Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Parent Node:
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Abnormal cornea morphology (HP:0000481)help
..Starting node
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Abnormal corneal endothelium morphology (HP:0011488)help
Term ID: 11488
Name: Abnormal corneal endothelium morphology
Synonym: Abnormality of corneal endothelium
Definition: Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea.
Comments:
Reference: HP:0011488
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal migration of corneal endothelium (HP:0011489) help
................... HP:0007915 Polymorphous posterior corneal dystrophy
........expandAbnormality of Descemet's membrane (HP:0011490) help
................... HP:0012038 Corneal guttata
................... HP:0012039 Descemet Membrane Folds
................... HP:0031159 Thinning of Descemet membrane
........expandReduced number of corneal endothelial cells (HP:0011491) help
................... HP:0007915 Polymorphous posterior corneal dystrophy
........expandCorneal keratic precipitates (HP:0025341) help

 Sister Nodes: 
..expandAbnormal corneal epithelium morphology (HP:0011495) help
..expandAbnormality of corneal shape (HP:0040004) help
..expandAbnormality of corneal size (HP:0001120) help
..expandAbnormality of corneal stroma (HP:0011492) help
..expandAbnormality of corneal thickness (HP:0011486) help
..expandAbnormality of the corneal limbus (HP:0025348) help
..expandAbnormality of the curvature of the cornea (HP:0100691) help
..expandAbnormality of the line of Schwalbe (HP:0008048) help
..expandCornea verticillata (HP:0500008) help
..expandCorneal degeneration (HP:0007705) help
..expandCorneal dystrophy (HP:0001131) help
..expandCorneal neovascularization (HP:0011496) help
..expandCorneal opacity (HP:0007957) help
..expandCorneal perforation (HP:0100583) help
..expandDecreased corneal reflex (HP:0008000) help
..expandDecreased corneal sensation (HP:0012155) help
..expandLimbal dermoid (HP:0001140) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0011488HP:0011488Abnormal corneal endothelium morphology0VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM12410312723605020
HP:0011488HP:0011488Abnormal corneal endothelium morphology1VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM12410312723605020
HP:0011488HP:0011488Abnormal corneal endothelium morphology2VSX1 CL E G H30813614195Craniofacial anomalies and anterior segment dysgenesis syndrome614195C3280099OMIM12410312723605020
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (10) :COL8A2 CYP1B1 FOXC1 FOXE3 OVOL2 PAX6 PITX2 SLC4A11 VSX1 ZEB1

Diseases (8) :614195 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.