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 corneal epithelium morphology (HP:0011495)help
Parent Node:
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Inflammatory abnormality of the eye (HP:0100533)help
..Starting node
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Keratitis (HP:0000491)help
Term ID: 491
Name: Keratitis
Synonym: Corneal inflammation
Definition: Inflammation of the cornea.
Comments:
Reference: HP:0000491
Genes and Diseases:
 
       Child Nodes:
........expandKeratoconjunctivitis (HP:0001096) help
................... HP:0001097 Keratoconjunctivitis sicca
........expandPunctate keratitis (HP:0011859) help

 Sister Nodes: 
..expandBlepharitis (HP:0000498) help
..expandConjunctivitis (HP:0000509) help
..expandEpiscleritis (HP:0100534) 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:0000491HP:0000491Keratitis0ABCA12 CL E G H2615479394ORPHA113632814637607800
HP:0000491HP:0000491Keratitis0ALOX12B CL E G H24279394ORPHA164283430603741
HP:0000491HP:0000491Keratitis0ALOXE3 CL E G H5934479394ORPHA12220013743607206
HP:0000491HP:0000491Keratitis0CERS3 CL E G H20421979394ORPHA1915923752615276
HP:0000491HP:0000491Keratitis0CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM137682364604237
HP:0000491HP:0000491Keratitis0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA117942718600811
HP:0000491HP:0000491Keratitis0DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM117942718600811
HP:0000491HP:0000491Keratitis0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA11083193434126340
HP:0000491HP:0000491Keratitis0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11083193434126340
HP:0000491HP:0000491Keratitis0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA1201713435133510
HP:0000491HP:0000491Keratitis0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA1724503436133520
HP:0000491HP:0000491Keratitis0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA1593363437133530
HP:0000491HP:0000491Keratitis0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM11408153438609413
HP:0000491HP:0000491Keratitis0FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM11594463689176943
HP:0000491HP:0000491Keratitis0GJB2 CL E G H2706477ORPHA14104534284121011
HP:0000491HP:0000491Keratitis0GJB6 CL E G H10804477ORPHA1342004288604418
HP:0000491HP:0000491Keratitis0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11513205961300248
HP:0000491HP:0000491Keratitis0MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM12622815455300294
HP:0000491HP:0000491Keratitis0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM12622815455300294
HP:0000491HP:0000491Keratitis0NIPAL4 CL E G H34893879394ORPHA11814528018609383
HP:0000491HP:0000491Keratitis0NLRP3 CL E G H114548148200Keratitis fugax hereditaria148200C1835697OMIM114258316400606416
HP:0000491HP:0000491Keratitis0NOD2 CL E G H6412790340ORPHA11215575331605956
HP:0000491HP:0000491Keratitis0NTRK1 CL E G H4914256800Hereditary insensitivity to pain with anhidrosis256800C0020074OMIM11267228031191315
HP:0000491HP:0000491Keratitis0PAX6 CL E G H5080148190Keratitis, hereditary148190C1835698OMIM15715708620607108
HP:0000491HP:0000491Keratitis0PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM110433369069601282
HP:0000491HP:0000491Keratitis0PNPLA1 CL E G H28584879394ORPHA14613621246612121
HP:0000491HP:0000491Keratitis0POLH CL E G H542990342ORPHA1802999181603968
HP:0000491HP:0000491Keratitis0POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM1802999181603968
HP:0000491HP:0000491Keratitis0TGM1 CL E G H705179394ORPHA118947311777190195
HP:0000491HP:0000491Keratitis0TP63 CL E G H86261896Dominant cleft palateORPHA112836915979603273
HP:0000491HP:0000491Keratitis0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA15121412814611153
HP:0000491HP:0000491Keratitis0XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM15121412814611153
HP:0000491HP:0000491Keratitis0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA110050512816613208
HP:0000491HP:0000491Keratitis0XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM110050512816613208
HP:0000491HP:0000491Keratitis0ZEB1 CL E G H6935613270Corneal dystrophy, Fuchs endothelial, 6613270C2750448OMIM1524511642189909
HP:0000491HP:0000491Keratitis1ABCA12 CL E G H2615479394ORPHA113632814637607800
HP:0000491HP:0000491Keratitis1ALOX12B CL E G H24279394ORPHA164283430603741
HP:0000491HP:0000491Keratitis1ALOXE3 CL E G H5934479394ORPHA12220013743607206
