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 H2976033110ORPHA1317014211604515
HP:0000509HP:0000509Conjunctivitis0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12484501122609019
HP:0000509HP:0000509Conjunctivitis0BTK CL E G H69547ORPHA19104951133300300
HP:0000509HP:0000509Conjunctivitis0BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM19104951133300300
HP:0000509HP:0000509Conjunctivitis0BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM19104951133300300
HP:0000509HP:0000509Conjunctivitis0CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM1102201633107265
HP:0000509HP:0000509Conjunctivitis0CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM1102201633107265
HP:0000509HP:0000509Conjunctivitis0CD79A CL E G H97333110ORPHA18811698112205
HP:0000509HP:0000509Conjunctivitis0CD79B CL E G H97433110ORPHA13801699147245
HP:0000509HP:0000509Conjunctivitis0CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM13801699147245
HP:0000509HP:0000509Conjunctivitis0COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM182816442214120120
HP:0000509HP:0000509Conjunctivitis0CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM1193582336120650
HP:0000509HP:0000509Conjunctivitis0DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM117942718600811
HP:0000509HP:0000509Conjunctivitis0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753942890300126
HP:0000509HP:0000509Conjunctivitis0DNASE1L3 CL E G H177636412ORPHA110442959602244
HP:0000509HP:0000509Conjunctivitis0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11083193434126340
HP:0000509HP:0000509Conjunctivitis0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM11408153438609413
HP:0000509HP:0000509Conjunctivitis0ERF CL E G H2077207EchinococcosisORPHA1191023444611888
HP:0000509HP:0000509Conjunctivitis0FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM11594463689176943
HP:0000509HP:0000509Conjunctivitis0FGFR2 CL E G H2263207EchinococcosisORPHA11594463689176943
HP:0000509HP:0000509Conjunctivitis0FOXC2 CL E G H230333001ORPHA1971093801602402
HP:0000509HP:0000509Conjunctivitis0FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM1971093801602402
HP:0000509HP:0000509Conjunctivitis0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM1342004288604418
HP:0000509HP:0000509Conjunctivitis0ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM161375351604558
HP:0000509HP:0000509Conjunctivitis0ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM161375351604558
HP:0000509HP:0000509Conjunctivitis0IGHM CL E G H350733110ORPHA117815541147020
HP:0000509HP:0000509Conjunctivitis0IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM117815541147020
HP:0000509HP:0000509Conjunctivitis0IGLL1 CL E G H354333110ORPHA132335870146770
HP:0000509HP:0000509Conjunctivitis0LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM1689751742606453
HP:0000509HP:0000509Conjunctivitis0LRRC8A CL E G H5626233110ORPHA139519027608360
HP:0000509HP:0000509Conjunctivitis0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM12622815455300294
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA114258316400606416
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM114258316400606416
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM114258316400606416
HP:0000509HP:0000509Conjunctivitis0PIK3R1 CL E G H529533110ORPHA1292588979171833
HP:0000509HP:0000509Conjunctivitis0PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM1781579071173350
HP:0000509HP:0000509Conjunctivitis0POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM1802999181603968
HP:0000509HP:0000509Conjunctivitis0PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15319541602177
HP:0000509HP:0000509Conjunctivitis0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM1111209545177046
HP:0000509HP:0000509Conjunctivitis0PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15139546177045
HP:0000509HP:0000509Conjunctivitis0RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM11874239831179615
HP:0000509HP:0000509Conjunctivitis0RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM1842769832179616
