-
Notifications
You must be signed in to change notification settings - Fork 0
/
Copy pathsira.obo
2334 lines (2206 loc) · 118 KB
/
sira.obo
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
format-version: 1.2
data-version: http://www.ebi.ac.uk/sira/releases/v1.0.0/sira.owl
subsetdef: 1_STAR "Preliminary entries"
subsetdef: 2_STAR "Annotated by 3rd party"
subsetdef: 3_STAR "Manually annotated by ChEBI Team"
subsetdef: DO_AGR_slim ""
subsetdef: DO_FlyBase_slim ""
subsetdef: DO_GXD_slim ""
subsetdef: DO_MGI_slim ""
subsetdef: efo_slim ""
subsetdef: functional_classification ""
subsetdef: gard_rare ""
subsetdef: gram-positive_bacterial_infectious_disease ""
subsetdef: http://purl.obolibrary.org/obo/valid_for_go_annotation_extension ""
subsetdef: http://purl.obolibrary.org/obo/valid_for_go_gp2term ""
subsetdef: http://purl.obolibrary.org/obo/valid_for_go_ontology ""
subsetdef: http://purl.obolibrary.org/obo/valid_for_gocam ""
subsetdef: http://www.ebi.ac.uk/efo/added_for_HCA "Term added upon request from Human Cell Atlas curators."
subsetdef: IMPC_Prenatal ""
subsetdef: NCIthesaurus ""
subsetdef: ordo_disease ""
subsetdef: ordo_etiological_subtype ""
subsetdef: ordo_group_of_disorders ""
subsetdef: pheno_slim ""
subsetdef: ro-eco ""
subsetdef: Sanger_Terms ""
subsetdef: uberon_slim ""
subsetdef: vertebrate_core ""
synonymtypedef: BRAND_NAME "BRAND NAME"
synonymtypedef: INN "INN"
synonymtypedef: IUPAC_NAME "IUPAC NAME"
remark: 2021-06-29
ontology: http://www.ebi.ac.uk/sira/sira.owl
property_value: http://purl.obolibrary.org/obo/format-version "1.4" xsd:string
property_value: http://purl.org/dc/elements/1.1/rights "Copyright [2014] EMBL - European Bioinformatics Institute\nLicensed under the Apache License, Version 2.0 (the \"License\"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an \"AS IS\" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the\nLicense. " xsd:string
property_value: http://purl.org/dc/terms/license "www.apache.org/licenses/LICENSE-2.0" xsd:string
property_value: http://www.ebi.ac.uk/efo/creator "Sirarat Sarntivijai" xsd:string
property_value: owl:versionInfo "1.0.0" xsd:string
owl-axioms: Prefix(owl:=<http://www.w3.org/2002/07/owl#>)\nPrefix(rdf:=<http://www.w3.org/1999/02/22-rdf-syntax-ns#>)\nPrefix(xml:=<http://www.w3.org/XML/1998/namespace>)\nPrefix(xsd:=<http://www.w3.org/2001/XMLSchema#>)\nPrefix(rdfs:=<http://www.w3.org/2000/01/rdf-schema#>)\n\n\nOntology(\nDeclaration(Class(<http://www.ebi.ac.uk/sira/SIRA_0000001>))\nDeclaration(AnnotationProperty(<http://purl.org/dc/elements/1.1/creator>))\nDeclaration(AnnotationProperty(<http://www.geneontology.org/formats/oboInOwl#created_by>))\nDeclaration(AnnotationProperty(<http://www.geneontology.org/formats/oboInOwl#id>))\nDeclaration(AnnotationProperty(<http://www.w3.org/2004/02/skos/core#prefLabel>))\n############################\n# Annotation Properties\n############################\n\n# Annotation Property: <http://www.geneontology.org/formats/oboInOwl#created_by> (created_by)\n\nSubAnnotationPropertyOf(<http://www.geneontology.org/formats/oboInOwl#created_by> <http://purl.org/dc/elements/1.1/creator>)\n\n# Annotation Property: <http://www.w3.org/2004/02/skos/core#prefLabel> (preferred label)\n\nSubAnnotationPropertyOf(<http://www.w3.org/2004/02/skos/core#prefLabel> rdfs:label)\n\n\n\n############################\n# Classes\n############################\n\n# Class: <http://www.ebi.ac.uk/sira/SIRA_0000001> (literature services)\n\nSubClassOf(<http://www.ebi.ac.uk/sira/SIRA_0000001> owl:Thing)\n\n\nAnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/RO_0000052> \"inheres_in\")\nAnnotationAssertion(<http://www.geneontology.org/formats/oboInOwl#id> <http://purl.obolibrary.org/obo/RO_0004029> \"disease_has_feature\")\n)
[Term]
id: DOID:11405
name: diphtheria
namespace: disease_ontology
alt_id: DOID:4132
def: "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." [url:http\://en.wikipedia.org/wiki/Diphtheria] {http://purl.org/dc/elements/1.1/type="ECO:0007638"}
subset: gram-positive_bacterial_infectious_disease
synonym: "corynebacterium infection" EXACT []
xref: GARD:1875
xref: MESH:D003354
xref: SNOMEDCT_US_2020_09_01:397434007
xref: UMLS_CUI:C0010153
is_a: SIRA:0000001 ! literature services
[Term]
id: DOID:12399
name: pathological gambling
namespace: disease_ontology
def: "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life." [url:https\://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004711/] {http://purl.org/dc/elements/1.1/type="ECO:0007645"}
comment: OMIM mapping confirmed by DO. [SN].
subset: NCIthesaurus
synonym: "Compulsive gambling" EXACT []
synonym: "Pathological gambling" EXACT []
xref: ICD10CM:F63.0
xref: ICD9CM:312.31
xref: MESH:D005715
xref: NCI:C94335
xref: OMIM:606349
xref: SNOMEDCT_US_2020_09_01:18085000
xref: UMLS_CUI:C0030662
is_a: SIRA:0000001 ! literature services
[Term]
id: DOID:12400
name: kleptomania
namespace: disease_ontology
def: "An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen." [url:https\://en.wikipedia.org/wiki/Kleptomania] {http://purl.org/dc/elements/1.1/type="ECO:0007638"}
subset: NCIthesaurus
synonym: "Pathological stealing" EXACT []
xref: ICD10CM:F63.2
xref: ICD9CM:312.32
xref: MESH:D007174
xref: NCI:C94333
xref: SNOMEDCT_US_2020_09_01:69361009
xref: UMLS_CUI:C0022734
is_a: SIRA:0000001 ! literature services
[Term]
id: DOID:12842
name: Guillain-Barre syndrome
namespace: disease_ontology
def: "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system." [url:http\://www.ninds.nih.gov/disorders/gbs/gbs.htm] {http://purl.org/dc/elements/1.1/type="ECO:0007637"}
comment: OMIM mapping confirmed by DO. [SN].
