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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Corneal perforation (HP:0100583)help
Term ID: 100583
Name: Corneal perforation
Synonym: Iridocele
Definition: A rupture of the cornea through which a portion of the iris protrudes.
Comments:
Reference: HP:0100583
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal corneal endothelium morphology (HP:0011488) help
..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
..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:0100583HP:0100583Corneal perforation0FGF10 CL E G H2255149730Levy-Hollister syndrome149730C0265269OMIM116473666602115
HP:0100583HP:0100583Corneal perforation0FGFR2 CL E G H2263149730Levy-Hollister syndrome149730C0265269OMIM11593363689176943
HP:0100583HP:0100583Corneal perforation0FGFR3 CL E G H2261149730Levy-Hollister syndrome149730C0265269OMIM1774313690134934
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (3) :FGF10 FGFR2 FGFR3

Diseases (1) :149730
 

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