Human Phenotype Ontology 
Grandparent Node:
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Abnormal corneal endothelium morphology (HP:0011488)help
Parent Node:
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Abnormal Descemet membrane morphology (HP:0011490)help
..Starting node
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Thinning of Descemet membrane (HP:0031159)help
Term ID: 31159
Name: Thinning of Descemet membrane
Synonym:
Definition: A reduction in the thickness of Descemet's membrane.
Comments:
Reference: HP:0031159
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCorneal guttata (HP:0012038) help
..expandDescemet Membrane Folds (HP:0012039) 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:0031159HP:0031159Thinning of Descemet membrane0CYP1B1 CL E G H15452597ORPHA:708Peters anomalyHP:0040281 - Very frequent101
HP:0031159HP:0031159Thinning of Descemet membrane0FOXC1 CL E G H22963800ORPHA:708Peters anomalyHP:0040281 - Very frequent63
HP:0031159HP:0031159Thinning of Descemet membrane0FOXE3 CL E G H23013808ORPHA:708Peters anomalyHP:0040281 - Very frequent23
HP:0031159HP:0031159Thinning of Descemet membrane0OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0031159HP:0031159Thinning of Descemet membrane0PAX6 CL E G H50808620ORPHA:708Peters anomalyHP:0040281 - Very frequent194
HP:0031159HP:0031159Thinning of Descemet membrane0PITX2 CL E G H53089005ORPHA:708Peters anomalyHP:0040281 - Very frequent51


Genes (6) :CYP1B1 FOXC1 FOXE3 OVOL2 PAX6 PITX2

Diseases (2) :ORPHA:708 OMIM:122000
 

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