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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000509HP:0000509Conjunctivitis0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0000509HP:0000509Conjunctivitis0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000509HP:0000509Conjunctivitis0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0000509HP:0000509Conjunctivitis0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent4
HP:0000509HP:0000509Conjunctivitis0BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040283 - Occasional223
HP:0000509HP:0000509Conjunctivitis0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0000509HP:0000509Conjunctivitis0BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked.109
HP:0000509HP:0000509Conjunctivitis0BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia109
HP:0000509HP:0000509Conjunctivitis0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0000509HP:0000509Conjunctivitis0BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0000509HP:0000509Conjunctivitis0C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0000509HP:0000509Conjunctivitis0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000509HP:0000509Conjunctivitis0CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0000509HP:0000509Conjunctivitis0CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 2.38
HP:0000509HP:0000509Conjunctivitis0CD19 CL E G H9301633OMIM:613493IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID338
HP:0000509HP:0000509Conjunctivitis0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent9
HP:0000509HP:0000509Conjunctivitis0CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive.6
HP:0000509HP:0000509Conjunctivitis0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent6
HP:0000509HP:0000509Conjunctivitis0COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophy129
HP:0000509HP:0000509Conjunctivitis0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0000509HP:0000509Conjunctivitis0CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 2.10
HP:0000509HP:0000509Conjunctivitis0DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E.30
HP:0000509HP:0000509Conjunctivitis0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0000509HP:0000509Conjunctivitis0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040282 - Frequent3
HP:0000509HP:0000509Conjunctivitis0ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0000509HP:0000509Conjunctivitis0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0000509HP:0000509Conjunctivitis0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000509HP:0000509Conjunctivitis0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0000509HP:0000509Conjunctivitis0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0000509HP:0000509Conjunctivitis0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000509HP:0000509Conjunctivitis0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0000509HP:0000509Conjunctivitis0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0000509HP:0000509Conjunctivitis0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0000509HP:0000509Conjunctivitis0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0000509HP:0000509Conjunctivitis0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0000509HP:0000509Conjunctivitis0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0000509HP:0000509Conjunctivitis0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0000509HP:0000509Conjunctivitis0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0000509HP:0000509Conjunctivitis0ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040282 - Frequent12
HP:0000509HP:0000509Conjunctivitis0FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0000509HP:0000509Conjunctivitis0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000509HP:0000509Conjunctivitis0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040283 - Occasional136
HP:0000509HP:0000509Conjunctivitis0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0000509HP:0000509Conjunctivitis0FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040282 - Frequent175
HP:0000509HP:0000509Conjunctivitis0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome.175
HP:0000509HP:0000509Conjunctivitis0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0000509HP:0000509Conjunctivitis0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0000509HP:0000509Conjunctivitis0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome.20
HP:0000509HP:0000509Conjunctivitis0FOXC2 CL E G H23033801ORPHA:33001Lymphedema-distichiasis syndromeHP:0040281 - Very frequent20
