Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Corneal opacity (HP:0007957)

Parent Node:
Opacification of the corneal epithelium (HP:0007727)

..Starting node
..Subepithelial corneal opacities (HP:0008039)

Term ID:

8039

Name:

Subepithelial corneal opacities

Synonym:

Definition:

Comments:

Reference:

HP:0008039

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008039	HP:0008039	Subepithelial corneal opacities	0	COL17A1 CL E G H	1308	2194	ORPHA:293381	Epithelial recurrent erosion dystrophy	HP:0040281 - Very frequent	129
HP:0008039	HP:0008039	Subepithelial corneal opacities	0	TGFBI CL E G H	7045	11771	ORPHA:98962	Granular corneal dystrophy type I		58
HP:0008039	HP:0008039	Subepithelial corneal opacities	0	TGFBI CL E G H	7045	11771	ORPHA:98963	Granular corneal dystrophy type II		58
HP:0008039	HP:0008039	Subepithelial corneal opacities	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040282 - Frequent	58
HP:0008039	HP:0008039	Subepithelial corneal opacities	0	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy	HP:0040281 - Very frequent	58

Genes (2) :COL17A1 TGFBI

Diseases (5) :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.