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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100533HP:0100533Inflammatory abnormality of the eye0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythroderma130
HP:0100533HP:0100533Inflammatory abnormality of the eye0ADAM17 CL E G H6868195OMIM:614328INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD12
HP:0100533HP:0100533Inflammatory abnormality of the eye0ADAM17 CL E G H6868195ORPHA:294023Neonatal inflammatory skin and bowel disease2
HP:0100533HP:0100533Inflammatory abnormality of the eye0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0100533HP:0100533Inflammatory abnormality of the eye0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0100533HP:0100533Inflammatory abnormality of the eye0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040282 - Frequent87
HP:0100533HP:0100533Inflammatory abnormality of the eye0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythroderma75
HP:0100533HP:0100533Inflammatory abnormality of the eye0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythroderma63
HP:0100533HP:0100533Inflammatory abnormality of the eye0ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0100533HP:0100533Inflammatory abnormality of the eye0ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0100533HP:0100533Inflammatory abnormality of the eye0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0100533HP:0100533Inflammatory abnormality of the eye0APOE CL E G H348613ORPHA:158029Sea-blue histiocytosis39
HP:0100533HP:0100533Inflammatory abnormality of the eye0ARPC1B CL E G H10095704OMIM:617718Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0100533HP:0100533Inflammatory abnormality of the eye0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive4
HP:0100533HP:0100533Inflammatory abnormality of the eye0BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040284 - Very rare184
HP:0100533HP:0100533Inflammatory abnormality of the eye0BCL10 CL E G H8915989ORPHA:52417MALT lymphoma18
HP:0100533HP:0100533Inflammatory abnormality of the eye0BIRC3 CL E G H330591ORPHA:52417MALT lymphoma
HP:0100533HP:0100533Inflammatory abnormality of the eye0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0100533HP:0100533Inflammatory abnormality of the eye0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemia4
HP:0100533HP:0100533Inflammatory abnormality of the eye0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0100533HP:0100533Inflammatory abnormality of the eye0BTD CL E G H6861122ORPHA:79241Biotinidase deficiency223
HP:0100533HP:0100533Inflammatory abnormality of the eye0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset223
HP:0100533HP:0100533Inflammatory abnormality of the eye0BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked109
HP:0100533HP:0100533Inflammatory abnormality of the eye0BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia109
HP:0100533HP:0100533Inflammatory abnormality of the eye0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemia109
HP:0100533HP:0100533Inflammatory abnormality of the eye0BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0100533HP:0100533Inflammatory abnormality of the eye0BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 21
HP:0100533HP:0100533Inflammatory abnormality of the eye0C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0100533HP:0100533Inflammatory abnormality of the eye0CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory6
HP:0100533HP:0100533Inflammatory abnormality of the eye0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0100533HP:0100533Inflammatory abnormality of the eye0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndrome87
HP:0100533HP:0100533Inflammatory abnormality of the eye0CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0100533HP:0100533Inflammatory abnormality of the eye0CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 238
HP:0100533HP:0100533Inflammatory abnormality of the eye0CD19 CL E G H9301633OMIM:613493IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID338
HP:0100533HP:0100533Inflammatory abnormality of the eye0CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritis8
HP:0100533HP:0100533Inflammatory abnormality of the eye0CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis8
HP:0100533HP:0100533Inflammatory abnormality of the eye0CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0100533HP:0100533Inflammatory abnormality of the eye0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemia9
HP:0100533HP:0100533Inflammatory abnormality of the eye0CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive6
HP:0100533HP:0100533Inflammatory abnormality of the eye0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemia6
HP:0100533HP:0100533Inflammatory abnormality of the eye0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythroderma5
HP:0100533HP:0100533Inflammatory abnormality of the eye0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disability6
HP:0100533HP:0100533Inflammatory abnormality of the eye0COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophy129
HP:0100533HP:0100533Inflammatory abnormality of the eye0COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis678
HP:0100533HP:0100533Inflammatory abnormality of the eye0COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosis18
HP:0100533HP:0100533Inflammatory abnormality of the eye0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive263
HP:0100533HP:0100533Inflammatory abnormality of the eye0CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 210
HP:0100533HP:0100533Inflammatory abnormality of the eye0CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 124
HP:0100533HP:0100533Inflammatory abnormality of the eye0CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type
HP:0100533HP:0100533Inflammatory abnormality of the eye0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenita160
HP:0100533HP:0100533Inflammatory abnormality of the eye0CTLA4 CL E G H14932505ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent10
HP:0100533HP:0100533Inflammatory abnormality of the eye0CYBA CL E G H15352577ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional27
HP:0100533HP:0100533Inflammatory abnormality of the eye0CYBB CL E G H15362578ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional111
HP:0100533HP:0100533Inflammatory abnormality of the eye0CYBC1 CL E G H7941528672ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional
HP:0100533HP:0100533Inflammatory abnormality of the eye0CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040284 - Very rare1
HP:0100533HP:0100533Inflammatory abnormality of the eye0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosum30
HP:0100533HP:0100533Inflammatory abnormality of the eye0DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E30
HP:0100533HP:0100533Inflammatory abnormality of the eye0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenita65
HP:0100533HP:0100533Inflammatory abnormality of the eye0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0100533HP:0100533Inflammatory abnormality of the eye0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040282 - Frequent3
HP:0100533HP:0100533Inflammatory abnormality of the eye0EGFR CL E G H19563236ORPHA:294023Neonatal inflammatory skin and bowel disease257
HP:0100533HP:0100533Inflammatory abnormality of the eye0EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathy170
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosum106
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D106
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosum54
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosum158
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosum83
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0100533HP:0100533Inflammatory abnormality of the eye0ERF CL E G H20773444ORPHA:207Crouzon disease12
HP:0100533HP:0100533Inflammatory abnormality of the eye0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndrome59
HP:0100533HP:0100533Inflammatory abnormality of the eye0FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0100533HP:0100533Inflammatory abnormality of the eye0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndrome37
HP:0100533HP:0100533Inflammatory abnormality of the eye0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0100533HP:0100533Inflammatory abnormality of the eye0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0100533HP:0100533Inflammatory abnormality of the eye0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0100533HP:0100533Inflammatory abnormality of the eye0FGFR2 CL E G H22633689ORPHA:207Crouzon disease175
HP:0100533HP:0100533Inflammatory abnormality of the eye0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome175
