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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0012508HP:0012508Metamorphopsia0BEST1 CL E G H74391243ORPHA131949212703607854
HP:0012508HP:0012508Metamorphopsia0PRPH2 CL E G H5961608161Macular dystrophy, vitelliform, adult-onset608161C1842914OMIM11815259942179605
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012508HP:0012508Metamorphopsia0ABCC6 CL E G H368758Apo A-I deficiencyORPHA038090457603234
HP:0012508HP:0012508Metamorphopsia0BAP1 CL E G H831439044ORPHA01191483950603089
HP:0012508HP:0012508Metamorphopsia0CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM01073602383602225
HP:0012508HP:0012508Metamorphopsia0CYSLTR2 CL E G H5710539044ORPHA026318274605666
HP:0012508HP:0012508Metamorphopsia0ENPP1 CL E G H5167758Apo A-I deficiencyORPHA0773653356173335
HP:0012508HP:0012508Metamorphopsia0GNA11 CL E G H276739044ORPHA0111284379139313
HP:0012508HP:0012508Metamorphopsia0GNAQ CL E G H277639044ORPHA06724390600998
HP:0012508HP:0012508Metamorphopsia0PRPH2 CL E G H5961169150Patterned dystrophy of retinal pigment epithelium169150C1868569OMIM01815259942179605
HP:0012508HP:0012508Metamorphopsia0SF3B1 CL E G H2345139044ORPHA046710768605590


Genes (10) :ABCC6 BAP1 BEST1 CRX CYSLTR2 ENPP1 GNA11 GNAQ PRPH2 SF3B1

Diseases (6) :758 39044 1243 120970 608161 169150
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.