HP:0000491HP:0000491Keratitis1CERS3 CL E G H20421979394ORPHA1915923752615276
HP:0000491HP:0000491Keratitis1CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM137682364604237
HP:0000491HP:0000491Keratitis1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA117942718600811
HP:0000491HP:0000491Keratitis1DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM117942718600811
HP:0000491HP:0000491Keratitis1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA11083193434126340
HP:0000491HP:0000491Keratitis1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11083193434126340
HP:0000491HP:0000491Keratitis1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA1201713435133510
HP:0000491HP:0000491Keratitis1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA1724503436133520
HP:0000491HP:0000491Keratitis1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA1593363437133530
HP:0000491HP:0000491Keratitis1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM11408153438609413
HP:0000491HP:0000491Keratitis1FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM11594463689176943
HP:0000491HP:0000491Keratitis1GJB2 CL E G H2706477ORPHA14104534284121011
HP:0000491HP:0000491Keratitis1GJB6 CL E G H10804477ORPHA1342004288604418
HP:0000491HP:0000491Keratitis1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11513205961300248
HP:0000491HP:0000491Keratitis1MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM12622815455300294
HP:0000491HP:0000491Keratitis1MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM12622815455300294
HP:0000491HP:0000491Keratitis1NIPAL4 CL E G H34893879394ORPHA11814528018609383
HP:0000491HP:0000491Keratitis1NLRP3 CL E G H114548148200Keratitis fugax hereditaria148200C1835697OMIM114258316400606416
HP:0000491HP:0000491Keratitis1NOD2 CL E G H6412790340ORPHA11215575331605956
HP:0000491HP:0000491Keratitis1NTRK1 CL E G H4914256800Hereditary insensitivity to pain with anhidrosis256800C0020074OMIM11267228031191315
HP:0000491HP:0000491Keratitis1PAX6 CL E G H5080148190Keratitis, hereditary148190C1835698OMIM15715708620607108
HP:0000491HP:0000491Keratitis1PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM110433369069601282
HP:0000491HP:0000491Keratitis1PNPLA1 CL E G H28584879394ORPHA14613621246612121
HP:0000491HP:0000491Keratitis1POLH CL E G H542990342ORPHA1802999181603968
HP:0000491HP:0000491Keratitis1POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM1802999181603968
HP:0000491HP:0000491Keratitis1TGM1 CL E G H705179394ORPHA118947311777190195
HP:0000491HP:0000491Keratitis1TP63 CL E G H86261896Dominant cleft palateORPHA112836915979603273
HP:0000491HP:0000491Keratitis1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA15121412814611153
HP:0000491HP:0000491Keratitis1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM15121412814611153
HP:0000491HP:0000491Keratitis1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA110050512816613208
HP:0000491HP:0000491Keratitis1XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM110050512816613208
HP:0000491HP:0000491Keratitis1ZEB1 CL E G H6935613270Corneal dystrophy, Fuchs endothelial, 6613270C2750448OMIM1524511642189909
HP:0000491HP:0000491Keratitis2ABCA12 CL E G H2615479394ORPHA113632814637607800
HP:0000491HP:0000491Keratitis2ALOX12B CL E G H24279394ORPHA164283430603741
HP:0000491HP:0000491Keratitis2ALOXE3 CL E G H5934479394ORPHA12220013743607206
HP:0000491HP:0000491Keratitis2CERS3 CL E G H20421979394ORPHA1915923752615276
HP:0000491HP:0000491Keratitis2CRLF1 CL E G H9244272430Cold-induced sweating syndrome 1272430C1848947OMIM137682364604237
HP:0000491HP:0000491Keratitis2DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA117942718600811
HP:0000491HP:0000491Keratitis2DDB2 CL E G H1643278740Xeroderma pigmentosum, group E278740C1848411OMIM117942718600811
HP:0000491HP:0000491Keratitis2ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA11083193434126340
HP:0000491HP:0000491Keratitis2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM11083193434126340
HP:0000491HP:0000491Keratitis2ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA1201713435133510
HP:0000491HP:0000491Keratitis2ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA1724503436133520
HP:0000491HP:0000491Keratitis2ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA1593363437133530
HP:0000491HP:0000491Keratitis2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM11408153438609413