HP:0000509HP:0000509Conjunctivitis0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0000509HP:0000509Conjunctivitis0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0000509HP:0000509Conjunctivitis0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0000509HP:0000509Conjunctivitis0GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0000509HP:0000509Conjunctivitis0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0000509HP:0000509Conjunctivitis0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0000509HP:0000509Conjunctivitis0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0000509HP:0000509Conjunctivitis0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0000509HP:0000509Conjunctivitis0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0000509HP:0000509Conjunctivitis0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000509HP:0000509Conjunctivitis0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000509HP:0000509Conjunctivitis0HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0000509HP:0000509Conjunctivitis0HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040281 - Very frequent4
HP:0000509HP:0000509Conjunctivitis0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional4
HP:0000509HP:0000509Conjunctivitis0HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0000509HP:0000509Conjunctivitis0HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiency148
HP:0000509HP:0000509Conjunctivitis0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0000509HP:0000509Conjunctivitis0ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 1.32
HP:0000509HP:0000509Conjunctivitis0ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 2.32
HP:0000509HP:0000509Conjunctivitis0IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0000509HP:0000509Conjunctivitis0IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive.7
HP:0000509HP:0000509Conjunctivitis0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent7
HP:0000509HP:0000509Conjunctivitis0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0000509HP:0000509Conjunctivitis0IGSF3 CL E G H33215950OMIM:149700Lacrimal duct defectHP:0040283 - Occasional3
HP:0000509HP:0000509Conjunctivitis0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional8
HP:0000509HP:0000509Conjunctivitis0IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0000509HP:0000509Conjunctivitis0IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0000509HP:0000509Conjunctivitis0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0000509HP:0000509Conjunctivitis0IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0000509HP:0000509Conjunctivitis0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000509HP:0000509Conjunctivitis0KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0000509HP:0000509Conjunctivitis0LBR CL E G H39306518ORPHA:779Reynolds syndrome70
HP:0000509HP:0000509Conjunctivitis0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0000509HP:0000509Conjunctivitis0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0000509HP:0000509Conjunctivitis0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000509HP:0000509Conjunctivitis0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0000509HP:0000509Conjunctivitis0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0000509HP:0000509Conjunctivitis0MEFV CL E G H42106998ORPHA:117Behçet disease281
HP:0000509HP:0000509Conjunctivitis0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0000509HP:0000509Conjunctivitis0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000509HP:0000509Conjunctivitis0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0000509HP:0000509Conjunctivitis0MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0000509HP:0000509Conjunctivitis0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H11454816400OMIM:617772Deafness, autosomal dominant 34, with or without inflammation.217
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H11454816400ORPHA:47045Familial cold urticariaHP:0040283 - Occasional217
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0000509HP:0000509Conjunctivitis0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040281 - Very frequent217
HP:0000509HP:0000509Conjunctivitis0NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0000509HP:0000509Conjunctivitis0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0000509HP:0000509Conjunctivitis0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent43
HP:0000509HP:0000509Conjunctivitis0PLG CL E G H53409071OMIM:217090Plasminogen deficiency, type iligneous conjunctivitis, included.11
HP:0000509HP:0000509Conjunctivitis0POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type.155
HP:0000509HP:0000509Conjunctivitis0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0000509HP:0000509Conjunctivitis0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0000509HP:0000509Conjunctivitis0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0000509HP:0000509Conjunctivitis0RAG1 CL E G H58969831OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.127
HP:0000509HP:0000509Conjunctivitis0RAG2 CL E G H58979832OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.50
HP:0000509HP:0000509Conjunctivitis0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000509HP:0000509Conjunctivitis0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome5
