Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the vasculature (HP:0002597)help
Grandparent Node:
expand
obsolete Abnormal globe morphology (HP:0012374)help
Parent Node:
expand
Abnormality of the vasculature of the eye (HP:0008047)help
..Starting node
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Red eye (HP:0025337)help
Term ID: 25337
Name: Red eye
Synonym: Red eye; Red eyes
Definition: A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera.
Comments:
Reference: HP:0025337
Genes and Diseases:
 
       Child Nodes:
........expandConjunctivitis (HP:0000509) help
................... HP:0001096 Keratoconjunctivitis
................... HP:0007717 Chronic irritative conjunctivitis
................... HP:0007879 Allergic conjunctivitis
........expandSuperficial episcleral hyperemia (HP:0025339) help
........expandDeep episcleral hyperemia (HP:0025340) help
........expandConjunctival hyperemia (HP:0030953) help
................... HP:0025338 Circumlimbal hyperemia

 Sister Nodes: 
..expandAbnormal iris vasculature (HP:0007905) help
..expandAbnormal morphology of the conjunctival vasculature (HP:0008054) help
..expandAbnormal retinal vascular morphology (HP:0008046) 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:0025337HP:0025337Red eye0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0025337HP:0025337Red eye0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0025337HP:0025337Red eye0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0025337HP:0025337Red eye0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0025337HP:0025337Red eye0BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemia4
HP:0025337HP:0025337Red eye0BTD CL E G H6861122ORPHA:79241Biotinidase deficiency223
HP:0025337HP:0025337Red eye0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset223
HP:0025337HP:0025337Red eye0BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked109
HP:0025337HP:0025337Red eye0BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia109
HP:0025337HP:0025337Red eye0BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemia109
HP:0025337HP:0025337Red eye0BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0025337HP:0025337Red eye0C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0025337HP:0025337Red eye0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0025337HP:0025337Red eye0CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0025337HP:0025337Red eye0CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 238
HP:0025337HP:0025337Red eye0CD19 CL E G H9301633OMIM:613493IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID338
HP:0025337HP:0025337Red eye0CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemia9
HP:0025337HP:0025337Red eye0CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive6
HP:0025337HP:0025337Red eye0CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemia6
HP:0025337HP:0025337Red eye0COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophy129
HP:0025337HP:0025337Red eye0COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive263
HP:0025337HP:0025337Red eye0CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 210
HP:0025337HP:0025337Red eye0DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E30
HP:0025337HP:0025337Red eye0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0025337HP:0025337Red eye0DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitis3
HP:0025337HP:0025337Red eye0ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0025337HP:0025337Red eye0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0025337HP:0025337Red eye0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0025337HP:0025337Red eye0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0025337HP:0025337Red eye0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D106
HP:0025337HP:0025337Red eye0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0025337HP:0025337Red eye0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0025337HP:0025337Red eye0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0025337HP:0025337Red eye0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0025337HP:0025337Red eye0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0025337HP:0025337Red eye0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0025337HP:0025337Red eye0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0025337HP:0025337Red eye0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0025337HP:0025337Red eye0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0025337HP:0025337Red eye0ERF CL E G H20773444ORPHA:207Crouzon disease12
HP:0025337HP:0025337Red eye0FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0025337HP:0025337Red eye0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0025337HP:0025337Red eye0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0025337HP:0025337Red eye0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0025337HP:0025337Red eye0FGFR2 CL E G H22633689ORPHA:207Crouzon disease175
HP:0025337HP:0025337Red eye0FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome175
HP:0025337HP:0025337Red eye0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0025337HP:0025337Red eye0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0025337HP:0025337Red eye0FOXC2 CL E G H23033801ORPHA:33001Lymphedema-distichiasis syndrome20
HP:0025337HP:0025337Red eye0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome20
HP:0025337HP:0025337Red eye0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0025337HP:0025337Red eye0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0025337HP:0025337Red eye0GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0025337HP:0025337Red eye0GJB6 CL E G H108044288OMIM:129500Clouston syndrome56
HP:0025337HP:0025337Red eye0GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0025337HP:0025337Red eye0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0025337HP:0025337Red eye0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0025337HP:0025337Red eye0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0025337HP:0025337Red eye0GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0025337HP:0025337Red eye0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0025337HP:0025337Red eye0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0025337HP:0025337Red eye0HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0025337HP:0025337Red eye0HLA-B CL E G H31064932ORPHA:29207Reactive arthritis4
HP:0025337HP:0025337Red eye0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndrome4
HP:0025337HP:0025337Red eye0HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0025337HP:0025337Red eye0HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiency148
HP:0025337HP:0025337Red eye0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0025337HP:0025337Red eye0ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 132
HP:0025337HP:0025337Red eye0ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 232
