Human Phenotype Ontology 
Grandparent Node:
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Abnormal corneal stroma morphology (HP:0011492)help
Grandparent Node:
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Corneal opacity (HP:0007957)help
Parent Node:
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Opacification of the corneal stroma (HP:0007759)help
..Starting node
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Central opacification of the cornea (HP:0011493)help
Term ID: 11493
Name: Central opacification of the cornea
Synonym:
Definition: Reduced transparency of the central portion of the corneal stroma.
Comments:
Reference: HP:0011493
Genes and Diseases:
 
       Child Nodes:
........expandBand keratopathy (HP:0000585) help
........expandCentral corneal dystrophy (HP:0007881) help
................... HP:0100690 Mosaic central corneal dystrophy
........expandCentral posterior corneal opacity (HP:0008511) help

 Sister Nodes: 
..expandCorneal crystals (HP:0000531) help
..expandGeneralized opacification of the cornea (HP:0011494) help
..expandPeripheral opacification of the cornea (HP:0008011) help
..expandPunctate opacification of the cornea (HP:0007856) 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:0011493HP:0011493Central opacification of the cornea0ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0011493HP:0011493Central opacification of the cornea0CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritis8
HP:0011493HP:0011493Central opacification of the cornea0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0011493HP:0011493Central opacification of the cornea0CYP1B1 CL E G H15452597ORPHA:708Peters anomalyHP:0040281 - Very frequent101
HP:0011493HP:0011493Central opacification of the cornea0FOXC1 CL E G H22963800ORPHA:708Peters anomalyHP:0040281 - Very frequent63
HP:0011493HP:0011493Central opacification of the cornea0FOXE3 CL E G H23013808ORPHA:708Peters anomalyHP:0040281 - Very frequent23
HP:0011493HP:0011493Central opacification of the cornea0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0011493HP:0011493Central opacification of the cornea0IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritis65
HP:0011493HP:0011493Central opacification of the cornea0IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0011493HP:0011493Central opacification of the cornea0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0011493HP:0011493Central opacification of the cornea0NOD2 CL E G H641275331OMIM:186580Blau syndrome187
HP:0011493HP:0011493Central opacification of the cornea0OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0011493HP:0011493Central opacification of the cornea0PAX6 CL E G H50808620ORPHA:708Peters anomalyHP:0040281 - Very frequent194
HP:0011493HP:0011493Central opacification of the cornea0PITX2 CL E G H53089005ORPHA:708Peters anomalyHP:0040281 - Very frequent51
HP:0011493HP:0011493Central opacification of the cornea0PTPN2 CL E G H57719650ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0011493HP:0011493Central opacification of the cornea0PTPN22 CL E G H261919652ORPHA:85410Oligoarticular juvenile idiopathic arthritis3
HP:0011493HP:0011493Central opacification of the cornea0SLC4A4 CL E G H867111030OMIM:604278Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation89
HP:0011493HP:0011493Central opacification of the cornea0STAT4 CL E G H677511365ORPHA:85410Oligoarticular juvenile idiopathic arthritis2
HP:0011493HP:0011493Central opacification of the cornea0TGFBI CL E G H704511771ORPHA:98962Granular corneal dystrophy type I58
HP:0011493HP:0011493Central opacification of the cornea0TGFBI CL E G H704511771ORPHA:98963Granular corneal dystrophy type II58
HP:0011493HP:0011493Central opacification of the cornea0TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type IHP:0040281 - Very frequent58
HP:0011493HP:0011493Central opacification of the cornea0TGFBI CL E G H704511771ORPHA:98960Thiel-Behnke corneal dystrophy58
HP:0011493HP:0011493Central opacification of the cornea0VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0011493HP:0000585Band keratopathy1ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0011493HP:0000585Band keratopathy1CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional8
HP:0011493HP:0000585Band keratopathy1COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1.177
HP:0011493HP:0000585Band keratopathy1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0011493HP:0000585Band keratopathy1IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional65
HP:0011493HP:0000585Band keratopathy1IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0011493HP:0000585Band keratopathy1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0011493HP:0000585Band keratopathy1NOD2 CL E G H641275331OMIM:186580Blau syndrome.187
HP:0011493HP:0000585Band keratopathy1OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0011493HP:0000585Band keratopathy1PTPN2 CL E G H57719650ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0011493HP:0000585Band keratopathy1PTPN22 CL E G H261919652ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional3
HP:0011493HP:0000585Band keratopathy1SLC4A4 CL E G H867111030OMIM:604278Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation.89
HP:0011493HP:0000585Band keratopathy1STAT4 CL E G H677511365ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0011493HP:0007881Central corneal dystrophy1TGFBI CL E G H704511771ORPHA:98962Granular corneal dystrophy type I58
HP:0011493HP:0008511Central posterior corneal opacity1TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type IHP:0040283 - Occasional58
HP:0011493HP:0007881Central corneal dystrophy1TGFBI CL E G H704511771ORPHA:98960Thiel-Behnke corneal dystrophyHP:0040281 - Very frequent58
HP:0011493HP:0000585Band keratopathy1VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0011493HP:0032935Posterior crocodile shagreen of the cornea2 CL E G H
HP:0011493HP:0100690Mosaic central corneal dystrophy2 CL E G H


Genes (20) :ANKRD55 CD247 COL18A1 CYP1B1 FOXC1 FOXE3 GNAS IL2RA IL2RB JAG1 NOD2 OVOL2 PAX6 PITX2 PTPN2 PTPN22 SLC4A4 STAT4 TGFBI VSX1

Diseases (13) :ORPHA:85410 OMIM:267750 ORPHA:708 ORPHA:79443 OMIM:118450 OMIM:186580 OMIM:122000 OMIM:604278 ORPHA:98962 ORPHA:98963 ORPHA:98964 ORPHA:98960 OMIM:614195
 

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