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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 tonsillitis
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Accession:HP:0011110 term browser browse the term
Definition:Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis.
Synonyms:exact_synonym: Recurrent inflammation of tonsils
 xref: SNOMEDCT_US:90176007;   UMLS:C0040425



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Recurrent tonsillitis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLM BLM RecQ like helicase IAGP HPO ORPHA:125 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G C3 complement C3 IAGP HPO MIM:613779 NCBI chr19:6,677,704...6,720,650
Ensembl chr19:6,677,704...6,730,562
JBrowse link
G CYBC1 cytochrome b-245 chaperone 1 IAGP HPO MIM:618935 NCBI chr17:82,442,586...82,450,752
Ensembl chr17:82,440,912...82,450,829
JBrowse link
G ELANE elastase, neutrophil expressed IAGP HPO ORPHA:2686 NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
JBrowse link
G IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) IAGP HPO ORPHA:183675 NCBI chr14:105,643,203...105,644,789
Ensembl chr14:105,639,559...105,644,790
JBrowse link
G IGKC immunoglobulin kappa constant IAGP HPO ORPHA:183675 NCBI chr 2:88,857,361...88,857,683
Ensembl chr 2:88,857,161...88,857,683
JBrowse link
G MPEG1 macrophage expressed 1 IAGP HPO MIM:619223 NCBI chr11:59,208,510...59,212,927
Ensembl chr11:59,208,510...59,212,927
JBrowse link
G MYO5A myosin VA IAGP HPO MIM:214450 NCBI chr15:52,307,283...52,529,050
Ensembl chr15:52,307,281...52,529,132
JBrowse link
G PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta IAGP HPO ORPHA:397596 NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO ORPHA:397596 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
JBrowse link
G PTEN phosphatase and tensin homolog IAGP HPO ORPHA:397596 NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
JBrowse link
G RIPK1 receptor interacting serine/threonine kinase 1 IAGP HPO MIM:618852 NCBI chr 6:3,063,967...3,115,187
Ensembl chr 6:3,063,824...3,115,187
JBrowse link
G SCNN1A sodium channel epithelial 1 subunit alpha IAGP HPO ORPHA:171876 NCBI chr12:6,346,847...6,377,359
Ensembl chr12:6,346,843...6,377,730
JBrowse link
G SCNN1B sodium channel epithelial 1 subunit beta IAGP HPO ORPHA:171876 NCBI chr16:23,278,231...23,381,294
Ensembl chr16:23,278,231...23,381,294
JBrowse link
G SCNN1G sodium channel epithelial 1 subunit gamma IAGP HPO ORPHA:171876 NCBI chr16:23,182,745...23,216,883
Ensembl chr16:23,182,745...23,216,883
JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 IAGP HPO MIM:620670 MIM:620674 NCBI chr 3:128,051,641...128,071,683
Ensembl chr 3:128,051,641...128,071,705
JBrowse link
G TBK1 TANK binding kinase 1 IAGP HPO MIM:620880 NCBI chr12:64,452,120...64,502,114
Ensembl chr12:64,452,090...64,502,114
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of the immune system 12995
        Abnormality of the lymphatic system 1006
          Abnormality of the tonsils 40
            Recurrent tonsillitis 17
Path 2
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of the immune system 12995
        Abnormality of immune system physiology 10194
          Unusual infection 1353
            Recurrent infections 1052
              Recurrent tonsillitis 17
paths to the root