HP:0000509HP:0000509Conjunctivitis0SAMD9 CL E G H54809610455Tumoral calcinosis, familial, normophosphatemic610455C1864861OMIM1271331348610456
HP:0000509HP:0000509Conjunctivitis0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA15244817129607059
HP:0000509HP:0000509Conjunctivitis0TCF3 CL E G H692933110ORPHA1514111633147141
HP:0000509HP:0000509Conjunctivitis0TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM15028118153604907
HP:0000509HP:0000509Conjunctivitis0TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM1310117755606269
HP:0000509HP:0000509Conjunctivitis0TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM112836915979603273
HP:0000509HP:0000509Conjunctivitis0TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM112836915979603273
HP:0000509HP:0000509Conjunctivitis0UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM15113812592606938
HP:0000509HP:0000509Conjunctivitis0USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM12211625792613276
HP:0000509HP:0000509Conjunctivitis0XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM15121412814611153
HP:0000509HP:0000509Conjunctivitis0XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM110050512816613208
HP:0000509HP:0000509Conjunctivitis1BLNK CL E G H2976033110ORPHA1317014211604515
HP:0000509HP:0000509Conjunctivitis1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12484501122609019
HP:0000509HP:0000509Conjunctivitis1BTK CL E G H69547ORPHA19104951133300300
HP:0000509HP:0000509Conjunctivitis1BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM19104951133300300
HP:0000509HP:0000509Conjunctivitis1BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM19104951133300300
HP:0000509HP:0000509Conjunctivitis1CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM1102201633107265
HP:0000509HP:0000509Conjunctivitis1CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM1102201633107265
HP:0000509HP:0000509Conjunctivitis1CD79A CL E G H97333110ORPHA18811698112205
HP:0000509HP:0000509Conjunctivitis1CD79B CL E G H97433110ORPHA13801699147245
HP:0000509HP:0000509Conjunctivitis1CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM13801699147245
HP:0000509HP:0000509Conjunctivitis1COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM182816442214120120
HP:0000509HP:0000509Conjunctivitis1CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM1193582336120650
HP:0000509HP:0000509Conjunctivitis1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM117942718600811
HP:0000509HP:0000509Conjunctivitis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753942890300126
HP:0000509HP:0000509Conjunctivitis1DNASE1L3 CL E G H177636412ORPHA110442959602244
HP:0000509HP:0000509Conjunctivitis1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11083193434126340
HP:0000509HP:0000509Conjunctivitis1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM11408153438609413
HP:0000509HP:0000509Conjunctivitis1ERF CL E G H2077207EchinococcosisORPHA1191023444611888
HP:0000509HP:0000509Conjunctivitis1FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM11594463689176943
HP:0000509HP:0000509Conjunctivitis1FGFR2 CL E G H2263207EchinococcosisORPHA11594463689176943
HP:0000509HP:0000509Conjunctivitis1FOXC2 CL E G H230333001ORPHA1971093801602402
HP:0000509HP:0000509Conjunctivitis1FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM1971093801602402
HP:0000509HP:0000509Conjunctivitis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM1342004288604418
HP:0000509HP:0000509Conjunctivitis1ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM161375351604558
HP:0000509HP:0000509Conjunctivitis1ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM161375351604558
HP:0000509HP:0000509Conjunctivitis1IGHM CL E G H350733110ORPHA117815541147020
HP:0000509HP:0000509Conjunctivitis1IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM117815541147020
HP:0000509HP:0000509Conjunctivitis1IGLL1 CL E G H354333110ORPHA132335870146770
HP:0000509HP:0000509Conjunctivitis1LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM1689751742606453
HP:0000509HP:0000509Conjunctivitis1LRRC8A CL E G H5626233110ORPHA139519027608360
