Human Phenotype Ontology 
Grandparent Node:
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Opacification of the corneal stroma (HP:0007759)help
Parent Node:
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Central opacification of the cornea (HP:0011493)help
..Starting node
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Band keratopathy (HP:0000585)help
Term ID: 585
Name: Band keratopathy
Synonym: Calcific band keratopathy
Definition: An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.
Comments:
Reference: HP:0000585
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCentral corneal dystrophy (HP:0007881) help
..expandCentral posterior corneal opacity (HP:0008511) 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:0000585HP:0000585Band keratopathy0ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0000585HP:0000585Band keratopathy0CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional8
HP:0000585HP:0000585Band keratopathy0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1.177
HP:0000585HP:0000585Band keratopathy0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0000585HP:0000585Band keratopathy0IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional65
HP:0000585HP:0000585Band keratopathy0IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0000585HP:0000585Band keratopathy0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0000585HP:0000585Band keratopathy0NOD2 CL E G H641275331OMIM:186580Blau syndrome.187
HP:0000585HP:0000585Band keratopathy0OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0000585HP:0000585Band keratopathy0PTPN2 CL E G H57719650ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0000585HP:0000585Band keratopathy0PTPN22 CL E G H261919652ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional3
HP:0000585HP:0000585Band keratopathy0SLC4A4 CL E G H867111030OMIM:604278Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation.89
HP:0000585HP:0000585Band keratopathy0STAT4 CL E G H677511365ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0000585HP:0000585Band keratopathy0VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47


Genes (14) :ANKRD55 CD247 COL18A1 GNAS IL2RA IL2RB JAG1 NOD2 OVOL2 PTPN2 PTPN22 SLC4A4 STAT4 VSX1

Diseases (8) :ORPHA:85410 OMIM:267750 ORPHA:79443 OMIM:118450 OMIM:186580 OMIM:122000 OMIM:604278 OMIM:614195
 

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