Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the vasculature of the eye (HP:0008047)help
Parent Node:
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Abnormal conjunctiva morphology (HP:0000502)help
Parent Node:
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Inflammatory abnormality of the eye (HP:0100533)help
Parent Node:
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Red eye (HP:0025337)help
..Starting node
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Conjunctivitis (HP:0000509)help
Term ID: 509
Name: Conjunctivitis
Synonym: Conjunctivitis, recurrent; Pink eye
Definition: Inflammation of the conjunctiva.
Comments:
Reference: HP:0000509
Genes and Diseases:
 
       Child Nodes:
........expandKeratoconjunctivitis (HP:0001096) help
................... HP:0001097 Keratoconjunctivitis sicca
........expandChronic irritative conjunctivitis (HP:0007717) help
........expandAllergic conjunctivitis (HP:0007879) help

 Sister Nodes: 
..expandConjunctival hyperemia (HP:0030953) help
..expandDeep episcleral hyperemia (HP:0025340) help
..expandSuperficial episcleral hyperemia (HP:0025339) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000509HP:0000509Conjunctivitis0BLNK CL E G H2976033110ORPHA120414211604515
HP:0000509HP:0000509Conjunctivitis0BLNK CL E G H2976033110ORPHA117014211604515
HP:0000509HP:0000509Conjunctivitis0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0000509HP:0000509Conjunctivitis0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0000509HP:0000509Conjunctivitis0BTK CL E G H69547ORPHA15481133300300
HP:0000509HP:0000509Conjunctivitis0BTK CL E G H69547ORPHA15001133300300
HP:0000509HP:0000509Conjunctivitis0BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM15481133300300
HP:0000509HP:0000509Conjunctivitis0BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM15001133300300
HP:0000509HP:0000509Conjunctivitis0BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM15481133300300
HP:0000509HP:0000509Conjunctivitis0BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM15001133300300
HP:0000509HP:0000509Conjunctivitis0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12721633107265
HP:0000509HP:0000509Conjunctivitis0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12231633107265
HP:0000509HP:0000509Conjunctivitis0CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM12231633107265
HP:0000509HP:0000509Conjunctivitis0CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM12721633107265
HP:0000509HP:0000509Conjunctivitis0CD79A CL E G H97333110ORPHA1811698112205
HP:0000509HP:0000509Conjunctivitis0CD79A CL E G H97333110ORPHA1971698112205
HP:0000509HP:0000509Conjunctivitis0CD79B CL E G H97433110ORPHA1951699147245
HP:0000509HP:0000509Conjunctivitis0CD79B CL E G H97433110ORPHA1801699147245
HP:0000509HP:0000509Conjunctivitis0CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM1951699147245
HP:0000509HP:0000509Conjunctivitis0CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM1801699147245
HP:0000509HP:0000509Conjunctivitis0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0000509HP:0000509Conjunctivitis0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0000509HP:0000509Conjunctivitis0CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM13582336120650
HP:0000509HP:0000509Conjunctivitis0CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM14532336120650
HP:0000509HP:0000509Conjunctivitis0DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0000509HP:0000509Conjunctivitis0DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0000509HP:0000509Conjunctivitis0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0000509HP:0000509Conjunctivitis0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0000509HP:0000509Conjunctivitis0DNASE1L3 CL E G H177636412ORPHA11052959602244
HP:0000509HP:0000509Conjunctivitis0DNASE1L3 CL E G H177636412ORPHA1452959602244
HP:0000509HP:0000509Conjunctivitis0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0000509HP:0000509Conjunctivitis0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0000509HP:0000509Conjunctivitis0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0000509HP:0000509Conjunctivitis0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0000509HP:0000509Conjunctivitis0ERF CL E G H2077207EchinococcosisORPHA11203444611888
HP:0000509HP:0000509Conjunctivitis0ERF CL E G H2077207EchinococcosisORPHA11113444611888
HP:0000509HP:0000509Conjunctivitis0FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM15013689176943
HP:0000509HP:0000509Conjunctivitis0FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM14663689176943
HP:0000509HP:0000509Conjunctivitis0FGFR2 CL E G H2263207EchinococcosisORPHA15013689176943
HP:0000509HP:0000509Conjunctivitis0FGFR2 CL E G H2263207EchinococcosisORPHA14663689176943
HP:0000509HP:0000509Conjunctivitis0FOXC2 CL E G H230333001ORPHA11153801602402
HP:0000509HP:0000509Conjunctivitis0FOXC2 CL E G H230333001ORPHA11173801602402
HP:0000509HP:0000509Conjunctivitis0FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM11173801602402
HP:0000509HP:0000509Conjunctivitis0FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM11153801602402
HP:0000509HP:0000509Conjunctivitis0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0000509HP:0000509Conjunctivitis0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0000509HP:0000509Conjunctivitis0ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11545351604558
HP:0000509HP:0000509Conjunctivitis0ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11375351604558
HP:0000509HP:0000509Conjunctivitis0ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11545351604558
HP:0000509HP:0000509Conjunctivitis0ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11375351604558
HP:0000509HP:0000509Conjunctivitis0IGHM CL E G H350733110ORPHA1815541147020
HP:0000509HP:0000509Conjunctivitis0IGHM CL E G H350733110ORPHA1825541147020
HP:0000509HP:0000509Conjunctivitis0IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1825541147020
HP:0000509HP:0000509Conjunctivitis0IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1815541147020
HP:0000509HP:0000509Conjunctivitis0IGLL1 CL E G H354333110ORPHA12655870146770
HP:0000509HP:0000509Conjunctivitis0IGLL1 CL E G H354333110ORPHA12345870146770
HP:0000509HP:0000509Conjunctivitis0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM112531742606453
HP:0000509HP:0000509Conjunctivitis0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM19861742606453
HP:0000509HP:0000509Conjunctivitis0LRRC8A CL E G H5626233110ORPHA19619027608360
HP:0000509HP:0000509Conjunctivitis0LRRC8A CL E G H5626233110ORPHA116919027608360
HP:0000509HP:0000509Conjunctivitis0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM123115455300294
HP:0000509HP:0000509Conjunctivitis0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM124215455300294
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA167616400606416
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA160516400606416
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM160516400606416
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM167616400606416
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM167616400606416
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM160516400606416
HP:0000509HP:0000509Conjunctivitis0PIK3R1 CL E G H529533110ORPHA13078979171833
HP:0000509HP:0000509Conjunctivitis0PIK3R1 CL E G H529533110ORPHA12628979171833
HP:0000509HP:0000509Conjunctivitis0PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000509HP:0000509Conjunctivitis0PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000509HP:0000509Conjunctivitis0POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13079181603968
HP:0000509HP:0000509Conjunctivitis0POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13039181603968
HP:0000509HP:0000509Conjunctivitis0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1849541602177
HP:0000509HP:0000509Conjunctivitis0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1329541602177
HP:0000509HP:0000509Conjunctivitis0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11369545177046
HP:0000509HP:0000509Conjunctivitis0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11219545177046
HP:0000509HP:0000509Conjunctivitis0PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1149546177045
HP:0000509HP:0000509Conjunctivitis0RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM14919831179615
HP:0000509HP:0000509Conjunctivitis0RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM14269831179615
HP:0000509HP:0000509Conjunctivitis0RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM12789832179616
HP:0000509HP:0000509Conjunctivitis0RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM13259832179616
HP:0000509HP:0000509Conjunctivitis0SAMD9 CL E G H54809610455Tumoral calcinosis, familial, normophosphatemic610455C1864861OMIM11461348610456
