Asthma
Basic details
Preferred term: Asthma
Alt. terms: Reactive airway disease (RAD) | Bronchial asthma | hyperreactive airway disease (HRA)
HPO term: Asthma
HPO code: HP:0002099
GenIA ID: 94
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: C28397
MESH: D001249
EFO: -
OAE: -
SNOMEDCT: -
ICD10: J45
Description
Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.
Hierarchical classification
TERM
Asthma
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101017 | F | 210232 | 34 | German | obstructive lung disease | PMID:34975878 [Fam.F003:P003] | |
101049 | F | 210205![]() |
- | Caucasian | Asthma | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.15(A.III.5)]; PMID:29729943 [Fam.A:III.15(A.III.5 (10))] |
101063 | M | 210118 | - | German | Asthma | PMID:34975878 [Fam.F411:P411]; PMID:34390440 [CMC01] | |
101067 | M | 211264 | 7 | Asthma | PMID:34975878 [Fam.F036:P036] | ||
101085 | F | 210196 | 37 | Asthma | PMID:34975878 [Fam.F051:P051] | ||
101129 | F | 210906 | 26 | German | Asthma | PMID:34975878 [Fam.F078:P078] | |
101195 | F | 212379 | - | Egyptian | Asthma | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES19] |
101260 | M | 212144 | 7 | Iranian | obstructive lung disease | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14] |
101356 | F | 210135 | 2 | Arab | Asthma | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.4(P2)]; PMID:26707784 [P2] |
101375 | F | 212162 | 13 | Iranian | Asthma | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.1:II.1(P1)]; PMID:29528757 [Case 3]; PMID:26707784 [Fam.F:IV.1(P30)]; PMID:25011360 [Case 2]; PMID:26993986 [Fam.F7:II.1(1)]; PMID:28512785 [P8] |
101403 | M | 210189![]() |
7 | German | Asthma | Adenosine deaminase 2 deficiency | PMID:28493328 [P3]; PMID:26922074 [Index(II.2)] |
101426 | M | 212173 | 1 | Iranian | Asthma | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 2]; PMID:26707784 [Fam.E:IV.2(P28)]; PMID:26993986 [Fam.F17:II.1(1)]; PMID:28512785 [P7] |
101527 | M | 210728 | - | Asthma | PMID:34975878 [Fam.F175:P175] | ||
101591 | M | 212604![]() |
6 | Scottish | Asthma | ARPC1B deficiency | PMID:28368018 [Fam.2:II.2(P3)]; PMID:30771411 [Fam.P10:II.2(P11)]; PMID:34673575 [Fam.2:II.2(P3)] |
101635 | F | 211154 | 44 | German | Asthma | Severe combined immunodeficiency due to adenosine deaminase deficiency | PMID:34975878 [Fam.F221:P221] |
101651 | M | 210939 | 28 | Asthma | PMID:34975878 [Fam.F226:P226] | ||
101652 | M | 212629![]() |
- | Nepalese | Asthma | ARPC1B deficiency | PMID:30771411 [P4(II.1)] |
101690 | F | 212636![]() |
- | Jordanian | Asthma | ARPC1B deficiency | PMID:30771411 [P13(IV.5)] |
101740 | M | 210300![]() |
1 | North American | Asthma | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.13(P9)] |
101774 | M | 210908![]() |
- | Argentinian | Asthma | Adenosine deaminase 2 deficiency | PMID:28493328 [P9(II.1)] |
101795 | M | 211075 | - | Asthma | Immunodeficiency, common variable, 10 | PMID:30941118 [Fam.981:II.5(Pt#28)] | |
101801 | M | 211151 | 7 | Asthma | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20] | |
101802 | F | 211221![]() |
13 | German | Asthma | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)] |
101922 | F | 211937 | - | Asthma | PMID:34975878 [Fam.F342:P342] | ||
101946 | F | 211943 | 26 | Asthma | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F406:P406] | |
101975 | F | 214053![]() |
- | Turkish | Asthma | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.2(D.II.1)]; PMID:34390440 [HIES53]; PMID:31980991 [Case] |
102052 | M | 214264 | - | Asthma | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES37] | |
102090 | M | 214309 | - | Asthma | Immunodeficiency 58 | PMID:34390440 [HIES29] | |
102121 | M | 214345 | - | Egyptian | Asthma | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES16] |
102170 | M | 214849 | - | South Korean | Asthma | Atopic dermatitis 2 | Ichthyosis vulgaris | PMID:25997159 [AD48]; PMID:25997159 [AD48] |
102222 | M | 214917 | 62 | German | obstructive lung disease | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
102250 | M | 214924![]() |
1 | Afghanistani | Asthma | ARPC1B deficiency | PMID:33679784 [II-6(II.6)]; PMID:35767111 [P7] |
102423 | M | 214949![]() |
- | French/Greek | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:I.2(P1)] |
102427 | M | 214950![]() |
4 | French | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.B:II.3(P5)] |
102436 | F | 214956![]() |
- | Bulgarian | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:III.1(P7)] |
102439 | M | 214956![]() |
- | Bulgarian | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:II.2(P6)] |
