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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Perifoveal ring of hyperautofluorescence (HP:0030629)help
Term ID: 30629
Name: Perifoveal ring of hyperautofluorescence
Synonym:
Definition:
Comments:
Reference: HP:0030629
Genes and Diseases:
 
       Child Nodes:
........expandPerifoveal ring of hyperautofluorescence surrounded by normal autofluorescence (HP:0030633) help
........expandPerifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence (HP:0030634) help

 Sister Nodes: 
..expandHyperautofluorescent retinal lesion (HP:0025158) help
..expandHypoautofluorescent retinal lesion (HP:0025159) help
..expandIrregular central macular autofluorescence (HP:0030630) 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:0030629HP:0030629Perifoveal ring of hyperautofluorescence0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0030629HP:0030629Perifoveal ring of hyperautofluorescence0CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040282 - Frequent86
HP:0030629HP:0030629Perifoveal ring of hyperautofluorescence0CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040282 - Frequent57
HP:0030629HP:0030629Perifoveal ring of hyperautofluorescence0EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040282 - Frequent54
HP:0030629HP:0030629Perifoveal ring of hyperautofluorescence0GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional24
HP:0030629HP:0030629Perifoveal ring of hyperautofluorescence0GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional124
HP:0030629HP:0030629Perifoveal ring of hyperautofluorescence0IFT172 CL E G H2616030391OMIM:616394Retinitis pigmentosa 7148
HP:0030629HP:0030629Perifoveal ring of hyperautofluorescence0PROM1 CL E G H88429454OMIM:608051Macular dystrophy, retinal, 2.110
HP:0030629HP:0030629Perifoveal ring of hyperautofluorescence0PRPF31 CL E G H2612115446OMIM:600138Retinitis pigmentosa 1170
HP:0030629HP:0030629Perifoveal ring of hyperautofluorescence0PRPF8 CL E G H1059417340OMIM:600059Retinitis pigmentosa 1394
HP:0030629HP:0030629Perifoveal ring of hyperautofluorescence0PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040283 - Occasional159
HP:0030629HP:0030629Perifoveal ring of hyperautofluorescence0RAX2 CL E G H8483918286OMIM:62010252
HP:0030629HP:0030629Perifoveal ring of hyperautofluorescence0TLCD3B CL E G H8372325295OMIM:619531CONE-ROD DYSTROPHY 22; CORD22
HP:0030629HP:0030629Perifoveal ring of hyperautofluorescence0TTLL5 CL E G H2309319963OMIM:615860Cone-Rod dystrophy 199
HP:0030629HP:0030634Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence1 CL E G H
HP:0030629HP:0030633Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence1 CL E G H


Genes (14) :AIRE CFH CFI EFEMP1 GUCA1A GUCY2D IFT172 PROM1 PRPF31 PRPF8 PRPH2 RAX2 TLCD3B TTLL5

Diseases (10) :OMIM:240300 ORPHA:75376 ORPHA:75377 OMIM:616394 OMIM:608051 OMIM:600138 OMIM:600059 OMIM:620102 OMIM:619531 OMIM:615860
 

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