subset: NCIthesaurus
synonym: "acute infective polyneuritis" EXACT []
synonym: "acute inflammatory demyelinating polyradiculopathy" EXACT []
synonym: "acute postinfectious polyneuropathy" EXACT []
synonym: "Infectious neuronitis" EXACT []
synonym: "Post-infectious polyneuritis" EXACT []
synonym: "Postinfectious polyneuritis" EXACT []
xref: GARD:6554
xref: ICD10CM:G61.0
xref: MESH:D020275
xref: NCI:C116345
xref: OMIM:139393
xref: SNOMEDCT_US_2020_09_01:155082001
xref: UMLS_CUI:C0018378
is_a: DOID:2914 ! immune system disease
[Term]
id: DOID:12889
name: Miller Fisher syndrome
namespace: disease_ontology
def: "A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia." [url:http\://en.wikipedia.org/wiki/Miller_Fisher_syndrome#Classification] {http://purl.org/dc/elements/1.1/type="ECO:0007638"}
subset: NCIthesaurus
synonym: "Fisher's syndrome" EXACT []
synonym: "Miller-Fisher variant of Guillain-Barre syndrome" EXACT []
xref: GARD:3668
xref: ICD10CM:G61.0
xref: MESH:D019846
xref: NCI:C116958
xref: SNOMEDCT_US_2020_09_01:1767005
xref: UMLS_CUI:C0393799
is_a: DOID:12842 ! Guillain-Barre syndrome
[Term]
id: DOID:2914
name: immune system disease
namespace: disease_ontology
def: "A disease of anatomical entity that is located_in the immune system." [url:http\://en.wikipedia.org/wiki/Immune_system] {http://purl.org/dc/elements/1.1/type="ECO:0007638"}
subset: DO_AGR_slim
subset: DO_FlyBase_slim
subset: DO_GXD_slim
subset: DO_MGI_slim
xref: EFO:0000540
xref: ICD10CM:D89.9
xref: ICD9CM:279.9
xref: SNOMEDCT_US_2020_09_01:154782004
xref: UMLS_CUI:C0041806
is_a: SIRA:0000001 ! literature services
[Term]
id: DOID:552
name: pneumonia
namespace: disease_ontology
alt_id: DOID:10509
alt_id: DOID:11742
alt_id: DOID:5871
def: "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing." [url:http\://en.wikipedia.org/wiki/Pneumonia] {http://purl.org/dc/elements/1.1/type="ECO:0007638"}
subset: NCIthesaurus
synonym: "acute pneumonia" EXACT []
xref: MESH:D011014
xref: NCI:C3333
xref: SNOMEDCT_US_2020_09_01:266391003
xref: UMLS_CUI:C0032285
is_a: SIRA:0000001 ! literature services
[Term]
id: DOID:9248
name: Pallister-Hall syndrome
namespace: disease_ontology
comment: OMIM mapping confirmed by DO. [SN].
subset: NCIthesaurus
synonym: "A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14." EXACT []
xref: GARD:7305
xref: MESH:D054975
xref: NCI:C84987
xref: OMIM:146510
xref: SNOMEDCT_US_2020_09_01:56677004
xref: UMLS_CUI:C0265220
is_a: SIRA:0000001 ! literature services
[Term]
id: DOID:9395
name: croup
namespace: disease_ontology
def: "A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus." [url:http\://books.google.com/books?id=G6k0tpPMRsIC&pg=PA254&lpg=PA254&dq#v=onepage&q=&f=false, url:http\://www.nlm.nih.gov/medlineplus/ency/article/000959.htm, url:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=croup] {http://purl.org/dc/elements/1.1/type="ECO:0007643", http://purl.org/dc/elements/1.1/type="ECO:0007640"}
subset: NCIthesaurus
synonym: "acute laryngotracheobronchitis" EXACT []
synonym: "acute Obstructive Laryngitis" EXACT []
synonym: "Croup syndrome" EXACT []
synonym: "Laryngotracheobronchitis" EXACT []
xref: ICD10CM:J05.0
xref: ICD9CM:464.4
xref: MESH:D003440
xref: NCI:C26735
xref: SNOMEDCT_US_2020_09_01:71186008
xref: UMLS_CUI:C0010380
is_a: SIRA:0000001 ! literature services
[Term]
id: EFO:0000540
name: immune system disease
def: "A disorder resulting from an abnormality in the immune system." [NCIT:C3507]
def: "A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions. It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)" []
synonym: "[X]Disorder involving the immune mechanism, unspecified" EXACT []
synonym: "[X]Disorder involving the immune mechanism, unspecified (disorder)" EXACT []
synonym: "AUTOIMMUNE DISEASE NEC" EXACT []
synonym: "Autoimmune disease, not elsewhere classified" EXACT []
synonym: "autoimmune diseases" EXACT []
synonym: "DEFIC CELL IMMUNITY NOS" EXACT []
synonym: "Deficiency of cell-mediated immunity" EXACT []
synonym: "disease of immune system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of immune system" EXACT []
synonym: "disorder of immune system" EXACT [MONDO:patterns/location_top, NCIT:C3507]
synonym: "Disorder of the immune mechanism NOS" EXACT []
synonym: "Disorder of the immune mechanism NOS (disorder)" EXACT []
synonym: "Disorders involving the immune mechanism" EXACT []
synonym: "IMMUNDEF T-CELL DEF NOS" EXACT []
synonym: "immune disease" EXACT [DOID:2914]
synonym: "immune disorder" EXACT [NCIT:C3507]
synonym: "immune dysfunction" EXACT [NCIT:C3507]
synonym: "IMMUNE MECHANISM DIS NEC" EXACT []
synonym: "IMMUNE MECHANISM DIS NOS" EXACT []
synonym: "Immune System and Related Disorders" EXACT []
synonym: "immune system disease" EXACT [] {comment="preferred label from MONDO"}
synonym: "immune system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "immune system disorder" EXACT [NCIT:C3507]
synonym: "Immunodeficiency and Immunosuppression Disorders" EXACT []
synonym: "Immunodeficiency with predominant T-cell defect, unspecified" EXACT []
synonym: "Other deficiency of cell-mediated immunity" EXACT []
synonym: "Other specified disorders involving the immune mechanism" EXACT []
synonym: "Other specified disorders of the immune mechanism" EXACT []
synonym: "Other specified disorders of the immune mechanism (disorder)" EXACT []
synonym: "Unspecified disorder of immune mechanism" EXACT []
xref: DOID:2914 {source="EFO:0000540", source="MONDO:equivalentTo"}
xref: ICD10:D89
xref: ICD10:D89.9 {source="DOID:2914"}
xref: ICD9:279 {source="EFO:0000540", source="DOID:2914"}
xref: ICD9:279.1 {source="EFO:0000540"}
xref: ICD9:279.10 {source="EFO:0000540"}
xref: ICD9:279.19 {source="EFO:0000540"}
xref: ICD9:279.4 {source="EFO:0000540"}
xref: ICD9:279.49 {source="EFO:0000540"}
xref: ICD9:279.8 {source="MONDO:relatedTo", source="EFO:0000540", source="i2s"}
xref: ICD9:279.9 {source="EFO:0000540", source="MONDO:equivalentTo", source="i2s", source="DOID:2914"}
xref: MeSH:D001327
xref: MESH:D007154 {source="MONDO:equivalentTo"}
xref: MONDO:0005046
xref: NCIt:C27351
xref: NCIT:C3507 {source="MONDO:equivalentTo"}
xref: OMIM:109100
xref: SCTID:414029004 {source="MONDO:equivalentTo"}
is_a: SIRA:0000001 ! literature services
property_value: closeMatch http://identifiers.org/snomedct/154782004