102444 | M | 214957![]() |
- | Slovak | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.D:II.3(P8)] |
102449 | F | 214958![]() |
- | Mexican/Salvadoran | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.E:II.1(P9)] |
102460 | M | 214960![]() |
0 | European | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.G:II.1(P11)] |
102463 | M | 214961![]() |
0 | European | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.H:II.1(P12)] |
102466 | M | 214962![]() |
9 | Polish | Asthma | Immunodeficiency 94 | PMID:33517393 [Patient(III.7)] |
102474 | M | 214963![]() |
- | Admixed | Asthma | Hyper-IgE recurrent infection syndrome 4B | PMID:33771552 [Patient(II.1)] |
102719 | F | 214981![]() |
0 | Canadian | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:II.2(Patient)]; PMID:36546480 [Fam.1:II.2(II-2)] |
102729 | M | 214981![]() |
0,- | Canadian | Asthma,obstructive lung disease | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.1]; PMID:36546480 [Fam.1:III.1(III-1)] |
102730 | M | 214981![]() |
0 | Canadian | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)] |
102735 | F | 214983![]() |
- | North American | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:32750333 [Patient(II.2)] |
102803 | F | 214991![]() |
10 | North American | Asthma | Immunodeficiency 8 | PMID:25073507 [P1(II.2)] |
102804 | M | 214991![]() |
7 | North American | Asthma | Immunodeficiency 8 | PMID:25073507 [Fam.P1:II.1(P2)] |
102984 | F | 215074![]() |
9 | European/American | obstructive lung disease | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
103044 | M | 215094 | - | Swedish | Asthma | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.9:SW] |
103877 | F | 215266![]() |
1 | Finnish | Asthma | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2] |
103880 | F | 215269![]() |
- | Finnish | Asthma | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
104053 | M | 215329 | - | Asthma | Hyper-IgE recurrent infection syndrome 1 | PMID:19891924 [Patient] | |
104158 | M | 215393![]() |
- | Australian | Asthma | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.B:II.2(P2)] |
104268 | M | 215444![]() |
- | Ashkenazi Jewish | obstructive lung disease | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28153428 [Patient(II.2)] |
104352 | F | 215491 | - | Caucasian | Asthma | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H2] |
104392 | F | 215520![]() |
- | French | Asthma | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [Patient] |
104403 | M | 215524![]() |
3 | Asian | Asthma | Early-onset atopic inflammation | PMID:36216080 [Index(III.1)] |
104410 | M | 215525![]() |
- | Japanese | Asthma | Early-onset atopic inflammation | PMID:36538978 [Patient(II.2)] |
104438 | F | 215527![]() |
2 | Middle Eastern | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.A:II.1(P1)] |
104444 | F | 215528![]() |
2 | Spanish | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.B:II.2(P2)] |
104453 | F | 215530![]() |
2 | European | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.D:II.1(P5)] |
104458 | M | 215531![]() |
0 | East Asian | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.E:II.1(P6)] |
104461 | M | 215532![]() |
4 | European | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.F:II.1(P8)]; PMID:37316763 [Patient(II.1)] |
104462 | F | 215532![]() |
5 | European | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.F:I.1(P7)]; PMID:37316763 [Fam.Patient:I.2(mother)] |
104464 | M | 215532![]() |
3 | European | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.F:II.2(P9)]; PMID:37316763 [Fam.Patient:II.2(brother)] |
104465 | M | 215533![]() |
- | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.G:II.1(P10)] | |
104477 | M | 215535![]() |
0 | SouthEast Asian | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.I:II.2(P12)] |
104481 | M | 215536![]() |
1 | Caucasian | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.2(P14)] |
104488 | F | 215536![]() |
1 | Caucasian | Asthma | Early-onset atopic inflammation | PMID:36884218 [Fam.J:III.2(P13)] |
104492 | F | 215536![]() |
1,1 | Caucasian | Asthma,obstructive lung disease | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.4(P16)] |
104521 | F | 215538 | - | Gypsy | Asthma | ARPC1B deficiency | PMID:31379835 [P3] |
104733 | F | 215572![]() |
- | French | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:II.16] |
104748 | F | 215572![]() |
- | French | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:III.13] |
104797 | M | 215577![]() |
- | Atopy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)] | |