HP:0100533HP:0100533Inflammatory abnormality of the eye0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0100533HP:0100533Inflammatory abnormality of the eye0FGFR3 CL E G H22613690ORPHA:93262Crouzon syndrome-acanthosis nigricans syndromeHP:0040282 - Frequent145
HP:0100533HP:0100533Inflammatory abnormality of the eye0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0100533HP:0100533Inflammatory abnormality of the eye0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome20
HP:0100533HP:0100533Inflammatory abnormality of the eye0FOXC2 CL E G H23033801ORPHA:33001Lymphedema-distichiasis syndrome20
HP:0100533HP:0100533Inflammatory abnormality of the eye0FOXP1 CL E G H270863823ORPHA:52417MALT lymphoma184
HP:0100533HP:0100533Inflammatory abnormality of the eye0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0100533HP:0100533Inflammatory abnormality of the eye0GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0100533HP:0100533Inflammatory abnormality of the eye0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0100533HP:0100533Inflammatory abnormality of the eye0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100533HP:0100533Inflammatory abnormality of the eye0GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0100533HP:0100533Inflammatory abnormality of the eye0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100533HP:0100533Inflammatory abnormality of the eye0GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040284 - Very rare16
HP:0100533HP:0100533Inflammatory abnormality of the eye0GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040284 - Very rare7
HP:0100533HP:0100533Inflammatory abnormality of the eye0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0100533HP:0100533Inflammatory abnormality of the eye0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0100533HP:0100533Inflammatory abnormality of the eye0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0100533HP:0100533Inflammatory abnormality of the eye0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitis2
HP:0100533HP:0100533Inflammatory abnormality of the eye0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0100533HP:0100533Inflammatory abnormality of the eye0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0100533HP:0100533Inflammatory abnormality of the eye0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0100533HP:0100533Inflammatory abnormality of the eye0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-A CL E G H31054931ORPHA:179Birdshot chorioretinopathyHP:0040282 - Frequent4
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-B CL E G H31064932ORPHA:29207Reactive arthritis4
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-B CL E G H31064932OMIM:106300Spondyloarthropathy, susceptibility to, 14
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndrome4
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-B CL E G H31064932ORPHA:3287Takayasu arteritisHP:0040282 - Frequent4
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-DPA1 CL E G H31134938ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-DPB1 CL E G H31154940ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent1
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritis2
HP:0100533HP:0100533Inflammatory abnormality of the eye0HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiency148
HP:0100533HP:0100533Inflammatory abnormality of the eye0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0100533HP:0100533Inflammatory abnormality of the eye0ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 132
HP:0100533HP:0100533Inflammatory abnormality of the eye0ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 232
HP:0100533HP:0100533Inflammatory abnormality of the eye0IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0100533HP:0100533Inflammatory abnormality of the eye0IGH CL E G H34925477ORPHA:52417MALT lymphoma7
HP:0100533HP:0100533Inflammatory abnormality of the eye0IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive7
HP:0100533HP:0100533Inflammatory abnormality of the eye0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemia7
HP:0100533HP:0100533Inflammatory abnormality of the eye0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemia3
HP:0100533HP:0100533Inflammatory abnormality of the eye0IGSF3 CL E G H33215950OMIM:149700Lacrimal duct defect3
HP:0100533HP:0100533Inflammatory abnormality of the eye0IKBKG CL E G H85175961OMIM:30108152
HP:0100533HP:0100533Inflammatory abnormality of the eye0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0100533HP:0100533Inflammatory abnormality of the eye0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0100533HP:0100533Inflammatory abnormality of the eye0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndrome8
HP:0100533HP:0100533Inflammatory abnormality of the eye0IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0100533HP:0100533Inflammatory abnormality of the eye0IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0100533HP:0100533Inflammatory abnormality of the eye0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0100533HP:0100533Inflammatory abnormality of the eye0IL12B CL E G H35935970ORPHA:3287Takayasu arteritisHP:0040282 - Frequent31
HP:0100533HP:0100533Inflammatory abnormality of the eye0IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0100533HP:0100533Inflammatory abnormality of the eye0IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritis65
HP:0100533HP:0100533Inflammatory abnormality of the eye0IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis65
HP:0100533HP:0100533Inflammatory abnormality of the eye0IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0100533HP:0100533Inflammatory abnormality of the eye0IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0100533HP:0100533Inflammatory abnormality of the eye0IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritis2
HP:0100533HP:0100533Inflammatory abnormality of the eye0IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0100533HP:0100533Inflammatory abnormality of the eye0IRF4 CL E G H36626119ORPHA:3452Whipple disease1
HP:0100533HP:0100533Inflammatory abnormality of the eye0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0100533HP:0100533Inflammatory abnormality of the eye0KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0100533HP:0100533Inflammatory abnormality of the eye0LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritis1
HP:0100533HP:0100533Inflammatory abnormality of the eye0LBR CL E G H39306518ORPHA:779Reynolds syndrome70
HP:0100533HP:0100533Inflammatory abnormality of the eye0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0100533HP:0100533Inflammatory abnormality of the eye0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemia3
HP:0100533HP:0100533Inflammatory abnormality of the eye0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0100533HP:0100533Inflammatory abnormality of the eye0MALT1 CL E G H108926819ORPHA:52417MALT lymphoma6
HP:0100533HP:0100533Inflammatory abnormality of the eye0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome22
HP:0100533HP:0100533Inflammatory abnormality of the eye0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0100533HP:0100533Inflammatory abnormality of the eye0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0100533HP:0100533Inflammatory abnormality of the eye0MBTPS2 CL E G H5136015455OMIM:300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked22
HP:0100533HP:0100533Inflammatory abnormality of the eye0MEFV CL E G H42106998ORPHA:117Behçet disease281
HP:0100533HP:0100533Inflammatory abnormality of the eye0MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritis1
HP:0100533HP:0100533Inflammatory abnormality of the eye0MLX CL E G H694511645ORPHA:3287Takayasu arteritisHP:0040282 - Frequent
HP:0100533HP:0100533Inflammatory abnormality of the eye0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive6
HP:0100533HP:0100533Inflammatory abnormality of the eye0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0100533HP:0100533Inflammatory abnormality of the eye0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0100533HP:0100533Inflammatory abnormality of the eye0MSMO1 CL E G H630710545OMIM:616834Microcephaly, congenital cataract, and psoriasiform dermatitis3
HP:0100533HP:0100533Inflammatory abnormality of the eye0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitis1
HP:0100533HP:0100533Inflammatory abnormality of the eye0MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0100533HP:0100533Inflammatory abnormality of the eye0NCF1 CL E G H6533617660ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional13
HP:0100533HP:0100533Inflammatory abnormality of the eye0NCF2 CL E G H46887661ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional67
HP:0100533HP:0100533Inflammatory abnormality of the eye0NCF4 CL E G H46897662ORPHA:379Chronic granulomatous diseaseHP:0040283 - Occasional37
