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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0031159HP:0031159Thinning of Descemet membrane0CYP1B1 CL E G H1545708ORPHA12432392597601771
HP:0031159HP:0031159Thinning of Descemet membrane0FOXC1 CL E G H2296708ORPHA11392473800601090
HP:0031159HP:0031159Thinning of Descemet membrane0FOXE3 CL E G H2301708ORPHA1311463808601094
HP:0031159HP:0031159Thinning of Descemet membrane0PAX6 CL E G H5080708ORPHA15715708620607108
HP:0031159HP:0031159Thinning of Descemet membrane0PITX2 CL E G H5308708ORPHA11041669005601542
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031159HP:0031159Thinning of Descemet membrane0OVOL2 CL E G H58495122000Posterior polymorphous corneal dystrophy 1122000CN029625OMIM042915804616441


Genes (6) :CYP1B1 FOXC1 FOXE3 OVOL2 PAX6 PITX2

Diseases (2) :708 122000
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.