Human Phenotype Ontology 
Grandparent Node:
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Abnormal fundus morphology (HP:0001098)help
Parent Node:
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Abnormal retinal morphology (HP:0000479)help
..Starting node
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Retinal perforation (HP:0011958)help
Term ID: 11958
Name: Retinal perforation
Synonym: Retinal tear; Torn retina
Definition: A small hole through the whole thickness of the retina.
Comments:
Reference: HP:0011958
Genes and Diseases:
 
       Child Nodes:
........expandMacular hole (HP:0011508) help
................... HP:0031152 Full-thickness macular hole
........expandRetinal hole (HP:0011530) help

 Sister Nodes: 
..expandAbnormal chorioretinal morphology (HP:0000532) help
..expandAbnormal macular morphology (HP:0001103) help
..expandAbnormal retinal vascular morphology (HP:0008046) help
..expandAbnormality of retinal pigmentation (HP:0007703) help
..expandAngioid streaks of the fundus (HP:0001102) help
..expandAplasia/Hypoplasia of the retina (HP:0008061) help
..expandHypermyelinated retinal nerve fibers (HP:0007922) help
..expandIntraretinal fluid (HP:0031527) help
..expandRetinal coloboma (HP:0000480) help
..expandRetinal degeneration (HP:0000546) help
..expandRetinal detachment (HP:0000541) help
..expandRetinal dysplasia (HP:0007973) help
..expandRetinal dystrophy (HP:0000556) help
..expandRetinal fold (HP:0008052) help
..expandRetinal hamartoma (HP:0009594) help
..expandRetinal hemorrhage (HP:0000573) help
..expandRetinal infarction (HP:0007866) help
..expandRetinal neoplasm (HP:0012777) help
..expandRetinal thinning (HP:0030329) help
..expandRetinopathy (HP:0000488) help
..expandRetinoschisis (HP:0030502) help
..expandSub-RPE deposits (HP:0031531) help
..expandSubretinal deposits (HP:0031528) help
..expandSubretinal fluid (HP:0031526) help
..expandYellow/white lesions of the retina (HP:0030506) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011958HP:0011958Retinal perforation0 CL E G H
HP:0011958HP:0011958Retinal perforation1 CL E G H
HP:0011958HP:0011958Retinal perforation2 CL E G H


Genes (3) :CTNNB1 HLA-A NDP

Diseases (3) :617572 179 305390
 

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