Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Grandparent Node:
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Increased inflammatory response (HP:0012649)help
Parent Node:
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Abnormal eyelid morphology (HP:0000492)help
Parent Node:
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Inflammatory abnormality of the eye (HP:0100533)help
..Starting node
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Blepharitis (HP:0000498)help
Term ID: 498
Name: Blepharitis
Synonym: Cellulitis of eyelids; Inflammation of eyelids
Definition: Inflammation of the eyelids.
Comments:
Reference: HP:0000498
Genes and Diseases:
 
       Child Nodes:
........expandAnterior blepharitis (HP:0025609) help
........expandPosterior blepharitis (HP:0025610) help
................... HP:0500046 Seborrhoeic blepharitis

 Sister Nodes: 
..expandConjunctivitis (HP:0000509) help
..expandEpiscleritis (HP:0100534) help
..expandKeratitis (HP:0000491) help
..expandScleritis (HP:0100532) help
..expandUveitis (HP:0000554) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000498HP:0000498Blepharitis0ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM17195603639
HP:0000498HP:0000498Blepharitis0APOE CL E G H348158029ORPHA164613107741
HP:0000498HP:0000498Blepharitis0COL7A1 CL E G H129479408ORPHA18282214120120
HP:0000498HP:0000498Blepharitis0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1752890300126
HP:0000498HP:0000498Blepharitis0GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM1344288604418
HP:0000498HP:0000498Blepharitis0HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15613315300269
HP:0000498HP:0000498Blepharitis0KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11277132159555
HP:0000498HP:0000498Blepharitis0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM12615455300294
HP:0000498HP:0000498Blepharitis0MMP1 CL E G H431279408ORPHA187155120353
HP:0000498HP:0000498Blepharitis0MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM1410545607545
HP:0000498HP:0000498Blepharitis0NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143728862608667
HP:0000498HP:0000498Blepharitis0PKP1 CL E G H5317158668ORPHA1189023601975
HP:0000498HP:0000498Blepharitis0PLCD1 CL E G H53332387Friedman Goodman syndromeORPHA1129060602142
HP:0000498HP:0000498Blepharitis0RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1139811606462
HP:0000498HP:0000498Blepharitis0SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13825566615743
HP:0000498HP:0000498Blepharitis0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA15217129607059
HP:0000498HP:0000498Blepharitis0SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110011111300040
HP:0000498HP:0000498Blepharitis0SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282468606062
HP:0000498HP:0000498Blepharitis0ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM1911344606797
HP:0000498HP:0000498Blepharitis0TP63 CL E G H86261896Dominant cleft palateORPHA112815979603273
HP:0000498HP:0000498Blepharitis0TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM112815979603273
HP:0000498HP:0000498Blepharitis0TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM112815979603273
HP:0000498HP:0000498Blepharitis0TRAF3IP2 CL E G H10758615527Candidiasis, familial, 8615527C3714992OMIM151343607043
HP:0000498HP:0000498Blepharitis0USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM12225792613276
HP:0000498HP:0000498Blepharitis1ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM17195603639
HP:0000498HP:0000498Blepharitis1APOE CL E G H348158029ORPHA164613107741
HP:0000498HP:0000498Blepharitis1COL7A1 CL E G H129479408ORPHA18282214120120
HP:0000498HP:0000498Blepharitis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1752890300126
HP:0000498HP:0000498Blepharitis1GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM1344288604418
HP:0000498HP:0000498Blepharitis1HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15613315300269
HP:0000498HP:0000498Blepharitis1KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11277132159555
HP:0000498HP:0000498Blepharitis1MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM12615455300294
HP:0000498HP:0000498Blepharitis1MMP1 CL E G H431279408ORPHA187155120353
