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
..expandAbnormal corneal limbus morphology (HP:0025348) help
..expandAbnormal corneal stroma morphology (HP:0011492) help
..expandAbnormal line of Schwalbe morphology (HP:0008048) help
..expandAbnormality of corneal shape (HP:0040004) help
..expandAbnormality of corneal size (HP:0001120) help
..expandAbnormality of corneal thickness (HP:0011486) help
..expandAbnormality of the curvature of the cornea (HP:0100691) 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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011488HP:0011488Abnormal corneal endothelium morphology0AGBL1 CL E G H12362426504OMIM:615523Corneal dystrophy, fuchs endothelial, 83
HP:0011488HP:0011488Abnormal corneal endothelium morphology0AGBL1 CL E G H12362426504ORPHA:98974Fuchs endothelial corneal dystrophy3
HP:0011488HP:0011488Abnormal corneal endothelium morphology0COL8A2 CL E G H12962216OMIM:136800Corneal dystrophy, fuchs endothelial, 13
HP:0011488HP:0011488Abnormal corneal endothelium morphology0COL8A2 CL E G H12962216ORPHA:98974Fuchs endothelial corneal dystrophy3
HP:0011488HP:0011488Abnormal corneal endothelium morphology0COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophy3
HP:0011488HP:0011488Abnormal corneal endothelium morphology0CYP1B1 CL E G H15452597OMIM:617315ANTERIOR SEGMENT DYSGENESIS 6; ASGD6101
HP:0011488HP:0011488Abnormal corneal endothelium morphology0CYP1B1 CL E G H15452597ORPHA:708Peters anomaly101
HP:0011488HP:0011488Abnormal corneal endothelium morphology0FOXC1 CL E G H22963800ORPHA:708Peters anomaly63
HP:0011488HP:0011488Abnormal corneal endothelium morphology0FOXE3 CL E G H23013808ORPHA:708Peters anomaly23
HP:0011488HP:0011488Abnormal corneal endothelium morphology0GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophy33
HP:0011488HP:0011488Abnormal corneal endothelium morphology0KCNJ13 CL E G H37696259OMIM:193230Snowflake vitreoretinal degeneration42
HP:0011488HP:0011488Abnormal corneal endothelium morphology0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0011488HP:0011488Abnormal corneal endothelium morphology0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0011488HP:0011488Abnormal corneal endothelium morphology0OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0011488HP:0011488Abnormal corneal endothelium morphology0OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophy4
HP:0011488HP:0011488Abnormal corneal endothelium morphology0PAX6 CL E G H50808620ORPHA:708Peters anomaly194
HP:0011488HP:0011488Abnormal corneal endothelium morphology0PITX2 CL E G H53089005ORPHA:708Peters anomaly51
HP:0011488HP:0011488Abnormal corneal endothelium morphology0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0011488HP:0011488Abnormal corneal endothelium morphology0SLC4A11 CL E G H8395916438ORPHA:293603Congenital hereditary endothelial dystrophy type II66
HP:0011488HP:0011488Abnormal corneal endothelium morphology0SLC4A11 CL E G H8395916438OMIM:613268CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD466
HP:0011488HP:0011488Abnormal corneal endothelium morphology0SLC4A11 CL E G H8395916438OMIM:217700CORNEAL ENDOTHELIAL DYSTROPHY; CHED66
HP:0011488HP:0011488Abnormal corneal endothelium morphology0SLC4A11 CL E G H8395916438ORPHA:98974Fuchs endothelial corneal dystrophy66
HP:0011488HP:0011488Abnormal corneal endothelium morphology0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48
HP:0011488HP:0011488Abnormal corneal endothelium morphology0TCF4 CL E G H692511634ORPHA:98974Fuchs endothelial corneal dystrophy241
HP:0011488HP:0011488Abnormal corneal endothelium morphology0VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophy47