HP:0000509HP:0000509Conjunctivitis0SAMD9 CL E G H54809610455Tumoral calcinosis, familial, normophosphatemic610455C1864861OMIM13681348610456
HP:0000509HP:0000509Conjunctivitis0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA148617129607059
HP:0000509HP:0000509Conjunctivitis0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA144917129607059
HP:0000509HP:0000509Conjunctivitis0TCF3 CL E G H692933110ORPHA114111633147141
HP:0000509HP:0000509Conjunctivitis0TCF3 CL E G H692933110ORPHA129011633147141
HP:0000509HP:0000509Conjunctivitis0TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM128418153604907
HP:0000509HP:0000509Conjunctivitis0TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM132218153604907
HP:0000509HP:0000509Conjunctivitis0TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM112517755606269
HP:0000509HP:0000509Conjunctivitis0TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM110117755606269
HP:0000509HP:0000509Conjunctivitis0TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM144415979603273
HP:0000509HP:0000509Conjunctivitis0TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM137615979603273
HP:0000509HP:0000509Conjunctivitis0TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM144415979603273
HP:0000509HP:0000509Conjunctivitis0TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM137615979603273
HP:0000509HP:0000509Conjunctivitis0UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM113812592606938
HP:0000509HP:0000509Conjunctivitis0UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM115212592606938
HP:0000509HP:0000509Conjunctivitis0USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM111825792613276
HP:0000509HP:0000509Conjunctivitis0USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM118125792613276
HP:0000509HP:0000509Conjunctivitis0XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM123112814611153
HP:0000509HP:0000509Conjunctivitis0XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM122112814611153
HP:0000509HP:0000509Conjunctivitis0XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM151812816613208
HP:0000509HP:0000509Conjunctivitis0XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM154512816613208
HP:0000509HP:0007717Chronic irritative conjunctivitis1BLNK CL E G H2976033110ORPHA117014211604515
HP:0000509HP:0001096Keratoconjunctivitis1BLNK CL E G H2976033110ORPHA120414211604515
HP:0000509HP:0007879Allergic conjunctivitis1BLNK CL E G H2976033110ORPHA120414211604515
HP:0000509HP:0001096Keratoconjunctivitis1BLNK CL E G H2976033110ORPHA117014211604515
HP:0000509HP:0007879Allergic conjunctivitis1BLNK CL E G H2976033110ORPHA117014211604515
HP:0000509HP:0007717Chronic irritative conjunctivitis1BLNK CL E G H2976033110ORPHA120414211604515
HP:0000509HP:0007879Allergic conjunctivitis1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0000509HP:0001096Keratoconjunctivitis1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0000509HP:0007717Chronic irritative conjunctivitis1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0000509HP:0007717Chronic irritative conjunctivitis1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0000509HP:0001096Keratoconjunctivitis1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0000509HP:0007879Allergic conjunctivitis1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0000509HP:0007879Allergic conjunctivitis1BTK CL E G H69547ORPHA15481133300300
HP:0000509HP:0001096Keratoconjunctivitis1BTK CL E G H69547ORPHA15481133300300
HP:0000509HP:0007879Allergic conjunctivitis1BTK CL E G H69547ORPHA15001133300300
HP:0000509HP:0001096Keratoconjunctivitis1BTK CL E G H69547ORPHA15001133300300
HP:0000509HP:0007717Chronic irritative conjunctivitis1BTK CL E G H69547ORPHA15481133300300
HP:0000509HP:0007717Chronic irritative conjunctivitis1BTK CL E G H69547ORPHA15001133300300
HP:0000509HP:0007717Chronic irritative conjunctivitis1BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM15001133300300
HP:0000509HP:0007879Allergic conjunctivitis1BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM15481133300300
HP:0000509HP:0001096Keratoconjunctivitis1BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM15481133300300
HP:0000509HP:0007879Allergic conjunctivitis1BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM15001133300300
HP:0000509HP:0001096Keratoconjunctivitis1BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM15001133300300
HP:0000509HP:0007717Chronic irritative conjunctivitis1BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM15481133300300
HP:0000509HP:0007717Chronic irritative conjunctivitis1BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM15001133300300
HP:0000509HP:0007879Allergic conjunctivitis1BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM15481133300300
HP:0000509HP:0001096Keratoconjunctivitis1BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM15481133300300
HP:0000509HP:0007879Allergic conjunctivitis1BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM15001133300300
HP:0000509HP:0001096Keratoconjunctivitis1BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM15001133300300
HP:0000509HP:0007717Chronic irritative conjunctivitis1BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM15481133300300
HP:0000509HP:0007717Chronic irritative conjunctivitis1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12231633107265
HP:0000509HP:0007879Allergic conjunctivitis1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12721633107265
HP:0000509HP:0001096Keratoconjunctivitis1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12721633107265
HP:0000509HP:0007879Allergic conjunctivitis1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12231633107265
HP:0000509HP:0001096Keratoconjunctivitis1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12231633107265
HP:0000509HP:0007717Chronic irritative conjunctivitis1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12721633107265
HP:0000509HP:0007879Allergic conjunctivitis1CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM12231633107265
HP:0000509HP:0001096Keratoconjunctivitis1CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM12231633107265
HP:0000509HP:0007717Chronic irritative conjunctivitis1CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM12721633107265
HP:0000509HP:0007717Chronic irritative conjunctivitis1CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM12231633107265
HP:0000509HP:0007879Allergic conjunctivitis1CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM12721633107265
HP:0000509HP:0001096Keratoconjunctivitis1CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM12721633107265
HP:0000509HP:0007879Allergic conjunctivitis1CD79A CL E G H97333110ORPHA1811698112205
HP:0000509HP:0001096Keratoconjunctivitis1CD79A CL E G H97333110ORPHA1811698112205
HP:0000509HP:0007717Chronic irritative conjunctivitis1CD79A CL E G H97333110ORPHA1971698112205
HP:0000509HP:0007717Chronic irritative conjunctivitis1CD79A CL E G H97333110ORPHA1811698112205
HP:0000509HP:0007879Allergic conjunctivitis1CD79A CL E G H97333110ORPHA1971698112205
HP:0000509HP:0001096Keratoconjunctivitis1CD79A CL E G H97333110ORPHA1971698112205
HP:0000509HP:0007717Chronic irritative conjunctivitis1CD79B CL E G H97433110ORPHA1801699147245
HP:0000509HP:0001096Keratoconjunctivitis1CD79B CL E G H97433110ORPHA1951699147245
HP:0000509HP:0007879Allergic conjunctivitis1CD79B CL E G H97433110ORPHA1951699147245
HP:0000509HP:0001096Keratoconjunctivitis1CD79B CL E G H97433110ORPHA1801699147245
HP:0000509HP:0007879Allergic conjunctivitis1CD79B CL E G H97433110ORPHA1801699147245
HP:0000509HP:0007717Chronic irritative conjunctivitis1CD79B CL E G H97433110ORPHA1951699147245
HP:0000509HP:0007717Chronic irritative conjunctivitis1CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM1801699147245
HP:0000509HP:0007879Allergic conjunctivitis1CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM1951699147245
HP:0000509HP:0001096Keratoconjunctivitis1CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM1951699147245
HP:0000509HP:0001096Keratoconjunctivitis1CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM1801699147245
HP:0000509HP:0007879Allergic conjunctivitis1CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM1801699147245
HP:0000509HP:0007717Chronic irritative conjunctivitis1CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM1951699147245
HP:0000509HP:0007879Allergic conjunctivitis1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0000509HP:0001096Keratoconjunctivitis1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0000509HP:0007717Chronic irritative conjunctivitis1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0000509HP:0007717Chronic irritative conjunctivitis1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0000509HP:0007879Allergic conjunctivitis1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0000509HP:0001096Keratoconjunctivitis1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0000509HP:0007879Allergic conjunctivitis1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM13582336120650
