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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000585HP:0000585Band keratopathy0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1364472195120328
HP:0000585HP:0000585Band keratopathy0JAG1 CL E G H182118450Alagille syndrome 1118450C1956125OMIM16206456188601920
HP:0000585HP:0000585Band keratopathy0NOD2 CL E G H64127186580Blau syndrome186580C1861303OMIM11214425331605956
HP:0000585HP:0000585Band keratopathy0OVOL2 CL E G H58495122000Posterior polymorphous corneal dystrophy 1122000CN029625OMIM142815804616441
HP:0000585HP:0000585Band keratopathy0SLC4A4 CL E G H8671604278Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation604278C1970309OMIM12218711030603345
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000585HP:0000585Band keratopathy0GNAS CL E G H277879443ORPHA02792164392139320


Genes (6) :COL18A1 GNAS JAG1 NOD2 OVOL2 SLC4A4

Diseases (6) :267750 79443 118450 186580 122000 604278
 

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