Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior eye segment morphology (HP:0004328)help
Grandparent Node:
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Abnormal uvea morphology (HP:0000553)help
Parent Node:
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Abnormality iris morphology (HP:0000525)help
..Starting node
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Uveal ectropion (HP:0025358)help
Term ID: 25358
Name: Uveal ectropion
Synonym: Ectropion uveae
Definition: Presence of iris pigment epithelium on the anterior surface of the iris.
Comments:
Reference: HP:0025358
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal iris pigmentation (HP:0008034) help
..expandAbnormal iris vasculature (HP:0007905) help
..expandAbnormal pupil morphology (HP:0000615) help
..expandAplasia/Hypoplasia of the iris (HP:0008053) help
..expandIridodonesis (HP:0100693) help
..expandIris atrophy (HP:0001089) help
..expandIris coloboma (HP:0000612) help
..expandIris cyst (HP:0011523) help
..expandIris flocculi (HP:0500007) help
..expandIris melanoma (HP:0011524) help
..expandIris nevus (HP:0011525) help
..expandIritis (HP:0001101) help
..expandLisch nodules (HP:0009737) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0025358HP:0025358Uveal ectropion0CPAMD8 CL E G H27151617319Anterior segment dysgenesis 8617319C4310622OMIM165823228608841
HP:0025358HP:0025358Uveal ectropion0OVOL2 CL E G H58495122000Posterior polymorphous corneal dystrophy 1122000CN029625OMIM142815804616441
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (2) :CPAMD8 OVOL2

Diseases (2) :617319 122000
 

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