Pain
Basic details
Preferred term: Pain
Alt. terms:
HPO term: Pain
HPO code: HP:0012531
GenIA ID: 335
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
Hierarchical classification
PARENT terms
TERM
Pain
CHILD terms
- Fibromyalgia
- Arthralgia
- Low back pain
- Lower limb pain
- Sciatica
- Cervicalgia
- Headaches
- Angina pectoris
- Abdominal pain
- Chest pain
- Bone pain
- Hip pain
- Myalgia
- Back pain
- Costochondral pain
- Limb pain
- Chronic pain
- Allodynia
- Scrotal pain
- Flank pain
- Shoulder pain
- Vulvodynia
- Groin pain
- Erythromelalgia
- Episodic pain
- Bladder pain
- Tendon pain
- Pharyngalgia
- Neuralgia
- Testicular pain
- Jaw pain
- Pain in head and neck region
- Mandibular pain
- Epigastric pain
- Anal pain
- Pelvic pain
- Nipple tenderness
- Mastalgia
- Buttock pain
- Eyelid pain
- Pain in penis
- Costovertebral angle tenderness
- Cervical motion tenderness
- Painful defecation
- Forearm
Reported patients added to GenIA DB
| SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
|---|---|---|---|---|---|---|---|
| 101017 | F | 210232 | - | German | Arthralgia | PMID:34975878 [Fam.F003:P003] | |
| 101019 | F | 210316 | 54 | German | Arthralgia | PMID:34975878 [Fam.F004:P004] | |
| 101023 | M | 210731 | 51 | German | Arthralgia | PMID:34975878 [Fam.F008:P008] | |
| 101027 | M | 211035 | 44 | Arthralgia | PMID:34975878 [Fam.F012:P012] | ||
| 101028 | F | 210750 | - | German | Arthralgia | PMID:34975878 [Fam.F013:P013] | |
| 101040 | F | 210724 |
- | Caucasian | Headaches | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.GG:II.1(GG.II.1 (79))]; PMID:31857261 [Patient 15]; PMID:34111452 [AG.II.1 (79)] |
| 101051 | F | 210205 |
- | Caucasian | Arthralgia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.5(A.III.1)]; PMID:30250467 [A.III.1]; PMID:29729943 [Fam.A:III.5(A.III.1 (8))]; PMID:34975878 [Fam.F018:III.1(P021)]; PMID:27418640 [P10(5)]; PMID:34111452 [A.III.1 (8)] |
| 101078 | F | 211301 | 48 | Arthralgia | PMID:34975878 [Fam.F044:P044] | ||
| 101085 | F | 210196 | 37 | Fibromyalgia | PMID:34975878 [Fam.F051:P051] | ||
| 101129 | F | 210906 | 45 | German | Arthralgia | PMID:34975878 [Fam.F078:P078] | |
| 101143 | F | 211219 | - | Fibromyalgia | PMID:34975878 [Fam.F088:P088] | ||
| 101379 | M | 212163 | - | Iranian | Arthralgia | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.2:II.2(P3)]; PMID:26707784 [Fam.C:IV.4(P25)]; PMID:26993986 [F4]; PMID:28512785 [P10] |
| 101410 | F | 210902 | - | German | Fibromyalgia | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F141:P141]; PMID:28493328 [P4] |
| 101435 | F | 212171 | 5 | Lebanese | Arthralgia | Immunodeficiency, common variable, 8 | PMID:26707784 [P29(II.1)] |
| 101469 | F | 210220 |
- | German | Arthralgia | NFKB1 insufficiency | PMID:34975878 [Fam.F156:P156]; PMID:32278790 [Fam.089:II.2(II.2)]; PMID:26279205 [Fam.089:II.2(II2)]; PMID:29403474 [Fam.089 (5):II.2(II2)]; PMID:27923702 [Patient 5]; PMID:150198 [Fam.AB:IV.5(099)]; PMID:27461466 [Fam.089:II.2(25)] |
| 101543 | F | 210011 | 22 | Arthralgia | PMID:34975878 [Fam.F179:P179] | ||
| 101579 | F | 210773 | 4 | Turkish | Arthralgia | Adenosine deaminase 2 deficiency | PMID:28493328 [P1]; PMID:31857261 [Patient 13] |
| 101617 | M | 210994 | 54 | Angina pectoris | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F212:P212] | |
| 101713 | F | 212643 | - | Jordanian | Arthralgia | Agammaglobulinemia 4 | PMID:25893637 [Fam.P1:II.5(P2)] |
