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
..expand
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 H56244797ORPHA1191142606000
HP:0000554HP:0000554Uveitis0CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM13261482602537
HP:0000554HP:0000554Uveitis0CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM12371482602537
HP:0000554HP:0000554Uveitis0DNASE1L3 CL E G H177636412ORPHA11052959602244
HP:0000554HP:0000554Uveitis0DNASE1L3 CL E G H177636412ORPHA1452959602244
HP:0000554HP:0000554Uveitis0HLA-DRB1 CL E G H3123797ORPHA1244948142857
HP:0000554HP:0000554Uveitis0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13375961300248
HP:0000554HP:0000554Uveitis0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13265961300248
HP:0000554HP:0000554Uveitis0NLRC4 CL E G H584841451ORPHA140916412606831
HP:0000554HP:0000554Uveitis0NLRC4 CL E G H584841451ORPHA132116412606831
HP:0000554HP:0000554Uveitis0NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM138714374606636
HP:0000554HP:0000554Uveitis0NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM120214374606636
HP:0000554HP:0000554Uveitis0NLRP3 CL E G H1145481451ORPHA167616400606416
HP:0000554HP:0000554Uveitis0NLRP3 CL E G H1145481451ORPHA160516400606416
HP:0000554HP:0000554Uveitis0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA167616400606416
HP:0000554HP:0000554Uveitis0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA160516400606416
HP:0000554HP:0000554Uveitis0NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000554HP:0000554Uveitis0NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000554HP:0007813Nongranulomatous uveitis1BTNL2 CL E G H56244797ORPHA1191142606000
HP:0000554HP:0012124Intermediate uveitis1BTNL2 CL E G H56244797ORPHA1191142606000
HP:0000554HP:0012123Posterior uveitis1BTNL2 CL E G H56244797ORPHA1191142606000
HP:0000554HP:0012122Anterior uveitis1BTNL2 CL E G H56244797ORPHA1191142606000
HP:0000554HP:0012121Panuveitis1BTNL2 CL E G H56244797ORPHA1191142606000
HP:0000554HP:0007813Nongranulomatous uveitis1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM13261482602537
HP:0000554HP:0012123Posterior uveitis1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM13261482602537
HP:0000554HP:0007813Nongranulomatous uveitis1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM12371482602537
HP:0000554HP:0012123Posterior uveitis1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM12371482602537
HP:0000554HP:0012122Anterior uveitis1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM13261482602537
HP:0000554HP:0012124Intermediate uveitis1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM13261482602537
HP:0000554HP:0012121Panuveitis1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM13261482602537
HP:0000554HP:0012122Anterior uveitis1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM12371482602537
HP:0000554HP:0012124Intermediate uveitis1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM12371482602537
HP:0000554HP:0012121Panuveitis1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM12371482602537
HP:0000554HP:0012122Anterior uveitis1DNASE1L3 CL E G H177636412ORPHA11052959602244
HP:0000554HP:0012124Intermediate uveitis1DNASE1L3 CL E G H177636412ORPHA11052959602244
HP:0000554HP:0012121Panuveitis1DNASE1L3 CL E G H177636412ORPHA11052959602244
HP:0000554HP:0012122Anterior uveitis1DNASE1L3 CL E G H177636412ORPHA1452959602244
HP:0000554HP:0012124Intermediate uveitis1DNASE1L3 CL E G H177636412ORPHA1452959602244
HP:0000554HP:0012121Panuveitis1DNASE1L3 CL E G H177636412ORPHA1452959602244
HP:0000554HP:0012123Posterior uveitis1DNASE1L3 CL E G H177636412ORPHA11052959602244
HP:0000554HP:0007813Nongranulomatous uveitis1DNASE1L3 CL E G H177636412ORPHA11052959602244
HP:0000554HP:0007813Nongranulomatous uveitis1DNASE1L3 CL E G H177636412ORPHA1452959602244
HP:0000554HP:0012123Posterior uveitis1DNASE1L3 CL E G H177636412ORPHA1452959602244
HP:0000554HP:0012122Anterior uveitis1HLA-DRB1 CL E G H3123797ORPHA1244948142857
HP:0000554HP:0012121Panuveitis1HLA-DRB1 CL E G H3123797ORPHA1244948142857
HP:0000554HP:0007813Nongranulomatous uveitis1HLA-DRB1 CL E G H3123797ORPHA1244948142857
HP:0000554HP:0012124Intermediate uveitis1HLA-DRB1 CL E G H3123797ORPHA1244948142857
HP:0000554HP:0012123Posterior uveitis1HLA-DRB1 CL E G H3123797ORPHA1244948142857
HP:0000554HP:0007813Nongranulomatous uveitis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13375961300248
HP:0000554HP:0012123Posterior uveitis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13375961300248
HP:0000554HP:0012123Posterior uveitis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13265961300248
