Human Phenotype Ontology 
Grandparent Node:
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Abnormal inflammatory response (HP:0012647)help
Parent Node:
expand
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 H224816ORPHA1538403609523
HP:0100533HP:0100533Inflammatory abnormality of the eye0CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0100533Inflammatory abnormality of the eye0FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0100533Inflammatory abnormality of the eye0IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0100533Inflammatory abnormality of the eye0MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0100533Inflammatory abnormality of the eye0PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0100533Inflammatory abnormality of the eye0PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0000509Conjunctivitis1ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0100532Scleritis1ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0100534Episcleritis1ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0000554Uveitis1ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0000498Blepharitis1ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0000491Keratitis1ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0100534Episcleritis1CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0000554Uveitis1CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0000498Blepharitis1CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0000491Keratitis1CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0100532Scleritis1CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0000509Conjunctivitis1CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0000498Blepharitis1FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0000491Keratitis1FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0000554Uveitis1FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0000509Conjunctivitis1FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0100532Scleritis1FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0100534Episcleritis1FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0100534Episcleritis1HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0000554Uveitis1HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0000498Blepharitis1HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0000491Keratitis1HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0100532Scleritis1HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0000509Conjunctivitis1HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0000498Blepharitis1HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0000491Keratitis1HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0000554Uveitis1HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0000509Conjunctivitis1HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0100532Scleritis1HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0100534Episcleritis1HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0000491Keratitis1HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0000554Uveitis1HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0000498Blepharitis1HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0100532Scleritis1HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0000509Conjunctivitis1HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0100534Episcleritis1HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0000491Keratitis1HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0000554Uveitis1HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0000498Blepharitis1HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0100532Scleritis1HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0000509Conjunctivitis1HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0100534Episcleritis1HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0000498Blepharitis1IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0000491Keratitis1IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0000554Uveitis1IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0000509Conjunctivitis1IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0100532Scleritis1IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0100534Episcleritis1IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0000509Conjunctivitis1MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0100532Scleritis1MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0100534Episcleritis1MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0000554Uveitis1MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0000498Blepharitis1MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0000491Keratitis1MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0100532Scleritis1PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0000509Conjunctivitis1PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0100534Episcleritis1PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0000498Blepharitis1PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0000491Keratitis1PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0000554Uveitis1PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0100534Episcleritis1PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0000498Blepharitis1PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0000491Keratitis1PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0000554Uveitis1PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0100532Scleritis1PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0000509Conjunctivitis1PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0012124Intermediate uveitis2ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0012123Posterior uveitis2ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0001096Keratoconjunctivitis2ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0025610Posterior blepharitis2ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0012122Anterior uveitis2ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0012121Panuveitis2ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0007717Chronic irritative conjunctivitis2ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0025609Anterior blepharitis2ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0011859Punctate keratitis2ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0007813Nongranulomatous uveitis2ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0007879Allergic conjunctivitis2ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0012123Posterior uveitis2CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0001096Keratoconjunctivitis2CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0025610Posterior blepharitis2CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0012122Anterior uveitis2CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0012121Panuveitis2CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0007717Chronic irritative conjunctivitis2CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0025609Anterior blepharitis2CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0011859Punctate keratitis2CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0007813Nongranulomatous uveitis2CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0007879Allergic conjunctivitis2CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0012124Intermediate uveitis2CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0012121Panuveitis2FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0007717Chronic irritative conjunctivitis2FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0025609Anterior blepharitis2FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0011859Punctate keratitis2FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0012122Anterior uveitis2FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0007813Nongranulomatous uveitis2FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0007879Allergic conjunctivitis2FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0012124Intermediate uveitis2FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0012123Posterior uveitis2FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0001096Keratoconjunctivitis2FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0025610Posterior blepharitis2FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0012123Posterior uveitis2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0001096Keratoconjunctivitis2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0025610Posterior blepharitis2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0012122Anterior uveitis2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0012121Panuveitis2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0007717Chronic irritative conjunctivitis2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0025609Anterior blepharitis2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0011859Punctate keratitis2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0007813Nongranulomatous uveitis2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0007879Allergic conjunctivitis2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0012124Intermediate uveitis2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0012121Panuveitis2HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0007717Chronic