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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0200020HP:0200020Corneal erosion0ABCA12 CL E G H2615414637ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent130
HP:0200020HP:0200020Corneal erosion0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040282 - Frequent87
HP:0200020HP:0200020Corneal erosion0ALOX12B CL E G H242430ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent75
HP:0200020HP:0200020Corneal erosion0ALOXE3 CL E G H5934413743ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent63
HP:0200020HP:0200020Corneal erosion0CERS3 CL E G H20421923752ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent5
HP:0200020HP:0200020Corneal erosion0CHST6 CL E G H41666938ORPHA:98969Macular corneal dystrophy129
HP:0200020HP:0200020Corneal erosion0CHST6 CL E G H41666938OMIM:217800Macular dystrophy, corneal, 1129
HP:0200020HP:0200020Corneal erosion0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disabilityHP:0040283 - Occasional6
HP:0200020HP:0200020Corneal erosion0COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophy129
HP:0200020HP:0200020Corneal erosion0COL17A1 CL E G H13082194OMIM:122400Epithelial recurrent erosion dystrophy.129
HP:0200020HP:0200020Corneal erosion0COL4A3 CL E G H12852204OMIM:203780Alport syndrome, autosomal recessive.161
HP:0200020HP:0200020Corneal erosion0COL4A4 CL E G H12862206OMIM:203780Alport syndrome, autosomal recessive.174
HP:0200020HP:0200020Corneal erosion0COL4A5 CL E G H12872207OMIM:301050Alport syndrome, X-linked.678
HP:0200020HP:0200020Corneal erosion0COL7A1 CL E G H12942214ORPHA:89842Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate formHP:0040283 - Occasional263
HP:0200020HP:0200020Corneal erosion0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional263
HP:0200020HP:0200020Corneal erosion0COL7A1 CL E G H12942214ORPHA:79409Recessive dystrophic epidermolysis bullosa inversaHP:0040283 - Occasional263
HP:0200020HP:0200020Corneal erosion0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0200020HP:0200020Corneal erosion0ELP1 CL E G H85185959ORPHA:1764Familial dysautonomiaHP:0040282 - Frequent133
HP:0200020HP:0200020Corneal erosion0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0200020HP:0200020Corneal erosion0EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathyHP:0040283 - Occasional170
HP:0200020HP:0200020Corneal erosion0FERMT1 CL E G H5561215889OMIM:173650Kindler syndrome136
HP:0200020HP:0200020Corneal erosion0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0200020HP:0200020Corneal erosion0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome17
HP:0200020HP:0200020Corneal erosion0FGFR2 CL E G H22633689ORPHA:87Apert syndromeHP:0040283 - Occasional175
HP:0200020HP:0200020Corneal erosion0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome175
HP:0200020HP:0200020Corneal erosion0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0200020HP:0200020Corneal erosion0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome145
HP:0200020HP:0200020Corneal erosion0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0200020HP:0200020Corneal erosion0FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome20
HP:0200020HP:0200020Corneal erosion0FOXC2 CL E G H23033801ORPHA:33001Lymphedema-distichiasis syndromeHP:0040281 - Very frequent20
HP:0200020HP:0200020Corneal erosion0GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant199
HP:0200020HP:0200020Corneal erosion0GJB2 CL E G H27064284ORPHA:477KID syndromeHP:0040283 - Occasional199
HP:0200020HP:0200020Corneal erosion0GJB6 CL E G H108044288ORPHA:477KID syndromeHP:0040283 - Occasional56
HP:0200020HP:0200020Corneal erosion0HLA-B CL E G H31064932ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional4
HP:0200020HP:0200020Corneal erosion0IKZF1 CL E G H1032013176ORPHA:36426Stevens-Johnson syndromeHP:0040283 - Occasional8
HP:0200020HP:0200020Corneal erosion0KIFBP CL E G H2612823419OMIM:609460Goldberg-Shprintzen syndrome.