HP:0000509HP:0000509Conjunctivitis0SAMD9 CL E G H548091348OMIM:610455Tumoral calcinosis, normophosphatemic, familial.8
HP:0000509HP:0000509Conjunctivitis0SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary318
HP:0000509HP:0000509Conjunctivitis0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040282 - Frequent55
HP:0000509HP:0000509Conjunctivitis0SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0000509HP:0000509Conjunctivitis0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary1
HP:0000509HP:0000509Conjunctivitis0STAT4 CL E G H677511365ORPHA:117Behçet disease2
HP:0000509HP:0000509Conjunctivitis0STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0000509HP:0000509Conjunctivitis0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0000509HP:0000509Conjunctivitis0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000509HP:0000509Conjunctivitis0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent2
HP:0000509HP:0000509Conjunctivitis0TFRC CL E G H703711763OMIM:616740Immunodeficiency 461
HP:0000509HP:0000509Conjunctivitis0TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040283 - Occasional4
HP:0000509HP:0000509Conjunctivitis0TLR4 CL E G H709911850ORPHA:117Behçet disease3
HP:0000509HP:0000509Conjunctivitis0TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 2.32
HP:0000509HP:0000509Conjunctivitis0TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 2.12
HP:0000509HP:0000509Conjunctivitis0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0000509HP:0000509Conjunctivitis0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040283 - Occasional131
HP:0000509HP:0000509Conjunctivitis0TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0000509HP:0000509Conjunctivitis0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0000509HP:0000509Conjunctivitis0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0000509HP:0000509Conjunctivitis0UBAC2 CL E G H33786720486ORPHA:117Behçet disease
HP:0000509HP:0000509Conjunctivitis0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0000509HP:0000509Conjunctivitis0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0000509HP:0000509Conjunctivitis0UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0000509HP:0000509Conjunctivitis0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia.8
HP:0000509HP:0000509Conjunctivitis0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040283 - Occasional1
HP:0000509HP:0000509Conjunctivitis0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional65
HP:0000509HP:0000509Conjunctivitis0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional6
HP:0000509HP:0000509Conjunctivitis0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0000509HP:0000509Conjunctivitis0XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86
HP:0000509HP:0007879Allergic conjunctivitis1 CL E G H
HP:0000509HP:0001096Keratoconjunctivitis1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0000509HP:0001096Keratoconjunctivitis1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000509HP:0001096Keratoconjunctivitis1BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0000509HP:0001096Keratoconjunctivitis1C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0000509HP:0001096Keratoconjunctivitis1CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0000509HP:0001096Keratoconjunctivitis1CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0000509HP:0001096Keratoconjunctivitis1COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophy129
HP:0000509HP:0001096Keratoconjunctivitis1ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0000509HP:0001096Keratoconjunctivitis1ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0000509HP:0001096Keratoconjunctivitis1ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0000509HP:0001096Keratoconjunctivitis1ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D106
HP:0000509HP:0001096Keratoconjunctivitis1ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0000509HP:0001096Keratoconjunctivitis1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0000509HP:0001096Keratoconjunctivitis1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0000509HP:0001096Keratoconjunctivitis1FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0000509HP:0001096Keratoconjunctivitis1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000509HP:0001096Keratoconjunctivitis1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0000509HP:0001096Keratoconjunctivitis1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0000509HP:0001096Keratoconjunctivitis1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0000509HP:0001096Keratoconjunctivitis1GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040284 - Very rare29
