Human Phenotype Ontology 
Grandparent Node:
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Abnormal inflammatory response (HP:0012647)help
Parent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Increased inflammatory response (HP:0012649)help
..Starting node
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Inflammatory abnormality of the eye (HP:0100533)help
Term ID: 100533
Name: Inflammatory abnormality of the eye
Synonym: Inflammatory abnormality of the eye; Ocular inflammation
Definition: Inflammation of the eye, parts of the eye or the periorbital region.
Comments:
Reference: HP:0100533
Genes and Diseases:
 
       Child Nodes:
........expandKeratitis (HP:0000491) help
................... HP:0001096 Keratoconjunctivitis
................... HP:0011859 Punctate keratitis
........expandBlepharitis (HP:0000498) help
................... HP:0025609 Anterior blepharitis
................... HP:0025610 Posterior blepharitis
........expandConjunctivitis (HP:0000509) help
................... HP:0001096 Keratoconjunctivitis
................... HP:0007717 Chronic irritative conjunctivitis
................... HP:0007879 Allergic conjunctivitis
........expandUveitis (HP:0000554) help
................... HP:0007813 Nongranulomatous uveitis
................... HP:0012121 Panuveitis
................... HP:0012122 Anterior uveitis
................... HP:0012123 Posterior uveitis
................... HP:0012124 Intermediate uveitis
........expandScleritis (HP:0100532) help
........expandEpiscleritis (HP:0100534) help

 Sister Nodes: 
..expandCholangitis (HP:0030151) help
..expandChondritis (HP:0100662) help
..expandEndocarditis (HP:0100584) help
..expandEpididymitis (HP:0000031) help
..expandFasciitis (HP:0100537) help
..expandGastrointestinal inflammation (HP:0004386) help
..expandHepatitis (HP:0012115) help
..expandInflammatory abnormality of the skin (HP:0011123) help
..expandLymphadenitis (HP:0002840) help
..expandMeningitis (HP:0001287) help
..expandMyelitis (HP:0012486) help
..expandMyositis (HP:0100614) help
..expandNephritis (HP:0000123) help
..expandOptic neuritis (HP:0100653) help
..expandOsteomyelitis (HP:0002754) help
..expandOtitis media (HP:0000388) help
..expandPancreatitis (HP:0001733) help
..expandPanniculitis (HP:0012490) help
..expandPeriodontitis (HP:0000704) help
..expandPneumonia (HP:0002090) help
..expandProstatitis (HP:0000024) help
..expandSerositis (HP:0045073) help
..expandSinusitis (HP:0000246) help
..expandStomatitis (HP:0010280) help
..expandThyroiditis (HP:0100646) help
..expandUrinary bladder inflammation (HP:0100577) help
..expandVaginitis (HP:0030683) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100533HP:0100533Inflammatory abnormality of the eye0ALDH3A2 CL E G H224816ORPHA1111430403609523
HP:0100533HP:0100533Inflammatory abnormality of the eye0CTLA4 CL E G H1493900ORPHA1721432505123890
HP:0100533HP:0100533Inflammatory abnormality of the eye0FGFR3 CL E G H226193262ORPHA1775083690134934
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177184931142800
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-B CL E G H31063287ORPHA153174932142830
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-DPA1 CL E G H3113900ORPHA11154938142880
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-DPB1 CL E G H3115900ORPHA19154940142858