HP:0011488HP:0011488Abnormal corneal endothelium morphology0ZEB1 CL E G H693511642OMIM:613270Corneal dystrophy, fuchs endothelial, 68
HP:0011488HP:0011488Abnormal corneal endothelium morphology0ZEB1 CL E G H693511642OMIM:609141Corneal dystrophy, posterior polymorphous, 38
HP:0011488HP:0011488Abnormal corneal endothelium morphology0ZEB1 CL E G H693511642ORPHA:98974Fuchs endothelial corneal dystrophy8
HP:0011488HP:0011488Abnormal corneal endothelium morphology0ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophy8
HP:0011488HP:0025341Corneal keratic precipitates1 CL E G H
HP:0011488HP:0011490Abnormal Descemet membrane morphology1AGBL1 CL E G H12362426504OMIM:615523Corneal dystrophy, fuchs endothelial, 83
HP:0011488HP:0011491Reduced number of corneal endothelial cells1AGBL1 CL E G H12362426504ORPHA:98974Fuchs endothelial corneal dystrophy3
HP:0011488HP:0011490Abnormal Descemet membrane morphology1AGBL1 CL E G H12362426504ORPHA:98974Fuchs endothelial corneal dystrophy3
HP:0011488HP:0011490Abnormal Descemet membrane morphology1COL8A2 CL E G H12962216OMIM:136800Corneal dystrophy, fuchs endothelial, 13
HP:0011488HP:0011490Abnormal Descemet membrane morphology1COL8A2 CL E G H12962216ORPHA:98974Fuchs endothelial corneal dystrophy3
HP:0011488HP:0011491Reduced number of corneal endothelial cells1COL8A2 CL E G H12962216ORPHA:98974Fuchs endothelial corneal dystrophy3
HP:0011488HP:0011490Abnormal Descemet membrane morphology1COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040281 - Very frequent3
HP:0011488HP:0011491Reduced number of corneal endothelial cells1COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040281 - Very frequent3
HP:0011488HP:0011490Abnormal Descemet membrane morphology1CYP1B1 CL E G H15452597OMIM:617315ANTERIOR SEGMENT DYSGENESIS 6; ASGD6101
HP:0011488HP:0011490Abnormal Descemet membrane morphology1CYP1B1 CL E G H15452597ORPHA:708Peters anomaly101
HP:0011488HP:0011490Abnormal Descemet membrane morphology1FOXC1 CL E G H22963800ORPHA:708Peters anomaly63
HP:0011488HP:0011490Abnormal Descemet membrane morphology1FOXE3 CL E G H23013808ORPHA:708Peters anomaly23
HP:0011488HP:0011490Abnormal Descemet membrane morphology1GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040281 - Very frequent33
HP:0011488HP:0011491Reduced number of corneal endothelial cells1GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040281 - Very frequent33
HP:0011488HP:0011490Abnormal Descemet membrane morphology1KCNJ13 CL E G H37696259OMIM:193230Snowflake vitreoretinal degeneration42
HP:0011488HP:0011491Reduced number of corneal endothelial cells1OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0011488HP:0011489Abnormal migration of corneal endothelium1OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0011488HP:0011490Abnormal Descemet membrane morphology1OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0011488HP:0011491Reduced number of corneal endothelial cells1OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040281 - Very frequent4
HP:0011488HP:0011490Abnormal Descemet membrane morphology1OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040281 - Very frequent4
HP:0011488HP:0011490Abnormal Descemet membrane morphology1PAX6 CL E G H50808620ORPHA:708Peters anomaly194
HP:0011488HP:0011490Abnormal Descemet membrane morphology1PITX2 CL E G H53089005ORPHA:708Peters anomaly51
HP:0011488HP:0011490Abnormal Descemet membrane morphology1SLC4A11 CL E G H8395916438ORPHA:293603Congenital hereditary endothelial dystrophy type IIHP:0040281 - Very frequent66
HP:0011488HP:0011490Abnormal Descemet membrane morphology1SLC4A11 CL E G H8395916438OMIM:613268CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD466