HP:0000509HP:0001096Keratoconjunctivitis1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM13582336120650
HP:0000509HP:0007717Chronic irritative conjunctivitis1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM14532336120650
HP:0000509HP:0007717Chronic irritative conjunctivitis1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM13582336120650
HP:0000509HP:0007879Allergic conjunctivitis1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM14532336120650
HP:0000509HP:0001096Keratoconjunctivitis1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM14532336120650
HP:0000509HP:0007879Allergic conjunctivitis1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0000509HP:0001096Keratoconjunctivitis1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0000509HP:0007717Chronic irritative conjunctivitis1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0000509HP:0007717Chronic irritative conjunctivitis1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0000509HP:0007879Allergic conjunctivitis1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0000509HP:0001096Keratoconjunctivitis1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0000509HP:0007879Allergic conjunctivitis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0000509HP:0001096Keratoconjunctivitis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0000509HP:0007717Chronic irritative conjunctivitis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0000509HP:0007717Chronic irritative conjunctivitis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0000509HP:0007879Allergic conjunctivitis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0000509HP:0001096Keratoconjunctivitis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0000509HP:0007717Chronic irritative conjunctivitis1DNASE1L3 CL E G H177636412ORPHA1452959602244
HP:0000509HP:0007879Allergic conjunctivitis1DNASE1L3 CL E G H177636412ORPHA11052959602244
HP:0000509HP:0001096Keratoconjunctivitis1DNASE1L3 CL E G H177636412ORPHA11052959602244
HP:0000509HP:0007879Allergic conjunctivitis1DNASE1L3 CL E G H177636412ORPHA1452959602244
HP:0000509HP:0001096Keratoconjunctivitis1DNASE1L3 CL E G H177636412ORPHA1452959602244
HP:0000509HP:0007717Chronic irritative conjunctivitis1DNASE1L3 CL E G H177636412ORPHA11052959602244
HP:0000509HP:0007717Chronic irritative conjunctivitis1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0000509HP:0007879Allergic conjunctivitis1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0000509HP:0001096Keratoconjunctivitis1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0000509HP:0007879Allergic conjunctivitis1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0000509HP:0001096Keratoconjunctivitis1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0000509HP:0007717Chronic irritative conjunctivitis1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0000509HP:0007879Allergic conjunctivitis1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0000509HP:0001096Keratoconjunctivitis1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0000509HP:0007717Chronic irritative conjunctivitis1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0000509HP:0007717Chronic irritative conjunctivitis1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0000509HP:0007879Allergic conjunctivitis1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0000509HP:0001096Keratoconjunctivitis1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0000509HP:0007717Chronic irritative conjunctivitis1ERF CL E G H2077207EchinococcosisORPHA11203444611888
HP:0000509HP:0007717Chronic irritative conjunctivitis1ERF CL E G H2077207EchinococcosisORPHA11113444611888
HP:0000509HP:0007879Allergic conjunctivitis1ERF CL E G H2077207EchinococcosisORPHA11203444611888
HP:0000509HP:0001096Keratoconjunctivitis1ERF CL E G H2077207EchinococcosisORPHA11203444611888
HP:0000509HP:0007879Allergic conjunctivitis1ERF CL E G H2077207EchinococcosisORPHA11113444611888
HP:0000509HP:0001096Keratoconjunctivitis1ERF CL E G H2077207EchinococcosisORPHA11113444611888
HP:0000509HP:0007717Chronic irritative conjunctivitis1FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM15013689176943
HP:0000509HP:0007717Chronic irritative conjunctivitis1FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM14663689176943
HP:0000509HP:0007879Allergic conjunctivitis1FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM15013689176943
HP:0000509HP:0001096Keratoconjunctivitis1FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM15013689176943
HP:0000509HP:0007879Allergic conjunctivitis1FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM14663689176943
HP:0000509HP:0001096Keratoconjunctivitis1FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM14663689176943
HP:0000509HP:0007879Allergic conjunctivitis1FGFR2 CL E G H2263207EchinococcosisORPHA15013689176943
HP:0000509HP:0001096Keratoconjunctivitis1FGFR2 CL E G H2263207EchinococcosisORPHA15013689176943
HP:0000509HP:0007879Allergic conjunctivitis1FGFR2 CL E G H2263207EchinococcosisORPHA14663689176943
HP:0000509HP:0001096Keratoconjunctivitis1FGFR2 CL E G H2263207EchinococcosisORPHA14663689176943
HP:0000509HP:0007717Chronic irritative conjunctivitis1FGFR2 CL E G H2263207EchinococcosisORPHA15013689176943
HP:0000509HP:0007717Chronic irritative conjunctivitis1FGFR2 CL E G H2263207EchinococcosisORPHA14663689176943
HP:0000509HP:0007879Allergic conjunctivitis1FOXC2 CL E G H230333001ORPHA11153801602402
HP:0000509HP:0001096Keratoconjunctivitis1FOXC2 CL E G H230333001ORPHA11153801602402
HP:0000509HP:0007717Chronic irritative conjunctivitis1FOXC2 CL E G H230333001ORPHA11173801602402
HP:0000509HP:0007717Chronic irritative conjunctivitis1FOXC2 CL E G H230333001ORPHA11153801602402
HP:0000509HP:0007879Allergic conjunctivitis1FOXC2 CL E G H230333001ORPHA11173801602402
HP:0000509HP:0001096Keratoconjunctivitis1FOXC2 CL E G H230333001ORPHA11173801602402
HP:0000509HP:0007717Chronic irritative conjunctivitis1FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM11153801602402
HP:0000509HP:0001096Keratoconjunctivitis1FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM11173801602402
HP:0000509HP:0007879Allergic conjunctivitis1FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM11173801602402
HP:0000509HP:0001096Keratoconjunctivitis1FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM11153801602402
HP:0000509HP:0007879Allergic conjunctivitis1FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM11153801602402
HP:0000509HP:0007717Chronic irritative conjunctivitis1FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM11173801602402
HP:0000509HP:0007879Allergic conjunctivitis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0000509HP:0001096Keratoconjunctivitis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0000509HP:0007879Allergic conjunctivitis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0000509HP:0001096Keratoconjunctivitis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0000509HP:0007717Chronic irritative conjunctivitis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0000509HP:0007717Chronic irritative conjunctivitis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0000509HP:0007717Chronic irritative conjunctivitis1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11375351604558
HP:0000509HP:0001096Keratoconjunctivitis1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11545351604558
HP:0000509HP:0007879Allergic conjunctivitis1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11545351604558
HP:0000509HP:0001096Keratoconjunctivitis1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11375351604558
HP:0000509HP:0007879Allergic conjunctivitis1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11375351604558
HP:0000509HP:0007717Chronic irritative conjunctivitis1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11545351604558
HP:0000509HP:0007717Chronic irritative conjunctivitis1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11375351604558
HP:0000509HP:0007879Allergic conjunctivitis1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11545351604558
HP:0000509HP:0001096Keratoconjunctivitis1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11545351604558
HP:0000509HP:0007879Allergic conjunctivitis1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11375351604558
HP:0000509HP:0001096Keratoconjunctivitis1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11375351604558
HP:0000509HP:0007717Chronic irritative conjunctivitis1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11545351604558
