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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Abnormality of the corneal limbus (HP:0025348)help
Term ID: 25348
Name: Abnormality of the corneal limbus
Synonym:
Definition: An anomaly of the margin of the cornea overlapped by the sclera.
Comments:
Reference: HP:0025348
Genes and Diseases:
 
       Child Nodes:
........expandLimbal edema (HP:0025349) help

 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 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
..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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0025348HP:0025348Abnormality of the corneal limbus0PITX2 CL E G H5308180550Ring dermoid of cornea180550C1867155OMIM11041369005601542
HP:0025348HP:0025348Abnormality of the corneal limbus1PITX2 CL E G H5308180550Ring dermoid of cornea180550C1867155OMIM11041369005601542
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2) :PITX2 SERPING1

Diseases (2) :180550 100050
 

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