/MONDO_0012430
Label(s): cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2
+ 'cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2' SubClassOf 'cerebellar ataxia, intellectual disability, and dysequilibrium'
Class: http://purl.obolibrary.org/obo/MONDO_0011232
Label(s): migraine, familial hemiplegic, 2
+ 'migraine, familial hemiplegic, 2' SubClassOf 'familial hemiplegic migraine'
Class: http://purl.obolibrary.org/obo/MONDO_1010097
Label(s): DHDDS-related syndrome
+ 'DHDDS-related syndrome' SubClassOf 'hereditary neurological disease'
Class: http://purl.obolibrary.org/obo/MONDO_1040054
Label(s): DHDDS-CDG
+ 'DHDDS-CDG' SubClassOf 'congenital disorder of glycosylation'
Class: http://purl.obolibrary.org/obo/HP_0100829
Label(s): Galactorrhea
+ 'Galactorrhea' SubClassOf 'Abnormality of the breast'
Class: http://purl.obolibrary.org/obo/MONDO_0010822
Label(s): Warburg micro syndrome 1
+ 'Warburg micro syndrome 1' SubClassOf 'Warburg micro syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0100520
Label(s): NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
+ 'NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction' SubClassOf 'syndromic disease'
+ 'NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction' SubClassOf 'endocrine system disease'
+ 'NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction' SubClassOf 'genetic disorder'
Class: http://purl.obolibrary.org/obo/MONDO_0013929
Label(s): autosomal recessive nonsyndromic hearing loss 98
+ 'autosomal recessive nonsyndromic hearing loss 98' SubClassOf 'hearing loss, autosomal recessive'
Class: http://purl.obolibrary.org/obo/MONDO_0008822
Label(s): arthrogryposis, renal dysfunction, and cholestasis 1
+ 'arthrogryposis, renal dysfunction, and cholestasis 1' SubClassOf 'arthrogryposis-renal dysfunction-cholestasis syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0033717
Label(s): congenital cerebellar ataxia due to RNU12 mutation
+ 'congenital cerebellar ataxia due to RNU12 mutation' SubClassOf 'autosomal recessive congenital cerebellar ataxia'
Class: http://purl.obolibrary.org/obo/MONDO_0013498
Label(s): schizophrenia 15
+ 'schizophrenia 15' SubClassOf 'schizophrenia'
+ 'schizophrenia 15' SubClassOf 'hereditary neurological disease'
Class: http://purl.obolibrary.org/obo/MONDO_0013468
Label(s): retinitis pigmentosa 59
+ 'retinitis pigmentosa 59' SubClassOf 'DHDDS-related syndrome'
+ 'retinitis pigmentosa 59' SubClassOf 'retinitis pigmentosa'
+ 'retinitis pigmentosa 59' SubClassOf 'congenital nervous system disorder'
+ 'retinitis pigmentosa 59' SubClassOf 'DHDDS-CDG'
Class: http://purl.obolibrary.org/obo/MONDO_0013388
Label(s): developmental and epileptic encephalopathy, 11
+ 'developmental and epileptic encephalopathy, 11' SubClassOf 'developmental and epileptic encephalopathy'
Class: http://purl.obolibrary.org/obo/MONDO_0100068
Label(s): SLC10A7-congenital disorder of glycosylation
+ 'SLC10A7-congenital disorder of glycosylation' SubClassOf 'bone disease'
+ 'SLC10A7-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation'
Class: http://purl.obolibrary.org/obo/HP_0012764
Label(s): Orthopnea
+ 'Orthopnea' SubClassOf 'Dyspnea'
Class: http://purl.obolibrary.org/obo/MONDO_0013087
Label(s): bronchiectasis with or without elevated sweat chloride 2
+ 'bronchiectasis with or without elevated sweat chloride 2' SubClassOf 'idiopathic bronchiectasis'
Class: http://purl.obolibrary.org/obo/MONDO_0013015
Label(s): Brugada syndrome 5
+ 'Brugada syndrome 5' SubClassOf 'Brugada syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0000479
Label(s): segmental dystonia
+ 'segmental dystonia' SubClassOf 'dystonic disorder'
Class: http://purl.obolibrary.org/obo/MONDO_0010607
Label(s): heterotaxy, visceral, 1, X-linked
+ 'heterotaxy, visceral, 1, X-linked' SubClassOf 'visceral heterotaxy'
Class: http://purl.obolibrary.org/obo/MONDO_0010488
Label(s): intellectual disability, X-linked 100
+ 'intellectual disability, X-linked 100' SubClassOf 'non-syndromic X-linked intellectual disability'
Class: http://purl.obolibrary.org/obo/MONDO_0010449
Label(s): autism, susceptibility to, X-linked 5
+ 'autism, susceptibility to, X-linked 5' SubClassOf 'autism, susceptiblity to'
Class: http://purl.obolibrary.org/obo/MONDO_0010238
Label(s): hearing loss, X-linked 4
+ 'hearing loss, X-linked 4' SubClassOf 'X-linked nonsyndromic hearing loss'
Class: http://purl.obolibrary.org/obo/MONDO_8000015
Label(s): 46,XY sex reversal 11
+ '46,XY sex reversal 11' SubClassOf '46,XY complete gonadal dysgenesis'
Class: http://purl.obolibrary.org/obo/OBA_2051965
Label(s): amount of apolipoprotein(a) in blood
+ 'amount of apolipoprotein(a) in blood' SubClassOf 'amount'
Class: http://purl.obolibrary.org/obo/OBA_2051964
Label(s): age of onset of isolated dystonia
+ 'age of onset of isolated dystonia' SubClassOf 'characteristic of' some 'isolated dystonia'
+ 'age of onset of isolated dystonia' SubClassOf 'age of onset of disease'
+ 'age of onset of isolated dystonia' EquivalentTo 'Onset' and ('characteristic of' some 'isolated dystonia')
Class: http://purl.obolibrary.org/obo/HP_0002591
Label(s): Polyphagia
+ 'Polyphagia' SubClassOf 'Abnormal eating behavior'
Class: http://purl.obolibrary.org/obo/MONDO_0014627
Label(s): dystonia 27
+ 'dystonia 27' SubClassOf 'segmental dystonia'