HP:0025337HP:0025337Red eye0IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0025337HP:0025337Red eye0IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive7
HP:0025337HP:0025337Red eye0IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemia7
HP:0025337HP:0025337Red eye0IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemia3
HP:0025337HP:0025337Red eye0IGSF3 CL E G H33215950OMIM:149700Lacrimal duct defect3
HP:0025337HP:0025337Red eye0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndrome8
HP:0025337HP:0025337Red eye0IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0025337HP:0025337Red eye0IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0025337HP:0025337Red eye0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0025337HP:0025337Red eye0IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0025337HP:0025337Red eye0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0025337HP:0025337Red eye0KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0025337HP:0025337Red eye0LBR CL E G H39306518ORPHA:779Reynolds syndrome70
HP:0025337HP:0025337Red eye0LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0025337HP:0025337Red eye0LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemia3
HP:0025337HP:0025337Red eye0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0025337HP:0025337Red eye0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndrome140
HP:0025337HP:0025337Red eye0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome22
HP:0025337HP:0025337Red eye0MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked22
HP:0025337HP:0025337Red eye0MEFV CL E G H42106998ORPHA:117Behçet disease281
HP:0025337HP:0025337Red eye0MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive6
HP:0025337HP:0025337Red eye0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0025337HP:0025337Red eye0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0025337HP:0025337Red eye0MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0025337HP:0025337Red eye0NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0025337HP:0025337Red eye0NLRP3 CL E G H11454816400OMIM:617772Deafness, autosomal dominant 34, with or without inflammation217
HP:0025337HP:0025337Red eye0NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0025337HP:0025337Red eye0NLRP3 CL E G H11454816400ORPHA:47045Familial cold urticaria217
HP:0025337HP:0025337Red eye0NLRP3 CL E G H11454816400OMIM:148200Keratoendotheliitis fugax hereditaria217
HP:0025337HP:0025337Red eye0NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0025337HP:0025337Red eye0NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndrome217
HP:0025337HP:0025337Red eye0NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0025337HP:0025337Red eye0PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0025337HP:0025337Red eye0PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemia43
HP:0025337HP:0025337Red eye0PLG CL E G H53409071OMIM:217090Plasminogen deficiency, type iligneous conjunctivitis, included11
HP:0025337HP:0025337Red eye0POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type155
HP:0025337HP:0025337Red eye0PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0025337HP:0025337Red eye0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0025337HP:0025337Red eye0PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3
HP:0025337HP:0025337Red eye0RAG1 CL E G H58969831OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive127
HP:0025337HP:0025337Red eye0RAG2 CL E G H58979832OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive50
HP:0025337HP:0025337Red eye0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0025337HP:0025337Red eye0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome5
HP:0025337HP:0025337Red eye0SAMD9 CL E G H548091348OMIM:610455Tumoral calcinosis, normophosphatemic, familial8
HP:0025337HP:0025337Red eye0SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary318
HP:0025337HP:0025337Red eye0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0025337HP:0025337Red eye0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathica55
HP:0025337HP:0025337Red eye0SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0025337HP:0025337Red eye0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary1
HP:0025337HP:0025337Red eye0STAT4 CL E G H677511365ORPHA:117Behçet disease2
HP:0025337HP:0025337Red eye0STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0025337HP:0025337Red eye0STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1B86
HP:0025337HP:0025337Red eye0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0025337HP:0025337Red eye0TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemia2
HP:0025337HP:0025337Red eye0TFRC CL E G H703711763OMIM:616740Immunodeficiency 461
HP:0025337HP:0025337Red eye0TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type IHP:0040282 - Frequent58
HP:0025337HP:0025337Red eye0TKT CL E G H708611834ORPHA:488618Transketolase deficiency4
HP:0025337HP:0025337Red eye0TLR4 CL E G H709911850ORPHA:117Behçet disease3
HP:0025337HP:0025337Red eye0TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 232
HP:0025337HP:0025337Red eye0TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 212
HP:0025337HP:0025337Red eye0TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0025337HP:0025337Red eye0TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndrome131
HP:0025337HP:0025337Red eye0TP63 CL E G H862615979OMIM:103285Adult syndrome140
HP:0025337HP:0025337Red eye0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate140
HP:0025337HP:0025337Red eye0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0025337HP:0025337Red eye0UBAC2 CL E G H33786720486ORPHA:117Behçet disease
HP:0025337HP:0025337Red eye0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0025337HP:0025337Red eye0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0025337HP:0025337Red eye0UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic41
HP:0025337HP:0025337Red eye0USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia8
HP:0025337HP:0025337Red eye0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders1
HP:0025337HP:0025337Red eye0WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndrome65
HP:0025337HP:0025337Red eye0WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndrome6
HP:0025337HP:0025337Red eye0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A34
HP:0025337HP:0025337Red eye0XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C86
HP:0025337HP:0025340Deep episcleral hyperemia1 CL E G H
HP:0025337HP:0025339Superficial episcleral hyperemia1 CL E G H
HP:0025337HP:0000509Conjunctivitis1AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0025337HP:0000509Conjunctivitis1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0025337HP:0000509Conjunctivitis1AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness.
