Human Phenotype Ontology 
Grandparent Node:
expandAbnormal cornea morphology (HP:0000481)help
Parent Node:
expandCorneal opacity (HP:0007957)help
..Starting node
..expandOpacification of the corneal epithelium (HP:0007727)help
Term ID: 7727
Name: Opacification of the corneal epithelium
Synonym: Superficial corneal opacities
Definition: Lack of transparency of the corneal epithelium.
Comments:
Reference: HP:0007727
Genes and Diseases:
 
       Child Nodes:
........expandSubepithelial corneal opacities (HP:0008039) help

 Sister Nodes: 
..expandCorneal scarring (HP:0000559) help
..expandKayser-Fleischer ring (HP:0200032) help
..expandOpacification of the corneal stroma (HP:0007759) help
..expandSclerocornea (HP:0000647) 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:0007727HP:0007727Opacification of the corneal epithelium0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome.87
HP:0007727HP:0007727Opacification of the corneal epithelium0COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophy129
HP:0007727HP:0007727Opacification of the corneal epithelium0TGFBI CL E G H704511771ORPHA:98962Granular corneal dystrophy type I58
HP:0007727HP:0007727Opacification of the corneal epithelium0TGFBI CL E G H704511771ORPHA:98963Granular corneal dystrophy type II58
HP:0007727HP:0007727Opacification of the corneal epithelium0TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type I58
HP:0007727HP:0007727Opacification of the corneal epithelium0TGFBI CL E G H704511771ORPHA:98960Thiel-Behnke corneal dystrophy58
HP:0007727HP:0008039Subepithelial corneal opacities1COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophyHP:0040281 - Very frequent129
HP:0007727HP:0008039Subepithelial corneal opacities1TGFBI CL E G H704511771ORPHA:98962Granular corneal dystrophy type I58
HP:0007727HP:0008039Subepithelial corneal opacities1TGFBI CL E G H704511771ORPHA:98963Granular corneal dystrophy type II58
HP:0007727HP:0008039Subepithelial corneal opacities1TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type IHP:0040282 - Frequent58
HP:0007727HP:0008039Subepithelial corneal opacities1TGFBI CL E G H704511771ORPHA:98960Thiel-Behnke corneal dystrophyHP:0040281 - Very frequent58


Genes (3) :ALDH3A2 COL17A1 TGFBI

Diseases (6) :OMIM:270200 ORPHA:293381 ORPHA:98962 ORPHA:98963 ORPHA:98964 ORPHA:98960
 

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