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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Recurrent aphthous stomatitis
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Accession:HP:0011107 term browser browse the term
Definition:Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border.
Comment: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.
Synonyms:exact_synonym: Recurrent canker sores;   Recurrent oral aphthae
 related_synonym: Aphthous stomatitis;   Buccal aphthous ulcers;   Recurrent aphthous ulcers
 xref: MESH:D013281;   SNOMEDCT_US:110426005;   SNOMEDCT_US:398870000;   SNOMEDCT_US:426965005;   SNOMEDCT_US:427617000;   UMLS:C0038363;   UMLS:C2937365


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Recurrent aphthous stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCB1 ATP binding cassette subfamily B member 1 IAGP DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I RGD PMID:22705826 RGD:8657073 NCBI chr 7:87,503,017...87,713,295
Ensembl chr 7:87,503,017...87,713,323 		JBrowse link
G C4A complement C4A (Rodgers blood group) IAGP HPO ORPHA:117 NCBI chr 6:31,982,057...32,002,681
Ensembl chr 6:31,982,057...32,002,681 		JBrowse link
G CARMIL2 capping protein regulator and myosin 1 linker 2 IAGP HPO OMIM:618131 NCBI chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569 		JBrowse link
G CASP10 caspase 10 IAGP HPO ORPHA:3261 NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428 		JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP HPO ORPHA:117 NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313 		JBrowse link
G CEBPE CCAAT enhancer binding protein epsilon IAGP HPO OMIM:260570 NCBI chr14:23,117,306...23,119,255
Ensembl chr14:23,117,036...23,120,256 		JBrowse link
G CLPB ClpB family mitochondrial disaggregase IAGP HPO ORPHA:486 NCBI chr11:72,285,495...72,434,531
Ensembl chr11:72,285,495...72,434,680 		JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP HPO ORPHA:275 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:486 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP HPO ORPHA:117 NCBI chr 5:96,760,813...96,935,854
Ensembl chr 5:96,760,810...96,808,100 		JBrowse link
G FAS Fas cell surface death receptor IAGP HPO ORPHA:117 ORPHA:3261 NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605 		JBrowse link
G FASLG Fas ligand IAGP HPO ORPHA:3261 NCBI chr 1:172,659,103...172,666,876
Ensembl chr 1:172,659,103...172,666,876 		JBrowse link
G GFI1 growth factor independent 1 transcriptional repressor IAGP HPO ORPHA:486 NCBI chr 1:92,473,043...92,486,925
Ensembl chr 1:92,473,043...92,486,925 		JBrowse link
G HLA-B major histocompatibility complex, class I, B IAGP HPO ORPHA:117 ORPHA:29207 NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,367,067 		JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP HPO OMIM:212750 NCBI chr 6:32,637,406...32,655,272
Ensembl chr 6:32,628,179...32,647,062 		JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP HPO OMIM:212750 NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383 		JBrowse link
G HYOU1 hypoxia up-regulated 1 IAGP HPO OMIM:233600 NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227 		JBrowse link
G IFNGR1 interferon gamma receptor 1 IAGP HPO ORPHA:117 NCBI chr 6:137,197,484...137,219,385
Ensembl chr 6:137,197,483...137,219,449 		JBrowse link
G IL10 interleukin 10 IAGP HPO ORPHA:117 NCBI chr 1:206,767,602...206,772,494
Ensembl chr 1:206,767,602...206,774,541 		JBrowse link
G IL12A interleukin 12A IAGP HPO ORPHA:117 NCBI chr 3:159,988,835...159,996,019
Ensembl chr 3:159,988,835...159,996,019 		JBrowse link
G IL12A-AS1 IL12A antisense RNA 1 IAGP HPO ORPHA:117 NCBI chr 3:159,913,400...160,207,092
Ensembl chr 3:159,902,045...160,225,299 		JBrowse link
G IL17RC interleukin 17 receptor C IAGP HPO OMIM:616445 NCBI chr 3:9,917,098...9,933,621
Ensembl chr 3:9,917,074...9,933,630 		JBrowse link
G IL23R interleukin 23 receptor IAGP HPO ORPHA:117 NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979 		JBrowse link
G IL6 interleukin 6 IAGP HPO OMIM:266600 NCBI chr 7:22,727,200...22,731,998
Ensembl chr 7:22,725,884...22,732,002 		JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP HPO ORPHA:117 NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757 		JBrowse link
G MALT1 MALT1 paracaspase IAGP HPO OMIM:615468 NCBI chr18:58,671,465...58,754,477
Ensembl chr18:58,671,465...58,754,477 		JBrowse link
