Human Phenotype Ontology 
Grandparent Node:
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Involuntary movements (HP:0004305)help
Parent Node:
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Motor stereotypy (HP:0000733)help
..Starting node
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Eye poking (HP:0001483)help
Term ID: 1483
Name: Eye poking
Synonym: Ocular auto-stimulation; Oculodigital phenomenon
Definition: Repetitive pressing, poking, and/or rubbing in the eyes.
Comments:
Reference: HP:0001483
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandPunding (HP:0030218) help
..expandRecurrent hand flapping (HP:0100023) help
..expandRepetitive compulsive behavior (HP:0008762) help
..expandStereotypical body rocking (HP:0012172) help
..expandStereotypical hand wringing (HP:0012171) help
..expandTongue thrusting (HP:0100703) 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:0001483HP:0001483Eye poking0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0001483HP:0001483Eye poking0GUCY2D CL E G H30004689OMIM:204000Leber congenital amaurosis, type I.124
HP:0001483HP:0001483Eye poking0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0001483HP:0001483Eye poking0RPE65 CL E G H612110294OMIM:204100Leber congenital amaurosis, type II.129


Genes (4) :CRB1 GUCY2D NMNAT1 RPE65

Diseases (4) :OMIM:613835 OMIM:204000 OMIM:608553 OMIM:204100
 

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