HP:0025337HP:0030953Conjunctival hyperemia1AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0025337HP:0000509Conjunctivitis1BLNK CL E G H2976014211ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent4
HP:0025337HP:0000509Conjunctivitis1BTD CL E G H6861122ORPHA:79241Biotinidase deficiencyHP:0040283 - Occasional223
HP:0025337HP:0000509Conjunctivitis1BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0025337HP:0000509Conjunctivitis1BTK CL E G H6951133OMIM:300755Agammaglobulinemia, X-linked.109
HP:0025337HP:0000509Conjunctivitis1BTK CL E G H6951133OMIM:307200Isolated growth hormone deficiency, type III, with agammaglobulinemia109
HP:0025337HP:0000509Conjunctivitis1BTK CL E G H6951133ORPHA:47X-linked agammaglobulinemiaHP:0040281 - Very frequent109
HP:0025337HP:0000509Conjunctivitis1BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0025337HP:0000509Conjunctivitis1C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0025337HP:0000509Conjunctivitis1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0025337HP:0000509Conjunctivitis1CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0025337HP:0000509Conjunctivitis1CD19 CL E G H9301633OMIM:240500Immunodeficiency, common variable, 2.38
HP:0025337HP:0000509Conjunctivitis1CD19 CL E G H9301633OMIM:613493IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID338
HP:0025337HP:0000509Conjunctivitis1CD79A CL E G H9731698ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent9
HP:0025337HP:0000509Conjunctivitis1CD79B CL E G H9741699OMIM:612692Agammaglobulinemia 6, autosomal recessive.6
HP:0025337HP:0000509Conjunctivitis1CD79B CL E G H9741699ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent6
HP:0025337HP:0000509Conjunctivitis1COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophy129
HP:0025337HP:0000509Conjunctivitis1COL7A1 CL E G H12942214OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.263
HP:0025337HP:0000509Conjunctivitis1CR2 CL E G H13802336OMIM:240500Immunodeficiency, common variable, 2.10
HP:0025337HP:0000509Conjunctivitis1DDB2 CL E G H16432718OMIM:278740Xeroderma pigmentosum, complementation group E.30
HP:0025337HP:0000509Conjunctivitis1DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0025337HP:0000509Conjunctivitis1DNASE1L3 CL E G H17762959ORPHA:36412Hypocomplementemic urticarial vasculitisHP:0040282 - Frequent3
HP:0025337HP:0000509Conjunctivitis1ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0025337HP:0000509Conjunctivitis1ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional20
HP:0025337HP:0000509Conjunctivitis1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0025337HP:0000509Conjunctivitis1ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0025337HP:0000509Conjunctivitis1ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0025337HP:0000509Conjunctivitis1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0025337HP:0000509Conjunctivitis1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional158
HP:0025337HP:0000509Conjunctivitis1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional199
HP:0025337HP:0000509Conjunctivitis1ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional199
HP:0025337HP:0000509Conjunctivitis1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0025337HP:0000509Conjunctivitis1ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0025337HP:0000509Conjunctivitis1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040283 - Occasional55
HP:0025337HP:0000509Conjunctivitis1ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040283 - Occasional55
HP:0025337HP:0000509Conjunctivitis1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0025337HP:0000509Conjunctivitis1ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040282 - Frequent12
HP:0025337HP:0000509Conjunctivitis1FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0025337HP:0000509Conjunctivitis1FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0025337HP:0000509Conjunctivitis1FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040283 - Occasional136
HP:0025337HP:0000509Conjunctivitis1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0025337HP:0000509Conjunctivitis1FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040282 - Frequent175
HP:0025337HP:0000509Conjunctivitis1FGFR2 CL E G H22633689OMIM:123500Crouzon syndrome.175
HP:0025337HP:0000509Conjunctivitis1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0025337HP:0000509Conjunctivitis1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0025337HP:0000509Conjunctivitis1FOXC2 CL E G H23033801ORPHA:33001Lymphedema-distichiasis syndromeHP:0040281 - Very frequent20
HP:0025337HP:0000509Conjunctivitis1FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome.20