HP:0100533HP:0100533Inflammatory abnormality of the eye0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenita27
HP:0100533HP:0100533Inflammatory abnormality of the eye0NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythroderma60
HP:0100533HP:0100533Inflammatory abnormality of the eye0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0100533HP:0100533Inflammatory abnormality of the eye0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0100533HP:0100533Inflammatory abnormality of the eye0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040281 - Very frequent217
HP:0100533HP:0100533Inflammatory abnormality of the eye0NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0100533HP:0100533Inflammatory abnormality of the eye0NLRP3 CL E G H11454816400OMIM:617772Deafness, autosomal dominant 34, with or without inflammation217
HP:0100533HP:0100533Inflammatory abnormality of the eye0NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0100533HP:0100533Inflammatory abnormality of the eye0NLRP3 CL E G H11454816400ORPHA:47045Familial cold urticaria217
HP:0100533HP:0100533Inflammatory abnormality of the eye0NLRP3 CL E G H11454816400OMIM:148200Keratoendotheliitis fugax hereditaria217
HP:0100533HP:0100533Inflammatory abnormality of the eye0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndrome217
HP:0100533HP:0100533Inflammatory abnormality of the eye0NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0100533HP:0100533Inflammatory abnormality of the eye0NOD2 CL E G H641275331OMIM:186580Blau syndrome187
HP:0100533HP:0100533Inflammatory abnormality of the eye0NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0100533HP:0100533Inflammatory abnormality of the eye0NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0100533HP:0100533Inflammatory abnormality of the eye0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenita17
HP:0100533HP:0100533Inflammatory abnormality of the eye0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenita12
HP:0100533HP:0100533Inflammatory abnormality of the eye0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0100533HP:0100533Inflammatory abnormality of the eye0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenita26
HP:0100533HP:0100533Inflammatory abnormality of the eye0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0100533HP:0100533Inflammatory abnormality of the eye0PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitis194
HP:0100533HP:0100533Inflammatory abnormality of the eye0PAX6 CL E G H50808620OMIM:148190Keratitis, hereditary194
HP:0100533HP:0100533Inflammatory abnormality of the eye0PERCC1 CL E G H10537104552293ORPHA:92050Congenital tufting enteropathy
HP:0100533HP:0100533Inflammatory abnormality of the eye0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndrome37
HP:0100533HP:0100533Inflammatory abnormality of the eye0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemia43
HP:0100533HP:0100533Inflammatory abnormality of the eye0PLCD1 CL E G H53339060ORPHA:2387Leukonychia totalis5
HP:0100533HP:0100533Inflammatory abnormality of the eye0PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy759
HP:0100533HP:0100533Inflammatory abnormality of the eye0PLG CL E G H53409071OMIM:217090Plasminogen deficiency, type iligneous conjunctivitis, included11
HP:0100533HP:0100533Inflammatory abnormality of the eye0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0100533HP:0100533Inflammatory abnormality of the eye0PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythroderma47
HP:0100533HP:0100533Inflammatory abnormality of the eye0POLH CL E G H54299181ORPHA:90342Xeroderma pigmentosum variant155
HP:0100533HP:0100533Inflammatory abnormality of the eye0POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type155
HP:0100533HP:0100533Inflammatory abnormality of the eye0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndrome10
HP:0100533HP:0100533Inflammatory abnormality of the eye0PRTN3 CL E G H56579495ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent
HP:0100533HP:0100533Inflammatory abnormality of the eye0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0100533HP:0100533Inflammatory abnormality of the eye0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0100533HP:0100533Inflammatory abnormality of the eye0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0100533HP:0100533Inflammatory abnormality of the eye0PTPN2 CL E G H57719650ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0100533HP:0100533Inflammatory abnormality of the eye0PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0100533HP:0100533Inflammatory abnormality of the eye0PTPN22 CL E G H261919652ORPHA:900Granulomatosis with polyangiitisHP:0040282 - Frequent3
HP:0100533HP:0100533Inflammatory abnormality of the eye0PTPN22 CL E G H261919652ORPHA:85410Oligoarticular juvenile idiopathic arthritis3
HP:0100533HP:0100533Inflammatory abnormality of the eye0PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis3
HP:0100533HP:0100533Inflammatory abnormality of the eye0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0100533HP:0100533Inflammatory abnormality of the eye0RAG1 CL E G H58969831OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive127
HP:0100533HP:0100533Inflammatory abnormality of the eye0RAG2 CL E G H58979832OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive50
HP:0100533HP:0100533Inflammatory abnormality of the eye0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndrome
HP:0100533HP:0100533Inflammatory abnormality of the eye0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0100533HP:0100533Inflammatory abnormality of the eye0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0100533HP:0100533Inflammatory abnormality of the eye0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome5
HP:0100533HP:0100533Inflammatory abnormality of the eye0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenita77
HP:0100533HP:0100533Inflammatory abnormality of the eye0SAMD9 CL E G H548091348OMIM:610455Tumoral calcinosis, normophosphatemic, familial8
HP:0100533HP:0100533Inflammatory abnormality of the eye0SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary318
HP:0100533HP:0100533Inflammatory abnormality of the eye0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitis
HP:0100533HP:0100533Inflammatory abnormality of the eye0SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040284 - Very rare19
HP:0100533HP:0100533Inflammatory abnormality of the eye0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0100533HP:0100533Inflammatory abnormality of the eye0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type II71
HP:0100533HP:0100533Inflammatory abnormality of the eye0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathica55
HP:0100533HP:0100533Inflammatory abnormality of the eye0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0100533HP:0100533Inflammatory abnormality of the eye0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0100533HP:0100533Inflammatory abnormality of the eye0SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0100533HP:0100533Inflammatory abnormality of the eye0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary1
HP:0100533HP:0100533Inflammatory abnormality of the eye0ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 114
HP:0100533HP:0100533Inflammatory abnormality of the eye0STAT4 CL E G H677511365ORPHA:117Behçet disease2
HP:0100533HP:0100533Inflammatory abnormality of the eye0STAT4 CL E G H677511365ORPHA:85410Oligoarticular juvenile idiopathic arthritis2
HP:0100533HP:0100533Inflammatory abnormality of the eye0STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis2
HP:0100533HP:0100533Inflammatory abnormality of the eye0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0100533HP:0100533Inflammatory abnormality of the eye0STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0100533HP:0100533Inflammatory abnormality of the eye0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0100533HP:0100533Inflammatory abnormality of the eye0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0100533HP:0100533Inflammatory abnormality of the eye0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndrome55
HP:0100533HP:0100533Inflammatory abnormality of the eye0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemia2
HP:0100533HP:0100533Inflammatory abnormality of the eye0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitis241
HP:0100533HP:0100533Inflammatory abnormality of the eye0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenita48
HP:0100533HP:0100533Inflammatory abnormality of the eye0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenita238
HP:0100533HP:0100533Inflammatory abnormality of the eye0TFRC CL E G H703711763OMIM:616740Immunodeficiency 461
HP:0100533HP:0100533Inflammatory abnormality of the eye0TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythroderma98
