Human Phenotype Ontology 
Grandparent Node:
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Abnormal cornea morphology (HP:0000481)help
Parent Node:
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Corneal opacity (HP:0007957)help
..Starting node
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Kayser-Fleischer ring (HP:0200032)help
Term ID: 200032
Name: Kayser-Fleischer ring
Synonym: Fleischer's ring; Fleischer-Kayser ring; Fleischer-Struempell ring
Definition: Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea.
Comments:
Reference: HP:0200032
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCorneal scarring (HP:0000559) help
..expandOpacification of the corneal epithelium (HP:0007727) 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:0200032HP:0200032Kayser-Fleischer ring0ATP7B CL E G H540870ORPHA:905Wilson diseaseHP:0040281 - Very frequent315
HP:0200032HP:0200032Kayser-Fleischer ring0ATP7B CL E G H540870OMIM:277900Wilson diseaseHP:0040281 - Very frequent315


Genes (1) :ATP7B

Diseases (2) :ORPHA:905 OMIM:277900
 

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