HP:0000498HP:0000498Blepharitis1MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM1410545607545
HP:0000498HP:0000498Blepharitis1NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143728862608667
HP:0000498HP:0000498Blepharitis1PKP1 CL E G H5317158668ORPHA1189023601975
HP:0000498HP:0000498Blepharitis1PLCD1 CL E G H53332387Friedman Goodman syndromeORPHA1129060602142
HP:0000498HP:0000498Blepharitis1RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1139811606462
HP:0000498HP:0000498Blepharitis1SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13825566615743
HP:0000498HP:0000498Blepharitis1SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA15217129607059
HP:0000498HP:0000498Blepharitis1SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110011111300040
HP:0000498HP:0000498Blepharitis1SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282468606062
HP:0000498HP:0000498Blepharitis1ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM1911344606797
HP:0000498HP:0000498Blepharitis1TP63 CL E G H86261896Dominant cleft palateORPHA112815979603273
HP:0000498HP:0000498Blepharitis1TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM112815979603273
HP:0000498HP:0000498Blepharitis1TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM112815979603273
HP:0000498HP:0000498Blepharitis1TRAF3IP2 CL E G H10758615527Candidiasis, familial, 8615527C3714992OMIM151343607043
HP:0000498HP:0000498Blepharitis1USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM12225792613276
HP:0000498HP:0000498Blepharitis2ADAM17 CL E G H6868614328Inflammatory skin and bowel disease, neonatal 1614328C3280501OMIM17195603639
HP:0000498HP:0000498Blepharitis2APOE CL E G H348158029ORPHA164613107741
HP:0000498HP:0000498Blepharitis2COL7A1 CL E G H129479408ORPHA18282214120120
HP:0000498HP:0000498Blepharitis2DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM1752890300126
HP:0000498HP:0000498Blepharitis2GJB6 CL E G H10804129500Hidrotic ectodermal dysplasia syndrome129500C0162361OMIM1344288604418
HP:0000498HP:0000498Blepharitis2HDAC8 CL E G H55869199Cardiac hydatid cysts with intracavitary expansionORPHA15613315300269
HP:0000498HP:0000498Blepharitis2KMT2A CL E G H4297199Cardiac hydatid cysts with intracavitary expansionORPHA11277132159555
HP:0000498HP:0000498Blepharitis2MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM12615455300294
HP:0000498HP:0000498Blepharitis2MMP1 CL E G H431279408ORPHA187155120353
HP:0000498HP:0000498Blepharitis2MSMO1 CL E G H6307616834Microcephaly, congenital cataract, and psoriasiform dermatitis616834C4225189OMIM1410545607545
HP:0000498HP:0000498Blepharitis2NIPBL CL E G H25836199Cardiac hydatid cysts with intracavitary expansionORPHA143728862608667
HP:0000498HP:0000498Blepharitis2PKP1 CL E G H5317158668ORPHA1189023601975
HP:0000498HP:0000498Blepharitis2PLCD1 CL E G H53332387Friedman Goodman syndromeORPHA1129060602142
HP:0000498HP:0000498Blepharitis2RAD21 CL E G H5885199Cardiac hydatid cysts with intracavitary expansionORPHA1139811606462
HP:0000498HP:0000498Blepharitis2SETD5 CL E G H55209199Cardiac hydatid cysts with intracavitary expansionORPHA13825566615743
HP:0000498HP:0000498Blepharitis2SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA15217129607059
HP:0000498HP:0000498Blepharitis2SMC1A CL E G H8243199Cardiac hydatid cysts with intracavitary expansionORPHA110011111300040
HP:0000498HP:0000498Blepharitis2SMC3 CL E G H9126199Cardiac hydatid cysts with intracavitary expansionORPHA1282468606062
HP:0000498HP:0000498Blepharitis2ST14 CL E G H6768602400Ichthyosis, congenital, autosomal recessive 11602400C1865595OMIM1911344606797
HP:0000498HP:0000498Blepharitis2TP63 CL E G H86261896Dominant cleft palateORPHA112815979603273
HP:0000498HP:0000498Blepharitis2TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM112815979603273
HP:0000498HP:0000498Blepharitis2TP63 CL E G H8626106260Hay-Wells syndrome of ectodermal dysplasia106260C0406709OMIM112815979603273
HP:0000498HP:0000498Blepharitis2TRAF3IP2 CL E G H10758615527Candidiasis, familial, 8615527C3714992OMIM151343607043
HP:0000498HP:0000498Blepharitis2USB1 CL E G H79650604173Poikiloderma with neutropenia604173C1858723OMIM12225792613276
