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

TERM

Recurrent aphthous stomatitis

CHILD terms

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 210220tree icon - 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 210314tree icon - 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 210908tree icon 6 Argentinian Aphthous oral ulcer Adenosine deaminase 2 deficiency PMID:28493328 [Fam.P9:II.2(P10)]
101800 M 215769tree icon - 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 214916tree icon - Belgian Aphthous oral ulcer Severe congenital neutropenia 11 PMID:32325141 [Patient(II.1)]
102626 M 214969tree icon 15 Filipino Recurrent aphthous stomatitis Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.1:II.1(P1)]
102782 F 214987tree icon - Iranian Aphthous oral ulcer Hyper-IgE recurrent infection syndrome 3 PMID:29907691 [Fam.C:II.2(P5)]
103733 F 215233tree icon 4 Georgian Jewish Aphthous oral ulcer Adenosine deaminase 2 deficiency PMID:24552285 [Fam.B:III.1(B-III-1)]
103820 M 215254tree icon - 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 215523tree icon - Turkish Aphthous oral ulcer Immunodeficiency 114 PMID:36517554 [Pt1(IV.1)]
104402 M 215523tree icon - Turkish Aphthous oral ulcer Immunodeficiency 114 PMID:36517554 [Fam.Pt1:IV.4(Pt2)]
105057 F 215635tree icon - 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 215647tree icon - 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 215655tree icon - 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 215666tree icon 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 215666tree icon - 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 215666tree icon - 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 215666tree icon - 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 215666tree icon 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 215666tree icon 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 215686tree icon - 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 215762tree icon - 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 211370tree icon - 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 211370tree icon - 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 215852tree icon - 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 215903tree icon - 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 215952tree icon 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 215976tree icon 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 215993tree icon - Aphthous oral ulcer NFKB1 insufficiency PMID:150198 [Fam.EU:I.1(603)]; PMID:36105815 [Fam.H67R-2:I.1(H67R/10)]
106346 F 215993tree icon - Aphthous oral ulcer NFKB1 insufficiency PMID:150198 [Fam.EU:II.1(605)]; PMID:36105815 [Fam.H67R-2:II.1(H67R/11)]
106463 F 216023tree icon 29 Japanese Stomatitis NFKB1 insufficiency PMID:150198 [Fam.FX:II.3(779)]; PMID:38514645 [Fam.1:II.3(proband)]
106555 M 216078tree icon - 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 216081tree icon - Caucasian Aphthous oral ulcer Adenosine deaminase 2 deficiency PMID:26867732 [Fam.D:II.2(P6)]
106581 F 216082tree icon - 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 216189tree icon - 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).