+ 'dystonia 27' SubClassOf 'focal, segmental or multifocal dystonia'
Class: http://purl.obolibrary.org/obo/OBA_2051963
Label(s): trait in response to gabapentin
+ 'trait in response to gabapentin' SubClassOf 'response to anticonvulsant'
Class: http://purl.obolibrary.org/obo/MONDO_0012878
Label(s): Cowden syndrome 2
+ 'Cowden syndrome 2' SubClassOf 'Cowden disease'
Class: http://purl.obolibrary.org/obo/MONDO_0012849
Label(s): Joubert syndrome 9
+ 'Joubert syndrome 9' SubClassOf 'Joubert syndrome'
+ 'Joubert syndrome 9' SubClassOf 'Joubert syndrome with oculorenal defect'
Class: http://purl.obolibrary.org/obo/MONDO_0012848
Label(s): Meckel syndrome, type 6
+ 'Meckel syndrome, type 6' SubClassOf 'Meckel syndrome'
+ 'Meckel syndrome, type 6' SubClassOf 'polydactyly-syndactyly-triphalangism'
Class: http://purl.obolibrary.org/obo/MONDO_0100575
Label(s): genetic generalized epilepsy
+ 'genetic generalized epilepsy' SubClassOf 'generalized epilepsy'
Class: http://purl.obolibrary.org/obo/MONDO_0100576
Label(s): hereditary generalized epilepsy
+ 'hereditary generalized epilepsy' SubClassOf 'hereditary neurological disease'
+ 'hereditary generalized epilepsy' SubClassOf 'genetic generalized epilepsy'
----------------------------------
2. Changes to EFO3
@Classes modified from previous
Class: http://purl.obolibrary.org/obo/MONDO_0012756
Label(s): proximal 16p11.2 microdeletion syndrome
- 'proximal 16p11.2 microdeletion syndrome' SubClassOf 'predisposes towards' some 'autism'
+ 'proximal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism'
Class: http://purl.obolibrary.org/obo/MONDO_0012720
Label(s): Krabbe disease due to saposin A deficiency
- 'Krabbe disease due to saposin A deficiency' SubClassOf 'disease shares features of' some 'Krabbe disease'
+ 'Krabbe disease due to saposin A deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Krabbe disease'
Class: http://purl.obolibrary.org/obo/MONDO_0002017
Label(s): olivopontocerebellar atrophy
- 'olivopontocerebellar atrophy' SubClassOf 'disease shares features of' some 'cerebellar ataxia'
+ 'olivopontocerebellar atrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'cerebellar ataxia'
Class: http://purl.obolibrary.org/obo/MONDO_0016120
Label(s): myotonic syndrome
- 'myotonic syndrome' SubClassOf 'disease has major feature' some 'Myotonia'
- 'myotonic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'Myotonia')
+ 'myotonic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Myotonia')
+ 'myotonic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Myotonia'
Class: http://purl.obolibrary.org/obo/MONDO_0012648
Label(s): isobutyryl-CoA dehydrogenase deficiency
- 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy'
+ 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy'
Class: http://purl.obolibrary.org/obo/MONDO_0007573
Label(s): erythroleukemia, familial, susceptibility to
- 'erythroleukemia, familial, susceptibility to' SubClassOf 'predisposes towards' some 'acute erythroleukemia'
+ 'erythroleukemia, familial, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'acute erythroleukemia'
Class: http://purl.obolibrary.org/obo/MONDO_0007558
Label(s): benign occipital epilepsy
- 'benign occipital epilepsy' SubClassOf 'epilepsy syndrome'
+ 'benign occipital epilepsy' SubClassOf 'childhood-onset epilepsy syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0012593
Label(s): brain-lung-thyroid syndrome
- 'brain-lung-thyroid syndrome' SubClassOf 'syndromic disease'
- 'brain-lung-thyroid syndrome' SubClassOf 'endocrine system disease'
+ 'brain-lung-thyroid syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100520
Class: http://purl.obolibrary.org/obo/MONDO_0012585
Label(s): coronary heart disease, susceptibility to, 7
- 'coronary heart disease, susceptibility to, 7' SubClassOf 'predisposes towards' some 'coronary artery disease'
+ 'coronary heart disease, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease'
Class: http://purl.obolibrary.org/obo/MONDO_0012584
Label(s): systemic lupus erythematosus, susceptibility to, 9
- 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus'
+ 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'systemic lupus erythematosus'
Class: http://purl.obolibrary.org/obo/MONDO_0012570
Label(s): body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'disease shares features of' some 'pseudoxanthoma elasticum (inherited or acquired)'
+ 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'pseudoxanthoma elasticum (inherited or acquired)'
Class: http://purl.obolibrary.org/obo/MONDO_0007495
Label(s): dystonia 5
- 'dystonia 5' SubClassOf 'disease responds to' some 'L-dopa'
+ 'dystonia 5' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'L-dopa'
Class: http://purl.obolibrary.org/obo/MONDO_0035651
Label(s): choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
- 'choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'genetic disorder'
+ 'choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'genetic disorder'
Class: http://purl.obolibrary.org/obo/MONDO_0007462
Label(s): multiple sclerosis, susceptibility to
- 'multiple sclerosis, susceptibility to' SubClassOf 'predisposes towards' some 'multiple sclerosis'
- 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'multiple sclerosis')