| 101717 | F | 210260 |
7 | Caucasian | Abdominal pain | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.C:II.3(C.II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)]; PMID:34111452 [C.II.3 (19)] |
| 101757 | M | 210026 | - | North American | Abdominal pain | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.605:P14]; PMID:26206937 [P3] |
| 101802 | F | 211221 |
- | German | Abdominal pain | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)] |
| 101807 | F | 211431 | - | Arthralgia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F264:P264] | |
| 101817 | F | 211536 | - | Myalgia | PMID:34975878 [Fam.F279:P279] | ||
| 101819 | F | 211386 | 54 | Chest pain | Immunodeficiency, common variable, 2 | PMID:31057532 [Fam.F:I.2] | |
| 101982 | F | 214072 | - | Omani | Headaches | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES06] |
| 102154 | U | 214596 | - | Armenian | Abdominal pain | Familial Cold Autoinflammatory Syndrome 2 | PMID:21538323 [P1] |
| 102155 | U | 214597 | - | Italian | Abdominal pain | Familial Cold Autoinflammatory Syndrome 2 | PMID:21538323 [P2] |
| 102224 | F | 214919 | 53 | German | Sciatica | DiGeorge syndrome | PMID:35486341 [P017] |
| 102984 | F | 215074 |
16 | European/American | Abdominal pain | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
| 103005 | M | 215081 |
- | North American | Headaches | ?Chronic infections and chronic pelvic pain | PMID:23861857 [Patient(II.1)] |
| 103288 | F | 215113 |
20 | Hungarian | Abdominal pain | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.3:II.1(P4)] |
| 103293 | M | 215115 | 46 | Shoulder pain | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P6] | |
| 103454 | M | 215130 |
7 | Saudi | Arthralgia | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.2:II.2(P2)] |
| 103542 | M | 215156 |
5 | Mexican | Abdominal pain | ARPC1B deficiency | PMID:36708766 [Fam.C:II.3(P5)] |
| 103731 | F | 215232 |
5 | Georgian Jewish | Abdominal pain | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.A:III.3(A-III-3)] |
| 103732 | M | 215232 |
1 | Georgian Jewish | Myalgia | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.A:III.4(A-III-4)] |
| 103733 | F | 215233 |
4 | Georgian Jewish | Myalgia | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.B:III.1(B-III-1)] |
| 103740 | F | 215233 |
3 | Georgian Jewish | Myalgia | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.B:III.2(B-III-2)] |
| 103741 | F | 215233 |
0 | Georgian Jewish | Abdominal pain | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.B:III.3(B-III-3)] |
| 103744 | F | 215233 |
0 | Georgian Jewish | Abdominal pain | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.B:III.6(B-III-6)] |
| 103745 | M | 215234 |
7 | Georgian Jewish | Abdominal pain | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.C:II.3(C-II-3)] |
| 103759 | M | 215235 |
- | Georgian Jewish | Arthralgia | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.D:III.3(D-III-3)] |
| 103768 | M | 215235 |
1 | Georgian Jewish | Myalgia | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.D:IV.6(D-IV-6)] |
| 103769 | M | 215235 |
4 | Georgian Jewish | Testicular pain | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.D:V.1(D-V-1)] |
| 103773 | F | 215236 |
- | Georgian Jewish | Abdominal pain | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.E:II.2(E-II-2)] |
| 103776 | F | 215237 |