HP:0100533HP:0100533Inflammatory abnormality of the eye0IL12B CL E G H35933287ORPHA1191345970161561
HP:0100533HP:0100533Inflammatory abnormality of the eye0MLX CL E G H69453287ORPHA112011645602976
HP:0100533HP:0100533Inflammatory abnormality of the eye0PRTN3 CL E G H5657900ORPHA1449495177020
HP:0100533HP:0100533Inflammatory abnormality of the eye0PTPN22 CL E G H26191900ORPHA114319652600716
HP:0100533HP:0100533Inflammatory abnormality of the eye1ALDH3A2 CL E G H224816ORPHA1111430403609523
HP:0100533HP:0100533Inflammatory abnormality of the eye1CTLA4 CL E G H1493900ORPHA1721432505123890
HP:0100533HP:0100533Inflammatory abnormality of the eye1FGFR3 CL E G H226193262ORPHA1775083690134934
HP:0100533HP:0100533Inflammatory abnormality of the eye1HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177184931142800
HP:0100533HP:0100533Inflammatory abnormality of the eye1HLA-B CL E G H31063287ORPHA153174932142830
HP:0100533HP:0100533Inflammatory abnormality of the eye1HLA-DPA1 CL E G H3113900ORPHA11154938142880
HP:0100533HP:0100533Inflammatory abnormality of the eye1HLA-DPB1 CL E G H3115900ORPHA19154940142858
HP:0100533HP:0100533Inflammatory abnormality of the eye1IL12B CL E G H35933287ORPHA1191345970161561
HP:0100533HP:0100533Inflammatory abnormality of the eye1MLX CL E G H69453287ORPHA112011645602976
HP:0100533HP:0100533Inflammatory abnormality of the eye1PRTN3 CL E G H5657900ORPHA1449495177020
HP:0100533HP:0100533Inflammatory abnormality of the eye1PTPN22 CL E G H26191900ORPHA114319652600716
HP:0100533HP:0100533Inflammatory abnormality of the eye2ALDH3A2 CL E G H224816ORPHA1111430403609523
HP:0100533HP:0100533Inflammatory abnormality of the eye2CTLA4 CL E G H1493900ORPHA1721432505123890
HP:0100533HP:0100533Inflammatory abnormality of the eye2FGFR3 CL E G H226193262ORPHA1775083690134934
HP:0100533HP:0100533Inflammatory abnormality of the eye2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177184931142800
HP:0100533HP:0100533Inflammatory abnormality of the eye2HLA-B CL E G H31063287ORPHA153174932142830
HP:0100533HP:0100533Inflammatory abnormality of the eye2HLA-DPA1 CL E G H3113900ORPHA11154938142880
HP:0100533HP:0100533Inflammatory abnormality of the eye2HLA-DPB1 CL E G H3115900ORPHA19154940142858
HP:0100533HP:0100533Inflammatory abnormality of the eye2IL12B CL E G H35933287ORPHA1191345970161561
HP:0100533HP:0100533Inflammatory abnormality of the eye2MLX CL E G H69453287ORPHA112011645602976
HP:0100533HP:0100533Inflammatory abnormality of the eye2PRTN3 CL E G H5657900ORPHA1449495177020
HP:0100533HP:0100533Inflammatory abnormality of the eye2PTPN22 CL E G H26191900ORPHA114319652600716
HP:0100533HP:0100533Inflammatory abnormality of the eye3ALDH3A2 CL E G H224816ORPHA1111430403609523
HP:0100533HP:0100533Inflammatory abnormality of the eye3CTLA4 CL E G H1493900ORPHA1721432505123890
HP:0100533HP:0100533Inflammatory abnormality of the eye3FGFR3 CL E G H226193262ORPHA1775083690134934
HP:0100533HP:0100533Inflammatory abnormality of the eye3HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177184931142800
HP:0100533HP:0100533Inflammatory abnormality of the eye3HLA-B CL E G H31063287ORPHA153174932142830
HP:0100533HP:0100533Inflammatory abnormality of the eye3HLA-DPA1 CL E G H3113900ORPHA11154938142880
HP:0100533HP:0100533Inflammatory abnormality of the eye3HLA-DPB1 CL E G H3115900ORPHA19154940142858