property_value: closeMatch http://identifiers.org/snomedct/191015009
property_value: closeMatch http://identifiers.org/snomedct/191019003
property_value: closeMatch http://identifiers.org/snomedct/191035005
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0021053
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0041806
property_value: closeMatch NCIT:C27351
property_value: exactMatch DOID:2914
property_value: exactMatch http://identifiers.org/mesh/D007154
property_value: exactMatch http://identifiers.org/snomedct/414029004
property_value: exactMatch NCIT:C3507
property_value: gwas:trait "true" xsd:string
property_value: IAO:0000117 "James Malone" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
[Term]
id: EFO:0000544
name: infection
def: "The state of being infected such as from the introduction of a foreign agent such as serum, vaccine, antigenic substance or organism." []
xref: MedDRA:10021789
xref: MeSH:D007239
is_a: SIRA:0000001 ! literature services
property_value: IAO:0000117 "James Malone" xsd:string
[Term]
id: EFO:0000551
name: intracranial hemorrhage
def: "Bleeding within the cranium." [NCIT:P378]
def: "Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces." []
comment: Editor note: consider obsoleting https://github.com/EBISPOT/OLS/issues/207
synonym: "Brain Hemorrhage" EXACT []
synonym: "Brain Hemorrhages" EXACT []
synonym: "HEMORRHAGE INTRACRANIAL" EXACT []
synonym: "Hemorrhage, Brain" EXACT []
synonym: "Hemorrhage, Intracranial" EXACT []
synonym: "Hemorrhage, Posterior Fossa" EXACT []
synonym: "Hemorrhages, Brain" EXACT []
synonym: "Hemorrhages, Intracranial" EXACT []
synonym: "Hemorrhages, Posterior Fossa" EXACT []
synonym: "Intracranial haemorrhage" EXACT []
synonym: "Intracranial haemorrhage NOS" EXACT []
synonym: "INTRACRANIAL HEMORR NOS" EXACT []
synonym: "Intracranial Hemorrhage" EXACT []
synonym: "intracranial hemorrhage" EXACT [] {comment="preferred label from MONDO"}
synonym: "Intracranial hemorrhage (disorder)" EXACT []
synonym: "intracranial hemorrhage NOS (disorder)" EXACT []
synonym: "Intracranial hemorrhage, NOS" EXACT []
synonym: "Intracranial Hemorrhages" EXACT []
synonym: "Posterior Fossa Hemorrhage" EXACT []
synonym: "Posterior Fossa Hemorrhages" EXACT []
synonym: "Unspecified intracranial hemorrhage" EXACT []
xref: ICD10:I62
xref: ICD9:432.9 {source="EFO:0000551"}
xref: MedDRA:10022763
xref: MedDRA:10055295
xref: MESH:D020300 {source="EFO:0000551", source="MONDO:equivalentTo"}
xref: MeSH:D020300
xref: MONDO:0005049
xref: SNOMEDCT:1386000
xref: UMLS:CN236663 {source="MONDO:equivalentTo"}
is_a: EFO:0000618 ! nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/1386000
property_value: exactMatch http://identifiers.org/mesh/D020300
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/CN236663
property_value: exactMatch NCIT:C50438
property_value: IAO:0000117 "James Malone" xsd:string
property_value: IAO:0000117 "Zoe May Pendlington" xsd:string
[Term]
id: EFO:0000618
name: nervous system disease
def: "a general class of medical conditions affecting the nervous system." []
def: "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves." [NCIT:C26835]
synonym: "disease of nervous system" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of nervous system" EXACT []
synonym: "disorder of nervous system" EXACT [MONDO:patterns/location_top, NCIT:C26835]
synonym: "nervous system disease" EXACT [MONDO:patterns/location]
synonym: "nervous system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "nervous system disorder" EXACT [NCIT:C26835]
synonym: "nervous system disorder" EXACT [] {comment="preferred label from MONDO"}
synonym: "neurologic disease" EXACT [DOID:863]
synonym: "neurologic disorder" EXACT [DOID:863, ISBN-13:978-1259644030, NCIT:C26835]
synonym: "neurological disease" EXACT [DOID:863]
synonym: "neurological disorder" EXACT [DOID:863]
synonym: "neurological problem" EXACT []
xref: DOID:863 {source="EFO:0000618", source="MONDO:equivalentTo"}
xref: ICD10:G00-G99 {source="DOID:863"}
xref: ICD10:G00.G99 {source="MONDO:equivalentTo"}
xref: ICD10:G98 {source="DOID:863"}
xref: ICD10:G98.8 {source="DOID:863"}
xref: ICD9:349.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:349.9 {source="DOID:863", source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D009422 {source="DOID:863", source="MONDO:equivalentTo"}
xref: MONDO:0005071
xref: NCIT:C26835 {source="DOID:863", source="MONDO:equivalentTo", source="NCIT:C26835"}
xref: SCTID:118940003 {source="DOID:863", source="MONDO:equivalentTo"}
xref: UMLS:C0027765 {source="DOID:863", source="MONDO:equivalentTo", source="NCIT:C26835"}
xref: Wikipedia:Nervous_system_disease {source="EFO:0000618"}
is_a: SIRA:0000001 ! literature services
property_value: closeMatch http://identifiers.org/snomedct/154981003
property_value: closeMatch http://identifiers.org/snomedct/155262005
property_value: closeMatch http://identifiers.org/snomedct/192641002
property_value: closeMatch http://identifiers.org/snomedct/267679005
property_value: closeMatch http://identifiers.org/snomedct/286946008
property_value: exactMatch DOID:863
property_value: exactMatch http://identifiers.org/mesh/D009422
property_value: exactMatch http://identifiers.org/snomedct/118940003
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027765
property_value: exactMatch NCIT:C26835
property_value: IAO:0000117 "James Malone" xsd:string
property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string
[Term]
id: EFO:0000684
name: respiratory system disease
def: "A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs." []
def: "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma." [NCIT:C26871]
synonym: "[X]Chronic and other pulmonary manifestations due to radiation" EXACT []
synonym: "[X]Chronic and other pulmonary manifestations due to radiation (disorder)" EXACT []
synonym: "[X]Other diseases of the respiratory system" EXACT []
synonym: "[X]Other diseases of the respiratory system (disorder)" EXACT []
synonym: "[X]Respiratory conditions due to other specified external agents" EXACT []
synonym: "[X]Respiratory conditions due to other specified external agents (disorder)" EXACT []
synonym: "[X]Respiratory conditions due to unspecified external agent" EXACT []
synonym: "[X]Respiratory conditions due to unspecified external agent (disorder)" EXACT []
synonym: "ALVEOL PNEUMONOPATHY NEC" EXACT []