+ 'multiple sclerosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'multiple sclerosis'
+ 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'multiple sclerosis')
Class: http://purl.obolibrary.org/obo/MONDO_0014343
Label(s): Desbuquois dysplasia 2
+ 'Desbuquois dysplasia 2' SubClassOf 'hereditary disorder of connective tissue'
+ 'Desbuquois dysplasia 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040022
Class: http://purl.obolibrary.org/obo/MONDO_0007410
Label(s): isolated cryptophthalmia
+ 'isolated cryptophthalmia' SubClassOf 'genetic disorder'
Class: http://purl.obolibrary.org/obo/MONDO_0007401
Label(s): craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
- 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0012488
Label(s): hepatitis B virus, susceptibility to
- 'hepatitis B virus, susceptibility to' SubClassOf 'predisposes towards' some 'genetic disorder'
+ 'hepatitis B virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'genetic disorder'
Class: http://purl.obolibrary.org/obo/MONDO_0012482
Label(s): West Nile virus, susceptibility to
- 'West Nile virus, susceptibility to' SubClassOf 'predisposes towards' some 'West Nile encephalitis'
+ 'West Nile virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'West Nile encephalitis'
Class: http://purl.obolibrary.org/obo/MONDO_0012466
Label(s): Parkinson disease 13, autosomal dominant, susceptibility to
- 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease'
+ 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Parkinson disease'
Class: http://purl.obolibrary.org/obo/MONDO_0012456
Label(s): congenital primary aphakia
- 'congenital primary aphakia' SubClassOf 'disease has major feature' some 'Congenital aphakia'
+ 'congenital primary aphakia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Congenital aphakia'
Class: http://purl.obolibrary.org/obo/MONDO_0009335
Label(s): hemolytic uremic syndrome, atypical, susceptibility to, 1
- 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf 'predisposes towards' some 'atypical hemolytic-uremic syndrome'
+ 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'atypical hemolytic-uremic syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0012435
Label(s): 3-methylglutaconic aciduria type 5
- '3-methylglutaconic aciduria type 5' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy'
+ '3-methylglutaconic aciduria type 5' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy'
Class: http://purl.obolibrary.org/obo/MONDO_0012407
Label(s): pyridoxal phosphate-responsive seizures
- 'pyridoxal phosphate-responsive seizures' SubClassOf 'disease responds to' some 'pyridoxal 5'-phosphate'
- 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and ('disease responds to' some 'pyridoxal 5'-phosphate')
+ 'pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'pyridoxal 5'-phosphate'
+ 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'pyridoxal 5'-phosphate')
Class: http://purl.obolibrary.org/obo/MONDO_0012402
Label(s): opioid dependence, susceptibility to, 1
- 'opioid dependence, susceptibility to, 1' SubClassOf 'predisposes towards' some 'opioid dependence'
+ 'opioid dependence, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'opioid dependence'
Class: http://www.ebi.ac.uk/efo/EFO_0005772
Label(s): neurodegenerative disease
- 'neurodegenerative disease' SubClassOf 'disease has major feature' some 'Cerebral degeneration'
+ 'neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cerebral degeneration'
Class: http://purl.obolibrary.org/obo/MONDO_0017902
Label(s): autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
- 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease'
+ 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'mycobacterial infectious disease'
Class: http://purl.obolibrary.org/obo/MONDO_0012243
Label(s): B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
+ 'B-cell immunodeficiency, distal limb anomalies, and urogenital malformations' SubClassOf 'syndromic disease'
Class: http://www.ebi.ac.uk/efo/EFO_0003778
Label(s): psoriatic arthritis
- 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some 'Autoimmunity') and ('disease has major feature' some 'psoriasis')
- 'psoriatic arthritis' SubClassOf 'disease has major feature' some 'psoriasis'
+ 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some 'Autoimmunity') and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'psoriasis')
+ 'psoriatic arthritis' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'psoriasis'
Class: http://purl.obolibrary.org/obo/HP_0002750
Label(s): Delayed skeletal maturation
- 'Delayed skeletal maturation' SubClassOf 'Abnormality of the skeletal system'
+ 'Delayed skeletal maturation' SubClassOf 'Phenotypic abnormality'
Class: http://purl.obolibrary.org/obo/MONDO_0007124
Label(s): ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
+ 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040001
Class: http://purl.obolibrary.org/obo/MONDO_0012192
Label(s): permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
- 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0012161
Label(s): susceptibility to respiratory infections associated with CD8alpha chain mutation
- 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'predisposes towards' some 'respiratory tract infectious disorder'