HP:0000509HP:0001096Keratoconjunctivitis1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0000509HP:0001096Keratoconjunctivitis1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0000509HP:0001096Keratoconjunctivitis1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0000509HP:0001096Keratoconjunctivitis1GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0000509HP:0001096Keratoconjunctivitis1GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0000509HP:0001096Keratoconjunctivitis1GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0000509HP:0001096Keratoconjunctivitis1HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0000509HP:0001096Keratoconjunctivitis1HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0000509HP:0001096Keratoconjunctivitis1HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiencyHP:0040281 - Very frequent148
HP:0000509HP:0001096Keratoconjunctivitis1IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0000509HP:0001096Keratoconjunctivitis1IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0000509HP:0001096Keratoconjunctivitis1IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0000509HP:0001096Keratoconjunctivitis1IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0000509HP:0001096Keratoconjunctivitis1IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0000509HP:0001096Keratoconjunctivitis1IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0000509HP:0001096Keratoconjunctivitis1KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0000509HP:0001096Keratoconjunctivitis1LBR CL E G H39306518ORPHA:779Reynolds syndrome70
HP:0000509HP:0001096Keratoconjunctivitis1MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0000509HP:0001096Keratoconjunctivitis1MEFV CL E G H42106998ORPHA:117Behçet disease281
HP:0000509HP:0001096Keratoconjunctivitis1MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0000509HP:0001096Keratoconjunctivitis1MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0000509HP:0001096Keratoconjunctivitis1MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0000509HP:0001096Keratoconjunctivitis1NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0000509HP:0001096Keratoconjunctivitis1NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0000509HP:0001096Keratoconjunctivitis1RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0000509HP:0001096Keratoconjunctivitis1RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome5
HP:0000509HP:0001096Keratoconjunctivitis1SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary318
HP:0000509HP:0001096Keratoconjunctivitis1SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0000509HP:0001096Keratoconjunctivitis1SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary.1
HP:0000509HP:0001096Keratoconjunctivitis1STAT4 CL E G H677511365ORPHA:117Behçet disease2
HP:0000509HP:0001096Keratoconjunctivitis1TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0000509HP:0001096Keratoconjunctivitis1TLR4 CL E G H709911850ORPHA:117Behçet disease3
HP:0000509HP:0007717Chronic irritative conjunctivitis1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040283 - Occasional140
HP:0000509HP:0001096Keratoconjunctivitis1UBAC2 CL E G H33786720486ORPHA:117Behçet disease
HP:0000509HP:0001096Keratoconjunctivitis1UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040284 - Very rare31
HP:0000509HP:0001096Keratoconjunctivitis1UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040284 - Very rare41
HP:0000509HP:0001097Keratoconjunctivitis sicca2AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0000509HP:0001097Keratoconjunctivitis sicca2BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0000509HP:0001097Keratoconjunctivitis sicca2C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0000509HP:0001097Keratoconjunctivitis sicca2CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000509HP:0001097Keratoconjunctivitis sicca2CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000509HP:0001097Keratoconjunctivitis sicca2COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophyHP:0040283 - Occasional129
HP:0000509HP:0001097Keratoconjunctivitis sicca2ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0000509HP:0001097Keratoconjunctivitis sicca2ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000509HP:0001097Keratoconjunctivitis sicca2ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitiveHP:0040283 - Occasional106
HP:0000509HP:0001097Keratoconjunctivitis sicca2ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group DHP:0040283 - Occasional106
HP:0000509HP:0001097Keratoconjunctivitis sicca2ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000509HP:0001097Keratoconjunctivitis sicca2ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare199
HP:0000509HP:0001097Keratoconjunctivitis sicca2ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare55
HP:0000509HP:0001097Keratoconjunctivitis sicca2FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0000509HP:0001097Keratoconjunctivitis sicca2FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0000509HP:0001097Keratoconjunctivitis sicca2FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent17
HP:0000509HP:0001097Keratoconjunctivitis sicca2FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent175
HP:0000509HP:0001097Keratoconjunctivitis sicca2FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent145