irritative conjunctivitis2HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0025609Anterior blepharitis2HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0011859Punctate keratitis2HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0012122Anterior uveitis2HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0007879Allergic conjunctivitis2HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0007813Nongranulomatous uveitis2HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0012124Intermediate uveitis2HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0012123Posterior uveitis2HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0001096Keratoconjunctivitis2HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0025610Posterior blepharitis2HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0011859Punctate keratitis2HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0012122Anterior uveitis2HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0012121Panuveitis2HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0007717Chronic irritative conjunctivitis2HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0025609Anterior blepharitis2HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0007813Nongranulomatous uveitis2HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0007879Allergic conjunctivitis2HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0012124Intermediate uveitis2HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0012123Posterior uveitis2HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0001096Keratoconjunctivitis2HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0025610Posterior blepharitis2HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0007813Nongranulomatous uveitis2HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0007879Allergic conjunctivitis2HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0012124Intermediate uveitis2HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0025610Posterior blepharitis2HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0012123Posterior uveitis2HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0001096Keratoconjunctivitis2HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0025609Anterior blepharitis2HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0011859Punctate keratitis2HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0012122Anterior uveitis2HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0012121Panuveitis2HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0007717Chronic irritative conjunctivitis2HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0007813Nongranulomatous uveitis2IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0007879Allergic conjunctivitis2IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0012124Intermediate uveitis2IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0012123Posterior uveitis2IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0001096Keratoconjunctivitis2IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0025610Posterior blepharitis2IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0012121Panuveitis2IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0007717Chronic irritative conjunctivitis2IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0025609Anterior blepharitis2IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0011859Punctate keratitis2IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0012122Anterior uveitis2IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0012124Intermediate uveitis2MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0012123Posterior uveitis2MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0001096Keratoconjunctivitis2MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0025610Posterior blepharitis2MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0012122Anterior uveitis2MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0012121Panuveitis2MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0007717Chronic irritative conjunctivitis2MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0025609Anterior blepharitis2MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0011859Punctate keratitis2MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0007813Nongranulomatous uveitis2MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0007879Allergic conjunctivitis2MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0012124Intermediate uveitis2PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0025610Posterior blepharitis2PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0012123Posterior uveitis2PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0001096Keratoconjunctivitis2PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0025609Anterior blepharitis2PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0011859Punctate keratitis2PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0012122Anterior uveitis2PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0012121Panuveitis2PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0007717Chronic irritative conjunctivitis2PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0007813Nongranulomatous uveitis2PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0007879Allergic conjunctivitis2PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0001096Keratoconjunctivitis2PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0025610Posterior blepharitis2PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0012123Posterior uveitis2PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0007717Chronic irritative conjunctivitis2PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0025609Anterior blepharitis2PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0011859Punctate keratitis2PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0012122Anterior uveitis2PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0012121Panuveitis2PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0007879Allergic conjunctivitis2PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0007813Nongranulomatous uveitis2PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0012124Intermediate uveitis2PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0001097Keratoconjunctivitis sicca3ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0500046Seborrhoeic blepharitis3ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0001094Iridocyclitis3ALDH3A2 CL E G H224816ORPHA1538403609523
HP:0100533HP:0001094Iridocyclitis3CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0001097Keratoconjunctivitis sicca3CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0500046Seborrhoeic blepharitis3CTLA4 CL E G H1493900ORPHA11902505123890
HP:0100533HP:0001097Keratoconjunctivitis sicca3FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0500046Seborrhoeic blepharitis3FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0001094Iridocyclitis3FGFR3 CL E G H226193262ORPHA17463690134934
HP:0100533HP:0001094Iridocyclitis3HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0001097Keratoconjunctivitis sicca3HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0500046Seborrhoeic blepharitis3HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1644931142800
HP:0100533HP:0001097Keratoconjunctivitis sicca3HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0500046Seborrhoeic blepharitis3HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0001094Iridocyclitis3HLA-B CL E G H31063287ORPHA1184932142830
HP:0100533HP:0500046Seborrhoeic blepharitis3HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0001097Keratoconjunctivitis sicca3HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0001094Iridocyclitis3HLA-DPA1 CL E G H3113900ORPHA1154938142880
HP:0100533HP:0500046Seborrhoeic blepharitis3HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0001097Keratoconjunctivitis sicca3HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0001094Iridocyclitis3HLA-DPB1 CL E G H3115900ORPHA1154940142858
HP:0100533HP:0001097Keratoconjunctivitis sicca3IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0500046Seborrhoeic blepharitis3IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0001094Iridocyclitis3IL12B CL E G H35933287ORPHA11735970161561
HP:0100533HP:0001097Keratoconjunctivitis sicca3MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0500046Seborrhoeic blepharitis3MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0001094Iridocyclitis3MLX CL E G H69453287ORPHA12011645602976
HP:0100533HP:0001097Keratoconjunctivitis sicca3PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0500046Seborrhoeic blepharitis3PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0001094Iridocyclitis3PRTN3 CL E G H5657900ORPHA1479495177020
HP:0100533HP:0001094Iridocyclitis3PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0001097Keratoconjunctivitis sicca3PTPN22 CL E G H26191900ORPHA1349652600716
HP:0100533HP:0500046Seborrhoeic blepharitis3PTPN22 CL E G H26191900ORPHA1349652600716