+ 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'respiratory tract infectious disorder'
Class: http://purl.obolibrary.org/obo/MONDO_0012141
Label(s): orofacial cleft 6, susceptibility to
- 'orofacial cleft 6, susceptibility to' SubClassOf 'predisposes towards' some 'orofacial cleft'
+ 'orofacial cleft 6, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'orofacial cleft'
Class: http://purl.obolibrary.org/obo/MONDO_0009666
Label(s): holocarboxylase synthetase deficiency
- 'holocarboxylase synthetase deficiency' SubClassOf 'hereditary neurological disease'
- 'holocarboxylase synthetase deficiency' SubClassOf 'metabolic epilepsy'
Class: http://purl.obolibrary.org/obo/MONDO_0017746
Label(s): atypical Rett syndrome
- 'atypical Rett syndrome' SubClassOf 'disease shares features of' some 'Rett syndrome'
+ 'atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Rett syndrome'
Class: http://purl.obolibrary.org/obo/HP_0002659
Label(s): Increased susceptibility to fractures
- 'Increased susceptibility to fractures' SubClassOf 'Abnormality of the skeletal system'
+ 'Increased susceptibility to fractures' SubClassOf 'Phenotypic abnormality'
Class: http://purl.obolibrary.org/obo/MONDO_0007072
Label(s): ADULT syndrome
+ 'ADULT syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040001
Class: http://purl.obolibrary.org/obo/MONDO_0012057
Label(s): legionnaire disease, susceptibility to
- 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Legionnaires' disease')
- 'legionnaire disease, susceptibility to' SubClassOf 'predisposes towards' some 'Legionnaires' disease'
+ 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Legionnaires' disease')
+ 'legionnaire disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Legionnaires' disease'
Class: http://purl.obolibrary.org/obo/MONDO_0012009
Label(s): coronary heart disease, susceptibility to, 2
- 'coronary heart disease, susceptibility to, 2' SubClassOf 'predisposes towards' some 'coronary artery disease'
+ 'coronary heart disease, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'coronary artery disease'
Class: http://purl.obolibrary.org/obo/FBbt_00007049
Label(s): head visceral muscle primordium
- 'head visceral muscle primordium' SubClassOf 'visceral muscle primordium'
+ 'head visceral muscle primordium' SubClassOf 'Drosophila developmental tissue'
Class: http://purl.obolibrary.org/obo/MONDO_0017454
Label(s): triphalangeal thumb-polysyndactyly syndrome
- 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'disease has major feature' some 'polydactyly of a triphalangeal thumb'
+ 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'polydactyly of a triphalangeal thumb'
+ 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'genetic disorder'
Class: http://purl.obolibrary.org/obo/MONDO_1040030
Label(s): GBA1-related Parkinson disease, susceptibility
- 'GBA1-related Parkinson disease, susceptibility' SubClassOf 'predisposes towards' some 'Parkinson disease'
+ 'GBA1-related Parkinson disease, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Parkinson disease'
Class: http://purl.obolibrary.org/obo/MONDO_0017389
Label(s): tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria
- 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'disease responds to' some 'sapropterin'
+ 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'sapropterin'
Class: http://purl.obolibrary.org/obo/HP_0005616
Label(s): Accelerated skeletal maturation
- 'Accelerated skeletal maturation' SubClassOf 'Abnormality of the skeletal system'
+ 'Accelerated skeletal maturation' SubClassOf 'Phenotypic abnormality'
Class: http://purl.obolibrary.org/obo/MONDO_0032814
Label(s): microangiopathy and leukoencephalopathy, pontine, autosomal dominant
+ 'microangiopathy and leukoencephalopathy, pontine, autosomal dominant' SubClassOf 'COL4A1-related disorder'
Class: http://purl.obolibrary.org/obo/MONDO_0027766
Label(s): generalized lipodystrophy
- 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and ('disease has major feature' some 'Generalized lipodystrophy')
- 'generalized lipodystrophy' SubClassOf 'disease has major feature' some 'Generalized lipodystrophy'
+ 'generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Generalized lipodystrophy'
+ 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Generalized lipodystrophy')
Class: http://purl.obolibrary.org/obo/MONDO_0017054
Label(s): thiamine-responsive maple syrup urine disease
- 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and ('disease responds to' some 'vitamin B1')
- 'thiamine-responsive maple syrup urine disease' SubClassOf 'disease responds to' some 'vitamin B1'
+ 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'vitamin B1')
+ 'thiamine-responsive maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'vitamin B1'
Class: http://www.ebi.ac.uk/efo/EFO_0008506
Label(s): hyperparathyroidism
- 'hyperparathyroidism' SubClassOf 'disease has major feature' some 'Hyperparathyroidism'
+ 'hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperparathyroidism'
Class: http://purl.obolibrary.org/obo/UBERON_0004726
Label(s): vasa recta
- 'vasa recta' SubClassOf 'vein'
+ 'vasa recta' SubClassOf 'part_of' some 'kidney'
+ 'vasa recta' SubClassOf 'part_of' some 'trunk'
+ 'vasa recta' SubClassOf 'vasculature'
Class: http://www.ebi.ac.uk/efo/EFO_0000699
