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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:Stomatitis
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Accession:HP:0010280 term browser browse the term
Definition:Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.
Synonyms:exact_synonym: Inflammation of the mouth
 narrow_synonym: Gingivostomatitis
 xref: MESH:D013280;   SNOMEDCT_US:20607006;   SNOMEDCT_US:61170000;   UMLS:C0038362;   UMLS:C0149704



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Stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCOR BCL6 corepressor IAGP ORPHA:520 HPO NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G CD40LG CD40 ligand IAGP OMIM:308230 HPO NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390
JBrowse link
G FIP1L1 factor interacting with PAPOLA and CPSF1 IAGP ORPHA:520 HPO NCBI chr 4:53,377,641...53,460,862
Ensembl chr 4:53,377,641...53,460,862
JBrowse link
G HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 IAGP OMIM:212750 HPO 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 OMIM:212750 HPO NCBI chr 6:32,659,467...32,666,657
Ensembl chr 6:32,659,467...32,668,383
JBrowse link
G IL1RN interleukin 1 receptor antagonist IAGP OMIM:612852 HPO NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016
JBrowse link
G IRF2BP2 interferon regulatory factor 2 binding protein 2 IAGP ORPHA:520 HPO NCBI chr 1:234,604,269...234,610,178
Ensembl chr 1:234,604,269...234,610,178
JBrowse link
G IRF9 interferon regulatory factor 9 IAGP OMIM:618648 HPO NCBI chr14:24,161,265...24,166,565
Ensembl chr14:24,161,234...24,168,043
JBrowse link
G ITK IL2 inducible T cell kinase IAGP OMIM:613011 HPO NCBI chr 5:157,180,840...157,255,185
Ensembl chr 5:157,142,933...157,255,185
JBrowse link
G KYNU kynureninase IAGP ORPHA:79155 HPO NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,657...143,055,833
JBrowse link
G LMBRD1 LMBR1 domain containing 1 IAGP OMIM:277380 ORPHA:79284 HPO NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236
JBrowse link
G MMACHC metabolism of cobalamin associated C IAGP ORPHA:79282 HPO NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382
JBrowse link
G NABP1 nucleic acid binding protein 1 IAGP ORPHA:520 HPO NCBI chr 2:191,678,136...191,686,943
Ensembl chr 2:191,678,068...191,741,097
JBrowse link
G NPM1 nucleophosmin 1 IAGP ORPHA:520 HPO NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ORPHA:520 HPO NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693
JBrowse link
G ORAI1 ORAI calcium release-activated calcium modulator 1 IAGP OMIM:612782 HPO NCBI chr12:121,626,550...121,642,040
Ensembl chr12:121,626,509...121,643,218
JBrowse link
G PML PML nuclear body scaffold IAGP ORPHA:520 HPO NCBI chr15:73,994,716...74,047,827
Ensembl chr15:73,994,673...74,047,827
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ORPHA:520 HPO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G RARA retinoic acid receptor alpha IAGP ORPHA:520 HPO NCBI chr17:40,309,180...40,357,643
Ensembl chr17:40,309,180...40,357,643
JBrowse link
G RHOH ras homolog family member H IAGP OMIM:618307 HPO NCBI chr 4:40,191,080...40,246,967
Ensembl chr 4:40,191,011...40,246,967
JBrowse link
G RNF125 ring finger protein 125 IAGP OMIM:616260 HPO NCBI chr18:32,018,825...32,088,144
Ensembl chr18:32,018,825...32,073,219
JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP ORPHA:520 HPO NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,540
JBrowse link
G STAT5B signal transducer and activator of transcription 5B IAGP ORPHA:520 HPO NCBI chr17:42,199,177...42,288,370
Ensembl chr17:42,199,176...42,288,633
JBrowse link
G TBL1XR1 TBL1X/Y related 1 IAGP ORPHA:520 HPO NCBI chr 3:177,019,344...177,201,800
Ensembl chr 3:177,019,340...177,228,000
JBrowse link
G ZAP70 zeta chain of T cell receptor associated protein kinase 70 IAGP ORPHA:911 HPO NCBI chr 2:97,713,576...97,756,364
Ensembl chr 2:97,713,576...97,739,862
JBrowse link
G ZBTB16 zinc finger and BTB domain containing 16 IAGP ORPHA:520 HPO NCBI chr11:114,059,711...114,256,770
Ensembl chr11:114,059,041...114,256,765
JBrowse link
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 chr16:67,645,144...67,657,569
Ensembl chr16:67,644,988...67,657,569
JBrowse link
G CASP10 caspase 10 IAGP ORPHA:3261 HPO NCBI chr 2:201,183,141...201,229,406
Ensembl chr 2:201,182,872...201,229,428
JBrowse link
G CCR1 C-C motif chemokine receptor 1 IAGP ORPHA:117 HPO NCBI chr 3:46,201,711...46,208,313
Ensembl chr 3:46,201,711...46,208,313
JBrowse link
G CLPB caseinolytic mitochondrial matrix peptidase chaperone subunit B IAGP ORPHA:486 HPO 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 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 chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 IAGP ORPHA:117 HPO 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 ORPHA:117 ORPHA:3261 HPO NCBI chr10:88,964,050...89,017,059
Ensembl chr10:88,953,813...89,029,605
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:29207 HPO 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 OMIM:212750 HPO 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 OMIM:212750 HPO 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 OMIM:233600 HPO 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 ORPHA:117 HPO 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 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...9,933,621
Ensembl chr 3:9,917,074...9,933,630
JBrowse link
G IL23R interleukin 23 receptor IAGP ORPHA:117 HPO NCBI chr 1:67,138,637...67,265,903
Ensembl chr 1:67,138,907...67,259,979
JBrowse link
G IL6 interleukin 6 IAGP OMIM:266600 HPO 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 ORPHA:117 HPO NCBI chr12:10,407,384...10,409,757
Ensembl chr12:10,407,384...10,409,757
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin IAGP ORPHA:117 HPO 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 ORPHA:343 HPO 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 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...53,824,403
JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP OMIM:191900 ORPHA:575 HPO 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
OMIM:266600
HPO
RGD
PMID:19748964 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 OMIM:612782 HPO NCBI chr12:121,626,550...121,642,040
Ensembl chr12:121,626,509...121,643,218
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 chr15:38,488,103...38,564,814
Ensembl chr15:38,488,103...38,565,575
JBrowse link
G SRP54 signal recognition particle 54 IAGP ORPHA:486 HPO NCBI chr14:34,982,992...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...191,246,175
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 chr11:68,039,025...68,053,762
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 chr13:99,200,854...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:15154116 PMID:17990063 PMID:25525159 PMID:25741868 PMID:28492532 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...10,116,799
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 14828
    Phenotypic abnormality 14825
      Abnormality of the immune system 2407
        Abnormality of immune system physiology 2016
          Abnormal inflammatory response 1195
            Increased inflammatory response 1168
              Stomatitis 65
                Recurrent aphthous stomatitis 42
Path 2
Term Annotations click to browse term
  Human phenotype 14828
    Phenotypic abnormality 14825
      Abnormality of head or neck 3287
        Abnormality of the head 3255
          Abnormality of the face 2948
            Abnormality of the mouth 2189
              Abnormal oral morphology 2107
                Abnormal oral cavity morphology 2083
                  Abnormal oral mucosa morphology 330
                    Stomatitis 65
                      Recurrent aphthous stomatitis 42
paths to the root