synonym: "ALVEOL PNEUMONOPATHY NOS" EXACT []
synonym: "CHR PUL MANIF D/T RADIAT" EXACT []
synonym: "Chronic and other pulmonary manifestations due to radiation" EXACT []
synonym: "Disease of respiratory system" EXACT []
synonym: "disease of respiratory system" EXACT [MONDO:patterns/location_top]
synonym: "Disease of respiratory system (disorder)" EXACT []
synonym: "Disease of respiratory system, NOS" EXACT []
synonym: "disease or disorder of respiratory system" EXACT []
synonym: "DISEASES OF THE RESPIRATORY SYSTEM" EXACT []
synonym: "Disorder of respiratory system" EXACT []
synonym: "disorder of respiratory system" EXACT [MONDO:patterns/location_top, NCIT:C26871]
synonym: "Disorder of respiratory system (disorder)" EXACT []
synonym: "INORG DUST PNEUMOCON NEC" EXACT []
synonym: "LUNG INVOLV IN OTH DIS" EXACT []
synonym: "Lung involvement in conditions classified elsewhere" EXACT []
synonym: "Lung involvement in other diseases classified elsewhere" EXACT []
synonym: "MEDIASTINUM DISEASE NEC" EXACT []
synonym: "Other alveolar and parietoalveolar pneumonopathy" EXACT []
synonym: "Other diseases of mediastinum, not elsewhere classified" EXACT []
synonym: "Other diseases of respiratory system" EXACT []
synonym: "Other diseases of respiratory system NOS" EXACT []
synonym: "Other diseases of respiratory system NOS (disorder)" EXACT []
synonym: "Other diseases of respiratory system, not elsewhere classified" EXACT []
synonym: "Other diseases of trachea and bronchus, not elsewhere classified" EXACT []
synonym: "Other respiratory system diseases" EXACT []
synonym: "Other respiratory system diseases (disorder)" EXACT []
synonym: "Other respiratory system diseases NOS" EXACT []
synonym: "Other respiratory system diseases NOS (disorder)" EXACT []
synonym: "Other specified alveolar and parietoalveolar pneumonopathies" EXACT []
synonym: "PNEUMOCONIOSES AND OTHER LUNG DISEASES DUE TO EXTERNAL AGENTS" EXACT []
synonym: "Pneumoconiosis due to other inorganic dust" EXACT []
synonym: "RESP COND: EXT AGENT NEC" EXACT []
synonym: "RESP COND: EXT AGENT NOS" EXACT []
synonym: "RESP SYSTEM DISEASE NEC" EXACT []
synonym: "RESP SYSTEM DISEASE NOS" EXACT []
synonym: "Respiratory conditions due to other and unspecified external agents" EXACT []
synonym: "Respiratory conditions due to other specified external agents" EXACT []
synonym: "Respiratory conditions due to unspecified external agent" EXACT []
synonym: "Respiratory disease" EXACT []
synonym: "respiratory disease" EXACT [DOID:1579]
synonym: "Respiratory disorder" EXACT []
synonym: "respiratory disorder" EXACT [NCIT:C26871]
synonym: "Respiratory disorder, NOS" EXACT []
synonym: "respiratory system disease" EXACT [MONDO:patterns/location]
synonym: "respiratory system disease" EXACT [] {comment="preferred label from MONDO"}
synonym: "respiratory system disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "Respiratory system diseases NOS" EXACT []
synonym: "Respiratory system diseases NOS (disorder)" EXACT []
synonym: "Respiratory System Disorder" EXACT []
synonym: "respiratory system disorder" EXACT [NCIT:C26871]
synonym: "Unspecified alveolar and parietoalveolar pneumonopathy" EXACT []
synonym: "Unspecified disease of respiratory system" EXACT []
xref: DOID:1579 {source="EFO:0000684", source="MONDO:equivalentTo"}
xref: ICD10:J06
xref: ICD10:J34
xref: ICD10:J39
xref: ICD10:J63
xref: ICD10:J96-J99 {source="DOID:1579"}
xref: ICD10:J98 {source="DOID:1579"}
xref: ICD10:J99
xref: ICD9:460-519.99 {source="EFO:0000684"}
xref: ICD9:500-508.99 {source="EFO:0000684"}
xref: ICD9:503 {source="EFO:0000684"}
xref: ICD9:508 {source="EFO:0000684"}
xref: ICD9:508.1 {source="EFO:0000684"}
xref: ICD9:508.8 {source="EFO:0000684"}
xref: ICD9:508.9 {source="EFO:0000684"}
xref: ICD9:510-519.99 {source="EFO:0000684", source="DOID:1579"}
xref: ICD9:516 {source="EFO:0000684"}
xref: ICD9:516.8 {source="EFO:0000684"}
xref: ICD9:516.9 {source="EFO:0000684"}
xref: ICD9:517 {source="EFO:0000684"}
xref: ICD9:517.8 {source="EFO:0000684"}
xref: ICD9:519 {source="EFO:0000684", source="DOID:1579"}
xref: ICD9:519.1 {source="EFO:0000684"}
xref: ICD9:519.3 {source="EFO:0000684"}
xref: ICD9:519.8 {source="MONDO:relatedTo", source="EFO:0000684", source="i2s"}
xref: ICD9:519.9 {source="EFO:0000684", source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:V12.60 {source="MONDO:equivalentTo", source="i2s"}
xref: ICD9:V47.2 {source="MONDO:relatedTo", source="i2s"}
xref: MESH:D012140 {source="MONDO:equivalentTo"}
xref: MONDO:0005087
xref: NCIT:C26871 {source="EFO:0000684", source="MONDO:equivalentTo"}
xref: NCIt:C26871
xref: SCTID:50043002 {source="EFO:0000684", source="MONDO:equivalentTo"}
xref: SNOMEDCT:50043002
is_a: SIRA:0000001 ! literature services
property_value: closeMatch http://identifiers.org/snomedct/155603009
property_value: closeMatch http://identifiers.org/snomedct/196057004
property_value: closeMatch http://identifiers.org/snomedct/196184000
property_value: closeMatch http://identifiers.org/snomedct/196255004
property_value: closeMatch http://identifiers.org/snomedct/266373008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0029582
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0035204
property_value: exactMatch DOID:1579
property_value: exactMatch http://identifiers.org/mesh/D012140
property_value: exactMatch http://identifiers.org/snomedct/50043002
property_value: exactMatch NCIT:C26871
property_value: gwas:trait "true" xsd:boolean
property_value: IAO:0000117 "James Malone" xsd:string
[Term]
id: EFO:0000771
name: bacterial disease
def: "A bacterial disease is a disease factor that is caused primarily by bacteria." []
def: "An acute infectious disorder that is caused by gram positive or gram negative bacteria; representative examples include pneumococcal, streptococcal, salmonella, and meningeal infections." [NCIT:C2890]
synonym: "Bacteria caused disease or disorder" EXACT [MONDO:patterns/specific_infectious_disease_by_agent]
synonym: "Bacteria disease or disorder" EXACT []
synonym: "Bacteria infectious disease" EXACT []
synonym: "bacterial disease" EXACT [NCIT:C2890]
synonym: "bacterial disorder" EXACT [NCIT:C2890]
synonym: "bacterial infection" EXACT [MESH:D001424, NCIT:C2890]
synonym: "bacterial infectious disease" EXACT [] {comment="preferred label from MONDO"}
synonym: "bacterial infectious disease" EXACT [MONDO:0001026]
