Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal eye physiology (HP:0012373)help
Parent Node:
expand
Abnormal pupillary function (HP:0007686)help
..Starting node
..expand
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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011499HP:0011499Mydriasis0ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome.HP:0003577 - Congenital onset94
HP:0011499HP:0011499Mydriasis0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0011499HP:0011499Mydriasis0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0011499HP:0011499Mydriasis0BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040283 - Occasional184
HP:0011499HP:0011499Mydriasis0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0011499HP:0011499Mydriasis0CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040283 - Occasional1
HP:0011499HP:0011499Mydriasis0GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040283 - Occasional16
HP:0011499HP:0011499Mydriasis0GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040283 - Occasional7
HP:0011499HP:0011499Mydriasis0LOXL1 CL E G H40166665OMIM:177650Exfoliation syndrome.3
HP:0011499HP:0011499Mydriasis0MYH11 CL E G H46297569OMIM:619351MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2418
HP:0011499HP:0011499Mydriasis0MYL9 CL E G H1039815754OMIM:619365MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0011499HP:0011499Mydriasis0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0011499HP:0011499Mydriasis0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040283 - Occasional75
HP:0011499HP:0011499Mydriasis0SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040283 - Occasional19
HP:0011499HP:0011499Mydriasis0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0011499HP:0011499Mydriasis0TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0011499HP:0007932Bilateral congenital mydriasis1 CL E G H


Genes (16) :ACTA2 ATP1A2 ATP1A3 BAP1 CACNA1A CYSLTR2 GNA11 GNAQ LOXL1 MYH11 MYL9 OSTM1 PEX10 SF3B1 SLC1A3 TMEM53

Diseases (9) :OMIM:613834 ORPHA:2131 ORPHA:39044 OMIM:177650 OMIM:619351 OMIM:619365 OMIM:259720 ORPHA:247815 OMIM:619727
 

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