HP:0000509HP:0001097Keratoconjunctivitis sicca2GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0000509HP:0001097Keratoconjunctivitis sicca2GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0000509HP:0001097Keratoconjunctivitis sicca2GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0000509HP:0001097Keratoconjunctivitis sicca2GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040281 - Very frequent53
HP:0000509HP:0001097Keratoconjunctivitis sicca2GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000509HP:0001097Keratoconjunctivitis sicca2GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000509HP:0001097Keratoconjunctivitis sicca2HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0000509HP:0001097Keratoconjunctivitis sicca2HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0000509HP:0001097Keratoconjunctivitis sicca2IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0000509HP:0001097Keratoconjunctivitis sicca2IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0000509HP:0001097Keratoconjunctivitis sicca2IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0000509HP:0001097Keratoconjunctivitis sicca2IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000509HP:0001097Keratoconjunctivitis sicca2IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000509HP:0001097Keratoconjunctivitis sicca2IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0000509HP:0001097Keratoconjunctivitis sicca2KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0000509HP:0001097Keratoconjunctivitis sicca2LBR CL E G H39306518ORPHA:779Reynolds syndromeHP:0040282 - Frequent70
HP:0000509HP:0001097Keratoconjunctivitis sicca2MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0000509HP:0001097Keratoconjunctivitis sicca2MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0000509HP:0001097Keratoconjunctivitis sicca2MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000509HP:0001097Keratoconjunctivitis sicca2MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitiveHP:0040283 - Occasional9
HP:0000509HP:0001097Keratoconjunctivitis sicca2MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040284 - Very rare81
HP:0000509HP:0001097Keratoconjunctivitis sicca2NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0000509HP:0001097Keratoconjunctivitis sicca2NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0000509HP:0001097Keratoconjunctivitis sicca2RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000509HP:0001097Keratoconjunctivitis sicca2RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0000509HP:0001097Keratoconjunctivitis sicca2SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary.318
HP:0000509HP:0001097Keratoconjunctivitis sicca2SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0000509HP:0001097Keratoconjunctivitis sicca2STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0000509HP:0001097Keratoconjunctivitis sicca2TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000509HP:0001097Keratoconjunctivitis sicca2TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0000509HP:0001097Keratoconjunctivitis sicca2UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional


Genes (105) :AEBP1 AIRE AP1B1 BLNK BTD BTK BTNL2 C4A CARS1 CCR1 CD19 CD79A CD79B COL17A1 COL7A1 CR2 DDB2 DKC1 DNASE1L3 ERAP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ERF FAS FBN1 FERMT1 FGF10 FGFR2 FGFR3 FOXC2 GATA1 GJB2 GJB6 GNAS GSN GTF2E2 GTF2H5 HLA-B HLA-DRB1 HLCS IARS2 ICOS IFNGR1 IGHM IGLL1 IGSF3 IKZF1 IL10 IL12A IL12A-AS1 IL23R KAT6A KLRC4 LBR LRBA LRRC8A MAB21L1 MBTPS2 MEFV MMP1 MPLKIP MTTP NLRP1 NLRP3 NOD2 PAX1 PIK3R1 PLG POLH PSMB4 PSMB8 PSMB9 RAG1 RAG2 RNF113A RNF125 SAMD9 SCN9A SLC39A4 SREBF1 STAT4 STX11 STX16 TARS1 TCF3 TFRC TKT TLR4 TNFRSF13B TNFRSF13C TNFRSF1A TP63 UBAC2 UROD UROS USB1 VPS33A WAS WIPF1 XPA XPC

Diseases (90) :ORPHA:536532 OMIM:240300 OMIM:242150 ORPHA:33110 ORPHA:79241 OMIM:253260 OMIM:300755 OMIM:307200 ORPHA:47 ORPHA:797 ORPHA:117 ORPHA:33364 OMIM:240500 OMIM:613493 OMIM:612692 ORPHA:293381 OMIM:226600 OMIM:278740 OMIM:305000 ORPHA:36412 ORPHA:90322 OMIM:601675 OMIM:278730 ORPHA:90321 ORPHA:90324 OMIM:278800 ORPHA:207 OMIM:616914 ORPHA:2908 ORPHA:2363 OMIM:123500 OMIM:153400 ORPHA:33001 ORPHA:79277 OMIM:148210 ORPHA:477 OMIM:129500 ORPHA:79443 ORPHA:94089 ORPHA:79444 ORPHA:85448 ORPHA:29207 ORPHA:36426 ORPHA:79242 OMIM:616007 OMIM:607594 OMIM:601495 OMIM:149700 OMIM:616268 ORPHA:779 OMIM:614700 OMIM:618479 ORPHA:2273 OMIM:308800 OMIM:234050 ORPHA:14 OMIM:617388 OMIM:617772 OMIM:120100 ORPHA:47045 OMIM:191900 ORPHA:575 OMIM:617321 OMIM:615560 OMIM:217090 OMIM:278750 OMIM:617591 OMIM:256040 OMIM:601457 OMIM:616260 OMIM:610455 OMIM:133020 ORPHA:37 OMIM:619016 OMIM:158310 OMIM:603552 OMIM:616740 ORPHA:488618 OMIM:142680 ORPHA:32960 OMIM:103285 OMIM:106260 ORPHA:69085 ORPHA:95159 OMIM:263700 OMIM:604173 ORPHA:505248 ORPHA:906 OMIM:278700 OMIM:278720
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.