Human Phenotype Ontology 
Grandparent Node:
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Abnormal inflammatory response (HP:0012647)help
Parent Node:
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Abnormal oral mucosa morphology (HP:0011830)help
Parent Node:
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Increased inflammatory response (HP:0012649)help
..Starting node
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Stomatitis (HP:0010280)help
Term ID: 10280
Name: Stomatitis
Synonym: Gingivostomatitis; Inflammation of the mouth
Definition: Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.
Comments:
Reference: HP:0010280
Genes and Diseases:
 
       Child Nodes:
........expandRecurrent aphthous stomatitis (HP:0011107) help

 Sister Nodes: 
..expandCholangitis (HP:0030151) help
..expandChondritis (HP:0100662) help
..expandEndocarditis (HP:0100584) help
..expandEpididymitis (HP:0000031) help
..expandFasciitis (HP:0100537) help
..expandGastrointestinal inflammation (HP:0004386) help
..expandHepatitis (HP:0012115) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandInflammatory abnormality of the skin (HP:0011123) help
..expandLymphadenitis (HP:0002840) help
..expandMeningitis (HP:0001287) help
..expandMyelitis (HP:0012486) help
..expandMyositis (HP:0100614) help
..expandNephritis (HP:0000123) help
..expandOptic neuritis (HP:0100653) help
..expandOsteomyelitis (HP:0002754) help
..expandOtitis media (HP:0000388) help
..expandPancreatitis (HP:0001733) help
..expandPanniculitis (HP:0012490) help
..expandPeriodontitis (HP:0000704) help
..expandPneumonia (HP:0002090) help
..expandProstatitis (HP:0000024) help
..expandSerositis (HP:0045073) help
..expandSinusitis (HP:0000246) help
..expandThyroiditis (HP:0100646) help
..expandUrinary bladder inflammation (HP:0100577) help
..expandVaginitis (HP:0030683) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010280HP:0010280Stomatitis0BCOR CL E G H5488020893ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional101
HP:0010280HP:0010280Stomatitis0C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0010280HP:0010280Stomatitis0CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0010280HP:0010280Stomatitis0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0010280HP:0010280Stomatitis0CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0010280HP:0010280Stomatitis0CD40LG CL E G H95911935OMIM:308230Immunodeficiency, X-linked, with hyper-IgM.33
HP:0010280HP:0010280Stomatitis0CEBPE CL E G H10531836OMIM:260570Pelger-Huet-Like anomaly and episodic fever with abdominal pain3
HP:0010280HP:0010280Stomatitis0CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropenia38
HP:0010280HP:0010280Stomatitis0DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiency94
HP:0010280HP:0010280Stomatitis0ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropenia79
HP:0010280HP:0010280Stomatitis0ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0010280HP:0010280Stomatitis0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0010280HP:0010280Stomatitis0FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0010280HP:0010280Stomatitis0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0010280HP:0010280Stomatitis0FIP1L1 CL E G H8160819124ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional4
HP:0010280HP:0010280Stomatitis0GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropenia56
HP:0010280HP:0010280Stomatitis0HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0010280HP:0010280Stomatitis0HLA-B CL E G H31064932ORPHA:29207Reactive arthritis4
HP:0010280HP:0010280Stomatitis0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0010280HP:0010280Stomatitis0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0010280HP:0010280Stomatitis0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia.
HP:0010280HP:0010280Stomatitis0IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0010280HP:0010280Stomatitis0IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0010280HP:0010280Stomatitis0IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0010280HP:0010280Stomatitis0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0010280HP:0010280Stomatitis0IL17RC CL E G H8481818358OMIM:616445Candidiasis, familial, 94
HP:0010280HP:0010280Stomatitis0IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency.40
HP:0010280HP:0010280Stomatitis0IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0010280HP:0010280Stomatitis0IL6 CL E G H35696018OMIM:266600Inflammatory bowel disease 1, Crohn disease2
HP:0010280HP:0010280Stomatitis0IRF2BP2 CL E G H35994821729ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional4
HP:0010280HP:0010280Stomatitis0IRF9 CL E G H103796131OMIM:618648IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65
HP:0010280HP:0010280Stomatitis0ITK CL E G H37026171OMIM:613011LYMPHOPROLIFERATIVE SYNDROME 1; LPFS151
HP:0010280HP:0010280Stomatitis0KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0010280HP:0010280Stomatitis0KYNU CL E G H89426469ORPHA:79155HydroxykynureninuriaHP:0040282 - Frequent5
HP:0010280HP:0010280Stomatitis0LMBRD1 CL E G H5578823038ORPHA:79284Methylmalonic acidemia with homocystinuria type cblFHP:0040283 - Occasional46
HP:0010280HP:0010280Stomatitis0LMBRD1 CL E G H5578823038OMIM:277380Methylmalonic aciduria and homocystinuria, Cblf type.46
HP:0010280HP:0010280Stomatitis0MEFV CL E G H42106998ORPHA:117Behçet disease281
HP:0010280HP:0010280Stomatitis0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040282 - Frequent101
HP:0010280HP:0010280Stomatitis0MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic fever150
HP:0010280HP:0010280Stomatitis0NABP1 CL E G H6485926232ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional
HP:0010280HP:0010280Stomatitis0NCF4 CL E G H46897662OMIM:613960Chronic granulomatous disease 3, autosomal recessive37
HP:0010280HP:0010280Stomatitis0NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0010280HP:0010280Stomatitis0NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0010280HP:0010280Stomatitis0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndrome217
HP:0010280HP:0010280Stomatitis0NOD2 CL E G H641275331OMIM:266600Inflammatory bowel disease 1, Crohn disease187
HP:0010280HP:0010280Stomatitis0NPM1 CL E G H48697910ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional12
HP:0010280HP:0010280Stomatitis0NUMA1 CL E G H49268059ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional
HP:0010280HP:0010280Stomatitis0ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0010280HP:0010280Stomatitis0PML CL E G H53719113ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional3
HP:0010280HP:0010280Stomatitis0PRKAR1A CL E G H55739388ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional134
HP:0010280HP:0010280Stomatitis0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0010280HP:0010280Stomatitis0PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalities42
HP:0010280HP:0010280Stomatitis0RARA CL E G H59149864ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional2
HP:0010280HP:0010280Stomatitis0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndrome
