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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000554HP:0000554Uveitis0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000554HP:0000554Uveitis0ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0000554HP:0000554Uveitis0ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0000554HP:0000554Uveitis0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessiveHP:0040283 - Occasional4
HP:0000554HP:0000554Uveitis0BCL10 CL E G H8915989ORPHA:52417MALT lymphoma18
HP:0000554HP:0000554Uveitis0BIRC3 CL E G H330591ORPHA:52417MALT lymphoma
HP:0000554HP:0000554Uveitis0BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0000554HP:0000554Uveitis0BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040282 - Frequent1
HP:0000554HP:0000554Uveitis0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 2.1
HP:0000554HP:0000554Uveitis0CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory.6
HP:0000554HP:0000554Uveitis0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare87
HP:0000554HP:0000554Uveitis0CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent8
HP:0000554HP:0000554Uveitis0CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional8
HP:0000554HP:0000554Uveitis0CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0000554HP:0000554Uveitis0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040282 - Frequent3
HP:0000554HP:0000554Uveitis0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0000554HP:0000554Uveitis0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0000554HP:0000554Uveitis0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0000554HP:0000554Uveitis0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0000554HP:0000554Uveitis0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0000554HP:0000554Uveitis0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0000554HP:0000554Uveitis0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare59
HP:0000554HP:0000554Uveitis0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare37
HP:0000554HP:0000554Uveitis0FOXP1 CL E G H270863823ORPHA:52417MALT lymphoma184
HP:0000554HP:0000554Uveitis0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040284 - Very rare2
HP:0000554HP:0000554Uveitis0HLA-B CL E G H31064932OMIM:106300Spondyloarthropathy, susceptibility to, 14
HP:0000554HP:0000554Uveitis0HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040282 - Frequent2
HP:0000554HP:0000554Uveitis0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1.2
HP:0000554HP:0000554Uveitis0HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritis2
HP:0000554HP:0000554Uveitis0IGH CL E G H34925477ORPHA:52417MALT lymphoma7
HP:0000554HP:0000554Uveitis0IKBKG CL E G H85175961OMIM:30108152
HP:0000554HP:0000554Uveitis0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0000554HP:0000554Uveitis0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0000554HP:0000554Uveitis0IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent65
HP:0000554HP:0000554Uveitis0IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional65
HP:0000554HP:0000554Uveitis0IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0000554HP:0000554Uveitis0IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0000554HP:0000554Uveitis0IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritis2
HP:0000554HP:0000554Uveitis0IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040282 - Frequent1
HP:0000554HP:0000554Uveitis0LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritis1
HP:0000554HP:0000554Uveitis0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0000554HP:0000554Uveitis0MALT1 CL E G H108926819ORPHA:52417MALT lymphoma6
HP:0000554HP:0000554Uveitis0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0000554HP:0000554Uveitis0MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritis1
HP:0000554HP:0000554Uveitis0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040284 - Very rare1
HP:0000554HP:0000554Uveitis0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0000554HP:0000554Uveitis0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040281 - Very frequent217
HP:0000554HP:0000554Uveitis0NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0000554HP:0000554Uveitis0NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0000554HP:0000554Uveitis0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040281 - Very frequent217
HP:0000554HP:0000554Uveitis0NOD2 CL E G H641275331OMIM:186580Blau syndrome187
HP:0000554HP:0000554Uveitis0NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0000554HP:0000554Uveitis0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare10
HP:0000554HP:0000554Uveitis0PTPN2 CL E G H57719650ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0000554HP:0000554Uveitis0PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0000554HP:0000554Uveitis0PTPN22 CL E G H261919652ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent3
HP:0000554HP:0000554Uveitis0PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional3
HP:0000554HP:0000554Uveitis0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare
HP:0000554HP:0000554Uveitis0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040284 - Very rare