HP:0100533HP:0100533Inflammatory abnormality of the eye0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenita60
HP:0100533HP:0100533Inflammatory abnormality of the eye0TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects4
HP:0100533HP:0100533Inflammatory abnormality of the eye0TKT CL E G H708611834ORPHA:488618Transketolase deficiency4
HP:0100533HP:0100533Inflammatory abnormality of the eye0TLR4 CL E G H709911850ORPHA:117Behçet disease3
HP:0100533HP:0100533Inflammatory abnormality of the eye0TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0100533HP:0100533Inflammatory abnormality of the eye0TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 232
HP:0100533HP:0100533Inflammatory abnormality of the eye0TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 212
HP:0100533HP:0100533Inflammatory abnormality of the eye0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0100533HP:0100533Inflammatory abnormality of the eye0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndrome131
HP:0100533HP:0100533Inflammatory abnormality of the eye0TP63 CL E G H862615979OMIM:103285Adult syndrome140
HP:0100533HP:0100533Inflammatory abnormality of the eye0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0100533HP:0100533Inflammatory abnormality of the eye0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0100533HP:0100533Inflammatory abnormality of the eye0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040282 - Frequent140
HP:0100533HP:0100533Inflammatory abnormality of the eye0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0100533HP:0100533Inflammatory abnormality of the eye0TRAF3IP2 CL E G H107581343OMIM:615527Candidiasis, familial, 84
HP:0100533HP:0100533Inflammatory abnormality of the eye0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenita1
HP:0100533HP:0100533Inflammatory abnormality of the eye0UBAC2 CL E G H33786720486ORPHA:117Behçet disease
HP:0100533HP:0100533Inflammatory abnormality of the eye0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0100533HP:0100533Inflammatory abnormality of the eye0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0100533HP:0100533Inflammatory abnormality of the eye0UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic41
HP:0100533HP:0100533Inflammatory abnormality of the eye0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenita8
HP:0100533HP:0100533Inflammatory abnormality of the eye0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0100533HP:0100533Inflammatory abnormality of the eye0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders1
HP:0100533HP:0100533Inflammatory abnormality of the eye0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndrome65
HP:0100533HP:0100533Inflammatory abnormality of the eye0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndrome6
HP:0100533HP:0100533Inflammatory abnormality of the eye0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenita40
HP:0100533HP:0100533Inflammatory abnormality of the eye0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosum34
HP:0100533HP:0100533Inflammatory abnormality of the eye0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A34
HP:0100533HP:0100533Inflammatory abnormality of the eye0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosum86
HP:0100533HP:0100533Inflammatory abnormality of the eye0XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C86
HP:0100533HP:0100533Inflammatory abnormality of the eye0ZEB1 CL E G H693511642OMIM:613270Corneal dystrophy, fuchs endothelial, 68
HP:0100533HP:0034427Purulent eye discharge1 CL E G H
HP:0100533HP:0000491Keratitis1ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent130
HP:0100533HP:0000498Blepharitis1ADAM17 CL E G H6868195OMIM:614328INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD12
HP:0100533HP:0000498Blepharitis1ADAM17 CL E G H6868195ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040282 - Frequent2
HP:0100533HP:0000491Keratitis1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0100533HP:0000509Conjunctivitis1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0100533HP:0000509Conjunctivitis1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0100533HP:0000554Uveitis1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0100533HP:0000491Keratitis1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0100533HP:0000491Keratitis1ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent75
HP:0100533HP:0000491Keratitis1ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent63
HP:0100533HP:0000554Uveitis1ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0100533HP:0000554Uveitis1ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0100533HP:0000509Conjunctivitis1AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0100533HP:0000498Blepharitis1APOE CL E G H348613ORPHA:158029Sea-blue histiocytosisHP:0040281 - Very frequent39
HP:0100533HP:0000498Blepharitis1ARPC1B CL E G H10095704OMIM:617718Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
HP:0100533HP:0000554Uveitis1ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessiveHP:0040283 - Occasional4
HP:0100533HP:0000554Uveitis1BCL10 CL E G H8915989ORPHA:52417MALT lymphoma18
HP:0100533HP:0000554Uveitis1BIRC3 CL E G H330591ORPHA:52417MALT lymphoma
HP:0100533HP:0000554Uveitis1BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040283 - Occasional314
HP:0100533HP:0000509Conjunctivitis1BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent4
HP:0100533HP:0000498Blepharitis1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0100533HP:0000509Conjunctivitis1BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040283 - Occasional223
HP:0100533HP:0000509Conjunctivitis1BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0100533HP:0000509Conjunctivitis1BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked.109
HP:0100533HP:0000509Conjunctivitis1BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia109
HP:0100533HP:0000509Conjunctivitis1BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0100533HP:0000491Keratitis1BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0100533HP:0000509Conjunctivitis1BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0100533HP:0000554Uveitis1BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040282 - Frequent1
HP:0100533HP:0000554Uveitis1BTNL2 CL E G H562441142OMIM:612387Sarcoidosis, susceptibility to, 2.1
HP:0100533HP:0000509Conjunctivitis1C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0100533HP:0000491Keratitis1C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0100533HP:0000554Uveitis1CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory.6
HP:0100533HP:0000509Conjunctivitis1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0100533HP:0000491Keratitis1CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0100533HP:0000554Uveitis1CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare87
HP:0100533HP:0000491Keratitis1CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0100533HP:0000509Conjunctivitis1CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0100533HP:0000509Conjunctivitis1CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 2.38
HP:0100533HP:0000509Conjunctivitis1CD19 CL E G H9301633OMIM:613493IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID338
HP:0100533HP:0000554Uveitis1CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent8
HP:0100533HP:0000554Uveitis1CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional8
HP:0100533HP:0000554Uveitis1CD27 CL E G H93911922OMIM:615122Lymphoproliferative syndrome 24
HP:0100533HP:0000509Conjunctivitis1CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent9
HP:0100533HP:0000509Conjunctivitis1CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive.6
HP:0100533HP:0000509Conjunctivitis1CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent6
HP:0100533HP:0000491Keratitis1CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent5
HP:0100533HP:0000491Keratitis1CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040282 - Frequent6
HP:0100533HP:0000491Keratitis1COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophy129
HP:0100533HP:0000509Conjunctivitis1COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophy129
HP:0100533HP:0000491Keratitis1COL4A5 CL E G H12872207ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional678
HP:0100533HP:0000491Keratitis1COL4A6 CL E G H12882208ORPHA:1018X-linked Alport syndrome-diffuse leiomyomatosisHP:0040283 - Occasional18
HP:0100533HP:0000509Conjunctivitis1COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0100533HP:0000509Conjunctivitis1CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 2.10
HP:0100533HP:0000491Keratitis1CRLF1 CL E G H92442364OMIM:272430Crisponi/cold-induced sweating syndrome 1.24
HP:0100533HP:0000498Blepharitis1CST6 CL E G H14742478OMIM:618535Ectodermal dysplasia 15, Hypohidrotic/hair type.