HP:0000491HP:0000491Keratitis2FGFR2 CL E G H2263123500Crouzon syndrome123500C0010273OMIM11594463689176943
HP:0000491HP:0000491Keratitis2GJB2 CL E G H2706477ORPHA14104534284121011
HP:0000491HP:0000491Keratitis2GJB6 CL E G H10804477ORPHA1342004288604418
HP:0000491HP:0000491Keratitis2IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11513205961300248
HP:0000491HP:0000491Keratitis2MBTPS2 CL E G H51360308205IFAP syndrome with or without BRESHECK syndrome308205C1839988OMIM12622815455300294
HP:0000491HP:0000491Keratitis2MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM12622815455300294
HP:0000491HP:0000491Keratitis2NIPAL4 CL E G H34893879394ORPHA11814528018609383
HP:0000491HP:0000491Keratitis2NLRP3 CL E G H114548148200Keratitis fugax hereditaria148200C1835697OMIM114258316400606416
HP:0000491HP:0000491Keratitis2NOD2 CL E G H6412790340ORPHA11215575331605956
HP:0000491HP:0000491Keratitis2NTRK1 CL E G H4914256800Hereditary insensitivity to pain with anhidrosis256800C0020074OMIM11267228031191315
HP:0000491HP:0000491Keratitis2PAX6 CL E G H5080148190Keratitis, hereditary148190C1835698OMIM15715708620607108
HP:0000491HP:0000491Keratitis2PLEC CL E G H5339226670Epidermolysa bullosa simplex and limb girdle muscular dystrophy226670C2931072OMIM110433369069601282
HP:0000491HP:0000491Keratitis2PNPLA1 CL E G H28584879394ORPHA14613621246612121
HP:0000491HP:0000491Keratitis2POLH CL E G H542990342ORPHA1802999181603968
HP:0000491HP:0000491Keratitis2POLH CL E G H5429278750Xeroderma pigmentosum, variant type278750C1848410OMIM1802999181603968
HP:0000491HP:0000491Keratitis2TGM1 CL E G H705179394ORPHA118947311777190195
HP:0000491HP:0000491Keratitis2TP63 CL E G H86261896Dominant cleft palateORPHA112836915979603273
HP:0000491HP:0000491Keratitis2XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA15121412814611153
HP:0000491HP:0000491Keratitis2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM15121412814611153
HP:0000491HP:0000491Keratitis2XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA110050512816613208
HP:0000491HP:0000491Keratitis2XPC CL E G H7508278720Xeroderma pigmentosum, group C278720C2752147OMIM110050512816613208
HP:0000491HP:0000491Keratitis2ZEB1 CL E G H6935613270Corneal dystrophy, Fuchs endothelial, 6613270C2750448OMIM1524511642189909
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000491HP:0000491Keratitis0COL7A1 CL E G H129479409ORPHA082816442214120120
HP:0000491HP:0000491Keratitis0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01513205961300248
HP:0000491HP:0000491Keratitis0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02622815455300294
HP:0000491HP:0000491Keratitis0WAS CL E G H7454906ORPHA044141212731300392
HP:0000491HP:0000491Keratitis0WIPF1 CL E G H7456906ORPHA0315812736602357
HP:0000491HP:0000491Keratitis1COL7A1 CL E G H129479409ORPHA082816442214120120
HP:0000491HP:0000491Keratitis1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01513205961300248
HP:0000491HP:0000491Keratitis1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02622815455300294
HP:0000491HP:0000491Keratitis1WAS CL E G H7454906ORPHA044141212731300392
HP:0000491HP:0000491Keratitis1WIPF1 CL E G H7456906ORPHA0315812736602357
HP:0000491HP:0000491Keratitis2COL7A1 CL E G H129479409ORPHA082816442214120120
HP:0000491HP:0000491Keratitis2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01513205961300248
HP:0000491HP:0000491Keratitis2MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA02622815455300294
HP:0000491HP:0000491Keratitis2WAS CL E G H7454906ORPHA044141212731300392
HP:0000491HP:0000491Keratitis2WIPF1 CL E G H7456906ORPHA0315812736602357


Genes (65) :ABCA12 AIRE ALOX12B ALOXE3 B2M BTD BTNL2 C4A CCR1 CERS3 COL7A1 CRLF1 DDB2 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 FAS FGFR2 FOXE3 GATA1 GJB2 GJB6 HLA-B HLA-DRB1 HLCS IKBKG IL10 IL12A IL12A-AS1 IL23R KLRC4 LBR LMNA MBTPS2 MEFV MPLKIP NIPAL4 NLRP1 NLRP3 NOD2 NTRK1 PAX6 PITX3 PLEC PLG PNPLA1 POLH RNF125 SCN9A STAT4 TGM1 TLR4 TNXB TP63 UBAC2 UROS WAS WIPF1 XPA XPC ZEB1 ZMPSTE24

Diseases (45) :79394 79409 272430 910 278740 278730 278800 123500 477 464 308300 2273 308205 308800 148200 90340 256800 148190 226670 90342 278750 1896 906 278700 278720 613270 240300 79241 79277 602540 79242 617388 97231 314652 797 117 601675 88632 148210 779 740 234050 616260 133020 285
 

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