Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormality of vision (HP:0000504)help
..Starting node
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Metamorphopsia (HP:0012508)help
Term ID: 12508
Name: Metamorphopsia
Synonym:
Definition: A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank.
Comments:
Reference: HP:0012508
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormality of binocular vision (HP:0011514) help
..expandAmaurosis fugax (HP:0100576) help
..expandBlurred vision (HP:0000622) help
..expandBradyopsia (HP:0030511) help
..expandColor vision defect (HP:0000551) help
..expandDifficulty adjusting to changes in luminance (HP:0030512) help
..expandHemeralopia (HP:0012047) help
..expandNyctalopia (HP:0000662) help
..expandPhotophobia (HP:0000613) help
..expandPhotopsia (HP:0030786) help
..expandPoor visual behavior for age (HP:0025152) help
..expandReduced visual acuity (HP:0007663) help
..expandVisual field defect (HP:0001123) help
..expandVisual impairment (HP:0000505) help
..expandVisual loss (HP:0000572) help
..expandVitreous floaters (HP:0100832) 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:0012508HP:0012508Metamorphopsia0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional415
HP:0012508HP:0012508Metamorphopsia0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent239
HP:0012508HP:0012508Metamorphopsia0BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040283 - Occasional184
HP:0012508HP:0012508Metamorphopsia0BEST1 CL E G H743912703ORPHA:1243Best vitelliform macular dystrophyHP:0040281 - Very frequent182
HP:0012508HP:0012508Metamorphopsia0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent449
HP:0012508HP:0012508Metamorphopsia0CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040282 - Frequent86
HP:0012508HP:0012508Metamorphopsia0CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040282 - Frequent57
HP:0012508HP:0012508Metamorphopsia0CRX CL E G H14062383OMIM:120970Cone-Rod dystrophy 2158
HP:0012508HP:0012508Metamorphopsia0CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040283 - Occasional1
HP:0012508HP:0012508Metamorphopsia0EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040282 - Frequent54
HP:0012508HP:0012508Metamorphopsia0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional151
HP:0012508HP:0012508Metamorphopsia0GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040283 - Occasional16
HP:0012508HP:0012508Metamorphopsia0GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040283 - Occasional7
HP:0012508HP:0012508Metamorphopsia0PRPH2 CL E G H59619942OMIM:169150Macular dystrophy, patterned, 1HP:0040283 - Occasional159
HP:0012508HP:0012508Metamorphopsia0PRPH2 CL E G H59619942OMIM:608161Macular dystrophy, vitelliform, 3.159
HP:0012508HP:0012508Metamorphopsia0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent94
HP:0012508HP:0012508Metamorphopsia0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040282 - Frequent1053
HP:0012508HP:0012508Metamorphopsia0SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040283 - Occasional19


Genes (17) :ABCC6 ATP1A2 BAP1 BEST1 CACNA1A CFH CFI CRX CYSLTR2 EFEMP1 ENPP1 GNA11 GNAQ PRPH2 PRRT2 SCN1A SF3B1

Diseases (8) :ORPHA:758 ORPHA:569 ORPHA:39044 ORPHA:1243 ORPHA:75376 OMIM:120970 OMIM:169150 OMIM:608161
 

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