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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: MSH: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 ORPHA:117 HPO 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 OMIM:618131 HPO NCBI chr16:67,645,004...67,657,569
Ensembl chr16:67,644,988...67,657,569
JBrowse link
G CASP10 caspase 10 IAGP ORPHA:3261 HPO NCBI chr 2:201,182,885...201,229,406
Ensembl chr 2:201,182,898...201,229,406
JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP ORPHA:117 HPO NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP ORPHA:275 HPO NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432
JBrowse link
G ELANE elastase, neutrophil expressed IAGP ORPHA:486 HPO NCBI chr19:850,997...856,250
Ensembl chr19:851,014...856,247
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP ORPHA:117 HPO NCBI chr 5:96,760,273...96,935,983
Ensembl chr 5:96,760,810...96,808,100
JBrowse link
G FAS Fas cell surface death receptor IAGP ORPHA:117 ORPHA:3261 HPO NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,990,531...89,017,059
JBrowse link
G FASLG Fas ligand IAGP ORPHA:3261 HPO 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 ORPHA:486 HPO 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 ORPHA:117 HPO NCBI chr 6:31,353,875...31,357,179
Ensembl chr 6:31,353,872...31,357,188
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP OMIM:212750 HPO NCBI chr 6:32,637,406...32,654,846
Ensembl chr 6:32,628,179...32,647,062
JBrowse link
G HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 IAGP OMIM:212750 HPO NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G IL10 interleukin 10 IAGP ORPHA:117 HPO 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 ORPHA:117 HPO 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 ORPHA:117 HPO 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 OMIM:616445 HPO NCBI chr 3:9,917,098...9,933,627
Ensembl chr 3:9,917,074...9,933,630
JBrowse link
G IL23R interleukin 23 receptor IAGP ORPHA:117 HPO NCBI chr 1:67,138,639...67,259,979
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G IL6 interleukin 6 IAGP OMIM:266600 HPO NCBI chr 7:22,725,889...22,732,002
Ensembl chr 7:22,725,884...22,732,002
JBrowse link
G KLRC4 killer cell lectin like receptor C4 IAGP ORPHA:117 HPO NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,382...10,409,757
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin IAGP ORPHA:117 HPO NCBI chr16:3,242,027...3,256,776
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...11,806,103
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MVK mevalonate kinase IAGP ORPHA:343 HPO NCBI chr12:109,573,461...109,598,125
Ensembl chr12:109,573,255...109,598,125
JBrowse link
G NCF4 neutrophil cytosolic factor 4 IAGP OMIM:613960 HPO 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 OMIM:611762 HPO NCBI chr19:53,793,584...53,824,403
Ensembl chr19:53,793,741...53,824,394
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP OMIM:191900 ORPHA:575 HPO NCBI chr 1:247,416,163...247,448,823
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
OMIM:266600
HPO
RGD
PMID:19748964 RGD:8158059 NCBI chr16:50,693,587...50,733,077
Ensembl chr16:50,693,588...50,734,041
JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP OMIM:612782 HPO NCBI chr12:121,626,550...121,642,040
Ensembl chr12:121,626,550...121,642,677
JBrowse link
G PRKCD protein kinase C delta IAGP ORPHA:3261 HPO 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 OMIM:615966 HPO 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 ORPHA:3261 HPO NCBI chr15:38,488,097...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G SRP54 signal recognition particle 54 IAGP ORPHA:486 HPO NCBI chr14:34,982,981...35,029,567
Ensembl chr14:34,981,957...35,029,686
JBrowse link
G STAT4 signal transducer and activator of transcription 4 IAGP ORPHA:117 HPO NCBI chr 2:191,029,576...191,172,684
Ensembl chr 2:191,029,576...191,151,596
JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP ORPHA:486 HPO NCBI chr11:68,039,000...68,053,846
Ensembl chr11:68,039,025...68,050,895
JBrowse link
G TLR4 toll like receptor 4 IAGP ORPHA:117 HPO NCBI chr 9:117,704,403...117,724,735
Ensembl chr 9:117,704,175...117,724,735
JBrowse link
G UBAC2 UBA domain containing 2 IAGP ORPHA:117 HPO NCBI chr13:99,200,425...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 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 OMIM:150550 HPO NCBI chr 4:10,074,339...10,116,860
Ensembl chr 4:10,074,339...10,116,949
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 13454
    Phenotypic abnormality 13451
      Abnormality of the immune system 2042
        Abnormality of immune system physiology 1666
          Abnormal inflammatory response 1134
            Increased inflammatory response 1107
              Stomatitis 63
                Recurrent aphthous stomatitis 39
Path 2
Term Annotations click to browse term
  Human phenotype 13454
    Phenotypic abnormality 13451
      Abnormality of head or neck 3184
        Abnormality of the head 3156
          Abnormality of the face 2858
            Abnormality of the mouth 2123
              Abnormal oral morphology 2044
                Abnormal oral cavity morphology 2020
                  Abnormal oral mucosa morphology 327
                    Stomatitis 63
                      Recurrent aphthous stomatitis 39
paths to the root