HP:0100533HP:0000498Blepharitis1CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0100533HP:0000491Keratitis1DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent30
HP:0100533HP:0000498Blepharitis1DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional30
HP:0100533HP:0000509Conjunctivitis1DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E.30
HP:0100533HP:0000491Keratitis1DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E.30
HP:0100533HP:0000498Blepharitis1DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0100533HP:0000509Conjunctivitis1DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0100533HP:0000498Blepharitis1DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0100533HP:0100534Episcleritis1DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040282 - Frequent3
HP:0100533HP:0000509Conjunctivitis1DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040282 - Frequent3
HP:0100533HP:0000554Uveitis1DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040282 - Frequent3
HP:0100533HP:0000498Blepharitis1EGFR CL E G H19563236ORPHA:294023Neonatal inflammatory skin and bowel diseaseHP:0040282 - Frequent257
HP:0100533HP:0000491Keratitis1EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathy170
HP:0100533HP:0000509Conjunctivitis1ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0100533HP:0000491Keratitis1ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0100533HP:0000509Conjunctivitis1ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0100533HP:0000554Uveitis1ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0100533HP:0000509Conjunctivitis1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0100533HP:0000491Keratitis1ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0100533HP:0000509Conjunctivitis1ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0100533HP:0000491Keratitis1ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0100533HP:0000491Keratitis1ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent106
HP:0100533HP:0000498Blepharitis1ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional106
HP:0100533HP:0000509Conjunctivitis1ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0100533HP:0000491Keratitis1ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0100533HP:0000491Keratitis1ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0100533HP:0000509Conjunctivitis1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0100533HP:0000498Blepharitis1ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional54
HP:0100533HP:0000491Keratitis1ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent54
HP:0100533HP:0000554Uveitis1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0100533HP:0000509Conjunctivitis1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0100533HP:0000491Keratitis1ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent158
HP:0100533HP:0000498Blepharitis1ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional158
HP:0100533HP:0000491Keratitis1ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent83
HP:0100533HP:0000498Blepharitis1ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional83
HP:0100533HP:0000554Uveitis1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0100533HP:0000509Conjunctivitis1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0100533HP:0000509Conjunctivitis1ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0100533HP:0000554Uveitis1ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0100533HP:0000509Conjunctivitis1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0100533HP:0000491Keratitis1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0100533HP:0000509Conjunctivitis1ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0100533HP:0000491Keratitis1ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0100533HP:0000554Uveitis1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0100533HP:0000509Conjunctivitis1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0100533HP:0000509Conjunctivitis1ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0100533HP:0000554Uveitis1ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0100533HP:0000491Keratitis1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0100533HP:0000509Conjunctivitis1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0100533HP:0000509Conjunctivitis1ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040282 - Frequent12
HP:0100533HP:0000554Uveitis1FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare59
HP:0100533HP:0000491Keratitis1FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0100533HP:0000509Conjunctivitis1FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0100533HP:0000554Uveitis1FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare37
HP:0100533HP:0000509Conjunctivitis1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0100533HP:0000491Keratitis1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0100533HP:0000509Conjunctivitis1FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040283 - Occasional136
HP:0100533HP:0000509Conjunctivitis1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0100533HP:0000491Keratitis1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0100533HP:0000509Conjunctivitis1FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040282 - Frequent175
HP:0100533HP:0000491Keratitis1FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome.175
HP:0100533HP:0000509Conjunctivitis1FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome.175
HP:0100533HP:0000491Keratitis1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0100533HP:0000509Conjunctivitis1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0100533HP:0000509Conjunctivitis1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0100533HP:0000491Keratitis1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0100533HP:0000509Conjunctivitis1FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome.20
HP:0100533HP:0000509Conjunctivitis1FOXC2 CL E G H23033801ORPHA:33001Lymphedema-distichiasis syndromeHP:0040281 - Very frequent20
HP:0100533HP:0000554Uveitis1FOXP1 CL E G H270863823ORPHA:52417MALT lymphoma184
HP:0100533HP:0000509Conjunctivitis1GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0100533HP:0000491Keratitis1GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0100533HP:0100532Scleritis1GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040284 - Very rare29
HP:0100533HP:0000498Blepharitis1GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0100533HP:0000491Keratitis1GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness199
HP:0100533HP:0000491Keratitis1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0100533HP:0000509Conjunctivitis1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0100533HP:0000509Conjunctivitis1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100533HP:0000498Blepharitis1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100533HP:0000491Keratitis1GJB2 CL E G H27064284ORPHA:477KID syndromeHP:0040281 - Very frequent199
HP:0100533HP:0000498Blepharitis1GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0100533HP:0000509Conjunctivitis1GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0100533HP:0000498Blepharitis1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100533HP:0000509Conjunctivitis1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100533HP:0000491Keratitis1GJB6 CL E G H108044288ORPHA:477KID syndromeHP:0040281 - Very frequent56
HP:0100533HP:0000509Conjunctivitis1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0100533HP:0000509Conjunctivitis1GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0100533HP:0000509Conjunctivitis1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0100533HP:0000554Uveitis1GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040284 - Very rare2
HP:0100533HP:0000491Keratitis1GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0100533HP:0000509Conjunctivitis1GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0100533HP:0000509Conjunctivitis1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0100533HP:0000491Keratitis1GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0100533HP:0000509Conjunctivitis1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0100533HP:0000491Keratitis1GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0100533HP:0000498Blepharitis1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0100533HP:0000509Conjunctivitis1HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0100533HP:0000491Keratitis1HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0100533HP:0000509Conjunctivitis1HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040281 - Very frequent4
HP:0100533HP:0000554Uveitis1HLA-B CL E G H31064932OMIM:106300Spondyloarthropathy, susceptibility to, 14
