Human Phenotype Ontology 
Grandparent Node:
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Abnormal cornea morphology (HP:0000481)help
Parent Node:
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Abnormal corneal epithelium morphology (HP:0011495)help
..Starting node
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Corneal erosion (HP:0200020)help
Term ID: 200020
Name: Corneal erosion
Synonym: Damage to outer layer of the cornea of the eye
Definition: An erosion or abrasion of the cornea's outermost layer of epithelial cells.
Comments:
Reference: HP:0200020
Genes and Diseases:
 
       Child Nodes:
........expandRecurrent corneal erosions (HP:0000495) help
........expandPunctate corneal epithelial erosions (HP:0000584) help
........expandMap-dot-fingerprint corneal dystrophy (HP:0007690) help
........expandJuvenile epithelial corneal dystrophy (HP:0007755) help

 Sister Nodes: 
..expandCorneal ulceration (HP:0012804) help
..expandKeratitis (HP:0000491) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0200020HP:0200020Corneal erosion0ABCA12 CL E G H2615479394ORPHA113629414637607800
HP:0200020HP:0200020Corneal erosion0ALDH3A2 CL E G H224816ORPHA1111308403609523
HP:0200020HP:0200020Corneal erosion0ALOX12B CL E G H24279394ORPHA164156430603741
HP:0200020HP:0200020Corneal erosion0ALOXE3 CL E G H5934479394ORPHA12213813743607206
HP:0200020HP:0200020Corneal erosion0CERS3 CL E G H20421979394ORPHA1912023752615276
HP:0200020HP:0200020Corneal erosion0COL17A1 CL E G H1308122400Epithelial recurrent erosion dystrophy122400C1852551OMIM11142592194113811
HP:0200020HP:0200020Corneal erosion0COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM12726132204120070
HP:0200020HP:0200020Corneal erosion0COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM12336882206120131
HP:0200020HP:0200020Corneal erosion0COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM1100013572207303630
HP:0200020HP:0200020Corneal erosion0COL7A1 CL E G H129479408ORPHA18286912214120120
HP:0200020HP:0200020Corneal erosion0COL7A1 CL E G H129479409ORPHA18286912214120120
HP:0200020HP:0200020Corneal erosion0ELP1 CL E G H85181764ORPHA166605959603722
HP:0200020HP:0200020Corneal erosion0FERMT1 CL E G H55612173650Kindler's syndrome173650C0406557OMIM18322515889607900
HP:0200020HP:0200020Corneal erosion0FOXC2 CL E G H230333001ORPHA197983801602402
HP:0200020HP:0200020Corneal erosion0FOXE3 CL E G H230188632ORPHA131863808601094
HP:0200020HP:0200020Corneal erosion0GNPTAB CL E G H79158576ORPHA118846229670607840
HP:0200020HP:0200020Corneal erosion0KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0200020HP:0200020Corneal erosion0MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA12620715455300294
HP:0200020HP:0200020Corneal erosion0MMP1 CL E G H431279408ORPHA18337155120353
HP:0200020HP:0200020Corneal erosion0NIPAL4 CL E G H34893879394ORPHA11812928018609383
HP:0200020HP:0200020Corneal erosion0PITX3 CL E G H530988632ORPHA115299006602669
HP:0200020HP:0200020Corneal erosion0PNPLA1 CL E G H28584879394ORPHA14611521246612121
HP:0200020HP:0200020Corneal erosion0SPINT2 CL E G H10653270420Congenital secretory diarrhea, sodium type270420C0267663OMIM1122011247605124
HP:0200020HP:0200020Corneal erosion0TGFBI CL E G H7045608471Lattice corneal dystrophy type 3A608471C1837974OMIM17011911771601692
HP:0200020HP:0200020Corneal erosion0TGFBI CL E G H7045608470Reis-Bucklers' corneal dystrophy608470C0339278OMIM17011911771601692
HP:0200020HP:0200020Corneal erosion0TGM1 CL E G H705179394ORPHA118929611777190195
HP:0200020HP:0200020Corneal erosion0TP63 CL E G H86261896Dominant cleft palateORPHA112828215979603273
HP:0200020HP:0200020Corneal erosion1ABCA12 CL E G H2615479394ORPHA113629414637607800
HP:0200020HP:0200020Corneal erosion1ALDH3A2 CL E G H224816ORPHA1111308403609523
HP:0200020HP:0200020Corneal erosion1ALOX12B CL E G H24279394ORPHA164156430603741
HP:0200020HP:0200020Corneal erosion1ALOXE3 CL E G H5934479394ORPHA12213813743607206
HP:0200020HP:0200020Corneal erosion1CERS3 CL E G H20421979394ORPHA1912023752615276
HP:0200020HP:0200020Corneal erosion1COL17A1 CL E G H1308122400Epithelial recurrent erosion dystrophy122400C1852551OMIM11142592194113811
HP:0200020HP:0200020Corneal erosion1COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM12726132204120070
HP:0200020HP:0200020Corneal erosion1COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM12336882206120131
HP:0200020HP:0200020Corneal erosion1COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM1100013572207303630
HP:0200020HP:0200020Corneal erosion1COL7A1 CL E G H129479408ORPHA18286912214120120
