Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormal pupillary function (HP:0007686)help
..Starting node
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Mydriasis (HP:0011499)help
Term ID: 11499
Name: Mydriasis
Synonym: Dilated pupil
Definition: Abnormal dilatation of the iris.
Comments:
Reference: HP:0011499
Genes and Diseases:
 
       Child Nodes:
........expandBilateral congenital mydriasis (HP:0007932) help

 Sister Nodes: 
..expandAbnormal pupillary light reflex (HP:0007695) help
..expandMiosis (HP:0000616) help
..expandTonic pupil (HP:0012074) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0011499HP:0011499Mydriasis0ACTA2 CL E G H59613834Multisystemic smooth muscle dysfunction syndrome613834C3151201OMIM1387130102620
HP:0011499HP:0011499Mydriasis0ACTA2 CL E G H59613834Multisystemic smooth muscle dysfunction syndrome613834C3151201OMIM1362130102620
HP:0011499HP:0007932Bilateral congenital mydriasis1ACTA2 CL E G H59613834Multisystemic smooth muscle dysfunction syndrome613834C3151201OMIM1387130102620
HP:0011499HP:0007932Bilateral congenital mydriasis1ACTA2 CL E G H59613834Multisystemic smooth muscle dysfunction syndrome613834C3151201OMIM1362130102620
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011499HP:0011499Mydriasis0BAP1 CL E G H831439044ORPHA01683950603089
HP:0011499HP:0011499Mydriasis0BAP1 CL E G H831439044ORPHA01514950603089
HP:0011499HP:0011499Mydriasis0CYSLTR2 CL E G H5710539044ORPHA06718274605666
HP:0011499HP:0011499Mydriasis0CYSLTR2 CL E G H5710539044ORPHA06518274605666
HP:0011499HP:0011499Mydriasis0GNA11 CL E G H276739044ORPHA01504379139313
HP:0011499HP:0011499Mydriasis0GNA11 CL E G H276739044ORPHA01294379139313
HP:0011499HP:0011499Mydriasis0GNAQ CL E G H277639044ORPHA0754390600998
HP:0011499HP:0011499Mydriasis0GNAQ CL E G H277639044ORPHA0744390600998
HP:0011499HP:0011499Mydriasis0PEX10 CL E G H5192247815ORPHA05788851602859
HP:0011499HP:0011499Mydriasis0PEX10 CL E G H5192247815ORPHA04808851602859
HP:0011499HP:0011499Mydriasis0SF3B1 CL E G H2345139044ORPHA06810768605590
HP:0011499HP:0007932Bilateral congenital mydriasis1BAP1 CL E G H831439044ORPHA01683950603089
HP:0011499HP:0007932Bilateral congenital mydriasis1BAP1 CL E G H831439044ORPHA01514950603089
HP:0011499HP:0007932Bilateral congenital mydriasis1CYSLTR2 CL E G H5710539044ORPHA06718274605666
HP:0011499HP:0007932Bilateral congenital mydriasis1CYSLTR2 CL E G H5710539044ORPHA06518274605666
HP:0011499HP:0007932Bilateral congenital mydriasis1GNA11 CL E G H276739044ORPHA01504379139313
HP:0011499HP:0007932Bilateral congenital mydriasis1GNA11 CL E G H276739044ORPHA01294379139313
HP:0011499HP:0007932Bilateral congenital mydriasis1GNAQ CL E G H277639044ORPHA0754390600998
HP:0011499HP:0007932Bilateral congenital mydriasis1GNAQ CL E G H277639044ORPHA0744390600998
HP:0011499HP:0007932Bilateral congenital mydriasis1PEX10 CL E G H5192247815ORPHA05788851602859
HP:0011499HP:0007932Bilateral congenital mydriasis1PEX10 CL E G H5192247815ORPHA04808851602859
HP:0011499HP:0007932Bilateral congenital mydriasis1SF3B1 CL E G H2345139044ORPHA06810768605590


Genes (7) :ACTA2 BAP1 CYSLTR2 GNA11 GNAQ PEX10 SF3B1

Diseases (3) :613834 39044 247815
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.