Label(s): Sjogren syndrome
- 'Sjogren syndrome' SubClassOf 'disease shares features of' some 'IgG4-related dacryoadenitis and sialadenitis'
+ 'Sjogren syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'IgG4-related dacryoadenitis and sialadenitis'
Class: http://purl.obolibrary.org/obo/MONDO_0017214
Label(s): vitamin B12-responsive methylmalonic acidemia
- 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and ('disease responds to' some 'cobalamin')
- 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'disease responds to' some 'cobalamin'
+ 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'cobalamin')
+ 'vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'cobalamin'
Class: http://purl.obolibrary.org/obo/MONDO_0009966
Label(s): NPHP3-related Meckel-like syndrome
- 'NPHP3-related Meckel-like syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0009958
Label(s): adult Refsum disease
- 'adult Refsum disease' SubClassOf 'disease has major feature' some 'Leukoencephalopathy'
+ 'adult Refsum disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Leukoencephalopathy'
Class: http://purl.obolibrary.org/obo/MONDO_0011685
Label(s): polysubstance abuse, susceptibility to
- 'polysubstance abuse, susceptibility to' SubClassOf 'predisposes towards' some 'drug dependence'
+ 'polysubstance abuse, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'drug dependence'
Class: http://purl.obolibrary.org/obo/MONDO_0007839
Label(s): Aase-Smith syndrome
- 'Aase-Smith syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0022394
Label(s): cervical intraepithelial neoplasia
- 'cervical intraepithelial neoplasia' SubClassOf 'disease has major feature' some 'Cervical polyp'
+ 'cervical intraepithelial neoplasia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Cervical polyp'
Class: http://purl.obolibrary.org/obo/MONDO_0060627
Label(s): glycosylphosphatidylinositol biosynthesis defect 15
- 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0060622
Label(s): neurodevelopmental disorder with severe motor impairment and absent language
+ 'neurodevelopmental disorder with severe motor impairment and absent language' SubClassOf 'complex neurodevelopmental disorder'
Class: http://purl.obolibrary.org/obo/MONDO_1030001
Label(s): epilepsy, juvenile absence, susceptibility to
- 'epilepsy, juvenile absence, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'juvenile absence epilepsy')
- 'epilepsy, juvenile absence, susceptibility to' SubClassOf 'predisposes towards' some 'juvenile absence epilepsy'
+ 'epilepsy, juvenile absence, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile absence epilepsy'
+ 'epilepsy, juvenile absence, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'juvenile absence epilepsy')
Class: http://purl.obolibrary.org/obo/MONDO_0700057
Label(s): neurological pain disorder
- 'neurological pain disorder' EquivalentTo 'nervous system disease' and ('disease has major feature' some 'Pain')
- 'neurological pain disorder' SubClassOf 'disease has major feature' some 'Pain'
+ 'neurological pain disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Pain'
+ 'neurological pain disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Pain')
Class: http://purl.obolibrary.org/obo/MONDO_0700041
Label(s): neuroblastoma, susceptibility to, 2
- 'neuroblastoma, susceptibility to, 2' SubClassOf 'predisposes towards' some 'neuroblastoma'
+ 'neuroblastoma, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neuroblastoma'
Class: http://purl.obolibrary.org/obo/MONDO_0027353
Label(s): autosomal recessive dyskeratosis congenita 4
- 'autosomal recessive dyskeratosis congenita 4' SubClassOf 'disease shares features of' some 'dyskeratosis congenita, autosomal dominant 2'
+ 'autosomal recessive dyskeratosis congenita 4' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'dyskeratosis congenita, autosomal dominant 2'
Class: http://purl.obolibrary.org/obo/MONDO_0009830
Label(s): parkinsonian-pyramidal syndrome
- 'parkinsonian-pyramidal syndrome' SubClassOf 'predisposes towards' some 'young-onset Parkinson disease'
+ 'parkinsonian-pyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'young-onset Parkinson disease'
Class: http://www.ebi.ac.uk/efo/EFO_0000712
Label(s): stroke
- 'stroke' SubClassOf 'disease has major feature' some 'Stroke'
+ 'stroke' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Stroke'
Class: http://purl.obolibrary.org/obo/MONDO_0014855
Label(s): intellectual disability, autosomal dominant 42
+ 'intellectual disability, autosomal dominant 42' SubClassOf 'monogenic epilepsy'
Class: http://purl.obolibrary.org/obo/MONDO_0014809
Label(s): DDX41-related hematologic malignancy predisposition syndrome
- 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf 'predisposes towards' some 'Myelodysplastic/Myeloproliferative Neoplasm'
+ 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'Myelodysplastic/Myeloproliferative Neoplasm'
Class: http://purl.obolibrary.org/obo/MONDO_0009741
Label(s): neuroblastoma, susceptibility to, 1
- 'neuroblastoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'neuroblastoma'
+ 'neuroblastoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'neuroblastoma'
Class: http://purl.obolibrary.org/obo/MONDO_0009724
Label(s): nail-patella-like renal disease