HP:0000509HP:0007879Allergic conjunctivitis1IGHM CL E G H350733110ORPHA1815541147020
HP:0000509HP:0001096Keratoconjunctivitis1IGHM CL E G H350733110ORPHA1815541147020
HP:0000509HP:0007717Chronic irritative conjunctivitis1IGHM CL E G H350733110ORPHA1825541147020
HP:0000509HP:0007717Chronic irritative conjunctivitis1IGHM CL E G H350733110ORPHA1815541147020
HP:0000509HP:0007879Allergic conjunctivitis1IGHM CL E G H350733110ORPHA1825541147020
HP:0000509HP:0001096Keratoconjunctivitis1IGHM CL E G H350733110ORPHA1825541147020
HP:0000509HP:0007717Chronic irritative conjunctivitis1IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1815541147020
HP:0000509HP:0001096Keratoconjunctivitis1IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1825541147020
HP:0000509HP:0007879Allergic conjunctivitis1IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1825541147020
HP:0000509HP:0001096Keratoconjunctivitis1IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1815541147020
HP:0000509HP:0007879Allergic conjunctivitis1IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1815541147020
HP:0000509HP:0007717Chronic irritative conjunctivitis1IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1825541147020
HP:0000509HP:0007717Chronic irritative conjunctivitis1IGLL1 CL E G H354333110ORPHA12345870146770
HP:0000509HP:0007879Allergic conjunctivitis1IGLL1 CL E G H354333110ORPHA12655870146770
HP:0000509HP:0001096Keratoconjunctivitis1IGLL1 CL E G H354333110ORPHA12655870146770
HP:0000509HP:0007879Allergic conjunctivitis1IGLL1 CL E G H354333110ORPHA12345870146770
HP:0000509HP:0001096Keratoconjunctivitis1IGLL1 CL E G H354333110ORPHA12345870146770
HP:0000509HP:0007717Chronic irritative conjunctivitis1IGLL1 CL E G H354333110ORPHA12655870146770
HP:0000509HP:0007717Chronic irritative conjunctivitis1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM19861742606453
HP:0000509HP:0007879Allergic conjunctivitis1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM112531742606453
HP:0000509HP:0001096Keratoconjunctivitis1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM112531742606453
HP:0000509HP:0007879Allergic conjunctivitis1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM19861742606453
HP:0000509HP:0001096Keratoconjunctivitis1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM19861742606453
HP:0000509HP:0007717Chronic irritative conjunctivitis1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM112531742606453
HP:0000509HP:0007879Allergic conjunctivitis1LRRC8A CL E G H5626233110ORPHA19619027608360
HP:0000509HP:0001096Keratoconjunctivitis1LRRC8A CL E G H5626233110ORPHA19619027608360
HP:0000509HP:0007717Chronic irritative conjunctivitis1LRRC8A CL E G H5626233110ORPHA116919027608360
HP:0000509HP:0007717Chronic irritative conjunctivitis1LRRC8A CL E G H5626233110ORPHA19619027608360
HP:0000509HP:0007879Allergic conjunctivitis1LRRC8A CL E G H5626233110ORPHA116919027608360
HP:0000509HP:0001096Keratoconjunctivitis1LRRC8A CL E G H5626233110ORPHA116919027608360
HP:0000509HP:0007879Allergic conjunctivitis1MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM123115455300294
HP:0000509HP:0001096Keratoconjunctivitis1MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM123115455300294
HP:0000509HP:0007717Chronic irritative conjunctivitis1MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM124215455300294
HP:0000509HP:0007717Chronic irritative conjunctivitis1MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM123115455300294
HP:0000509HP:0007879Allergic conjunctivitis1MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM124215455300294
HP:0000509HP:0001096Keratoconjunctivitis1MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM124215455300294
HP:0000509HP:0007717Chronic irritative conjunctivitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA167616400606416
HP:0000509HP:0007717Chronic irritative conjunctivitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA160516400606416
HP:0000509HP:0007879Allergic conjunctivitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA167616400606416
HP:0000509HP:0001096Keratoconjunctivitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA167616400606416
HP:0000509HP:0007879Allergic conjunctivitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA160516400606416
HP:0000509HP:0001096Keratoconjunctivitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA160516400606416
HP:0000509HP:0007879Allergic conjunctivitis1NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM160516400606416
HP:0000509HP:0001096Keratoconjunctivitis1NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM160516400606416
HP:0000509HP:0007717Chronic irritative conjunctivitis1NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM167616400606416
HP:0000509HP:0007717Chronic irritative conjunctivitis1NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM160516400606416
HP:0000509HP:0007879Allergic conjunctivitis1NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM167616400606416
HP:0000509HP:0001096Keratoconjunctivitis1NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM167616400606416
HP:0000509HP:0007879Allergic conjunctivitis1NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM167616400606416
HP:0000509HP:0001096Keratoconjunctivitis1NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM167616400606416
HP:0000509HP:0007879Allergic conjunctivitis1NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM160516400606416
HP:0000509HP:0001096Keratoconjunctivitis1NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM160516400606416
HP:0000509HP:0007717Chronic irritative conjunctivitis1NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM167616400606416
HP:0000509HP:0007717Chronic irritative conjunctivitis1NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM160516400606416
HP:0000509HP:0007717Chronic irritative conjunctivitis1PIK3R1 CL E G H529533110ORPHA12628979171833
HP:0000509HP:0007879Allergic conjunctivitis1PIK3R1 CL E G H529533110ORPHA13078979171833
HP:0000509HP:0001096Keratoconjunctivitis1PIK3R1 CL E G H529533110ORPHA13078979171833
HP:0000509HP:0007879Allergic conjunctivitis1PIK3R1 CL E G H529533110ORPHA12628979171833
HP:0000509HP:0001096Keratoconjunctivitis1PIK3R1 CL E G H529533110ORPHA12628979171833
HP:0000509HP:0007717Chronic irritative conjunctivitis1PIK3R1 CL E G H529533110ORPHA13078979171833
HP:0000509HP:0007717Chronic irritative conjunctivitis1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000509HP:0007879Allergic conjunctivitis1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000509HP:0001096Keratoconjunctivitis1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000509HP:0007879Allergic conjunctivitis1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000509HP:0001096Keratoconjunctivitis1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000509HP:0007717Chronic irritative conjunctivitis1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000509HP:0007717Chronic irritative conjunctivitis1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13039181603968
HP:0000509HP:0007879Allergic conjunctivitis1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13079181603968
HP:0000509HP:0001096Keratoconjunctivitis1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13079181603968
HP:0000509HP:0007879Allergic conjunctivitis1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13039181603968
HP:0000509HP:0001096Keratoconjunctivitis1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13039181603968
HP:0000509HP:0007717Chronic irritative conjunctivitis1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13079181603968
HP:0000509HP:0007717Chronic irritative conjunctivitis1PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1329541602177
HP:0000509HP:0007879Allergic conjunctivitis1PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1849541602177
HP:0000509HP:0001096Keratoconjunctivitis1PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1849541602177
HP:0000509HP:0007879Allergic conjunctivitis1PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1329541602177
HP:0000509HP:0001096Keratoconjunctivitis1PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1329541602177
HP:0000509HP:0007717Chronic irritative conjunctivitis1PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1849541602177
HP:0000509HP:0007717Chronic irritative conjunctivitis1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11219545177046
HP:0000509HP:0007879Allergic conjunctivitis1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11369545177046
HP:0000509HP:0001096Keratoconjunctivitis1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11369545177046
HP:0000509HP:0007879Allergic conjunctivitis1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11219545177046