HP:0000554HP:0007813Nongranulomatous uveitis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13265961300248
HP:0000554HP:0012121Panuveitis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13375961300248
HP:0000554HP:0012122Anterior uveitis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13375961300248
HP:0000554HP:0012124Intermediate uveitis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13375961300248
HP:0000554HP:0012121Panuveitis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13265961300248
HP:0000554HP:0012122Anterior uveitis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13265961300248
HP:0000554HP:0012124Intermediate uveitis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13265961300248
HP:0000554HP:0012122Anterior uveitis1NLRC4 CL E G H584841451ORPHA140916412606831
HP:0000554HP:0012124Intermediate uveitis1NLRC4 CL E G H584841451ORPHA140916412606831
HP:0000554HP:0012121Panuveitis1NLRC4 CL E G H584841451ORPHA140916412606831
HP:0000554HP:0012122Anterior uveitis1NLRC4 CL E G H584841451ORPHA132116412606831
HP:0000554HP:0012124Intermediate uveitis1NLRC4 CL E G H584841451ORPHA132116412606831
HP:0000554HP:0012121Panuveitis1NLRC4 CL E G H584841451ORPHA132116412606831
HP:0000554HP:0012123Posterior uveitis1NLRC4 CL E G H584841451ORPHA140916412606831
HP:0000554HP:0007813Nongranulomatous uveitis1NLRC4 CL E G H584841451ORPHA140916412606831
HP:0000554HP:0007813Nongranulomatous uveitis1NLRC4 CL E G H584841451ORPHA132116412606831
HP:0000554HP:0012123Posterior uveitis1NLRC4 CL E G H584841451ORPHA132116412606831
HP:0000554HP:0007813Nongranulomatous uveitis1NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM138714374606636
HP:0000554HP:0012123Posterior uveitis1NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM138714374606636
HP:0000554HP:0007813Nongranulomatous uveitis1NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM120214374606636
HP:0000554HP:0012123Posterior uveitis1NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM120214374606636
HP:0000554HP:0012122Anterior uveitis1NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM138714374606636
HP:0000554HP:0012124Intermediate uveitis1NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM138714374606636
HP:0000554HP:0012121Panuveitis1NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM138714374606636
HP:0000554HP:0012122Anterior uveitis1NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM120214374606636
HP:0000554HP:0012124Intermediate uveitis1NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM120214374606636
HP:0000554HP:0012121Panuveitis1NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM120214374606636
HP:0000554HP:0007813Nongranulomatous uveitis1NLRP3 CL E G H1145481451ORPHA167616400606416
HP:0000554HP:0012123Posterior uveitis1NLRP3 CL E G H1145481451ORPHA167616400606416
HP:0000554HP:0007813Nongranulomatous uveitis1NLRP3 CL E G H1145481451ORPHA160516400606416
HP:0000554HP:0012123Posterior uveitis1NLRP3 CL E G H1145481451ORPHA160516400606416
HP:0000554HP:0012122Anterior uveitis1NLRP3 CL E G H1145481451ORPHA167616400606416
HP:0000554HP:0012124Intermediate uveitis1NLRP3 CL E G H1145481451ORPHA167616400606416
HP:0000554HP:0012121Panuveitis1NLRP3 CL E G H1145481451ORPHA167616400606416
HP:0000554HP:0012122Anterior uveitis1NLRP3 CL E G H1145481451ORPHA160516400606416
HP:0000554HP:0012124Intermediate uveitis1NLRP3 CL E G H1145481451ORPHA160516400606416
HP:0000554HP:0012121Panuveitis1NLRP3 CL E G H1145481451ORPHA160516400606416
HP:0000554HP:0012124Intermediate uveitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA167616400606416
HP:0000554HP:0012121Panuveitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA167616400606416
HP:0000554HP:0012122Anterior uveitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA167616400606416
HP:0000554HP:0012124Intermediate uveitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA160516400606416
HP:0000554HP:0012121Panuveitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA160516400606416
HP:0000554HP:0012122Anterior uveitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA160516400606416
HP:0000554HP:0007813Nongranulomatous uveitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA167616400606416
HP:0000554HP:0012123Posterior uveitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA167616400606416
HP:0000554HP:0007813Nongranulomatous uveitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA160516400606416
HP:0000554HP:0012123Posterior uveitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA160516400606416