HP:0100533HP:0100533Inflammatory abnormality of the eye3IL12B CL E G H35933287ORPHA1191345970161561
HP:0100533HP:0100533Inflammatory abnormality of the eye3MLX CL E G H69453287ORPHA112011645602976
HP:0100533HP:0100533Inflammatory abnormality of the eye3PRTN3 CL E G H5657900ORPHA1449495177020
HP:0100533HP:0100533Inflammatory abnormality of the eye3PTPN22 CL E G H26191900ORPHA114319652600716
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100533HP:0100533Inflammatory abnormality of the eye0BAP1 CL E G H831439044ORPHA01191483950603089
HP:0100533HP:0100533Inflammatory abnormality of the eye0CYBA CL E G H1535379ORPHA0763032577608508
HP:0100533HP:0100533Inflammatory abnormality of the eye0CYBB CL E G H1536379ORPHA07825272578300481
HP:0100533HP:0100533Inflammatory abnormality of the eye0CYBC1 CL E G H79415379ORPHA0156286720
HP:0100533HP:0100533Inflammatory abnormality of the eye0CYSLTR2 CL E G H5710539044ORPHA026318274605666
HP:0100533HP:0100533Inflammatory abnormality of the eye0GNA11 CL E G H276739044ORPHA0111284379139313
HP:0100533HP:0100533Inflammatory abnormality of the eye0GNAQ CL E G H277639044ORPHA06724390600998
HP:0100533HP:0100533Inflammatory abnormality of the eye0NCF1 CL E G H653361379ORPHA048967660608512
HP:0100533HP:0100533Inflammatory abnormality of the eye0NCF2 CL E G H4688379ORPHA0792747661608515
HP:0100533HP:0100533Inflammatory abnormality of the eye0NCF4 CL E G H4689379ORPHA0131947662601488
HP:0100533HP:0100533Inflammatory abnormality of the eye0SF3B1 CL E G H2345139044ORPHA046710768605590
HP:0100533HP:0100533Inflammatory abnormality of the eye1BAP1 CL E G H831439044ORPHA01191483950603089
HP:0100533HP:0100533Inflammatory abnormality of the eye1CYBA CL E G H1535379ORPHA0763032577608508
HP:0100533HP:0100533Inflammatory abnormality of the eye1CYBB CL E G H1536379ORPHA07825272578300481
HP:0100533HP:0100533Inflammatory abnormality of the eye1CYBC1 CL E G H79415379ORPHA0156286720
HP:0100533HP:0100533Inflammatory abnormality of the eye1CYSLTR2 CL E G H5710539044ORPHA026318274605666
HP:0100533HP:0100533Inflammatory abnormality of the eye1GNA11 CL E G H276739044ORPHA0111284379139313
HP:0100533HP:0100533Inflammatory abnormality of the eye1GNAQ CL E G H277639044ORPHA06724390600998
HP:0100533HP:0100533Inflammatory abnormality of the eye1NCF1 CL E G H653361379ORPHA048967660608512
HP:0100533HP:0100533Inflammatory abnormality of the eye1NCF2 CL E G H4688379ORPHA0792747661608515
HP:0100533HP:0100533Inflammatory abnormality of the eye1NCF4 CL E G H4689379ORPHA0131947662601488
HP:0100533HP:0100533Inflammatory abnormality of the eye1SF3B1 CL E G H2345139044ORPHA046710768605590
HP:0100533HP:0100533Inflammatory abnormality of the eye2BAP1 CL E G H831439044ORPHA01191483950603089
HP:0100533HP:0100533Inflammatory abnormality of the eye2CYBA CL E G H1535379ORPHA0763032577608508
HP:0100533HP:0100533Inflammatory abnormality of the eye2CYBB CL E G H1536379ORPHA07825272578300481
HP:0100533HP:0100533Inflammatory abnormality of the eye2CYBC1 CL E G H79415379ORPHA0156286720
HP:0100533HP:0100533Inflammatory abnormality of the eye2CYSLTR2 CL E G H5710539044ORPHA026318274605666
HP:0100533HP:0100533Inflammatory abnormality of the eye2GNA11 CL E G H276739044ORPHA0111284379139313
HP:0100533HP:0100533Inflammatory abnormality of the eye2GNAQ CL E G H277639044ORPHA06724390600998