HP:0000509HP:0001096Keratoconjunctivitis1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11219545177046
HP:0000509HP:0007717Chronic irritative conjunctivitis1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11369545177046
HP:0000509HP:0007879Allergic conjunctivitis1PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1149546177045
HP:0000509HP:0001096Keratoconjunctivitis1PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1149546177045
HP:0000509HP:0007717Chronic irritative conjunctivitis1PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1149546177045
HP:0000509HP:0007717Chronic irritative conjunctivitis1RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM14269831179615
HP:0000509HP:0001096Keratoconjunctivitis1RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM14919831179615
HP:0000509HP:0007879Allergic conjunctivitis1RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM14919831179615
HP:0000509HP:0007879Allergic conjunctivitis1RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM14269831179615
HP:0000509HP:0001096Keratoconjunctivitis1RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM14269831179615
HP:0000509HP:0007717Chronic irritative conjunctivitis1RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM14919831179615
HP:0000509HP:0007879Allergic conjunctivitis1RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM12789832179616
HP:0000509HP:0001096Keratoconjunctivitis1RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM12789832179616
HP:0000509HP:0007717Chronic irritative conjunctivitis1RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM13259832179616
HP:0000509HP:0007717Chronic irritative conjunctivitis1RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM12789832179616
HP:0000509HP:0007879Allergic conjunctivitis1RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM13259832179616
HP:0000509HP:0001096Keratoconjunctivitis1RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM13259832179616
HP:0000509HP:0007879Allergic conjunctivitis1SAMD9 CL E G H54809610455Tumoral calcinosis, familial, normophosphatemic610455C1864861OMIM11461348610456
HP:0000509HP:0001096Keratoconjunctivitis1SAMD9 CL E G H54809610455Tumoral calcinosis, familial, normophosphatemic610455C1864861OMIM11461348610456
HP:0000509HP:0007717Chronic irritative conjunctivitis1SAMD9 CL E G H54809610455Tumoral calcinosis, familial, normophosphatemic610455C1864861OMIM13681348610456
HP:0000509HP:0007717Chronic irritative conjunctivitis1SAMD9 CL E G H54809610455Tumoral calcinosis, familial, normophosphatemic610455C1864861OMIM11461348610456
HP:0000509HP:0007879Allergic conjunctivitis1SAMD9 CL E G H54809610455Tumoral calcinosis, familial, normophosphatemic610455C1864861OMIM13681348610456
HP:0000509HP:0001096Keratoconjunctivitis1SAMD9 CL E G H54809610455Tumoral calcinosis, familial, normophosphatemic610455C1864861OMIM13681348610456
HP:0000509HP:0007717Chronic irritative conjunctivitis1SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA148617129607059
HP:0000509HP:0007717Chronic irritative conjunctivitis1SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA144917129607059
HP:0000509HP:0001096Keratoconjunctivitis1SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA148617129607059
HP:0000509HP:0007879Allergic conjunctivitis1SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA148617129607059
HP:0000509HP:0001096Keratoconjunctivitis1SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA144917129607059
HP:0000509HP:0007879Allergic conjunctivitis1SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA144917129607059
HP:0000509HP:0007879Allergic conjunctivitis1TCF3 CL E G H692933110ORPHA114111633147141
HP:0000509HP:0001096Keratoconjunctivitis1TCF3 CL E G H692933110ORPHA114111633147141
HP:0000509HP:0007717Chronic irritative conjunctivitis1TCF3 CL E G H692933110ORPHA129011633147141
HP:0000509HP:0007717Chronic irritative conjunctivitis1TCF3 CL E G H692933110ORPHA114111633147141
HP:0000509HP:0007879Allergic conjunctivitis1TCF3 CL E G H692933110ORPHA129011633147141
HP:0000509HP:0001096Keratoconjunctivitis1TCF3 CL E G H692933110ORPHA129011633147141
HP:0000509HP:0007879Allergic conjunctivitis1TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM128418153604907
HP:0000509HP:0001096Keratoconjunctivitis1TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM128418153604907
HP:0000509HP:0007717Chronic irritative conjunctivitis1TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM132218153604907
HP:0000509HP:0007717Chronic irritative conjunctivitis1TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM128418153604907
HP:0000509HP:0007879Allergic conjunctivitis1TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM132218153604907
HP:0000509HP:0001096Keratoconjunctivitis1TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM132218153604907
HP:0000509HP:0007717Chronic irritative conjunctivitis1TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM110117755606269
HP:0000509HP:0007879Allergic conjunctivitis1TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM112517755606269
HP:0000509HP:0001096Keratoconjunctivitis1TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM112517755606269
HP:0000509HP:0007879Allergic conjunctivitis1TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM110117755606269
HP:0000509HP:0001096Keratoconjunctivitis1TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM110117755606269
HP:0000509HP:0007717Chronic irritative conjunctivitis1TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM112517755606269
HP:0000509HP:0007879Allergic conjunctivitis1TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM144415979603273
HP:0000509HP:0001096Keratoconjunctivitis1TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM144415979603273
HP:0000509HP:0001096Keratoconjunctivitis1TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM137615979603273
HP:0000509HP:0007879Allergic conjunctivitis1TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM137615979603273
HP:0000509HP:0007717Chronic irritative conjunctivitis1TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM144415979603273
HP:0000509HP:0007717Chronic irritative conjunctivitis1TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM137615979603273
HP:0000509HP:0007717Chronic irritative conjunctivitis1TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM144415979603273
HP:0000509HP:0007717Chronic irritative conjunctivitis1TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM137615979603273
HP:0000509HP:0007879Allergic conjunctivitis1TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM144415979603273
HP:0000509HP:0001096Keratoconjunctivitis1TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM144415979603273
HP:0000509HP:0007879Allergic conjunctivitis1TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM137615979603273
HP:0000509HP:0001096Keratoconjunctivitis1TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM137615979603273
HP:0000509HP:0001096Keratoconjunctivitis1UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM113812592606938
HP:0000509HP:0007879Allergic conjunctivitis1UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM113812592606938
HP:0000509HP:0007717Chronic irritative conjunctivitis1UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM115212592606938
HP:0000509HP:0007717Chronic irritative conjunctivitis1UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM113812592606938
HP:0000509HP:0001096Keratoconjunctivitis1UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM115212592606938
HP:0000509HP:0007879Allergic conjunctivitis1UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM115212592606938
HP:0000509HP:0007879Allergic conjunctivitis1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM111825792613276
HP:0000509HP:0001096Keratoconjunctivitis1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM111825792613276
HP:0000509HP:0007717Chronic irritative conjunctivitis1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM118125792613276
HP:0000509HP:0007717Chronic irritative conjunctivitis1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM111825792613276
HP:0000509HP:0007879Allergic conjunctivitis1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM118125792613276
HP:0000509HP:0001096Keratoconjunctivitis1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM118125792613276
HP:0000509HP:0007717Chronic irritative conjunctivitis1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM122112814611153
HP:0000509HP:0007879Allergic conjunctivitis1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM123112814611153
HP:0000509HP:0001096Keratoconjunctivitis1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM123112814611153
HP:0000509HP:0007879Allergic conjunctivitis1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM122112814611153