HP:0000554HP:0012122Anterior uveitis1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000554HP:0012124Intermediate uveitis1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000554HP:0012121Panuveitis1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000554HP:0012122Anterior uveitis1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000554HP:0012124Intermediate uveitis1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000554HP:0012121Panuveitis1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000554HP:0012123Posterior uveitis1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000554HP:0007813Nongranulomatous uveitis1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000554HP:0007813Nongranulomatous uveitis1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000554HP:0012123Posterior uveitis1NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
HP:0000554HP:0001094Iridocyclitis2BTNL2 CL E G H56244797ORPHA1191142606000
HP:0000554HP:0001094Iridocyclitis2CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM13261482602537
HP:0000554HP:0001094Iridocyclitis2CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM12371482602537
HP:0000554HP:0001094Iridocyclitis2DNASE1L3 CL E G H177636412ORPHA11052959602244
HP:0000554HP:0001094Iridocyclitis2DNASE1L3 CL E G H177636412ORPHA1452959602244
HP:0000554HP:0001094Iridocyclitis2HLA-DRB1 CL E G H3123797ORPHA1244948142857
HP:0000554HP:0001094Iridocyclitis2IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13375961300248
HP:0000554HP:0001094Iridocyclitis2IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM13265961300248
HP:0000554HP:0001094Iridocyclitis2NLRC4 CL E G H584841451ORPHA140916412606831
HP:0000554HP:0001094Iridocyclitis2NLRC4 CL E G H584841451ORPHA132116412606831
HP:0000554HP:0001094Iridocyclitis2NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM138714374606636
HP:0000554HP:0001094Iridocyclitis2NLRP1 CL E G H22861617388Autoinflammation with arthritis and dyskeratosis617388C4479278OMIM120214374606636
HP:0000554HP:0001094Iridocyclitis2NLRP3 CL E G H1145481451ORPHA167616400606416
HP:0000554HP:0001094Iridocyclitis2NLRP3 CL E G H1145481451ORPHA160516400606416
HP:0000554HP:0001094Iridocyclitis2NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA167616400606416
HP:0000554HP:0001094Iridocyclitis2NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA160516400606416
HP:0000554HP:0001094Iridocyclitis2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM16535331605956
HP:0000554HP:0001094Iridocyclitis2NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM15615331605956
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000554HP:0000554Uveitis0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM010613907609875
HP:0000554HP:0000554Uveitis0ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM07513907609875
HP:0000554HP:0000554Uveitis0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01224492602646
HP:0000554HP:0000554Uveitis0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01154492602646
HP:0000554HP:0000554Uveitis0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03375961300248
HP:0000554HP:0000554Uveitis0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03265961300248
HP:0000554HP:0000554Uveitis0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000554HP:0000554Uveitis0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000554HP:0000554Uveitis0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0177380142408
HP:0000554HP:0000554Uveitis0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0167380142408
HP:0000554HP:0000554Uveitis0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA081211634602272
HP:0000554HP:0000554Uveitis0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA075611634602272
HP:0000554HP:0000554Uveitis0TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM04611834606781
HP:0000554HP:0000554Uveitis0TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM04011834606781
HP:0000554HP:0000554Uveitis0TNFRSF1A CL E G H713232960ORPHA039611916191190
HP:0000554HP:0000554Uveitis0TNFRSF1A CL E G H713232960ORPHA035211916191190
HP:0000554HP:0012124Intermediate uveitis1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM010613907609875
HP:0000554HP:0012121Panuveitis1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM010613907609875
HP:0000554HP:0012122Anterior uveitis1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM010613907609875
HP:0000554HP:0012124Intermediate uveitis1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM07513907609875
HP:0000554HP:0012121Panuveitis1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM07513907609875
HP:0000554HP:0012122Anterior uveitis1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM07513907609875