HP:0100533HP:0100533Inflammatory abnormality of the eye2NCF1 CL E G H653361379ORPHA048967660608512
HP:0100533HP:0100533Inflammatory abnormality of the eye2NCF2 CL E G H4688379ORPHA0792747661608515
HP:0100533HP:0100533Inflammatory abnormality of the eye2NCF4 CL E G H4689379ORPHA0131947662601488
HP:0100533HP:0100533Inflammatory abnormality of the eye2SF3B1 CL E G H2345139044ORPHA046710768605590
HP:0100533HP:0100533Inflammatory abnormality of the eye3BAP1 CL E G H831439044ORPHA01191483950603089
HP:0100533HP:0100533Inflammatory abnormality of the eye3CYBA CL E G H1535379ORPHA0763032577608508
HP:0100533HP:0100533Inflammatory abnormality of the eye3CYBB CL E G H1536379ORPHA07825272578300481
HP:0100533HP:0100533Inflammatory abnormality of the eye3CYBC1 CL E G H79415379ORPHA0156286720
HP:0100533HP:0100533Inflammatory abnormality of the eye3CYSLTR2 CL E G H5710539044ORPHA026318274605666
HP:0100533HP:0100533Inflammatory abnormality of the eye3GNA11 CL E G H276739044ORPHA0111284379139313
HP:0100533HP:0100533Inflammatory abnormality of the eye3GNAQ CL E G H277639044ORPHA06724390600998
HP:0100533HP:0100533Inflammatory abnormality of the eye3NCF1 CL E G H653361379ORPHA048967660608512
HP:0100533HP:0100533Inflammatory abnormality of the eye3NCF2 CL E G H4688379ORPHA0792747661608515
HP:0100533HP:0100533Inflammatory abnormality of the eye3NCF4 CL E G H4689379ORPHA0131947662601488
HP:0100533HP:0100533Inflammatory abnormality of the eye3SF3B1 CL E G H2345139044ORPHA046710768605590


Genes (171) :ABCA12 ADAM17 AIRE ALDH3A2 ALOX12B ALOXE3 ANKRD55 APOE ATOH7 B2M BAP1 BCL10 BIRC3 BLNK BTD BTK BTNL2 C4A CAPN5 CCR1 CD19 CD247 CD79A CD79B CERS3 COL7A1 CR2 CRLF1 CTC1 CTLA4 CYBA CYBB CYBC1 CYSLTR2 DDB2 DKC1 DNASE1L3 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERF FAS FERMT1 FGFR2 FGFR3 FOXC2 FOXE3 FOXP1 GATA1 GJB2 GJB6 GNA11 GNAQ GNAS GPR35 HDAC8 HLA-A HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HLCS ICOS IGH IGHM IGLL1 IGSF3 IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL12B IL23R IL2RA IL2RB IL6 KLRC4 KMT2A LACC1 LBR LMNA LRBA LRRC8A MALT1 MBTPS2 MEFV MIF MLX MMP1 MPLKIP MSMO1 MST1 NCF1 NCF2 NCF4 NHP2 NIPAL4 NIPBL NLRC4 NLRP1 NLRP3 NOD2 NOP10 NTRK1 PARN PAX6 PIGN PIK3R1 PITX3 PKP1 PLCD1 PLEC PLG PLXND1 PNPLA1 POLH PRTN3 PSMB4 PSMB8 PSMB9 PTPN2 PTPN22 RAD21 RAG1 RAG2 REV3L RNF125 RTEL1 SAMD9 SCN9A SETD5 SF3B1 SLC29A3 SLC39A4 SMC1A SMC3 ST14 STAT4 STUB1 STX16 TBX4 TCF3 TCF4 TERC TERT TFRC TGM1 TINF2 TKT TLR4 TNFAIP3 TNFRSF13B TNFRSF13C TNFRSF1A TNXB TP63 TRAF3IP2 UBAC2 UROS USB1 WAS WIPF1 WRAP53 XPA XPC ZEB1 ZMPSTE24

Diseases (120) :816 39044 900 379 93262 179 3287 79394 614328 158029 221900 33110 253260 47 300755 307200 797 193235 240500 613493 612692 79408 79409 226600 272430 1775 910 278740 305000 36412 278730 278800 207 2908 123500 33001 153400 79277 477 129500 94089 79444 79443 171 199 36426 607594 601495 149700 464 308300 614700 2273 308205 308800 616834 47045 1451 617388 575 191900 120100 148200 90340 186580 256800 148190 280633 158668 2387 226670 217090 570 90342 278750 617591 256040 601457 610455 602782 37 602400 261279 616740 617044 32960 69085 103285 1896 604292 106260 615527 263700 604173 906 278700 278720 613270 240300 52417 79241 602540 85414 79242 300918 97231 616744 85410 314652 117 601675 88632 148210 779 740 234050 616260 133020 412057 285
 

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