HP:0010280HP:0010280Stomatitis0RHOH CL E G H399686OMIM:618307Epidermodysplasia verruciformis, susceptibility to, 4.
HP:0010280HP:0010280Stomatitis0RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0010280HP:0010280Stomatitis0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0010280HP:0010280Stomatitis0SLC37A4 CL E G H25424061OMIM:232240GLYCOGEN STORAGE DISEASE Ic110
HP:0010280HP:0010280Stomatitis0SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropenia
HP:0010280HP:0010280Stomatitis0STAT3 CL E G H677411364ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional110
HP:0010280HP:0010280Stomatitis0STAT4 CL E G H677511365ORPHA:117Behçet disease2
HP:0010280HP:0010280Stomatitis0STAT5B CL E G H677711367ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional12
HP:0010280HP:0010280Stomatitis0TBL1XR1 CL E G H7971829529ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional22
HP:0010280HP:0010280Stomatitis0TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropenia82
HP:0010280HP:0010280Stomatitis0TLR4 CL E G H709911850ORPHA:117Behçet disease3
HP:0010280HP:0010280Stomatitis0TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0010280HP:0010280Stomatitis0UBAC2 CL E G H33786720486ORPHA:117Behçet disease
HP:0010280HP:0010280Stomatitis0WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0010280HP:0010280Stomatitis0ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiencyHP:0040283 - Occasional46
HP:0010280HP:0010280Stomatitis0ZBTB16 CL E G H770412930ORPHA:520Acute promyelocytic leukemiaHP:0040283 - Occasional1
HP:0010280HP:0011107Recurrent aphthous stomatitis1C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0010280HP:0011107Recurrent aphthous stomatitis1CARMIL2 CL E G H14620627089OMIM:618131IMMUNODEFICIENCY 58; IMD583
HP:0010280HP:0011107Recurrent aphthous stomatitis1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare87
HP:0010280HP:0011107Recurrent aphthous stomatitis1CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0010280HP:0011107Recurrent aphthous stomatitis1CEBPE CL E G H10531836OMIM:260570Pelger-Huet-Like anomaly and episodic fever with abdominal pain3
HP:0010280HP:0011107Recurrent aphthous stomatitis1CLPB CL E G H8157030664ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent38
HP:0010280HP:0011107Recurrent aphthous stomatitis1DCLRE1C CL E G H6442117642ORPHA:275Severe combined immunodeficiency due to DCLRE1C deficiencyHP:0040283 - Occasional94
HP:0010280HP:0011107Recurrent aphthous stomatitis1ELANE CL E G H19913309ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent79
HP:0010280HP:0011107Recurrent aphthous stomatitis1ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0010280HP:0011107Recurrent aphthous stomatitis1FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare59
HP:0010280HP:0011107Recurrent aphthous stomatitis1FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040281 - Very frequent59
HP:0010280HP:0011107Recurrent aphthous stomatitis1FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare37
HP:0010280HP:0011107Recurrent aphthous stomatitis1GFI1 CL E G H26724237ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent56
HP:0010280HP:0011107Recurrent aphthous stomatitis1HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040281 - Very frequent4
HP:0010280HP:0011107Recurrent aphthous stomatitis1HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040281 - Very frequent4
HP:0010280HP:0011107Recurrent aphthous stomatitis1HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0010280HP:0011107Recurrent aphthous stomatitis1HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0010280HP:0011107Recurrent aphthous stomatitis1HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia
HP:0010280HP:0011107Recurrent aphthous stomatitis1IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040281 - Very frequent60
HP:0010280HP:0011107Recurrent aphthous stomatitis1IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040281 - Very frequent2
HP:0010280HP:0011107Recurrent aphthous stomatitis1IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0010280HP:0011107Recurrent aphthous stomatitis1IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0010280HP:0011107Recurrent aphthous stomatitis1IL17RC CL E G H8481818358OMIM:616445Candidiasis, familial, 9.4
HP:0010280HP:0011107Recurrent aphthous stomatitis1IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040281 - Very frequent1
HP:0010280HP:0011107Recurrent aphthous stomatitis1IL6 CL E G H35696018OMIM:266600Inflammatory bowel disease 1, Crohn disease.2
HP:0010280HP:0011107Recurrent aphthous stomatitis1KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0010280HP:0011107Recurrent aphthous stomatitis1MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040281 - Very frequent281
HP:0010280HP:0011107Recurrent aphthous stomatitis1MVK CL E G H45987530ORPHA:343Hyperimmunoglobulinemia D with periodic feverHP:0040282 - Frequent150
HP:0010280HP:0011107Recurrent aphthous stomatitis1NCF4 CL E G H46897662OMIM:613960Chronic granulomatous disease 3, autosomal recessive.37
HP:0010280HP:0011107Recurrent aphthous stomatitis1NLRP12 CL E G H9166222938OMIM:611762Familial cold autoinflammatory syndrome 299
HP:0010280HP:0011107Recurrent aphthous stomatitis1NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome.217
HP:0010280HP:0011107Recurrent aphthous stomatitis1NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040283 - Occasional217
HP:0010280HP:0011107Recurrent aphthous stomatitis1NOD2 CL E G H641275331OMIM:266600Inflammatory bowel disease 1, Crohn disease.187
HP:0010280HP:0011107Recurrent aphthous stomatitis1ORAI1 CL E G H8487625896OMIM:612782Immunodeficiency 9.19
HP:0010280HP:0011107Recurrent aphthous stomatitis1PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare10
HP:0010280HP:0011107Recurrent aphthous stomatitis1PRKDC CL E G H55919413OMIM:615966Immunodeficiency 26 with or without neurologic abnormalities.42
HP:0010280HP:0011107Recurrent aphthous stomatitis1RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare
HP:0010280HP:0011107Recurrent aphthous stomatitis1RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0010280HP:0011107Recurrent aphthous stomatitis1SRP54 CL E G H672911301ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent
HP:0010280HP:0011107Recurrent aphthous stomatitis1STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040281 - Very frequent2
HP:0010280HP:0011107Recurrent aphthous stomatitis1TCIRG1 CL E G H1031211647ORPHA:486Autosomal dominant severe congenital neutropeniaHP:0040282 - Frequent82
HP:0010280HP:0011107Recurrent aphthous stomatitis1TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040281 - Very frequent3
HP:0010280HP:0011107Recurrent aphthous stomatitis1TLR8 CL E G H5131115632OMIM:301078IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0010280HP:0011107Recurrent aphthous stomatitis1UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040281 - Very frequent
HP:0010280HP:0011107Recurrent aphthous stomatitis1WDR1 CL E G H994812754OMIM:150550Periodic fever, immunodeficiency, and thrombocytopenia syndrome