1 | German | Arthralgia | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.F:II.1(F-II-1)] |
| 103780 | M | 215237 |
13 | German | Arthralgia | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.F:II.3(F-II-3)] |
| 103782 | M | 215237 |
- | German | Lower limb pain | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.F:II.5(F-II-5)] |
| 103783 | F | 215238 | - | Georgian Jewish | Arthralgia | Adenosine deaminase 2 deficiency | PMID:24552285 [S-1] |
| 103785 | M | 215240 | - | Georgian Jewish | Arthralgia | Adenosine deaminase 2 deficiency | PMID:24552285 [S-3] |
| 103786 | M | 215241 | 10 | Turkish | Myalgia | Adenosine deaminase 2 deficiency | PMID:24552285 [T-1] |
| 103819 | F | 215253 | - | Turkish | Headaches | Adenosine deaminase 2 deficiency | PMID:24737293 [case] |
| 103820 | M | 215254 |
- | French | Arthralgia | Adenosine deaminase 2 deficiency | PMID:25278816 [Fam.F785:II.5(P1)] |
| 103827 | M | 215255 |
4 | Pakistani | Headaches | Adenosine deaminase 2 deficiency | PMID:25278816 [Fam.F750:II.1(P2)] |
| 103855 | F | 215262 |
- | Turkish | Arthralgia | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.7:II.1(P7)]; PMID:26233953 [Fam.F2:II.2(P2)] |
| 103858 | M | 215262 |
- | Turkish | Arthralgia | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.7:II.2(P8)]; PMID:26233953 [Fam.F2:II.1(P3)] |
| 103859 | M | 215263 |
- | Turkish | Arthralgia | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.8:II.1(P9)]; PMID:26233953 [Fam.F4:P5] |
| 103877 | F | 215266 |
12 | Finnish | Myalgia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2] |
| 103880 | F | 215269 |
1 | Finnish | Abdominal pain | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
| 104229 | F | 215420 |
42 | German | Abdominal pain | Polycystic liver disease 5 with or without kidney disease | PMID:36478640 [II.3(II.3)] |
| 104237 | M | 215421 |
- | European/American | Arthralgia | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [ref.8]; PMID:36932076 [P1(II.3)]; GRID:000818 [Patient]; GRID:000819 [pt.1] |
| 104296 | M | 215449 |
2 | Chinese (China) | Abdominal pain | Hyper-IgE recurrent infection syndrome 1 | PMID:21107604 [Case(II.1)] |
| 104307 | F | 215451 |
17 | North American | Headaches | Hyper-IgE recurrent infection syndrome 1 | PMID:19483664 [Patient(II.1)]; PMID:26292779 [Co2] |
| 104351 | M | 215490 | 10 | Caucasian | Abdominal pain | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H1] |
| 104352 | F | 215491 | 13 | Caucasian | Abdominal pain | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H2] |
| 104353 | M | 215492 | 19 | Asian | Headaches | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [Cr1] |
| 104354 | F | 215493 | 5 | Caucasian | Headaches | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [Co1] |
| 104392 | F | 215520 |
- | French | Abdominal pain | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [Patient] |
| 104395 | M | 215521 |
- | British | Arthralgia | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [ref.9]; PMID:36932076 [P2(II.1)]; GRID:000819 [pt.2] |
| 104410 | M | 215525 |
4 | Japanese | Abdominal pain | Early-onset atopic inflammation | PMID:36538978 [Patient(II.2)] |
| 104453 | F | 215530 |
15 | European | Abdominal pain | Early-onset atopic inflammation | PMID:36884218 [Fam.D:II.1(P5)] |
| 104535 | M | 215547 |
14 | Reunionese | Arthralgia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.D:II.1(Patient D1)] |
| 104538 | M | 215547 |