- 'nail-patella-like renal disease' SubClassOf 'kidney disease'
+ 'nail-patella-like renal disease' SubClassOf 'inherited kidney disorder'
Class: http://purl.obolibrary.org/obo/MONDO_0009720
Label(s): Keipert syndrome
+ 'Keipert syndrome' SubClassOf 'genetic disorder'
Class: http://www.ebi.ac.uk/efo/EFO_0000650
Label(s): whooping cough
- 'whooping cough' SubClassOf 'disease has major feature' some 'Whooping cough'
+ 'whooping cough' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Whooping cough'
Class: http://purl.obolibrary.org/obo/MONDO_0014795
Label(s): exercise intolerance, riboflavin-responsive
- 'exercise intolerance, riboflavin-responsive' SubClassOf 'disease responds to' some 'riboflavin'
+ 'exercise intolerance, riboflavin-responsive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'riboflavin'
Class: http://purl.obolibrary.org/obo/MONDO_0014787
Label(s): severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
- 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0014746
Label(s): SLC39A8-CDG
- 'SLC39A8-CDG' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0009696
Label(s): juvenile myoclonic epilepsy
- 'juvenile myoclonic epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome'
- 'juvenile myoclonic epilepsy' SubClassOf 'movement disorder'
- 'juvenile myoclonic epilepsy' SubClassOf 'childhood electroclinical syndrome'
- 'juvenile myoclonic epilepsy' SubClassOf 'familial partial epilepsy'
- 'juvenile myoclonic epilepsy' SubClassOf 'adolescence-adult electroclinical syndrome'
+ 'juvenile myoclonic epilepsy' SubClassOf 'generalised epilepsy'
Class: http://purl.obolibrary.org/obo/MONDO_0009665
Label(s): biotinidase deficiency
- 'biotinidase deficiency' SubClassOf 'metabolic epilepsy'
Class: http://purl.obolibrary.org/obo/MONDO_0009618
Label(s): microcephaly-cardiomyopathy syndrome
- 'microcephaly-cardiomyopathy syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy'
+ 'microcephaly-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Dilated cardiomyopathy'
Class: http://purl.obolibrary.org/obo/MONDO_0014601
Label(s): autosomal recessive spinocerebellar ataxia 20
- 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'autosomal recessive spinocerebellar ataxia 20' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0037748
Label(s): hyperlipoproteinemia
- 'hyperlipoproteinemia' SubClassOf 'disease has major feature' some 'Hyperlipoproteinemia'
- 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Hyperlipoproteinemia')
+ 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipoproteinemia')
+ 'hyperlipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperlipoproteinemia'
Class: http://purl.obolibrary.org/obo/MONDO_0009500
Label(s): kuru, susceptibility to
- 'kuru, susceptibility to' SubClassOf 'predisposes towards' some 'kuru'
+ 'kuru, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'kuru'
Class: http://purl.obolibrary.org/obo/MONDO_0014552
Label(s): lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
- 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0017901
Label(s): autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
- 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease'
+ 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'mycobacterial infectious disease'
Class: http://purl.obolibrary.org/obo/MONDO_0700249
Label(s): epidermolytic hyperkeratosis 1
- 'epidermolytic hyperkeratosis 1' SubClassOf 'epidermolytic ichthyosis'
Class: http://purl.obolibrary.org/obo/MONDO_0004951
Label(s): susceptibility to HIV infection
- 'susceptibility to HIV infection' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'HIV infection')
- 'susceptibility to HIV infection' SubClassOf 'predisposes towards' some 'HIV infection'
+ 'susceptibility to HIV infection' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'HIV infection')
+ 'susceptibility to HIV infection' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'HIV infection'
Class: http://purl.obolibrary.org/obo/MONDO_0009499
Label(s): Krabbe disease
- 'Krabbe disease' SubClassOf 'disease has basis in accumulation of' some 'psychosine'
+ 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_accumulation_of some 'psychosine'
Class: http://purl.obolibrary.org/obo/MONDO_0009480
Label(s): Joubert syndrome with oculorenal defect
- 'Joubert syndrome with oculorenal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0012308
Label(s): Joubert syndrome with renal defect
- 'Joubert syndrome with renal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0012341
Label(s): celiac disease, susceptibility to, 3
- 'celiac disease, susceptibility to, 3' SubClassOf 'predisposes towards' some 'celiac disease'
+ 'celiac disease, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'celiac disease'
Class: http://purl.obolibrary.org/obo/MONDO_0009405
Label(s): cervical hypertrichosis-peripheral neuropathy syndrome
- 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0017571
Label(s): Proteus-like syndrome
- 'Proteus-like syndrome' SubClassOf 'disease shares features of' some 'Proteus syndrome'
+ 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_shares_features_of some 'Proteus syndrome'
Class: http://www.ebi.ac.uk/efo/EFO_0000373
Label(s): congestive heart failure
- 'congestive heart failure' SubClassOf 'disease has major feature' some 'Congestive heart failure'