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100533HP:0100533Inflammatory abnormality of the eye0BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0100533Inflammatory abnormality of the eye0CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0100533Inflammatory abnormality of the eye0CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0100533Inflammatory abnormality of the eye0CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0100533Inflammatory abnormality of the eye0CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0100533Inflammatory abnormality of the eye0GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0100533Inflammatory abnormality of the eye0GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0100533Inflammatory abnormality of the eye0NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0100533Inflammatory abnormality of the eye0NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0100533Inflammatory abnormality of the eye0NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0100533Inflammatory abnormality of the eye0SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0100534Episcleritis1BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0000554Uveitis1BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0000498Blepharitis1BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0000491Keratitis1BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0100532Scleritis1BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0000509Conjunctivitis1BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0000491Keratitis1CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0000554Uveitis1CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0000498Blepharitis1CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0100532Scleritis1CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0000509Conjunctivitis1CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0100534Episcleritis1CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0000491Keratitis1CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0000554Uveitis1CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0000498Blepharitis1CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0100532Scleritis1CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0000509Conjunctivitis1CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0100534Episcleritis1CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0100532Scleritis1CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0000509Conjunctivitis1CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0100534Episcleritis1CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0000498Blepharitis1CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0000491Keratitis1CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0000554Uveitis1CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0000491Keratitis1CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0000554Uveitis1CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0000498Blepharitis1CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0100532Scleritis1CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0000509Conjunctivitis1CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0100534Episcleritis1CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0000491Keratitis1GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0000554Uveitis1GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0000498Blepharitis1GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0100532Scleritis1GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0000509Conjunctivitis1GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0100534Episcleritis1GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0100532Scleritis1GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0000509Conjunctivitis1GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0100534Episcleritis1GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0000498Blepharitis1GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0000491Keratitis1GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0000554Uveitis1GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0100534Episcleritis1NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0000498Blepharitis1NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0000491Keratitis1NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0000554Uveitis1NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0100532Scleritis1NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0000509Conjunctivitis1NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0000498Blepharitis1NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0000491Keratitis1NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0000554Uveitis1NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0000509Conjunctivitis1NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0100532Scleritis1NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0100534Episcleritis1NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0000498Blepharitis1NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0000491Keratitis1NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0000554Uveitis1NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0000509Conjunctivitis1NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0100532Scleritis1NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0100534Episcleritis1NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0100534Episcleritis1SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0000498Blepharitis1SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0000491Keratitis1SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0000554Uveitis1SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0100532Scleritis1SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0000509Conjunctivitis1SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0012123Posterior uveitis2BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0001096Keratoconjunctivitis2BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0025610Posterior blepharitis2BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0011859Punctate keratitis2BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0012122Anterior uveitis2BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0012121Panuveitis2BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0007717Chronic irritative conjunctivitis2BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0025609Anterior blepharitis2BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0007813Nongranulomatous uveitis2BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0007879Allergic conjunctivitis2BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0012124Intermediate uveitis2BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0011859Punctate keratitis2CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0012122Anterior uveitis2CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0012121Panuveitis2CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0007717Chronic irritative conjunctivitis2CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0025609Anterior blepharitis2CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0007813Nongranulomatous uveitis2CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0007879Allergic conjunctivitis2CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0012124Intermediate uveitis2CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0012123Posterior uveitis2CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0001096Keratoconjunctivitis2CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0025610Posterior blepharitis2CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0007813Nongranulomatous uveitis2CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0007879Allergic conjunctivitis2CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0012124Intermediate uveitis2CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0025610Posterior blepharitis2CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0012123Posterior uveitis2CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0001096Keratoconjunctivitis2CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0011859Punctate keratitis2CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0012122Anterior uveitis2CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0012121Panuveitis2CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0007717Chronic irritative conjunctivitis2CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0025609Anterior blepharitis2CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0012124Intermediate uveitis2CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0025610Posterior blepharitis2CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0012123Posterior uveitis2CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0001096Keratoconjunctivitis2CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0025609Anterior blepharitis2CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0011859Punctate keratitis2CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0012122Anterior uveitis2CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0012121Panuveitis2CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0007717Chronic irritative conjunctivitis2CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0007813Nongranulomatous uveitis2CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0007879Allergic conjunctivitis2CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0011859Punctate