HP:0011488HP:0011490Abnormal Descemet membrane morphology1SLC4A11 CL E G H8395916438OMIM:217700CORNEAL ENDOTHELIAL DYSTROPHY; CHED66
HP:0011488HP:0011490Abnormal Descemet membrane morphology1SLC4A11 CL E G H8395916438ORPHA:98974Fuchs endothelial corneal dystrophy66
HP:0011488HP:0011491Reduced number of corneal endothelial cells1SLC4A11 CL E G H8395916438ORPHA:98974Fuchs endothelial corneal dystrophy66
HP:0011488HP:0011491Reduced number of corneal endothelial cells1TCF4 CL E G H692511634ORPHA:98974Fuchs endothelial corneal dystrophy241
HP:0011488HP:0011490Abnormal Descemet membrane morphology1TCF4 CL E G H692511634ORPHA:98974Fuchs endothelial corneal dystrophy241
HP:0011488HP:0011490Abnormal Descemet membrane morphology1VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040281 - Very frequent47
HP:0011488HP:0011491Reduced number of corneal endothelial cells1VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040281 - Very frequent47
HP:0011488HP:0011490Abnormal Descemet membrane morphology1ZEB1 CL E G H693511642OMIM:613270Corneal dystrophy, fuchs endothelial, 68
HP:0011488HP:0011490Abnormal Descemet membrane morphology1ZEB1 CL E G H693511642OMIM:609141Corneal dystrophy, posterior polymorphous, 38
HP:0011488HP:0011491Reduced number of corneal endothelial cells1ZEB1 CL E G H693511642ORPHA:98974Fuchs endothelial corneal dystrophy8
HP:0011488HP:0011490Abnormal Descemet membrane morphology1ZEB1 CL E G H693511642ORPHA:98974Fuchs endothelial corneal dystrophy8
HP:0011488HP:0011491Reduced number of corneal endothelial cells1ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040281 - Very frequent8
HP:0011488HP:0011490Abnormal Descemet membrane morphology1ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040281 - Very frequent8
HP:0011488HP:0012038Corneal guttata2AGBL1 CL E G H12362426504OMIM:615523Corneal dystrophy, fuchs endothelial, 83
HP:0011488HP:0012039Descemet Membrane Folds2COL8A2 CL E G H12962216OMIM:136800Corneal dystrophy, fuchs endothelial, 1.3
HP:0011488HP:0012038Corneal guttata2COL8A2 CL E G H12962216OMIM:136800Corneal dystrophy, fuchs endothelial, 1.3
HP:0011488HP:0031159Thinning of Descemet membrane2CYP1B1 CL E G H15452597ORPHA:708Peters anomalyHP:0040281 - Very frequent101
HP:0011488HP:0031159Thinning of Descemet membrane2FOXC1 CL E G H22963800ORPHA:708Peters anomalyHP:0040281 - Very frequent63
HP:0011488HP:0031159Thinning of Descemet membrane2FOXE3 CL E G H23013808ORPHA:708Peters anomalyHP:0040281 - Very frequent23
HP:0011488HP:0012038Corneal guttata2KCNJ13 CL E G H37696259OMIM:193230Snowflake vitreoretinal degeneration42
HP:0011488HP:0007915Polymorphous posterior corneal dystrophy2OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0011488HP:0031159Thinning of Descemet membrane2OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0011488HP:0031159Thinning of Descemet membrane2PAX6 CL E G H50808620ORPHA:708Peters anomalyHP:0040281 - Very frequent194
HP:0011488HP:0031159Thinning of Descemet membrane2PITX2 CL E G H53089005ORPHA:708Peters anomalyHP:0040281 - Very frequent51
HP:0011488HP:0012038Corneal guttata2SLC4A11 CL E G H8395916438OMIM:613268CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4; FECD466
HP:0011488HP:0012038Corneal guttata2ZEB1 CL E G H693511642OMIM:613270Corneal dystrophy, fuchs endothelial, 68
HP:0011488HP:0012038Corneal guttata2ZEB1 CL E G H693511642OMIM:609141Corneal dystrophy, posterior polymorphous, 3.8


Genes (18) :AGBL1 COL8A2 CYP1B1 FOXC1 FOXE3 GRHL2 KCNJ13 LCA5 LRAT OVOL2 PAX6 PITX2 RPE65 SLC4A11 SPATA7 TCF4 VSX1 ZEB1

Diseases (14) :OMIM:615523 ORPHA:98974 OMIM:136800 ORPHA:98973 OMIM:617315 ORPHA:708 OMIM:193230 ORPHA:364055 OMIM:122000 ORPHA:293603 OMIM:613268 OMIM:217700 OMIM:613270 OMIM:609141
 

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