HP:0025337HP:0000509Conjunctivitis1GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyria29
HP:0025337HP:0000509Conjunctivitis1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0025337HP:0000509Conjunctivitis1GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0025337HP:0000509Conjunctivitis1GJB6 CL E G H108044288OMIM:129500Clouston syndrome.56
HP:0025337HP:0000509Conjunctivitis1GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0025337HP:0000509Conjunctivitis1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0025337HP:0000509Conjunctivitis1GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional101
HP:0025337HP:0000509Conjunctivitis1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0025337HP:0000509Conjunctivitis1GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0025337HP:0000509Conjunctivitis1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0025337HP:0000509Conjunctivitis1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0025337HP:0000509Conjunctivitis1HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0025337HP:0000509Conjunctivitis1HLA-B CL E G H31064932ORPHA:29207Reactive arthritisHP:0040281 - Very frequent4
HP:0025337HP:0000509Conjunctivitis1HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional4
HP:0025337HP:0000509Conjunctivitis1HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0025337HP:0000509Conjunctivitis1HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiency148
HP:0025337HP:0000509Conjunctivitis1IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0025337HP:0000509Conjunctivitis1ICOS CL E G H298515351OMIM:607594Immunodeficiency, common variable, 1.32
HP:0025337HP:0000509Conjunctivitis1ICOS CL E G H298515351OMIM:240500Immunodeficiency, common variable, 2.32
HP:0025337HP:0000509Conjunctivitis1IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0025337HP:0000509Conjunctivitis1IGHM CL E G H35075541OMIM:601495Agammaglobulinemia 1, autosomal recessive.7
HP:0025337HP:0000509Conjunctivitis1IGHM CL E G H35075541ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent7
HP:0025337HP:0000509Conjunctivitis1IGLL1 CL E G H35435870ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0025337HP:0000509Conjunctivitis1IGSF3 CL E G H33215950OMIM:149700Lacrimal duct defectHP:0040283 - Occasional3
HP:0025337HP:0000509Conjunctivitis1IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional8
HP:0025337HP:0000509Conjunctivitis1IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0025337HP:0000509Conjunctivitis1IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0025337HP:0000509Conjunctivitis1IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0025337HP:0000509Conjunctivitis1IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0025337HP:0000509Conjunctivitis1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0025337HP:0000509Conjunctivitis1KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0025337HP:0000509Conjunctivitis1LBR CL E G H39306518ORPHA:779Reynolds syndrome70
HP:0025337HP:0000509Conjunctivitis1LRBA CL E G H9871742OMIM:614700IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID845
HP:0025337HP:0000509Conjunctivitis1LRRC8A CL E G H5626219027ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent3
HP:0025337HP:0000509Conjunctivitis1MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0025337HP:0030953Conjunctival hyperemia1MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040282 - Frequent140
HP:0025337HP:0000509Conjunctivitis1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0025337HP:0000509Conjunctivitis1MBTPS2 CL E G H5136015455OMIM:308800Keratosis follicularis spinulosa decalvans, X-linked.22
HP:0025337HP:0000509Conjunctivitis1MEFV CL E G H42106998ORPHA:117Behçet disease281
HP:0025337HP:0000509Conjunctivitis1MMP1 CL E G H43127155OMIM:226600Epidermolysis bullosa dystrophica, autosomal recessive.6
HP:0025337HP:0000509Conjunctivitis1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0025337HP:0000509Conjunctivitis1MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0025337HP:0000509Conjunctivitis1MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0025337HP:0000509Conjunctivitis1NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0025337HP:0000509Conjunctivitis1NLRP3 CL E G H11454816400OMIM:617772Deafness, autosomal dominant 34, with or without inflammation.217
HP:0025337HP:0000509Conjunctivitis1NLRP3 CL E G H11454816400OMIM:120100FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1217
HP:0025337HP:0000509Conjunctivitis1NLRP3 CL E G H11454816400ORPHA:47045Familial cold urticariaHP:0040283 - Occasional217
HP:0025337HP:0030953Conjunctival hyperemia1NLRP3 CL E G H11454816400OMIM:148200Keratoendotheliitis fugax hereditaria.217