HP:0000509HP:0001096Keratoconjunctivitis1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM122112814611153
HP:0000509HP:0007717Chronic irritative conjunctivitis1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM123112814611153
HP:0000509HP:0001096Keratoconjunctivitis1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM151812816613208
HP:0000509HP:0007879Allergic conjunctivitis1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM151812816613208
HP:0000509HP:0007717Chronic irritative conjunctivitis1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM154512816613208
HP:0000509HP:0007717Chronic irritative conjunctivitis1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM151812816613208
HP:0000509HP:0001096Keratoconjunctivitis1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM154512816613208
HP:0000509HP:0007879Allergic conjunctivitis1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM154512816613208
HP:0000509HP:0001097Keratoconjunctivitis sicca2BLNK CL E G H2976033110ORPHA117014211604515
HP:0000509HP:0001097Keratoconjunctivitis sicca2BLNK CL E G H2976033110ORPHA120414211604515
HP:0000509HP:0001097Keratoconjunctivitis sicca2BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0000509HP:0001097Keratoconjunctivitis sicca2BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0000509HP:0001097Keratoconjunctivitis sicca2BTK CL E G H69547ORPHA15481133300300
HP:0000509HP:0001097Keratoconjunctivitis sicca2BTK CL E G H69547ORPHA15001133300300
HP:0000509HP:0001097Keratoconjunctivitis sicca2BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM15001133300300
HP:0000509HP:0001097Keratoconjunctivitis sicca2BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM15481133300300
HP:0000509HP:0001097Keratoconjunctivitis sicca2BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM15001133300300
HP:0000509HP:0001097Keratoconjunctivitis sicca2BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM15481133300300
HP:0000509HP:0001097Keratoconjunctivitis sicca2CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12231633107265
HP:0000509HP:0001097Keratoconjunctivitis sicca2CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM12721633107265
HP:0000509HP:0001097Keratoconjunctivitis sicca2CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM12721633107265
HP:0000509HP:0001097Keratoconjunctivitis sicca2CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM12231633107265
HP:0000509HP:0001097Keratoconjunctivitis sicca2CD79A CL E G H97333110ORPHA1971698112205
HP:0000509HP:0001097Keratoconjunctivitis sicca2CD79A CL E G H97333110ORPHA1811698112205
HP:0000509HP:0001097Keratoconjunctivitis sicca2CD79B CL E G H97433110ORPHA1801699147245
HP:0000509HP:0001097Keratoconjunctivitis sicca2CD79B CL E G H97433110ORPHA1951699147245
HP:0000509HP:0001097Keratoconjunctivitis sicca2CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM1801699147245
HP:0000509HP:0001097Keratoconjunctivitis sicca2CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM1951699147245
HP:0000509HP:0001097Keratoconjunctivitis sicca2COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM120282214120120
HP:0000509HP:0001097Keratoconjunctivitis sicca2COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM116582214120120
HP:0000509HP:0001097Keratoconjunctivitis sicca2CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM14532336120650
HP:0000509HP:0001097Keratoconjunctivitis sicca2CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM13582336120650
HP:0000509HP:0001097Keratoconjunctivitis sicca2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11062718600811
HP:0000509HP:0001097Keratoconjunctivitis sicca2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM11002718600811
HP:0000509HP:0001097Keratoconjunctivitis sicca2DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0000509HP:0001097Keratoconjunctivitis sicca2DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0000509HP:0001097Keratoconjunctivitis sicca2DNASE1L3 CL E G H177636412ORPHA1452959602244
HP:0000509HP:0001097Keratoconjunctivitis sicca2DNASE1L3 CL E G H177636412ORPHA11052959602244
HP:0000509HP:0001097Keratoconjunctivitis sicca2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM13603434126340
HP:0000509HP:0001097Keratoconjunctivitis sicca2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM14793434126340
HP:0000509HP:0001097Keratoconjunctivitis sicca2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0000509HP:0001097Keratoconjunctivitis sicca2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0000509HP:0001097Keratoconjunctivitis sicca2ERF CL E G H2077207EchinococcosisORPHA11203444611888
HP:0000509HP:0001097Keratoconjunctivitis sicca2ERF CL E G H2077207EchinococcosisORPHA11113444611888
HP:0000509HP:0001097Keratoconjunctivitis sicca2FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM15013689176943
HP:0000509HP:0001097Keratoconjunctivitis sicca2FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM14663689176943
HP:0000509HP:0001097Keratoconjunctivitis sicca2FGFR2 CL E G H2263207EchinococcosisORPHA15013689176943
HP:0000509HP:0001097Keratoconjunctivitis sicca2FGFR2 CL E G H2263207EchinococcosisORPHA14663689176943
HP:0000509HP:0001097Keratoconjunctivitis sicca2FOXC2 CL E G H230333001ORPHA11173801602402
HP:0000509HP:0001097Keratoconjunctivitis sicca2FOXC2 CL E G H230333001ORPHA11153801602402
HP:0000509HP:0001097Keratoconjunctivitis sicca2FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM11153801602402
HP:0000509HP:0001097Keratoconjunctivitis sicca2FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM11173801602402
HP:0000509HP:0001097Keratoconjunctivitis sicca2GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12234288604418
HP:0000509HP:0001097Keratoconjunctivitis sicca2GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM12144288604418
HP:0000509HP:0001097Keratoconjunctivitis sicca2ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11375351604558
HP:0000509HP:0001097Keratoconjunctivitis sicca2ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM11545351604558
HP:0000509HP:0001097Keratoconjunctivitis sicca2ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11375351604558
HP:0000509HP:0001097Keratoconjunctivitis sicca2ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM11545351604558
HP:0000509HP:0001097Keratoconjunctivitis sicca2IGHM CL E G H350733110ORPHA1825541147020
HP:0000509HP:0001097Keratoconjunctivitis sicca2IGHM CL E G H350733110ORPHA1815541147020
HP:0000509HP:0001097Keratoconjunctivitis sicca2IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1815541147020
HP:0000509HP:0001097Keratoconjunctivitis sicca2IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM1825541147020
HP:0000509HP:0001097Keratoconjunctivitis sicca2IGLL1 CL E G H354333110ORPHA12345870146770
HP:0000509HP:0001097Keratoconjunctivitis sicca2IGLL1 CL E G H354333110ORPHA12655870146770
HP:0000509HP:0001097Keratoconjunctivitis sicca2LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM19861742606453
HP:0000509HP:0001097Keratoconjunctivitis sicca2LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM112531742606453
HP:0000509HP:0001097Keratoconjunctivitis sicca2LRRC8A CL E G H5626233110ORPHA116919027608360
HP:0000509HP:0001097Keratoconjunctivitis sicca2LRRC8A CL E G H5626233110ORPHA19619027608360
HP:0000509HP:0001097Keratoconjunctivitis sicca2MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM124215455300294
HP:0000509HP:0001097Keratoconjunctivitis sicca2MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM123115455300294
HP:0000509HP:0001097Keratoconjunctivitis sicca2NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA167616400606416
HP:0000509HP:0001097Keratoconjunctivitis sicca2NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA160516400606416
HP:0000509HP:0001097Keratoconjunctivitis sicca2NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM167616400606416
HP:0000509HP:0001097Keratoconjunctivitis sicca2NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM160516400606416
HP:0000509HP:0001097Keratoconjunctivitis sicca2NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM167616400606416
HP:0000509HP:0001097Keratoconjunctivitis sicca2NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM160516400606416
HP:0000509HP:0001097Keratoconjunctivitis sicca2PIK3R1 CL E G H529533110ORPHA12628979171833
HP:0000509HP:0001097Keratoconjunctivitis sicca2PIK3R1 CL E G H529533110ORPHA13078979171833
HP:0000509HP:0001097Keratoconjunctivitis sicca2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11599071173350
HP:0000509HP:0001097Keratoconjunctivitis sicca2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM11659071173350
HP:0000509HP:0001097Keratoconjunctivitis sicca2POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13039181603968
HP:0000509HP:0001097Keratoconjunctivitis sicca2POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM13079181603968