HP:0000554HP:0007813Nongranulomatous uveitis1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM010613907609875
HP:0000554HP:0012123Posterior uveitis1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM010613907609875
HP:0000554HP:0007813Nongranulomatous uveitis1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM07513907609875
HP:0000554HP:0012123Posterior uveitis1ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM07513907609875
HP:0000554HP:0012124Intermediate uveitis1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01224492602646
HP:0000554HP:0012121Panuveitis1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01224492602646
HP:0000554HP:0012122Anterior uveitis1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01224492602646
HP:0000554HP:0012124Intermediate uveitis1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01154492602646
HP:0000554HP:0012121Panuveitis1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01154492602646
HP:0000554HP:0012122Anterior uveitis1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01154492602646
HP:0000554HP:0007813Nongranulomatous uveitis1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01224492602646
HP:0000554HP:0012123Posterior uveitis1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01224492602646
HP:0000554HP:0007813Nongranulomatous uveitis1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01154492602646
HP:0000554HP:0012123Posterior uveitis1GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01154492602646
HP:0000554HP:0007813Nongranulomatous uveitis1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03375961300248
HP:0000554HP:0012123Posterior uveitis1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03375961300248
HP:0000554HP:0007813Nongranulomatous uveitis1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03265961300248
HP:0000554HP:0012123Posterior uveitis1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03265961300248
HP:0000554HP:0012122Anterior uveitis1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03375961300248
HP:0000554HP:0012124Intermediate uveitis1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03375961300248
HP:0000554HP:0012121Panuveitis1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03375961300248
HP:0000554HP:0012122Anterior uveitis1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03265961300248
HP:0000554HP:0012124Intermediate uveitis1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03265961300248
HP:0000554HP:0012121Panuveitis1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03265961300248
HP:0000554HP:0012124Intermediate uveitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000554HP:0012121Panuveitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000554HP:0012122Anterior uveitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000554HP:0012124Intermediate uveitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000554HP:0012121Panuveitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000554HP:0012122Anterior uveitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000554HP:0007813Nongranulomatous uveitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000554HP:0012123Posterior uveitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000554HP:0007813Nongranulomatous uveitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000554HP:0012123Posterior uveitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000554HP:0007813Nongranulomatous uveitis1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0177380142408
HP:0000554HP:0012123Posterior uveitis1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0177380142408
HP:0000554HP:0012123Posterior uveitis1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0167380142408
HP:0000554HP:0007813Nongranulomatous uveitis1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0167380142408
HP:0000554HP:0012121Panuveitis1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0177380142408
HP:0000554HP:0012122Anterior uveitis1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0177380142408
HP:0000554HP:0012124Intermediate uveitis1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0177380142408
HP:0000554HP:0012121Panuveitis1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0167380142408
HP:0000554HP:0012122Anterior uveitis1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0167380142408
HP:0000554HP:0012124Intermediate uveitis1MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0167380142408
HP:0000554HP:0012122Anterior uveitis1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA081211634602272
