Human Phenotype Ontology 
Grandparent Node:
expandAbnormal fundus morphology (HP:0001098)help
Parent Node:
expandAbnormality of the optic nerve (HP:0000587)help
..Starting node
..expandMarcus Gunn pupil (HP:0200057)help
Term ID: 200057
Name: Marcus Gunn pupil
Synonym: Relative afferent pupil defect; Relative afferent pupillary defect
Definition: An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye.
Comments:
Reference: HP:0200057
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal optic disc morphology (HP:0012795) help
..expandAbnormality of optic chiasm morphology (HP:0025163) help
..expandAplasia/Hypoplasia of the optic nerve (HP:0008058) help
..expandLeber optic atrophy (HP:0001112) help
..expandMorning glory anomaly (HP:0025514) help
..expandOptic disc coloboma (HP:0000588) help
..expandOptic nerve arteriovenous malformation (HP:0031256) help
..expandOptic nerve compression (HP:0007807) help
..expandOptic nerve dysplasia (HP:0001093) help
..expandOptic nerve misrouting (HP:0025551) help
..expandOptic neuritis (HP:0100653) help
..expandOptic neuropathy (HP:0001138) 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:0200057HP:0200057Marcus Gunn pupil0SH3BP2 CL E G H645210825OMIM:118400Cherubism177


Genes (1) :SH3BP2

Diseases (1) :OMIM:118400
 

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