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000498HP:0000498Blepharitis0CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03426169613129
HP:0000498HP:0000498Blepharitis0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA0172718600811
HP:0000498HP:0000498Blepharitis0DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0752890300126
HP:0000498HP:0000498Blepharitis0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA01083434126340
HP:0000498HP:0000498Blepharitis0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA0203435133510
HP:0000498HP:0000498Blepharitis0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA0723436133520
HP:0000498HP:0000498Blepharitis0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA0593437133530
HP:0000498HP:0000498Blepharitis0GATA1 CL E G H262379277ORPHA0154170305371
HP:0000498HP:0000498Blepharitis0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02615455300294
HP:0000498HP:0000498Blepharitis0NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0314377606470
HP:0000498HP:0000498Blepharitis0NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0114378606471
HP:0000498HP:0000498Blepharitis0PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0298609604212
HP:0000498HP:0000498Blepharitis0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0348967606097
HP:0000498HP:0000498Blepharitis0PLXND1 CL E G H23129570ORPHA089107604282
HP:0000498HP:0000498Blepharitis0REV3L CL E G H5980570ORPHA099968602776
HP:0000498HP:0000498Blepharitis0RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05415888608833
HP:0000498HP:0000498Blepharitis0TBX4 CL E G H9496261279ORPHA05911603601719
HP:0000498HP:0000498Blepharitis0TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA07411727602322
HP:0000498HP:0000498Blepharitis0TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA017311730187270
HP:0000498HP:0000498Blepharitis0TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA04211824604319
HP:0000498HP:0000498Blepharitis0TP63 CL E G H862669085ORPHA012815979603273
HP:0000498HP:0000498Blepharitis0UROS CL E G H739079277ORPHA05112592606938
HP:0000498HP:0000498Blepharitis0USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA02225792613276
HP:0000498HP:0000498Blepharitis0WAS CL E G H7454906ORPHA044112731300392
HP:0000498HP:0000498Blepharitis0WIPF1 CL E G H7456906ORPHA0312736602357
HP:0000498HP:0000498Blepharitis0WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0725522612661
HP:0000498HP:0000498Blepharitis0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA05112814611153
HP:0000498HP:0000498Blepharitis0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA010012816613208
HP:0000498HP:0000498Blepharitis1CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03426169613129
HP:0000498HP:0000498Blepharitis1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA0172718600811
HP:0000498HP:0000498Blepharitis1DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0752890300126
HP:0000498HP:0000498Blepharitis1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA01083434126340
HP:0000498HP:0000498Blepharitis1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA0203435133510
HP:0000498HP:0000498Blepharitis1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA0723436133520
HP:0000498HP:0000498Blepharitis1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA0593437133530
HP:0000498HP:0000498Blepharitis1GATA1 CL E G H262379277ORPHA0154170305371
HP:0000498HP:0000498Blepharitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02615455300294
HP:0000498HP:0000498Blepharitis1NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0314377606470
HP:0000498HP:0000498Blepharitis1NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0114378606471
HP:0000498HP:0000498Blepharitis1PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0298609604212
HP:0000498HP:0000498Blepharitis1PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0348967606097
HP:0000498HP:0000498Blepharitis1PLXND1 CL E G H23129570ORPHA089107604282
HP:0000498HP:0000498Blepharitis1REV3L CL E G H5980570ORPHA099968602776
HP:0000498HP:0000498Blepharitis1RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05415888608833
HP:0000498HP:0000498Blepharitis1TBX4 CL E G H9496261279ORPHA05911603601719
HP:0000498HP:0000498Blepharitis1TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA07411727602322