+ 'congestive heart failure' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Congestive heart failure'
Class: http://purl.obolibrary.org/obo/MONDO_0014471
Label(s): mitochondrial proton-transporting ATP synthase complex deficiency
- 'mitochondrial proton-transporting ATP synthase complex deficiency' SubClassOf 'disease has basis in dysfunction of' some 'obsolete mitochondrial proton-transporting ATP synthase complex'
- 'mitochondrial proton-transporting ATP synthase complex deficiency' EquivalentTo 'disease' and ('disease has basis in dysfunction of' some 'obsolete mitochondrial proton-transporting ATP synthase complex')
Class: http://purl.obolibrary.org/obo/MONDO_0014419
Label(s): ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
- 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
Class: http://www.ebi.ac.uk/efo/EFO_0005917
Label(s): generalised epilepsy
- 'generalised epilepsy' SubClassOf 'idiopathic disease'
- 'generalised epilepsy' SubClassOf 'epilepsy'
- 'generalised epilepsy' SubClassOf 'hereditary neurological disease'
+ 'generalised epilepsy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100576
Class: http://purl.obolibrary.org/obo/MONDO_0001941
Label(s): blindness (disorder)
- 'blindness (disorder)' SubClassOf 'disease has major feature' some 'Blindness'
- 'blindness (disorder)' EquivalentTo 'vision disorder' and ('disease has major feature' some 'Blindness')
+ 'blindness (disorder)' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Blindness'
+ 'blindness (disorder)' EquivalentTo 'vision disorder' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Blindness')
Class: http://www.ebi.ac.uk/efo/EFO_0000206
Label(s): stage II endometrioid carcinoma
- 'stage II endometrioid carcinoma' SubClassOf 'part of progression of disease' some 'endometrial carcinoma'
+ 'stage II endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease some 'endometrial carcinoma'
Class: http://www.ebi.ac.uk/efo/EFO_0000205
Label(s): stage I endometrioid carcinoma
- 'stage I endometrioid carcinoma' SubClassOf 'part of progression of disease' some 'endometrial carcinoma'
+ 'stage I endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo#part_of_progression_of_disease some 'endometrial carcinoma'
Class: http://purl.obolibrary.org/obo/MONDO_0014241
Label(s): leukemia, acute lymphoblastic, susceptibility to, 3
- 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf 'predisposes towards' some 'acute lymphoblastic leukemia'
+ 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'acute lymphoblastic leukemia'
Class: http://purl.obolibrary.org/obo/MONDO_0014232
Label(s): craniosynostosis 5, susceptibility to
- 'craniosynostosis 5, susceptibility to' SubClassOf 'predisposes towards' some 'craniosynostosis'
+ 'craniosynostosis 5, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'craniosynostosis'
Class: http://purl.obolibrary.org/obo/MONDO_0014201
Label(s): developmental and epileptic encephalopathy, 18
- 'developmental and epileptic encephalopathy, 18' SubClassOf 'infantile epilepsy syndrome'
Class: http://purl.obolibrary.org/obo/MONDO_0012081
Label(s): 15q11q13 microduplication syndrome
- '15q11q13 microduplication syndrome' SubClassOf 'predisposes towards' some 'autism'
+ '15q11q13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'autism'
Class: http://purl.obolibrary.org/obo/MONDO_0014189
Label(s): age related macular degeneration 13
- 'age related macular degeneration 13' SubClassOf 'predisposes towards' some 'age-related macular degeneration'
+ 'age related macular degeneration 13' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'age-related macular degeneration'
Class: http://purl.obolibrary.org/obo/MONDO_0009084
Label(s): conductive deafness-ptosis-skeletal anomalies syndrome
- 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf 'disease has major feature' some 'Conductive hearing impairment'
+ 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Conductive hearing impairment'
Class: http://purl.obolibrary.org/obo/MONDO_0009080
Label(s): split hand-foot malformation 1 with sensorineural hearing loss
- 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'disease has major feature' some 'Ectrodactyly'
+ 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Ectrodactyly'
Class: http://purl.obolibrary.org/obo/MONDO_0009075
Label(s): Dandy-Walker malformation-postaxial polydactyly syndrome
- 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0009074
Label(s): facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation'
+ 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'central nervous system malformation'
Class: http://purl.obolibrary.org/obo/MONDO_0014091
Label(s): mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
- 'mitochondrial complex V (ATP synthase) deficiency nuclear type 4B' SubClassOf 'combined oxidative phosphorylation deficiency 22'
+ 'mitochondrial complex V (ATP synthase) deficiency nuclear type 4B' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency'
Class: http://purl.obolibrary.org/obo/MONDO_0014038
Label(s): colorectal cancer, susceptibility to, 12
- 'colorectal cancer, susceptibility to, 12' SubClassOf 'predisposes towards' some 'colorectal cancer'
+ 'colorectal cancer, susceptibility to, 12' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'colorectal cancer'