Genes (66) :BCOR C4A CARMIL2 CASP10 CCR1 CD40LG CEBPE CLPB DCLRE1C ELANE ERAP1 FAS FASLG FIP1L1 GFI1 HLA-B HLA-DQA1 HLA-DQB1 HYOU1 IFNGR1 IL10 IL12A IL12A-AS1 IL17RC IL1RN IL23R IL6 IRF2BP2 IRF9 ITK KLRC4 KYNU LMBRD1 MEFV MMACHC MVK NABP1 NCF4 NLRP12 NLRP3 NOD2 NPM1 NUMA1 ORAI1 PML PRKAR1A PRKCD PRKDC RARA RASGRP1 RHOH RIN2 RNF125 SLC37A4 SRP54 STAT3 STAT4 STAT5B TBL1XR1 TCIRG1 TLR4 TLR8 UBAC2 WDR1 ZAP70 ZBTB16

Diseases (34) :ORPHA:520 ORPHA:117 OMIM:618131 ORPHA:3261 OMIM:308230 OMIM:260570 ORPHA:486 ORPHA:275 ORPHA:29207 OMIM:212750 OMIM:233600 OMIM:616445 OMIM:612852 OMIM:266600 OMIM:618648 OMIM:613011 ORPHA:79155 ORPHA:79284 OMIM:277380 ORPHA:79282 ORPHA:343 OMIM:613960 OMIM:611762 OMIM:191900 ORPHA:575 OMIM:612782 OMIM:615966 OMIM:618307 OMIM:613075 OMIM:616260 OMIM:232240 OMIM:301078 OMIM:150550 ORPHA:911
 

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