HP:0100533HP:0000509Conjunctivitis1HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional4
HP:0100533HP:0000554Uveitis1HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040282 - Frequent2
HP:0100533HP:0000509Conjunctivitis1HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0100533HP:0000491Keratitis1HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0100533HP:0000554Uveitis1HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1.2
HP:0100533HP:0000554Uveitis1HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritis2
HP:0100533HP:0000509Conjunctivitis1HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiency148
HP:0100533HP:0000491Keratitis1HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiency148
HP:0100533HP:0000491Keratitis1IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0100533HP:0000509Conjunctivitis1IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0100533HP:0000509Conjunctivitis1ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 1.32
HP:0100533HP:0000509Conjunctivitis1ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 2.32
HP:0100533HP:0000509Conjunctivitis1IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0100533HP:0000491Keratitis1IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0100533HP:0000554Uveitis1IGH CL E G H34925477ORPHA:52417MALT lymphoma7
HP:0100533HP:0000509Conjunctivitis1IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive.7
HP:0100533HP:0000509Conjunctivitis1IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent7
HP:0100533HP:0000509Conjunctivitis1IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0100533HP:0000509Conjunctivitis1IGSF3 CL E G H33215950OMIM:149700Lacrimal duct defectHP:0040283 - Occasional3
HP:0100533HP:0000554Uveitis1IKBKG CL E G H85175961OMIM:30108152
HP:0100533HP:0000491Keratitis1IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0100533HP:0000554Uveitis1IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0100533HP:0000554Uveitis1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0100533HP:0000491Keratitis1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0100533HP:0000509Conjunctivitis1IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional8
HP:0100533HP:0000509Conjunctivitis1IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0100533HP:0000491Keratitis1IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0100533HP:0000491Keratitis1IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0100533HP:0000509Conjunctivitis1IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0100533HP:0000509Conjunctivitis1IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0100533HP:0000491Keratitis1IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0100533HP:0000491Keratitis1IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0100533HP:0000509Conjunctivitis1IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0100533HP:0000554Uveitis1IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent65
HP:0100533HP:0000554Uveitis1IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional65
HP:0100533HP:0000554Uveitis1IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0100533HP:0000554Uveitis1IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0100533HP:0000554Uveitis1IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritis2
HP:0100533HP:0000491Keratitis1IL6ST CL E G H35726021OMIM:618523HYPER-IgE RECURRENT INFECTION SYNDROME 4B, AUTOSOMAL RECESSIVE; HIES4B
HP:0100533HP:0000554Uveitis1IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040282 - Frequent1
HP:0100533HP:0000509Conjunctivitis1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0100533HP:0000491Keratitis1KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0100533HP:0000509Conjunctivitis1KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0100533HP:0000554Uveitis1LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritis1
HP:0100533HP:0000509Conjunctivitis1LBR CL E G H39306518ORPHA:779Reynolds syndrome70
HP:0100533HP:0000491Keratitis1LBR CL E G H39306518ORPHA:779Reynolds syndrome70
HP:0100533HP:0000554Uveitis1LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0100533HP:0000509Conjunctivitis1LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0100533HP:0000509Conjunctivitis1LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0100533HP:0000509Conjunctivitis1MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0100533HP:0000491Keratitis1MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0100533HP:0000554Uveitis1MALT1 CL E G H108926819ORPHA:52417MALT lymphoma6
HP:0100533HP:0100534Episcleritis1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0100533HP:0000509Conjunctivitis1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0100533HP:0000554Uveitis1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0100533HP:0100532Scleritis1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0100533HP:0000498Blepharitis1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0100533HP:0000491Keratitis1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0100533HP:0000491Keratitis1MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0100533HP:0000491Keratitis1MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0100533HP:0000509Conjunctivitis1MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0100533HP:0000498Blepharitis1MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0100533HP:0000498Blepharitis1MBTPS2 CL E G H5136015455OMIM:300918Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked.22
HP:0100533HP:0000491Keratitis1MEFV CL E G H42106998ORPHA:117Behçet disease281
HP:0100533HP:0000509Conjunctivitis1MEFV CL E G H42106998ORPHA:117Behçet disease281
HP:0100533HP:0000554Uveitis1MIF CL E G H42827097ORPHA:85414Systemic-onset juvenile idiopathic arthritis1
HP:0100533HP:0000509Conjunctivitis1MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0100533HP:0000491Keratitis1MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0100533HP:0000509Conjunctivitis1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0100533HP:0000491Keratitis1MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0100533HP:0000509Conjunctivitis1MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0100533HP:0000498Blepharitis1MSMO1 CL E G H630710545OMIM:616834Microcephaly, congenital cataract, and psoriasiform dermatitis.3
HP:0100533HP:0000554Uveitis1MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040284 - Very rare1
HP:0100533HP:0000491Keratitis1MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0100533HP:0000509Conjunctivitis1MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0100533HP:0000498Blepharitis1NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0100533HP:0000491Keratitis1NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent60
HP:0100533HP:0000498Blepharitis1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0100533HP:0000509Conjunctivitis1NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0100533HP:0000491Keratitis1NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0100533HP:0000554Uveitis1NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0100533HP:0000554Uveitis1NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040281 - Very frequent217
HP:0100533HP:0000554Uveitis1NLRP3 CL E G H11454816400OMIM:607115CINCA SYNDROME; CINCA217
HP:0100533HP:0000509Conjunctivitis1NLRP3 CL E G H11454816400OMIM:617772Deafness, autosomal dominant 34, with or without inflammation.217
HP:0100533HP:0000509Conjunctivitis1NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0100533HP:0000554Uveitis1NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0100533HP:0000509Conjunctivitis1NLRP3 CL E G H11454816400ORPHA:47045Familial cold urticariaHP:0040283 - Occasional217
HP:0100533HP:0000491Keratitis1NLRP3 CL E G H11454816400OMIM:148200Keratoendotheliitis fugax hereditaria.217
HP:0100533HP:0000554Uveitis1NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040281 - Very frequent217
HP:0100533HP:0000509Conjunctivitis1NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0100533HP:0100534Episcleritis1NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040281 - Very frequent217
HP:0100533HP:0000509Conjunctivitis1NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040281 - Very frequent217
HP:0100533HP:0000554Uveitis1NOD2 CL E G H641275331OMIM:186580Blau syndrome187
HP:0100533HP:0000554Uveitis1NOD2 CL E G H641275331ORPHA:90340Blau syndrome187
HP:0100533HP:0000491Keratitis1NOD2 CL E G H641275331ORPHA:90340Blau syndromeHP:0040281 - Very frequent187
HP:0100533HP:0000509Conjunctivitis1NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0100533HP:0000491Keratitis1NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0100533HP:0000498Blepharitis1NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0100533HP:0000498Blepharitis1NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0100533HP:0000491Keratitis1NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0100533HP:0000498Blepharitis1PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0100533HP:0000509Conjunctivitis1PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0100533HP:0000491Keratitis1PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitisHP:0040280 - Obligate194
