Recurrent aphthous stomatitis
Basic details
Preferred term: Recurrent aphthous stomatitis
Alt. terms: Aphthous stomatitis | Buccal aphthous ulcers | Recurrent aphthous ulcers | Recurrent canker sores | Recurrent oral aphthae
HPO term: Recurrent aphthous stomatitis
HPO code: HP:0011107
GenIA ID: 8057
Last updated on: 2021-08-02 21:50:33
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. Note: Recurrent aphthous stomatitis can be classified into three forms, with minor ulcers (over 80% of RAS cases) being less than 1 cm in diameter and self-limiting; major ulcers being over 1 cm in diameter with potential scar formation; and herpetiform ulcers manifesting as recurrent episodes with multiple small ulcers throughout the oral mucosa.
Hierarchical classification
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101129 | F | 210906 | 32 | German | Stomatitis | PMID:34975878 [Fam.F078:P078] | |
101139 | F | 212090 | 9 | Aphthous oral ulcer | PMID:34975878 [Fam.F399:P399] | ||
101469 | F | 210220![]() |
- | German | Aphthous oral ulcer | 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)] |
101479 | F | 210314![]() |
- | German | Aphthous oral ulcer | NFKB1 insufficiency | PMID:34975878 [Fam.F160:P160]; PMID:32278790 [Fam.BF:II.2(II.2)]; PMID:29403474 [Fam.(13):II.1(Patient 2)]; PMID:27923702 [Fam.191:II.1(Patient 2)]; PMID:150198 [Fam.AO:II.2(164)]; GRID:001142 [Fam.#:II.2(FR036)] |
101775 | M | 210908![]() |
6 | Argentinian | Aphthous oral ulcer | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
101800 | M | 215769![]() |
- | Caucasian | Aphthous oral ulcer | NFKB1 insufficiency | PMID:34975878 [Fam.F259:P259]; PMID:32278790 [Fam.AT:III.2(III.2)]; PMID:150198 [Fam.BT:IV.1(319)]; PMID:31803180 [Fam.C:III.1(III.1)] |
101831 | M | 210126 | - | Israeli | Aphthous oral ulcer | Immunodeficiency 31C | PMID:34390440 [CMC18] |
101845 | M | 210125 | - | German | Aphthous oral ulcer | PMID:34390440 [NEG031] | |
101924 | M | 210094 | - | German | Aphthous oral ulcer | Immunodeficiency 31C | PMID:34390440 [CMC05] |
102058 | M | 214276 | - | Iranian | Aphthous oral ulcer | Immunodeficiency 103, susceptibility to fungal infection | PMID:34390440 [HIES04] |
102120 | M | 214344 | - | Egyptian | Aphthous oral ulcer | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES21] |
102216 | F | 214916![]() |
- | Belgian | Aphthous oral ulcer | Severe congenital neutropenia 11 | PMID:32325141 [Patient(II.1)] |
102626 | M | 214969![]() |
15 | Filipino | Recurrent aphthous stomatitis | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.1:II.1(P1)] |
102782 | F | 214987![]() |
- | Iranian | Aphthous oral ulcer | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.C:II.2(P5)] |
103733 | F | 215233![]() |
4 | Georgian Jewish | Aphthous oral ulcer | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.B:III.1(B-III-1)] |
103820 | M | 215254![]() |
- | French | Aphthous oral ulcer | Adenosine deaminase 2 deficiency | PMID:25278816 [Fam.F785:II.5(P1)] |
104354 | F | 215493 | - | Caucasian | Aphthous oral ulcer | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [Co1] |
104401 | M | 215523![]() |
- | Turkish | Aphthous oral ulcer | Immunodeficiency 114 | PMID:36517554 [Pt1(IV.1)] |
104402 | M | 215523![]() |
- | Turkish | Aphthous oral ulcer | Immunodeficiency 114 | PMID:36517554 [Fam.Pt1:IV.4(Pt2)] |
105057 | F | 215635![]() |
- | German | Recurrent aphthous stomatitis | 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)] |
105129 | M | 215647![]() |
- | Aphthous oral ulcer | NFKB1 insufficiency | PMID:27379089 [Fam.1:c1(P1)]; PMID:32278790 [Fam.BA:II.1(II.1)]; PMID:29403474 [Fam.(10):c1(Patient 1)]; PMID:150198 [Fam.AG:IV.1(143)] | |
105152 | F | 215655![]() |
- | Spanish | Aphthous oral ulcer | NFKB1 insufficiency | PMID:32278790 [V.I.1]; PMID:29403474 [Patient 26 (11)]; PMID:150198 [Fam.AK:I.2(149)]; PMID:27461466 [Fam.827_01:26] |
105197 | M | 215666![]() |
31 | Finnish | Aphthous oral ulcer | 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 | Aphthous oral ulcer | 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![]() |