HP:0025337HP:0000509Conjunctivitis1NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0025337HP:0030953Conjunctival hyperemia1NLRP3 CL E G H11454816400OMIM:191900Muckle-Wells syndrome217
HP:0025337HP:0000509Conjunctivitis1NLRP3 CL E G H11454816400ORPHA:575Muckle-Wells syndromeHP:0040281 - Very frequent217
HP:0025337HP:0000509Conjunctivitis1NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0025337HP:0000509Conjunctivitis1PAX1 CL E G H50758615OMIM:615560Otofaciocervical syndrome 23
HP:0025337HP:0000509Conjunctivitis1PIK3R1 CL E G H52958979ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent43
HP:0025337HP:0000509Conjunctivitis1PLG CL E G H53409071OMIM:217090Plasminogen deficiency, type iligneous conjunctivitis, included.11
HP:0025337HP:0000509Conjunctivitis1POLH CL E G H54299181OMIM:278750Xeroderma pigmentosum, Variant type.155
HP:0025337HP:0000509Conjunctivitis1PSMB4 CL E G H56929541OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0025337HP:0000509Conjunctivitis1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0025337HP:0000509Conjunctivitis1PSMB9 CL E G H56989546OMIM:617591Proteasome-Associated autoinflammatory syndrome 3.
HP:0025337HP:0000509Conjunctivitis1RAG1 CL E G H58969831OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.127
HP:0025337HP:0000509Conjunctivitis1RAG2 CL E G H58979832OMIM:601457Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive.50
HP:0025337HP:0000509Conjunctivitis1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0025337HP:0000509Conjunctivitis1RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome5
HP:0025337HP:0000509Conjunctivitis1SAMD9 CL E G H548091348OMIM:610455Tumoral calcinosis, normophosphatemic, familial.8
HP:0025337HP:0000509Conjunctivitis1SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary318
HP:0025337HP:0030953Conjunctival hyperemia1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0025337HP:0000509Conjunctivitis1SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040282 - Frequent55
HP:0025337HP:0000509Conjunctivitis1SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0025337HP:0000509Conjunctivitis1SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary1
HP:0025337HP:0000509Conjunctivitis1STAT4 CL E G H677511365ORPHA:117Behçet disease2
HP:0025337HP:0000509Conjunctivitis1STX11 CL E G H867611429OMIM:603552HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL485
HP:0025337HP:0000509Conjunctivitis1STX16 CL E G H867511431ORPHA:94089Pseudohypoparathyroidism type 1BHP:0040283 - Occasional86
HP:0025337HP:0000509Conjunctivitis1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0025337HP:0000509Conjunctivitis1TCF3 CL E G H692911633ORPHA:33110Autosomal agammaglobulinemiaHP:0040281 - Very frequent2
HP:0025337HP:0000509Conjunctivitis1TFRC CL E G H703711763OMIM:616740Immunodeficiency 461
HP:0025337HP:0000509Conjunctivitis1TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040283 - Occasional4
HP:0025337HP:0000509Conjunctivitis1TLR4 CL E G H709911850ORPHA:117Behçet disease3
HP:0025337HP:0000509Conjunctivitis1TNFRSF13B CL E G H2349518153OMIM:240500Immunodeficiency, common variable, 2.32
HP:0025337HP:0000509Conjunctivitis1TNFRSF13C CL E G H11565017755OMIM:240500Immunodeficiency, common variable, 2.12
HP:0025337HP:0030953Conjunctival hyperemia1TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0025337HP:0000509Conjunctivitis1TNFRSF1A CL E G H713211916OMIM:142680Periodic fever, familial, autosomal dominant131
HP:0025337HP:0000509Conjunctivitis1TNFRSF1A CL E G H713211916ORPHA:32960Tumor necrosis factor receptor 1 associated periodic syndromeHP:0040283 - Occasional131
HP:0025337HP:0000509Conjunctivitis1TP63 CL E G H862615979OMIM:103285Adult syndrome.140
HP:0025337HP:0000509Conjunctivitis1TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0025337HP:0000509Conjunctivitis1TP63 CL E G H862615979ORPHA:69085Limb-mammary syndrome140
HP:0025337HP:0000509Conjunctivitis1UBAC2 CL E G H33786720486ORPHA:117Behçet disease
HP:0025337HP:0000509Conjunctivitis1UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyria31
HP:0025337HP:0000509Conjunctivitis1UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyria41
HP:0025337HP:0000509Conjunctivitis1UROS CL E G H739012592OMIM:263700Porphyria, congenital erythropoietic.41
HP:0025337HP:0000509Conjunctivitis1USB1 CL E G H7965025792OMIM:604173Poikiloderma with neutropenia.8
HP:0025337HP:0000509Conjunctivitis1VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040283 - Occasional1
HP:0025337HP:0000509Conjunctivitis1WAS CL E G H745412731ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional65
HP:0025337HP:0000509Conjunctivitis1WIPF1 CL E G H745612736ORPHA:906Wiskott-Aldrich syndromeHP:0040283 - Occasional6
