Human Phenotype Ontology 
Grandparent Node:
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Abnormal uvea morphology (HP:0000553)help
Grandparent Node:
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Inflammatory abnormality of the eye (HP:0100533)help
Parent Node:
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Uveitis (HP:0000554)help
..Starting node
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Anterior uveitis (HP:0012122)help
Term ID: 12122
Name: Anterior uveitis
Synonym:
Definition: Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber.
Comments:
Reference: HP:0012122
Genes and Diseases:
 
       Child Nodes:
........expandIridocyclitis (HP:0001094) help

 Sister Nodes: 
..expandIntermediate uveitis (HP:0012124) help
..expandNongranulomatous uveitis (HP:0007813) help
..expandPanuveitis (HP:0012121) help
..expandPosterior uveitis (HP:0012123) 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:0012122HP:0012122Anterior uveitis0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0012122HP:0012122Anterior uveitis0ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012122HP:0012122Anterior uveitis0CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis8
HP:0012122HP:0012122Anterior uveitis0HLA-B CL E G H31064932OMIM:106300Spondyloarthropathy, susceptibility to, 1.4
HP:0012122HP:0012122Anterior uveitis0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0012122HP:0012122Anterior uveitis0HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0012122HP:0012122Anterior uveitis0IKBKG CL E G H85175961OMIM:30108152
HP:0012122HP:0012122Anterior uveitis0IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis65
HP:0012122HP:0012122Anterior uveitis0IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012122HP:0012122Anterior uveitis0IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0012122HP:0012122Anterior uveitis0LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional1
HP:0012122HP:0012122Anterior uveitis0MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional1
HP:0012122HP:0012122Anterior uveitis0NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0012122HP:0012122Anterior uveitis0PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0012122HP:0012122Anterior uveitis0PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis3
HP:0012122HP:0012122Anterior uveitis0STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis2
HP:0012122HP:0012122Anterior uveitis0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0012122HP:0012122Anterior uveitis0TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0012122HP:0001094Iridocyclitis1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0012122HP:0001094Iridocyclitis1ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare
HP:0012122HP:0001094Iridocyclitis1CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare8
HP:0012122HP:0001094Iridocyclitis1HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1.2
HP:0012122HP:0001094Iridocyclitis1IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare65
HP:0012122HP:0001094Iridocyclitis1IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare
HP:0012122HP:0001094Iridocyclitis1NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040281 - Very frequent187
HP:0012122HP:0001094Iridocyclitis1PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare
HP:0012122HP:0001094Iridocyclitis1PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare3
HP:0012122HP:0001094Iridocyclitis1STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040284 - Very rare2
HP:0012122HP:0001094Iridocyclitis1STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040284 - Very rare14


Genes (17) :AIRE ANKRD55 CD247 HLA-B HLA-DRB1 IKBKG IL2RA IL2RB IL6 LACC1 MIF NOD2 PTPN2 PTPN22 STAT4 STUB1 TNFAIP3

Diseases (9) :OMIM:240300 ORPHA:85408 OMIM:106300 OMIM:181000 ORPHA:85414 OMIM:301081 ORPHA:90340 ORPHA:412057 OMIM:616744
 

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