HP:0200020HP:0200020Corneal erosion0KRT3 CL E G H38506440OMIM:618767CORNEAL DYSTROPHY, MEESMANN, 2; MECD23
HP:0200020HP:0200020Corneal erosion0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040282 - Frequent22
HP:0200020HP:0200020Corneal erosion0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome22
HP:0200020HP:0200020Corneal erosion0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional6
HP:0200020HP:0200020Corneal erosion0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0200020HP:0200020Corneal erosion0NIPAL4 CL E G H34893828018ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent60
HP:0200020HP:0200020Corneal erosion0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0200020HP:0200020Corneal erosion0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0200020HP:0200020Corneal erosion0PERCC1 CL E G H10537104552293ORPHA:92050Congenital tufting enteropathyHP:0040283 - Occasional
HP:0200020HP:0200020Corneal erosion0PLCG2 CL E G H53369066OMIM:614878Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associatedHP:0040283 - Occasional21
HP:0200020HP:0200020Corneal erosion0PNPLA1 CL E G H28584821246ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent47
HP:0200020HP:0200020Corneal erosion0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040283 - Occasional58
HP:0200020HP:0200020Corneal erosion0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040283 - Occasional55
HP:0200020HP:0200020Corneal erosion0SPINT2 CL E G H1065311247OMIM:270420Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies.6
HP:0200020HP:0200020Corneal erosion0TGFBI CL E G H704511771OMIM:602082Corneal dystrophy of bowman layer, type II58
HP:0200020HP:0200020Corneal erosion0TGFBI CL E G H704511771OMIM:121820Corneal dystrophy, epithelial basement membrane58
HP:0200020HP:0200020Corneal erosion0TGFBI CL E G H704511771OMIM:122200Corneal dystrophy, lattice type I58
HP:0200020HP:0200020Corneal erosion0TGFBI CL E G H704511771OMIM:608471Corneal dystrophy, lattice type IIIA.58
HP:0200020HP:0200020Corneal erosion0TGFBI CL E G H704511771OMIM:608470Corneal dystrophy, Reis-Bucklers type58
HP:0200020HP:0200020Corneal erosion0TGFBI CL E G H704511771ORPHA:98962Granular corneal dystrophy type I58
HP:0200020HP:0200020Corneal erosion0TGFBI CL E G H704511771ORPHA:98963Granular corneal dystrophy type II58
HP:0200020HP:0200020Corneal erosion0TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type I58
HP:0200020HP:0200020Corneal erosion0TGFBI CL E G H704511771ORPHA:98960Thiel-Behnke corneal dystrophy58
HP:0200020HP:0200020Corneal erosion0TGM1 CL E G H705111777ORPHA:79394Congenital non-bullous ichthyosiform erythrodermaHP:0040282 - Frequent98
HP:0200020HP:0200020Corneal erosion0TP63 CL E G H862615979ORPHA:1896EEC syndromeHP:0040282 - Frequent140
HP:0200020HP:0200020Corneal erosion0TWIST2 CL E G H11758120670ORPHA:920Ablepharon macrostomia syndromeHP:0040283 - Occasional7
HP:0200020HP:0200020Corneal erosion0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0200020HP:0200020Corneal erosion0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040283 - Occasional397
HP:0200020HP:0000584Punctate corneal epithelial erosions1 CL E G H
HP:0200020HP:0000495Recurrent corneal erosions1CHST6 CL E G H41666938ORPHA:98969Macular corneal dystrophyHP:0040282 - Frequent129
HP:0200020HP:0000495Recurrent corneal erosions1CHST6 CL E G H41666938OMIM:217800Macular dystrophy, corneal, 1.129
HP:0200020HP:0000495Recurrent corneal erosions1COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophyHP:0040281 - Very frequent129