HP:0000509HP:0000509Conjunctivitis1MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM12622815455300294
HP:0000509HP:0000509Conjunctivitis1NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA114258316400606416
HP:0000509HP:0000509Conjunctivitis1NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM114258316400606416
HP:0000509HP:0000509Conjunctivitis1NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM114258316400606416
HP:0000509HP:0000509Conjunctivitis1PIK3R1 CL E G H529533110ORPHA1292588979171833
HP:0000509HP:0000509Conjunctivitis1PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM1781579071173350
HP:0000509HP:0000509Conjunctivitis1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM1802999181603968
HP:0000509HP:0000509Conjunctivitis1PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15319541602177
HP:0000509HP:0000509Conjunctivitis1PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM1111209545177046
HP:0000509HP:0000509Conjunctivitis1PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15139546177045
HP:0000509HP:0000509Conjunctivitis1RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM11874239831179615
HP:0000509HP:0000509Conjunctivitis1RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM1842769832179616
HP:0000509HP:0000509Conjunctivitis1SAMD9 CL E G H54809610455Tumoral calcinosis, familial, normophosphatemic610455C1864861OMIM1271331348610456
HP:0000509HP:0000509Conjunctivitis1SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA15244817129607059
HP:0000509HP:0000509Conjunctivitis1TCF3 CL E G H692933110ORPHA1514111633147141
HP:0000509HP:0000509Conjunctivitis1TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM15028118153604907
HP:0000509HP:0000509Conjunctivitis1TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM1310117755606269
HP:0000509HP:0000509Conjunctivitis1TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM112836915979603273
HP:0000509HP:0000509Conjunctivitis1TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM112836915979603273
HP:0000509HP:0000509Conjunctivitis1UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM15113812592606938
HP:0000509HP:0000509Conjunctivitis1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM12211625792613276
HP:0000509HP:0000509Conjunctivitis1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM15121412814611153
HP:0000509HP:0000509Conjunctivitis1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM110050512816613208
HP:0000509HP:0000509Conjunctivitis2BLNK CL E G H2976033110ORPHA1317014211604515
HP:0000509HP:0000509Conjunctivitis2BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12484501122609019
HP:0000509HP:0000509Conjunctivitis2BTK CL E G H69547ORPHA19104951133300300
HP:0000509HP:0000509Conjunctivitis2BTK CL E G H695300755X-linked agammaglobulinemia300755C0221026OMIM19104951133300300
HP:0000509HP:0000509Conjunctivitis2BTK CL E G H695307200X-linked agammaglobulinemia with growth hormone deficiency307200C0472813OMIM19104951133300300
HP:0000509HP:0000509Conjunctivitis2CD19 CL E G H930240500Common variable immunodeficiency 2240500C3150354OMIM1102201633107265
HP:0000509HP:0000509Conjunctivitis2CD19 CL E G H930613493Common variable immunodeficiency 3613493C3150738OMIM1102201633107265
HP:0000509HP:0000509Conjunctivitis2CD79A CL E G H97333110ORPHA18811698112205
HP:0000509HP:0000509Conjunctivitis2CD79B CL E G H97433110ORPHA13801699147245
HP:0000509HP:0000509Conjunctivitis2CD79B CL E G H974612692Agammaglobulinemia 6, autosomal recessive612692C3150207OMIM13801699147245
HP:0000509HP:0000509Conjunctivitis2COL7A1 CL E G H1294226600Recessive dystrophic epidermolysis bullosa226600C0079474OMIM182816442214120120
HP:0000509HP:0000509Conjunctivitis2CR2 CL E G H1380240500Common variable immunodeficiency 2240500C3150354OMIM1193582336120650
HP:0000509HP:0000509Conjunctivitis2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM117942718600811
HP:0000509HP:0000509Conjunctivitis2DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1753942890300126
HP:0000509HP:0000509Conjunctivitis2DNASE1L3 CL E G H177636412ORPHA110442959602244
HP:0000509HP:0000509Conjunctivitis2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11083193434126340
