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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Abnormal pupillary light reflex (HP:0007695)help
Term ID: 7695
Name: Abnormal pupillary light reflex
Synonym:
Definition: An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.
Comments:
Reference: HP:0007695
Genes and Diseases:
 
       Child Nodes:
........expandSlow pupillary light response (HP:0030211) help

 Sister Nodes: 
..expandMiosis (HP:0000616) help
..expandMydriasis (HP:0011499) help
..expandTonic pupil (HP:0012074) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007695HP:0007695Abnormal pupillary light reflex0SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1102125429427608206
HP:0007695HP:0007695Abnormal pupillary light reflex1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1102125429427608206
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (4) :COLQ LAMB2 SH3TC2 TULP1

Diseases (3) :601596 98915 613843
 

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