keratitis2CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0012122Anterior uveitis2CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0012121Panuveitis2CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0007717Chronic irritative conjunctivitis2CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0025609Anterior blepharitis2CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0007813Nongranulomatous uveitis2CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0007879Allergic conjunctivitis2CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0012124Intermediate uveitis2CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0012123Posterior uveitis2CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0001096Keratoconjunctivitis2CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0025610Posterior blepharitis2CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0007813Nongranulomatous uveitis2GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0007879Allergic conjunctivitis2GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0012124Intermediate uveitis2GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0025610Posterior blepharitis2GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0012123Posterior uveitis2GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0001096Keratoconjunctivitis2GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0025609Anterior blepharitis2GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0011859Punctate keratitis2GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0012122Anterior uveitis2GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0012121Panuveitis2GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0007717Chronic irritative conjunctivitis2GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0012124Intermediate uveitis2GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0001096Keratoconjunctivitis2GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0025610Posterior blepharitis2GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0012123Posterior uveitis2GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0025609Anterior blepharitis2GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0011859Punctate keratitis2GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0012122Anterior uveitis2GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0012121Panuveitis2GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0007717Chronic irritative conjunctivitis2GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0007813Nongranulomatous uveitis2GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0007879Allergic conjunctivitis2GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0001096Keratoconjunctivitis2NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0025610Posterior blepharitis2NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0012123Posterior uveitis2NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0007717Chronic irritative conjunctivitis2NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0025609Anterior blepharitis2NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0011859Punctate keratitis2NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0012122Anterior uveitis2NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0012121Panuveitis2NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0007813Nongranulomatous uveitis2NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0007879Allergic conjunctivitis2NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0012124Intermediate uveitis2NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0012121Panuveitis2NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0007717Chronic irritative conjunctivitis2NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0025609Anterior blepharitis2NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0011859Punctate keratitis2NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0012122Anterior uveitis2NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0007879Allergic conjunctivitis2NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0007813Nongranulomatous uveitis2NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0012124Intermediate uveitis2NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0012123Posterior uveitis2NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0001096Keratoconjunctivitis2NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0025610Posterior blepharitis2NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0007813Nongranulomatous uveitis2NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0007879Allergic conjunctivitis2NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0012124Intermediate uveitis2NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0012123Posterior uveitis2NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0001096Keratoconjunctivitis2NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0025610Posterior blepharitis2NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0012121Panuveitis2NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0007717Chronic irritative conjunctivitis2NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0025609Anterior blepharitis2NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0011859Punctate keratitis2NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0012122Anterior uveitis2NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0012123Posterior uveitis2SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0001096Keratoconjunctivitis2SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0025610Posterior blepharitis2SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0007717Chronic irritative conjunctivitis2SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0025609Anterior blepharitis2SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0011859Punctate keratitis2SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0012122Anterior uveitis2SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0012121Panuveitis2SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0007879Allergic conjunctivitis2SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0007813Nongranulomatous uveitis2SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0012124Intermediate uveitis2SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0001094Iridocyclitis3BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0001097Keratoconjunctivitis sicca3BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0500046Seborrhoeic blepharitis3BAP1 CL E G H831439044ORPHA02132950603089
HP:0100533HP:0001097Keratoconjunctivitis sicca3CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0500046Seborrhoeic blepharitis3CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0001094Iridocyclitis3CYBA CL E G H1535379ORPHA03922577608508
HP:0100533HP:0500046Seborrhoeic blepharitis3CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0001097Keratoconjunctivitis sicca3CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0001094Iridocyclitis3CYBB CL E G H1536379ORPHA06392578300481
HP:0100533HP:0001097Keratoconjunctivitis sicca3CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0500046Seborrhoeic blepharitis3CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0001094Iridocyclitis3CYBC1 CL E G H79415379ORPHA0110286720
HP:0100533HP:0500046Seborrhoeic blepharitis3CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0001097Keratoconjunctivitis sicca3CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0001094Iridocyclitis3CYSLTR2 CL E G H5710539044ORPHA07018274605666
HP:0100533HP:0500046Seborrhoeic blepharitis3GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0001097Keratoconjunctivitis sicca3GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0001094Iridocyclitis3GNA11 CL E G H276739044ORPHA02064379139313
HP:0100533HP:0001097Keratoconjunctivitis sicca3GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0500046Seborrhoeic blepharitis3GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0001094Iridocyclitis3GNAQ CL E G H277639044ORPHA0844390600998
HP:0100533HP:0001094Iridocyclitis3NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0001097Keratoconjunctivitis sicca3NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0500046Seborrhoeic blepharitis3NCF1 CL E G H653361379ORPHA0997660608512
HP:0100533HP:0001097Keratoconjunctivitis sicca3NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0500046Seborrhoeic blepharitis3NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0001094Iridocyclitis3NCF2 CL E G H4688379ORPHA03777661608515
HP:0100533HP:0001097Keratoconjunctivitis sicca3NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0500046Seborrhoeic blepharitis3NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0001094Iridocyclitis3NCF4 CL E G H4689379ORPHA02797662601488
HP:0100533HP:0001094Iridocyclitis3SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0001097Keratoconjunctivitis sicca3SF3B1 CL E G H2345139044ORPHA07610768605590
HP:0100533HP:0500046Seborrhoeic blepharitis3SF3B1 CL E G H2345139044ORPHA07610768605590


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 79409 79408 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 1451 47045 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 August 2021 release.