9 | Reunionese | Arthralgia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.D:II.2(Patient D2)] |
| 104540 | M | 215549 |
5 | North African | Myalgia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.F:II.1(Patient F)] |
| 104554 | M | 215551 |
- | Pakistani | Arthralgia | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:V.2(V:2)]; PMID:27559085 [Fam.1:V.2(P1)]; PMID:35587511 [Fam.G:II.2(4)]; PMID:34797715 [P1]; PMID:38914362 [Fam.A:V.2(023)] |
| 104568 | F | 215551 |
- | Pakistani | Arthralgia | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:IV.3(IV:3)]; PMID:32231246 [IV:3(IV.3)]; PMID:27559085 [Fam.1:IV.1(P4)]; PMID:38914362 [Fam.A:V.6(027)] |
| 104575 | F | 215552 |
- | Turkish | Arthralgia | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27559085 [Fam.2:II.1(P2)]; PMID:35587511 [Fam.I:II.2(4)]; PMID:34797715 [P2]; PMID:38914362 [Fam.B:II.1(035)] |
| 104580 | F | 215553 |
- | Turkish | Arthralgia | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27559085 [Fam.3:II.1(P3)]; PMID:35587511 [Fam.H:II.1(3)]; PMID:34797715 [P3]; PMID:38914362 [Fam.C:II.1(039)] |
| 104612 | M | 215557 |
7 | Greek | Abdominal pain | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:35170849 [Patient(II.2)]; PMID:38914362 [Fam.F:II.2(069)] |
| 104639 | F | 215562 | 3 | Iraqi | Abdominal pain | Immunodeficiency 91 and hyperinflammation | PMID:33872655 [Fam.A:II.2(P1.2)] |
| 104739 | F | 215572 |
- | French | Arthralgia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:III.4] |
| 104741 | M | 215572 |
- | French | Arthralgia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:III.6] |
| 104748 | F | 215572 |
- | French | Arthralgia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:III.13] |
| 104771 | M | 215572 |
- | French | Arthralgia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.5] |
| 104773 | F | 215572 |
- | French | Arthralgia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.7] |
| 104844 | F | 215579 |
- | European | Myalgia | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:I.2(I.2)]; PMID:26279205 [Fam.NZ:I.2(I2)]; PMID:29403474 [Fam.NZ (5):I.2(I2)]; PMID:29806948 [Fam.NZ:I.2(I.2)]; PMID:30323807 [Fam.2:I.2(I.2)]; PMID:150198 [Fam.AC:I.2(107)] |
| 104886 | F | 215613 |
13 | Caucasian | Abdominal pain | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)]; PMID:34111452 [G.III.1 (26)] |
| 105013 | M | 215623 |
37 | Headaches | Hyper-IgE recurrent infection syndrome 1 | PMID:29803798 [Patient(II.2)] | |
| 105034 | F | 215628 |
17 | Finnish | Abdominal pain | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
| 105057 | F | 215635 |
- | German | Headaches | NFKB1 insufficiency | PMID:32278790 [S.I.1]; PMID:29403474 [Patient 1 (8)]; PMID:27365489 [Fam.1:II.1(Pat.1)]; PMID:150198 [Fam.AE:II.1(121)] |
| 105103 | F | 215641 |
12 | South Korean | Arthralgia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:26478010 [Fam.1:III.2(Patient)] |
| 105105 | F | 215643 |
- | Caucasian | Arthralgia | NFKB1 insufficiency | PMID:32278790 [Fam.AB:II.1(II.1)]; PMID:29403474 [Fam.(7):II.1(Index)]; PMID:27338827 [Fam.1:II.1(II-1)]; PMID:150198 [Fam.AD:II.1(117)] |
| 105143 | F | 215650 | 60 | German | Arthralgia | NFKB1 insufficiency | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
| 105172 | M | 215659 |
2 | Caucasian | Abdominal pain | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.T:II.1(48)]; PMID:27102614 [Fam.A:II.1(P1)]; PMID:34111452 [T.II.1 (48)] |