HP:0100533HP:0000491Keratitis1PAX6 CL E G H50808620OMIM:148190Keratitis, hereditary.194
HP:0100533HP:0000491Keratitis1PERCC1 CL E G H10537104552293ORPHA:92050Congenital tufting enteropathy
HP:0100533HP:0000498Blepharitis1PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0100533HP:0000509Conjunctivitis1PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent43
HP:0100533HP:0000498Blepharitis1PLCD1 CL E G H53339060ORPHA:2387Leukonychia totalisHP:0040282 - Frequent5
HP:0100533HP:0000491Keratitis1PLEC CL E G H53399069OMIM:226670Epidermolysis bullosa simplex with muscular dystrophy.759
HP:0100533HP:0000509Conjunctivitis1PLG CL E G H53409071OMIM:217090Plasminogen deficiency, type iligneous conjunctivitis, included.11
HP:0100533HP:0000498Blepharitis1PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040283 - Occasional
HP:0100533HP:0000491Keratitis1PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent47
HP:0100533HP:0000491Keratitis1POLH CL E G H54299181ORPHA:90342Xeroderma pigmentosum variantHP:0040282 - Frequent155
HP:0100533HP:0000491Keratitis1POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type.155
HP:0100533HP:0000509Conjunctivitis1POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type.155
HP:0100533HP:0000554Uveitis1PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare10
HP:0100533HP:0000509Conjunctivitis1PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0100533HP:0000509Conjunctivitis1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0100533HP:0100534Episcleritis1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0100533HP:0000509Conjunctivitis1PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0100533HP:0000554Uveitis1PTPN2 CL E G H57719650ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent
HP:0100533HP:0000554Uveitis1PTPN2 CL E G H57719650ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0100533HP:0000554Uveitis1PTPN22 CL E G H261919652ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent3
HP:0100533HP:0000554Uveitis1PTPN22 CL E G H261919652ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional3
HP:0100533HP:0000498Blepharitis1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0100533HP:0000509Conjunctivitis1RAG1 CL E G H58969831OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.127
HP:0100533HP:0000509Conjunctivitis1RAG2 CL E G H58979832OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.50
HP:0100533HP:0000554Uveitis1RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare
HP:0100533HP:0000498Blepharitis1REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040283 - Occasional3
HP:0100533HP:0000491Keratitis1RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0100533HP:0000509Conjunctivitis1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0100533HP:0000509Conjunctivitis1RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome5
HP:0100533HP:0000491Keratitis1RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome5
HP:0100533HP:0000498Blepharitis1RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0100533HP:0000509Conjunctivitis1SAMD9 CL E G H548091348OMIM:610455Tumoral calcinosis, normophosphatemic, familial.8
HP:0100533HP:0000509Conjunctivitis1SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary318
HP:0100533HP:0000491Keratitis1SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary318
HP:0100533HP:0000554Uveitis1SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040284 - Very rare
HP:0100533HP:0100534Episcleritis1SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0100533HP:0000491Keratitis1SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040283 - Occasional71
HP:0100533HP:0000498Blepharitis1SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040282 - Frequent55
HP:0100533HP:0000509Conjunctivitis1SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040282 - Frequent55
HP:0100533HP:0000498Blepharitis1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0100533HP:0000498Blepharitis1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0100533HP:0000509Conjunctivitis1SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0100533HP:0000491Keratitis1SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0100533HP:0000498Blepharitis1SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0100533HP:0000491Keratitis1SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary1
HP:0100533HP:0000509Conjunctivitis1SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary1
HP:0100533HP:0000498Blepharitis1ST14 CL E G H676811344OMIM:602400Ichthyosis, congenital, autosomal recessive 11.4
HP:0100533HP:0000491Keratitis1STAT4 CL E G H677511365ORPHA:117Behçet disease2
HP:0100533HP:0000509Conjunctivitis1STAT4 CL E G H677511365ORPHA:117Behçet disease2
HP:0100533HP:0000554Uveitis1STAT4 CL E G H677511365ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040282 - Frequent2
HP:0100533HP:0000554Uveitis1STAT4 CL E G H677511365ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0100533HP:0000554Uveitis1STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0100533HP:0000509Conjunctivitis1STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0100533HP:0000509Conjunctivitis1STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0100533HP:0000491Keratitis1TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0100533HP:0000509Conjunctivitis1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0100533HP:0000498Blepharitis1TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040283 - Occasional55
HP:0100533HP:0000509Conjunctivitis1TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent2
HP:0100533HP:0000554Uveitis1TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040284 - Very rare241
HP:0100533HP:0000498Blepharitis1TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional48
HP:0100533HP:0000498Blepharitis1TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional238
HP:0100533HP:0000509Conjunctivitis1TFRC CL E G H703711763OMIM:616740Immunodeficiency 461
HP:0100533HP:0000491Keratitis1TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent98
HP:0100533HP:0000498Blepharitis1TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional60
HP:0100533HP:0000554Uveitis1TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defectsHP:0040283 - Occasional4
HP:0100533HP:0000509Conjunctivitis1TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040283 - Occasional4
HP:0100533HP:0000554Uveitis1TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040282 - Frequent4
HP:0100533HP:0000509Conjunctivitis1TLR4 CL E G H709911850ORPHA:117Behçet disease3
HP:0100533HP:0000491Keratitis1TLR4 CL E G H709911850ORPHA:117Behçet disease3
HP:0100533HP:0000554Uveitis1TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0100533HP:0000509Conjunctivitis1TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 2.32
HP:0100533HP:0000509Conjunctivitis1TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 2.12
HP:0100533HP:0000509Conjunctivitis1TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0100533HP:0000509Conjunctivitis1TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040283 - Occasional131
HP:0100533HP:0000554Uveitis1TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040283 - Occasional131
HP:0100533HP:0000509Conjunctivitis1TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0100533HP:0000509Conjunctivitis1TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0100533HP:0000498Blepharitis1TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0100533HP:0000498Blepharitis1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0100533HP:0000491Keratitis1TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040282 - Frequent140
HP:0100533HP:0000498Blepharitis1TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040282 - Frequent140
HP:0100533HP:0000509Conjunctivitis1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0100533HP:0000498Blepharitis1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040283 - Occasional140
HP:0100533HP:0000498Blepharitis1TRAF3IP2 CL E G H107581343OMIM:615527Candidiasis, familial, 8.4
HP:0100533HP:0000498Blepharitis1TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional1
HP:0100533HP:0000491Keratitis1UBAC2 CL E G H33786720486ORPHA:117Behçet disease
HP:0100533HP:0000509Conjunctivitis1UBAC2 CL E G H33786720486ORPHA:117Behçet disease
HP:0100533HP:0100532Scleritis1UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040284 - Very rare31