HP:0025337HP:0000509Conjunctivitis1XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0025337HP:0000509Conjunctivitis1XPC CL E G H750812816OMIM:278720Xeroderma pigmentosum, complementation group C.86
HP:0025337HP:0025338Circumlimbal hyperemia2 CL E G H
HP:0025337HP:0007879Allergic conjunctivitis2 CL E G H
HP:0025337HP:0001096Keratoconjunctivitis2AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2
HP:0025337HP:0001096Keratoconjunctivitis2AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0025337HP:0001096Keratoconjunctivitis2BTNL2 CL E G H562441142ORPHA:797Sarcoidosis1
HP:0025337HP:0001096Keratoconjunctivitis2C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0025337HP:0001096Keratoconjunctivitis2CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0025337HP:0001096Keratoconjunctivitis2CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0025337HP:0001096Keratoconjunctivitis2COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophy129
HP:0025337HP:0001096Keratoconjunctivitis2ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0025337HP:0001096Keratoconjunctivitis2ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0025337HP:0001096Keratoconjunctivitis2ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive106
HP:0025337HP:0001096Keratoconjunctivitis2ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D106
HP:0025337HP:0001096Keratoconjunctivitis2ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0025337HP:0001096Keratoconjunctivitis2ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0025337HP:0001096Keratoconjunctivitis2ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0025337HP:0001096Keratoconjunctivitis2FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0025337HP:0001096Keratoconjunctivitis2FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0025337HP:0001096Keratoconjunctivitis2FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0025337HP:0001096Keratoconjunctivitis2FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0025337HP:0001096Keratoconjunctivitis2FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0025337HP:0001096Keratoconjunctivitis2GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040284 - Very rare29
HP:0025337HP:0001096Keratoconjunctivitis2GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0025337HP:0001096Keratoconjunctivitis2GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0025337HP:0001096Keratoconjunctivitis2GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0025337HP:0001096Keratoconjunctivitis2GSN CL E G H29344620ORPHA:85448AGel amyloidosis53
HP:0025337HP:0001096Keratoconjunctivitis2GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0025337HP:0001096Keratoconjunctivitis2GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0025337HP:0001096Keratoconjunctivitis2HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0025337HP:0001096Keratoconjunctivitis2HLA-DRB1 CL E G H31234948ORPHA:797Sarcoidosis2
HP:0025337HP:0001096Keratoconjunctivitis2HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiencyHP:0040281 - Very frequent148
HP:0025337HP:0001096Keratoconjunctivitis2IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0025337HP:0001096Keratoconjunctivitis2IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0025337HP:0001096Keratoconjunctivitis2IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0025337HP:0001096Keratoconjunctivitis2IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0025337HP:0001096Keratoconjunctivitis2IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0025337HP:0001096Keratoconjunctivitis2IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0025337HP:0001096Keratoconjunctivitis2KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0025337HP:0001096Keratoconjunctivitis2LBR CL E G H39306518ORPHA:779Reynolds syndrome70
HP:0025337HP:0001096Keratoconjunctivitis2MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0025337HP:0001096Keratoconjunctivitis2MEFV CL E G H42106998ORPHA:117Behçet disease281
HP:0025337HP:0001096Keratoconjunctivitis2MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0025337HP:0001096Keratoconjunctivitis2MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0025337HP:0001096Keratoconjunctivitis2MTTP CL E G H45477467ORPHA:14Abetalipoproteinemia81
HP:0025337HP:0001096Keratoconjunctivitis2NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0025337HP:0001096Keratoconjunctivitis2NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0025337HP:0001096Keratoconjunctivitis2RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0025337HP:0001096Keratoconjunctivitis2RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome5
HP:0025337HP:0001096Keratoconjunctivitis2SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary318