| 105197 | M | 215666 |
31 | Finnish | Arthralgia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.3(III.3)]; PMID:29403474 [Fam.1 (9):III.3(F1.III-3)]; PMID:28115215 [Fam.1:III.3(F1.III-3)]; PMID:150198 [Fam.AQ:III.3(177)]; PMID:36356849 [Fam.6:III.3(F6:III:3)]; PMID:36105815 [Fam.H67R:III.3(H67R/4)] |
| 105212 | F | 215666 |
- | Finnish | Abdominal pain | NFKB1 insufficiency | PMID:32278790 [Fam.F1:II.4(II.4)]; PMID:29403474 [Fam.1 (9):II.4(F1.II-4)]; PMID:28115215 [Fam.1:II.4(F1.II-4)]; PMID:150198 [Fam.AQ:II.4(174)]; PMID:36356849 [Fam.6:II.4(F6:II:4)]; PMID:36105815 [Fam.H67R:II.4(H67R/2)] |
| 105218 | F | 215666 |
32 | Finnish | Headaches | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.6(III.6)]; PMID:29403474 [Fam.1 (9):III.6(F1.III-6)]; PMID:28115215 [Fam.1:III.6(F1.III-6)]; PMID:150198 [Fam.AQ:III.6(180)]; PMID:36356849 [Fam.6:III.6(F6:III:6)]; PMID:36105815 [Fam.H67R:III.6(H67R/5)] |
| 105219 | F | 215666 |
6 | Finnish | Arthralgia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.7(III.7)]; PMID:29403474 [Fam.1 (9):III.7(F1.III-7)]; PMID:28115215 [Fam.1:III.7(F1.III-7)]; PMID:150198 [Fam.AQ:III.7(181)]; PMID:36356849 [Fam.6:III.7(F6:III:7)]; PMID:36105815 [Fam.H67R:III.7(H67R/6)] |
| 105220 | F | 215666 |
15 | Finnish | Arthralgia | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.8(III.8)]; PMID:29403474 [Fam.1 (9):III.8(F1.III-8)]; PMID:28115215 [Fam.1:III.8(F1.III-8)]; PMID:150198 [Fam.AQ:III.8(182)]; PMID:36356849 [Fam.6:III.8(F6:III:8)]; PMID:36105815 [Fam.H67R:III.8(H67R/7)] |
| 105222 | F | 215666 |
- | Finnish | Abdominal pain | NFKB1 insufficiency | PMID:32278790 [Fam.F1:IV.1(IV.1)]; PMID:29403474 [Fam.1 (9):IV.2(F1.IV-2)]; PMID:28115215 [Fam.1:IV.2(F1.IV-2)]; PMID:150198 [Fam.AQ:IV.2(184)]; PMID:36356849 [Fam.6:IV.2(F6:IV:2)]; PMID:36105815 [Fam.H67R:IV.2(H67R/9)] |
| 105225 | F | 215671 |
- | Finnish | Arthralgia | NFKB1 insufficiency | PMID:32278790 [Fam.F2:II.2(II.2)]; PMID:29403474 [Fam.2 (9):II.3(F2.II-3)]; PMID:28115215 [Fam.2:II.3(F2.II-3)]; PMID:150198 [Fam.AR:II.3(191)]; PMID:36356849 [Fam.5:II.2(F5:II:2)] |
| 105273 | F | 215682 | 18 | North American | Abdominal pain | CTLA4 haploinsufficiency with autoimmune infiltration | GRID:000111 [Patient(I.1)] |
| 105302 | M | 215686 |
- | European | Pharyngalgia | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.5(II.5)]; PMID:29477724 [Fam.C:II.5(II:5)]; PMID:150198 [Fam.AW:II.5(251)] |
| 105317 | M | 215692 |
- | European | Abdominal pain | NFKB1 insufficiency | PMID:32278790 [Fam.J:III.2(III.2)]; PMID:29477724 [Fam.J:III.2(III:2)]; PMID:150198 [Fam.BD:III.2(277)] |
| 105423 | M | 215765 |
- | Caucasian | Abdominal pain | NFKB1 insufficiency | PMID:150198 [Fam.BO:II.2(308)]; PMID:30761159 [Fam.1:II.2(patient)] |
| 105424 | M | 215766 |
- | Admixed | Headaches | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.1(P8)]; PMID:25457153 [Fam.1:II.2(P1)]; PMID:25075846 [Fam.1:II.2(older-sib)] |
| 105428 | M | 215766 |
2 | Admixed | Abdominal pain | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.2(P9)]; PMID:25457153 [Fam.1:II.3(P2)]; PMID:25075846 [Fam.1:II.3(younger-sib)] |
| 105549 | F | 215801 |
- | Caucasian | Arthralgia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.1:IV.1(P1)] |
| 105640 | F | 215830 | 1 | Abdominal pain | Immunodeficiency, common variable, 8 | PMID:34368306 [Patient 2] | |
| 105679 | M | 215839 |
