Human Phenotype Ontology 
Grandparent Node:
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Abnormal posterior segment imaging (HP:0030601)help
Parent Node:
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Abnormal fundus autofluorescence imaging (HP:0030602)help
..Starting node
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Hyperautofluorescent retinal lesion (HP:0025158)help
Term ID: 25158
Name: Hyperautofluorescent retinal lesion
Synonym:
Definition: Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging.
Comments:
Reference: HP:0025158
Genes and Diseases:
 
       Child Nodes:
........expandHyperautofluorescent macular lesion (HP:0030631) help

 Sister Nodes: 
..expandHypoautofluorescent retinal lesion (HP:0025159) help
..expandIrregular central macular autofluorescence (HP:0030630) help
..expandPerifoveal ring of hyperautofluorescence (HP:0030629) 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:0025158HP:0025158Hyperautofluorescent retinal lesion0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0025158HP:0025158Hyperautofluorescent retinal lesion0ARSG CL E G H2290124102OMIM:618144USHER SYNDROME, TYPE IV; USH4
HP:0025158HP:0025158Hyperautofluorescent retinal lesion0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0025158HP:0025158Hyperautofluorescent retinal lesion0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0025158HP:0025158Hyperautofluorescent retinal lesion0CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0025158HP:0025158Hyperautofluorescent retinal lesion0CFH CL E G H30754883ORPHA:75376Familial drusen86
HP:0025158HP:0025158Hyperautofluorescent retinal lesion0CFI CL E G H34265394ORPHA:75376Familial drusen57
HP:0025158HP:0025158Hyperautofluorescent retinal lesion0EFEMP1 CL E G H22023218ORPHA:75376Familial drusen54
HP:0025158HP:0025158Hyperautofluorescent retinal lesion0GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophy24
HP:0025158HP:0025158Hyperautofluorescent retinal lesion0GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophy124
HP:0025158HP:0025158Hyperautofluorescent retinal lesion0IDH3A CL E G H34195384OMIM:619007RETINITIS PIGMENTOSA 90; RP90
HP:0025158HP:0025158Hyperautofluorescent retinal lesion0KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0025158HP:0025158Hyperautofluorescent retinal lesion0KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0025158HP:0025158Hyperautofluorescent retinal lesion0POMGNT1 CL E G H5562419139OMIM:617123RETINITIS PIGMENTOSA 76; RP76180
HP:0025158HP:0025158Hyperautofluorescent retinal lesion0PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophy159
HP:0025158HP:0025158Hyperautofluorescent retinal lesion0TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22
HP:0025158HP:0030631Hyperautofluorescent macular lesion1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0025158HP:0030631Hyperautofluorescent macular lesion1ARSG CL E G H2290124102OMIM:618144USHER SYNDROME, TYPE IV; USH4
HP:0025158HP:0030631Hyperautofluorescent macular lesion1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0025158HP:0030631Hyperautofluorescent macular lesion1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0025158HP:0030631Hyperautofluorescent macular lesion1CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0025158HP:0030631Hyperautofluorescent macular lesion1CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040282 - Frequent86
HP:0025158HP:0030631Hyperautofluorescent macular lesion1CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040282 - Frequent57
HP:0025158HP:0030631Hyperautofluorescent macular lesion1EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040282 - Frequent54
HP:0025158HP:0030631Hyperautofluorescent macular lesion1GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040281 - Very frequent24
HP:0025158HP:0030631Hyperautofluorescent macular lesion1GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040281 - Very frequent124
HP:0025158HP:0030631Hyperautofluorescent macular lesion1POMGNT1 CL E G H5562419139OMIM:617123RETINITIS PIGMENTOSA 76; RP76180
HP:0025158HP:0030631Hyperautofluorescent macular lesion1PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040281 - Very frequent159
HP:0025158HP:0030631Hyperautofluorescent macular lesion1TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22


Genes (16) :ARL6 ARSG BBS1 CCDC28B CFAP418 CFH CFI EFEMP1 GUCA1A GUCY2D IDH3A KIAA1549 KIF3B POMGNT1 PRPH2 TLCD3B

Diseases (10) :OMIM:209900 OMIM:618144 OMIM:617406 ORPHA:75376 ORPHA:75377 OMIM:619007 OMIM:618613 OMIM:618955 OMIM:617123 OMIM:619531
 

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