HP:0000509HP:0001097Keratoconjunctivitis sicca2PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1329541602177
HP:0000509HP:0001097Keratoconjunctivitis sicca2PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1849541602177
HP:0000509HP:0001097Keratoconjunctivitis sicca2PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11219545177046
HP:0000509HP:0001097Keratoconjunctivitis sicca2PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11369545177046
HP:0000509HP:0001097Keratoconjunctivitis sicca2PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM1149546177045
HP:0000509HP:0001097Keratoconjunctivitis sicca2RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM14269831179615
HP:0000509HP:0001097Keratoconjunctivitis sicca2RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM14919831179615
HP:0000509HP:0001097Keratoconjunctivitis sicca2RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM13259832179616
HP:0000509HP:0001097Keratoconjunctivitis sicca2RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM12789832179616
HP:0000509HP:0001097Keratoconjunctivitis sicca2SAMD9 CL E G H54809610455Tumoral calcinosis, familial, normophosphatemic610455C1864861OMIM13681348610456
HP:0000509HP:0001097Keratoconjunctivitis sicca2SAMD9 CL E G H54809610455Tumoral calcinosis, familial, normophosphatemic610455C1864861OMIM11461348610456
HP:0000509HP:0001097Keratoconjunctivitis sicca2SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA148617129607059
HP:0000509HP:0001097Keratoconjunctivitis sicca2SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA144917129607059
HP:0000509HP:0001097Keratoconjunctivitis sicca2TCF3 CL E G H692933110ORPHA129011633147141
HP:0000509HP:0001097Keratoconjunctivitis sicca2TCF3 CL E G H692933110ORPHA114111633147141
HP:0000509HP:0001097Keratoconjunctivitis sicca2TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM132218153604907
HP:0000509HP:0001097Keratoconjunctivitis sicca2TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM128418153604907
HP:0000509HP:0001097Keratoconjunctivitis sicca2TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM110117755606269
HP:0000509HP:0001097Keratoconjunctivitis sicca2TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM112517755606269
HP:0000509HP:0001097Keratoconjunctivitis sicca2TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM144415979603273
HP:0000509HP:0001097Keratoconjunctivitis sicca2TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM137615979603273
HP:0000509HP:0001097Keratoconjunctivitis sicca2TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM144415979603273
HP:0000509HP:0001097Keratoconjunctivitis sicca2TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM137615979603273
HP:0000509HP:0001097Keratoconjunctivitis sicca2UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM115212592606938
HP:0000509HP:0001097Keratoconjunctivitis sicca2UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM113812592606938
HP:0000509HP:0001097Keratoconjunctivitis sicca2USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM118125792613276
HP:0000509HP:0001097Keratoconjunctivitis sicca2USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM111825792613276
HP:0000509HP:0001097Keratoconjunctivitis sicca2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM122112814611153
HP:0000509HP:0001097Keratoconjunctivitis sicca2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM123112814611153
HP:0000509HP:0001097Keratoconjunctivitis sicca2XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM154512816613208
HP:0000509HP:0001097Keratoconjunctivitis sicca2XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM151812816613208
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000509HP:0000509Conjunctivitis0FERMT1 CL E G H556122908ORPHA030115889607900
HP:0000509HP:0000509Conjunctivitis0FERMT1 CL E G H556122908ORPHA037215889607900
HP:0000509HP:0000509Conjunctivitis0GNAS CL E G H277879443ORPHA03714392139320
HP:0000509HP:0000509Conjunctivitis0GNAS CL E G H277894089ORPHA03714392139320
HP:0000509HP:0000509Conjunctivitis0GNAS CL E G H277879443ORPHA03334392139320
HP:0000509HP:0000509Conjunctivitis0GNAS CL E G H277894089ORPHA03334392139320
HP:0000509HP:0000509Conjunctivitis0GNAS CL E G H277879444ORPHA03714392139320
HP:0000509HP:0000509Conjunctivitis0GNAS CL E G H277879444ORPHA03334392139320
HP:0000509HP:0000509Conjunctivitis0HLA-B CL E G H310636426ORPHA0184932142830
HP:0000509HP:0000509Conjunctivitis0IGSF3 CL E G H3321149700Lacrimal duct defect149700C1835612OMIM0225950603491
HP:0000509HP:0000509Conjunctivitis0IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0000509HP:0000509Conjunctivitis0IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0000509HP:0000509Conjunctivitis0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000509HP:0000509Conjunctivitis0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000509HP:0000509Conjunctivitis0NLRC4 CL E G H5848447045ORPHA040916412606831
HP:0000509HP:0000509Conjunctivitis0NLRC4 CL E G H5848447045ORPHA032116412606831
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H11454847045ORPHA067616400606416
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H11454847045ORPHA060516400606416
HP:0000509HP:0000509Conjunctivitis0STX16 CL E G H867594089ORPHA018311431603666
HP:0000509HP:0000509Conjunctivitis0STX16 CL E G H867594089ORPHA018211431603666
HP:0000509HP:0000509Conjunctivitis0TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM019511763190010
HP:0000509HP:0000509Conjunctivitis0TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM027011763190010
HP:0000509HP:0000509Conjunctivitis0TNFRSF1A CL E G H713232960ORPHA039611916191190
HP:0000509HP:0000509Conjunctivitis0TNFRSF1A CL E G H713232960ORPHA035211916191190
HP:0000509HP:0000509Conjunctivitis0WAS CL E G H7454906ORPHA046312731300392
HP:0000509HP:0000509Conjunctivitis0WAS CL E G H7454906ORPHA041612731300392
HP:0000509HP:0000509Conjunctivitis0WIPF1 CL E G H7456906ORPHA019412736602357
HP:0000509HP:0000509Conjunctivitis0WIPF1 CL E G H7456906ORPHA015812736602357
HP:0000509HP:0001096Keratoconjunctivitis1FERMT1 CL E G H556122908ORPHA030115889607900
HP:0000509HP:0007717Chronic irritative conjunctivitis1FERMT1 CL E G H556122908ORPHA037215889607900
HP:0000509HP:0007717Chronic irritative conjunctivitis1FERMT1 CL E G H556122908ORPHA030115889607900
HP:0000509HP:0007879Allergic conjunctivitis1FERMT1 CL E G H556122908ORPHA037215889607900
HP:0000509HP:0001096Keratoconjunctivitis1FERMT1 CL E G H556122908ORPHA037215889607900
HP:0000509HP:0007879Allergic conjunctivitis1FERMT1 CL E G H556122908ORPHA030115889607900
HP:0000509HP:0007717Chronic irritative conjunctivitis1GNAS CL E G H277879444ORPHA03714392139320
HP:0000509HP:0007879Allergic conjunctivitis1GNAS CL E G H277879443ORPHA03714392139320
HP:0000509HP:0007879Allergic conjunctivitis1GNAS CL E G H277894089ORPHA03714392139320
HP:0000509HP:0001096Keratoconjunctivitis1GNAS CL E G H277879443ORPHA03714392139320
HP:0000509HP:0001096Keratoconjunctivitis1GNAS CL E G H277894089ORPHA03714392139320
HP:0000509HP:0007717Chronic irritative conjunctivitis1GNAS CL E G H277879444ORPHA03334392139320
HP:0000509HP:0007879Allergic conjunctivitis1GNAS CL E G H277879443ORPHA03334392139320
HP:0000509HP:0007879Allergic conjunctivitis1GNAS CL E G H277894089ORPHA03334392139320
HP:0000509HP:0001096Keratoconjunctivitis1GNAS CL E G H277879443ORPHA03334392139320
HP:0000509HP:0001096Keratoconjunctivitis1GNAS CL E G H277894089ORPHA03334392139320
HP:0000509HP:0007879Allergic conjunctivitis1GNAS CL E G H277879444ORPHA03714392139320
HP:0000509HP:0001096Keratoconjunctivitis1GNAS CL E G H277879444ORPHA03714392139320
HP:0000509HP:0007717Chronic irritative conjunctivitis1GNAS CL E G H277879443ORPHA03714392139320
HP:0000509HP:0007717Chronic irritative conjunctivitis1GNAS CL E G H277894089ORPHA03714392139320
HP:0000509HP:0007879Allergic conjunctivitis1GNAS CL E G H277879444ORPHA03334392139320
HP:0000509HP:0001096Keratoconjunctivitis1GNAS CL E G H277879444ORPHA03334392139320
HP:0000509HP:0007717Chronic irritative conjunctivitis1GNAS CL E G H277879443ORPHA03334392139320
HP:0000509HP:0007717Chronic irritative conjunctivitis1GNAS CL E G H277894089ORPHA03334392139320
HP:0000509HP:0007879Allergic conjunctivitis1HLA-B CL E G H310636426ORPHA0184932142830
HP:0000509HP:0001096Keratoconjunctivitis1HLA-B CL E G H310636426ORPHA0184932142830
HP:0000509HP:0007717Chronic irritative conjunctivitis1HLA-B CL E G H310636426ORPHA0184932142830
HP:0000509HP:0001096Keratoconjunctivitis1IGSF3 CL E G H3321149700Lacrimal duct defect149700C1835612OMIM0225950603491
HP:0000509HP:0007717Chronic irritative conjunctivitis1IGSF3 CL E G H3321149700Lacrimal duct defect149700C1835612OMIM0225950603491
HP:0000509HP:0007879Allergic conjunctivitis1IGSF3 CL E G H3321149700Lacrimal duct defect149700C1835612OMIM0225950603491