- | Caucasian | Back pain | NFKB1 insufficiency | PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)] |
| 105690 | F | 215840 |
- | Caucasian | Abdominal pain | NFKB1 insufficiency | PMID:32278790 [Fam.BL:II.1(II.1)]; PMID:150198 [Fam.CE:II.1(417)]; PMID:36105815 [Fam.H67Y:II.1(H67Y/2)] |
| 105746 | M | 215851 |
- | Finnish | Abdominal pain | Immunodeficiency, common variable, 14 | PMID:34451894 [Patient(II.2)]; PMID:37876937 [Fam.C:II.2(C.1)] |
| 105767 | M | 211008 |
57 | Caucasian | Arthralgia | NFKB1 insufficiency | PMID:32278790 [Fam.BS:I.1(I.1)]; PMID:150198 [Fam.DD:I.1(455)]; PMID:36105815 [Fam.M216V:I.1(M216V/2)] |
| 105778 | F | 215871 |
7 | Spanish | Abdominal pain | NFKB1 insufficiency | PMID:32278790 [CB.I.1]; PMID:150198 [Fam.DM:II.1(472)]; PMID:36105815 [Fam.G386R:II.1(G386R/1)] |
| 105902 | F | 215903 |
11 | Caucasian | Myalgia | Hyper-IgE recurrent infection syndrome 1 | PMID:36917542 [Fam.A:II.1(elder-sister)] |
| 105903 | F | 215903 |
- | Caucasian | Arthralgia | Hyper-IgE recurrent infection syndrome 1 | PMID:36917542 [Fam.A:II.2(young-sister)] |
| 105957 | M | 215914 | - | Caucasian | Headaches | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(43)]; PMID:34111452 [P.II.2 (43)] |
| 106044 | F | 215929 |
30 | Caucasian | Headaches | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))]; PMID:34111452 [AK.II.1 (85)] |
| 106248 | F | 215977 |
- | Caucasian | Arthralgia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.15(UU.III.10 (113))]; PMID:29305966 [Fam.1:III.4(III.5)]; PMID:34111452 [AU.III.10 (113)] |
| 106259 | F | 215977 |
- | Caucasian | Arthralgia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.1:III.12(III.4)]; PMID:34111452 [AU.III.2 (107)] |
| 106263 | M | 215978 |
14 | European/American | Abdominal pain | NFKB1 insufficiency | PMID:150198 [Fam.FY:II.3(786)]; PMID:38593810 [Fam.5:II.3(F5.II-3)] |
| 106274 | M | 215977 |
- | Caucasian | Arthralgia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.2(UU.IV.2 (115))]; PMID:29305966 [Fam.1:IV.11(IV.7)]; PMID:34111452 [AU.IV.2 (115)] |
| 106277 | F | 215977 |
- | Caucasian | Arthralgia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.4(UU.IV.3 (116))]; PMID:29305966 [Fam.1:IV.14(IV.4)]; PMID:34111452 [AU.IV.3 (116)] |
| 106304 | M | 215981 |
- | Chinese (China) | Abdominal pain | NFKB1 insufficiency | PMID:150198 [Fam.FO:II.5(717)]; PMID:36571238 [Fam.1:II.5(II:5[P1])] |
| 106313 | F | 215982 | 37 | Caucasian | Chest pain | 2q33.1-33.3 deletion syndrome | PMID:29729943 [Chr2_1P1]; PMID:30326257 [previous1] |
| 106315 | F | 215771 |
2 | Caucasian | Abdominal pain | NFKB1 insufficiency | PMID:150198 [Fam.BV:III.1(346)]; PMID:36105815 [Fam.R157P:III.1(S8's daugther)] |
| 106322 | F | 215688 |
- | European | Arthralgia | PMID:150198 [Fam.AY:II.1(263)]; PMID:36105815 [Fam.I281M:II.1(sister)] | |
| 106323 | M | 215985 |
16 | Abdominal pain | NFKB1 insufficiency | PMID:150198 [Fam.EZ:II.1(612)]; PMID:36105815 [Fam.R284P:II.1(R284P/1)] | |
| 106358 | M | 216000 |
16 | Japanese | Arthralgia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31993940 [Patient(II.1)] |
| 106363 | F | 216001 |
3 | Argentinian | Abdominal pain | Immunodeficiency 117 | PMID:36736301 [Fam.A:II.1(P1)] |
| 106409 | M | 216010 |
- | Chinese (China) | Arthralgia | NFKB1 insufficiency | PMID:150198 [Fam.FT:II.2(741)]; PMID:37775675 [Fam.1:II.2(patient)] |
| 106422 | F | 216014 | 46 | Arthralgia | NFKB1 insufficiency | PMID:150198 [Fam.DX:541]; PMID:34447408 [1(I.1)] | |