HP:0025337HP:0001096Keratoconjunctivitis2SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0025337HP:0001096Keratoconjunctivitis2SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary.1
HP:0025337HP:0001096Keratoconjunctivitis2STAT4 CL E G H677511365ORPHA:117Behçet disease2
HP:0025337HP:0001096Keratoconjunctivitis2TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0025337HP:0001096Keratoconjunctivitis2TLR4 CL E G H709911850ORPHA:117Behçet disease3
HP:0025337HP:0007717Chronic irritative conjunctivitis2TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040283 - Occasional140
HP:0025337HP:0001096Keratoconjunctivitis2UBAC2 CL E G H33786720486ORPHA:117Behçet disease
HP:0025337HP:0001096Keratoconjunctivitis2UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040284 - Very rare31
HP:0025337HP:0001096Keratoconjunctivitis2UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040284 - Very rare41
HP:0025337HP:0001097Keratoconjunctivitis sicca3AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0025337HP:0001097Keratoconjunctivitis sicca3BTNL2 CL E G H562441142ORPHA:797SarcoidosisHP:0040283 - Occasional1
HP:0025337HP:0001097Keratoconjunctivitis sicca3C4A CL E G H7201323ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0025337HP:0001097Keratoconjunctivitis sicca3CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0025337HP:0001097Keratoconjunctivitis sicca3CCR1 CL E G H12301602ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0025337HP:0001097Keratoconjunctivitis sicca3COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophyHP:0040283 - Occasional129
HP:0025337HP:0001097Keratoconjunctivitis sicca3ERAP1 CL E G H5175218173ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0025337HP:0001097Keratoconjunctivitis sicca3ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0025337HP:0001097Keratoconjunctivitis sicca3ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitiveHP:0040283 - Occasional106
HP:0025337HP:0001097Keratoconjunctivitis sicca3ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group DHP:0040283 - Occasional106
HP:0025337HP:0001097Keratoconjunctivitis sicca3ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0025337HP:0001097Keratoconjunctivitis sicca3ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare199
HP:0025337HP:0001097Keratoconjunctivitis sicca3ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare55
HP:0025337HP:0001097Keratoconjunctivitis sicca3FAS CL E G H35511920ORPHA:117Behçet diseaseHP:0040283 - Occasional59
HP:0025337HP:0001097Keratoconjunctivitis sicca3FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0025337HP:0001097Keratoconjunctivitis sicca3FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent17
HP:0025337HP:0001097Keratoconjunctivitis sicca3FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent175
HP:0025337HP:0001097Keratoconjunctivitis sicca3FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent145
HP:0025337HP:0001097Keratoconjunctivitis sicca3GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0025337HP:0001097Keratoconjunctivitis sicca3GJB2 CL E G H27064284ORPHA:477KID syndrome199
HP:0025337HP:0001097Keratoconjunctivitis sicca3GJB6 CL E G H108044288ORPHA:477KID syndrome56
HP:0025337HP:0001097Keratoconjunctivitis sicca3GSN CL E G H29344620ORPHA:85448AGel amyloidosisHP:0040281 - Very frequent53
HP:0025337HP:0001097Keratoconjunctivitis sicca3GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0025337HP:0001097Keratoconjunctivitis sicca3GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0025337HP:0001097Keratoconjunctivitis sicca3HLA-B CL E G H31064932ORPHA:117Behçet diseaseHP:0040283 - Occasional4
HP:0025337HP:0001097Keratoconjunctivitis sicca3HLA-DRB1 CL E G H31234948ORPHA:797SarcoidosisHP:0040283 - Occasional2
HP:0025337HP:0001097Keratoconjunctivitis sicca3IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0025337HP:0001097Keratoconjunctivitis sicca3IFNGR1 CL E G H34595439ORPHA:117Behçet diseaseHP:0040283 - Occasional60
HP:0025337HP:0001097Keratoconjunctivitis sicca3IL10 CL E G H35865962ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0025337HP:0001097Keratoconjunctivitis sicca3IL12A CL E G H35925969ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0025337HP:0001097Keratoconjunctivitis sicca3IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0025337HP:0001097Keratoconjunctivitis sicca3IL23R CL E G H14923319100ORPHA:117Behçet diseaseHP:0040283 - Occasional1
HP:0025337HP:0001097Keratoconjunctivitis sicca3KLRC4 CL E G H83026377ORPHA:117Behçet diseaseHP:0040283 - Occasional
HP:0025337HP:0001097Keratoconjunctivitis sicca3LBR CL E G H39306518ORPHA:779Reynolds syndromeHP:0040282 - Frequent70
HP:0025337HP:0001097Keratoconjunctivitis sicca3MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome.