HP:0000554HP:0012124Intermediate uveitis1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA081211634602272
HP:0000554HP:0012121Panuveitis1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA081211634602272
HP:0000554HP:0012122Anterior uveitis1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA075611634602272
HP:0000554HP:0012124Intermediate uveitis1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA075611634602272
HP:0000554HP:0012121Panuveitis1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA075611634602272
HP:0000554HP:0012123Posterior uveitis1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA081211634602272
HP:0000554HP:0007813Nongranulomatous uveitis1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA081211634602272
HP:0000554HP:0007813Nongranulomatous uveitis1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA075611634602272
HP:0000554HP:0012123Posterior uveitis1TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA075611634602272
HP:0000554HP:0012122Anterior uveitis1TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM04611834606781
HP:0000554HP:0012124Intermediate uveitis1TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM04611834606781
HP:0000554HP:0012121Panuveitis1TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM04611834606781
HP:0000554HP:0012122Anterior uveitis1TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM04011834606781
HP:0000554HP:0012124Intermediate uveitis1TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM04011834606781
HP:0000554HP:0012121Panuveitis1TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM04011834606781
HP:0000554HP:0012123Posterior uveitis1TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM04611834606781
HP:0000554HP:0007813Nongranulomatous uveitis1TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM04611834606781
HP:0000554HP:0007813Nongranulomatous uveitis1TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM04011834606781
HP:0000554HP:0012123Posterior uveitis1TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM04011834606781
HP:0000554HP:0007813Nongranulomatous uveitis1TNFRSF1A CL E G H713232960ORPHA039611916191190
HP:0000554HP:0012123Posterior uveitis1TNFRSF1A CL E G H713232960ORPHA039611916191190
HP:0000554HP:0007813Nongranulomatous uveitis1TNFRSF1A CL E G H713232960ORPHA035211916191190
HP:0000554HP:0012123Posterior uveitis1TNFRSF1A CL E G H713232960ORPHA035211916191190
HP:0000554HP:0012121Panuveitis1TNFRSF1A CL E G H713232960ORPHA039611916191190
HP:0000554HP:0012122Anterior uveitis1TNFRSF1A CL E G H713232960ORPHA039611916191190
HP:0000554HP:0012124Intermediate uveitis1TNFRSF1A CL E G H713232960ORPHA039611916191190
HP:0000554HP:0012121Panuveitis1TNFRSF1A CL E G H713232960ORPHA035211916191190
HP:0000554HP:0012122Anterior uveitis1TNFRSF1A CL E G H713232960ORPHA035211916191190
HP:0000554HP:0012124Intermediate uveitis1TNFRSF1A CL E G H713232960ORPHA035211916191190
HP:0000554HP:0001094Iridocyclitis2ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM010613907609875
HP:0000554HP:0001094Iridocyclitis2ATOH7 CL E G H220202221900Persistent hyperplastic primary vitreous, autosomal recessive221900C1857299OMIM07513907609875
HP:0000554HP:0001094Iridocyclitis2GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01224492602646
HP:0000554HP:0001094Iridocyclitis2GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01154492602646
HP:0000554HP:0001094Iridocyclitis2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03375961300248
HP:0000554HP:0001094Iridocyclitis2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA03265961300248
HP:0000554HP:0001094Iridocyclitis2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000554HP:0001094Iridocyclitis2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000554HP:0001094Iridocyclitis2MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0177380142408
HP:0000554HP:0001094Iridocyclitis2MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0167380142408
HP:0000554HP:0001094Iridocyclitis2TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA081211634602272
HP:0000554HP:0001094Iridocyclitis2TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA075611634602272
HP:0000554HP:0001094Iridocyclitis2TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM04611834606781
HP:0000554HP:0001094Iridocyclitis2TKT CL E G H7086617044Short stature, developmental delay, and congenital heart defects617044C4310751OMIM04011834606781
HP:0000554HP:0001094Iridocyclitis2TNFRSF1A CL E G H713232960ORPHA039611916191190
HP:0000554HP:0001094Iridocyclitis2TNFRSF1A CL E G H713232960ORPHA035211916191190


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 August 2021 release.