Human Phenotype Ontology 
Grandparent Node:
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Abnormal cornea morphology (HP:0000481)help
Parent Node:
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Abnormal corneal endothelium morphology (HP:0011488)help
..Starting node
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Abnormal Descemet membrane morphology (HP:0011490)help
Term ID: 11490
Name: Abnormal Descemet membrane morphology
Synonym: Abnormality of Descemet's membrane
Definition: Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium.
Comments:
Reference: HP:0011490
Genes and Diseases:
 
       Child Nodes:
........expandCorneal guttata (HP:0012038) help
........expandDescemet Membrane Folds (HP:0012039) help
........expandThinning of Descemet membrane (HP:0031159) help

 Sister Nodes: 
..expandAbnormal migration of corneal endothelium (HP:0011489) help
..expandCorneal keratic precipitates (HP:0025341) help
..expandReduced number of corneal endothelial cells (HP:0011491) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0011490HP:0011490Abnormal Descemet membrane morphology0CYP1B1 CL E G H1545617315Anterior segment dysgenesis 6617315C4310623OMIM12432392597601771
HP:0011490HP:0011490Abnormal Descemet membrane morphology1CYP1B1 CL E G H1545617315Anterior segment dysgenesis 6617315C4310623OMIM12432392597601771
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (9) :COL8A2 CYP1B1 FOXC1 FOXE3 OVOL2 PAX6 PITX2 SLC4A11 ZEB1

Diseases (7) :617315 136800 708 122000 613268 613270 609141
 

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