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 fold (HP:0008052)help
Term ID: 8052
Name: Retinal fold
Synonym: Retinal folds
Definition: A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.
Comments:
Reference: HP:0008052
Genes and Diseases:
 
       Child Nodes:
........expandFalciform retinal fold (HP:0001493) 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 hamartoma (HP:0009594) help
..expandRetinal hemorrhage (HP:0000573) help
..expandRetinal infarction (HP:0007866) help
..expandRetinal neoplasm (HP:0012777) help
..expandRetinal perforation (HP:0011958) 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:0008052HP:0008052Retinal fold0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0008052HP:0008052Retinal fold0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0008052HP:0008052Retinal fold0CTNNB1 CL E G H14992514OMIM:617572Exudative vitreoretinopathy 788
HP:0008052HP:0008052Retinal fold0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathy88
HP:0008052HP:0008052Retinal fold0FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1109
HP:0008052HP:0008052Retinal fold0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathy109
HP:0008052HP:0008052Retinal fold0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0008052HP:0008052Retinal fold0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0008052HP:0008052Retinal fold0LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1125
HP:0008052HP:0008052Retinal fold0LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4125
HP:0008052HP:0008052Retinal fold0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathy125
HP:0008052HP:0008052Retinal fold0NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked39
HP:0008052HP:0008052Retinal fold0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathy39
HP:0008052HP:0008052Retinal fold0NDP CL E G H46937678OMIM:310600Norrie disease.39
HP:0008052HP:0008052Retinal fold0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0008052HP:0008052Retinal fold0PRSS56 CL E G H64696039433OMIM:613517Microphthalmia, isolated 6.11
HP:0008052HP:0008052Retinal fold0TSPAN12 CL E G H2355421641OMIM:613310Exudative vitreoretinopathy 539
HP:0008052HP:0008052Retinal fold0TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathy39
HP:0008052HP:0008052Retinal fold0TUBGCP6 CL E G H8537818127OMIM:251270Microcephaly and chorioretinopathy, autosomal recessive, 1.61
HP:0008052HP:0008052Retinal fold0ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathy14
HP:0008052HP:0001493Falciform retinal fold1CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent88
HP:0008052HP:0001493Falciform retinal fold1FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1.109
HP:0008052HP:0001493Falciform retinal fold1FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent109
HP:0008052HP:0001493Falciform retinal fold1LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1.125
HP:0008052HP:0001493Falciform retinal fold1LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4.125
HP:0008052HP:0001493Falciform retinal fold1LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent125
HP:0008052HP:0001493Falciform retinal fold1NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked39
HP:0008052HP:0001493Falciform retinal fold1NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent39
HP:0008052HP:0001493Falciform retinal fold1TSPAN12 CL E G H2355421641OMIM:613310Exudative vitreoretinopathy 539
HP:0008052HP:0001493Falciform retinal fold1TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent39
HP:0008052HP:0001493Falciform retinal fold1ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent14


Genes (10) :ATOH7 CTNNB1 FZD4 KIF11 LRP5 NDP PRSS56 TSPAN12 TUBGCP6 ZNF408

Diseases (12) :ORPHA:91495 OMIM:221900 OMIM:617572 ORPHA:891 OMIM:133780 OMIM:152950 OMIM:601813 OMIM:305390 OMIM:310600 OMIM:613517 OMIM:613310 OMIM:251270
 

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