Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Grandparent Node:
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Increased inflammatory response (HP:0012649)help
Parent Node:
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Abnormal uvea morphology (HP:0000553)help
Parent Node:
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Inflammatory abnormality of the eye (HP:0100533)help
..Starting node
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Uveitis (HP:0000554)help
Term ID: 554
Name: Uveitis
Synonym:
Definition: Inflammation of one or all portions of the uveal tract.
Comments:
Reference: HP:0000554
Genes and Diseases:
 
       Child Nodes:
........expandNongranulomatous uveitis (HP:0007813) help
........expandPanuveitis (HP:0012121) help
........expandAnterior uveitis (HP:0012122) help
................... HP:0001094 Iridocyclitis
........expandPosterior uveitis (HP:0012123) help
........expandIntermediate uveitis (HP:0012124) help

 Sister Nodes: 
..expandBlepharitis (HP:0000498) help
..expandConjunctivitis (HP:0000509) help
..expandEpiscleritis (HP:0100534) help
..expandKeratitis (HP:0000491) help
..expandScleritis (HP:0100532) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000554HP:0000554Uveitis0BTNL2 CL E G H56244797ORPHA111181142606000
HP:0000554HP:0000554Uveitis0CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM112891482602537
HP:0000554HP:0000554Uveitis0DNASE1L3 CL E G H177636412ORPHA110312959602244
HP:0000554HP:0000554Uveitis0HLA-DRB1 CL E G H3123797ORPHA126194948142857
HP:0000554HP:0000554Uveitis0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512955961300248
HP:0000554HP:0000554Uveitis0NLRC4 CL E G H584841451ORPHA1921416412606831
HP:0000554HP:0000554Uveitis0NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM11813414374606636
HP:0000554HP:0000554Uveitis0NLRP3 CL E G H1145481451ORPHA114248816400606416
HP:0000554HP:0000554Uveitis0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA114248816400606416
HP:0000554HP:0000554Uveitis0NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM11214425331605956
HP:0000554HP:0000554Uveitis1BTNL2 CL E G H56244797ORPHA111181142606000
HP:0000554HP:0000554Uveitis1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM112891482602537
HP:0000554HP:0000554Uveitis1DNASE1L3 CL E G H177636412ORPHA110312959602244
HP:0000554HP:0000554Uveitis1HLA-DRB1 CL E G H3123797ORPHA126194948142857
HP:0000554HP:0000554Uveitis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512955961300248
HP:0000554HP:0000554Uveitis1NLRC4 CL E G H584841451ORPHA1921416412606831
HP:0000554HP:0000554Uveitis1NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM11813414374606636
HP:0000554HP:0000554Uveitis1NLRP3 CL E G H1145481451ORPHA114248816400606416
HP:0000554HP:0000554Uveitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA114248816400606416
HP:0000554HP:0000554Uveitis1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM11214425331605956
HP:0000554HP:0000554Uveitis2BTNL2 CL E G H56244797ORPHA111181142606000
HP:0000554HP:0000554Uveitis2CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM112891482602537
HP:0000554HP:0000554Uveitis2DNASE1L3 CL E G H177636412ORPHA110312959602244
HP:0000554HP:0000554Uveitis2HLA-DRB1 CL E G H3123797ORPHA126194948142857
HP:0000554HP:0000554Uveitis2IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512955961300248
HP:0000554HP:0000554Uveitis2NLRC4 CL E G H584841451ORPHA1921416412606831
HP:0000554HP:0000554Uveitis2NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM11813414374606636
HP:0000554HP:0000554Uveitis2NLRP3 CL E G H1145481451ORPHA114248816400606416
HP:0000554HP:0000554Uveitis2NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA114248816400606416
HP:0000554HP:0000554Uveitis2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM11214425331605956
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000554HP:0000554Uveitis0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM094113907609875
HP:0000554HP:0000554Uveitis0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA021124492602646
HP:0000554HP:0000554Uveitis0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512955961300248
HP:0000554HP:0000554Uveitis0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02620715455300294
HP:0000554HP:0000554Uveitis0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA01157380142408
HP:0000554HP:0000554Uveitis0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA014862411634602272
HP:0000554HP:0000554Uveitis0TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM073411834606781
HP:0000554HP:0000554Uveitis0TNFRSF1A CL E G H713232960ORPHA010927911916191190
HP:0000554HP:0000554Uveitis1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM094113907609875
HP:0000554HP:0000554Uveitis1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA021124492602646
HP:0000554HP:0000554Uveitis1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512955961300248
HP:0000554HP:0000554Uveitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02620715455300294
HP:0000554HP:0000554Uveitis1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA01157380142408
HP:0000554HP:0000554Uveitis1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA014862411634602272
HP:0000554HP:0000554Uveitis1TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM073411834606781
HP:0000554HP:0000554Uveitis1TNFRSF1A CL E G H713232960ORPHA010927911916191190
HP:0000554HP:0000554Uveitis2ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM094113907609875
HP:0000554HP:0000554Uveitis2GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA021124492602646
HP:0000554HP:0000554Uveitis2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512955961300248
HP:0000554HP:0000554Uveitis2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02620715455300294
HP:0000554HP:0000554Uveitis2MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA01157380142408
HP:0000554HP:0000554Uveitis2TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA014862411634602272
HP:0000554HP:0000554Uveitis2TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM073411834606781
HP:0000554HP:0000554Uveitis2TNFRSF1A CL E G H713232960ORPHA010927911916191190


Genes (33) :ANKRD55 ATOH7 BCL10 BIRC3 BTNL2 CAPN5 CD247 DNASE1L3 FOXP1 GPR35 HLA-DRB1 IGH IKBKG IL2RA IL2RB IL6 LACC1 MALT1 MBTPS2 MIF MST1 NLRC4 NLRP1 NLRP3 NOD2 PTPN2 PTPN22 STAT4 STUB1 TCF4 TKT TNFAIP3 TNFRSF1A

Diseases (20) :221900 797 193235 36412 171 464 308300 2273 1451 617388 575 186580 617044 32960 52417 85414 90340 616744 85410 412057
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.