synonym: "infection, bacterial" EXACT [MESH:D001424, NCIT:C2890]
synonym: "infections, bacterial" RELATED [MESH:D001424]
xref: COHD:432545 {source="MONDO:equivalentTo"}
xref: DOID:104 {source="MONDO:equivalentTo"}
xref: ICD10:A04
xref: ICD10:A49 {source="DOID:104"}
xref: ICD10:A49.9 {source="DOID:104"}
xref: ICD9:040.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:041.89 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:041.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MESH:D001424 {source="DOID:104", source="MONDO:equivalentTo"}
xref: MONDO:0005113
xref: NCIT:C2890 {source="DOID:104", source="MONDO:equivalentTo"}
xref: SCTID:87628006 {source="DOID:104", source="MONDO:equivalentTo"}
xref: UMLS:C0004623 {source="DOID:104", source="NCIT:C2890", source="MONDO:equivalentTo"}
is_a: SIRA:0000001 ! literature services
property_value: closeMatch http://identifiers.org/snomedct/154318005
property_value: closeMatch http://identifiers.org/snomedct/186470002
property_value: closeMatch http://identifiers.org/snomedct/187347000
property_value: closeMatch http://identifiers.org/snomedct/266182006
property_value: closeMatch http://identifiers.org/snomedct/266187000
property_value: closeMatch http://identifiers.org/snomedct/301811001
property_value: exactMatch DOID:104
property_value: exactMatch http://identifiers.org/mesh/D001424
property_value: exactMatch http://identifiers.org/snomedct/87628006
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0004623
property_value: exactMatch NCIT:C2890
property_value: IAO:0000117 "James Malone" xsd:string
[Term]
id: EFO:0002970
name: muscular disease
def: "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." []
def: "Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE." []
def: "Acquired, familial, and congenital disorders of skeletal muscle and smooth muscle." [MESH:D009135]
def: "Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle." []
comment: Editor note: consider merging with child
synonym: "disease of muscle organ" EXACT [MONDO:patterns/location_top]
synonym: "disease or disorder of muscle organ" EXACT []
synonym: "disorder of muscle organ" EXACT [MONDO:patterns/location_top]
synonym: "MUSCLE DIS" EXACT []
synonym: "Muscle Disorder" EXACT []
synonym: "Muscle Disorders" EXACT []
synonym: "muscle organ disease" EXACT [MONDO:patterns/location]
synonym: "muscle organ disease or disorder" EXACT [MONDO:design_pattern, MONDO:patterns/location]
synonym: "MUSCULAR DIS" EXACT []
synonym: "muscular disease" EXACT [] {comment="preferred label from MONDO"}
synonym: "Muscular Diseases" EXACT []
synonym: "Myopathic Condition" EXACT []
synonym: "Myopathic Conditions" EXACT []
xref: DOID:0080000 {source="EFO:0002970", source="MONDO:equivalentTo"}
xref: ICD10:G71
xref: ICD10:M62
xref: MESH:D009135 {source="EFO:0002970", source="MONDO:equivalentTo"}
xref: MeSH:D009135
xref: MONDO:0005218
is_a: SIRA:0000001 ! literature services
property_value: exactMatch DOID:0080000
property_value: exactMatch http://identifiers.org/mesh/D009135
property_value: excluded_subClassOf MONDO:0005172 {source="EFO:0002970"}
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
[Term]
id: EFO:0003106
name: pneumonia
def: "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from infection with bacteria, viruses, fungi or parasites. It is accompanied by fever, chills, cough, and difficulty in breathing." []
def: "An acute, acute and chronic, or chronic inflammation focally or diffusely affecting the lung parenchyma, caused by an infection in one or both of the lungs (by bacteria, viruses, fungi, or mycoplasma.). Symptoms include cough, shortness of breath, fevers, chills, chest pain, headache, sweating, and weakness." [NCIT:P378]
synonym: "acute pneumonia" EXACT []
synonym: "acute pneumonia" NARROW [DOID:552]
synonym: "chest infection due to pneumonia" EXACT []
synonym: "pneumonia" EXACT [] {comment="preferred label from MONDO"}
synonym: "Pneumonia (disorder)" EXACT []
synonym: "Pneumonia (disorder) [Ambiguous]" EXACT []
synonym: "Pneumonia due to other specified organism" EXACT []
synonym: "Pneumonia due to other specified organisms" EXACT []
synonym: "Pneumonia due to other specified organisms (disorder)" EXACT []
synonym: "Pneumonia NOS" EXACT []
synonym: "Pneumonia NOS (disorder)" EXACT []
synonym: "pneumonia with infectious disease" EXACT []
synonym: "Pneumonitis" EXACT []
synonym: "Pneumonitis (disorder)" EXACT []
xref: COHD:255848 {source="MONDO:equivalentTo"}
xref: DOID:552 {source="EFO:0003106", source="MONDO:equivalentTo"}
xref: ICD10:J15 {source="MONDO:equivalentTo"}
xref: ICD10:J18
xref: ICD9:483 {source="EFO:0003106"}
xref: ICD9:483.8 {source="EFO:0003106"}
xref: ICD9:484.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:486 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10035664
xref: MedDRA:10035739
xref: MESH:D011014 {source="EFO:0003106", source="MONDO:equivalentTo", source="DOID:552"}
xref: MeSH:D011014
xref: MONDO:0005249
xref: NCIT:C3333 {source="EFO:0003106", source="MONDO:equivalentTo", source="DOID:552"}
xref: NCIt:C3333
xref: SCTID:233604007 {source="EFO:0003106", source="MONDO:equivalentTo", source="DOID:552"}
xref: SNOMEDCT:233604007
xref: UMLS:C0032285 {source="MONDO:equivalentTo", source="NCIT:C3333", source="DOID:552"}
is_a: EFO:0000684 ! respiratory system disease
property_value: closeMatch http://identifiers.org/snomedct/155548002
property_value: closeMatch http://identifiers.org/snomedct/155552002
property_value: closeMatch http://identifiers.org/snomedct/155558003
property_value: closeMatch http://identifiers.org/snomedct/266391003
property_value: closeMatch http://identifiers.org/snomedct/274103002
property_value: closeMatch http://identifiers.org/snomedct/60363000
property_value: exactMatch DOID:552
property_value: exactMatch http://identifiers.org/mesh/D011014
property_value: exactMatch http://identifiers.org/snomedct/233604007
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0032285
property_value: exactMatch NCIT:C3333
property_value: excluded_subClassOf MONDO:0005275 {source="DOID:552", source="MESH:D011014", source="MONDO:Redundant", source="NCIT:C3333/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"}
property_value: gwas:trait "true" xsd:boolean
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
[Term]
id: EFO:0003821