104962 | F | 215622![]() |
- | Dutch | Asthma | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.3(III.3)]; PMID:26279205 [Fam.NL1:III.4(25)]; PMID:29403474 [Fam.NL1 (5):III.4(25)]; PMID:11583829 [Fam.1:III.3(III:3)]; PMID:16639407 [Fam.1:III.4(25)]; PMID:150198 [Fam.AA:III.4(030)] |
105028 | F | 215627 | - | French | Asthma | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30299506 [Patient]; PMID:32392079 [P2]; PMID:35677041 [Pt10] |
105143 | F | 215650 | 60 | German | Asthma | NFKB1 insufficiency | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
105225 | F | 215671![]() |
31 | Finnish | Asthma | 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)] |
105231 | M | 215671![]() |
10 | Finnish | Asthma | NFKB1 insufficiency | PMID:32278790 [Fam.F2:III.2(III.2)]; PMID:29403474 [Fam.2 (9):III.2(F2.III-2)]; PMID:28115215 [Fam.2:III.2(F2.III-2)]; PMID:150198 [Fam.AR:III.2(193)]; PMID:36356849 [Fam.5:III.2(F5:III:2)] |
105237 | M | 215672![]() |
66 | Finnish | Asthma | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.4(II.4)]; PMID:28115215 [Fam.3:II.4(F3.II-4)]; PMID:150198 [Fam.AS:II.7(202)]; PMID:36356849 [Fam.3:II.7(F3:II:7)]; PMID:36892687 [II:4(II.4)]; PMID:38593810 [Fam.1:II.7(F1.II-4)] |
105239 | F | 215672![]() |
42 | Finnish | Asthma | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.8(II.6)]; PMID:28115215 [Fam.3:II.6(F3.II-6)]; PMID:150198 [Fam.AS:II.14(209)]; PMID:36356849 [Fam.3:II.14(F3:II:14)]; PMID:36892687 [II:7(II.7)]; PMID:38593810 [Fam.1:II.13(F1.II-7)] |
105308 | F | 215687![]() |
- | European | Asthma | NFKB1 insufficiency | PMID:32278790 [Fam.D:II.2(II.2)]; PMID:29477724 [Fam.D:II.2(II:2)]; PMID:150198 [Fam.AX:II.2(260)] |
105317 | M | 215692![]() |
- | European | Asthma | 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)] |
105433 | F | 215768![]() |
- | Danish | Atopy | NFKB1 insufficiency | PMID:32278790 [AQ.I.1]; PMID:150198 [Fam.BX:II.2(359)]; PMID:32047491 [P2(I.1)]; PMID:36105815 [N323Y] |
105465 | M | 215772![]() |
- | Russian | Asthma | NFKB1 insufficiency | PMID:150198 [Fam.BS:II.1(319)]; PMID:31803180 [Fam.B:II.1(S3)] |
105466 | M | 215772![]() |
- | Russian | Asthma | NFKB1 insufficiency | PMID:150198 [Fam.BS:II.2(320)]; PMID:31803180 [Fam.B:II.2(S4)] |
105659 | F | 215836 | - | Asthma | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.2(Sibling 2)] | |
105694 | F | 215842![]() |
20 | German | Asthma | NFKB1 insufficiency | PMID:32278790 [Fam.Y:II.1(Y.II.1)]; PMID:150198 [Fam.CG:II.1(423)] |
105767 | M | 211008![]() |
- | Caucasian | Asthma | 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)] |
105911 | F | 215906![]() |
- | French | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:III.1(P2)] |
105918 | F | 215908![]() |
30 | Moroccan | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:I.1(P3)] |
105921 | F | 215908![]() |
- | Moroccan | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.2(P5)] |
105924 | F | 215908![]() |
- | Moroccan | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.B:II.5(P6)] |
105943 | M | 215912![]() |
- | Colombian/Swiss | Asthma | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.C:II.1(P8)] |
106023 | M | 215923 | - | Japanese | Asthma | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.AA:IV.1(AA.IV.1 (69))]; PMID:30048690 [Fam.4:IV.1(P4.2)]; PMID:35087518 [Fam.16:IV.1(16.2)] |
106264 | M | 215977 | - | Caucasian | Asthma | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.11(UU.IV.10 (119))]; PMID:29305966 [Fam.IV.2:IV.5(IV.11)] |
106415 | F | 216011![]() |
- | Indian | Atopy | Hyper-IgE recurrent infection syndrome 4A | PMID:38578568 [Fam.1:I.2(mother)] |
106596 | F | 216087![]() |
- | French | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:I.2(P1)] |
106599 | M | 216087![]() |
- | French | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:II.1(P2)] |
106600 | M | 216087![]() |
- | French | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:II.2(P3)] |
106622 | M | 216091![]() |
- | Ashkenazi Jewish | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.4:II.1(P11)] |
106625 | F | 216092![]() |
- | Admixed | Asthma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.5:II.2(P13)] |
106679 | F | 216106![]() |
- | Dutch | Allergic asthma | NFKB1 insufficiency | PMID:150198 [Fam.ET:II.2(600)]; PMID:36105815 [Fam.G64V:II.2(G64V/2)] |
106683 | M | 216107 | - | German | Asthma | NFKB1 insufficiency | PMID:150198 [Fam.EW:607]; PMID:36105815 [N103D] |
106912 | F | 216186 | - | Asthma | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).