Human Phenotype Ontology 
Grandparent Node:
expandAbnormal eye physiology (HP:0012373)help
Parent Node:
expandAbnormal pupillary function (HP:0007686)help
..Starting node
..expandTonic pupil (HP:0012074)help
Term ID: 12074
Name: Tonic pupil
Synonym: Adie pupil; Adie's tonic pupil
Definition: An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.
Comments:
Reference: HP:0012074
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal pupillary light reflex (HP:0007695) help
..expandMiosis (HP:0000616) help
..expandMydriasis (HP:0011499) 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:0012074HP:0012074Tonic pupil0MPZ CL E G H43597225OMIM:118200Charcot-Marie-Tooth disease, demyelinating, type 1B.134
HP:0012074HP:0012074Tonic pupil0PMP22 CL E G H53769118ORPHA:90658Charcot-Marie-Tooth disease type 1EHP:0040282 - Frequent79
HP:0012074HP:0012074Tonic pupil0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54


Genes (3) :MPZ PMP22 PRORP

Diseases (3) :OMIM:118200 ORPHA:90658 OMIM:619737
 

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