HP:0000509HP:0000509Conjunctivitis2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM11408153438609413
HP:0000509HP:0000509Conjunctivitis2ERF CL E G H2077207EchinococcosisORPHA1191023444611888
HP:0000509HP:0000509Conjunctivitis2FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM11594463689176943
HP:0000509HP:0000509Conjunctivitis2FGFR2 CL E G H2263207EchinococcosisORPHA11594463689176943
HP:0000509HP:0000509Conjunctivitis2FOXC2 CL E G H230333001ORPHA1971093801602402
HP:0000509HP:0000509Conjunctivitis2FOXC2 CL E G H2303153400Distichiasis-lymphedema syndrome153400C0265345OMIM1971093801602402
HP:0000509HP:0000509Conjunctivitis2GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM1342004288604418
HP:0000509HP:0000509Conjunctivitis2ICOS CL E G H29851607594Common variable immunodeficiency 1607594C3149378OMIM161375351604558
HP:0000509HP:0000509Conjunctivitis2ICOS CL E G H29851240500Common variable immunodeficiency 2240500C3150354OMIM161375351604558
HP:0000509HP:0000509Conjunctivitis2IGHM CL E G H350733110ORPHA117815541147020
HP:0000509HP:0000509Conjunctivitis2IGHM CL E G H3507601495Agammaglobulinemia, non-Bruton type601495C1832241OMIM117815541147020
HP:0000509HP:0000509Conjunctivitis2IGLL1 CL E G H354333110ORPHA132335870146770
HP:0000509HP:0000509Conjunctivitis2LRBA CL E G H987614700Common variable immunodeficiency 8, with autoimmunity614700C3553512OMIM1689751742606453
HP:0000509HP:0000509Conjunctivitis2LRRC8A CL E G H5626233110ORPHA139519027608360
HP:0000509HP:0000509Conjunctivitis2MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM12622815455300294
HP:0000509HP:0000509Conjunctivitis2NLRP3 CL E G H114548575Aicardi Goutieres syndromeC0393591ORPHA114258316400606416
HP:0000509HP:0000509Conjunctivitis2NLRP3 CL E G H114548191900Familial amyloid nephropathy with urticaria AND deafness191900C0268390OMIM114258316400606416
HP:0000509HP:0000509Conjunctivitis2NLRP3 CL E G H114548120100Familial cold urticaria120100C0343068OMIM114258316400606416
HP:0000509HP:0000509Conjunctivitis2PIK3R1 CL E G H529533110ORPHA1292588979171833
HP:0000509HP:0000509Conjunctivitis2PLG CL E G H5340217090Plasminogen deficiency, type I217090C1968804OMIM1781579071173350
HP:0000509HP:0000509Conjunctivitis2POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM1802999181603968
HP:0000509HP:0000509Conjunctivitis2PSMB4 CL E G H5692617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15319541602177
HP:0000509HP:0000509Conjunctivitis2PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM1111209545177046
HP:0000509HP:0000509Conjunctivitis2PSMB9 CL E G H5698617591PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3617591CN252341OMIM15139546177045
HP:0000509HP:0000509Conjunctivitis2RAG1 CL E G H5896601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM11874239831179615
HP:0000509HP:0000509Conjunctivitis2RAG2 CL E G H5897601457Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive601457C1832322OMIM1842769832179616
HP:0000509HP:0000509Conjunctivitis2SAMD9 CL E G H54809610455Tumoral calcinosis, familial, normophosphatemic610455C1864861OMIM1271331348610456
HP:0000509HP:0000509Conjunctivitis2SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA15244817129607059
HP:0000509HP:0000509Conjunctivitis2TCF3 CL E G H692933110ORPHA1514111633147141
HP:0000509HP:0000509Conjunctivitis2TNFRSF13B CL E G H23495240500Common variable immunodeficiency 2240500C3150354OMIM15028118153604907
HP:0000509HP:0000509Conjunctivitis2TNFRSF13C CL E G H115650240500Common variable immunodeficiency 2240500C3150354OMIM1310117755606269
HP:0000509HP:0000509Conjunctivitis2TP63 CL E G H8626103285ADULT syndrome103285C1863204OMIM112836915979603273
HP:0000509HP:0000509Conjunctivitis2TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM112836915979603273
HP:0000509HP:0000509Conjunctivitis2UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM15113812592606938
HP:0000509HP:0000509Conjunctivitis2USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM12211625792613276
HP:0000509HP:0000509Conjunctivitis2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM15121412814611153