HP:0100533HP:0000509Conjunctivitis1UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0100533HP:0000498Blepharitis1UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0100533HP:0000491Keratitis1UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0100533HP:0000491Keratitis1UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0100533HP:0000509Conjunctivitis1UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0100533HP:0100532Scleritis1UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040284 - Very rare41
HP:0100533HP:0000498Blepharitis1UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0100533HP:0000509Conjunctivitis1UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0100533HP:0000498Blepharitis1USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional8
HP:0100533HP:0000498Blepharitis1USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia.8
HP:0100533HP:0000509Conjunctivitis1USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia.8
HP:0100533HP:0000509Conjunctivitis1VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040283 - Occasional1
HP:0100533HP:0000491Keratitis1WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional65
HP:0100533HP:0000509Conjunctivitis1WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional65
HP:0100533HP:0000498Blepharitis1WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional65
HP:0100533HP:0000498Blepharitis1WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional6
HP:0100533HP:0000491Keratitis1WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional6
HP:0100533HP:0000509Conjunctivitis1WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional6
HP:0100533HP:0000498Blepharitis1WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional40
HP:0100533HP:0000498Blepharitis1XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional34
HP:0100533HP:0000491Keratitis1XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent34
HP:0100533HP:0000509Conjunctivitis1XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0100533HP:0000491Keratitis1XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0100533HP:0000491Keratitis1XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent86
HP:0100533HP:0000498Blepharitis1XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional86
HP:0100533HP:0000491Keratitis1XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86
HP:0100533HP:0000509Conjunctivitis1XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86
HP:0100533HP:0000491Keratitis1ZEB1 CL E G H693511642OMIM:613270Corneal dystrophy, fuchs endothelial, 68
HP:0100533HP:0025609Anterior blepharitis2 CL E G H
HP:0100533HP:0012124Intermediate uveitis2 CL E G H
HP:0100533HP:0007879Allergic conjunctivitis2 CL E G H
HP:0100533HP:0001096Keratoconjunctivitis2AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0100533HP:0001096Keratoconjunctivitis2AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0100533HP:0012122Anterior uveitis2AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0100533HP:0012122Anterior uveitis2ANKRD55 CL E G H7972225681ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0100533HP:0012123Posterior uveitis2BCL10 CL E G H8915989ORPHA:52417MALT lymphomaHP:0040283 - Occasional18
HP:0100533HP:0012123Posterior uveitis2BIRC3 CL E G H330591ORPHA:52417MALT lymphomaHP:0040283 - Occasional
HP:0100533HP:0001096Keratoconjunctivitis2BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0100533HP:0001096Keratoconjunctivitis2C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0100533HP:0001096Keratoconjunctivitis2CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0100533HP:0001096Keratoconjunctivitis2CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0100533HP:0012122Anterior uveitis2CD247 CL E G H9191677ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis8
HP:0100533HP:0001096Keratoconjunctivitis2COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophy129
HP:0100533HP:0011859Punctate keratitis2EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathyHP:0040284 - Very rare170
HP:0100533HP:0001096Keratoconjunctivitis2ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0100533HP:0001096Keratoconjunctivitis2ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0100533HP:0001096Keratoconjunctivitis2ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0100533HP:0001096Keratoconjunctivitis2ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D106
HP:0100533HP:0001096Keratoconjunctivitis2ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0100533HP:0001096Keratoconjunctivitis2ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0100533HP:0001096Keratoconjunctivitis2ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0100533HP:0001096Keratoconjunctivitis2FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0100533HP:0001096Keratoconjunctivitis2FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0100533HP:0001096Keratoconjunctivitis2FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0100533HP:0001096Keratoconjunctivitis2FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0100533HP:0001096Keratoconjunctivitis2FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0100533HP:0012123Posterior uveitis2FOXP1 CL E G H270863823ORPHA:52417MALT lymphomaHP:0040283 - Occasional184
HP:0100533HP:0001096Keratoconjunctivitis2GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040284 - Very rare29
HP:0100533HP:0025610Posterior blepharitis2GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0100533HP:0011859Punctate keratitis2GJB2 CL E G H27064284OMIM:602540Ichthyosis, hystrix-like, with deafness.199
HP:0100533HP:0001096Keratoconjunctivitis2GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0100533HP:0025610Posterior blepharitis2GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100533HP:0011859Punctate keratitis2GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100533HP:0001096Keratoconjunctivitis2GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0100533HP:0011859Punctate keratitis2GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100533HP:0001096Keratoconjunctivitis2GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100533HP:0025610Posterior blepharitis2GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0100533HP:0001096Keratoconjunctivitis2GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0100533HP:0001096Keratoconjunctivitis2GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0100533HP:0001096Keratoconjunctivitis2GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0100533HP:0001096Keratoconjunctivitis2HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0100533HP:0012122Anterior uveitis2HLA-B CL E G H31064932OMIM:106300Spondyloarthropathy, susceptibility to, 1.4
HP:0100533HP:0001096Keratoconjunctivitis2HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0100533HP:0012122Anterior uveitis2HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 12
HP:0100533HP:0012122Anterior uveitis2HLA-DRB1 CL E G H31234948ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0100533HP:0001096Keratoconjunctivitis2HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiencyHP:0040281 - Very frequent148
HP:0100533HP:0001096Keratoconjunctivitis2IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0100533HP:0001096Keratoconjunctivitis2IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0100533HP:0012123Posterior uveitis2IGH CL E G H34925477ORPHA:52417MALT lymphomaHP:0040283 - Occasional7
HP:0100533HP:0012122Anterior uveitis2IKBKG CL E G H85175961OMIM:30108152
HP:0100533HP:0012121Panuveitis2IKBKG CL E G H85175961OMIM:30108152
HP:0100533HP:0001096Keratoconjunctivitis2IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0100533HP:0001096Keratoconjunctivitis2IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0100533HP:0001096Keratoconjunctivitis2IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0100533HP:0001096Keratoconjunctivitis2IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0100533HP:0012122Anterior uveitis2IL2RA CL E G H35596008ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis65
HP:0100533HP:0012122Anterior uveitis2IL2RB CL E G H35606009ORPHA:85408Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0100533HP:0012122Anterior uveitis2IL6 CL E G H35696018ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0100533HP:0001096Keratoconjunctivitis2KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0100533HP:0012122Anterior uveitis2LACC1 CL E G H14481126789ORPHA:85414Systemic-onset juvenile idiopathic arthritisHP:0040283 - Occasional1
HP:0100533HP:0001096Keratoconjunctivitis2LBR CL E G H39306518ORPHA:779Reynolds syndrome70
HP:0100533HP:0001096Keratoconjunctivitis2MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0100533HP:0012123Posterior uveitis2MALT1 CL E G H108926819ORPHA:52417MALT lymphomaHP:0040283 - Occasional6
HP:0100533HP:0025610Posterior blepharitis2MBTPS2