name: migraine disorder
def: "A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" []
def: "A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity." [NCIT:C89715]
synonym: "Abdominal Migraine" EXACT []
synonym: "Abdominal Migraines" EXACT []
synonym: "Acute Confusional Migraine" EXACT []
synonym: "Acute Confusional Migraines" EXACT []
synonym: "Cervical Migraine Syndrome" EXACT []
synonym: "Cervical Migraine Syndromes" EXACT []
synonym: "Disorder, Migraine" EXACT []
synonym: "Disorders, Migraine" EXACT []
synonym: "Headache, Migraine" EXACT []
synonym: "Headache, Sick" EXACT []
synonym: "Headaches, Migraine" EXACT []
synonym: "Headaches, Sick" EXACT []
synonym: "Hemicrania Migraine" EXACT []
synonym: "Hemicrania Migraines" EXACT []
synonym: "Migraine" EXACT []
synonym: "migraine" EXACT [NCIT:C89715]
synonym: "migraine disorder" EXACT [DOID:6364]
synonym: "migraine disorder" EXACT [] {comment="preferred label from MONDO"}
synonym: "Migraine Disorders" EXACT []
synonym: "Migraine Headache" EXACT []
synonym: "migraine headache" EXACT [NCIT:C89715]
synonym: "Migraine Headaches" EXACT []
synonym: "Migraine Syndrome, Cervical" EXACT []
synonym: "Migraine Syndromes, Cervical" EXACT []
synonym: "Migraine Variant" EXACT []
synonym: "migraine variant" EXACT [DOID:6364]
synonym: "Migraine Variants" EXACT []
synonym: "migraine with or without aura" EXACT [DOID:6364]
synonym: "Migraine, Abdominal" EXACT []
synonym: "Migraine, Acute Confusional" EXACT []
synonym: "Migraine, Hemicrania" EXACT []
synonym: "Migraines" EXACT []
synonym: "Migraines, Abdominal" EXACT []
synonym: "Migraines, Acute Confusional" EXACT []
synonym: "Migraines, Hemicrania" EXACT []
synonym: "Sick Headache" EXACT []
synonym: "Sick Headaches" EXACT []
synonym: "Status Migrainosus" EXACT []
synonym: "Variant, Migraine" EXACT []
synonym: "Variants, Migraine" EXACT []
xref: DOID:6364 {source="EFO:0003821", source="MONDO:equivalentTo"}
xref: ICD10:G43 {source="DOID:6364"}
xref: ICD10:G43.9 {source="DOID:6364"}
xref: ICD10:G43.909 {source="DOID:6364"}
xref: ICD9:346 {source="EFO:0003821", source="DOID:6364"}
xref: ICD9:346.9 {source="DOID:6364"}
xref: MESH:D008881 {source="EFO:0003821", source="MONDO:equivalentTo", source="DOID:6364"}
xref: MeSH:D008881
xref: MONDO:0005277
xref: NCIt:C113482
xref: NCIT:C89715 {source="EFO:0003821", source="MONDO:equivalentTo", source="DOID:6364"}
xref: NCIt:C89715
xref: OMIM:157300
xref: OMIM:613656
xref: SNOMEDCT:193028008
xref: SNOMEDCT:193030005
xref: SNOMEDCT:230467008
xref: SNOMEDCT:37796009
xref: SNOMEDCT:75879005
xref: SNOMEDCT:95653008
is_a: EFO:0000618 ! nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/155046006
property_value: closeMatch http://identifiers.org/snomedct/155048007
property_value: closeMatch http://identifiers.org/snomedct/193028008
property_value: closeMatch http://identifiers.org/snomedct/193030005
property_value: closeMatch http://identifiers.org/snomedct/193036004
property_value: closeMatch http://identifiers.org/snomedct/193041007
property_value: closeMatch http://identifiers.org/snomedct/230467008
property_value: closeMatch http://identifiers.org/snomedct/267699004
property_value: closeMatch http://identifiers.org/snomedct/75879005
property_value: closeMatch http://identifiers.org/snomedct/95653008
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0042331
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0149931
property_value: exactMatch DOID:6364
property_value: exactMatch http://identifiers.org/mesh/D008881
property_value: exactMatch NCIT:C113482
property_value: exactMatch NCIT:C89715
property_value: gwas:trait "true" xsd:string
property_value: IAO:0000117 "Tomasz Adamusiak" xsd:string
[Term]
id: EFO:0004149
name: neuropathy
def: "A disorder affecting the nervous system that manifests with pain, tingling, numbness, and/or muscle weakness." []
xref: DOID:870
xref: ICD10:G60
xref: MedDRA:10029328
xref: MedDRA:10062940
xref: NCIt:C4731
xref: OMIM:618184
xref: OMIM:618186
xref: SNOMEDCT:386033004
is_a: EFO:0000618 ! nervous system disease
property_value: gwas:trait "true" xsd:boolean
[Term]
id: EFO:0004255
name: nephrotic syndrome
def: "A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction." [NCIT:C34845]
def: "A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction." []
synonym: "nephrosis" RELATED [NCIT:C34845]
synonym: "nephrotic syndrome" EXACT [] {comment="preferred label from MONDO"}
synonym: "nephrotic syndrome" EXACT [NCIT:C34845]
synonym: "nephrotic syndrome (acquired)" EXACT []
synonym: "nephrotic syndromes" EXACT [MESH:D009404]
synonym: "syndrome, nephrotic" EXACT [MESH:D009404]
synonym: "syndromes, nephrotic" EXACT [MESH:D009404]
xref: COHD:195314 {source="MONDO:equivalentTo"}
xref: DOID:1184 {source="EFO:0004255", source="MONDO:equivalentTo"}
xref: ICD10:N04 {source="DOID:1184"}
xref: ICD9:581 {source="EFO:0004255", source="DOID:1184"}
xref: ICD9:581.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10029164
xref: MESH:D009404 {source="EFO:0004255", source="MONDO:equivalentTo", source="DOID:1184"}
xref: MeSH:D009404
xref: MONDO:0005377
xref: NCIT:C34845 {source="EFO:0004255", source="MONDO:equivalentTo", source="DOID:1184"}
xref: NCIt:C34845
xref: OMIM:615861
xref: OMIM:617783
xref: OMIM:618176
xref: OMIM:618177
xref: OMIM:618178
xref: OMIM:618594
xref: SCTID:52254009 {source="EFO:0004255", source="MONDO:equivalentTo", source="DOID:1184"}
xref: SNOMEDCT:52254009
xref: UMLS:C0027726 {source="MONDO:equivalentTo", source="DOID:1184", source="NCIT:C34845"}
is_a: SIRA:0000001 ! literature services
property_value: closeMatch http://identifiers.org/snomedct/155851004
property_value: closeMatch http://identifiers.org/snomedct/197611005
property_value: exactMatch DOID:1184
property_value: exactMatch http://identifiers.org/mesh/D009404
property_value: exactMatch http://identifiers.org/snomedct/52254009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0027726
property_value: exactMatch NCIT:C34845
property_value: gwas:trait "true" xsd:string
property_value: IAO:0000117 "Dani Welter" xsd:string
[Term]
id: EFO:0004280
name: movement disorder
def: "Neurological conditions resulting in abnormal voluntary or involuntary movement, which may impact the speed, fluency, quality and ease of movement." [NCIT:C116757]
def: "Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions." []