HP:0000554HP:0000554Uveitis0STAT4 CL E G H677511365ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent2
HP:0000554HP:0000554Uveitis0STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0000554HP:0000554Uveitis0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0000554HP:0000554Uveitis0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040284 - Very rare241
HP:0000554HP:0000554Uveitis0TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defectsHP:0040283 - Occasional4
HP:0000554HP:0000554Uveitis0TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040282 - Frequent4
HP:0000554HP:0000554Uveitis0TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0000554HP:0000554Uveitis0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040283 - Occasional131
HP:0000554HP:0012124Intermediate uveitis1 CL E G H
HP:0000554HP:0012122Anterior uveitis1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000554HP:0012122Anterior uveitis1ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0000554HP:0012123Posterior uveitis1BCL10 CL E G H8915989ORPHA:52417MALT lymphomaHP:0040283 - Occasional18
HP:0000554HP:0012123Posterior uveitis1BIRC3 CL E G H330591ORPHA:52417MALT lymphomaHP:0040283 - Occasional
HP:0000554HP:0012122Anterior uveitis1CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis8
HP:0000554HP:0012123Posterior uveitis1FOXP1 CL E G H270863823ORPHA:52417MALT lymphomaHP:0040283 - Occasional184
HP:0000554HP:0012122Anterior uveitis1HLA-B CL E G H31064932OMIM:106300Spondyloarthropathy, susceptibility to, 1.4
HP:0000554HP:0012122Anterior uveitis1HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0000554HP:0012122Anterior uveitis1HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0000554HP:0012123Posterior uveitis1IGH CL E G H34925477ORPHA:52417MALT lymphomaHP:0040283 - Occasional7
HP:0000554HP:0012122Anterior uveitis1IKBKG CL E G H85175961OMIM:30108152
HP:0000554HP:0012121Panuveitis1IKBKG CL E G H85175961OMIM:30108152
HP:0000554HP:0012122Anterior uveitis1IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis65
HP:0000554HP:0012122Anterior uveitis1IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0000554HP:0012122Anterior uveitis1IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0000554HP:0012122Anterior uveitis1LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional1
HP:0000554HP:0012123Posterior uveitis1MALT1 CL E G H108926819ORPHA:52417MALT lymphomaHP:0040283 - Occasional6
HP:0000554HP:0012122Anterior uveitis1MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional1
HP:0000554HP:0012123Posterior uveitis1NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040281 - Very frequent187
HP:0000554HP:0012122Anterior uveitis1NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0000554HP:0007813Nongranulomatous uveitis1NOD2 CL E G H641275331OMIM:186580Blau syndrome.187
HP:0000554HP:0012122Anterior uveitis1PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0000554HP:0012122Anterior uveitis1PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis3
HP:0000554HP:0012122Anterior uveitis1STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis2
HP:0000554HP:0012122Anterior uveitis1STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0000554HP:0012122Anterior uveitis1TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0000554HP:0001094Iridocyclitis2AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000554HP:0001094Iridocyclitis2ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare
HP:0000554HP:0001094Iridocyclitis2CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare8
HP:0000554HP:0001094Iridocyclitis2HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1.2
HP:0000554HP:0001094Iridocyclitis2IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare65
HP:0000554HP:0001094Iridocyclitis2IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare
HP:0000554HP:0001094Iridocyclitis2NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040281 - Very frequent187
HP:0000554HP:0001094Iridocyclitis2PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare
HP:0000554HP:0001094Iridocyclitis2PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare3
HP:0000554HP:0001094Iridocyclitis2STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare2
HP:0000554HP:0001094Iridocyclitis2STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040284 - Very rare14


Genes (48) :AIRE ANKRD55 ATOH7 BCL10 BIRC3 BLM BTNL2 CAPN5 CASP10 CD247 CD27 DNASE1L3 ERCC1 ERCC4 ERCC6 ERCC8 FAS FASLG FOXP1 GPR35 HLA-B HLA-DRB1 IGH IKBKG IL2RA IL2RB IL6 IRF4 LACC1 LRBA MALT1 MBTPS2 MIF MST1 NLRP1 NLRP3 NOD2 PRKCD PTPN2 PTPN22 RASGRP1 SEMA4D STAT4 STUB1 TCF4 TKT TNFAIP3 TNFRSF1A

Diseases (36) :OMIM:240300 ORPHA:85410 ORPHA:85408 OMIM:221900 ORPHA:52417 ORPHA:125 ORPHA:797 OMIM:612387 OMIM:193235 ORPHA:3261 OMIM:615122 ORPHA:36412 ORPHA:90322 ORPHA:90321 ORPHA:171 OMIM:106300 OMIM:181000 ORPHA:85414 OMIM:301081 OMIM:308300 ORPHA:464 ORPHA:3452 OMIM:614700 ORPHA:2273 OMIM:617388 ORPHA:1451 OMIM:607115 OMIM:120100 ORPHA:575 OMIM:186580 ORPHA:90340 ORPHA:412057 OMIM:617044 ORPHA:488618 OMIM:616744 ORPHA:32960
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.