G MEFV MEFV innate immunity regulator, pyrin IAGP HPO ORPHA:117 NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity IAGP DNA:missense mutation:cds:677C>T (rs1801133) RGD PMID:23665953 RGD:10449402 NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455 		JBrowse link
G MVK mevalonate kinase IAGP HPO ORPHA:343 NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125 		JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP HPO OMIM:613960 NCBI chr22:36,861,006...36,878,015
Ensembl chr22:36,860,988...36,878,017 		JBrowse link
G NLRP12 NLR family pyrin domain containing 12 IAGP HPO OMIM:611762 NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,793,741...53,824,403 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP HPO OMIM:191900 ORPHA:575 NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108 		JBrowse link
G NOD2 nucleotide binding oligomerization domain containing 2 IAGP DNA:snp, insertion:exons:p.R702W, p.L1007insC HPO
RGD		 PMID:19748964 OMIM:266600, RGD:8158059 NCBI chr16:50,693,606...50,733,075
Ensembl chr16:50,693,588...50,733,077 		JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP HPO OMIM:612782 NCBI chr12:121,626,530...121,643,109
Ensembl chr12:121,626,509...121,643,218 		JBrowse link
G PRKCD protein kinase C delta IAGP HPO ORPHA:3261 NCBI chr 3:53,161,209...53,192,717
Ensembl chr 3:53,156,009...53,192,717 		JBrowse link
G PRKDC protein kinase, DNA-activated, catalytic subunit IAGP HPO OMIM:615966 NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178 		JBrowse link
G RASGRP1 RAS guanyl releasing protein 1 IAGP HPO ORPHA:3261 NCBI chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575 		JBrowse link
G RIN2 Ras and Rab interactor 2 IAGP HPO OMIM:613075 NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457 		JBrowse link
G RNF125 ring finger protein 125 IAGP HPO OMIM:616260 NCBI chr18:32,018,825...32,088,144
Ensembl chr18:32,018,825...32,073,219 		JBrowse link
G RORC RAR related orphan receptor C IAGP HPO OMIM:616622 NCBI chr 1:151,806,071...151,831,802
Ensembl chr 1:151,806,071...151,831,845 		JBrowse link
G SRP19 signal recognition particle 19 IAGP HPO ORPHA:486 NCBI chr 5:112,861,287...112,898,371
Ensembl chr 5:112,861,188...112,898,371 		JBrowse link
G SRP54 signal recognition particle 54 IAGP HPO ORPHA:486 NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP HPO ORPHA:117 NCBI chr 2:191,029,576...191,151,596
Ensembl chr 2:191,029,576...191,151,596 		JBrowse link
G STK4 serine/threonine kinase 4 IAGP HPO OMIM:614868 NCBI chr20:44,966,512...45,080,021
Ensembl chr20:44,966,494...45,080,021 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP HPO ORPHA:486 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TICAM1 TIR domain containing adaptor molecule 1 IAGP HPO OMIM:614850 NCBI chr19:4,815,932...4,831,712
Ensembl chr19:4,815,932...4,831,712 		JBrowse link
G TLR4 toll like receptor 4 IAGP HPO ORPHA:117 NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735 		JBrowse link
G TLR8 toll like receptor 8 IAGP HPO OMIM:301078 NCBI chr  X:12,906,620...12,923,169
Ensembl chr  X:12,906,620...12,923,169 		JBrowse link
G UBAC2 UBA domain containing 2 IAGP HPO ORPHA:117 NCBI chr13:99,200,854...99,386,504
Ensembl chr13:99,200,774...99,386,504 		JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP ClinVar Annotator: match by term: Buccal aphthous ulcers
ClinVar Annotator: match by term: Recurrent aphthous stomatitis		 ClinVar PMID:15141358 PMID:15154116 PMID:16648375 PMID:17990063 PMID:20461111 More... NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580 		JBrowse link
G WDR1 WD repeat domain 1 IAGP HPO OMIM:150550 NCBI chr 4:10,074,339...10,116,799
Ensembl chr 4:10,068,089...10,116,972 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21486
    Phenotypic abnormality 21476
      Abnormality of the immune system 2694
        Abnormality of immune system physiology 2239
          Abnormal inflammatory response 1331
            Increased inflammatory response 1304
              Stomatitis 75
                Recurrent aphthous stomatitis 51
Path 2
Term Annotations click to browse term
  Human phenotype 21486
    Phenotypic abnormality 21476
      Abnormality of head or neck 3558
        Abnormality of the head 3529
          Abnormality of the face 3139
            Abnormality of the mouth 2381
              Abnormal oral morphology 2295
                Abnormal oral cavity morphology 2271
                  Abnormal oral mucosa morphology 392
                    Stomatitis 75
                      Recurrent aphthous stomatitis 51
paths to the root