synonym: "movement disease" EXACT [MONDO:0003151]
synonym: "movement disorder" EXACT [] {comment="preferred label from MONDO"}
synonym: "movement disorders" EXACT [NCIT:C116757]
synonym: "tardive dyskinesia" EXACT []
xref: COHD:372604 {source="MONDO:equivalentTo"}
xref: DOID:480 {source="MONDO:equivalentTo"}
xref: ICD10:G25
xref: ICD9:333.90 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:333.99 {source="MONDO:relatedTo", source="i2s"}
xref: MedDRA:10028035
xref: MESH:D009069 {source="DOID:480", source="MONDO:equivalentTo", source="EFO:0004280"}
xref: MeSH:D009069
xref: MONDO:0005395
xref: NCIT:C116757 {source="DOID:480", source="MONDO:equivalentTo", source="EFO:0004280", source="exact-label-match"}
xref: NCIt:C116757
xref: SCTID:60342002 {source="DOID:480", source="MONDO:equivalentTo", source="EFO:0004280"}
xref: SNOMEDCT:60342002
is_a: EFO:0000618 ! nervous system disease
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0026650
property_value: exactMatch DOID:480
property_value: exactMatch http://identifiers.org/mesh/D009069
property_value: exactMatch http://identifiers.org/snomedct/60342002
property_value: exactMatch NCIT:C116757
property_value: gwas:trait "true" xsd:string
property_value: IAO:0000117 "Dani Welter" xsd:string
[Term]
id: EFO:0004292
name: vaccination
def: "A process that involves adding vaccine into a host (e.g., human, mouse) in vivo with the intent to invoke a protective immune response." []
synonym: "active immunization" EXACT []
xref: ICD10:Z24
xref: ICD10:Z25
xref: ICD10:Z26
xref: ICD10:Z27
xref: MeSH:D014611
xref: NCIt:C15346
xref: obo:VO_0000002
xref: SNOMEDCT:33879002
is_a: SIRA:0000001 ! literature services
property_value: gwas:trait "true" xsd:string
property_value: IAO:0000117 "Dani Welter" xsd:string
[Term]
id: EFO:0004323
name: mental process
def: "Conceptual functions or thinking in all its forms." []
synonym: "human information processing" EXACT []
synonym: "Mental Processes" EXACT []
synonym: "mental processes" EXACT []
xref: MeSH:D008606
xref: NCIt:C16840
is_a: SIRA:0000001 ! literature services
property_value: gwas:trait "true" xsd:string
property_value: IAO:0000117 "Dani Welter" xsd:string
[Term]
id: EFO:0005251
name: hypotension
def: "Blood pressure that is abnormally low." [NCIT:P378]
synonym: "hypotension" EXACT [MONDO:ambiguous]
synonym: "hypotension (disease)" EXACT [https://github.com/monarch-initiative/mondo/issues/1030]
synonym: "hypotensive disorder" EXACT [] {comment="preferred label from MONDO"}
synonym: "low blood pressure" EXACT []
xref: HP:0002615 {source="MONDO:otherHierarchy"}
xref: ICD10:I95
xref: ICD9:458 {source="EFO:0005251"}
xref: ICD9:458.8 {source="MONDO:relatedTo", source="i2s"}
xref: ICD9:458.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10021097
xref: MedDRA:10021106
xref: MESH:D007022 {source="MONDO:equivalentTo", source="EFO:0005251"}
xref: MeSH:D007022
xref: MONDO:0005468
xref: NCIt:C3128
xref: SCTID:45007003 {source="MONDO:equivalentTo", source="EFO:0005251"}
xref: SNOMEDCT:45007003
is_a: SIRA:0000001 ! literature services
property_value: exactMatch http://identifiers.org/mesh/D007022
property_value: exactMatch http://identifiers.org/snomedct/45007003
property_value: exactMatch NCIT:C3128
property_value: excluded_subClassOf MONDO:0004995 {source="EFO:0005251", source="MESH:D007022/inferred", source="linkedlifedata"}
[Term]
id: EFO:0005549
name: diphtheria
def: "A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects." [NCIT:P378]
def: "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys." []
subset: gard_rare {source="GARD:0001875"}
subset: ordo_disease {source="Orphanet:1679"}
synonym: "Corynebacterium infection" EXACT [DOID:11405]
synonym: "corynebacterium infection" EXACT []
synonym: "diphtheria" EXACT [] {comment="preferred label from MONDO"}
xref: COHD:434568 {source="MONDO:equivalentTo"}
xref: DOID:11405 {source="MONDO:equivalentTo", source="EFO:0005549"}
xref: GARD:0001875 {source="MONDO:equivalentTo"}
xref: ICD10:A36 {source="MONDO:equivalentTo"}
xref: ICD10:A36.0 {source="ORDO:1679/btnt", source="Orphanet:1679"}
xref: ICD10:A36.1 {source="ORDO:1679/btnt", source="Orphanet:1679"}
xref: ICD10:A36.2 {source="ORDO:1679/btnt", source="Orphanet:1679"}
xref: ICD10:A36.3 {source="ORDO:1679/btnt", source="MONDO:relatedTo", source="Orphanet:1679"}
xref: ICD10:A36.8 {source="ORDO:1679/btnt", source="Orphanet:1679"}
xref: ICD10:A36.9 {source="ORDO:1679/btnt", source="Orphanet:1679"}
xref: ICD9:032 {source="EFO:0005549"}
xref: ICD9:032.9 {source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10013023 {source="Orphanet:1679", source="ORDO:1679/e"}
xref: MedDRA:10013025
xref: MESH:D004165 {source="DOID:11405", source="MONDO:equivalentTo", source="Orphanet:1679", source="EFO:0005549", source="ORDO:1679/e"}
xref: MeSH:D004165
xref: MONDO:0005504
xref: NCIT:C34541 {source="MONDO:equivalentTo", source="EFO:0005549"}
xref: NCIt:C34541
xref: Orphanet:1679 {source="MONDO:equivalentTo"}
xref: SCTID:397428000 {source="MONDO:equivalentTo", source="EFO:0005549"}
xref: SNOMEDCT:397428000
xref: UMLS:C0012546 {source="MONDO:equivalentTo", source="NCIT:C34541", source="Orphanet:1679", source="ORDO:1679/e"}
is_a: EFO:0000771 ! bacterial disease
property_value: closeMatch http://identifiers.org/mesh/D003354
property_value: closeMatch http://identifiers.org/snomedct/397434007
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0010153
property_value: exactMatch DOID:11405
property_value: exactMatch http://identifiers.org/meddra/10013023
property_value: exactMatch http://identifiers.org/mesh/D004165
property_value: exactMatch http://identifiers.org/snomedct/397428000
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0012546
property_value: exactMatch NCIT:C34541
property_value: exactMatch Orphanet:1679
property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1875/diphtheria xsd:anyURI {source="GARD:0001875"}
[Term]
id: EFO:0005577
name: pharynx cancer
def: "A primary or metastatic malignant neoplasm that affects the pharynx." [NCIT:C7545]
synonym: "cancer of chordate pharynx" EXACT [MONDO:patterns/cancer]
synonym: "cancer of pharynx" EXACT [MONDO:patterns/cancer]
synonym: "chordate pharynx cancer" EXACT []
synonym: "malignant chordate pharynx neoplasm" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of chordate pharynx" EXACT [MONDO:patterns/cancer]