| 106463 | F | 216023 |
- | Japanese | Arthralgia | NFKB1 insufficiency | PMID:150198 [Fam.FX:II.3(779)]; PMID:38514645 [Fam.1:II.3(proband)] |
| 106479 | M | 216032 | - | Egyptian | Abdominal pain | Immunodeficiency, common variable, 8 | PMID:32506362 [P14(II.1)] |
| 106481 | F | 216034 | - | Egyptian | Abdominal pain | Immunodeficiency, common variable, 8 | PMID:32506362 [Fam.216032:II.3(P16)] |
| 106547 | M | 216075 |
- | Dutch | Lower limb pain | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.C:II.1(P4)]; PMID:25888558 [Fam.1:III.1(P1)] |
| 106555 | M | 216078 |
- | Caucasian | Arthralgia | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)] |
| 106558 | M | 216078 |
- | Caucasian | Headaches | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.2(P2)]; PMID:25075845 [Fam.1:II.1(Old-bro)] |
| 106562 | M | 216079 |
- | Caucasian | Lower limb pain | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.B:IV.1(P3)] |
| 106577 | F | 216081 |
- | Caucasian | Arthralgia | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.D:II.2(P6)] |
| 106581 | F | 216082 |
- | Caucasian | Arthralgia | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.E:II.1(P7)] |
| 106642 | F | 216097 |
4 | European | Arthralgia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31396201 [Fam.:II.1(P1)] |
| 106847 | M | 216169 |
- | Caucasian | Arthralgia | Adenosine deaminase 2 deficiency | PMID:29963054 [P1(II.1)] |
| 106850 | M | 216169 |
43 | Caucasian | Myalgia | Adenosine deaminase 2 deficiency | PMID:29963054 [Fam.P1:II.2(P2)] |
| 106851 | F | 216170 | - | South Asian | Abdominal pain | Adenosine deaminase 2 deficiency | PMID:31008556 [Fam.2:P2] |
| 106862 | M | 216176 | - | Japanese | Arthralgia | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.1:II.3(P1)] |
| 106867 | M | 216177 | - | Japanese | Myalgia | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.2:II.1(P2)] |
| 106868 | M | 216177 | - | Japanese | Arthralgia | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.2:II.2(P3)] |
| 106875 | F | 216179 | - | Japanese | Arthralgia | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.4:II.3(P6)] |
| 106884 | F | 216181 | 12 | Japanese | Limb pain | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.6:II.2(P8)] |
| 106888 | M | 216182 |
2 | Caucasian | Arthralgia | Adenosine deaminase 2 deficiency | PMID:28830446 [P1(II.1)] |
| 106889 | M | 216182 |
3 | Caucasian | Arthralgia | Adenosine deaminase 2 deficiency | PMID:28830446 [Fam.P1:II.2(P2)] |
| 106912 | F | 216186 | 40 | Arthralgia | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
| 107142 | F | 216359 | - | Turkish | Arthralgia | Adenosine deaminase 2 deficiency | PMID:26233953 [Fam.F1:P1] |
| 107143 | M | 216360 | - | Turkish | Abdominal pain | Adenosine deaminase 2 deficiency | PMID:26233953 [Fam.F3:P4] |
| 107144 | F | 216361 | - | Turkish | Arthralgia | Adenosine deaminase 2 deficiency | PMID:26233953 [Fam.F5:P6] |
| 107145 | F | 216362 |
13 | Caucasian | Headaches | Adenosine deaminase 2 deficiency | PMID:26131734 [P1(II.1)] |
| 107224 | F | 216380 | 2 | Singaporean | Arthralgia | Adenosine deaminase 2 deficiency | PMID:27069017 [Patient] |
| 107226 | M | 216382 | 13 | North American | Back pain | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt6]; PMID:33651637 [Patient 2]; PMID:28349047 [Case] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).