HP:0200020HP:0200020Corneal erosion1COL7A1 CL E G H129479409ORPHA18286912214120120
HP:0200020HP:0200020Corneal erosion1ELP1 CL E G H85181764ORPHA166605959603722
HP:0200020HP:0200020Corneal erosion1FERMT1 CL E G H55612173650Kindler's syndrome173650C0406557OMIM18322515889607900
HP:0200020HP:0200020Corneal erosion1FOXC2 CL E G H230333001ORPHA197983801602402
HP:0200020HP:0200020Corneal erosion1FOXE3 CL E G H230188632ORPHA131863808601094
HP:0200020HP:0200020Corneal erosion1GNPTAB CL E G H79158576ORPHA118846229670607840
HP:0200020HP:0200020Corneal erosion1KIF1BP CL E G H26128609460Goldberg-Shprintzen megacolon syndrome609460C1836123OMIM11023419609367
HP:0200020HP:0200020Corneal erosion1MBTPS2 CL E G H513602273Fara Chlupackova syndromeORPHA12620715455300294
HP:0200020HP:0200020Corneal erosion1MMP1 CL E G H431279408ORPHA18337155120353
HP:0200020HP:0200020Corneal erosion1NIPAL4 CL E G H34893879394ORPHA11812928018609383
HP:0200020HP:0200020Corneal erosion1PITX3 CL E G H530988632ORPHA115299006602669
HP:0200020HP:0200020Corneal erosion1PNPLA1 CL E G H28584879394ORPHA14611521246612121
HP:0200020HP:0200020Corneal erosion1SPINT2 CL E G H10653270420Congenital secretory diarrhea, sodium type270420C0267663OMIM1122011247605124
HP:0200020HP:0200020Corneal erosion1TGFBI CL E G H7045608471Lattice corneal dystrophy type 3A608471C1837974OMIM17011911771601692
HP:0200020HP:0200020Corneal erosion1TGFBI CL E G H7045608470Reis-Bucklers' corneal dystrophy608470C0339278OMIM17011911771601692
HP:0200020HP:0200020Corneal erosion1TGM1 CL E G H705179394ORPHA118929611777190195
HP:0200020HP:0200020Corneal erosion1TP63 CL E G H86261896Dominant cleft palateORPHA112828215979603273
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0200020HP:0200020Corneal erosion0COL7A1 CL E G H129489842ORPHA08286912214120120
HP:0200020HP:0200020Corneal erosion0COL7A1 CL E G H1294231568ORPHA08286912214120120
HP:0200020HP:0200020Corneal erosion0FGFR2 CL E G H226387ORPHA01593363689176943
HP:0200020HP:0200020Corneal erosion0GJB2 CL E G H2706477ORPHA04103854284121011
HP:0200020HP:0200020Corneal erosion0GJB6 CL E G H10804477ORPHA0341574288604418
HP:0200020HP:0200020Corneal erosion0HLA-B CL E G H310636426ORPHA053174932142830
HP:0200020HP:0200020Corneal erosion0IKZF1 CL E G H1032036426ORPHA0384213176603023
HP:0200020HP:0200020Corneal erosion0PLCG2 CL E G H5336614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated614878C3553961OMIM0133909066600220
HP:0200020HP:0200020Corneal erosion0PRDM5 CL E G H1110790354ORPHA0131319349614161
HP:0200020HP:0200020Corneal erosion0SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA05223617129607059
HP:0200020HP:0200020Corneal erosion0TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA098820670607556
HP:0200020HP:0200020Corneal erosion0ZNF469 CL E G H8462790354ORPHA06964123216612078
HP:0200020HP:0200020Corneal erosion1COL7A1 CL E G H1294231568ORPHA08286912214120120
HP:0200020HP:0200020Corneal erosion1COL7A1 CL E G H129489842ORPHA08286912214120120
HP:0200020HP:0200020Corneal erosion1FGFR2 CL E G H226387ORPHA01593363689176943
HP:0200020HP:0200020Corneal erosion1GJB2 CL E G H2706477ORPHA04103854284121011
HP:0200020HP:0200020Corneal erosion1GJB6 CL E G H10804477ORPHA0341574288604418
HP:0200020HP:0200020Corneal erosion1HLA-B CL E G H310636426ORPHA053174932142830
HP:0200020HP:0200020Corneal erosion1IKZF1 CL E G H1032036426ORPHA0384213176603023
HP:0200020HP:0200020Corneal erosion1PLCG2 CL E G H5336614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated614878C3553961OMIM0133909066600220
HP:0200020HP:0200020Corneal erosion1PRDM5 CL E G H1110790354ORPHA0131319349614161
HP:0200020HP:0200020Corneal erosion1SLC39A4 CL E G H5563037Chromosome 3, monosomy 3pC0795806ORPHA05223617129607059
HP:0200020HP:0200020Corneal erosion1TWIST2 CL E G H117581920Bone dysplasia Azouz typeORPHA098820670607556
HP:0200020HP:0200020Corneal erosion1ZNF469 CL E G H8462790354ORPHA06964123216612078


Genes (43) :ABCA12 ALDH3A2 ALOX12B ALOXE3 CERS3 CHST6 COL17A1 COL4A3 COL4A4 COL4A5 COL7A1 CTNS ELP1 FERMT1 FGF10 FGFR2 FGFR3 FOXC2 FOXE3 GATA1 GJB2 GJB6 GNPTAB HLA-B IKZF1 KIF1BP MBTPS2 MMP1 MPV17 NIPAL4 NTRK1 PITX3 PLCG2 PNPLA1 PRDM5 SLC39A4 SPINT2 TGFBI TGM1 TP63 TWIST2 UROS ZNF469

Diseases (40) :79394 816 122400 203780 301050 89842 79408 79409 231568 1764 173650 87 33001 88632 477 576 36426 609460 2273 614878 90354 37 270420 608471 608470 1896 920 217800 219800 223900 149730 153400 79277 148210 308205 256810 256800 121820 122200 602082
 

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