Class: http://purl.obolibrary.org/obo/MONDO_0957560
Label(s): hearing loss, noise-induced, susceptibility to
- 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'noise-induced hearing loss')
- 'hearing loss, noise-induced, susceptibility to' SubClassOf 'predisposes towards' some 'noise-induced hearing loss'
+ 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'noise-induced hearing loss')
+ 'hearing loss, noise-induced, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'noise-induced hearing loss'
Class: http://www.ebi.ac.uk/efo/EFO_0010492
Label(s): glycocholic acid measurement
- 'glycocholic acid measurement' SubClassOf 'lipid measurement'
+ 'glycocholic acid measurement' SubClassOf 'bile acid measurement'
Class: http://purl.obolibrary.org/obo/MONDO_0024512
Label(s): spondyloarthropathy, susceptibility to
- 'spondyloarthropathy, susceptibility to' SubClassOf 'predisposes towards' some 'spondyloarthropathy'
- 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'spondyloarthropathy')
+ 'spondyloarthropathy, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'spondyloarthropathy'
+ 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'spondyloarthropathy')
Class: http://purl.obolibrary.org/obo/MONDO_0019485
Label(s): idiopathic hemiconvulsion-hemiplegia syndrome
- 'idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'generalised epilepsy'
+ 'idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'idiopathic disease'
Class: http://purl.obolibrary.org/obo/MONDO_0012292
Label(s): hepatitis C virus, susceptibility to
- 'hepatitis C virus, susceptibility to' SubClassOf 'predisposes towards' some 'hepatitis C virus infection'
+ 'hepatitis C virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hepatitis C virus infection'
Class: http://purl.obolibrary.org/obo/MONDO_0001340
Label(s): heart cancer
- 'heart cancer' SubClassOf 'thoracic cancer'
+ 'heart cancer' SubClassOf 'thoracic cancer'
Class: http://purl.obolibrary.org/obo/MONDO_0100488
Label(s): CDH1-related diffuse gastric and lobular breast cancer syndrome
- 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf 'predisposes towards' some 'hereditary gastric cancer'
- 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf 'predisposes towards' some 'lobular breast carcinoma'
+ 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'lobular breast carcinoma'
+ 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'hereditary gastric cancer'
Class: http://purl.obolibrary.org/obo/MONDO_0011428
Label(s): ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
+ 'ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040001
Class: http://purl.obolibrary.org/obo/MONDO_0011970
Label(s): rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
+ 'rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome' SubClassOf 'hereditary neurological disease'
Class: http://purl.obolibrary.org/obo/MONDO_0011959
Label(s): sweet syndrome
- 'sweet syndrome' SubClassOf 'skin disease'
+ 'sweet syndrome' SubClassOf 'hereditary disorder of connective tissue'
+ 'sweet syndrome' SubClassOf 'hereditary skin disorder'
Class: http://purl.obolibrary.org/obo/MONDO_0100308
Label(s): atactic disorder
- 'atactic disorder' SubClassOf 'disease has major feature' some 'Ataxia'
- 'atactic disorder' EquivalentTo 'nervous system disease' and ('disease has major feature' some 'Ataxia')
+ 'atactic disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Ataxia')
+ 'atactic disorder' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Ataxia'
Class: http://purl.obolibrary.org/obo/MONDO_0019290
Label(s): hypopigmentation of the skin
- 'hypopigmentation of the skin' EquivalentTo 'disease' and ('disease has major feature' some 'Hypopigmentation of the skin')
- 'hypopigmentation of the skin' SubClassOf 'disease has major feature' some 'Hypopigmentation of the skin'
+ 'hypopigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypopigmentation of the skin')
+ 'hypopigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hypopigmentation of the skin'
Class: http://purl.obolibrary.org/obo/MONDO_0019289
Label(s): hyperpigmentation of the skin
- 'hyperpigmentation of the skin' EquivalentTo 'disease' and ('disease has major feature' some 'Hyperpigmentation of the skin')
- 'hyperpigmentation of the skin' SubClassOf 'disease has major feature' some 'Hyperpigmentation of the skin'
+ 'hyperpigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperpigmentation of the skin'
+ 'hyperpigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo#disease_has_major_feature some 'Hyperpigmentation of the skin')
Class: http://purl.obolibrary.org/obo/MONDO_0019287
Label(s): ectodermal dysplasia syndrome
- 'ectodermal dysplasia syndrome' SubClassOf 'disease_has_basis_in_development_of' some 'ectoderm'
+ 'ectodermal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of some 'ectoderm'
Class: http://purl.obolibrary.org/obo/MONDO_0011892
Label(s): epilepsy, idiopathic generalized, susceptibility to, 9
- 'epilepsy, idiopathic generalized, susceptibility to, 9' SubClassOf 'predisposes towards' some 'generalised epilepsy'
+ 'epilepsy, idiopathic generalized, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo#predisposes_towards some 'generalised epilepsy'
Class: http://purl.obolibrary.org/obo/MONDO_0011847