HP:0200020HP:0000495Recurrent corneal erosions1CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0200020HP:0000495Recurrent corneal erosions1ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III.133
HP:0200020HP:0000495Recurrent corneal erosions1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0200020HP:0000495Recurrent corneal erosions1FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0200020HP:0000495Recurrent corneal erosions1FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0200020HP:0000495Recurrent corneal erosions1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0200020HP:0000495Recurrent corneal erosions1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0200020HP:0000495Recurrent corneal erosions1FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0200020HP:0000495Recurrent corneal erosions1FOXC2 CL E G H23033801OMIM:153400Lymphedema-Distichiasis syndrome.20
HP:0200020HP:0000495Recurrent corneal erosions1GJB2 CL E G H27064284OMIM:148210Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant.199
HP:0200020HP:0000495Recurrent corneal erosions1KRT3 CL E G H38506440OMIM:618767CORNEAL DYSTROPHY, MEESMANN, 2; MECD23
HP:0200020HP:0000495Recurrent corneal erosions1MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0200020HP:0000495Recurrent corneal erosions1MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy.56
HP:0200020HP:0000495Recurrent corneal erosions1NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0200020HP:0007755Juvenile epithelial corneal dystrophy1TGFBI CL E G H704511771OMIM:602082Corneal dystrophy of bowman layer, type II.58
HP:0200020HP:0000495Recurrent corneal erosions1TGFBI CL E G H704511771OMIM:121820Corneal dystrophy, epithelial basement membrane.58
HP:0200020HP:0007690Map-dot-fingerprint corneal dystrophy1TGFBI CL E G H704511771OMIM:121820Corneal dystrophy, epithelial basement membrane.58
HP:0200020HP:0000495Recurrent corneal erosions1TGFBI CL E G H704511771OMIM:122200Corneal dystrophy, lattice type I.58
HP:0200020HP:0000495Recurrent corneal erosions1TGFBI CL E G H704511771ORPHA:98962Granular corneal dystrophy type I58
HP:0200020HP:0000495Recurrent corneal erosions1TGFBI CL E G H704511771ORPHA:98963Granular corneal dystrophy type II58
HP:0200020HP:0000495Recurrent corneal erosions1TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type IHP:0040282 - Frequent58
HP:0200020HP:0000495Recurrent corneal erosions1TGFBI CL E G H704511771ORPHA:98960Thiel-Behnke corneal dystrophyHP:0040282 - Frequent58


Genes (44) :ABCA12 ALDH3A2 ALOX12B ALOXE3 CERS3 CHST6 CLTCL1 COL17A1 COL4A3 COL4A4 COL4A5 COL7A1 CTNS ELP1 EPCAM FERMT1 FGF10 FGFR2 FGFR3 FOXC2 GJB2 GJB6 HLA-B IKZF1 KIFBP KRT3 MBTPS2 MMP1 MPV17 NIPAL4 NTRK1 PAX6 PERCC1 PLCG2 PNPLA1 PRDM5 SLC39A4 SPINT2 TGFBI TGM1 TP63 TWIST2 WT1 ZNF469

Diseases (47) :ORPHA:79394 ORPHA:816 ORPHA:98969 OMIM:217800 ORPHA:453510 ORPHA:293381 OMIM:122400 OMIM:203780 OMIM:301050 ORPHA:89842 ORPHA:79408 ORPHA:79409 OMIM:219800 ORPHA:1764 OMIM:223900 ORPHA:92050 OMIM:173650 ORPHA:2363 OMIM:149730 ORPHA:87 OMIM:153400 ORPHA:33001 OMIM:148210 ORPHA:477 ORPHA:36426 OMIM:609460 OMIM:618767 ORPHA:2273 OMIM:308205 OMIM:256810 OMIM:256800 OMIM:106210 OMIM:614878 ORPHA:90354 ORPHA:37 OMIM:270420 OMIM:602082 OMIM:121820 OMIM:122200 OMIM:608471 OMIM:608470 ORPHA:98962 ORPHA:98963 ORPHA:98964 ORPHA:98960 ORPHA:1896 ORPHA:920
 

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