HP:0000509HP:0007717Chronic irritative conjunctivitis1IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0000509HP:0007717Chronic irritative conjunctivitis1IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0000509HP:0007879Allergic conjunctivitis1IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0000509HP:0001096Keratoconjunctivitis1IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0000509HP:0001096Keratoconjunctivitis1IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0000509HP:0007879Allergic conjunctivitis1IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0000509HP:0007879Allergic conjunctivitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000509HP:0001096Keratoconjunctivitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000509HP:0007879Allergic conjunctivitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000509HP:0001096Keratoconjunctivitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000509HP:0007717Chronic irritative conjunctivitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000509HP:0007717Chronic irritative conjunctivitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000509HP:0007879Allergic conjunctivitis1NLRC4 CL E G H5848447045ORPHA040916412606831
HP:0000509HP:0001096Keratoconjunctivitis1NLRC4 CL E G H5848447045ORPHA040916412606831
HP:0000509HP:0007879Allergic conjunctivitis1NLRC4 CL E G H5848447045ORPHA032116412606831
HP:0000509HP:0001096Keratoconjunctivitis1NLRC4 CL E G H5848447045ORPHA032116412606831
HP:0000509HP:0007717Chronic irritative conjunctivitis1NLRC4 CL E G H5848447045ORPHA040916412606831
HP:0000509HP:0007717Chronic irritative conjunctivitis1NLRC4 CL E G H5848447045ORPHA032116412606831
HP:0000509HP:0007717Chronic irritative conjunctivitis1NLRP3 CL E G H11454847045ORPHA067616400606416
HP:0000509HP:0007717Chronic irritative conjunctivitis1NLRP3 CL E G H11454847045ORPHA060516400606416
HP:0000509HP:0007879Allergic conjunctivitis1NLRP3 CL E G H11454847045ORPHA067616400606416
HP:0000509HP:0001096Keratoconjunctivitis1NLRP3 CL E G H11454847045ORPHA067616400606416
HP:0000509HP:0007879Allergic conjunctivitis1NLRP3 CL E G H11454847045ORPHA060516400606416
HP:0000509HP:0001096Keratoconjunctivitis1NLRP3 CL E G H11454847045ORPHA060516400606416
HP:0000509HP:0007717Chronic irritative conjunctivitis1STX16 CL E G H867594089ORPHA018311431603666
HP:0000509HP:0007717Chronic irritative conjunctivitis1STX16 CL E G H867594089ORPHA018211431603666
HP:0000509HP:0007879Allergic conjunctivitis1STX16 CL E G H867594089ORPHA018311431603666
HP:0000509HP:0001096Keratoconjunctivitis1STX16 CL E G H867594089ORPHA018311431603666
HP:0000509HP:0007879Allergic conjunctivitis1STX16 CL E G H867594089ORPHA018211431603666
HP:0000509HP:0001096Keratoconjunctivitis1STX16 CL E G H867594089ORPHA018211431603666
HP:0000509HP:0007879Allergic conjunctivitis1TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM019511763190010
HP:0000509HP:0001096Keratoconjunctivitis1TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM019511763190010
HP:0000509HP:0007717Chronic irritative conjunctivitis1TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM027011763190010
HP:0000509HP:0007717Chronic irritative conjunctivitis1TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM019511763190010
HP:0000509HP:0007879Allergic conjunctivitis1TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM027011763190010
HP:0000509HP:0001096Keratoconjunctivitis1TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM027011763190010
HP:0000509HP:0007717Chronic irritative conjunctivitis1TNFRSF1A CL E G H713232960ORPHA035211916191190
HP:0000509HP:0001096Keratoconjunctivitis1TNFRSF1A CL E G H713232960ORPHA039611916191190
HP:0000509HP:0007879Allergic conjunctivitis1TNFRSF1A CL E G H713232960ORPHA039611916191190
HP:0000509HP:0001096Keratoconjunctivitis1TNFRSF1A CL E G H713232960ORPHA035211916191190
HP:0000509HP:0007879Allergic conjunctivitis1TNFRSF1A CL E G H713232960ORPHA035211916191190
HP:0000509HP:0007717Chronic irritative conjunctivitis1TNFRSF1A CL E G H713232960ORPHA039611916191190
HP:0000509HP:0007879Allergic conjunctivitis1WAS CL E G H7454906ORPHA046312731300392
HP:0000509HP:0001096Keratoconjunctivitis1WAS CL E G H7454906ORPHA046312731300392
HP:0000509HP:0007879Allergic conjunctivitis1WAS CL E G H7454906ORPHA041612731300392
HP:0000509HP:0001096Keratoconjunctivitis1WAS CL E G H7454906ORPHA041612731300392
HP:0000509HP:0007717Chronic irritative conjunctivitis1WAS CL E G H7454906ORPHA046312731300392
HP:0000509HP:0007717Chronic irritative conjunctivitis1WAS CL E G H7454906ORPHA041612731300392
HP:0000509HP:0007717Chronic irritative conjunctivitis1WIPF1 CL E G H7456906ORPHA019412736602357
HP:0000509HP:0007717Chronic irritative conjunctivitis1WIPF1 CL E G H7456906ORPHA015812736602357
HP:0000509HP:0007879Allergic conjunctivitis1WIPF1 CL E G H7456906ORPHA019412736602357
HP:0000509HP:0001096Keratoconjunctivitis1WIPF1 CL E G H7456906ORPHA019412736602357
HP:0000509HP:0007879Allergic conjunctivitis1WIPF1 CL E G H7456906ORPHA015812736602357
HP:0000509HP:0001096Keratoconjunctivitis1WIPF1 CL E G H7456906ORPHA015812736602357
HP:0000509HP:0001097Keratoconjunctivitis sicca2FERMT1 CL E G H556122908ORPHA037215889607900
HP:0000509HP:0001097Keratoconjunctivitis sicca2FERMT1 CL E G H556122908ORPHA030115889607900
HP:0000509HP:0001097Keratoconjunctivitis sicca2GNAS CL E G H277879444ORPHA03714392139320
HP:0000509HP:0001097Keratoconjunctivitis sicca2GNAS CL E G H277879444ORPHA03334392139320
HP:0000509HP:0001097Keratoconjunctivitis sicca2GNAS CL E G H277894089ORPHA03714392139320
HP:0000509HP:0001097Keratoconjunctivitis sicca2GNAS CL E G H277879443ORPHA03714392139320
HP:0000509HP:0001097Keratoconjunctivitis sicca2GNAS CL E G H277879443ORPHA03334392139320
HP:0000509HP:0001097Keratoconjunctivitis sicca2GNAS CL E G H277894089ORPHA03334392139320
HP:0000509HP:0001097Keratoconjunctivitis sicca2HLA-B CL E G H310636426ORPHA0184932142830
HP:0000509HP:0001097Keratoconjunctivitis sicca2IGSF3 CL E G H3321149700Lacrimal duct defect149700C1835612OMIM0225950603491
HP:0000509HP:0001097Keratoconjunctivitis sicca2IKZF1 CL E G H1032036426ORPHA08513176603023
HP:0000509HP:0001097Keratoconjunctivitis sicca2IKZF1 CL E G H1032036426ORPHA06913176603023
HP:0000509HP:0001097Keratoconjunctivitis sicca2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA024215455300294
HP:0000509HP:0001097Keratoconjunctivitis sicca2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA023115455300294
HP:0000509HP:0001097Keratoconjunctivitis sicca2NLRC4 CL E G H5848447045ORPHA040916412606831
HP:0000509HP:0001097Keratoconjunctivitis sicca2NLRC4 CL E G H5848447045ORPHA032116412606831
HP:0000509HP:0001097Keratoconjunctivitis sicca2NLRP3 CL E G H11454847045ORPHA067616400606416
HP:0000509HP:0001097Keratoconjunctivitis sicca2NLRP3 CL E G H11454847045ORPHA060516400606416
HP:0000509HP:0001097Keratoconjunctivitis sicca2STX16 CL E G H867594089ORPHA018311431603666
HP:0000509HP:0001097Keratoconjunctivitis sicca2STX16 CL E G H867594089ORPHA018211431603666
HP:0000509HP:0001097Keratoconjunctivitis sicca2TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM027011763190010
HP:0000509HP:0001097Keratoconjunctivitis sicca2TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM019511763190010
HP:0000509HP:0001097Keratoconjunctivitis sicca2TNFRSF1A CL E G H713232960ORPHA035211916191190
HP:0000509HP:0001097Keratoconjunctivitis sicca2TNFRSF1A CL E G H713232960ORPHA039611916191190
HP:0000509HP:0001097Keratoconjunctivitis sicca2WAS CL E G H7454906ORPHA046312731300392
HP:0000509HP:0001097Keratoconjunctivitis sicca2WAS CL E G H7454906ORPHA041612731300392
HP:0000509HP:0001097Keratoconjunctivitis sicca2WIPF1 CL E G H7456906ORPHA019412736602357
HP:0000509HP:0001097Keratoconjunctivitis sicca2WIPF1 CL E G H7456906ORPHA015812736602357


Genes (83) :AIRE B2M BLNK BTD BTK BTNL2 C4A CCR1 CD19 CD79A CD79B COL7A1 CR2 DDB2 DKC1 DNASE1L3 ERAP1 ERCC2 ERCC6 ERF FAS FERMT1 FGFR2 FOXC2 FOXE3 GATA1 GJB2 GJB6 GNAS HLA-B HLA-DRB1 HLCS ICOS IGHM IGLL1 IGSF3 IKZF1 IL10 IL12A IL12A-AS1 IL23R KLRC4 LBR LMNA LRBA LRRC8A MBTPS2 MEFV MPLKIP NLRC4 NLRP1 NLRP3 PIK3R1 PITX3 PLG POLH PSMB4 PSMB8 PSMB9 RAG1 RAG2 RNF125 SAMD9 SCN9A SLC39A4 STAT4 STX16 TCF3 TFRC TLR4 TNFRSF13B TNFRSF13C TNFRSF1A TNXB TP63 UBAC2 UROS USB1 WAS WIPF1 XPA XPC ZMPSTE24

Diseases (69) :33110 253260 47 300755 307200 240500 613493 612692 226600 278740 305000 36412 278730 278800 207 2908 123500 33001 153400 129500 79444 94089 79443 36426 607594 601495 149700 614700 2273 308800 47045 575 191900 120100 217090 278750 617591 256040 601457 610455 37 616740 32960 103285 106260 263700 604173 906 278700 278720 240300 79241 79277 79242 97231 69085 314652 797 117 601675 88632 148210 779 740 234050 617388 616260 133020 285
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.