- | Finnish | Aphthous oral ulcer | 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![]() |
- | Finnish | Aphthous oral ulcer | 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![]() |
13 | Finnish | Aphthous oral ulcer | 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![]() |
6 | Finnish | Aphthous oral ulcer | 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)] |
105251 | M | 215678 | 3 | Aphthous oral ulcer | Combined immunodeficiency 36 | PMID:33876203 [P1(II.1)] | |
105302 | M | 215686![]() |
- | European | Aphthous oral ulcer | 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)] |
105363 | F | 215722 | - | Afro-American | Stomatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)] |
105412 | F | 215762![]() |
- | Caucasian | Aphthous oral ulcer | NFKB1 insufficiency | PMID:32278790 [Fam.BB:I.1(I.1)]; PMID:30063981 [Fam.1:II.2(II.2)]; PMID:150198 [Fam.BM:II.3(300)] |
105549 | F | 215801 | 11 | Caucasian | Aphthous oral ulcer | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.A:IV.1(P1)] |
105714 | M | 211370![]() |
- | Turkish | Aphthous oral ulcer | NFKB1 insufficiency | PMID:32278790 [Fam.AJ:III.1(III.1)]; PMID:150198 [Fam.BZ:III.1(380)]; GRID:001142 [Fam.*:III.1(FR095)] |
105715 | F | 211370![]() |
- | Turkish | Aphthous oral ulcer | NFKB1 insufficiency | PMID:32278790 [Fam.AJ:III.3(III.3)]; PMID:150198 [Fam.BZ:III.3(382)]; GRID:001142 [Fam.*:III.3(FR097.2)] |
105731 | F | 215843 | - | Russian | Aphthous oral ulcer | NFKB1 insufficiency | PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424] |
105740 | U | 215845 | - | Aphthous oral ulcer | NFKB1 insufficiency | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |
105745 | M | 215850 | - | Aphthous oral ulcer | NFKB1 insufficiency | PMID:32278790 [AI.I.1]; PMID:150198 [Fam.CO:434] | |
105747 | F | 215852![]() |
- | Dutch | Aphthous oral ulcer | NFKB1 insufficiency | PMID:32278790 [Fam.AM:II.1(II.1)]; PMID:150198 [Fam.CA:II.1(399)] |
105779 | F | 215872 | - | Turkish | Aphthous oral ulcer | NFKB1 insufficiency | PMID:32278790 [CC.I.1]; PMID:150198 [Fam.DN:474] |
105902 | F | 215903![]() |
- | Caucasian | Aphthous oral ulcer | Hyper-IgE recurrent infection syndrome 1 | PMID:36917542 [Fam.A:II.1(elder-sister)] |
105957 | M | 215914 | - | Caucasian | Aphthous oral ulcer | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(P.II.2 (43))] |
106109 | M | 215952![]() |
4 | Iranian | Aphthous oral ulcer | NFKB1 insufficiency | PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))] |
106223 | M | 215976![]() |
34 | Finnish | Aphthous oral ulcer | NFKB1 insufficiency | PMID:150198 [Fam.FN:II.1(710)]; PMID:36356849 [Fam.4:II.1(F4:II:1)]; PMID:38593810 [Fam.3:II.1(F3.II-1)] |
106343 | M | 215993![]() |
- | Aphthous oral ulcer | NFKB1 insufficiency | PMID:150198 [Fam.EU:I.1(603)]; PMID:36105815 [Fam.H67R-2:I.1(H67R/10)] | |
106346 | F | 215993![]() |
- | Aphthous oral ulcer | NFKB1 insufficiency | PMID:150198 [Fam.EU:II.1(605)]; PMID:36105815 [Fam.H67R-2:II.1(H67R/11)] | |
106463 | F | 216023![]() |
29 | Japanese | Stomatitis | NFKB1 insufficiency | PMID:150198 [Fam.FX:II.3(779)]; PMID:38514645 [Fam.1:II.3(proband)] |
106555 | M | 216078![]() |
- | Caucasian | Aphthous oral ulcer | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)] |
106577 | F | 216081![]() |
- | Caucasian | Aphthous oral ulcer | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.D:II.2(P6)] |
106581 | F | 216082![]() |
- | Caucasian | Aphthous oral ulcer | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.E:II.1(P7)] |
106684 | F | 216108 | 62 | Asian | Aphthous oral ulcer | NFKB1 insufficiency | PMID:36105815 [G136S] |
106942 | M | 216189![]() |
- | Caucasian | Aphthous oral ulcer | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.2(773)]; PMID:38423196 [Fam.1:II.2(P2)] |
106957 | F | 216198 | - | Stomatitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P13] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).