HP:0000509HP:0000509Conjunctivitis2XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM110050512816613208
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000509HP:0000509Conjunctivitis0FERMT1 CL E G H556122908ORPHA08329815889607900
HP:0000509HP:0000509Conjunctivitis0GNAS CL E G H277879444ORPHA02793134392139320
HP:0000509HP:0000509Conjunctivitis0GNAS CL E G H277894089ORPHA02793134392139320
HP:0000509HP:0000509Conjunctivitis0GNAS CL E G H277879443ORPHA02793134392139320
HP:0000509HP:0000509Conjunctivitis0HLA-B CL E G H310636426ORPHA053174932142830
HP:0000509HP:0000509Conjunctivitis0IGSF3 CL E G H3321149700Lacrimal duct defect149700C1835612OMIM02225950603491
HP:0000509HP:0000509Conjunctivitis0IKZF1 CL E G H1032036426ORPHA0386613176603023
HP:0000509HP:0000509Conjunctivitis0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02622815455300294
HP:0000509HP:0000509Conjunctivitis0NLRC4 CL E G H5848447045ORPHA0931816412606831
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H11454847045ORPHA014258316400606416
HP:0000509HP:0000509Conjunctivitis0STX16 CL E G H867594089ORPHA0618211431603666
HP:0000509HP:0000509Conjunctivitis0TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM0319311763190010
HP:0000509HP:0000509Conjunctivitis0TNFRSF1A CL E G H713232960ORPHA010935011916191190
HP:0000509HP:0000509Conjunctivitis0WAS CL E G H7454906ORPHA044141212731300392
HP:0000509HP:0000509Conjunctivitis0WIPF1 CL E G H7456906ORPHA0315812736602357
HP:0000509HP:0000509Conjunctivitis1FERMT1 CL E G H556122908ORPHA08329815889607900
HP:0000509HP:0000509Conjunctivitis1GNAS CL E G H277894089ORPHA02793134392139320
HP:0000509HP:0000509Conjunctivitis1GNAS CL E G H277879443ORPHA02793134392139320
HP:0000509HP:0000509Conjunctivitis1GNAS CL E G H277879444ORPHA02793134392139320
HP:0000509HP:0000509Conjunctivitis1HLA-B CL E G H310636426ORPHA053174932142830
HP:0000509HP:0000509Conjunctivitis1IGSF3 CL E G H3321149700Lacrimal duct defect149700C1835612OMIM02225950603491
HP:0000509HP:0000509Conjunctivitis1IKZF1 CL E G H1032036426ORPHA0386613176603023
HP:0000509HP:0000509Conjunctivitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02622815455300294
HP:0000509HP:0000509Conjunctivitis1NLRC4 CL E G H5848447045ORPHA0931816412606831
HP:0000509HP:0000509Conjunctivitis1NLRP3 CL E G H11454847045ORPHA014258316400606416
HP:0000509HP:0000509Conjunctivitis1STX16 CL E G H867594089ORPHA0618211431603666
HP:0000509HP:0000509Conjunctivitis1TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM0319311763190010
HP:0000509HP:0000509Conjunctivitis1TNFRSF1A CL E G H713232960ORPHA010935011916191190
HP:0000509HP:0000509Conjunctivitis1WAS CL E G H7454906ORPHA044141212731300392
HP:0000509HP:0000509Conjunctivitis1WIPF1 CL E G H7456906ORPHA0315812736602357
HP:0000509HP:0000509Conjunctivitis2FERMT1 CL E G H556122908ORPHA08329815889607900
HP:0000509HP:0000509Conjunctivitis2GNAS CL E G H277894089ORPHA02793134392139320
HP:0000509HP:0000509Conjunctivitis2GNAS CL E G H277879443ORPHA02793134392139320
HP:0000509HP:0000509Conjunctivitis2GNAS CL E G H277879444ORPHA02793134392139320
HP:0000509HP:0000509Conjunctivitis2HLA-B CL E G H310636426ORPHA053174932142830
HP:0000509HP:0000509Conjunctivitis2IGSF3 CL E G H3321149700Lacrimal duct defect149700C1835612OMIM02225950603491
HP:0000509HP:0000509Conjunctivitis2IKZF1 CL E G H1032036426ORPHA0386613176603023
HP:0000509HP:0000509Conjunctivitis2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02622815455300294
HP:0000509HP:0000509Conjunctivitis2NLRC4 CL E G H5848447045ORPHA0931816412606831
HP:0000509HP:0000509Conjunctivitis2NLRP3 CL E G H11454847045ORPHA014258316400606416
HP:0000509HP:0000509Conjunctivitis2STX16 CL E G H867594089ORPHA0618211431603666
HP:0000509HP:0000509Conjunctivitis2TFRC CL E G H7037616740Immunodeficiency 46616740C4225219OMIM0319311763190010
HP:0000509HP:0000509Conjunctivitis2TNFRSF1A CL E G H713232960ORPHA010935011916191190
HP:0000509HP:0000509Conjunctivitis2WAS CL E G H7454906ORPHA044141212731300392
HP:0000509HP:0000509Conjunctivitis2WIPF1 CL E G H7456906ORPHA0315812736602357


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 June 2019 release.