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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Descemet Membrane Folds (HP:0012039)help
Term ID: 12039
Name: Descemet Membrane Folds
Synonym:
Definition: Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea.
Comments:
Reference: HP:0012039
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCorneal guttata (HP:0012038) help
..expandThinning of Descemet membrane (HP:0031159) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012039HP:0012039Descemet Membrane Folds0COL8A2 CL E G H1296136800Corneal dystrophy, Fuchs endothelial 1136800C1850959OMIM18352216120252
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (1) :COL8A2

Diseases (1) :136800
 

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