Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
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Abnormal cornea morphology (HP:0000481)help
..Starting node
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Abnormal corneal epithelium morphology (HP:0011495)help
Term ID: 11495
Name: Abnormal corneal epithelium morphology
Synonym: Abnormality of corneal epithelium
Definition: Abnormality of the corneal epithelium, that is of the epithelial tissue that covers the front of the cornea.
Comments:
Reference: HP:0011495
Genes and Diseases:
 
       Child Nodes:
........expandKeratitis (HP:0000491) help
................... HP:0001096 Keratoconjunctivitis
................... HP:0011859 Punctate keratitis
........expandCorneal ulceration (HP:0012804) help
................... HP:0007812 Herpetiform corneal ulceration
........expandCorneal erosion (HP:0200020) help
................... HP:0000495 Recurrent corneal erosions
................... HP:0000584 Punctate corneal epithelial erosions
................... HP:0007690 Map-dot-fingerprint corneal dystrophy
................... HP:0007755 Juvenile epithelial corneal dystrophy

 Sister Nodes: 
..expandAbnormal corneal endothelium morphology (HP:0011488) help
..expandAbnormality of corneal shape (HP:0040004) help
..expandAbnormality of corneal size (HP:0001120) help
..expandAbnormality of corneal stroma (HP:0011492) help
..expandAbnormality of corneal thickness (HP:0011486) help
..expandAbnormality of the corneal limbus (HP:0025348) help
..expandAbnormality of the curvature of the cornea (HP:0100691) help
..expandAbnormality of the line of Schwalbe (HP:0008048) help
..expandCornea verticillata (HP:0500008) help
..expandCorneal degeneration (HP:0007705) help
..expandCorneal dystrophy (HP:0001131) help
..expandCorneal neovascularization (HP:0011496) help
..expandCorneal opacity (HP:0007957) help
..expandCorneal perforation (HP:0100583) help
..expandDecreased corneal reflex (HP:0008000) help
..expandDecreased corneal sensation (HP:0012155) help
..expandLimbal dermoid (HP:0001140) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011495HP:0011495Abnormal corneal epithelium morphology0 CL E G H
HP:0011495HP:0011495Abnormal corneal epithelium morphology1 CL E G H
HP:0011495HP:0011495Abnormal corneal epithelium morphology2 CL E G H
HP:0011495HP:0011495Abnormal corneal epithelium morphology3 CL E G H


Genes (92) :ABCA12 AIRE ALDH3A2 ALOX12B ALOXE3 B2M BTD BTNL2 C4A CCR1 CERS3 CHST6 COL17A1 COL4A3 COL4A4 COL4A5 COL7A1 CRLF1 CTNS DDB2 ELP1 ERAP1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 FAS FERMT1 FGF10 FGFR2 FGFR3 FOXC2 FOXE3 GATA1 GJB2 GJB6 GNPTAB HLA-B HLA-DRB1 HLCS IKBKG IKZF1 IL10 IL12A IL12A-AS1 IL23R KIF1BP KLRC4 LBR LMNA MBTPS2 MEFV MMP1 MPLKIP MPV17 NGLY1 NIPAL4 NLRP1 NLRP3 NOD2 NTRK1 PAX6 PITX3 PLCG2 PLEC PLG PNPLA1 POLH PRDM12 PRDM5 RNF125 SCN9A SLC39A4 SPINT2 STAT4 TAT TGFBI TGM1 TLR4 TNXB TP63 TWIST2 UBAC2 UROS WAS WIPF1 XPA XPC ZEB1 ZMPSTE24 ZNF469

Diseases (78) :79394 816 122400 203780 301050 79409 231568 79408 89842 272430 910 278740 1764 223900 278730 278800 173650 87 123500 33001 153400 88632 477 148210 576 36426 464 308300 609460 2273 308205 308800 615273 148200 90340 256800 148190 614878 226670 90342 278750 616488 90354 37 270420 608471 608470 1896 920 906 278700 278720 613270 240300 79241 217800 219800 149730 79277 602540 79242 256810 617388 97231 276600 121820 122200 602082 314652 797 117 601675 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.