Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral mucosa morphology (HP:0011830)help
Grandparent Node:
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Increased inflammatory response (HP:0012649)help
Parent Node:
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Stomatitis (HP:0010280)help
..Starting node
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Recurrent aphthous stomatitis (HP:0011107)help
Term ID: 11107
Name: Recurrent aphthous stomatitis
Synonym: Aphthous stomatitis; Buccal aphthous ulcers; Recurrent aphthous ulcers; Recurrent canker sores; Recurrent oral aphthae
Definition: Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.
Comments:
Reference: HP:0011107
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011107HP:0011107Recurrent aphthous stomatitis0C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0011107HP:0011107Recurrent aphthous stomatitis0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0011107HP:0011107Recurrent aphthous stomatitis0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare87
HP:0011107HP:0011107Recurrent aphthous stomatitis0CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0011107HP:0011107Recurrent aphthous stomatitis0CEBPE CL E G H10531836OMIM:260570Pelger-Huet-Like anomaly and episodic fever with abdominal pain3
HP:0011107HP:0011107Recurrent aphthous stomatitis0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent38
HP:0011107HP:0011107Recurrent aphthous stomatitis0DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiencyHP:0040283 - Occasional94
HP:0011107HP:0011107Recurrent aphthous stomatitis0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent79
HP:0011107HP:0011107Recurrent aphthous stomatitis0ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0011107HP:0011107Recurrent aphthous stomatitis0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare59
HP:0011107HP:0011107Recurrent aphthous stomatitis0FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040281 - Very frequent59
HP:0011107HP:0011107Recurrent aphthous stomatitis0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare37
HP:0011107HP:0011107Recurrent aphthous stomatitis0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent56
HP:0011107HP:0011107Recurrent aphthous stomatitis0HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040281 - Very frequent4
HP:0011107HP:0011107Recurrent aphthous stomatitis0HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040281 - Very frequent4
HP:0011107HP:0011107Recurrent aphthous stomatitis0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0011107HP:0011107Recurrent aphthous stomatitis0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0011107HP:0011107Recurrent aphthous stomatitis0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia
HP:0011107HP:0011107Recurrent aphthous stomatitis0IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040281 - Very frequent60
HP:0011107HP:0011107Recurrent aphthous stomatitis0IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040281 - Very frequent2
HP:0011107HP:0011107Recurrent aphthous stomatitis0IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0011107HP:0011107Recurrent aphthous stomatitis0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0011107HP:0011107Recurrent aphthous stomatitis0IL17RC CL E G H8481818358OMIM:616445Candidiasis, familial, 9.4
HP:0011107HP:0011107Recurrent aphthous stomatitis0IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0011107HP:0011107Recurrent aphthous stomatitis0IL6 CL E G H35696018OMIM:266600Inflammatory bowel disease 1, Crohn disease.2
HP:0011107HP:0011107Recurrent aphthous stomatitis0KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0011107HP:0011107Recurrent aphthous stomatitis0MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040281 - Very frequent281
HP:0011107HP:0011107Recurrent aphthous stomatitis0MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic feverHP:0040282 - Frequent150
HP:0011107HP:0011107Recurrent aphthous stomatitis0NCF4 CL E G H46897662OMIM:613960Chronic granulomatous disease 3, autosomal recessive.37
HP:0011107HP:0011107Recurrent aphthous stomatitis0NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0011107HP:0011107Recurrent aphthous stomatitis0NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome.217
HP:0011107HP:0011107Recurrent aphthous stomatitis0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040283 - Occasional217
HP:0011107HP:0011107Recurrent aphthous stomatitis0NOD2 CL E G H641275331OMIM:266600Inflammatory bowel disease 1, Crohn disease.187
HP:0011107HP:0011107Recurrent aphthous stomatitis0ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0011107HP:0011107Recurrent aphthous stomatitis0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare10
HP:0011107HP:0011107Recurrent aphthous stomatitis0PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalities.42
HP:0011107HP:0011107Recurrent aphthous stomatitis0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare
HP:0011107HP:0011107Recurrent aphthous stomatitis0RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0011107HP:0011107Recurrent aphthous stomatitis0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent
HP:0011107HP:0011107Recurrent aphthous stomatitis0STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040281 - Very frequent2
HP:0011107HP:0011107Recurrent aphthous stomatitis0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent82
HP:0011107HP:0011107Recurrent aphthous stomatitis0TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040281 - Very frequent3
HP:0011107HP:0011107Recurrent aphthous stomatitis0TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0011107HP:0011107Recurrent aphthous stomatitis0UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0011107HP:0011107Recurrent aphthous stomatitis0WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome


Genes (42) :C4A CARMIL2 CASP10 CCR1 CEBPE CLPB DCLRE1C ELANE ERAP1 FAS FASLG GFI1 HLA-B HLA-DQA1 HLA-DQB1 HYOU1 IFNGR1 IL10 IL12A IL12A-AS1 IL17RC IL23R IL6 KLRC4 MEFV MVK NCF4 NLRP12 NLRP3 NOD2 ORAI1 PRKCD PRKDC RASGRP1 RIN2 SRP54 STAT4 TCIRG1 TLR4 TLR8 UBAC2 WDR1

Diseases (21) :ORPHA:117 OMIM:618131 ORPHA:3261 OMIM:260570 ORPHA:486 ORPHA:275 ORPHA:29207 OMIM:212750 OMIM:233600 OMIM:616445 OMIM:266600 ORPHA:343 OMIM:613960 OMIM:611762 OMIM:191900 ORPHA:575 OMIM:612782 OMIM:615966 OMIM:613075 OMIM:301078 OMIM:150550
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.