HP:0000498HP:0000498Blepharitis1TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA017311730187270
HP:0000498HP:0000498Blepharitis1TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA04211824604319
HP:0000498HP:0000498Blepharitis1TP63 CL E G H862669085ORPHA012815979603273
HP:0000498HP:0000498Blepharitis1UROS CL E G H739079277ORPHA05112592606938
HP:0000498HP:0000498Blepharitis1USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA02225792613276
HP:0000498HP:0000498Blepharitis1WAS CL E G H7454906ORPHA044112731300392
HP:0000498HP:0000498Blepharitis1WIPF1 CL E G H7456906ORPHA0312736602357
HP:0000498HP:0000498Blepharitis1WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0725522612661
HP:0000498HP:0000498Blepharitis1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA05112814611153
HP:0000498HP:0000498Blepharitis1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA010012816613208
HP:0000498HP:0000498Blepharitis2CTC1 CL E G H801691775Chromosome 4, monosomy 4p14 p16CN036837ORPHA03426169613129
HP:0000498HP:0000498Blepharitis2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA0172718600811
HP:0000498HP:0000498Blepharitis2DKC1 CL E G H17361775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0752890300126
HP:0000498HP:0000498Blepharitis2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA01083434126340
HP:0000498HP:0000498Blepharitis2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA0203435133510
HP:0000498HP:0000498Blepharitis2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA0723436133520
HP:0000498HP:0000498Blepharitis2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA0593437133530
HP:0000498HP:0000498Blepharitis2GATA1 CL E G H262379277ORPHA0154170305371
HP:0000498HP:0000498Blepharitis2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02615455300294
HP:0000498HP:0000498Blepharitis2NHP2 CL E G H556511775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0314377606470
HP:0000498HP:0000498Blepharitis2NOP10 CL E G H555051775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0114378606471
HP:0000498HP:0000498Blepharitis2PARN CL E G H50731775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0298609604212
HP:0000498HP:0000498Blepharitis2PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA0348967606097
HP:0000498HP:0000498Blepharitis2PLXND1 CL E G H23129570ORPHA089107604282
HP:0000498HP:0000498Blepharitis2REV3L CL E G H5980570ORPHA099968602776
HP:0000498HP:0000498Blepharitis2RTEL1 CL E G H517501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA05415888608833
HP:0000498HP:0000498Blepharitis2TBX4 CL E G H9496261279ORPHA05911603601719
HP:0000498HP:0000498Blepharitis2TERC CL E G H70121775Chromosome 4, monosomy 4p14 p16CN036837ORPHA07411727602322
HP:0000498HP:0000498Blepharitis2TERT CL E G H70151775Chromosome 4, monosomy 4p14 p16CN036837ORPHA017311730187270
HP:0000498HP:0000498Blepharitis2TINF2 CL E G H262771775Chromosome 4, monosomy 4p14 p16CN036837ORPHA04211824604319
HP:0000498HP:0000498Blepharitis2TP63 CL E G H862669085ORPHA012815979603273
HP:0000498HP:0000498Blepharitis2UROS CL E G H739079277ORPHA05112592606938
HP:0000498HP:0000498Blepharitis2USB1 CL E G H796501775Chromosome 4, monosomy 4p14 p16CN036837ORPHA02225792613276
HP:0000498HP:0000498Blepharitis2WAS CL E G H7454906ORPHA044112731300392
HP:0000498HP:0000498Blepharitis2WIPF1 CL E G H7456906ORPHA0312736602357
HP:0000498HP:0000498Blepharitis2WRAP53 CL E G H551351775Chromosome 4, monosomy 4p14 p16CN036837ORPHA0725522612661
HP:0000498HP:0000498Blepharitis2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA05112814611153
HP:0000498HP:0000498Blepharitis2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA010012816613208


Genes (46) :ADAM17 APOE COL7A1 CTC1 DDB2 DKC1 ERCC2 ERCC3 ERCC4 ERCC5 GATA1 GJB6 HDAC8 KMT2A MBTPS2 MMP1 MSMO1 NHP2 NIPBL NOP10 PARN PIGN PKP1 PLCD1 PLXND1 RAD21 REV3L RTEL1 SETD5 SLC39A4 SMC1A SMC3 ST14 TBX4 TERC TERT TINF2 TP63 TRAF3IP2 UROS USB1 WAS WIPF1 WRAP53 XPA XPC

Diseases (27) :614328 158029 79408 1775 910 305000 79277 129500 199 2273 308800 616834 280633 158668 2387 570 37 602400 261279 69085 1896 604292 106260 615527 604173 906 300918
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.