HP:0025337HP:0001097Keratoconjunctivitis sicca3MEFV CL E G H42106998ORPHA:117Behçet diseaseHP:0040283 - Occasional281
HP:0025337HP:0001097Keratoconjunctivitis sicca3MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0025337HP:0001097Keratoconjunctivitis sicca3MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitiveHP:0040283 - Occasional9
HP:0025337HP:0001097Keratoconjunctivitis sicca3MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040284 - Very rare81
HP:0025337HP:0001097Keratoconjunctivitis sicca3NLRP1 CL E G H2286114374OMIM:617388AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK37
HP:0025337HP:0001097Keratoconjunctivitis sicca3NOD2 CL E G H641275331OMIM:617321YAO SYNDROME; YAOS187
HP:0025337HP:0001097Keratoconjunctivitis sicca3RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0025337HP:0001097Keratoconjunctivitis sicca3RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0025337HP:0001097Keratoconjunctivitis sicca3SCN9A CL E G H633510597OMIM:133020Erythermalgia, primary.318
HP:0025337HP:0001097Keratoconjunctivitis sicca3SREBF1 CL E G H672011289OMIM:619016IFAP SYNDROME 2; IFAP21
HP:0025337HP:0001097Keratoconjunctivitis sicca3STAT4 CL E G H677511365ORPHA:117Behçet diseaseHP:0040283 - Occasional2
HP:0025337HP:0001097Keratoconjunctivitis sicca3TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0025337HP:0001097Keratoconjunctivitis sicca3TLR4 CL E G H709911850ORPHA:117Behçet diseaseHP:0040283 - Occasional3
HP:0025337HP:0001097Keratoconjunctivitis sicca3UBAC2 CL E G H33786720486ORPHA:117Behçet diseaseHP:0040283 - Occasional


Genes (109) :AEBP1 AIRE AP1B1 AP1G1 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 MAPT MBTPS2 MEFV MMP1 MPLKIP MTTP NLRP1 NLRP3 NOD2 PAX1 PIK3R1 PLG POLH PSMB4 PSMB8 PSMB9 RAG1 RAG2 RNF113A RNF125 SAMD9 SCN9A SHMT2 SLC39A4 SREBF1 STAT4 STX11 STX16 TARS1 TCF3 TFRC TGFBI TKT TLR4 TNFRSF13B TNFRSF13C TNFRSF1A TP63 UBAC2 UROD UROS USB1 VPS33A WAS WIPF1 XPA XPC

Diseases (95) :ORPHA:536532 OMIM:240300 OMIM:242150 OMIM:619548 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 ORPHA:33001 OMIM:153400 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:240071 ORPHA:2273 OMIM:308800 OMIM:234050 ORPHA:14 OMIM:617388 OMIM:617772 OMIM:120100 ORPHA:47045 OMIM:148200 OMIM:191900 ORPHA:575 OMIM:617321 OMIM:615560 OMIM:217090 OMIM:278750 OMIM:617591 OMIM:256040 OMIM:601457 OMIM:616260 OMIM:610455 OMIM:133020 OMIM:619121 ORPHA:37 OMIM:619016 OMIM:158310 OMIM:603552 OMIM:616740 ORPHA:98964 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.