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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011958HP:0011958Retinal perforation0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I284
HP:0011958HP:0011958Retinal perforation0CTNNB1 CL E G H14992514OMIM:617572Exudative vitreoretinopathy 788
HP:0011958HP:0011958Retinal perforation0FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1109
HP:0011958HP:0011958Retinal perforation0GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophy24
HP:0011958HP:0011958Retinal perforation0GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophy124
HP:0011958HP:0011958Retinal perforation0HLA-A CL E G H31054931ORPHA:179Birdshot chorioretinopathy4
HP:0011958HP:0011958Retinal perforation0LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1125
HP:0011958HP:0011958Retinal perforation0NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked39
HP:0011958HP:0011958Retinal perforation0PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophy159
HP:0011958HP:0011530Retinal hole1COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I284
HP:0011958HP:0011530Retinal hole1CTNNB1 CL E G H14992514OMIM:617572Exudative vitreoretinopathy 7.88
HP:0011958HP:0011530Retinal hole1FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1109
HP:0011958HP:0011508Macular hole1GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophy24
HP:0011958HP:0011508Macular hole1GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophy124
HP:0011958HP:0011508Macular hole1HLA-A CL E G H31054931ORPHA:179Birdshot chorioretinopathyHP:0040282 - Frequent4
HP:0011958HP:0011530Retinal hole1LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1125
HP:0011958HP:0011530Retinal hole1NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linkedHP:0040283 - Occasional39
HP:0011958HP:0011508Macular hole1PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophy159
HP:0011958HP:0031152Full-thickness macular hole2GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040281 - Very frequent24
HP:0011958HP:0031152Full-thickness macular hole2GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040281 - Very frequent124
HP:0011958HP:0031152Full-thickness macular hole2PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040281 - Very frequent159


Genes (9) :COL2A1 CTNNB1 FZD4 GUCA1A GUCY2D HLA-A LRP5 NDP PRPH2

Diseases (6) :OMIM:108300 OMIM:617572 OMIM:133780 ORPHA:75377 ORPHA:179 OMIM:305390
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.