synonym: "malignant neoplasm of pharynx" EXACT [MONDO:patterns/cancer]
synonym: "Malignant Pharyngeal Neoplasm" EXACT []
synonym: "malignant pharyngeal neoplasm" EXACT [NCIT:C7545]
synonym: "Malignant Pharyngeal Tumor" EXACT []
synonym: "malignant pharyngeal tumor" EXACT [NCIT:C7545]
synonym: "Malignant Pharynx Neoplasm" EXACT []
synonym: "malignant pharynx neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7545]
synonym: "Malignant Pharynx Tumor" EXACT []
synonym: "malignant pharynx tumor" EXACT [NCIT:C7545]
synonym: "Malignant Tumor of Pharynx" EXACT []
synonym: "malignant tumor of pharynx" EXACT [NCIT:C7545]
synonym: "Malignant Tumor of the Pharynx" EXACT []
synonym: "malignant tumor of the pharynx" EXACT [NCIT:C7545]
synonym: "pharyngeal cancer" RELATED [DOID:0060119]
synonym: "pharyngeal neoplasm" EXACT [DOID:0060119]
synonym: "pharynx cancer" EXACT [MONDO:patterns/location]
synonym: "pharynx cancer" EXACT [] {comment="preferred label from MONDO"}
synonym: "pharynx neoplasm" BROAD [DOID:0060119]
xref: DOID:0060119 {source="EFO:0005577", source="MONDO:equivalentTo"}
xref: MESH:D010610 {source="MONDO:equivalentTo", source="DOID:0060119"}
xref: MONDO:0005517
xref: NCIT:C7545 {source="EFO:0005577", source="MONDO:equivalentTo"}
xref: NCIt:C7545
xref: SNOMEDCT:363507003
is_a: EFO:0000684 ! respiratory system disease
property_value: closeMatch http://identifiers.org/snomedct/126685009
property_value: closeMatch http://identifiers.org/snomedct/363507003
property_value: closeMatch http://identifiers.org/snomedct/95001001
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0031347
property_value: closeMatch http://linkedlifedata.com/resource/umls/id/C0153405
property_value: exactMatch DOID:0060119
property_value: exactMatch http://identifiers.org/mesh/D010610
property_value: exactMatch NCIT:C7545
property_value: gwas:trait "true" xsd:string
[Term]
id: EFO:0007167
name: Bell's palsy
def: "A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve)." []
def: "Partial or complete paralysis of the facial muscles of one side of a person's face. It is caused by damage to the seventh cranial nerve. It is usually temporary but it may recur." [NCIT:C26769]
synonym: "Bell Palsy" EXACT []
synonym: "Bell palsy" EXACT [DOID:12506]
synonym: "Bell's (facial) palsy" EXACT [DOID:12506]
synonym: "Bell's palsy" EXACT [] {comment="preferred label from MONDO"}
synonym: "facial nerve palsy" EXACT [MONDO:patterns/location, NCIT:C26769]
synonym: "facial nerve paralysis" EXACT [NCIT:C26769]
synonym: "facial palsy" EXACT [NCIT:C26769]
synonym: "nerve paralysis, Facial" EXACT [NCIT:C26769]
synonym: "palsy of facial nerve" EXACT [MONDO:design_pattern]
synonym: "paralysis Of Facial nerve" EXACT [NCIT:C26769]
xref: COHD:374923 {source="MONDO:equivalentTo"}
xref: DOID:12506 {source="MONDO:equivalentTo", source="EFO:0007167"}
xref: GARD:0005906 {source="MONDO:equivalentTo"}
xref: ICD10:G51.0 {source="DOID:12506", source="MONDO:equivalentTo"}
xref: ICD9:351.0 {source="DOID:12506", source="MONDO:equivalentTo", source="i2s"}
xref: MedDRA:10004223
xref: MESH:D020330 {source="DOID:12506", source="MONDO:equivalentTo", source="EFO:0007167"}
xref: MeSH:D020330
xref: MONDO:0005665
xref: NCIT:C26769 {source="MONDO:equivalentTo"}
xref: SCTID:193093009 {source="DOID:12506", source="MONDO:equivalentTo"}
xref: UMLS:C0376175 {source="DOID:12506", source="MONDO:equivalentTo", source="NCIT:C26769"}
is_a: EFO:0000618 ! nervous system disease
property_value: closeMatch http://identifiers.org/snomedct/155070005
property_value: closeMatch http://identifiers.org/snomedct/267703001
property_value: closeMatch http://identifiers.org/snomedct/79359001
property_value: exactMatch DOID:12506
property_value: exactMatch http://identifiers.org/mesh/D020330
property_value: exactMatch http://identifiers.org/snomedct/193093009
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0376175
property_value: exactMatch NCIT:C26769
property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string
[Term]
id: EFO:0007227
name: croup
def: "A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus." []
def: "Acute upper respiratory airways infection that results in the swelling of the larynx. It is usually caused by parainfluenza viruses. Signs include a characteristic barking cough and stridor." [NCIT:C26735]
synonym: "acute laryngotracheitis" RELATED []
synonym: "acute laryngotracheobronchitis" EXACT [DOID:9395, http://cmr.asm.org/content/16/2/242.full]
synonym: "acute Obstructive Laryngitis" EXACT []
synonym: "acute obstructive laryngitis" EXACT [DOID:9395, NCIT:C26735]
synonym: "Croup" EXACT []
synonym: "croup" EXACT [] {comment="preferred label from MONDO"}
synonym: "Croup (disorder)" EXACT []
synonym: "Croup syndrome" EXACT []
synonym: "croup syndrome" EXACT [DOID:9395, MTHICD9_2006:464.4]
synonym: "Laryngotracheobronchitis" EXACT []
xref: COHD:260134 {source="MONDO:equivalentTo"}
xref: DOID:9395 {source="EFO:0007227", source="MONDO:equivalentTo"}
xref: ICD10:J05.0 {source="DOID:9395"}
xref: ICD9:464.4 {source="MONDO:equivalentTo", source="DOID:9395", source="i2s"}
xref: MedDRA:10011415
xref: MESH:D003440 {source="EFO:0007227", source="MONDO:equivalentTo", source="DOID:9395"}
xref: MeSH:D003440
xref: MONDO:0005722
xref: NCIT:C26735 {source="MONDO:equivalentTo", source="DOID:9395"}
xref: SCTID:71186008 {source="MONDO:equivalentTo", source="DOID:9395"}
xref: UMLS:C0010380 {source="MONDO:equivalentTo", source="DOID:9395", source="NCIT:C26735"}
is_a: EFO:0000771 ! bacterial disease
is_a: EFO:1002018 ! bronchial disease
property_value: closeMatch http://identifiers.org/snomedct/155510007
property_value: closeMatch http://identifiers.org/snomedct/195702002
property_value: exactMatch DOID:9395
property_value: exactMatch http://identifiers.org/mesh/D003440
property_value: exactMatch http://identifiers.org/snomedct/71186008
property_value: exactMatch http://linkedlifedata.com/resource/umls/id/C0010380
property_value: exactMatch NCIT:C26735
property_value: IAO:0000117 "Sirarat Sarntivijai" xsd:string
[Term]
id: EFO:0007292
name: Guillain-Barre syndrome
def: "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system." []
def: "Guillain-BarrC) syndrome (GBS) is the term used to describe a spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants." [Orphanet:2103]